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Sample records for severe clinical manifestation

  1. PASI (Psoriasis Area and Severity Index in the evaluation of the clinical manifestations of psoriasis

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    A. A. Kubanov

    2016-01-01

    Full Text Available Psoriasis is one of the most prevalent chronic inflammatory skin diseases. The severity of its clinical manifestations can vary greatly. Objective assessment of psoriasis severity is required to select an adequate therapy. One of the simplest and most consistent methods used to determine psoriasis severity is to calculate the PASI (Psoriasis Area and Severity Index. This index is based on the doctor’s determination of the sum of indices showing the intensity of the main symptoms of psoriasis: erythema, infiltration and peeling in view of the affected skin area. The PASI can also be used to assess the efficacy of treatment for psoriasis patients.

  2. Clinical Manifestations of the Opiate Withdrawal Syndrome

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    Faniya Shigakova

    2015-09-01

    Full Text Available Currently, substance abuse is one of the most serious problems facing our society. The aim of this study was to investigate the clinical manifestations of the opiate withdrawal syndrome (OWS. The study included 112 patients (57 women and 55 men aged from 18 to 64 years with opium addiction according to the DSM-IV. To study the clinical manifestation of OWS, the special 25-score scale with four sections to assess severity of sleep disorders, pain syndrome, autonomic disorders, and affective symptoms was used. Given the diversity of the OWS symptoms, attention was focused on three clinical variants, affective, algic and mixed. The OWS affective variant was registered more frequently in women, while the mixed type of OWS was more typical of men.

  3. Hematologic manifestations of Crohn's disease: two clinical cases

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    O. V. Taratina

    2017-01-01

    Full Text Available Inflammatory bowel diseases (IBD are commonly associated with extraintestinal manifestations, hematological disorders being the most special among them. In some cases, they dominate the clinical picture masking the intestinal manifestations of the underlying disease. Aplastic anemia is an extremely rare extraintestinal IBD manifestation. There are only two clinical cases of aplastic anemia associated with ulcerative colitis and non with Crohn's disease reported in the literature. Combination of Crohn's disease and В₁₂-deficient anemia is more prevalent, but is seen usually only after more than 20 cm of the ileus has been resected. The first clinical case presented in this paper is a  combination of severe fistula-forming Crohn's disease with a constriction in the terminal part of the ileus and profound pancytopenia as an outcome of aplastic anemia. This profound pancytopenia is associated with an extremely high risk of life-threatening complications both of surgical treatment, as well as of several chemotherapeutic agents, which made the management of this patient difficult. The second clinical case demonstrates the manifestation of Crohn's disease as ileocolitis starting from the symptoms of cobalamin deficiency: severe В₁₂-deficient anemia, funicular myelosis and sensory ataxia, with blunted intestinal symptoms. This made the initial diagnosis and timely treatment difficult. Replacement therapy with cobalamin injections and treatment with glucocorticoids and antibacterials led to endoscopically confirmed remission of Crohn's disease and normalization of hematological parameters, with persistent polyneuropathy. Thus, management of patients with Crohn's disease should be multidisciplinary. In the case of anemia, leucopenia and/or thrombocytopenia in IBD patients it is necessary to exclude potential myelodysplasia and bone marrow aplasia. In the event of megaloblastic anemia and/or progressive polyneuropathy one should bear in mind

  4. Correlation of abdominopelvic computed tomography with clinical manifestations in methamphetamine body stuffers.

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    Bahrami-Motlagh, Hooman; Hassanian-Moghaddam, Hossein; Zamini, Hedieh; Zamani, Nasim; Gachkar, Latif

    2018-02-01

    Little is known about methamphetamine body stuffers and correlation of clinical manifestations with imaging studies. Current study was done to determine abdominopelvic computed tomography findings and clinical manifestations in methamphetamine body stuffers. In an IRB-approved routine data base study, demographic characteristics, clinical findings, and CT results of 70 methamphetamine body stuffers were retrieved. According to the clinical manifestations, the patients were categorized into either benign- or severe-outcome group. Also, they were determined to have positive or negative CT results. In the group with positive results, number and place of the baggies were determined, as well. Results of the CT were compared between the two groups. Almost 43% of the patients had positive abdominopelvic CT results. Mean density of the packs was 176.2 ± 152.7 Hounsfield unit. Based on the clinical grounds, 57% of the patients were in the benign- and 33% were in the severe-outcome group. In the benign group, 45% of the patients had positive CTs while in the severe-risk group, this was 40% (p > 0.05). Except variables defined as severe outcome (seizure, intubation, creatinine level, aspartate aminotransferase level, creatine phosphokinase and troponin level), agitation, on-arrival pulse rate, lactate dehydrogenase, bicarbonate, base excess, loss of consciousness and hospitalization period were correlating factors. But in regression analysis, we could not find a significant variable that prognosticate severe outcome. It seems that there is no relationship between the CT findings and clinical manifestations of the methamphetamine body stuffers. Severe outcomes may be observed even in the face of negative CTs.

  5. Adenosine Deaminase (ADA)-Deficient Severe Combined Immune Deficiency (SCID): Molecular Pathogenesis and Clinical Manifestations.

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    Bradford, Kathryn L; Moretti, Federico A; Carbonaro-Sarracino, Denise A; Gaspar, Hubert B; Kohn, Donald B

    2017-10-01

    Deficiency of adenosine deaminase (ADA, EC3.5.4.4), a housekeeping enzyme of purine metabolism encoded by the Ada gene, is a cause of human severe combined immune deficiency (SCID). Numerous deleterious mutations occurring in the ADA gene have been found in patients with profound lymphopenia (T - B - NK - ), thus underscoring the importance of functional purine metabolism for the development of the immune defense. While untreated ADA SCID is a fatal disorder, there are multiple life-saving therapeutic modalities to restore ADA activity and reconstitute protective immunity, including enzyme replacement therapy (ERT), allogeneic hematopoietic stem cell transplantation (HSCT) and gene therapy (GT) with autologous gene-corrected hematopoietic stem cells (HSC). We review the pathogenic mechanisms and clinical manifestations of ADA SCID.

  6. Correlation of Serotype-Specific Dengue Virus Infection with Clinical Manifestations

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    Halsey, Eric S.; Marks, Morgan A.; Gotuzzo, Eduardo; Fiestas, Victor; Suarez, Luis; Vargas, Jorge; Aguayo, Nicolas; Madrid, Cesar; Vimos, Carlos; Kochel, Tadeusz J.; Laguna-Torres, V. Alberto

    2012-01-01

    Background Disease caused by the dengue virus (DENV) is a significant cause of morbidity throughout the world. Although prior research has focused on the association of specific DENV serotypes (DENV-1, DENV-2, DENV-3, and DENV-4) with the development of severe outcomes such as dengue hemorrhagic fever and dengue shock syndrome, relatively little work has correlated other clinical manifestations with a particular DENV serotype. The goal of this study was to estimate and compare the prevalence of non-hemorrhagic clinical manifestations of DENV infection by serotype. Methodology and Principal Findings Between the years 2005–2010, individuals with febrile disease from Peru, Bolivia, Ecuador, and Paraguay were enrolled in an outpatient passive surveillance study. Detailed information regarding clinical signs and symptoms, as well as demographic information, was collected. DENV infection was confirmed in patient sera with polyclonal antibodies in a culture-based immunofluorescence assay, and the infecting serotype was determined by serotype-specific monoclonal antibodies. Differences in the prevalence of individual and organ-system manifestations were compared across DENV serotypes. One thousand seven hundred and sixteen individuals were identified as being infected with DENV-1 (39.8%), DENV-2 (4.3%), DENV-3 (41.5%), or DENV-4 (14.4%). When all four DENV serotypes were compared with each other, individuals infected with DENV-3 had a higher prevalence of musculoskeletal and gastrointestinal manifestations, and individuals infected with DENV-4 had a higher prevalence of respiratory and cutaneous manifestations. Conclusions/Significance Specific clinical manifestations, as well as groups of clinical manifestations, are often overrepresented by an individual DENV serotype. PMID:22563516

  7. Correlation of serotype-specific dengue virus infection with clinical manifestations.

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    Eric S Halsey

    Full Text Available Disease caused by the dengue virus (DENV is a significant cause of morbidity throughout the world. Although prior research has focused on the association of specific DENV serotypes (DENV-1, DENV-2, DENV-3, and DENV-4 with the development of severe outcomes such as dengue hemorrhagic fever and dengue shock syndrome, relatively little work has correlated other clinical manifestations with a particular DENV serotype. The goal of this study was to estimate and compare the prevalence of non-hemorrhagic clinical manifestations of DENV infection by serotype.Between the years 2005-2010, individuals with febrile disease from Peru, Bolivia, Ecuador, and Paraguay were enrolled in an outpatient passive surveillance study. Detailed information regarding clinical signs and symptoms, as well as demographic information, was collected. DENV infection was confirmed in patient sera with polyclonal antibodies in a culture-based immunofluorescence assay, and the infecting serotype was determined by serotype-specific monoclonal antibodies. Differences in the prevalence of individual and organ-system manifestations were compared across DENV serotypes. One thousand seven hundred and sixteen individuals were identified as being infected with DENV-1 (39.8%, DENV-2 (4.3%, DENV-3 (41.5%, or DENV-4 (14.4%. When all four DENV serotypes were compared with each other, individuals infected with DENV-3 had a higher prevalence of musculoskeletal and gastrointestinal manifestations, and individuals infected with DENV-4 had a higher prevalence of respiratory and cutaneous manifestations.Specific clinical manifestations, as well as groups of clinical manifestations, are often overrepresented by an individual DENV serotype.

  8. Acute dacryocystitis: another clinical manifestation of sporotrichosis.

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    Freitas, Dayvison Francis Saraiva; Lima, Iluska Augusta Rocha; Curi, Carolina Lemos; Jordão, Livia; Zancopé-Oliveira, Rosely Maria; Valle, Antonio Carlos Francesconi do; Galhardo, Maria Clara Gutierrez; Curi, Andre Luiz Land

    2014-04-01

    Sporotrichosis associated with exposure to domestic cats is hyperendemic in Rio de Janeiro, Brazil. A review of the clinical records at our institute revealed four patients with clinical signs of dacryocystitis and a positive conjunctival culture for Sporothrix who were diagnosed with Sporothrix dacryocystitis. Three patients were children (sporotrichosis. Dacryocystitis was associated with nodular, ulcerated lesions on the face of one patient and with granulomatous conjunctivitis in two patients; however, this condition manifested as an isolated disease in another patient. All of the patients were cured of the fungal infections, but three patients had chronic dacryocystitis and one patient developed a cutaneous fistula. Sporotrichosis is usually a benign disease, but may cause severe complications when the eye and the adnexa are affected. Physicians, especially ophthalmologists in endemic areas, should be aware of the ophthalmological manifestations and complications of sporotrichosis.

  9. Norrie disease: extraocular clinical manifestations in 56 patients.

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    Smith, Sharon E; Mullen, Thomas E; Graham, Dionne; Sims, Katherine B; Rehm, Heidi L

    2012-08-01

    Norrie disease (ND) is an X-linked recessive disorder characterized by congenital blindness, progressive sensorineural hearing loss and cognitive impairment. The ocular phenotype has been well described, while the extraocular manifestations of the disorder are not well understood. We present the data from the Norrie Disease Registry, which consists of 56 patients with detailed clinical histories and genotype data. This study represents the largest, detailed investigation into the phenotypic spectrum of ND to date and more importantly expands knowledge of the extraocular clinical manifestations. We identify several novel aspects of the syndrome that will improve the management of these patients. In particular, we expand our understanding of the neurologic manifestations in ND and identify a chronic seizure disorder in approximately 10% of all patients. In addition, details of the hearing phenotype are described including the median age of onset (12 years of age) and how genotype affects onset. Moreover, we find vascular disease to be a significant component of ND; and vascular health should be, in the future, a component of patient clinical care. In summary, the results expand our understanding of the phenotypic variability and genotypic heterogeneity in ND patients. Copyright © 2012 Wiley Periodicals, Inc.

  10. Clinical manifestations and pulmonary radiological features in patients with triphosgene poisoning

    International Nuclear Information System (INIS)

    Ye Caier, Chen Weijian; Wu Enfu; Yang Yunjun; Ye Min; Liu Zaiyi

    2007-01-01

    Objective: To examine the clinical manifestations and pulmonary radiological features in patients with triphosgene poisoning. Methods: Clinical manifestations, laboratory tests and CT scans were analyzed retrospectively in 17 patients with triphosgene poisoning. We focused on the severity, development and repair of pulmonary impairment. Results: Plain film and CT scans in five mild cases demonstrated bilateral scattered pulmonary patchy shadows. Of 12 cases with moderate to severe diseases, three showed bilateral multiple pulmonary patchy shadows and nodules with confluence of part of the lesions on plain film and CT scans; bilateral lungs were involved in nine cases with imaging findings of bilateral disseminated pulmonary round or ovary nodules with different size, ill-defined and partly-confluent patchy shadows and thickening of both interlobular septum and the wall of bronchus. Of clinical interests, imaging findings were closely correlated with clinical course and laboratory results. Conclusion: Radiological examinations with plain films and CT scans could reveal the severity, evolvement of pulmonary edema in patients with triphosgene poisoning, and these are of clinical benefit in the early management and prognostic evaluation of patients with triphosgene poisoning. (authors)

  11. Acute dacryocystitis: another clinical manifestation of sporotrichosis

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    Dayvison Francis Saraiva Freitas

    2014-04-01

    Full Text Available Sporotrichosis associated with exposure to domestic cats is hyperendemic in Rio de Janeiro, Brazil. A review of the clinical records at our institute revealed four patients with clinical signs of dacryocystitis and a positive conjunctival culture for Sporothrix who were diagnosed with Sporothrix dacryocystitis. Three patients were children (< 13 years of age and one patient was an adult. Two patients reported contact with a cat that had sporotrichosis. Dacryocystitis was associated with nodular, ulcerated lesions on the face of one patient and with granulomatous conjunctivitis in two patients; however, this condition manifested as an isolated disease in another patient. All of the patients were cured of the fungal infections, but three patients had chronic dacryocystitis and one patient developed a cutaneous fistula. Sporotrichosis is usually a benign disease, but may cause severe complications when the eye and the adnexa are affected. Physicians, especially ophthalmologists in endemic areas, should be aware of the ophthalmological manifestations and complications of sporotrichosis.

  12. Clinical Manifestations and Outcomes of West Nile Virus Infection

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    James J. Sejvar

    2014-02-01

    Full Text Available Since the emergence of West Nile virus (WNV in North America in 1999, understanding of the clinical features, spectrum of illness and eventual functional outcomes of human illness has increased tremendously. Most human infections with WNV remain clinically silent. Among those persons developing symptomatic illness, most develop a self-limited febrile illness. More severe illness with WNV (West Nile neuroinvasive disease, WNND is manifested as meningitis, encephalitis or an acute anterior (polio myelitis. These manifestations are generally more prevalent in older persons or those with immunosuppression. In the future, a more thorough understanding of the long-term physical, cognitive and functional outcomes of persons recovering from WNV illness will be important in understanding the overall illness burden.

  13. Unusual clinical manifestations of leptospirosis

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    Bal A

    2005-01-01

    Full Text Available Leptospirosis has protean clinical manifestations. The classical presentation of the disease is an acute biphasic febrile illness with or without jaundice. Unusual clinical manifestations may result from involvement of pulmonary, cardiovascular, neural, gastrointestinal, ocular and other systems. Immunological phenomena secondary to antigenic mimicry may also be an important component of many clinical features and may be responsible for reactive arthritis. Leptospirosis in early pregnancy may lead to fetal loss. There are a few reports of leptospirosis in HIV- infected individuals but no generalisation can be made due to paucity of data. It is important to bear in mind that leptospiral illness may be a significant component in cases of dual infections or in simultaneous infections with more than two pathogens.

  14. Joubert syndrome: Clinical manifestations and magnetic resonance imaging

    International Nuclear Information System (INIS)

    Kim, Seung Cheol; Kim, In One; Yoon, Yong Kyu; Yeon, Kyung Mo; Kim, Woo Sun; Song, Jong Gi; Hwang, Yong Seung

    1994-01-01

    Joubert syndrome presents neonatal respiratory abnormalities and other clinical manifestations. Pathologically the patients show hypoplasia or agenesis of cerebellar vermis and other intracranial anomalies. Our purpose is to evaluate the clinical manifestations and MR findings of Joubert syndrome. Among the patient presenting with clinical stigmata of Joubert syndrome and agenesis of vermis on MR imaging, eight patients who did not satisfied the criteria of Dandy-Walker malformation, tectocerebellar dysraphia and rhombencephalosynapsis were selected. MR findings and clinical manifestation were analyzed. On MR imaging, agenesis of the cerebellar vermis (all cases), hypoplasia of the cerebellar peduncle (6 cases), fourth ventricular contour deformity (6 cases), tentorial elevation (4 caes), deformity of the lateral ventricles (4 cases), dysgenesis of the straight sinus (3 cases) were demonstrated. Other findings were abnormalities of corpus callosum (3 cases), falx anomalies (3 case), occipital encephalomeningocele (2 cases) and fluid collection in posterior cranial fossa (2 cases). Clinical manifestations were developmental delay (5 cases), abnormal eyeball movement (3 cases), hypotonia (2 cases), neonatal respiratory abnormality (2 cases), etc. Joubert syndrome showed various clinical manifestations and intracranial anomalies. MR imaging is an useful modality in detection of the cerebellar vermian agenesis and other anomalies of the patients

  15. Clinical manifestations and managements in jellyfish envenomation A systematic review

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    Negar Taheri

    2013-11-01

    Full Text Available Background: The phylum Cnidarians have over nine thousand species that approximately, one hundred species are dangerous for humans. Annually, a large number of deaths were reported due to jellyfish stings. The manifestations depend on their species and kind of venoms, and include the local and systemic manifestations. A number of methods and compounds were used and under investigation for management of injuries with jellyfishes. Due to the lack of an integrated systematic review, the current study was done. Materials and Methods: The PubMed data bank was searched for the term “Jellyfish”. A total of 1677 papers were found. These papers were divided into three categories: medical, biomedical and biotechnological fields. The medical category was further divided into three subcategories comprising systemic manifestations, cutaneous manifestations and treatments for the stings of jellyfishes. The biomedical category was further subdivided into genomics, proteomics, and biology of venoms, mechanisms of actions and products of biomedical significance. In this part of systematic review, the medical aspects of injuries with jellyfishes were evaluated. Results: The clinical manifestations in jellyfish envenomation depend on their species and the nature of venoms. The most common clinical manifestations of jellyfish stings are cutaneous presentations like urticasia, erythema, swelling, vesicles and severe dermonectoric manifestations. Systemic manifestations were seen in the stings of box jellyfishes, Portuguese man-of-war and in Irukandji syndrome. The most common recommendations for jellyfish envenomation managements include decreasing the local effects of venom, prevention of the venomous nematocysts release, and Controlling of systemic reactions. Application of commercial vinegar (4 - 6% acetic acid, hot water immersion (HWI (42 ° C for 20 minutes, ice packs, sea water rinsing for inactivating nematocysts, administration of topical and parenteral

  16. [Streptococcus suis infection--clinical manifestations].

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    Dragojlović, Julijana; Milosević, Branko; Sasić, Neda; Pelemis, Mijomir; Sasić, Milan

    2005-01-01

    Streptococcus suis is a bacterium causing a disease in pigs and rarely in humans. This zoonosis is mostly found as a sporadic disease in individuals that were in contact with the affected or infected pigs: farmers, veterinarians and workers engaged in fresh pork processing. It is assumed that the bacterium enters the body through a cut abrasion in the skin. Initially, the condition resembles a flu, followed by signs of bacteriemia and sepsis. The most frequent clinical manifestation of Streptococcus suis infection is meningitis, leading to hearing loss in over 75% of patients, and subsequent arthritis, endophtalmitis, endocarditis and pneumonia. Toxic shock syndrome with hemorhagic manifestations rarely develops. This study included five male patients aged 22 to 63 years treated in the Intensive Care Unit of the Institute of Infectious and Tropical Diseases in Belgrade, due to Streptococcus suis infection. The aim of this study was to point to the existence of this bacteria in our environment, to describe clinical manifestations of the disease and to point out the importance of its prevention. All patients had epidemiological evidence of being in contact with pork meat. There were no data about diseased pigs. The estimated incubation period was 4 to 8 days. All patients had meningeal signs. Clinical symptoms included shivering, fever, vomiting, headache, malaise, vertigo and tinitus. Three patients presented with alerterd level of awarrness. Four patients developed very severe bilateral hearing impairment, whereas one endophtalmtis and one developed endocarditis. The cerebrospinal fluid (CSF) was opalescent in four patients, and only one patient presented with clear CSF. CSF examination showed typical changes characteristic for bacterial meningitis. Streptoccocus suis was isolated in CSF in all patients, and in one patient the bacteria was isolated in blood as well. All patients underwent treatement with II and III generation cephalosporins and one with one

  17. Unusual Manifestation of Severe Conjugated Hyperbilirubinemia in an Infant with Streptococcus pneumoniae-associated Hemolytic Uremic Syndrome

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    Jung-Pin Chen

    2007-01-01

    Full Text Available Streptococcus pneumoniae is an uncommon etiologic organism in children with hemolytic uremic syndrome (HUS. Historically, severe S. pneumoniae-associated HUS usually has a poor clinical outcome. The clinical manifestations of marked jaundice and hepatic dysfunction in this form of HUS are extremely rare. We report a 10-month-old female infant with S. pneumoniae-associated HUS who had the unusual manifestation of severely elevated conjugated bilirubin and hepatic transaminases. Screening for viral hepatitis was negative, and evidence of biliary obstruction and hepatotoxic drug exposure was also absent. The patient was treated with antihypertensive agents for 2.5 months and required peritoneal dialysis for a period of 26 days. Hepatic function returned to normal on the 8th day of hospitalization. Renal function was mildly impaired at 1-year follow-up. Our report suggests that severe conjugated hyperbilirubinemia is a rare manifestation of S. pneumoniae-associated HUS in children. It is important for pediatricians that pneumococcal infection with severe hematologic and renal disorders should be investigated for evidence of S. pneumoniae-associated HUS. [J Formos Med Assoc 2007;106(2 Suppl:S17-S22

  18. Clinical profile and warning sign finding in children with severe dengue and non-severe dengue

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    Adam, A. S.; Pasaribu, S.; Wijaya, H.; Pasaribu, A. P.

    2018-03-01

    Dengue fever is one of the most important emerging vector-borne viral diseases. Approximately 500,000 out of 100 million cases develop to severe dengue infection. Patient with severe dengue (SD) can be predicted by clinical profile, laboratory and warning sign which could be saved by early interventions.This was a retrospective descriptive-analytic study to investigate clinical manifestations, laboratory and warning signs ofchildren with dengue infection in Haji Adam Malik hospital during January 2014–May 2016. Through medical records, we had selected 140 cases which fulfilled research criteria.Cases were classified as SD (n=28) and NSD (n=112). Most common clinical manifestations for NSD were abdominal pain (39.3%), myalgia (39.3%), headache (37.1%), mucosal bleeding (36.4%) while for SD were shock (15.7%), mucosal bleeding (15.7%), clinical fluid accumulation (15%), shortness of breath (14.3%). SGPT >1000IU/L (5 cases), SGOT >1000IU/L (9 cases), PT (10 cases) and aPTT (16 cases) were abnormal in SD. Severe dengue was frequently found in the range of white cell count 1000-4000/L and platelet count 20,000-50,000mm/uL. Clinical manifestations, warning sign, and laboratoryfinding, were different between SD and NSD.

  19. Enterovirus infections in Singaporean children: an assessment of neurological manifestations and clinical outcomes.

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    Thong, Wen Yi; Han, Audrey; Wang, S J Furene; Lin, Jeremy; Isa, Mas Suhaila; Koay, Evelyn Siew Chuan; Tay, Stacey Kiat-Hong

    2017-04-01

    Enterovirus infections in childhood can be associated with significant neurological morbidity. This study aimed to describe the prevalence and range of neurological manifestations, determine the clinical characteristics and assess differences in clinical outcomes for Singaporean children diagnosed with enterovirus infections. In this single-centre, case-control study, clinical data was collected retrospectively from patients admitted to National University Hospital, Singapore, from August 2007 to October 2011 and diagnosed with enterovirus infection, based on the enterovirus polymerase chain reaction test, or cultures from throat and rectal swabs or cerebrospinal fluid samples. The occurrence of neurological manifestations was reviewed and clinical outcomes were assessed. A total of 48 patients (age range: six days-17.8 years) were included in the study. Neurological manifestations were seen in 75.0% of patients, 63.9% of whom presented with aseptic meningitis. Other neurological manifestations included encephalitis, acute cerebellitis, transverse myelitis and autonomic dysfunction. The incidence of neurological manifestations was significantly higher in patients aged > 1 year as compared to younger patients (p = 0.043). In patients without neurological manifestations, a significantly higher proportion presented with hand, foot and mouth disease and poor feeding. Long-term neurological sequelae were seen in 16.7% of patients with neurological manifestations. A wide spectrum of neurological manifestations resulting in a relatively low incidence of long-term neurological sequelae was observed in our study of Singaporean children with enterovirus infections. As some of these neurological morbidities were severe, careful evaluation of children with neurological involvement is therefore necessary. Copyright: © Singapore Medical Association

  20. Bilingualism delays clinical manifestation of Alzheimer's disease

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    Woumans, Evy; Santens, Patrick; Sieben, Anne; Versijpt, Jan; Stevens, Michaël; Duyck, Wouter

    2015-01-01

    The current study investigated the effects of bilingualism on the clinical manifestation of Alzheimer's disease (AD) in a European sample of patients. We assessed all incoming AD patients in two university hospitals within a specified timeframe. Sixty-nine monolinguals and 65 bilinguals diagnosed with probable AD were compared for time of clinical AD manifestation and diagnosis. The influence of other potentially interacting variables was also examined. Results indicated a significant delay f...

  1. Clinical manifestations of scrub typhus.

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    Rajapakse, Senaka; Weeratunga, Praveen; Sivayoganathan, Sriharan; Fernando, Sumadhya Deepika

    2017-02-01

    The mite-borne rickettsial zoonosis scrub typhus is widely prevalent in parts of Southeast and Far East Asia, and northern Australia. The disease is an acute febrile illness, associated with rash and often an eschar, which responds dramatically to treatment with antibiotics. In some cases it results in a serious illness leading to multiple organ involvement and death. The disease manifestations are thought to result from a systemic vasculitis, caused by both direct effects of the organisms as well as an exaggerated immune response, although little is understood about its pathogenesis. A wide spectrum of clinical manifestations, affecting nearly every organ system, have been described with scrub typhus. Some of these manifestations are serious and life threatening. In this systematic review, we summarise the typical and atypical manifestations of scrub typhus reported in the literature. Awareness of these unusual manifestations will hopefully guide clinicians towards diagnosing the condition early, and initiating early appropriate antibiotics and other supportive measures. © The Author 2017. Published by Oxford University Press on behalf of Royal Society of Tropical Medicine and Hygiene. All rights reserved. For permissions, please e-mail: journals.permissions@oup.com.

  2. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

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    Nakamura, Yutaro; Suda, Takafumi

    2015-01-01

    Idiopathic pulmonary fibrosis (IPF) is a parenchymal lung disease characterized by progressive interstitial fibrosis. The clinical course of IPF can be unpredictable and may be punctuated by acute exacerbations. Although much progress is being made in unraveling the mechanisms underlying IPF, effective therapy for improving survival remains elusive. Longitudinal disease profiling, especially in terms of clinical manifestations in a large cohort of patients, should lead to proper management of the patients and development of new treatments for IPF. Appropriate multidisciplinary assessment in ongoing registries is required to achieve this. This review summarizes the current status of the diagnosis and clinical manifestations of IPF. PMID:27625576

  3. [Clinical manifestation and cytogenetic analysis of 607 patients with Turner syndrome].

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    Zheng, Jiemei; Liu, Zhiying; Xia, Pei; Lai, Yi; Wei, Yangjun; Liu, Yanyan; Chen, Jiurong; Qin, Li; Xie, Liangyu; Wang, He

    2017-02-10

    To explore the correlation between cytogenetic findings and clinical manifestations of Turner syndrome. 607 cases of cytogenetically diagnosed Turner syndrome, including those with a major manifestation of Turner syndrome, were analyzed with conventional G-banding. Correlation between the karyotypes and clinical features were analyzed. Among the 607 cases, there were 154 cases with monosomy X (25.37%). Mosaicism monosomy X was found in 240 patients (39.54%), which included 194 (80.83%) with a low proportion of 45,X (3 ≤ the number of 45, X ≤5, while the normal cells ≥ 30). Structural X chromosome abnormalities were found in 173 patients (28.50%). A supernumerary marker chromosome was found in 40 cases (6.59%). Most patients with typical manifestations of Turner syndrome were under 11 years of age and whose karyotypes were mainly 45,X. The karyotype of patients between 11 and 18 years old was mainly 45,X, 46,X,i(X)(q10) and mos45,X/46,X,i(X)(q10), which all had primary amenorrhea in addition to the typical clinical manifestations. The karyotype of patients over 18 years of age were mainly mosaicism with a low proportion of 45,X, whom all had primary infertility. 53 patients had a history of pregnancy, which included 48 with non-structural abnormalities of X chromosome and 5 with abnormal structure of X chromosome. Generally, the higher proportion of cells with an abnormal karyotype, the more severe were the clinical symptoms and the earlier clinical recognition. Karyotyping analysis can provide guidance for the early diagnosis of Turner syndrome, especially those with a low proportion of 45,X.

  4. [Lyme disease--clinical manifestations and treatment].

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    Stock, Ingo

    2016-05-01

    Lyme disease (Lyme borreliosis) is a systemic infectious disease that can present in a variety of clinical manifestations. The disease is caused by a group of spirochaetes--Borrelia burgdorferi sensu lato or Lyme borrelia--that are transmitted to humans by the bite of Ixodes ticks. Lyme disease is the most common arthropode-borne infectious disease in many European countries including Germany. Early localized infection is typically manifested by an erythema migrans skin lesion, in rarer cases as a borrelial lymphocytoma. The most common early disseminated manifestation is (early) neuroborreliosis. In adults, neuroborreliosis appears typically as meningoradiculoneuritis. Neuroborreliosis in children, however, is typically manifested by meningitis. In addition, multiple erythema migrans lesions and Lyme carditis occur relatively frequently. The most common manifestation oflate Lyme disease is Lyme arthritis. Early manifestations (and usually also late manifestations) of Lyme disease can be treated successfully by application of suitable antibacterial agents. For the treatment of Lyme disease, doxycycline, certain penicillins such as amoxicillin and some cephalosporins (ceftriaxone, cefotaxime, cefuroxime axetil) are recommended in current guidelines. A major challenge is the treatment of chronic, non-specific disorders, i. e., posttreatment Lyme disease syndrome and "chronic Lyme disease". Prevention of Lyme disease is mainly accomplished by protecting against tick bites. Prophylactic administration of doxycycline after tick bites is generally not recommended in Germany. There is no vaccine available for human beings.

  5. Clinical Manifestations and Diagnosis of Acromegaly

    OpenAIRE

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Ac...

  6. Clinical manifestations of acute asthma in children at the Department of Child Health Cipto Mangunkusumo Hospital

    OpenAIRE

    Kadek Ayu Lestari; Imam Budiman; Sudigdo Sastroasmoro

    2016-01-01

    Background Acute asthma is an asthma attack or worsening of asthma manifestation and pulmonary function. Severe asthma at- tack might be prevented by early recognition of the attack and ap- propriate therapy. Clinical manifestations of asthma in children vary widely, so does the assessment of the attack that is often not accu- rately defined by doctors. This leads to delayed and inadequate treatment of the attack. Objective This study aimed to know the clinical manifestat...

  7. Stroke in systemic lupus erythematosus and antiphospholipid syndrome: risk factors, clinical manifestations, neuroimaging, and treatment.

    Science.gov (United States)

    de Amorim, L C D; Maia, F M; Rodrigues, C E M

    2017-04-01

    Neurologic disorders are among the most common and important clinical manifestations associated with systemic lupus erythematosus (SLE) and antiphospholipid syndrome (APS), mainly those that affect the central nervous system (CNS). Risk of cerebrovascular events in both conditions is increased, and stroke represents one of the most severe complications, with an incidence rate between 3% and 20%, especially in the first five years of diagnosis. This article updates the data regarding the risk factors, clinical manifestations, neuroimaging, and treatment of stroke in SLE and APS.

  8. Graduated clinical manifestations according to mutation type in patients with severe myoclonic epilepsy in infancy

    DEFF Research Database (Denmark)

    Brusgaard, Klaus; Møller, Rikke Steensbjerre; Dahl, Hans Atli

    . Later, patients also manifest other seizure types, including absence, myoclonic, and simple and complex partial seizures. Psychomotor development stagnates around the second year of life. SME is considered to be the most severe phenotype within the spectrum of GEFS+. SME is a malignant epileptic...... and intractable childhood epilepsy with generalized tonic-clonic seizures (ICE-GTC) at the severe end Patients and methods 87 infants representing GEFS+ were analyzed by bidirectional sequencing of all exons of the SCN1A, SCN2A, GABRG2 or SCN1B genes. Additionally, MLPA analysis of SCN1A was performed. Results...... to the SMEI phenotype represent de novo incidences....

  9. Extraintestinal manifestations were common in children with coeliac disease and were more prevalent in patients with more severe clinical and histological presentation.

    Science.gov (United States)

    Nurminen, Samuli; Kivelä, Laura; Huhtala, Heini; Kaukinen, Katri; Kurppa, Kalle

    2018-03-22

    This study investigated the prevalence of extraintestinal manifestations (EIM) in paediatric coeliac disease and their associations with other disease features. Researchers at the University of Tampere, Finland, compared EIM in 511 children diagnosed with coeliac disease from 2003 to 2014 and 180 diagnosed with functional gastrointestinal disorders from 2007 to 2013. Disease severity and dietary responses were also compared between coeliac children diagnosed by screening (n = 146) or because of EIM (n = 116) or gastrointestinal symptoms (n = 249). Coeliac patients had more EIM (62%) than those with functional disorders (33%). The most common EIM in coeliac children were poor growth (27%) and anaemia (18%). Children with coeliac disease often showed fatigue (8%) and symptoms affecting the skin (15%), nervous system (9%) and joints (6%). Coeliac patients with EIM as their main clinical presentation had more severe symptoms and histological damage at diagnosis than those with gastrointestinal presentation and screen-detected cases. The subgroups did not differ with regard to other clinical and laboratory parameters and dietary adherence. Concomitant EIM were also common in children diagnosed because of gastrointestinal presentation (60%) and by screening (37%). EIM were common in coeliac disease and associated with more severe clinical and histological presentation. ©2018 Foundation Acta Paediatrica. Published by John Wiley & Sons Ltd.

  10. Patterns of clinical mastitis manifestations in Danish organic dairy herds

    DEFF Research Database (Denmark)

    Vaarst, Mette; Enevoldsen, C.

    1997-01-01

    and identifying characteristic patterns in these results. Clinical signs, inflammatory reactions and microbiological identifications were obtained from 367 cases of clinical mastitis occurring over 18 months. Cow characteristics and preincident values such as milk yield and somatic cell count were obtained...... for each cow. Signs of previous udder inflammation were present in two-thirds of the clinical mastitis cases. Severe local inflammatory reactions were found in 21% of the cases and some indication of generalized signs such as fever and reduced appetite were found in 35% of the cases. Logistic regression....... Streptococcus dysgalactiae (9% of the cases) mastitis was typically persistent, virulent and manifest in periods of lower cow resistance. More patterns of subclinical and clinical Str. uberis mastitis (23% of the cases) seemed to be present....

  11. A severe case of erythrodermic psoriasis associated with advanced nail and joint manifestations: a case report

    Directory of Open Access Journals (Sweden)

    Balderrama Carola

    2010-06-01

    Full Text Available Abstract Introduction Erythrodermic psoriasis is a rare generalized clinical presentation of psoriasis in children and adults. Its systemic involvement and a diverse range of clinical findings in the joint and nails are commonly described. A high index of suspicion and an exhaustive differential diagnosis involving other causes of erythroderma should be initially considered. Case presentation We present the case of a 9-year-old native Hispanic girl with severe erythrodermic psoriasis associated with uncommon advanced nail and joint manifestations. Our patient showed an excellent response to methotrexate medication. Conclusion This case shows clinical features not commonly described or reported in severe cases of erythrodermic psoriasis, including severe and rare nail and arthritic findings in a pediatric scenario.

  12. [The relationship between extraesophageal manifestations of gastroesophageal reflux disease, the frequency of heartburn and severity of oesophagitis].

    Science.gov (United States)

    2011-01-01

    We performed clinico-epidemiologic screening for the heartburn in a representative sample from a total of 1138 subjects and for oesophagitis from 371 ones. In a separate study 120 patients were divided into groups differing in the severity of oesophagitis based on the Savary-Miller classification. The extraesophageal manifestations were diagnosed by clinical and instrumental methods. The close relationship of these manifestations with heartburn and oesophagitis was more pronounced in men than in women. Enhanced severity of the lesions in eosophageal mucosa in patients with oesophagitis was related to increased frequency of ENT diseases and cardialgia but not respiratory disorders. The data obtained give evidence of direct association of heartburn and eosophagitis with coughing, ENT diseases and cardialgia.

  13. Clinical manifestations and diagnosis of acromegaly.

    Science.gov (United States)

    Lugo, Gloria; Pena, Lara; Cordido, Fernando

    2012-01-01

    Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.

  14. Clinical Manifestations and Diagnosis of Acromegaly

    Directory of Open Access Journals (Sweden)

    Gloria Lugo

    2012-01-01

    Full Text Available Acromegaly and gigantism are due to excess GH production, usually as a result of a pituitary adenoma. The incidence of acromegaly is 5 cases per million per year and the prevalence is 60 cases per million. Clinical manifestations in each patient depend on the levels of GH and IGF-I, age, tumor size, and the delay in diagnosis. Manifestations of acromegaly are varied and include acral and soft tissue overgrowth, joint pain, diabetes mellitus, hypertension, and heart and respiratory failure. Acromegaly is a disabling disease that is associated with increased morbidity and reduced life expectancy. The diagnosis is based primarily on clinical features and confirmed by measuring GH levels after oral glucose loading and the estimation of IGF-I. It has been suggested that the rate of mortality in patients with acromegaly is correlated with the degree of control of GH. Adequately treated, the relative mortality risk can be markedly reduced towards normal.

  15. Clinical and imaging manifestations of adult mitochondrial encephalomyopathy

    International Nuclear Information System (INIS)

    Xing Haifang; Dai Jianping; Gao Peiyi; Li Shaowu; Ren Haitao; Zhu Mingwang; Wang Qinghe

    2005-01-01

    Objective: To investigate clinical manifestations and neuroimaging in the adult patients with mitochondrial encephalomyopathy (ME). Methods: Systematic study was performed on the clinical features of six adult patients with ME with observations on electromyogram (EMG), electroencephalogram (EEG), the blood lactic acid level, muscle biopsies results and neuroimaging features of CT and MRI. Results: The main clinical features were characterized by seizures, intolerance to exercise, audio-visual dysfunction, mental retardation, and so forth. EMG showed neurogenic damages (4/5 cases); EEG showed extensive mild to severe abnormal activities (3/3 cases) and lactic acidosis was also observed (4 /4 cases). Neuroimaging findings included symmetric supratentorial multi foci lesions, located in frontal, temporal, parietal, and occipital lobes, thalami and basal ganglia with widening of ventricles and cerebral atrophy; the neuroimaging findings also included hyperintensity on T 2 -weighted images and hypointensity/ isointensity on T 1 -weighted images; No stenosis and occlusion of main artery was displayed by magnetic resonance angiography (MRA). Muscle biopsies showed red ragged fiber (RRF) (4/6 cases). Conclusions: Based on clinical features and neuroimaging, diagnosis of ME in early stage may be made in combination with muscle biopsy. (authors)

  16. The prevalence of clinically diagnosed ankylosing spondylitis and its clinical manifestations

    DEFF Research Database (Denmark)

    Exarchou, Sofia; Lindström, Ulf; Askling, Johan

    2015-01-01

    -economic factors, and according to subgroups with ankylosing spondylitis-related clinical manifestations and pharmacological treatment. METHODS: All individuals diagnosed with ankylosing spondylitis according to the World Health Organization International Classification of Disease codes, between 1967 and 2009......, were identified from the National Patient Register. Data regarding disease manifestations, patient demographics, level of education, pharmacological treatment, and geographical region were retrieved from the National Patient Register and other national registers. RESULTS: A total of 11,030 cases...... prevalence of ankylosing spondylitis (0.23% versus 0.14%, P uveitis (25.5% versus 20.0%, P 

  17. Hemoglobinopathies: clinical manifestations, diagnosis, and treatment.

    Science.gov (United States)

    Kohne, Elisabeth

    2011-08-01

    Hemoglobinopathies are among the most common inherited diseases around the world. They have become much more common recently in northern and central Europe, including Germany, due to immigration. Selective review of the literature with consideration of national guidelines. The hemoglobinopathies encompass all genetic diseases of hemoglobin. They fall into two main groups: thalassemia syndromes and structural hemoglobin variants (abnormal hemoglobins). α- and β-thalassemia are the main types of thalassemia; the main structural hemoglobin variants are HbS, HbE and HbC. There are many subtypes and combined types in each group. The highly variable clinical manifestations of the hemoglobinopathies range from mild hypochromic anemia to moderate hematological disease to severe, lifelong, transfusion-dependent anemia with multiorgan involvement. Stem-cell transplantation is the preferred treatment for the severe forms of thalassemia. Supportive, rather than curative, treatment consists of periodic blood transfusions for life, combined with iron chelation. Drugs to treat the symptoms of sickle-cell disease include analgesics, antibiotics, ACE inhibitors and hydroxyurea. Blood transfusions should be given only when strictly indicated. More than 90% of patients currently survive into adulthood. Optimally treated patients have a projected life span of 50 to 60 years. Hemoglobinopathies are a public health issue in today's multiethnic German population. Adequate care of the affected patients requires a wide variety of diagnostic and therapeutic measures.

  18. Clinical manifestations of tension pneumothorax: protocol for a systematic review and meta-analysis

    Science.gov (United States)

    2014-01-01

    Background Although health care providers utilize classically described signs and symptoms to diagnose tension pneumothorax, available literature sources differ in their descriptions of its clinical manifestations. Moreover, while the clinical manifestations of tension pneumothorax have been suggested to differ among subjects of varying respiratory status, it remains unknown if these differences are supported by clinical evidence. Thus, the primary objective of this study is to systematically describe and contrast the clinical manifestations of tension pneumothorax among patients receiving positive pressure ventilation versus those who are breathing unassisted. Methods/Design We will search electronic bibliographic databases (MEDLINE, PubMed, EMBASE, and the Cochrane Database of Systematic Reviews) and clinical trial registries from their first available date as well as personal files, identified review articles, and included article bibliographies. Two investigators will independently screen identified article titles and abstracts and select observational (cohort, case–control, and cross-sectional) studies and case reports and series that report original data on clinical manifestations of tension pneumothorax. These investigators will also independently assess risk of bias and extract data. Identified data on the clinical manifestations of tension pneumothorax will be stratified according to whether adult or pediatric study patients were receiving positive pressure ventilation or were breathing unassisted, as well as whether the two investigators independently agreed that the clinical condition of the study patient(s) aligned with a previously published tension pneumothorax working definition. These data will then be summarized using a formal narrative synthesis alongside a meta-analysis of observational studies and then case reports and series where possible. Pooled or combined estimates of the occurrence rate of clinical manifestations will be calculated using

  19. Atypical Clinical Manifestations of Graves' Disease: An Analysis in Depth

    Science.gov (United States)

    Hegazi, Mohamed Osama; Ahmed, Sherif

    2012-01-01

    Over the past few decades, there has been an increase in the number of reports about newly recognized (atypical or unusual) manifestations of Graves' disease (GD), that are related to various body systems. One of these manifestations is sometimes the main presenting feature of GD. Some of the atypical manifestations are specifically related to GD, while others are also similarly seen in patients with other forms of hyperthyroidism. Lack of knowledge of the association between these findings and GD may lead to delay in diagnosis, misdiagnosis, or unnecessary investigations. The atypical clinical presentations of GD include anemia, vomiting, jaundice, and right heart failure. There is one type of anemia that is not explained by any of the known etiological factors and responds well to hyperthyroidism treatment. This type of anemia resembles anemia of chronic disease and may be termed GD anemia. Other forms of anemia that are associated with GD include pernicious anemia, iron deficiency anemia of celiac disease, and autoimmune hemolytic anemia. Vomiting has been reported as a presenting feature of Graves' disease. Some cases had the typical findings of hyperthyroidism initially masked, and the vomiting did not improve until hyperthyroidism has been detected and treated. Hyperthyroidism may present with jaundice, and on the other hand, deep jaundice may develop with the onset of overt hyperthyroidism in previously compensated chronic liver disease patients. Pulmonary hypertension is reported to be associated with GD and to respond to its treatment. GD-related pulmonary hypertension may be so severe to produce isolated right-sided heart failure that is occasionally found as the presenting manifestation of GD. PMID:22132347

  20. Clinical manifestations of canine distemper in Nigerian dogs ...

    African Journals Online (AJOL)

    Twenty dogs of local breeds found in Nigeria, experimentally infected with local isolate of canine distemper virus, manifested fever, conjunctivitis, photophobia salivation, anorexia, dermatitis, and diarrhoea. Apart from these clinical signs already described for the disease in other breeds of dogs,45% of the dogs showed ...

  1. Specificity of the STAT4 Genetic Association for Severe Disease Manifestations of Systemic Lupus Erythematosus

    Science.gov (United States)

    Taylor, Kimberly E.; Remmers, Elaine F.; Lee, Annette T.; Ortmann, Ward A.; Plenge, Robert M.; Tian, Chao; Chung, Sharon A.; Nititham, Joanne; Hom, Geoffrey; Kao, Amy H.; Demirci, F. Yesim; Kamboh, M. Ilyas; Petri, Michelle; Manzi, Susan; Kastner, Daniel L.; Seldin, Michael F.; Gregersen, Peter K.; Behrens, Timothy W.; Criswell, Lindsey A.

    2008-01-01

    Systemic lupus erythematosus (SLE) is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region genotyped in 4 independent SLE case series (total n = 1398) and 2560 healthy controls, along with clinical data for the cases. Using conditional testing, we confirmed the most significant STAT4 haplotype for SLE risk. We then studied a SNP marking this haplotype for association with specific SLE subphenotypes, including autoantibody production, nephritis, arthritis, mucocutaneous manifestations, and age at diagnosis. To prevent possible type-I errors from population stratification, we reanalyzed the data using a subset of subjects determined to be most homogeneous based on principal components analysis of genome-wide data. We confirmed that four SNPs in very high LD (r2 = 0.94 to 0.99) were most strongly associated with SLE, and there was no compelling evidence for additional SLE risk loci in the STAT4 region. SNP rs7574865 marking this haplotype had a minor allele frequency (MAF) = 31.1% in SLE cases compared with 22.5% in controls (OR = 1.56, p = 10−16). This SNP was more strongly associated with SLE characterized by double-stranded DNA autoantibodies (MAF = 35.1%, OR = 1.86, p<10−19), nephritis (MAF = 34.3%, OR = 1.80, p<10−11), and age at diagnosis<30 years (MAF = 33.8%, OR = 1.77, p<10−13). An association with severe nephritis was even more striking (MAF = 39.2%, OR = 2.35, p<10−4 in the homogeneous subset of subjects). In contrast, STAT4 was less strongly associated with oral ulcers, a manifestation associated with milder disease. We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease. PMID

  2. Specificity of the STAT4 genetic association for severe disease manifestations of systemic lupus erythematosus.

    Directory of Open Access Journals (Sweden)

    Kimberly E Taylor

    2008-05-01

    Full Text Available Systemic lupus erythematosus (SLE is a genetically complex disease with heterogeneous clinical manifestations. A polymorphism in the STAT4 gene has recently been established as a risk factor for SLE, but the relationship with specific SLE subphenotypes has not been studied. We studied 137 SNPs in the STAT4 region genotyped in 4 independent SLE case series (total n = 1398 and 2560 healthy controls, along with clinical data for the cases. Using conditional testing, we confirmed the most significant STAT4 haplotype for SLE risk. We then studied a SNP marking this haplotype for association with specific SLE subphenotypes, including autoantibody production, nephritis, arthritis, mucocutaneous manifestations, and age at diagnosis. To prevent possible type-I errors from population stratification, we reanalyzed the data using a subset of subjects determined to be most homogeneous based on principal components analysis of genome-wide data. We confirmed that four SNPs in very high LD (r(2 = 0.94 to 0.99 were most strongly associated with SLE, and there was no compelling evidence for additional SLE risk loci in the STAT4 region. SNP rs7574865 marking this haplotype had a minor allele frequency (MAF = 31.1% in SLE cases compared with 22.5% in controls (OR = 1.56, p = 10(-16. This SNP was more strongly associated with SLE characterized by double-stranded DNA autoantibodies (MAF = 35.1%, OR = 1.86, p<10(-19, nephritis (MAF = 34.3%, OR = 1.80, p<10(-11, and age at diagnosis<30 years (MAF = 33.8%, OR = 1.77, p<10(-13. An association with severe nephritis was even more striking (MAF = 39.2%, OR = 2.35, p<10(-4 in the homogeneous subset of subjects. In contrast, STAT4 was less strongly associated with oral ulcers, a manifestation associated with milder disease. We conclude that this common polymorphism of STAT4 contributes to the phenotypic heterogeneity of SLE, predisposing specifically to more severe disease.

  3. The role of diabetes on the clinical manifestations of pulmonary tuberculosis

    DEFF Research Database (Denmark)

    Faurholt-Jepsen, Daniel; Range, Nyagosya; PrayGod, George Amani

    2012-01-01

    Objective: Diabetes is associated with pulmonary tuberculosis (TB), possibly due to impaired immunity, and diabetes may exacerbate the clinical manifestations of TB. Our aim was to assess the role of diabetes in the clinical manifestations of TB. Methods: We studied 1250 patients with pulmonary TB...... in an urban population in a cross-sectional study in Tanzania. All participants were tested for diabetes and HIV co-infection, and TB culture intensity was assessed. Levels of white blood cells, haemoglobin, acute phase reactants, CD4 count and HIV viral load were measured, and a qualitative morbidity...

  4. [Relevance of drug use in clinical manifestations of schizophrenia].

    Science.gov (United States)

    Arias Horcajadas, F; Sánchez Romero, S; Padín Calo, J J

    2002-01-01

    To study the association between drugs use with schizophrenia clinical manifestations. The sample consists of 82 out-patients with schizophrenia, between 18 and 45 years old. They were evaluated with Addiction Severity Index (ASI) and with Positive and Negative Syndrome Scale (PANSS). A 6 months follow up was carried out. 37,8% patients had lifetime drug dependence (including alcohol and others drugs except for tobacco). The prevalence of dependence for the different drugs were: opioids 9,8%, cocaine 11%, alcohol 29,3%, cannabis 24,4%, tobacco 68,3%, caffeine 15,9%. Drug dependent had more family and legal problems. At the multiple regression analysis it was observed that cannabis and tobacco dependence was associated with a decrease in the PANSS negative symptoms subscale, and on the contrary, alcohol dependence produces a similar intensity increase at that scoring. We don't detect any clinical relevance effects over positive symptoms. Cannabis and tobacco may improve schizophrenia negative symptoms or neuroleptic secondary effects or patients with few negative symptoms may have more predisposition to the use, on the contrary alcohol use can impairment those symptoms.

  5. Clinical manifestation, serology marker & microscopic agglutination test (MAT) to mortality in human leptospirosis

    Science.gov (United States)

    Perdhana, S. A. P.; Susilo, R. S. B.; Arifin; Redhono, D.; Sumandjar, T.

    2018-03-01

    Leptospirosis is a potentially fatal zoonosis that is endemic in many tropical regions and causes large epidemics after heavy rainfall and flooding. Severe disease is estimated 5–15% of all human infections. Its mortality rate is 5-40%. MAT, isolation of the organism, or leptospiral DNA in PCR are used to confirm Leptospirosis. This cross-sectional analytic study recruited 26 hospitalized leptospirosis patients admitted to Dr. Moewardi Hospital Surakarta. The diagnosis was based on clinical, laboratory and epidemiological findings. The onset of the disease was the date when the first symptom started, and the end of the analysis was the date when the patient died or discharged. Modified Faine’s score ≥ 25 tend to die (45.5%) while modified Faine’s score 20 – 24 tend to heal (60%) (OR 1.250; CI 0.259-6.029; p=1.0). Seropositive IgM predicts mortality 7.8 times higher than seronegative IgM (OR 7.800; CI 1.162-52.353; p=0.038). MAT positive predict mortality 10.667 times higher than MAT negative (OR 10.667; CI 1.705-66.720; p=0.015). Clinical manifestation, MAT, and serologic marker are all correlated with mortality in Leptospirosis. However, statistically, clinical manifestation has an insignificant correlation.

  6. Antiphospholipid antibody: laboratory, pathogenesis and clinical manifestations

    Directory of Open Access Journals (Sweden)

    T. Ziglioli

    2011-06-01

    Full Text Available Antiphospholipid antibodies (aPL represent a heterogeneous group of antibodies that recognize various antigenic targets including beta2 glycoprotein I (β2GPI, prothrombin (PT, activated protein C, tissue plasminogen activator, plasmin and annexin A2. The most commonly used tests to detect aPL are: lupus anticoagulant (LAC, a functional coagulation assay, anticardiolipin antibody (aCL and anti-β2GPI antibody (anti-β2GPI, which are enzyme-linked immunoassay (ELISA. Clinically aPL are associated with thrombosis and/or with pregnancy morbidity. Apparently aPL alone are unable to induce thrombotic manifestations, but they increase the risk of vascular events that can occur in the presence of another thrombophilic condition; on the other hand obstetrical manifestations were shown to be associated not only to thrombosis but mainly to a direct antibody effect on the trophoblast.

  7. Beyond the CRAB symptoms: a study of presenting clinical manifestations of multiple myeloma.

    Science.gov (United States)

    Talamo, Giampaolo; Farooq, Umar; Zangari, Maurizio; Liao, Jason; Dolloff, Nathan G; Loughran, Thomas P; Epner, Elliot

    2010-12-01

    Although the typical clinical manifestations of multiple myeloma (MM) are summarized by the CRAB symptoms (hypercalcemia, renal insufficiency, anemia, and bone lesions), a significant proportion of patients with MM present with a variety of other clinical manifestations. We conducted a study evaluating the presenting symptoms that led to the diagnosis of MM. We conducted a retrospective review of 170 consecutive patients with MM seen at the Penn State Hershey Cancer Institute. Among patients with symptomatic MM, 74% presented with CRAB symptoms, 20% presented with non-CRAB manifestations, and 6% had both clinical features. Ten categories of non-CRAB manifestations were found, in order of decreasing frequency: neuropathy (because of spinal cord compression, nerve root compression, or peripheral neuropathy), extramedullary involvement, hyperviscosity syndrome, concomitant amyloidosis (eg, nephrotic syndrome or cardiopathy), hemorrhage/coagulopathy, systemic symptoms (eg, fever or weight loss), primary plasma cell leukemia, infections, cryoglobulinemia, and secondary gout. Kaplan-Meier estimates of survival in patients with non-CRAB manifestations did not show a significant difference from the survival of patients presenting with CRAB symptoms. Presenting symptoms of MM may be grouped in a total of 14 categories, 4 for the CRAB and 10 for the less common non-CRAB features. Grouped together, non-CRAB manifestations do not appear to confer a negative effect on the prognosis of patients with MM.

  8. Clinical Manifestations of Nontyphoid Salmonellosis in Children Younger than 2 Years Old—Experiences of a Tertiary Hospital in Southern Taiwan

    Directory of Open Access Journals (Sweden)

    I-Fei Huang

    2012-06-01

    Conclusion: The clinical manifestations of nontyphoid salmonellosis are more severe in younger children <2 years of age than older children. Local susceptibility patterns could serve as a guide for the prescription of antibiotics by clinicians.

  9. Neuropsychiatric manifestations of scrub typhus

    Directory of Open Access Journals (Sweden)

    Sanjay K Mahajan

    2017-01-01

    Full Text Available Scrub typhus is caused by Orientia tsutsugamushi characterized by focal or disseminated vasculitis and perivasculitis which may involve the lungs, heart, liver, spleen and central nervous system. It was thought to have been eradicated from India. Recently it is being reported from many areas of India. The clinical picture and severity of the symptoms varies widely. The neurological manifestations of scrub typhus are not uncommon but are diverse. Meningoencephalitis is classical manifestation of scrub typhus but cerebellitis, cranial nerve palsies, plexopathy, transverse myelitis, neuroleptic malignant syndrome and Guillan-Barré syndrome are other manifestations reported in literature. The availability of literature on the neurological manifestations of scrub typhus is limited to case reports mainly. This article reviews various neurological manifestations of scrub typhus reported in literature.

  10. Clinical manifestations and outcomes of severe malaria among ...

    African Journals Online (AJOL)

    admitted children with severe malaria there is a need for health providers to deploy strategic management of fatal prognostic factors. In conclusion ..... Umulisa, N., Uwimana, A., Mokuolu, O.A., Adedoyin, O.T., Johnson, W.B.R.,. Tshefu, A.K. ...

  11. Clinical Manifestations and Management of Left Ventricular Assist Device–Associated Infections

    OpenAIRE

    Nienaber, Juhsien Jodi C.; Kusne, Shimon; Riaz, Talha; Walker, Randall C.; Baddour, Larry M.; Wright, Alan J.; Park, Soon J.; Vikram, Holenarasipur R.; Keating, Michael R.; Arabia, Francisco A.; Lahr, Brian D.; Sohail, M. Rizwan

    2013-01-01

    We report the clinical manifestations and management of continuous-flow left ventricular assist device (LVAD) infections from a large multicenter cohort. On the basis of these observations, a management algorithm is derived to assist clinical decision making for LVAD infection.

  12. Clinical Manifestations of Campylobacter concisus Infection in Children

    DEFF Research Database (Denmark)

    Nielsen, Hans Linde; Engberg, Jørgen; Ejlertsen, Tove

    2013-01-01

    BACKGROUND:: There is only sparse information about the clinical impact of Campylobacter concisus infections in children. METHODS:: A study was performed during a two-year period to determine the clinical manifestations in C. concisus positive children with gastroenteritis. A case patient...... for more than two weeks and two-thirds of all children with C. concisus reported loose stools after six month follow-up. CONCLUSIONS:: Campylobacter concisus infection in children seems to have a milder course of acute gastroenteritis compared with C. jejuni/coli infection, but is associated with more...

  13. Type II autosomal dominant osteopetrosis (Albers-Schönberg disease): clinical and radiological manifestations in 42 patients.

    Science.gov (United States)

    Bénichou, O D; Laredo, J D; de Vernejoul, M C

    2000-01-01

    Type II autosomal dominant osteopetrosis (ADO II, Albers-Schonberg disease) is a genetic condition characterized by generalized osteosclerosis predominating in some skeletal sites such as the spine and pelvis. ADO II is rare, and most available clinical descriptions are based on small numbers of patients. We report the clinical and radiological manifestations in 42 ADO II patients. To our knowledge, this is the largest series reported so far. Our inclusion criterion was presence on radiographs of the spine of vertebral endplate thickening, producing the classic sandwich vertebra appearance. We found various patterns of sandwich vertebra, of which we provide a description to assist physicians in diagnosing ADO II. The classic bone-within-bone appearance was present in most but not all skeletal sites. The radiological penetrance of the disease was high (90%) and increased after 20 years of age. As many as 81% of our patients experienced clinical manifestations. Fractures were common (78% of patients) and healed slowly. Hip osteoarthritis developed in 27% of patients and required arthroplasty in 9 of the 16 affected hips. Nonmandibular osteomyelitis occurred in 4 cases (11%). Twenty-four percent of patients had thoracic or lumbar scoliosis. Orthopedic surgery was performed in 52.8% of patients, of whom half had at least three surgical procedures for internal fracture fixation, arthroplasty, limb deformity correction, or treatment of surgical complications. There was a high rate of surgical complications including nonunion, infection, prosthesis loosening, and intraoperative fractures. Nearly two-thirds of patients (64%) had stomatologic manifestations, including mandibular osteomyelitis in 4 patients (11%). Cranial nerve involvement responsible for hearing loss, bilateral optic atrophy, and/or facial palsy was present in 14 patients but was clearly attributable to ADO II in only 6 cases (16%). This large series sheds new light on several aspects of ADO II, most

  14. Clinical manifestations and management of Gaucher disease.

    Science.gov (United States)

    Linari, Silvia; Castaman, Giancarlo

    2015-01-01

    Gaucher disease is a rare multi-systemic metabolic disorder caused by the inherited deficiency of the lysosomal enzyme β-glucocerebrosidase, which leads to the accumulation of its normal substrate, glucocerebroside, in tissue macrophages with damage to haematological, visceral and bone systems. Anaemia, thrombocytopenia, enlargement of liver and/or spleen, skeletal abnormalities (osteopenia, lytic lesions, pathological fractures, chronic bone pain, bone crisis, bone infarcts, osteonecrosis and skeletal deformities) are typical manifestations of the most prevalent form of the disease, the so-called non-neuronopathic type 1. However, severity and coexistence of different symptoms are highly variable. The determination of deficient β-glucocerebrosidase activity in leukocytes or fibroblasts by enzymatic assay is the gold standard for the diagnosis of Gaucher disease. Comprehensive and reproducible evaluation and monitoring of all clinically relevant aspects are fundamental for the effective management of Gaucher disease patients. Enzyme replacement therapy has been shown to be effective in reducing glucocerebroside storage burden and diminishing the deleterious effects caused by its accumulation. Tailored treatment plan for each patient should be directed to symptom relief, general improvement of quality of life, and prevention of irreversible damage.

  15. Pulmonary manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Sameer Gulati

    2012-01-01

    Full Text Available Leptospirosis has a spectrum of presentation which ranges from mild disease to a severe form comprising of jaundice and renal failure. Involvement of the lung can vary from subtle clinical features to deadly pulmonary hemorrhage and acute respiratory distress syndrome. Of late, it has been identified that leptospirosis can present atypically with predominant pulmonary manifestations. This can delay diagnosis making and hence optimum treatment. The purpose of this review is to bring together all the reported pulmonary manifestations of leptospirosis and the recent trends in the management.

  16. Endogen endoftalmitis som første kliniske manifestation af aortaklapendokarditis

    DEFF Research Database (Denmark)

    Rudbæk, Torsten; Haastrup, Peter; Frydkjær-Olsen, Ulrik

    2012-01-01

    Infectious endocarditis is considered one of the most severe infections in the Western world. Complications include septic embolism, for example to the brain or the eye. Endogeneous endophthalmitis is a rare but severe eye disease. It is important to remember that clinical signs from the eye can...... be the first manifestation of systemic disease. We present a case report of an 81-year-old woman with endogenous endophthalmitis as the first clinical manifestation of infectious endocarditis....

  17. Clinical manifestations of gastrointestinal form of food allergy in children and approaches to its diagnosis

    Directory of Open Access Journals (Sweden)

    Yu.R. Chernysh

    2017-08-01

    Full Text Available Gastrointestinal food allergy is caused by the development of allergic inflammation in the mucosa of the gastrointestinal tract. The mechanisms of this inflammation are immunogflobulin E (IgE-mediated (oral allergic syndrome, immediate gastrointestinal hypersensitivity, non-IgE-mediated (protein-induced enterocolitis syndrome, protein-induced enteropathy, protein-induced allergic proctocolitis and mixed IgE- and non-IgE-mediated reactions (eosinophilic esophagitis, eosinophilic gastritis and eosinophilic gastroenteritis. Gastrointestinal manifestations of food allergy are also combined with symptoms of atopic diseases, more often with atopic dermatitis, urticaria and angioedema. Clinical manifestations of allergic lesions of the gastrointestinal tract are different and non-specific. Common signs of gastrointestinal allergy include: vomiting (occurs from a few minutes to 4–6 hours after eating; сolic (immediately or several hours after eating; constipation; diarrhea; refusal of food (from a specific product or complete refusal to eat; abdominal pain; flatulence, the presence of mucus and eosinophils in the stool; poor appetite; headache. Differential diagnosis of gastrointestinal food allergy should be carried out with diseases such as disease and abnormalities in the development of the digestive system, mental and metabolic disorders, intoxications, infectious diseases, pancreatic endocrine gland failure, celiac disease, cystic fibrosis, immunodeficiencies, disaccharidic insufficiency, side effects of medications, endocrine pathology, irritable bowel syndrome. Methods for diagnosing gastrointestinal allergy, which currently exist, are limited and imperfect. This requires further scientific researches aimed at timely detection of this pathology, prevention in genetically predisposed children, development of optimal diagnostic algorithms, prevention of the progression of clinical manifestations, the choice of individual diet therapy and

  18. Fabry Disease in Families With Hypertrophic Cardiomyopathy: Clinical Manifestations in the Classic and Later-Onset Phenotypes.

    Science.gov (United States)

    Adalsteinsdottir, Berglind; Palsson, Runolfur; Desnick, Robert J; Gardarsdottir, Marianna; Teekakirikul, Polakit; Maron, Martin; Appelbaum, Evan; Neisius, Ulf; Maron, Barry J; Burke, Michael A; Chen, Brenden; Pagant, Silvere; Madsen, Christoffer V; Danielsen, Ragnar; Arngrimsson, Reynir; Feldt-Rasmussen, Ulla; Seidman, Jonathan G; Seidman, Christine E; Gunnarsson, Gunnar Th

    2017-08-01

    The screening of Icelandic patients clinically diagnosed with hypertrophic cardiomyopathy resulted in identification of 8 individuals from 2 families with X-linked Fabry disease (FD) caused by GLA (α-galactosidase A gene) mutations encoding p.D322E (family A) or p.I232T (family B). Familial screening of at-risk relatives identified mutations in 16 family A members (8 men and 8 heterozygotes) and 25 family B members (10 men and 15 heterozygotes). Clinical assessments, α-galactosidase A (α-GalA) activities, glycosphingolipid substrate levels, and in vitro mutation expression were used to categorize p.D322E as a classic FD mutation and p.I232T as a later-onset FD mutation. In vitro expression revealed that p.D322E and p.I232T had α-GalA activities of 1.4% and 14.9% of the mean wild-type activity, respectively. Family A men had markedly decreased α-GalA activity and childhood-onset classic manifestations, except for angiokeratoma and cornea verticillata. Family B men had residual α-GalA activity and developed FD manifestations in adulthood. Despite these differences, all family A and family B men >30 years of age had left ventricular hypertrophy, which was mainly asymmetrical, and had similar late gadolinium enhancement patterns. Ischemic stroke and severe white matter lesions were more frequent among family A men, but neither family A nor family B men had overt renal disease. Family A and family B heterozygotes had less severe or no clinical manifestations. Men with classic or later-onset FD caused by GLA missense mutations developed prominent and similar cardiovascular disease at similar ages, despite markedly different α-GalA activities. © 2017 American Heart Association, Inc.

  19. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Directory of Open Access Journals (Sweden)

    Esteban Uribe-Bojanini

    2017-01-01

    Full Text Available Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP, De Sanctis–Cacchione syndrome (DSC, Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia, short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T. This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders.

  20. Xeroderma Pigmentosum with Severe Neurological Manifestations/De Sanctis–Cacchione Syndrome and a Novel XPC Mutation

    Science.gov (United States)

    Hernandez-Quiceno, Sara

    2017-01-01

    Several genetic disorders caused by defective nucleotide excision repair that affect the skin and the nervous system have been described, including Xeroderma Pigmentosum (XP), De Sanctis–Cacchione syndrome (DSC), Cockayne syndrome, and Trichothiodystrophy. Cutaneous photosensitivity with an increased risk of skin malignancy is a common feature of these disorders, but clinical manifestations commonly overlap these syndromes. Several genes have been found to be altered in these pathologies, but we lack more genotype-phenotype correlations in order to make an accurate diagnosis. Very few cases of DSC syndrome have been reported in the literature. We present a case of a 12-year-old Colombian male, with multiple skin lesions in sun-exposed areas from the age of 3 months and a history of 15 skin cancers. He also displayed severe neurologic abnormalities (intellectual disability, ataxia, altered speech, and hyperreflexia), short stature, and microcephaly, which are features associated with DSC. Genetic testing revealed a novel germline mutation in the XP-C gene (c.547A>T). This is the first case of an XP-C mutation causing De Sanctis–Cacchione syndrome. Multigene panel testing is becoming more widely available and accessible in the clinical setting and will help rapidly unveil the molecular etiology of these rare genetic disorders. PMID:28255305

  1. Cutaneous Manifestations of Non-Celiac Gluten Sensitivity: Clinical Histological and Immunopathological Features

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    Veronica Bonciolini

    2015-09-01

    Full Text Available Background: The dermatological manifestations associated with intestinal diseases are becoming more frequent, especially now when new clinical entities, such as Non-Celiac Gluten Sensitivity (NCGS, are identified. The existence of this new entity is still debated. However, many patients with diagnosed NCGS that present intestinal manifestations have skin lesions that need appropriate characterization. Methods: We involved 17 patients affected by NCGS with non-specific cutaneous manifestations who got much better after a gluten free diet. For a histopathological and immunopathological evaluation, two skin samples from each patient and their clinical data were collected. Results: The median age of the 17 enrolled patients affected by NCGS was 36 years and 76% of them were females. On the extensor surfaces of upper and lower limbs in particular, they all presented very itchy dermatological manifestations morphologically similar to eczema, psoriasis or dermatitis herpetiformis. This similarity was also confirmed histologically, but the immunopathological analysis showed the prevalence of deposits of C3 along the dermo-epidermal junction with a microgranular/granular pattern (82%. Conclusions: The exact characterization of new clinical entities such as Cutaneous Gluten Sensitivity and NCGS is an important objective both for diagnostic and therapeutic purposes, since these are patients who actually benefit from a GFD (Gluten Free Diet and who do not adopt it only for fashion.

  2. Upper gastrointestinal bleeding caused by severe esophagitis: a unique clinical syndrome.

    Science.gov (United States)

    Guntipalli, Prathima; Chason, Rebecca; Elliott, Alan; Rockey, Don C

    2014-12-01

    We have recognized a unique clinical syndrome in patients with upper gastrointestinal bleeding who are found to have severe esophagitis. We aimed to more clearly describe the clinical entity of upper gastrointestinal bleeding in patients with severe esophagitis. We conducted a retrospective matched case-control study designed to investigate clinical features in patients with carefully defined upper gastrointestinal bleeding and severe esophagitis. Patient data were captured prospectively via a Gastrointestinal Bleeding Healthcare Registry, which collects data on all patients admitted with gastrointestinal bleeding. Patients with endoscopically documented esophagitis (cases) were matched with randomly selected controls that had upper gastrointestinal bleeding caused by other lesions. Epidemiologic features in patients with esophagitis were similar to those with other causes of upper gastrointestinal bleeding. However, hematemesis was more common in patients with esophagitis 86% (102/119) than in controls 55% (196/357) (p bleeding than those without cirrhosis. We have described a unique clinical syndrome in patients with upper gastrointestinal bleeding who have erosive esophagitis. This syndrome is manifest by typical clinical features and is associated with favorable outcomes.

  3. Clinical and immunological relevance of anti-neuronal antibodies in celiac disease with neurological manifestations

    Science.gov (United States)

    Caio, Giacomo; Giorgio, Roberto De; Venturi, Alessandro; Giancola, Fiorella; Latorre, Rocco; Boschetti, Elisa; Serra, Mauro; Ruggeri, Eugenio; Volta, Umberto

    2015-01-01

    Aim: To assess anti-neuronal antibodies (NA) prevalence and their correlation with neurological disorders and bowel habits in celiac disease (CD) patients. Background: Neurological manifestations are estimated to occur in about 10% of celiac disease patients and NA to central nervous system (CNS) and enteric nervous system (ENS) are found in a significant proportion of them. Little is known about the clinical and immunological features in CD patients with neurological manifestations. Patients and methods: NA to CNS and ENS were investigated in 106 CD patients and in 60 controls with autoimmune disorders by indirect immunofluorescence on rat / primate cerebellar cortex and intestinal (small and large bowel) sections. Results: IgG NA to CNS (titer 1:50 - 1:400) were positive in 23 celiacs (21%), being more frequently detected in those with neurological disorders that in those without neurological dysfunction (49% vs. 8%, P 1:200 had severe constipation. Only one patient with cerebellar ataxia and intestinal sub-occlusion was positive for NA to CNS and ENS. NA to CNS and ENS were found in 7% and 5% of controls, respectively. Conclusion: In CD the positivity of NA to CNS can be regarded as a marker of neurological manifestations. High titer NA to ENS are associated with severe constipation. The demonstration of NA to CNS and ENS suggests an immune-mediated pathogenesis leading to central neural impairment as well as gut dysfunction (hence constipation), respectively. PMID:25926940

  4. Clinical Factors and Viral Load Influencing Severity of Acute Hepatitis A.

    Science.gov (United States)

    Lee, Hyun Woong; Chang, Dong-Yeop; Moon, Hong Ju; Chang, Hye Young; Shin, Eui-Cheol; Lee, June Sung; Kim, Kyung-Ah; Kim, Hyung Joon

    2015-01-01

    Clinical manifestations of hepatitis A virus (HAV) infection vary from mild to fulminant hepatic failure (FHF) in adults. We investigated the relationship between laboratory findings, including viral load, and clinical outcomes in patients with acute hepatitis A (AHA) and evaluated predictive factors for severe acute hepatitis (s-AH). We analyzed the clinical manifestations of AHA in 770 patients. Patients with a prothrombin time (PT) of less than 40% of normal were classified as s-AH and included 4 patients with FHF, 11 patients with acute renal failure, and 3 patients with prolonged jaundice (n = 128). Other patients were defined as mild acute hepatitis (m-AH) (n = 642). Serum samples were obtained from 48 patients with acute hepatitis A. Among them, 20 with s-AH, and 28 with m-AH, were tested for HAV RNA titer. In a multivariate analysis, age (HR = 1.042, P = 0.041), peak creatinine (HR = 4.014, P = 0.001), bilirubin (HR = 1.153, P = 0.003), alanine aminotransferase (ALT) (HR = 1.001, P hepatitis A.

  5. Clinical Factors and Viral Load Influencing Severity of Acute Hepatitis A

    Science.gov (United States)

    Lee, Hyun Woong; Chang, Dong-Yeop; Moon, Hong Ju; Chang, Hye Young; Shin, Eui-Cheol; Lee, June Sung; Kim, Kyung-Ah; Kim, Hyung Joon

    2015-01-01

    Background and Aims Clinical manifestations of hepatitis A virus (HAV) infection vary from mild to fulminant hepatic failure (FHF) in adults. We investigated the relationship between laboratory findings, including viral load, and clinical outcomes in patients with acute hepatitis A (AHA) and evaluated predictive factors for severe acute hepatitis (s-AH). Methods We analyzed the clinical manifestations of AHA in 770 patients. Patients with a prothrombin time (PT) of less than 40% of normal were classified as s-AH and included 4 patients with FHF, 11 patients with acute renal failure, and 3 patients with prolonged jaundice (n = 128). Other patients were defined as mild acute hepatitis (m-AH) (n = 642). Serum samples were obtained from 48 patients with acute hepatitis A. Among them, 20 with s-AH, and 28 with m-AH, were tested for HAV RNA titer. Results In a multivariate analysis, age (HR = 1.042, P = 0.041), peak creatinine (HR = 4.014, P = 0.001), bilirubin (HR = 1.153, P = 0.003), alanine aminotransferase (ALT) (HR = 1.001, Phepatitis A. PMID:26090677

  6. Organising pneumonia - the first manifestation of rheumatoid arthritis.

    Science.gov (United States)

    Kalinova, Desislava; Kolarov, Zlatimir; Rashkov, Rasho

    2017-01-01

    Organising pneumonia (OP) is a distinct type of interstitial lung disease, because it can also be seen in association with several conditions such as infections, drugs, and connective tissue diseases. An association of OP with rheumatoid arthritis (RA) has also been described. Joint manifestations of RA usually precede lung involvements by several years; however, in less than 10% of cases of RA, interstitial lung disease may be the initial feature of RA. Organising pneumonia as the initial manifestation or developed simultaneously of RA is extremely rare, and its clinical features remain unknown. We present a 56-year-old woman with OP as the first manifestation of RA.

  7. Alcohol consumption and risk of recurrent cardiovascular events and mortality in patients with clinically manifest vascular disease and diabetes mellitus: The Second Manifestations of ARTerial (SMART) disease study

    NARCIS (Netherlands)

    Beulens, J.W.J.; Algra, A.; Soedamah-Muthu, S.S.; Visseren, F.L.J.; Grobbee, D.E.; Graaf, van der Y.

    2010-01-01

    OBJECTIVE: This study investigated the relation between alcohol consumption and specific vascular events and mortality in a high risk population of patients with clinical manifestations of vascular disease and diabetes. METHODS: Patients with clinically manifest vascular disease or diabetes (n=5447)

  8. Evaluation of Clinical Manifestations in Patients with Severe Lymphedema with and without CCBE1 Mutations

    NARCIS (Netherlands)

    Alders, M.; Mendola, A.; Adès, L.; Al Gazali, L.; Bellini, C.; Dallapiccola, B.; Edery, P.; Frank, U.; Hornshuh, F.; Huisman, S. A.; Jagadeesh, S.; Kayserili, H.; Keng, W. T.; Lev, D.; Prada, C. E.; Sampson, J. R.; Schmidtke, J.; Shashi, V.; van Bever, Y.; van der Aa, N.; Verhagen, J. M.; Verheij, J. B.; Vikkula, M.; Hennekam, R. C.

    2013-01-01

    The lymphedema-lymphangiectasia-intellectual disability (Hennekam) syndrome (HS) is characterised by a widespread congenital lymph vessel dysplasia manifesting as congenital lymphedema of the limbs and intestinal lymphangiectasia, accompanied by unusual facial morphology, variable intellectual

  9. Ocular manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    Rathinam S

    2005-01-01

    Full Text Available Leptospiral uveitis is a common entity in tropical countries. Ocular manifestations are noted in the second phase of illness, but these remain under-diagnosed mainly because of the prolonged symptom-free period that separates the systemic manifestations from detection of ocular manifestations.Varying ophthalmic presentations and the intrinsic nature of different types of uveitis to mimic one another also challenge the accuracy of the diagnosis. Of the individual ocular signs, the combination of acute, non-granulomatous, panuveitis, hypopyon, vasculitis, optic disc edema, membranous vitreous opacities and absence of choroiditis or retinitis have high predictive value for the clinical diagnosis of leptospiral uveitis. Geographic location of the patient, occupation, socio-economic status, risk factors related to exposure, past history of fever or jaundice also aid in diagnosis.Steroids are the mainstay of treatment for leptospiral uveitis. Depending upon the severity and anatomical location of inflammatory lesion, topical, peri-ocular and/or systemic steroids are given. The prognosis is generally good, even when the inflammation is severe.

  10. The relationship between increased levels of Anti-dsDNA with clinical manifestation in patients with SLE in Haji Adam Malik General Hospital Medan

    Science.gov (United States)

    Marpaung, B.; Patrick, J.

    2018-03-01

    Systemic Lupus Erythematosus (SLE) is an autoimmune rheumatic disease characterized by widespread inflammation and affects any organism the body. Many autoimmune diseases result in autoantibody production, but Anti-dsDNA antibodies are highly specific to SLE. Previous study found that Anti-dsDNA antibodies are associated with severe clinical manifestations of lupus. The aim of this study was to examine the relationship between anti-dsDNA level with clinical features and laboratory findings in SLE patients. This cross-sectional study was conducted in Hospital Haji Adam Malik Medan in May-October 2016.We examine anti-dsDNA, clinical features and kidney laboratory profile in all patient. Data were statistically analyzed.81 SLE patients with median level of anti-dsDNA 294 (6.1-1317). There was no significant relationship between increased level of Anti-dsDNA with clinical manifestations (p>0.05). There were significant relationships between increased level of Anti-dsDNA with renal impairment (p=0.049), urea level (p=0.016), urine protein (p=0.042) and hematology disorder (p=0.005). Arthritis is the most frequent clinical manifestation (96.3%) followed by malar rash (77.8%). Elevated anti-dsDNA level was not related with clinical manifestations but there was significant relationship with hematology disorder, urea, creatinine, and proteinuria in SLE patents.

  11. Severe manifestation of psoriasis in a HIV infected patient: a case report

    Directory of Open Access Journals (Sweden)

    Alper Gunduz

    2015-12-01

    Full Text Available The human immunodeficiency virus (HIV epidemic in Turkey reveals a slow progression and at the end of November 2015, the total official number was reported to be 11,109 cases. Approximately 90% of HIV patients develop some type of skin disease. Especially patients with psoriasis and HIV infection often present with more severe and treatment-refractory cutaneous disease. Herein, we describe a case of a patient with previously known psoriasis worsened by HIV infection. A 37-year-old housewife was admitted to our clinic with previously known psoriasis worsened during the last two years with conversion to erythrodermic psoriasis which was not controlled even by PUVA, methotrexate and systemic cyclosporine. The patient had positive HIV antibody test. HIV RNA viral load was 120.000 copy/ml and CD4 count 88/ mm3 . She also had oral candidiasis and Pneumocystis jirovecii pneumonia. The patient received antiretroviral treatment including tenofovir/emtricitabine and lopinavir/ritonavir. Symptoms resolved gradually within one month with almost complete impovement of her erythrodermic psoriasis. . Four years later the patient was still on tenofovir/emtricitabine and lopinavir/ritonavir without concomitant spesific psoriasis treatment. Psoriasis manifestations can be severe in AIDS patients. Clinicians face diagnostic and therapeutic difficulties when psoriasis coexists with HIV infection. The HIV test should be considered in patients affected by severe erythrodermic psoriasis and resistant to conventional and biological treatments. [Dis Mol Med 2015; 3(4.000: 43-45

  12. OCULAR MANIFESTATIONS OF HEAD INJURIES

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    Kanukollu Venkata Madusudana Rao

    2016-12-01

    Full Text Available BACKGROUND This prospective study aimed to evaluate the incidence of ocular manifestations in head injury and their correlation with the intracranial lesions. MATERIALS AND METHODS A total of 108 consecutive cases of closed head injury admitted in the neurosurgical ward of a tertiary teaching hospital underwent a thorough ophthalmic assessment. Clinical examination, radiological imaging and Glasgow Coma Scale (GCS were applied to grade the severity of injury. RESULTS Total number of 108 patients of head injury were examined of which 38 patients had ocular manifestations (35.18%. Of these, 85.18% were males, 84% of injuries were due to road traffic accidents and 16% were due to fall from a height. The ocular manifestations were as follows- Orbital complications were seen in 6 patients (15.8%. Anterior segment manifestations included black eyes seen in 10 patients (26.3%, subconjunctival haemorrhage in 10.5% of patients (4 patients, corneal involvement in 21% of patients (8 patients and pupillary involvement in 50% of patients (19 patients. Posterior segment manifestations were seen in 26.3% of patients (10 patients and were as follows- Purtscher’s retinopathy in 2 patients and optic atrophy in 5 patients. Cranial nerve palsies were seen in 15 patients (39.47% and supranuclear movement disorders were seen in 3 patients (8%. CONCLUSION Even though, neurosurgeons perform comprehensive clinical examination including eye examination, the main purpose is limited to aid topical diagnosis of neurological lesions. This study emphasises the importance of a detailed eye examination by an ophthalmologist to prevent irreversible visual loss in addition to aiding in the neurological diagnosis. Pupillary involvement, papilloedema and ocular motor paresis pointed to a more severe head injury. This observational prospective study helped us to correlate the severity of head injuries in association with ocular findings in patients admitted in neurosurgical ward

  13. The Role of Oxidative Stress in the Clinical Manifestations of Childhood Asthma.

    Science.gov (United States)

    Topic, Aleksandra; Francuski, Djordje; Nikolic, Aleksandra; Milosevic, Katarina; Jovicic, Snezana; Markovic, Bojan; Djukic, Mirjana; Radojkovic, Dragica

    2017-08-01

    The significance of oxidative stress in pathogenesis of childhood asthma was recognized, but its role in the clinical manifestations of disease is still unclear. The study was conducted in 96 asthmatic children. The urinary biomarker of oxidative stress, 8-oxo-7,8-dihydro-2-deoxyguanosine (8-oxodG/creatinine) was determined by using HPLC-MS/MS. ELISA was performed to measure myeloperoxidase (MPO) and Cu,Zn- superoxide dismutase (Cu,Zn-SOD) in serum. Logistic regression analysis revealed that female gender, tobacco smoke exposure, and increased 8-oxodG/creatinine were associated with risk for intermittent asthma, while the positive allergy test and increased Cu,Zn-SOD were associated with eczema in asthmatic children. Higher MPO (p = 0.033), and percent of granulocytes (p = 0.030) were found in severe persistent asthma in comparison to intermittent or mild persistent asthma. The main findings that TSE-induced oxidative stress is a risk for intermittent asthma and eczema may be clinically significant for the disease prevention and therapeutic improvements.

  14. Severe visceral leishmaniasis in children: the relationship between cytokine patterns and clinical features

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    Monica Elinor Alves Gama

    2013-12-01

    Full Text Available Introduction The relationship between severe clinical manifestations of visceral leishmaniasis (VL and immune response profiles has not yet been clarified, despite numerous studies on the subject. This study aimed to investigate the relationship between cytokine profiles and the presence of immunological markers associated with clinical manifestations and, particularly, signs of severity, as defined in a protocol drafted by the Ministry of Health (Brazil. Methods We conducted a prospective, descriptive study between May 2008 and December 2009. This study was based on an assessment of all pediatric patients with VL who were observed in a reference hospital in Maranhão. Results Among 27 children, 55.5% presented with more than one sign of severity or warning sign. Patients without signs of severity or warning signs and patients with only one warning sign had the highest interferon-gamma (IFN-γ levels, although their interleukin 10 (IL-10 levels were also elevated. In contrast, patients with the features of severe disease had the lowest IFN-γ levels. Three patients who presented with more than two signs of severe disease died; these patients had undetectable interleukin 2 (IL-2 and IFN-γ levels and low IL-10 levels, which varied between 0 and 36.8pg/mL. Conclusions Our results showed that disease severity was associated with low IFN-γ levels and elevated IL-10 levels. However, further studies with larger samples are needed to better characterize the relationship between disease severity and cytokine levels, with the aim of identifying immunological markers of active-disease severity.

  15. The epigenomics of polycystic ovarian syndrome: from pathogenesis to clinical manifestations

    DEFF Research Database (Denmark)

    Li, Shuxia; Zhu, Dongyi; Duan, Hongmei

    2016-01-01

    Polycystic ovarian syndrome (PCOS) is a complex condition of ovarian dysfunction and metabolic abnormalities with widely varying clinical manifestations resulting from interference of the genome and the environment through integrative biological mechanisms with the emerging field of epigenetics...

  16. Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

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    Goldner Branislav

    2005-01-01

    Full Text Available The objective of this study was to present some clinical and radiological manifestations of PNS in relation to bronchogenic carcinoma (BC and to evaluate the usefulness of imaging findings in the diagnosis of asymptomatic BC. In the study group of 204 patients (146 male and 58 female with proven bronchogenic carcinoma, PNS was present in 18 (8.62% patients. The patients with PNS were divided into two groups. The first one consisted of 13 (72.2% patients with symptoms related to primary tumours while the second one consisted of 5 (27.7% patients with symptoms, at initial appearance, indicative of disorders of other organs and systems. The predominant disorder was Lambert-Eaton Syndrome, associated with small-cell carcinoma. Endocrine manifestations included: inappropriate antidiuretic hormone production syndrome (small-cell carcinoma, a gonadotropin effect with gynaecomastia and testicular atrophy (planocellular carcinoma, small-cell carcinoma, a case of Cushing Syndrome (small-cell carcinoma, and hyper-calcaemia, due to the production of the parathyroid hormone-related peptide, which was associated with planocellular carcinoma. A rare case of bilateral exophthalmos was found as PNS at adenocarcinoma. Digital clubbing and hypertrophic osteoarthropathy (HO were associated with planocellular and adenocarcinoma, while clubbing was much more common than HO, especially among women. The differences between the two groups were related to the time of PNS appearance. In the first group, PNS occurred late on in the illness, while in the second group, PNS preceded the diagnosis of BC. Alternatively, the disappearance of a clinical or a radiological manifestation of PNS after surgery or chemotherapy may be an indicator of an improvement in health or PNS may be the first sign of illness recurrence. Radiological manifestations of PNS in asymptomatic patients may serve as a useful screen for identifying primary BC. In symptomatic patients, it may be an

  17. Langerhans Cells Histiocytosis: Features of Clinical and Laboratory Manifestations and Course of the Disease

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    O.I. Dorosh

    2014-08-01

    Results of the Study. An analysis of 25 cases of LCH in children was presented. Monosystem LCH most often affects the skeletal system. Multisystem LCH is characterized by diversity of clinical manifestations, more severe course and high risk of death. One third of patients with multisystem LCH are infants. In children with monosystem LCH we observed complete clinical response to first-line therapy. At the same time, complete response to polychemotherapy is observed only in 30 % of children with multisystem LCH. Prognosis of the disease depends on the initial affection of risk organs (bone marrow, liver, lungs, spleen, their dysfunction and the child’s age at the time of diagnosis. Process reactivation in children with multisystem LCH occurs in the first 12 months from the onset of the disease.

  18. Clinical manifestations of primary syphilis in homosexual men

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    Milan Bjekić

    Full Text Available At the beginning of a new millennium, syphilis incidence has been increasing worldwide, occurring primarily among men who have sex with men (MSM. The clinical features of primary syphilis among MSM is described, a case-note review of the primary syphilis (PS patients who attended the Institute of Skin and Venereal Diseases. The diagnosis was assessed based upon the clinical features and positive syphilis serology tests. Among 25 patients with early syphilis referred during 2010, PS was diagnosed in a total of 13 cases. In all patients, unprotected oral sex was the only possible route of transmission, and two out of 13 patients had HIV co-infection. Overall, 77% of men presented with atypical penile manifestation. The VDRL test was positive with low titers. The numerous atypical clinical presentations of PS emphasize the importance of continuing education of non-experienced physicians, especially in countries with lower reported incidence of syphilis.

  19. Thoracic manifestations of ovarian hyperstimulation syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Levin, M.F.; Hutton, L.C.; Kaplan, B.R. [University of Western Ontario, London, ON (Canada)

    1995-02-01

    In order to determine the thoracic manifestations of severe ovarian hyperstimulation syndrome, the medical records and available images of 771 patients who had received gonadotropins to induce superovulation, were reviewed. In 22 patients (3%) severe hyperstimulation syndrome was diagnosed clinically and confirmed with ultrasonography (US). Pleural effusion occurred in five of these (23%), one of whom required thoracentesis. Atelectasis and internal jugular vein thrombosis developed in one patient, and ventilation-perfusion mismatch occurred in another. The study concluded that respiratory distress in patients with ovarian hyperstimulation syndrome was most likely due to lung restriction. Pulmonary manifestations formed an important part of this syndrome, and radiologic input were considered necessary for assessment, monitoring and management. 10 refs., 2 figs., 1 tab.

  20. Nephrogenic systemic fibrosis: late skin manifestations

    DEFF Research Database (Denmark)

    Bangsgaard, Nannie; Marckmann, Peter; Rossen, Kristian

    2009-01-01

    BACKGROUND: Nephrogenic systemic fibrosis (NSF) is a serious disease that occurs in patients with severe renal disease and is believed to be caused by gadolinium-containing contrast agents. A detailed description of the late skin manifestations of NSF is important to help dermatologists...... and nephrologists recognize the disease. OBSERVATIONS: We studied 17 patients with NSF late in the disease. All patients showed epidermal atrophy and hairlessness of the affected regions, primarily the lower legs. Affected areas were symmetrically distributed and hyperpigmented in most cases. Eleven patients showed......: This descriptive case series of patients with NSF gives a detailed clinical picture of the skin manifestations late in the disease. It demonstrates that the clinical picture in the late stage has a varied presentation and that NSF has a significant effect on the quality of life....

  1. Clinical manifestations of testicular adrenal rest tumor in males with congenital adrenal hyperplasia

    Directory of Open Access Journals (Sweden)

    Min Kyung Yu

    2015-09-01

    Full Text Available PurposeIn male patients with congenital adrenal hyperplasia (CAH, the presence of testicular adrenal rest tumors (TARTs have been reported, however their prevalence and clinical manifestations are not well known. Untreated TARTs may lead to testicular structural damage and infertility. This study was conducted to investigate the prevalence of TARTs in male patients with CAH, and characterize the manifestations to identify contributing factors to TART.MethodsAmong 102 CAH patients aged 0-30 years, 24 male patients have been regularly followed up in our outpatient clinic at Severance Children's Hospital from January 2000 to December 2014. In order to reveiw the characteristics of TART patients, we calculated the mean levels of hormones during the 5 years before the time of investigation. Five patients underwent follow-up scrotal ultrasonography (US after adjusting the dosage of glucocorticoids.ResultsTARTs were detected in 8 of the 13 patients (61.5%. The median age of TARTs diagnosis was 20.2 years with the youngest case being 15.5 years old. The mean serum level of adrenocorticotropic hormone (ACTH was higher in the TARTs patient group compared to the non-TARTs group (P<0.05. The tumor size decreased in 3 cases, slightly increased in 1 case, and had no change in another case.ConclusionThe serum ACTH level might be associated with the growth promoting factor for TARTs, but the exact mechanism has not been clearly identified. Screening for TARTs using US is important in male patients with CAH for early-detection and prevention of ongoing complications, such as infertility.

  2. A STUDY OF THE CLINICAL MANIFESTATIONS, BIOCHEMICAL FINDINGS, PRECIPITATING FACTORS AND COMPLICATIONS IN 56 EPISODES OF DIABETIC KETOACIDOSIS

    OpenAIRE

    M. Rafii

    1998-01-01

    Fifty six episodes of DKA occurred in 33 patients during the period between 1998 -96. These patients were admitted and treated in Bahrami children hospital, a Tehran University teaching medical center. The most frequent clinical manifestations consisted of polyuria and polydipsia (66%), nausea and vomiting (64%), reduction in consciousness (53%), and Kussmaul respiration (53.5%). 54.6% of DKA episodes showed a pH below 7.1. There was a relationship between the severity of acidosis and the tim...

  3. Clinical Manifestations Associated with Overweight/Obesity in Puerto Ricans with Fibromyalgia Syndrome

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    Ruth M. Fred-Jiménez

    2016-01-01

    Full Text Available Objective. To determine the clinical manifestations associated with overweight/obesity in Hispanics from Puerto Rico with fibromyalgia syndrome (FMS. Methods. A cross-sectional study was performed in 144 patients with FMS (per American College of Rheumatology (ACR classification criteria. Sociodemographic features, FMS-related symptoms, tender points (per ACR criteria, comorbidities, and FMS treatment were examined. BMI was calculated and patients were grouped into two categories: BMI ≤ 24.9 kg/m2 (nonoverweight/obese and BMI ≥ 25 kg/m2 (overweight/obese. Bivariate and multivariate analyses were used to evaluate differences between the study groups. Results. The mean (standard deviation (SD age of patients was 50.2 (9.9 years; 95.1% were females and 75.7% were overweight/obese. In the bivariate analysis, overweight/obese patients were more likely to have self-reported memory impairment, anxiety, shortness of breath, and urinary frequency than nonoverweight/obese patients. In addition, the tender point count was higher in the overweight/obese group. In the logistic regression analyses, self-reported memory impairment and urinary frequency differences remained significant after adjusting for confounding variables. Conclusion. In this population of Puerto Ricans with FMS, overweight/obese patients experienced more FMS-related manifestations than nonoverweight/obese individuals. However, prospective studies are needed to confirm these associations and to elucidate if weight reduction interventions could favorably impact the severity of FMS.

  4. Clinical Manifestations Associated with Overweight/Obesity in Puerto Ricans with Fibromyalgia Syndrome.

    Science.gov (United States)

    Fred-Jiménez, Ruth M; Arroyo-Ávila, Mariangelí; Mayor, Ángel M; Ríos, Grissel; Vilá, Luis M

    2016-01-01

    Objective. To determine the clinical manifestations associated with overweight/obesity in Hispanics from Puerto Rico with fibromyalgia syndrome (FMS). Methods. A cross-sectional study was performed in 144 patients with FMS (per American College of Rheumatology (ACR) classification criteria). Sociodemographic features, FMS-related symptoms, tender points (per ACR criteria), comorbidities, and FMS treatment were examined. BMI was calculated and patients were grouped into two categories: BMI ≤ 24.9 kg/m(2) (nonoverweight/obese) and BMI ≥ 25 kg/m(2) (overweight/obese). Bivariate and multivariate analyses were used to evaluate differences between the study groups. Results. The mean (standard deviation (SD)) age of patients was 50.2 (9.9) years; 95.1% were females and 75.7% were overweight/obese. In the bivariate analysis, overweight/obese patients were more likely to have self-reported memory impairment, anxiety, shortness of breath, and urinary frequency than nonoverweight/obese patients. In addition, the tender point count was higher in the overweight/obese group. In the logistic regression analyses, self-reported memory impairment and urinary frequency differences remained significant after adjusting for confounding variables. Conclusion. In this population of Puerto Ricans with FMS, overweight/obese patients experienced more FMS-related manifestations than nonoverweight/obese individuals. However, prospective studies are needed to confirm these associations and to elucidate if weight reduction interventions could favorably impact the severity of FMS.

  5. Depressive Disorder, Anxiety Disorder and Chronic Pain: Multiple Manifestations of a Common Clinical and Pathophysiological Core.

    Science.gov (United States)

    Arango-Dávila, Cesar A; Rincón-Hoyos, Hernán G

    A high proportion of depressive disorders are accompanied by anxious manifestations, just as depression and anxiety often present with many painful manifestations, or conversely, painful manifestations cause or worsen depressive and anxious expressions. There is increasingly more evidence of the pathophysiological, and neurophysiological and technical imaging similarity of pain and depression. Narrative review of the pathophysiological and clinical aspects of depression and chronic pain comorbidity. Research articles are included that emphasise the most relevant elements related to understanding the pathophysiology of both manifestations. The pathological origin, physiology and clinical approach to these disorders have been more clearly established with the latest advances in biochemical and cellular techniques, as well as the advent of imaging technologies. This information is systematised with comprehensive images and clinical pictures. The recognition that the polymorphism of inflammation-related genes generates susceptibility to depressive manifestations and may modify the response to antidepressant treatments establishes that the inflammatory response is not only an aetiopathogenic component of pain, but also of stress and depression. Likewise, the similarity in approach with images corroborates not only the structural, but the functional and pathophysiological analogy between depression and chronic pain. Knowledge of depression-anxiety-chronic pain comorbidity is essential in the search for effective therapeutic interventions. Copyright © 2016 Asociación Colombiana de Psiquiatría. Publicado por Elsevier España. All rights reserved.

  6. CT manifestation of hepatic toxoplasmosis

    International Nuclear Information System (INIS)

    Mao Qing; Yang Yaying; Bao Yanming; He Bo; Wang Kechao; Song Guangyi; Lu Lin; Wang Xiaoli

    2005-01-01

    Objective: To study the CT manifestation of hepatic toxoplasmosis, and to provide image basis for its clinical diagnosis. Methods: Three patients with hepatic toxoplasmosis were examined by abdomen MSCT (pre- and post-contrast), and were confirmed by laboratory exams. The images were analyzed with information of clinical manifestation. Results: The positive appearances included the enlargement of liver, patches of multiple scattered low densities. Post-contrast lesions appearances: (1) No significant enhancement. (2) No significant occupying effection, and normal vessels inserting lesion occasionally. Conclusion: CT manifestation of hepar toxoplasmosis are some characteristic. But the diagnosis was made by a combination both clinical manifestation and laboratory exams. (authors)

  7. Gender differences in clinical manifestations before AIDS diagnosis among injecting drug users

    NARCIS (Netherlands)

    Spijkerman, I. J.; Langendam, M. W.; van Ameijden, E. J.; Coutinho, R. A.; van den Hoek, A.

    1998-01-01

    We compared incidence rates of self-reported HIV-related symptoms and illnesses, verified clinical manifestations and findings on physical examination between female and male injecting drug users (IDU) stratified by HIV serostatus in the Amsterdam cohort study on the natural history of HIV

  8. [Clinical, endoscopic and morphological manifestations of oesophageal lesion in systemic scleroderma].

    Science.gov (United States)

    Karateev, A E; Movsiian, A E; Anan'eva, M M; Radenska-Lopovok, S G

    2014-01-01

    Oesophageal lesion is the commonest visceral manifestation of systemic scleroderma (SSD) affecting the quality of life and fraught with serious complications. The aim of this study was to evaluate clinical, endoscopic andmorphological manifestations of oesophageal lesion in systemic scleroderma and its relationships with other clinical symptoms and pharmacotherapy of the disease. 479 patients with SSD (93.7% women, 6.3% men, mean age 48.7 +/- 19.2 yr). All of them underwent EGDS in 2005-2010. 123 patients were examined for the detection of Barrett's oesophagus (BO), total screening regardless of complaints was conducted in 2010. Control group included 1018 age and sex-matched patients with RA who underwent EGDS in 2008-2009. Oesophageal lesions occurred much more frequently in SSD than in RA. Oesophageal symptoms were documented in 70.0 and 29.9% cases, non-erosive oesopahgitis in 28.8 and 1.5%, erosive esophagitis in 22.5 and 2.2% ulcers in 0.8 and 0% (p < 0.001). BO manifested as intestinal metaplasia (histological study of mucosal biopsy) was found in 30 SSD patients (4.2%). Screening revealed BO in 8.9% of the patients. The development of erosive oesophagitis was unrelated to the age of the patients, duration of the disease and its form (localized or diffusive), lung pathology or Sjogren's syndrome. Cytotoxic medicines significantly increased the frequency of erosive oesophagitis, it tended to increase under effect of NSAID and low doses of aspirin. Long-term intake of PPI did not reduce the risk of oesophagitis and BO. Half of the patients with SSD have oesophagitis. Over 20% of them suffer its complications (erosion and ulcers) and 9% have BO. All such patients need endoscopic study ofoesophagus regardless of clinical symptoms.

  9. Psychogenic dysphonia: diversity of clinical and vocal manifestations in a case series

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    Regina Helena Garcia Martins

    2014-12-01

    Full Text Available Introduction: Psychogenic dysphonia is a functional disorder with variable clinical manifestations. Objective: To assess the clinical and vocal characteristics of patients with psychogenic dysphonia in a case series. Methods: The study included 28 adult patients with psychogenic dysphonia, evaluated at a University hospital in the last ten years. Assessed variables included gender, age, occupation, vocal symptoms, vocal characteristics, and videolaryngostroboscopic findings. Results: 28 patients (26 women and 2 men were assessed. Their occupations included: housekeeper (n = 17, teacher (n = 4, salesclerk (n = 4, nurse (n = 1, retired (n = 1, and psychologist (n = 1. Sudden symptom onset was reported by 16 patients and progressive symptom onset was reported by 12; intermittent evolution was reported by 15; symptom duration longer than three months was reported by 21 patients. Videolaryngostroboscopy showed only functional disorders; no patient had structural lesions or changes in vocal fold mobility. Conversion aphonia, skeletal muscle tension, and intermittent voicing were the most frequent vocal emission manifestation forms. Conclusions: In this case series of patients with psychogenic dysphonia, the most frequent form of clinical presentation was conversion aphonia, followed by musculoskeletal tension and intermittent voicing. The clinical and vocal aspects of 28 patients with psychogenic dysphonia, as well as the particularities of each case, are discussed.

  10. Cryoglobulinemia and its correlation with clinical extrahepatic manifestations in chronic hepatitis C

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    Joanna Jabłońska

    2017-12-01

    Results: Cryoglobulins were found in 93 persons (37.8%. Type II cryoglobulinemia was detected in 28 persons. Patients with cryoglobulinemia were elder (p<0.0004. 54 patients (21.95% manifested clinical extrahepatic symptoms. Arthralgia was found in 27 cases (10.98%. Skin changes were found in 22 patients (8.94%. 12 persons had glomerulonephritis (4.88%. 11 patients (4.47% had sicca syndrome. 6 patients developed peripheral polyneuropathy (2.4%. 4 persons developed B cell lymphoma (1.63%. There was no correlation between presence of symptoms and grading, staging, age, HCV genotype, and the presence of autoantibodies. Extrahepatic manifestations were present more frequently in women (p<0.0008.

  11. Case Reports of Cat Scratch Disease with Typical and Atypical Clinical Manifestations: A Literature Review

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    Gulshan Umbreen

    2017-04-01

    Full Text Available Cat scratch disease (CSD is the most well-known zoonotic disease spread by domestic animals like cats. Cats are the source of Bartonella henselae. Most patients more than ninety percent 3-12 days after a scratch from a cat, undoubtedly a little cat with insects present with one or more erythematous injuries at the site of inoculation, the sore is typically a crusted papule or, once in a while, a pustule. More than half of cases in one study show that the systemic indications went with the lymphadenopathy. These may incorporate fever, discomfort, migraine and anorexia and frequently happen in immunocompromised patients. Atypically clinical manifestations happen are altered mental status, perplexity, prolonged fever, respiratory protestations (atypical pneumonitis, Joint pain, synovitis, Back agony is uncommon. The hypothesis of the study to find out that cat scratch disease cause typical and atypical clinical manifestation. Study was conducted July 2015 to September 2015. The methodology sections of a review article are listed all of the databases and citation indexes that were searched such as Web of Science and PubMed and any individual journals that were searched. Various case reports were mentioned in the study. Case reports of cat scratch diseases with typical and atypical clinical manifestation included in the study. The objective of review of these reporting cases is to make physicians aware about cat scratch diseases and also need to create awareness about cat scratch disease in pet owner. Although it is self-limiting needs to report to health authorities. There are few cases reported in which mostly cases reported in twain, japan, Brazil, Texas, United States, Dhaka, Spain with typical and atypical clinical manifestation

  12. Granulomatous slack skin. Histopathology diagnosis preceding clinical manifestations by 12 years.

    Science.gov (United States)

    Goldsztajn, Karen O; Moritz Trope, Beatriz; Ribeiro Lenzi, Maria Elisa; Cuzzi, Tullia; Ramos-E-Silva, Marcia

    2012-12-31

    Granulomatous slack skin is a very rare subtype of T-cell cutaneous lymphoma, characterized by the slow development of cutaneous sagging, especially on flexural areas. Its behavior is indolent and the treatment, in the majority of cases, disappointing. We report a 54-year-old black patient with granulomatous slack skin, who at the beginning of the investigation showed intense xeroderma and generalized lymph node enlargement. The diagnosis was established based on histopathologic findings long before the disease's characteristic clinical presentation appeared. During the twelve years of follow-up, the clinical manifestation evolved to marked skin looseness, most predominant in flexural regions, illustrating the clinical hallmark of granulomatous slack skin, long after first histological abnormalities were observed.

  13. Psychogenic dysphonia: diversity of clinical and vocal manifestations in a case series.

    Science.gov (United States)

    Martins, Regina Helena Garcia; Tavares, Elaine Lara Mendes; Ranalli, Paula Ferreira; Branco, Anete; Pessin, Adriana Bueno Benito

    2014-01-01

    Psychogenic dysphonia is a functional disorder with variable clinical manifestations. To assess the clinical and vocal characteristics of patients with psychogenic dysphonia in a case series. The study included 28 adult patients with psychogenic dysphonia, evaluated at a University hospital in the last ten years. Assessed variables included gender, age, occupation, vocal symptoms, vocal characteristics, and videolaryngostroboscopic findings. 28 patients (26 women and 2 men) were assessed. Their occupations included: housekeeper (n=17), teacher (n=4), salesclerk (n=4), nurse (n=1), retired (n=1), and psychologist (n=1). Sudden symptom onset was reported by 16 patients and progressive symptom onset was reported by 12; intermittent evolution was reported by 15; symptom duration longer than three months was reported by 21 patients. Videolaryngostroboscopy showed only functional disorders; no patient had structural lesions or changes in vocal fold mobility. Conversion aphonia, skeletal muscle tension, and intermittent voicing were the most frequent vocal emission manifestation forms. In this case series of patients with psychogenic dysphonia, the most frequent form of clinical presentation was conversion aphonia, followed by musculoskeletal tension and intermittent voicing. The clinical and vocal aspects of 28 patients with psychogenic dysphonia, as well as the particularities of each case, are discussed. Copyright © 2014 Associação Brasileira de Otorrinolaringologia e Cirurgia Cérvico-Facial. Published by Elsevier Editora Ltda. All rights reserved.

  14. Oral candidiasis as clinical manifestation of HIV/AIDS infection in Airlangga University hospital patients

    Science.gov (United States)

    Putranti, A.; Asmarawati, T. P.; Rachman, B. E.; Hadi, U.; Nasronudin

    2018-03-01

    The purpose of this study was to determine the characteristics of HIV/AIDS patients with oral candidiasis as its clinical manifestation at Airlangga University Hospital Surabaya. This is a descriptive analytic research with cross-sectional design using Chi-Square statistic test. Samples of this study consist of 34 patients using total sampling methods. Those patients were all HIV/AIDS infected patients with oral candidiasis clinical manifestations, who were admitted to Airlangga University Hospital Surabaya from January 2016 to September 2017. Results showed that mostly HIV/AIDS patients with oral candidiasis are male (79.4%), old age (40-75years) total amounted to 58.8%, heterosexual as main risk factor (70%), clinical stadium mostly in stage IV (61.8%), 26% of patients with chronic diarrhea and 56% with pulmonary TB, clinical stages of patients have a significant relation to the incidence of oral candidiasis infection (p=0.024). The most common oral lesions found in people with HIV are Candidiasis. The best management is through routine dental examination and dental precautions to maintain health and achieve a better quality of life.

  15. A clinical study of the cutaneous manifestations of hypothyroidism in kashmir valley

    Directory of Open Access Journals (Sweden)

    Mohammad Abid Keen

    2013-01-01

    Full Text Available Background: Thyroid disorders are known to involve all the organ systems of the body, the skin being no exception. The association of thyroid disorders with cutaneous manifestations is complex. Both hypothyroidism and hyperthyroidism are known to cause these changes. Aims: The present study was designed to ascertain the varied cutaneous manifestations of hypothyroidism. Materials and Methods: This study was a hospital based clinical study conducted in collaboration with the Endocrinology Division (Department of Medicine of SMHS Hospital (associated teaching hospital of Government Medical College Srinagar, over a period of one year, from May 2010 to May 2011. Four hundred and sixty consecutive diagnosed cases of hypothyroidism constituted the subject material for the study and were evaluated for the presence of any cutaneous manifestation. Results: In our study group of 460 patients, there were 416 females and 44 male patients. The predominant cutaneous symptom in our hypothyroid patients was dry coarse skin (65.22%, followed by hair loss (42.6% and puffy edema (38.48%. The most common cutaneous sign observed in hypothyroid patients was xerosis (57.17%, followed by diffuse hair loss (46.09%, altered skin texture (31.74%, coarse scalp hair (29.35% and puffy face (28.69%. Conclusions: The interaction between thyroid gland and skin is of profound clinical importance in dermatological practice. So, dermatologists need to be cognizant of the ways in which these two organs interact.

  16. Frequency and clinical manifestations of post-poliomyelitis syndrome in a brazilian tertiary care center

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    Abrahão Augusto Juviniano Quadros

    2012-08-01

    Full Text Available OBJECTIVE: To determine the frequency and clinical manifestations of patients with post-poliomyelitis syndrome (PPS in a Brazilian division of neuromuscular disorders. METHODS: A total of 167 patients with prior history of paralytic poliomyelitis was investigated for PPS, based on international diagnostic criteria. Other variables analyzed were: gender, race, age at poliomyelitis infection, age at PPS onset, and PPS symptoms. RESULTS: One hundred and twenty-nine patients presented PPS, corresponding to 77.2% of the studied population. 62.8% were women and 37.2% were men. Mean age of patients with PPS at onset of PPS symptoms was 39.9±9.69 years. Their main clinical manifestations were: new weakness in the previously affected limbs (69% and in the apparently not affected limbs (31%; joint pain (79.8%; fatigue (77.5%; muscle pain (76%; and cold intolerance (69.8%. CONCLUSIONS: Most patients of our sample presented PPS. In Brazil, PPS frequency and clinical features are quite similar to those of other countries.

  17. Do clinical manifestations of Systemic Lupus Erythematosus in Pakistan correlate with rest of Asia?

    Science.gov (United States)

    Rabbani, Malik Anas; Siddiqui, Bilal Karim; Tahir, Muhammad Hammad; Ahmad, Bushra; Shamim, A; Majid, Shahid; Ali, Syed Sohail; Shah, Syed Mansoor Ahmed; Ahmad, Aasim

    2006-05-01

    Systemic Lupus Erythematosus (SLE) is known to be different among people with different racial, geographical and socio-economic back grounds. Asia has diverse ethnic groups broadly, Orientals in the East and Southeast Asia, Indians in South Asia and Arabs in the Middle East. These regions differ significantly from the Caucasians with reference to SLE. The purpose of this study was, therefore, to delineate the clinical pattern and disease course in Pakistani patients with SLE and compare it with Asian data. Patients with SLE fulfilling the clinical and laboratory criteria of the American Rheumatism Association admitted at the Aga Khan University Hospital between 1986 and 2001 were studied by means of a retrospective review of their records. The results were compared with various studies in different regions of Asia. Demographically, it was seen that SLE is a disease predominantly of females in their third decade, which is generally consistent with Asian data. There was less cutaneous manifestations, arthritis, serositis, haematological and renal involvement compared to various regions in Asia. The neurological manifestations of SLE, however, place Pakistani patients in the middle of a spectrum between South Asians and other Asian races. This study has shown that the clinical characteristics of SLE patients in our country may be different to those of other Asian races. Although our population is similar to South Asians, but clinical manifestations of our SLE patients are considerably different, suggesting some unknown etiology. Further studies are required to confirm the above results and to find statistically sounder associations.

  18. Molecular analysis and association with clinical and laboratory manifestations in children with sickle cell anemia

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    Roberta Faria Camilo-Araújo

    2014-10-01

    Full Text Available Objectives: To analyze the frequency of βS-globin haplotypes and alpha-thalassemia, and their influence on clinical manifestations and the hematological profile of children with sickle cell anemia. Method: The frequency of βS-globin haplotypes and alpha-thalassemia and any association with clinical and laboratorial manifestations were determined in 117 sickle cell anemia children aged 3–71 months. The confirmation of hemoglobin SS and determination of the haplotypes were achieved by polymerase chain reaction-restriction fragment length polymorphism, and alpha-thalassemia genotyping was by multiplex polymerase chain reaction (single-tube multiplex-polymerase chain reaction. Results: The genotype distribution of haplotypes was 43 (36.7% Central African Republic/Benin, 41 (35.0% Central African Republic/Central African Republic, 20 (17.0% Rare/atypical, and 13 (11.1% Benin/Benin. The frequency of the α3.7 deletion was 1.71% as homozygous (−α3.7/−α3.7 and 11.9% as heterozygous (−α3.7/αα. The only significant association in respect to haplotypes was related to the mean corpuscular volume. The presence of alpha-thalassemia was significantly associated to decreases in mean corpuscular volume, mean corpuscular hemoglobin and reticulocyte count and to an increase in the red blood cell count. There were no significant associations of βS-globin haplotypes and alpha-thalassemia with clinical manifestations. Conclusions: In the study population, the frequency of alpha-thalassemia was similar to published data in Brazil with the Central African Republic haplotype being the most common, followed by the Benin haplotype. βS-globin haplotypes and interaction between alpha-thalassemia and sickle cell anemia did not influence fetal hemoglobin concentrations or the number of clinical manifestations.

  19. Advances in hepatitis E - II: Epidemiology, clinical manifestations, treatment and prevention.

    Science.gov (United States)

    Goel, Amit; Aggarwal, Rakesh

    2016-09-01

    Infection with hepatitis E virus (HEV) is the commonest cause of acute hepatitis worldwide. This infection, with fecal-oral transmission, was previously thought to be limited to humans residing in developing countries with poor sanitation, spreading via contaminated drinking water. In recent years, our understanding of epidemiology and clinical spectrum of this infection have changed markedly. This article reviews the epidemiology, including routes of transmission, and clinical manifestations of HEV infection around the world. In addition, recent findings on transmission-associated HEV infection, extrahepatic manifestations of hepatitis E and chronic infection with HEV, and treatment and prevention of this infection are discussed. Expert commentary: HEV infection has two distinct epidemiologic forms and clinical patterns of disease: (i) acute epidemic or sporadic hepatitis caused by fecal-oral (usually water-borne) transmission of genotype 1 and 2 HEV from a human reservoir in areas with poor hygiene and frequent water contamination, and (ii) infrequent sporadic hepatitis E caused by zoonotic infection, possibly from an animal source through ingestion of undercooked animal meal, of genotype 3 or 4 virus. In disease-endemic areas, pregnant women are at a particular risk of serious disease and high mortality. In less-endemic areas, chronic infection with HEV among immunosuppressed persons is observed. HEV can also be transmitted through Transfusion of blood and blood products. Ribivirin treatment is effective in chronic hepatitis E. Two efficacious vaccines have been tried in humans; one of these has received marketing approval in its country of origin.

  20. [Clinical and biological manifestations in primary parvovirus B19 infection in immunocompetent adult: a retrospective study of 26 cases].

    Science.gov (United States)

    Parra, D; Mekki, Y; Durieu, I; Broussolle, C; Sève, P

    2014-05-01

    Parvovirus B19 causes erythema infectiosum in children, transient aplastic anemia in patients with hemoglobinopathies, pur red cell aplasia in immunocompromised persons and hydrops fetalis in pregnancy. The spectrum of clinical and biological manifestations in immunocompetent adult continues to grow up. We report on a case series of 26 patients with primary parvovirus B19 infection in immunocompetent adults. This is a retrospective study over the period 2000 to 2010 in two departments of internal medecine. The diagnostic was clinical, serological or molecular. There was a female predominance (sex-ratio 3.33/1). Median patient age at diagnostic was 38.8 years (range: 18-68). The predominant symptoms were fever (65%), peripheral and symmetrical polyarthralgia (62%) and skin rash (58%). Two patients had neurological manifestations (sixth cranial nerve palsy, distal paresthesia) and one patient had myocarditis. Abnormal laboratory values included increased acute phase reactants (73%), thrombocytopenia (43%), lymphopenia (38%) and elevated liver enzymes (37%). Antinuclear (19%), anti-DNA (28%) and anti-phospholipids antibodies (14%), and hypocomplementemia (32%) were observed. False reaction with anti-CMV and anti-EBV IgM positivity was documented in 27% of cases. Two patients had persistent parvovirus B19 infection. The diversity of the clinical manifestations of parvovirus B19 infection may be misleading for the clinician. However, the diagnosis should be suspected in immunocompetent adults to limit the risk of transmission to the patients who could develop a severe infection such as pregnant women or immunocompromised patients. Copyright © 2013 Société nationale française de médecine interne (SNFMI). Published by Elsevier SAS. All rights reserved.

  1. Clinical manifestations that predict abnormal brain computed tomography (CT in children with minor head injury

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    Nesrin Alharthy

    2015-01-01

    Full Text Available Background: Computed tomography (CT used in pediatric pediatrics brain injury (TBI to ascertain neurological manifestations. Nevertheless, this practice is associated with adverse effects. Reports in the literature suggest incidents of morbidity and mortality in children due to exposure to radiation. Hence, it is found imperative to search for a reliable alternative. Objectives: The aim of this study is to find a reliable clinical alternative to detect an intracranial injury without resorting to the CT. Materials and Methods: Retrospective cross-sectional study was undertaken in patients (1-14 years with blunt head injury and having a Glasgow Coma Scale (GCS of 13-15 who had CT performed on them. Using statistical analysis, the correlation between clinical examination and positive CT manifestation is analyzed for different age-groups and various mechanisms of injury. Results: No statistically significant association between parameteres such as Loss of Consciousness, ′fall′ as mechanism of injury, motor vehicle accidents (MVA, more than two discrete episodes of vomiting and the CT finding of intracranial injury could be noted. Analyzed data have led to believe that GCS of 13 at presentation is the only important clinical predictor of intracranial injury. Conclusion: Retrospective data, small sample size and limited number of factors for assessing clinical manifestation might present constraints on the predictive rule that was derived from this review. Such limitations notwithstanding, the decision to determine which patients should undergo neuroimaging is encouraged to be based on clinical judgments. Further analysis with higher sample sizes may be required to authenticate and validate findings.

  2. Extra-Articular Manifestations of Rheumatoid Arthritis, Now

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    Paloma Vela

    2014-06-01

    Full Text Available Rheumatoid arthritis (RA is a chronic systemic inflammatory disease, characterised by polyarthritis and extra-articular organ disease, including rheumatoid nodules, ophthalmologic manifestations, cardiopulmonary disease, vasculitis, neuropathy, glomerulonephritis, Felty’s syndrome, and amyloidosis. Extra-articular manifestations of RA (ExRA occur in 17.8–40.9% of RA patients, 1.5–21.5% of them presenting as severe forms and usually associated with increased morbidity and mortality. They can develop at any time during the course of the disease, even in the early stages, and are associated with certain predisposing factors, such as the presence of rheumatoid factor, smoking, and long-standing severe disease. Rheumatoid nodules, the most common ExRA, have been found to be associated with the development of severe features, such as vasculitis, rheumatoid lung disease, pericarditis, and pleuritis, especially in those patients who develop them within 2 years from RA diagnosis. There is no uniformity in the definition of the term ExRA, which limits comparability between different studies. Several recent surveys suggest a lower frequency, probably due to a better control of disease activity. Diagnosis of ExRA is a challenge for clinicians, given its variable and complex presentation, and the lack of specific diagnostic tests; it must be based on clinical recognition and exclusion of other causes of the signs and symptoms. Furthermore, management continues to be difficult with a bad prognosis in many conditions. This article reviews the clinical aspects of major ExRA, focusing on incidence, clinical features, and therapeutic approaches, and how modern immunosuppressive therapy can change the outcome.

  3. Clinical evaluation of dengue and identification of risk factors for severe disease: protocol for a multicentre study in 8 countries

    OpenAIRE

    Jaenisch, Thomas; Tam, Dong Thi Hoai; Kieu, Nguyen Tan Thanh; Van Ngoc, Tran; Nam, Nguyen Tran; Van Kinh, Nguyen; Yacoub, Sophie; Chanpheaktra, Ngoun; Kumar, Varun; See, Lucy Lum Chai; Sathar, Jameela; Sandoval, Ernesto Pleit?s; Alfaro, Gabriela Maria Mar?n; Laksono, Ida Safitri; Mahendradhata, Yodi

    2016-01-01

    Background: The burden of dengue continues to increase globally, with an estimated 100 million clinically apparent infections occurring each year. Although most dengue infections are asymptomatic, patients can present with a wide spectrum of clinical symptoms ranging from mild febrile illness through to severe manifestations of bleeding, organ impairment, and hypovolaemic shock due to a systemic vascular leak syndrome. Clinical diagnosis of dengue and identification of which patients are like...

  4. Scrub typhus in South India: clinical and laboratory manifestations, genetic variability, and outcome.

    Science.gov (United States)

    Varghese, George M; Janardhanan, Jeshina; Trowbridge, Paul; Peter, John V; Prakash, John A J; Sathyendra, Sowmya; Thomas, Kurien; David, Thambu S; Kavitha, M L; Abraham, Ooriapadickal C; Mathai, Dilip

    2013-11-01

    This study sought to document the clinical and laboratory manifestations, genetic variability, and outcomes of scrub typhus, an often severe infection caused by Orientia tsutsugamushi, in South India. Patients admitted to a large teaching hospital with IgM ELISA-confirmed scrub typhus were evaluated. Clinical examination with a thorough search for an eschar, laboratory testing, chest X-ray, and outcome were documented and analyzed. Additionally, a 410-bp region of the 56-kDa type-specific antigen gene of O. tsutsugamushi was sequenced and compared with isolates from other regions of Asia. Most of the 154 patients evaluated presented with fever and non-specific symptoms. An eschar was found in 86 (55%) patients. Mild hepatic involvement was seen in most, with other organ involvement including respiratory, cardiovascular, and renal. Multi-organ dysfunction was noted in 59 (38.3%), and the fatality rate was 7.8%. Hypotension requiring vasoactive agents was found to be an independent predictor of mortality (p<0.001). The phylogeny of 26 samples showed 17 (65%) clustering with the Kato-like group and eight (31%) with the Karp-like group. The presentation of scrub typhus can be variable, often non-specific, but with potentially severe multi-organ dysfunction. Prompt recognition is key to specific treatment and good outcomes. Further study of the circulating strains is essential for the development of a successful vaccine and sensitive point-of-care testing. Copyright © 2013 International Society for Infectious Diseases. Published by Elsevier Ltd. All rights reserved.

  5. Season of birth, clinical manifestations and Dexamethasone Suppression Test in unipolar major depression

    Directory of Open Access Journals (Sweden)

    Kaprinis George S

    2007-08-01

    Full Text Available Abstract Background Reports in the literature suggest that the season of birth might constitute a risk factor for the development of a major psychiatric disorder, possibly because of the effect environmental factors have during the second trimester of gestation. The aim of the current paper was to study the possible relationship of the season of birth and current clinical symptoms in unipolar major depression. Methods The study sample included 45 DSM-IV major depressive patients and 90 matched controls. The SCAN v. 2.0, Hamilton Depression Rating Scale (HDRS and Hamilton Anxiety Scale (HAS were used to assess symptomatology, and the 1 mg Dexamethasone Suppression Test (DST was used to subcategorize patients. Results Depressed patients as a whole did not show differences in birth season from controls. However, those patients born during the spring manifested higher HDRS while those born during the summer manifested the lowest HAS scores. DST non-suppressors were almost exclusively (90% likely to be born during autumn and winter. No effect from the season of birth was found concerning the current severity of suicidal ideation or attempts. Discussion The current study is the first in this area of research using modern and rigid diagnostic methodology and a biological marker (DST to categorize patients. Its disadvantages are the lack of data concerning DST in controls and a relatively small size of patient sample. The results confirm the effect of seasonality of birth on patients suffering from specific types of depression.

  6. [CADASIL with clinical manifestations of baldness, lumbago and Parkinson's symptoms].

    Science.gov (United States)

    Ren, Zhixia; Chen, Shuai; Shi, Yingying; Zhang, Yuanxing; Wang, Wan; Chen, Zuzhi; Xia, Mingrong; Shi, Xiaohong; Zhang, Jiewen

    2017-12-10

    To investigate a cerebral autosomal dominant arteriopathy with the subcortical infarcts and leukoencephalopathy (CADASIL) case with clinical manifestations of baldness, lumbago and Parkinson's symptoms. Clinical and imaging data of the patient were analyzed. The patient and his family members were also subjected to genetic testing. The symptoms of the patient included recurrent stroke, dementia, and mood disturbance, in addition with lumbago, baldness and Parkinson's symptoms but no migraine. Cranial MRI of the patient showed bilateral symmetric leukoencephalopathy and multiple small subcortical lacunar infarcts. A point mutation in exon 11 of the NOTCH3 gene (R558C) was discovered in the proband and four asymptomatic relatives. CADASIL is characterized by recurrent subcortical ischemic stroke, dementia, pseudobulbar palsy, and mood disturbance. Baldness, lumbago and Parkinson's symptoms may also be seen in such patients.

  7. Neonatal hypoglycemia: prevalence and clinical manifestations in tehran children's hospital

    International Nuclear Information System (INIS)

    Dashti, N.; Einollahi, N.; Abbasi, S.

    2007-01-01

    To measure the prevalence of hypoglycemia among newborn infants in Children Hospital using a standard laboratory glucose method and to evaluate the evidence of clinical manifestations of hypoglycemia, designing appropriate strategies for prevention and treatment. The study population consisted of 673 neonates in Tehran Children's Hospital and was conducted between June 2004 and March 2005. The incidence of neonatal hypoglycemia in the present study group was 15.15% live births. The clinical features which remained significantly associated with the hypoglycemic neonates were refusal of feeding (45%), hyporeflexia (36.2%), irritability (30%), cyanosis (28.4%), tackypnea (24.5%), seizure (16.6%), weak cry (15.8%), apneic spels (9.8%), pallor (1.9%), cardiac arrest (9.1%) and sweating (1%). Hypoglycemia does occur frequently in newborn infants and requires careful monitoring and therapy of serum glucose. (author)

  8. Clinical manifestations and laboratory findings of 496 children with brucellosis in Van, Turkey.

    Science.gov (United States)

    Parlak, Mehmet; Akbayram, Sinan; Doğan, Murat; Tuncer, Oğuz; Bayram, Yasemin; Ceylan, Nesrin; Özlük, Suat; Akbayram, Hatice Tuba; Öner, Abdurrahman

    2015-08-01

    Brucellosis is the most common zoonotic disease worldwide and remains an important human disease especially in developing countries. The aim of the present study was to evaluate clinical manifestations and laboratory findings of childhood brucellosis in Van province of Eastern Turkey. To our knowledge, this is the largest series of childhood brucellosis reported in the literature. In this retrospective study, 496 children with brucellosis were assessed for the clinical manifestations and laboratory findings from July 2009 through December 2013. The diagnosis of brucellosis was based on clinical findings and a standard tube agglutination test (titer ≥ 1:160). Data were analyzed using Minitab version 16. The study included 496 children (boys, 60.5%) with a mean age of 10.0 ± 3.95 years (range, 1-16 years). The most frequent clinical symptoms were arthralgia (46.2%), fever (32.1%), and abdominal pain (17.1%) and the most common clinical signs were peripheral arthritis (10.1%), splenomegaly (2.2%) and hepatomegaly (1.8%). The most contagious seasons were summer and autumn (63.3%). Elevated lactate dehydrogenase and C-reactive protein and erythrocyte sedimentation rate were reported in 63.1%, 58.7%, and 55.2% of the patients, respectively. Anemia (20.4%), thrombocytopenia (15.5%), and leukopenia (12.1%) were the most common hematologic findings. Brucellosis remains a serious public health problem in Turkey. The clinical and laboratory characteristics of childhood brucellosis have been described in order to assist clinicians in diagnosing and monitoring the disease. © 2015 Japan Pediatric Society.

  9. [Clinical presentation of different severities of hemorrhagic fever with renal syndrome: how to recognise it].

    Science.gov (United States)

    Lausević, Mirjana; Lausević, Zeljko; Stojimirović, Biljana

    2012-07-01

    Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. A total of 30 patients (27 men and 3 women), average age 40 +/- 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30%) had mild, 14 (46.7%) moderate and 7 (23.3%) severe form of the disease; 24 (800%) recovered, 6 (20%) died in the acute phase of the illness, and 19 patients (63.3%) required hemodialysis. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables' combinations associated with clinical presentation of the disease. Our study confirmed that we can distinguish patients who will manifest different severities of the disease on the basis of careful

  10. Clinical presentation of different severities of hemorrhagic fever with renal syndrome: How to recognize it

    Directory of Open Access Journals (Sweden)

    Laušević Mirjana

    2012-01-01

    Full Text Available Background/Aim. Besides viral serotype, HLA haplotype and cytokine genes polymorphism are associated with clinical presentation of hemorrhagic fever with renal syndrome. Since these analyses are unavailable in routine clinical practice, the aim of this study was to assess clinical, laboratory and radiographic findings associated with clinical presentation of disease severity. Methods. A total of 30 patients (27 men and 3 women, average age 40 ± 14.9 years, treated for hemorrhagic fever with renal syndrome from January 1, 1999 to December 31, 2009 in Clinical Center of Serbia, were included in the study. Nine patients (30% had mild, 14 (46.7% moderate and 7 (23.3% severe form of the disease; 24 (80% recovered, 6 (20% died in the acute phase of the illness, and 19 patients (63.3% required hemodialysis. Results. The average titer of antiviral antibodies in patients infected with Belgrade serotype virus were significantly higher in those with severe clinical presentation. Hypotension, anuria, macrohaematuria, pulmonary infiltration, pleural effusion, hepatomegalia and positive meningeal signs were more frequent in the patients with severe form of the disease. Statistically significant differences between groups with mild, moderate and severe clinical picture were found in serum total protein, albumin, calcium, glutamate pyruvate and glutamate oxaloacetate transaminase on admittance; serum creatinine and phosphorus concentration on day 14 and day 21; serum sodium and calciums on day 14; hemoglobine concentration on day 21. A statistically significant correlation was found between clinical presentation of the disease severity and platelet count, white blood cell count, hemoglobine concentration, serum calcium and serum transaminases on admittance. Multivariate analysis identified variables` combinations associated with clinical presentation of the disease. Conclusion. Our study confirmed that we can distinguish patients who will manifest different

  11. [Clinical extraintestinal manifestations in patients with ulcerative colitis].

    Science.gov (United States)

    Toader, Elena

    2007-01-01

    Ulcerative colitis (UC) is a chronic disease clinically manifest either by bowel symptoms alone or extraintestinal symptoms. Our prospective study included 635 patients with ulcerative colitis (334 males and 301 females, mean age 37.54 +/- 13.84, range 20-70 years). The presence of the common extraintestinal symptoms (ES) was analyzed. Of the 635 investigated patients, these symptoms were found in 83 (13%, 49 males and 34 females, mean age 41.6 +/- 13.95 range 21-70). Patients with ES suffered longer from UC on the average, that is 60.6 years. Most commonly ES involved the joints, 38 (45.8%) patients, hepatobiliary, 28 patients (33.7%), skin, 10 patients (12%) and eyes, 7 patients (8.4%). In 18% of the patients two or more ES were present. ES were clinically detectable after the intestinal symptoms in 81% patients. An increased tendency of ES to occur in patients with a more extensive disease was noticed. The prevalence of ES in the UC patients from NE Romania is in agreement with data from other countries. The number of ES supports the need for complex follow-up in these patients.

  12. Predictors of oedema among children hospitalized with severe acute malnutrition in Jimma University Hospital, Ethiopia

    DEFF Research Database (Denmark)

    Girma, Tsinuel; Kæstel, Pernille; Mølgaard, Christian

    2013-01-01

    Severe acute malnutrition has two main clinical manifestations, i.e., oedematous and non-oedematous. However, factors of oedema are not well established.......Severe acute malnutrition has two main clinical manifestations, i.e., oedematous and non-oedematous. However, factors of oedema are not well established....

  13. Rheumatic manifestations of hepatitis C virus chronic infection: Indications for a correct diagnosis.

    Science.gov (United States)

    Palazzi, Carlo; D'Amico, Emilio; D'Angelo, Salvatore; Gilio, Michele; Olivieri, Ignazio

    2016-01-28

    Hepatitis C virus (HCV) is a hepato- and lymphotropic agent that is able to induce several autoimmune rheumatic disorders: vasculitis, sicca syndrome, arthralgias/arthritis and fibromyalgia. The severity of clinical manifestations is variable and sometimes life-threatening. HCV infection can mimic many primitive rheumatic diseases, therefore, it is mandatory to distinguish HCV-related manifestations from primitive ones because the prognosis and therapeutic strategies can be fairly dissimilar. The new direct-acting antivirals drugs can help to avoid the well-known risks of worsening or new onset of autoimmune diseases during the traditional interferon-based therapies.

  14. Studying Different Clinical Syndromes Of Paediatric Severe Malaria Using Plasma Proteomics

    KAUST Repository

    Ramaprasad, Abhinay

    2012-08-01

    Background- Severe Plasmodium falciparum malaria remains one of the major causes of childhood morbidity and mortality in Africa. Severe malaria manifests itself as three main clinical syndromes-impaired consciousness (cerebral malaria), respiratory distress and severe malarial anaemia. Cerebral malaria and respiratory distress are major contributors to malaria mortality but their pathophysiology remains unclear. Motivation/Objectives- Most children with severe malaria die within the first 24 hours of admission to a hospital because of their pathophysiological conditions. Thus, along with anti-malarial drugs, various adjuvant therapies such as fluid bolus (for hypovolaemia) and anticonvulsants (for seizures) are given to alleviate the sick child’s condition. But these therapies can sometimes have adverse effects. Hence, a clear understanding of severe malaria pathophysiology is essential for making an informed decision regarding adjuvant therapies. Methodology- We used mass spectrometry-based shotgun proteomics to study plasma samples from Gambian children with severe malaria. We compared the proteomic profiles of different severe malaria syndromes and generated hypotheses regarding the underlying disease mechanisms. Results/Conclusions- The main challenges of studying the severe malaria syndromes using proteomics were the high complexity and variability among the samples. We hypothesized that hepatic injury and nitric oxide play roles in the pathophysiology of cerebral malaria and respiratory distress.

  15. p.H1069Q mutation in ATP7B and biochemical parameters of copper metabolism and clinical manifestation of Wilson's disease.

    Science.gov (United States)

    Gromadzka, Graznya; Schmidt, Harmut H J; Genschel, Janine; Bochow, Bettina; Rodo, M; Tarnacka, Beatek; Litwin, Thomas; Chabik, Grzegorz; Członkowska, Anna

    2006-02-01

    We compared the effect of the p.H1069Q mutation and other non-p.H1069Q mutations in ATP7B on the phenotypic expression of Wilson's disease (WD), and assessed whether the clinical phenotype of WD in compound heterozygotes depends on the type of mutation coexisting with the p.H1069Q. One hundred forty-two patients with clinically, biochemically, and genetically diagnosed WD were studied. The mutational analysis of ATP7B was performed by direct sequencing. A total number of 26 mutations in ATP7B were identified. The p.His1069Gln was the most common mutation (allelic frequency: 72%). Seventy-three patients were homozygous for this mutation. Of compound heterozygotes, 37 had frameshift/nonsense mutation, and 20 had other missense mutation on one of their ATP7B alleles. Twelve patients had two non-p.H1069Q mutations. Patients homozygous for the p.H1069Q mutation had the less severe disturbances of copper metabolism and the latest presentation of first WD symptoms. The most severely disturbed copper metabolism and the earliest age at initial disease manifestation was noticed in non-p.H1069Q patients. In compound heterozygotes, the type of mutation coexisting with the p.H1069Q to a small extent influenced WD phenotype. The phenotype of WD varied considerably among patients with the same genotype. The p.H1069Q mutation is associated with late WD manifestation and with a mild disruption of copper metabolism. In compound heterozygotes, the phenotype of WD to a small extent depends on the type of mutation coexisting with the p.H1069Q. Besides genotype, additional modifying factors seem to determine WD manifestations. Copyright (c) 2005 Movement Disorder Society.

  16. GENDER-SPECIFIC CLINICAL MANIFESTATION OF UNIPOLAR DEPRESSION

    Directory of Open Access Journals (Sweden)

    Olivera Žikić

    2016-06-01

    Full Text Available It is well known that the incidence of depression is twice as often in women than in men. However, data about the clinical picture and the course of the disorder in men and in women are inconsistent. The purpose of our research is to find out if there are any differences in terms of symptomatology and course of unipolar depression in men and in women. The study included 84 subjects affected by unipolar depresson, who were divided in two groups according to the gender: a group of males, comprising 20 subjects and a group of female subjects, that comprised 64 affected persons. We used the general semistructured questionnaire with questions about the course of unipolar depression and sociodemographic data, Patient Health Questionnaire-9, Symptom Checklist-90-Revised (SCL- 90-R, Cambridge Depersonalization Scale (CDS and Beck Anxiety Inventory. Regarding symptoms occurring within unipolar depression, there was no statistically significant gender-specific difference finding. Males tended to somewhat higher frequency of anhedonia and hostility, while females tended to more frequent sleep disturbance and decrease in energy. In terms of the course of disorder, it was found that there was a statistically significant difference in the age at the onset of disorder (M:Ž=43.9:34.72 years and frequency of episodes (males had more frequent episodes. Men and women, affected by unipolar depression differ in terms of the course of unipolar depression, but not in the sense of its clinical manifestation.

  17. Clinical manifestations and growth of patients with urea cycle disorders in Japan.

    Science.gov (United States)

    Nakamura, Kimitoshi; Kido, Jun; Matsumoto, Shirou; Mitsubuchi, Hiroshi; Endo, Fumio

    2016-07-01

    We have previously examined the clinical manifestations, treatments and prognosis of 177 patients with urea cycle disorders (UCDs) from January 1999 to March 2009 in Japan. In this study, we investigated the incidence of clinical manifestations in different peak blood ammonia level at onset in UCD patients, and examined the growth of OTCD (ornithine transcarbamylase deficiency) patients. The UCD patients who had a high peak blood ammonia level at onset showed significantly high incidence of convulsion and abnormal head computed tomography or magnetic resonance imaging. The patients also showed significantly high incidence of hemodialysis and liver transplantation. Choice of therapeutic agents for long-term treatment is not different between peak blood ammonia levels at the onset, except for the use of special amino-acid formulas. Growth retardation is not affected by high peak blood ammonia level at onset; however, 32% of male and 52% of female OTCD patients over 1 year old were plotted under the 10th percentile, and showed growth failure. The final height of the male and female OTCD patients were 166.2±5.5 and 150.3±7.2 cm, respectively. Although the prognosis of UCDs was improved significantly, it is considered that there are still many difficulties in the UCD patient's life.

  18. [Analysis of clinical manifestations and genetic mutations in a child with Laron syndrome].

    Science.gov (United States)

    Chang, Guo-ying; Chen, Shao-ke; Gu, Xue-fan; Gong, Zhu-wen; Zhang, Qi-gang

    2013-12-01

    To analyze clinical manifestations and gene mutations in a child with severe short stature, explore its molecular mechanism and further clarify the diagnostic procedure for short stature. We observed clinical characteristics of a patient with short stature and did diagnostic examinations, assessed the function of GH-IGF-1 axis, and surveyed its family members.Genomic DNA was extracted from peripheral blood, GHR, IGFALS, STAT5b and GH1 gene were amplified by PCR for sequencing, including exons and splicing areas. The patient presented symmetrical short stature (height -8.2 SDS) and facial features, and other congenital abnormalities.It displayed non-growth hormone deficiency. The baseline value of GH was 21 µg/L, and the peak was 57.9 µg/L. The value of IGF-1 was less than 25 µg/L, and the IGFBP-3 less than 50 µg/L. And IGF-1 generation test showed no response. There was no similar patients in the family members.Sequencing of GHR in the patient revealed a homozygous point mutation (c.Ivs6+1G>A), and her father and mother had the same heterozygous mutation. The same mutation was not identified for her sister.No other candidate gene was found. As the result of combined clinical characteristics and lab examinations, as well as gene detection, the case was diagnosed with Laron syndrome and GHR gene mutation is the molecular mechanism.We should explicit the etiological diagnosis for short stature, and avoid missed diagnosis and misdiagnosis.

  19. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    Directory of Open Access Journals (Sweden)

    Johannsson Oskar

    2008-11-01

    Full Text Available Abstract Background Familial adenomatous polyposis (FAP is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined for the extracolonic manifestations. Methods Full genomic sequencing combined with multiplex ligation-dependent probe amplification was used to identify APC gene mutations, which were correlated to the clinical presentations. Results 10 novel APC gene mutations were identified in 11 families. A broad spectrum of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA developed colon cancer at age 72 as the first manifestation of attenuated FAP. Conclusion With an increasing number of FAP families diagnosed, a broad and variable tumor spectrum and a high frequency of extracolonic manifestations are gradually recognized. We report novel APC mutations and present two FAP cases that suggest familial aggregation of thyroid cancer and demonstrate the need to consider attenuated FAP also among elderly patients with colon cancer.

  20. Understanding patient values and the manifestations in clinical research with traditional chinese medicine-with practical suggestions for trial design and implementation.

    Science.gov (United States)

    Mu, Wei; Shang, Hongcai

    2013-01-01

    Objective. To define patient values, identify their manifestations in a randomized clinical trial, and investigate the possible implications for clinical research of traditional Chinese medicine. Methods. We categorized patient values manifestations into patient choice, preference, compliance, and patient-reported outcomes and summarized the underlying personal values through purposeful electronic searches for relevant reports. By hypothesizing a set of positive versus negative circumstances occurring in the enrollment, intervention allocation, treatment, and the follow-up stage of a trial, it is possible to discuss the potential implications of patient values manifestation on a trial with traditional Chinese medicine. Results. Patient values and its manifestations are ubiquitous in the process of clinical research with traditional Chinese medicine. These values may provide motivation for participation or engender the internal and external validity of the study. Conclusions. Trialists should attach sufficient importance to the needs and concerns of individual participant. To incorporate patient values into the design and conduct of a clinical study with traditional Chinese medicine, researchers are recommended to adopt participant-friendly design and use patient-reported outcomes, take convenience-for-patients measures, and help foster rational beliefs and behaviors of trial participants.

  1. Understanding Patient Values and the Manifestations in Clinical Research with Traditional Chinese Medicine—With Practical Suggestions for Trial Design and Implementation

    Directory of Open Access Journals (Sweden)

    Wei Mu

    2013-01-01

    Full Text Available Objective. To define patient values, identify their manifestations in a randomized clinical trial, and investigate the possible implications for clinical research of traditional Chinese medicine. Methods. We categorized patient values manifestations into patient choice, preference, compliance, and patient-reported outcomes and summarized the underlying personal values through purposeful electronic searches for relevant reports. By hypothesizing a set of positive versus negative circumstances occurring in the enrollment, intervention allocation, treatment, and the follow-up stage of a trial, it is possible to discuss the potential implications of patient values manifestation on a trial with traditional Chinese medicine. Results. Patient values and its manifestations are ubiquitous in the process of clinical research with traditional Chinese medicine. These values may provide motivation for participation or engender the internal and external validity of the study. Conclusions. Trialists should attach sufficient importance to the needs and concerns of individual participant. To incorporate patient values into the design and conduct of a clinical study with traditional Chinese medicine, researchers are recommended to adopt participant-friendly design and use patient-reported outcomes, take convenience-for-patients measures, and help foster rational beliefs and behaviors of trial participants.

  2. Intestinal morphological effect of brachytherapy of low rate of dose, administrated in therapeutic form and its clinical manifestations in uterine cervix tumors

    International Nuclear Information System (INIS)

    Mendoza, Carmen; Contreras, Manuel

    2005-01-01

    Brachytherapy is effective to eradicate cancer in the cervix, in order to obtain the control of disease we use high dose with vesical and rectum toxicity. The objective is to investigate if brachytherapy by itself is the cause of intestinal damage, to know in addition if the intensity of the clinic manifestations is in direct relation to the given radiation dose and this gets worse when it is received in several applications. Hypothesis: The intensity of the radiation with brachytherapy of low rate of dose is proportional to the degree of clinical manifestations and morphologic damage of the intestine. A prospective analysis was made inpatients with cancer of cervix from september 2000 to june 2004. Each patient who enters to the department of brachytherapy of the hospital must be done laboratory examination that includes plaque and coagulation test before being accepted. We use the clinical card and a table in order to register data concerning teletherapy, implants of brachytherapy of low rate of dose, symptoms of intestinal toxicity and details of colonoscopia. Subsequent to the hospitable discharge the patient is sent to gastroenterology for clinical evaluation and to realize colonoscopia. From september 2000 to june 2004, 540 patients entered, 80 patients (15%) displayed intestinal manifestations, all received teletherapy and brachytherapy, nobody else received brachytherapy in exclusive form and only one patient (0.1%) received the total of the dose in 2 applications. The equipment of teletherapy Primus with energy of 6 and 18 Mv and implants of brachytherapy Manchester were used (70/55 patients). 79 (98%) patients received dose between 85-75 Gy in one single application, 58 (72%) received the total of the dose to the tumor, 21 (26%) in vaginal mucosa. Discussion: Brachytherapy is the cause of the damages in the intestinal mucosa. (The author)

  3. Neurological Manifestations In Inflammatory Bowel Disease

    Directory of Open Access Journals (Sweden)

    youssef HNACH

    2015-06-01

    Full Text Available IntroductionThe purpose of this retrospective study was to report neurological manifestations noted in patients who were monitored for inflammatory bowel disease, in order to document the pathophysiological, clinical, progressive, and therapeutic characteristics of this entity.Material and methodsWe conducted a retrospective study on patients monitored -in the gastroenterology service in Ibn Sina Hospital in Rabat, Morocco- for inflammatory bowel disease from 1992 till 2013 and who developed neurological manifestations during its course. Patients with iatrogenic complications were excluded, as well as patients with cerebrovascular risk factors.ResultsThere were 6 patients, 4 of whom have developed peripheral manifestations. Electromyography enabled the diagnosis to be made and the outcome was favorable with disappearance of clinical manifestations and normalization of the electromyography.The other 2 patients, monitored for Crohn’s disease, developed ischemic stroke. Cerebral computed tomography angiography provided positive and topographic diagnosis. Two patients were admitted to specialized facilities.ConclusionNeurological manifestations in inflammatory bowel disease are rarely reported.  Peripheral neuropathies and stroke remain the most common manifestations. The mechanisms of these manifestations are not clearly defined yet. Currently, we hypothesize the interaction of immune mediators.

  4. Chaos theory for clinical manifestations in multiple sclerosis.

    Science.gov (United States)

    Akaishi, Tetsuya; Takahashi, Toshiyuki; Nakashima, Ichiro

    2018-06-01

    Multiple sclerosis (MS) is a demyelinating disease which characteristically shows repeated relapses and remissions irregularly in the central nervous system. At present, the pathological mechanism of MS is unknown and we do not have any theories or mathematical models to explain its disseminated patterns in time and space. In this paper, we present a new theoretical model from a viewpoint of complex system with chaos model to reproduce and explain the non-linear clinical and pathological manifestations in MS. First, we adopted a discrete logistic equation with non-linear dynamics to prepare a scalar quantity for the strength of pathogenic factor at a specific location of the central nervous system at a specific time to reflect the negative feedback in immunity. Then, we set distinct minimum thresholds in the above-mentioned scalar quantity for demyelination possibly causing clinical relapses and for cerebral atrophy. With this simple model, we could theoretically reproduce all the subtypes of relapsing-remitting MS, primary progressive MS, and secondary progressive MS. With the sensitivity to initial conditions and sensitivity to minute change in parameters of the chaos theory, we could also reproduce the spatial dissemination. Such chaotic behavior could be reproduced with other similar upward-convex functions with appropriate set of initial conditions and parameters. In conclusion, by applying chaos theory to the three-dimensional scalar field of the central nervous system, we can reproduce the non-linear outcome of the clinical course and explain the unsolved disseminations in time and space of the MS patients. Copyright © 2018 Elsevier Ltd. All rights reserved.

  5. Sclerodermatomyositis, ocular manifestations.

    Science.gov (United States)

    Pedroza-Seres, M; Serna-Ojeda, J C; Flores-Suárez, L F

    2017-07-01

    Sclerodermatomyositis is an overlap syndrome of myositis and scleroderma, with dermatological, muscular and joint involvement, but may also present with ocular manifestations. A 57 year-old woman presented with ophthalmological manifestations, including scleral thinning 360°, and the presence of cells in the anterior and posterior chamber. Oriented physical examination and laboratory studies led to the diagnosis, with the need for systemic treatment. Sclerodermatomyositis is a rare disease. Its diagnosis needs thorough clinical and laboratory studies, and its management should be multidisciplinary when inflammatory ocular manifestations may be present. Copyright © 2016 Sociedad Española de Oftalmología. Publicado por Elsevier España, S.L.U. All rights reserved.

  6. Rectal prolapse as initial clinical manifestation of colon cancer.

    Science.gov (United States)

    Chen, C-W; Hsiao, C-W; Wu, C-C; Jao, S-W

    2008-04-01

    Rectal prolapse as the initial clinical manifestation of colorectal cancer is uncommon. We describe the case of a 75-year-old woman who was diagnosed as having adenocarcinoma of the sigmoid colon after presenting with complete rectal prolapse. The tumor caused rectosigmoid intussusception and then it prolapsed out through the anus. She underwent rectosigmoidectomy and rectopexy. The postoperative course was uneventful. The relationship between colorectal cancer and rectal prolapse has not been clearly established. This case report describes an unusual presentation of colorectal cancer. It suggests that rectal prolapse can present as the initial symptom of colorectal cancer and may also be a presenting feature of the occult intra-abdominal pathology. The importance of adequate investigation such as colonoscopy should be emphasized in patients who develop a new onset of rectal prolapse.

  7. Cutaneous manifestations in patients with mastocytosis

    DEFF Research Database (Denmark)

    Hartmann, Karin; Escribano, Luis; Grattan, Clive

    2016-01-01

    with mastocytosis. To address this unmet need, an international task force involving experts from different organizations (including the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology) met several...... times between 2010 and 2014 to discuss the classification and criteria for diagnosis of cutaneous manifestations in patients with mastocytosis. This article provides the major outcomes of these meetings and a proposal for a revised definition and criteria. In particular, we recommend that the typical...

  8. Manifest dream content as a possible predictor of suicidality.

    Science.gov (United States)

    Glucksman, Myron L

    2014-12-01

    The prediction of suicidal intent remains a clinical problem. This presentation illustrates that a distinction may be made between the manifest dream reports of patients who are potentially or acutely suicidal and those who are not. A review of the literature reveals that the manifest dream reports of clinically depressed, non-suicidal individuals differ from those who are depressed and acutely suicidal. The former contain themes of loss, disappointment, rejection, helplessness, hopelessness, failure, and death. The latter contain themes of dying, death, destruction, and violence directed toward the dreamer or others, as well as hopelessness and helplessness. The author collected manifest dream reports from three clinically depressed, non-suicidal patients and three clinically depressed, potentially or acutely suicidal patients. There are apparent differences between the themes of manifest dream reports in the clinically depressed, non-suicidal patients and the clinically depressed, potentially or acutely suicidal patients. The former contain themes of death, loss, rejection, vulnerability, hopelessness, and helplessness. The latter contain themes of active harm or violence (specifically toward the dreamer), dying or being dead, aloneness, vulnerability, hopelessness, and helplessness. Clinical cases and corresponding manifest dream reports are presented. Although this is a preliminary study, it is possible that manifest dream content may be used as one of the predictors of suicidality, in conjunction with latent dream content, diagnosis, life circumstance, and clinical status.

  9. [A single metastasis in the carpal bones as the first clinical manifestation of a hepatocellular carcinoma].

    Science.gov (United States)

    Corrales Pinzón, R; Alonso Sánchez, J M; de la Mano González, S; El Karzazi Tarazona, K

    2014-01-01

    Hepatocellular carcinoma is the most common primary tumor of the liver. Spreading outside the liver usually takes place in advanced stages of the disease, and bone is the third most common site of metastases. We present a case of hepatocellular carcinoma in which the first clinical manifestation was a single metastasis to the carpal bones. The interest of this case lies in the way this hepatocellular carcinoma manifested as well as in the unusual site of the metastasis. Copyright © 2012 SERAM. Published by Elsevier Espana. All rights reserved.

  10. Aspergillus Osteomyelitis: Epidemiology, Clinical Manifestations, Management, and Outcome

    Science.gov (United States)

    Gamaletsou, Maria N.; Rammaert, Blandine; Bueno, Marimelle A.; Moriyama, Brad; Sipsas, Nikolaos V.; Kontoyiannis, Dimitrios P.; Roilides, Emmanuel; Zeller, Valerie; Prinapori, Roberta; Tajaldeen, Saad Jaber; Brause, Barry; Lortholary, Olivier; Walsh, Thomas J.

    2014-01-01

    Background The epidemiology, pathogenesis, diagnosis, and management of Aspergillus osteomyelitis are not well understood. Methods Protocol-defined cases of Aspergillus osteomyelitis published in the English literature were reviewed for comorbidities, microbiology, mechanisms of infection, clinical manifestations, radiological findings, inflammatory biomarkers, antifungal therapy, and outcome. Results Among 180 evaluable patients, 127 (71%) were males. Possible predisposing medical conditions in 103 (57%) included pharmacological immunosuppression, primary immunodeficiency, and neutropenia. Seventy-three others (41%) had prior open fracture, trauma or surgery. Eighty (44%) followed a hematogenous mechanism, 58 (32%) contiguous infections, and 42 (23%) direct inoculation. Aspergillus osteomyelitis was the first manifestation of aspergillosis in 77%. Pain and tenderness were present in 80%. The most frequently infected sites were vertebrae (46%), cranium (23%), ribs (16%), and long bones (13%). Patients with vertebral Aspergillus osteomyelitis had more previous orthopedic surgery (19% vs 0%; P=0.02), while those with cranial osteomyelitis had more diabetes mellitus (32% vs 8%; P=0.002) and prior head/neck surgery (12% vs 0%; P=0.02). Radiologic findings included osteolysis, soft-tissue extension, and uptake on T2-weighted images. Vertebral body Aspergillus osteomyelitis was complicated by spinal-cord compression in 47% and neurological deficits in 41%. Forty-four patients (24%) received only antifungal therapy, while 121(67%) were managed with surgery and antifungal therapy. Overall mortality was 25%. Median duration of therapy was 90 days (range, 10–772 days). There were fewer relapses in patients managed with surgery plus antifungal therapy in comparison to those managed with antifungal therapy alone (8% vs 30%; P=0.006). Conclusions Aspergillus osteomyelitis is a debilitating infection affecting both immunocompromised and immunocompetent patients. The most

  11. Gastrointestinal symptomatology as first manifestation of systemic erythematous lupus

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    Kovačević Zoran

    2009-01-01

    Full Text Available Background. Systemic lupus erithematodes (SLE is chronic, often febrile, multisystemic disease unknown origin and relapsing course which affects connective tissue of the skin, joints, kidney and serous membranes. Gastrointestinal manifestations are rarely the first sign of systemic lupus erythematosus. Case report. We presented a female patient, 35 years old, whose first symptoms of SLE were paralitic ileus (chronic intestinal pseudo-obstruction and polyserositis (pleural effusion and ascites. Except for high parameters of inflammation, leucopenia and thrombocytopenia, all immunological and laboratory tests for SLE were negative in the onset of the disease. During next six months the patient had clinical signs of paralitic ileus several times and was twice operated with progressive malabsorptive syndrome. The full picture of SLE was manifested seven months later associated with lupus nephritis. Treatment with cyclophosphamide, corticosteroids and total parenteral nutrition (30 days induced stable remission of the disease. Conclusion. The SLE can be initially manifested with gastroenterological symptoms without any other clinical and immunologic parameters of the disease. If in patients with SLE and gastrointestinal tract involvement malabsorption syndrom is developed, a treatment success depends on both immunosupressive therapy and total parenteral nutrition.

  12. Septo-optic dysplasia complex: Clinical and radiological manifestations in Omani children

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    Rana Al-Senawi

    2013-01-01

    Conclusion: SOD is a clinically heterogeneous disorder with a wide spectrum of ophthalmic, endocrine, and neurologic manifestations. All features might not be present in a single patient. A high consanguinity rate and lack of history of alcohol and drug use were observed in our cohort. Most affected children present first to the pediatrician with failure to thrive. Radiological confirmation of ONH necessitates high-resolution imaging and interpretation by an experienced neuro-radiologist. In our cohort, all patients with ONH had associated optic chiasmal hypoplasia. Early detection and treatment reduces disease-related morbidity, and can be life saving.

  13. Cardiac manifestation's history in the systemic lupus erythematosus

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    Iglesias Gamarra, Antonio; Rondon, Federico; Restrepo, Jose Felix

    2001-01-01

    In this paper it is broadly and in depth reviewed the cardiac manifestation's history of systemic lupus erythematosus (SLE), since an historical analysis of clinical manifestations both in pre and post corticosteroids period. The way how the heart and the cardiovascular system's functions have been studied by clinical and semiological views are showed, through clinical manifestations such as myocarditis pericarditis, endocarditis, rhythm alterations, etc, and the evolution of laboratory methods used to its study as well as immunologic prognostic markers and risk factors for coronary disease in SLE

  14. Clinical Manifestation of Acute Myocardial Infarction in the Elderly

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    Miftah Suryadipradja

    2003-12-01

    Full Text Available A retrospective study were performed in patients with acute myocardial infarction (AMI that hospitalized in ICCU Cipto Mangunkusumo hospital, Jakarta during the period of January 1994 until Decmber 1999. There were 513 patients hospitalized with MCI, 227 patients (44.2% were classified as elderly, and 35.2% of them were female. Most of the elderly AMI patients reported typical chest pain just like their younger counterparts. Elderly AMI patients tend to come later to the hospital, and more Q-wave myocardial infarction were identified compared to non- Q-wave myocardial infarction. Risk factors of diabetes mellitus and hypertension were more common among the elderly. The prevalence of atrial fibrillation and the mortality rate were higher among elderly AMI patients. (Med J Indones 2003; 12: 229-35 Keywords: clinical manifestation, acute myocardial infarction, elderly

  15. HYPERCORTISOLISM: CLASSIFICATION, PATHOGENESIS, CLINICAL MANIFESTATIONS. DIAGNOSIS OF ENDOGENOUS HYPERCORTISOLISM

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    Nikonova L. V.

    2017-02-01

    Full Text Available The relevance of the study of Cushing's syndrome with different etiology as well as the states of hypercorticism, which is not associated with endogenous hypercortisolism, is due to the difficulty of the diagnosis of this disease. Accurate knowledge of the classification criteria for the diagnosis of hypercorticism enables subsequently to establish the correct diagnosis and to administer the appropriate treatment. It was found that the cause of hypercorticism can be endogenous and exogenous factors. There is a particular group of patients requiring screening for hypercorticism using special diagnostic tests. Only a clear understanding of etiopathogenesis of hypercorticism and its clinical manifestations by the specialist, the correct interpretation of diagnostic results make it possible to establish the diagnosis, to administer the appropriate treatment and significantly reduce the morbidity and mortality of patients of this profile and improve their quality of life.

  16. Clinical Manifestations, Outcomes, and Etiologies of Perinatal Stroke in Taiwan: Comparisons between Ischemic, and Hemorrhagic Stroke Based on 10-year Experience in A Single Institute.

    Science.gov (United States)

    Lee, Chien-Chung; Lin, Jainn-Jim; Lin, Kuang-Lin; Lim, Wai-Ho; Hsu, Kai-Hsiang; Hsu, Jen-Fu; Fu, Ren-Huei; Chiang, Ming-Chou; Chu, Shih-Ming; Lien, Reyin

    2017-06-01

    Perinatal stroke is a common cause of established neurological sequelae. Although several risk factors have been identified, many questions regarding causes and clinical outcomes remain unanswered. This study investigated the clinical manifestations and outcomes of perinatal stroke and identified its etiologies in Taiwan. We searched the reports of head magnetic resonance imaging and computed tomography performed between January 2003 and December 2012. The medical records of enrolled infants with perinatal stroke were also reviewed. Thirty infants with perinatal stroke were identified; 10 infants had perinatal arterial ischemic stroke (PAIS) and 20 had perinatal hemorrhagic stroke (PHS). Neonatal seizure was the most common manifestation and presented in 40% of infants with PAIS and 50% of infants with PHS. All survivors with PAIS and 77% of the surviving infants with PHS developed neurological sequelae. Acute seizure manifestation was associated with poststroke epilepsy in infants with PHS but not in infants with PAIS (86% vs. 0%, p=0.005). PAIS was mostly caused by dysfunctional hemostasis (20%) and embolism (20%), whereas PHS was mostly attributable to birth asphyxia (30%). Perinatal stroke is associated with high mortality and morbidity rates in infants. Clinically, it can be difficult to distinguish PAIS and PHS. One should keep a high level of suspicion, especially for PHS, if infants develop unexplained seizure, cyanosis, conscious change, anemia, and/or thrombocytopenia. A systematic diagnostic approach is helpful in identifying the etiologies of perinatal stroke. Copyright © 2016. Published by Elsevier B.V.

  17. Zika and Spondweni Viruses: Historic Evidence of Misidentification, Misdiagnosis and Serious Clinical Disease Manifestations

    Science.gov (United States)

    2016-10-01

    isolations of 153 Zika virus from Aedes (Stegomyia) africanus (Theobald) taken in and above a Uganda Forest. 154 Bulletin of the World Health...1 Zika and Spondweni viruses : Historic evidence of misidentification, misdiagnosis, and serious clinical disease manifestations Andrew D...serogroup (family Flaviviridae, genus Flavivirus) consists of two members: Zika 3 and Spondweni viruses . Both viruses have been historically misidentified

  18. Acute Hemichorea Can Be the Only Clinical Manifestation of Post-Varicella Vasculopathy: Two Pediatric Clinical Cases

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    Chiara Davico

    2018-03-01

    Full Text Available Acute hemichorea can occur in the context of infectious, autoimmune, metabolic, toxic, and vascular neuropathologies. Primary infection by varicella zoster virus (VZV can result in vasculopathy with neurological manifestations, such as hemiparesis, at times accompanied by hemichorea. Isolated hemichorea, however, had not been reported. We here describe two cases of VZV-induced vasculopathy whose sole clinical manifestation was acute hemichorea. Both cases involved young boys of 3 years of age, who presented with acute hemichorea 4–6 months after initial VZV infection. All hematological, immunological, and toxicological tests were normal, except for the presence of VZV IgG. Brain structural magnetic resonance imaging (MRI and magnetic resonance angiography revealed specific signs of vasculitis and ischemic lesions in the basal ganglia region (lentiform nucleus, thalamus, and internal capsule. Following corticosteroid and acetylsalicylic acid treatment, full symptomatic recovery was achieved within 3 weeks. Repeated MRI documented full neurostructural recovery, which was confirmed at extended follow-up for more than 1 year. These cases indicate that VZV-induced vasculopathy should be considered in the case of pediatric isolated acute hemichorea.

  19. Clinical manifestations of antiphospholipid syndrome (APS) with and without antiphospholipid antibodies (the so-called 'seronegative APS').

    Science.gov (United States)

    Rodriguez-Garcia, Jose Luis; Bertolaccini, Maria Laura; Cuadrado, Maria Jose; Sanna, Giovanni; Ateka-Barrutia, Oier; Khamashta, Munther A

    2012-02-01

    Although the medical literature currently provides a growing number of isolated case reports of patients with clinically well-defined antiphospholipid syndrome (APS) and persistently negative antiphospholipid antibodies (aPL), there are no studies including a series of patients addressing the clinical features of this condition. The authors assessed clinical manifestations of APS in 154 patients: 87 patients with seropositive APS and 67 patients with thrombosis and/or pregnancy morbidity persistently negative for aPL and presenting with at least two additional non-criteria manifestations of APS (the so-called 'seronegative APS', SN-APS). Patients were interviewed at the time of recruitment, and a retrospective file review was carried out. There were no significant differences in the frequency of thrombotic events or obstetric morbidity in patients with SN-APS versus patients with seropositive APS: deep vein thrombosis (31.4% vs 31.0%), pulmonary embolism (23.8% vs 28.7%), stroke (14.9% vs 17.2%), transient ischaemic attack (11.9% vs 10.3%), early spontaneous abortions (67.1% vs 52.1%), stillbirths (62.5% vs 59.4%), prematurity (28.1% vs 21.7%) or pre-eclampsia (28.1% vs 23.1%). Classic and SN-APS patients show similar clinical profiles. The results suggest that clinical management in patients with APS should not be based only on the presence of conventional aPL.

  20. Bartter and Gitelman syndromes: Spectrum of clinical manifestations caused by different mutations

    Science.gov (United States)

    Al Shibli, Amar; Narchi, Hassib

    2015-01-01

    Bartter and Gitelman syndromes (BS and GS) are inherited disorders resulting in defects in renal tubular handling of sodium, potassium and chloride. Previously considered as genotypic and phenotypic heterogeneous diseases, recent evidence suggests that they constitute a spectrum of disease caused by different genetic mutations with the molecular defects of chloride reabsorption originating at different sites of the nephron in each condition. Although they share some characteristic metabolic abnormalities such as hypokalemia, metabolic alkalosis, hyperplasia of the juxtaglomerular apparatus with hyperreninemia, hyperaldosteronism, the clinical and laboratory manifestations may not always allow distinction between them. Diuretics tests, measuring the changes in urinary fractional excretion of chloride from baseline after administration of either hydrochlorothiazide or furosemide show very little change (< 2.3%) in the fractional excretion of chloride from baseline in GS when compared with BS, except when BS is associated with KCNJ1 mutations where a good response to both diuretics exists. The diuretic test is not recommended for infants or young children with suspected BS because of a higher risk of volume depletion in such children. Clinical symptoms and biochemical markers of GS and classic form of BS (type III) may overlap and thus genetic analysis may specify the real cause of symptoms. However, although genetic analysis is available, its use remains limited because of limited availability, large gene dimensions, lack of hot-spot mutations, heavy workup time and costs involved. Furthermore, considerable overlap exists between the different genotypes and phenotypes. Although BS and GS usually have distinct presentations and are associated with specific gene mutations, there remains considerable overlap between their phenotypes and genotypes. Thus, they are better described as a spectrum of clinical manifestations caused by different gene mutations. PMID:26140272

  1. Intramuscular manifestation of non-Hodgkin lymphoma and myeloma: Prevalence, clinical signs, and computed tomography features

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    Surov, Alexey; Spielmann, Rolf-Peter; Behrmann, Curd (Dept. of Radiology, Martin Luther Univ., Halle-Wittenberg (Germany)), e-mail: alex.surow@medizin.uni-halle.de; Holzhausen, Hans-Juergen (Dept. of Hematology/Oncology, Martin Luther Univ., Halle-Wittenberg (Germany)); Arnold, Dirk (Dept. of Pathology, Martin Luther Univ., Halle-Wittenberg (Germany)); Schmidt, Joerg (Dept. of Medical Statistics and Controlling, Martin Luther Univ., Halle-Wittenberg (Germany))

    2010-01-15

    Background: Intramuscular manifestations of malignant immuno proliferative diseases (IMMID) are very rare. Purpose: To determine the prevalence and the clinical features of IMMID in a large series of patients, and to analyze their radiological appearances. Material and Methods: Between 1997 and 2007, 20 patients with IMMID (non-Hodgkin lymphoma [NHL], n=14, and myeloma, n=6) were identified. All patients underwent computed tomography (CT). In five cases, magnetic resonance imaging (MRI) was additionally performed. Results: Clinically, 16 patients presented with local pain and soft-tissue swelling. In four patients, IMMID was found incidentally. The most common site was the erector spinae muscle, followed by the iliopsoas and pelvic muscles. In 13 cases of IMMID, diffuse mass-forming muscle infiltration was found. Focal intramuscular masses were identified in seven cases. Conclusion: NHL mostly manifests as diffuse muscle enlargement, whereas myelomas form focal intramuscular masses. Nevertheless, CT and MR appearances are nonspecific and can be misinterpreted as muscle sarcoma or inflammatory disease. Although rare, muscle involvement should be considered in the differential diagnosis of muscle disorders in patients with non-Hodgkin lymphoma and myeloma

  2. Sesame seed allergy: Clinical manifestations and laboratory investigations

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    Fazlollahi MR.

    2007-10-01

    Full Text Available Background: Plant-origin foods are among the most important sources of food allergic reactions. An increase in the incidence of sesame seed allergy among children and adults has been reported in recent years. The aim of this preliminary study was to investigate the prevalence, importance and clinical manifestations of sesame allergy among Iranian patients.Methods: In a cross-sectional survey, 250 patients with suspected IgE-mediated food allergies completed a questionnaire and underwent skin prick tests with sesame extract as well as cross-reacting foods (walnut, soya and peanut. Total IgE and sesame-specific IgE levels were measured. Patients with positive skin test reactions and/or IgE specific for sesame without clinical symptoms were considered sensitive to sesame. The patients who also had clinical symptoms with sesame consumption were diagnosed as allergic to sesame.Results: Of the 250 patients enrolled in this study, 129 were male and 121 female, with a mean age of 11.7 years. The most common food allergens were cow's milk, egg, curry, tomato and sesame. Sesame sensitivity was found in 35 patients (14.1%. Only five patients (2% had sesame allergy. Sesame-sensitive patients had a significantly higher frequency of positive prick test to cross-reacting foods when compared to non-sensitized patients (p=0.00. The type of symptom was independent of gender and age of the patients, but urticaria and dermatitis-eczema were significantly more frequent in sensitized patients (p=0.008.Conclusions: This is the first study addressing the prevalence of sesame seed allergy in Iranian population. We found sesame to be a common and important cause of food allergy. The panel of foods recommended for use in diagnostic allergy tests should be adjusted.

  3. Haematological manifestations of lupus

    Science.gov (United States)

    Fayyaz, Anum; Igoe, Ann; Kurien, Biji T; Danda, Debashish; James, Judith A; Stafford, Haraldine A; Scofield, R Hal

    2015-01-01

    Our purpose was to compile information on the haematological manifestations of systemic lupus erythematosus (SLE), namely leucopenia, lymphopenia, thrombocytopenia, autoimmune haemolytic anaemia (AIHA), thrombotic thrombocytopenic purpura (TTP) and myelofibrosis. During our search of the English-language MEDLINE sources, we did not place a date-of-publication constraint. Hence, we have reviewed previous as well as most recent studies with the subject heading SLE in combination with each manifestation. Neutropenia can lead to morbidity and mortality from increased susceptibility to infection. Severe neutropenia can be successfully treated with granulocyte colony-stimulating factor. While related to disease activity, there is no specific therapy for lymphopenia. Severe lymphopenia may require the use of prophylactic therapy to prevent select opportunistic infections. Isolated idiopathic thrombocytopenic purpura maybe the first manifestation of SLE by months or even years. Some manifestations of lupus occur more frequently in association with low platelet count in these patients, for example, neuropsychiatric manifestation, haemolytic anaemia, the antiphospholipid syndrome and renal disease. Thrombocytopenia can be regarded as an important prognostic indicator of survival in patients with SLE. Medical, surgical and biological treatment modalities are reviewed for this manifestation. First-line therapy remains glucocorticoids. Through our review, we conclude glucocorticoids do produce a response in majority of patients initially, but sustained response to therapy is unlikely. Glucocorticoids are used as first-line therapy in patients with SLE with AIHA, but there is no conclusive evidence to guide second-line therapy. Rituximab is promising in refractory and non-responding AIHA. TTP is not recognised as a criteria for classification of SLE, but there is a considerable overlap between the presenting features of TTP and SLE, and a few patients with SLE have concurrent

  4. Clinical manifestations and outcome of tuberculous sclerokeratitis.

    Science.gov (United States)

    Shoughy, Samir S; Jaroudi, Mahmoud O; Tabbara, Khalid F

    2016-09-01

    To study the clinical manifestations and outcome of patients with tuberculous sclerokeratitis treated with antituberculous therapy without concomitant use of systemic steroids. We reviewed retrospectively the medical records of eight consecutive patients with tuberculous sclerokeratitis. Patients were treated unsuccessfully with topical and/or systemic steroids. They underwent complete ophthalmic examination, systemic evaluation, laboratory investigations and imaging. Tuberculin skin test was done with purified protein derivative (PPD) on all patients. The diagnosis of tuberculous sclerokeratitis was made based on clinical findings of scleritis with adjacent peripheral corneal stromal keratitis, positive PPD test of 15 mm of induration or more, response to antituberculous treatment (ATT) within 4 weeks and exclusion of other causes of sclerokeratitis. Antituberculous drugs were given for a minimum of 6 months without concomitant use of corticosteroids. The outcome measure was resolution of the ocular surface inflammation of the sclera and cornea. Eight consecutive patients with a diagnosis of tuberculous sclerokeratitis were included. There were one male and seven female patients. The mean age was 29 years with an age range of 7-43 years. The involvement of the sclera was nodular in six patients and diffuse in two. The involvement of the cornea consisted of peripheral corneal stromal inflammation adjacent to the area of scleritis. Patients responded to antituberculous medications with complete resolution of the sclerokeratitis without topical or systemic anti-inflammatory agents. Antituberculous medications can lead to complete resolution of the sclerokeratitis without concomitant use of steroids, or other anti-inflammatory agents. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://www.bmj.com/company/products-services/rights-and-licensing/

  5. Clinical and radiological study of osteoarticular manifestations of systemic lupus erythematosus

    International Nuclear Information System (INIS)

    Kubota, E.S.; Rocha Correa Fernandes, A. da; Wichrowski, M.

    1990-01-01

    The ostearticular involvement in systemic lupus erythematosus (SLE) is the most frequent manifestation of this illness, which develops with activity and remission periods. In spite of the recurrence, it presents without clinic sequelae in great part of the cases. The objective of this study was to evaluate patients with prolonged osteoarticular involvement, remaining with or without sequelae. Within a total of 115 patients with SLE there have been studied 21 patients that presented clinic evidences of chronic synovitis, deforming arthropathy with the presence of cysts, erosions, narrowing of the articular space, periepiphyseal osteopenia, and 4 cases with deforming arthropathy alone. In just 2 cases of chronic synovitis with radiologic changes there have been association with deforming arthropathy. Asseptic necrosis occurred in 8 cases being multiple and symmetric in 7 cases. The association with previous corticosteroid use was found in all patients, as well as an important systemic activity of the illness in the precedent period of the asseptic necrosis diagnosis. (author) [pt

  6. Cerebral venous thrombosis: Update on clinical manifestations, diagnosis and management

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    Leys Didier

    2008-01-01

    Full Text Available Cerebral venous thrombosis (CVT has a wide spectrum of clinical manifestations that may mimic many other neurological disorders and lead to misdiagnoses. Headache is the most common symptom and may be associated with other symptoms or remain isolated. The other frequent manifestations are focal neurological deficits and diffuse encephalopathies with seizures. The key to the diagnosis is the imaging of the occluded vessel or of the intravascular thrombus, by a combination of magnetic resonance imaging (MRI and magnetic resonance venography (MRV. Causes and risk factors include medical, surgical and obstetrical causes of deep vein thrombosis, genetic and acquired prothrombotic disorders, cancer and hematological disorders, inflammatory systemic disorders, pregnancy and puerperium, infections and local causes such as tumors, arteriovenous malformations, trauma, central nervous system infections and local infections. The breakdown of causes differs in different parts of the world. A meta-analysis of the most recent prospectively collected series showed an overall 15% case-fatality or dependency rate. Heparin therapy is the standard therapy at the acute stage, followed by 3-6 months of oral anticoagulation. Patients with isolated intracranial hypertension may require a lumbar puncture to remove cerebrospinal fluid before starting heparin when they develop a papilloedema that may threaten the visual acuity or decompressive hemicraniectomy. Patients who develop seizures should receive antiepileptic drugs. Cerebral venous thrombosis - even pregnancy-related - should not contraindicate future pregnancies. The efficacy and safety of local thrombolysis and decompressive hemicraniectomy should be tested

  7. Coronary heart disease clinical manifestation and risk factors in Japanese immigrants and their descendents in the city of São Paulo

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    Amato Reynaldo Vicente

    2003-01-01

    Full Text Available OBJECTIVE: To assess whether a difference exists in coronary heart disease clinical manifestations and the prevalence of risk factors between Japanese immigrants and their descendents in the city of São Paulo. METHODS: Retrospective analysis of coronary artery disease clinical manifestations and the prevalence of risk factors, comparing 128 Japanese immigrants (Japanese group with 304 Japanese descendents (Nisei group. RESULTS: The initial manifestation of the disease was earlier in the Nisei group (mean = 53 years, a difference of 12 years when compared with that in the Japanese group (mean = 65 years (P<0.001. Myocardial infarction was the first manifestation in both groups (P = 0.83. The following parameters were independently associated with early coronary events: smoking (OR = 2.25; 95% CI = 1.35-3.77; P<0.002; Nisei group (OR = 10.22; 95% CI = 5.64-18.5; P<0.001; and female sex (OR = 5.04; 95% CI = 2.66-9.52; P<0.001. CONCLUSION: The clinical presentation of coronary heart disease in the Japanese and their descendents in the city of São Paulo was similar, but coronary heart disease onset occurred approximately 12 years earlier in the Nisei group than in the Japanese group.

  8. Clinical manifestations and pathophysiology of lissencephaly

    International Nuclear Information System (INIS)

    Oi, Shizuo; Sasaki, Koji; Yamada, Hiroshi; Ando, Shoko; Tamura, Yasunori; Fukuda, Kuniaki; Furukawa, Seikyo; Matsumoto, Satoshi.

    1985-01-01

    Four cases of lissencephaly were analyzed in light of clinical manifestations, CT findings and the state of hydrocephalus. Lissencephaly had been diagnosed mainly by autopsy until CT scan was introduced in the early 1970's. Since then, diagnosis of lissencephaly early in life is possible. Presently the major interest in this congenital CNS anomaly, which is caused by a neuronal migration disorder in the relatively late stages of fetal development, is to learn the dynamic pathophysiological state and management. The purpose of this paper is to analyze those points of lissencephaly in diagnosis during life and possible treatment in the hydrocephalic state. The common findings in CT in all four cases are as follows: No. 1. smooth cortical surface (agyria--pachygyria), No. 2. wide sylvian fissure (complete or incomplete lack of opercularization, No. 3. ventricular dilatation (remarkable bilateral enlargement of lateral ventricle and third ventricle--colpocephaly), No. 4. wide subdural or subarachnoid space in supratentorial region, No. 5. periventricular low density, No. 6. midline cavum, No. 7. normal CT findings in posterior fossa structure. Three out of four patients demonstrated full or bulged and tense anterior fontanella. Because of this suggestion of increased intracranial pressure and enlarged ventricles with periventricular lucency in CT findings, one patient underwent CT cisternography for dynamic analysis of the CSF circulation and continuous ICP monitoring for dynamic evaluation of the ICP pattern. The results revealed very much delayed CSF circulation and intermittently increased. ICP, with pressure waves appearing in 35.7 % of all recordings. (J.P.N.)

  9. [Clinical manifestation of Lyme borreliosis in children with positive and negatiwe western blot results].

    Science.gov (United States)

    Ołdak, Elzbieta; Rozkiewicz, Doroto; Sulik, Artur

    2008-01-01

    In the afforested area of North-Eastern Poland the risk of Borrelia burgdorferi infection seems to be higher compared to the other regions. Because of unspecific clinical manifestation of Lyme borreliosis in children the positive ELISA IgM results should be confirmed with Western blot IgM tests. Retrospective analysis of clinical signs and symptoms of Lyme borreliosis in children with positive ELISA IgM and positive Western blot IgM results and in children with positive ELISA IgM and negative Western blot IgM results. The study included 20 children reactive with ELISA IgM (Bellco Biomedica, Austria), hospitalized in Pediatric Infectious Diseases Clinic in 2007 due to probable diagnosis of Lyme disease. All children were tested with B. burgdorferi Western blot IgM and/or IgG assay (DRG, Diagnostics, Germany) as a second-step diagnosis. In 10 (50% females, 50% males) out of 20 children the results were positive (borreliosis) and in other 10 (80% females, 20% males) the results were negative (controls). In both groups of patients the retrospective analysis of signs and symptoms was done. The most often clinical manifestation of Lyme borreliosis in children was neuroborreliosis. Children presented Lyme meningitis (30%), facial nerve palsy (10%) and chronic or recurrent headaches (40%), associated with vertigo (20%), weakness (30%), fever (40%), and fatigue syndrome (30%). One patient presented Lyme arthritis. Children of control group presented with unspecific symptoms like isolated headaches (40%), arthralgias (70%), myalgias (10%) and abdomen pain (20%) (1) The most frequent clinical presentation of Lyme borreliosis in analyzed children was neuroborreliosis; (2) Isolated arthralgias in children reactive with B. burgdorferi ELISA IgM need to be confirmed with Western blot assay before implementing the antibiotic therapy.

  10. Radiographic manifestations of hypochondroplasia

    Energy Technology Data Exchange (ETDEWEB)

    Heselson, N G; Cremin, B J [Groote Schuur Hospital, Cape Town (South Africa); Beighton, P

    1979-01-01

    Hypochrondroplasia is an inherited skeletal dysplasia that resembles achondroplasia in mild degree. Radiographic manifestations encountered in 12 affected individuals in South Africa include slight shortening of all segments of the tubular bones, moderate caudal diminution of the lumbar interpedicular distances, increased lumbar lordosis with cacral tilt and distal prolongation of the fibular. Hypochondroplasia can be distinguished from other osteochondrodystrophies such as achondroplasia, pseudo-achondroplasia and metaphyseal chondroplasia by the recognition of it clinical and radiographic manifestations.

  11. Clinical manifestations in patients with computerized tomography diagnosis of neurocysticercosis

    International Nuclear Information System (INIS)

    Pfuetzenreiter, Marcia Regina; Avila-Pires, Fernando Dias de

    1999-01-01

    A survey was conducted in the urban area of Lages using patients who had been submitted to a computed tomography of the skull in the period of March-December, 1996, for different reasons. Forty-two patients with a provisional diagnosis of neurocysticercosis, and 57 negatives were personally interviewed by one of the authors (Pfuetzenreiter), using a semi-structured procedure. More individuals with a provisional diagnostic of neurocysticercosis reported clinical manifestations related to this infection than those found negative. this difference is more marked among women, except in relation to convulsions, more frequently reported by men (19.05%) than by women (7.14%). The greater percentage of inactive forms (83.33%0 and a longer history of perceived symptoms among those positives suggest that the condition is not new. (author)

  12. Epidemiological characteristics and clinical manifestations of hepatitis E virus infection in Bulgaria: A report on 20 patients

    Directory of Open Access Journals (Sweden)

    Baymakova Magdalena

    2016-01-01

    Full Text Available Introduction. Hepatitis E is one of the leading clinical manifestations of acute viral hepatitis in developing countries. In industrialized countries, during the past several years, sporadic “autochthonous” cases of HEV infection have been increased. Objective. The aim of this study was to analyze the epidemiological, clinical and laboratory features of HEV infection among patients hospitalized at the Department of Infectious Diseases in Military Medical Academy, Sofia, Bulgaria. Methods. A retrospective study of 806 cases of acute viral hepatitis was performed at the Department of Infectious Diseases in Military Medical Academy, Sofia, Bulgaria, between December 2004 and September 2012. The etiological diagnosis was established by ELISA. The statistical analysis was performed using Excel 2007 (Microsoft, Redmond, Washington, USA and SPSS Statistics 19.0 (IBM Corp., Armonk, New York, USA. Results. Specific reaction to anti-HEV-IgM and anti-HEV-IgG antibodies were detected in 20 (2.48% of 806 patients. The most observed clinical presentations were jaundice (85%, fatigue (85%, anorexia (65%, abdominal discomfort (55% and fever (40%. The mean values of aspartate transaminase and alanine transaminase were 521 IU/l and 881 IU/l, respectively. The cholestasis was slight, marked with mean values of gamma-glutamyl transferase and alkaline phosphatase, respectively 418 IU/l and 486 IU/l. Conclusion. We report twenty autochthonous sporadic cases of acute infection with HEV. The zoonotic etiology of the virus as well as the foodborne transmission of the infection is discussed. We found that aging and pre-existing underlying diseases are risk factors for a severe course of the HEV infection.

  13. Skin Manifestations of Endocrine Diseases.

    Science.gov (United States)

    Demirkesen, Cuyan

    2015-01-01

    Endocrine diseases may result in changes in cutaneous function and morphology, which cause various skin manifestations, including nonspecific or pathognomonic signs. Some of these manifestations are already known dermatologic diseases with only increased frequency in this patient group. As a result the skin may the play role of a screen displaying endocrine disorders, either due to hormone excess or deficiency. Awareness of the skin manifestations may permit prompt and adequate approach to the patients, and therefore facilitate the early diagnosis of the endocrine disease and even be life saving. Some of these manifestations may be recognized clinically, but sometimes they need to be confirmed histopathologically. In this article, many endocrine diseases and their associated skin lesions will be reviewed briefly.

  14. Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations (II): thrombocytopenia and skin manifestations.

    Science.gov (United States)

    Cervera, R; Tektonidou, M G; Espinosa, G; Cabral, A R; González, E B; Erkan, D; Vadya, S; Adrogué, H E; Solomon, M; Zandman-Goddard, G; Shoenfeld, Y

    2011-02-01

    The objectives of the 'Task Force on Catastrophic Antiphospholipid Syndrome (APS) and Non-criteria APS Manifestations' were to assess the clinical utility of the international consensus statement on classification criteria and treatment guidelines for the catastrophic APS, to identify and grade the studies that analyze the relationship between the antiphospholipid antibodies and the non-criteria APS manifestations, and to present the current evidence regarding the accuracy of these non-criteria APS manifestations for the detection of patients with APS. This article summarizes the studies analyzed on thrombocytopenia and skin manifestations, and presents the recommendations elaborated by the Task Force after this analysis.

  15. Diagnosing antiphospholipid syndrome: 'extra-criteria' manifestations and technical advances.

    Science.gov (United States)

    Sciascia, Savino; Amigo, Mary-Carmen; Roccatello, Dario; Khamashta, Munther

    2017-09-01

    First described in the early 1980s, antiphospholipid syndrome (APS) is a unique form of acquired autoimmune thrombophilia in which patients present with clinical features of recurrent thrombosis and pregnancy morbidity and persistently test positive for the presence of antiphospholipid antibodies (aPL). At least one clinical (vascular thrombosis or pregnancy morbidity) and one lab-based (positive test result for lupus anticoagulant, anticardiolipin antibodies and/or anti-β2-glycoprotein 1 antibodies) criterion have to be met for a patient to be classified as having APS. However, the clinical spectrum of APS encompasses additional manifestations that can affect many organs and cannot be explained exclusively by patients being in a prothrombotic state; clinical manifestations not listed in the classification criteria (known as extra-criteria manifestations) include neurologic manifestations (chorea, myelitis and migraine), haematologic manifestations (thrombocytopenia and haemolytic anaemia), livedo reticularis, nephropathy and valvular heart disease. Increasingly, research interest has focused on the development of novel assays that might be more specific for APS than the current aPL tests. This Review focuses on the current classification criteria for APS, presenting the role of extra-criteria manifestations and lab-based tests. Diagnostic approaches to difficult cases, including so-called seronegative APS, are also discussed.

  16. A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN HIV PATIENTS

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    Ravinder

    2015-12-01

    Full Text Available BACKGROUND HIV/AIDS is a multi system disorder with ocular involvement is about 70-80% of HIV patient occupational exposure to HIV is a significant health hazard for the treating clinicians including Eye Surgeons. AIM To study and evaluation of ocular manifestation in HIV patients attending out patient. MATERIALS AND METHODS It is observational study of 104 HIV+ve cases for a period of 1 year those patients who attended ophthalmic out patient department. RESULTS 73 were males (70.19% and 31 were females (29.80%. Majority of the patients belongs to age group of 15-50 years. Out of 104 patients 83(79.80% were married and 21(20.20% were unmarried. HIV was predominantly seen in labourers 41(32.42%. The predominant mode of transmission of sexual (Hetero Sexual transmission. HIV infection was predominantly seen in uneducated patients 64(61.53%. Total No. of ocular findings in 51 cases out of 75 with anterior Uveitis, Conjunctival microvasculopathy, Herpes Simplex Keratitis and Conjunctivitis are the most common anterior segment manifestation. CMV retinitis, HIV Microvasculopathy are the most common posterior segment manifestation. CONCLUSIONS Ophthalmologists should be familiar with common and uncommon ocular manifestations of AIDS+ve cases and their diagnosis and treatment, as early and proper treatment can Salvage their vision and improve the quality of life.

  17. Parthenium dermatitis severity score to assess clinical severity of disease

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    Kaushal K Verma

    2017-01-01

    Full Text Available Background: Parthenium dermatitis is the most common type of airborne contact dermatitis in India. It is a chronic disease of a remitting and relapsing course with significant morbidity and distress, but there is no scoring system to assess its severity. Aim: To design a scoring system for the assessment of clinical severity of disease in Parthenium dermatitis and to use this scoring system in various studies to determine its sensitivity, specificity, and reproducibility. Methods and Results: In our first few studies on Parthenium dermatitis, we designed and used a basic clinical severity scoring system based on itching, morphology of the lesions, and areas involved. However, in subsequent studies, we modified it to the present scoring system as Parthenium dermatitis severity score (PDSS. Our studies showed the high sensitivity of PDSS in characterization of the disease severity at the given point of time, as well as to determine the efficacy of a prescribed treatment modality which was reliable and reproducible. Conclusion: Thus, PDSS may be used by clinicians for appropriate scoring of the clinical severity of Parthenium dermatitis and in monitoring the disease response to therapy.

  18. Cutaneous manifestations of polycystic ovary syndrome: A cross-sectional clinical study

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    Mohammad Abid Keen

    2017-01-01

    Full Text Available Background: Polycystic ovary syndrome (PCOS is one of the most common endocrine disorders in women, affecting 5–10% of reproductive-aged women. The dermatologic manifestations of hyperandrogenism, chiefly hirsutism, acne vulgaris, androgenic alopecia, and acanthosis nigricans, are among the cardinal manifestations of PCOS. Aim: To study the incidence and prevalence of various cutaneous manifestations in patients with PCOS and to correlate these skin manifestations with hormonal changes. Settings and Design: This study was conducted at a dermatology centre over a period of 1 year from November 2012 to 2013. Materials and Methods: The present study included 100 women diagnosed to have PCOS. Hormonal analysis as well as radiological assessment was done in all the cases. Cutaneous manifestations were ascertained and inferences were drawn. Statistical Analysis: Statistical analysis was carried out by the Chi-square test and independent samples t-test. Statistical significance was determined at a level of P < 0.05. Results: In our study, the prevalence of hirsutism, acne, female pattern hair loss, acanthosis nigricans, seborrhea, striae and acrochordons was 78%, 48%, 31%, 30%, 29%, 13%, and 9%, respectively. Conclusion: Dermatologic manifestations of PCOS play a significant role in making the diagnosis and constitute a substantial portion of the symptoms experienced by women with this syndrome.

  19. Acromegaly with Normal Insulin-Like Growth Factor-1 Levels and Congestive Heart Failure as the First Clinical Manifestation

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    Hyae Min Lee

    2015-09-01

    Full Text Available The leading cause of morbidity and mortality in patients with acromegaly is cardiovascular complications. Myocardial exposure to excessive growth hormone can cause ventricular hypertrophy, hypertension, arrhythmia, and diastolic dysfunction. However, congestive heart failure as a result of systolic dysfunction is observed only rarely in patients with acromegaly. Most cases of acromegaly exhibit high levels of serum insulin-like growth factor-1 (IGF-1. Acromegaly with normal IGF-1 levels is rare and difficult to diagnose. Here, we report a rare case of an acromegalic patient whose first clinical manifestation was severe congestive heart failure, despite normal IGF-1 levels. We diagnosed acromegaly using a glucose-loading growth hormone suppression test. Cardiac function and myocardial hypertrophy improved 6 months after transsphenoidal resection of a pituitary adenoma.

  20. Nephrolithiasis as a common urinary system manifestation of inflammatory bowel diseases; a clinical review and meta-analysis.

    Science.gov (United States)

    Ganji-Arjenaki, Mahboube; Nasri, Hamid; Rafieian-Kopaei, Mahmoud

    2017-07-01

    The extra-intestinal manifestations of inflammatory bowel disease (IBD) are common and involve other organs or systems for example; urinary system. For this review, we used a variety of sources by searching through Web of Science, PubMed, EMBASE, Scopus and directory of open access journals (DOAJ). Urinary complications may occur in up to 22% of patients and nephrolithiasis or renal/kidney stones have been suggested to be a common manifestation of disease in forms of uric acid, calcium phosphate or calcium oxalate. We performed a meta-analysis on five clinical trials and reported that correlation between IBD and formation of stone in renal system is positive and significant (Fix-effect model; CI: 95%, P <0.001, and randomeffect model; CI: 95%, P = 0.03). Based on the reports of the clinical trials, calcium oxalate is more prevalent in Crohn's disease (CD) than in ulcerative colitis (UC).

  1. Pulmonary Embolism as the First Manifestation of Multiple Myeloma

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    N. Vallianou

    2013-01-01

    Full Text Available Multiple myeloma is considered a hypercoagulable state due to several mechanisms such as the increased IL-6 and immunoglobulins production, the defective fibrinolytic mechanism, and the acquired resistance to activated protein C that are involved in the pathogenesis and clinical futures of the disease. We describe a case of a female patient who presented to the hospital with pulmonary embolism as the first manifestation of the hypercoagulability of multiple myeloma.

  2. A multicentre study of 513 Danish patients with systemic lupus erythematosus. I. Disease manifestations and analyses of clinical subsets

    DEFF Research Database (Denmark)

    Jacobsen, S; Petersen, J; Ullman, S

    1998-01-01

    duration of follow-up was 8.2 years from diagnosis and 12.8 years from first symptom. This paper describes the most common clinical and laboratory manifestations and their relationship to sex and age at the time of onset and diagnosis. Cluster analysis revealed three clinically defined clusters at the time...

  3. The problem of gastroptosis as a manifestation of undifferentiated connective tissue dysplasia in the clinical practice of pediatric gastroenterologist

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    O.M. Shulhai

    2018-04-01

    Full Text Available In the article, the authors describe a clinical case of undifferentiated connective tissue dysplasia in 10- and 15-year-old girls. This pathology is common because it has a lot of clinical, morphological and visceral manifestations, but it is hard to diagnose. Many chronic diseases have been formed based on this pathology. Clinical cases in this article describe confirmed gastroptosis (greater curvature of the stomach is displaced downwards, below the level of the iliac crests in standing position as one of the visceral manifestations of undifferentiated connective tissue dysplasia, laboratory and instrumental findings that help to diagnose this syndrome. Gastroptosis occurs in children with asthenic type of constitution (elongated limbs, thin body, small chest, narrow shoulders, hypermobility of the joints. It comes from weak development of muscle and connective tissues so they can not endure overload, resulting is many problems, including the gastroptosis, visceroptosis etc. There are many causes of gastroptosis: congenital anomalies of the ligamentous apparatus structure, maternal disease during pregnancy, surgical intervention, sharp decrease in body weight, vitamin and proteins deficiency, irrational nutrition, lengthening the mesentery of an organ such as large intestine. If we know clinical manifestations and features of undifferentiated connective tissue dysplasia, it will allow diagnosing this pathology in a timely manner and will help more fully provide medical care to such patients, carry out their rehabilitation, psychological ada­ptation, and prevent early development of disability.

  4. Cutaneous manifestations of HIV/AIDS: Part I | Dlova | Southern ...

    African Journals Online (AJOL)

    Human immunodeficiency virus (HIV) infection can lead to a variety of clinical cutaneous manifestations. These cutaneous disorders occur universally during the course of HIV infection. Cutaneous manifestations of HIV are very diverse. The course and clinical presentation of HIV in individuals who have access to highly ...

  5. Intrathoracic manifestations of Rosai-Dorfman disease.

    Science.gov (United States)

    Cartin-Ceba, Rodrigo; Golbin, Jason M; Yi, Eunhee S; Prakash, Udaya B S; Vassallo, Robert

    2010-09-01

    Rosai-Dorfman Disease (RDD), also known as Sinus Histiocytosis with Massive Lymphadenopathy (SHML), is a rare monocyte/macrophage proliferative disorder of varied biological behavior. Although cutaneous and lymph node involvement are relatively well-described, intrathoracic manifestations of RDD have only occasionally been reported. We conducted a retrospective computer-assisted search of the Mayo Clinic record from 1976 to 2005 for patients with histopathologic evidence of RDD on organ biopsy. Clinical characteristics were abstracted from charts and thoracic manifestations recorded. Survival was estimated using the national social security database. A total of 21 patients were diagnosed with RDD over a period of 30 years; 9 had intrathoracic manifestations (43%). Main pulmonary symptoms included dyspnea and cough. Age at the time of diagnosis, gender, race, smoking history, mortality and time of survival after diagnosis were no different between RDD patients with and without intrathoracic manifestations. The most common radiographic thoracic manifestation was mediastinal lymphadenopathy (6 patients). Cystic change, interstitial lung disease, and airway disease were radiographically evident in 4 patients. Seven patients were treated at some point in the course of their disease, most commonly with oral corticosteroids. At the time of last follow-up 87% were alive, with a median (IQR) time interval since diagnosis of 8 years (4-9.7). Intrathoracic manifestations of RDD are relatively common and include mediastinal lymphadenopathy, airway disease, pleural effusion, cystic and interstitial lung disease. Although limited in size, this series suggests the prognosis of patients with RDD and intrathoracic manifestations is relatively good.

  6. Ocular Manifestations of Acquired Immunodeficiency Syndrome.

    Science.gov (United States)

    Kim, Young Shin; Sun, Hae Jung; Kim, Tae Hyong; Kang, Kui Dong; Lee, Sung Jin

    2015-08-01

    To investigate the patterns and risk factors of the ocular manifestations of acquired immunodeficiency syndrome (AIDS) and their correlation with CD4+ count in the era of highly active antiretroviral therapy (HAART). This retrospective study examined 127 AIDS patients who presented to Soonchunhyang University Hospital. Data were collected from patient interviews, clinical examinations, and laboratory investigations. Ophthalmologic examinations included the best-corrected visual acuity, intraocular pressure, anterior segment and adnexal examination, and dilated fundus examination. Of the 127 patients with AIDS, 118 were on HAART and 9 were not. The mean CD4+ count was 266.7 ± 209.1 cells/µL. There were ocular manifestations in 61 patients (48.0%). The incidence of anterior segment manifestations was higher than posterior segment manifestations at 28.3% and 19.7%, respectively. The mean CD4+ count was significantly (p AIDS. In this study, anterior segment and external ocular manifestations occurred more frequently than posterior segment manifestations. Also, the mean CD4+ count was significantly lower in patients with posterior segment ocular manifestations versus anterior segment ocular manifestations. We found that CD4+ count and age >35 years were independent risk factors for developing ocular manifestations.

  7. RHEUMATOID ARTHRITIS WITH SYSTEMIC MANIFESTATIONS: DIAGNOSIS, INDICATORS OF AN UNFAVORABLE COURSE

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    B D Nazarov

    2012-01-01

    Full Text Available The systemic manifestations of rheumatoid arthritis (RA are fairly diverse. They are associated with high disease activity and an increased risk for deaths, primarily from cardiovascular events. Objective: to study the frequency and spectrum of extra-articular manifestations of RA. Subjects and methods. The trial enrolled 119 patients, including 110 women and 19 men (mean age 47.4+4.3 years, with the reliable and valid diagnosis of RA (mean duration 9.4+3.3 years. The patients were divided into 2 groups: 1 78 patients with the extra-articular manifestations of RA (a study group; 2 44 patients without these signs (a comparison group. Clinical, laboratory, instrumental, and morphological studies were made using current diagnostic methods. Results. By and large, the extra-articular manifestations of RA are closely associated with its activity and joint lesion severity. The study group most commonly had anemia (71.4%, rheumatoid nodules (29.4%, generalized amyotrophy (26.9%, lymphadenopathy (26.1%, prolonged fever (24.4%, and rheumatoid vasculitis (18.5%. The development of extra-articular manifestations was associated with the activity and late diagnosis of RA and rheumatoid factor seropositivity.

  8. Clinical manifestations and hematological and serological findings in children with dengue infection

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    Mulya Rahma Karyanti

    2011-06-01

    Full Text Available Background Dengue hemorrhagic fever (DHF is endemic to Indonesia and remains a public health problem, with its highest incidence in children. There have been few reports on the clinical, hematological and serological data in children \\\\lith dengue. Objective To assess the clinical and laboratory profiles of children \\\\lith dengue infection in Cipto Mangunkusumo Hospital, Jakarta, Indonesia. Methods Clinical, hematological and serological infonnation from children diagnosed v.ith dengue infection in Cipto Mangunkusumo Hospital were collected from 2007 to 2009. Results Of611 children admitted with dengue, 143 (23.4% had dengue fever (DF, 252 (41.2% had DHF grades I and II; and 216 (35.4% had DHF grades III and IV. Of the 81 cases where dengue serotypes were identified, 12.3% were DENV1, 35.8% were DENV-2, 48.2% were DENV-3 and 3.7% were DENV-4. Mean age of subjects was 8.9 years (SD 4.4, and 48.4% of cases were boys. The mean length of fever before hospital admission was 4.2 days (SD 1.1 and mean length of stay in the hospital was 4 days (SD 2.7. Common symptoms observed were petechiae, hepatomegaly and epistaxis. Complications found mostly in those with dengue shock syndrome (DSS were hematemesis (30 cases, 4.9% of all patients, encephalopathy (19 cases, 3.1 % and melena (17 cases, 2.8%. Conclusion Signs and symptoms of fever, bleeding manifestations and thrombocytopenia were present in children 'With DF and DHF, while signs of increased vascular permeability were found only in those 'With DHF. Encephalopathy and gastrointestinal bleeding were found mostly in DSS cases. At admission, leukopenia was found in more DF patients than in DHF patients. Absence of leukopenia may be a sign of more severe dengue infection.

  9. Clinical manifestations in uveitis patients with and without rheumatic disease in a Chinese population in Taiwan.

    Science.gov (United States)

    Tseng, Shi-Ting; Yao, Tsung-Chieh; Huang, Jing-Long; Yeh, Kuo-Wei; Hwang, Yih-Shiou

    2017-12-01

    Uveitis can be a local eye disease or a manifestation of systemic rheumatologic disorders. However, the differences of clinical manifestations between uveitis patients with or without systemic rheumatologic disease have been seldom described in literature. We investigated the clinical features and complications of rheumatic disease-related uveitis, and compared the characteristics in patients with and without rheumatic disease in a Chinese population in Taiwan. A retrospective review was performed for all patients who had been diagnosed with uveitis between January 2009 and June 2014 at the Department of Ophthalmology, Chang Gung Memorial Hospital, Taoyuan, Taiwan. A total of 823 uveitis patients were enrolled in the study, including 123 patients with rheumatic diseases. The most frequent rheumatic diseases included ankylosing spondylitis (5.8%), followed by Behçet's disease (2.8%), sarcoidosis (1.4%), psoriasis (1.1%), and juvenile idiopathic arthritis (1.1%). Compared with patients without rheumatic disease, those with rheumatic disease-related uveitis had a lower mean age at onset (35.1 ± 15.8 years vs. 44.0 ± 17.5 years), a longer follow-up period (27.1 ± 25.3 months vs. 22.2 ± 23.0 months), a higher incidence of anterior uveitis (69.0% vs. 46.3%), less frequent posterior uveitis (4.9% vs. 21.4%), a higher incidence of recurrence (26.8% vs. 14.1%), more frequent bilateral involvement (53.7% vs. 38.8%), and more frequent posterior synechiae (17.2% vs. 9.4%). The disease course and clinical manifestations of rheumatic disease-related uveitis were different from those unrelated. Patients with rheumatic disease-related uveitis had a higher recurrent rate and more frequent posterior synechiae than patients without rheumatic diseases. Copyright © 2015. Published by Elsevier B.V.

  10. Cardiovascular manifestations of Alkaptonuria.

    Science.gov (United States)

    Pettit, Stephen J; Fisher, Michael; Gallagher, James A; Ranganath, Lakshminarayan R

    2011-12-01

    The cardiovascular manifestations of alkaptonuria relate to deposition of ochronotic pigment within heart valves, endocardium, aortic intima and coronary arteries. We assessed 16 individuals with alkaptonuria for cardiovascular disease, including full electrocardiographic and echocardiographic assessment. The self reported prevalence of valvular heart disease and coronary artery disease was low. There was a significant burden of previously undiagnosed aortic valve disease, reaching a prevalence of over 40% by the fifth decade of life. The aortic valve disease was found to increase in both prevalence and severity with advancing age. In contrast to previous reports, we did not find a significant burden of mitral valve disease or coronary artery disease. These findings are important for the clinical follow-up of patients with alkaptonuria and suggest a role for echocardiographic surveillance of patients above 40 years old.

  11. Man made disease: clinical manifestations of low phenylalanine levels in an inadequately treated phenylketonuria patient and mouse study.

    Science.gov (United States)

    Pode-Shakked, Ben; Shemer-Meiri, Lilach; Harmelin, Alon; Stettner, Noa; Brenner, Ori; Abraham, Smadar; Schwartz, Gerard; Anikster, Yair

    2013-01-01

    Phenylalanine (Phe) deficiency and its clinical manifestations have been previously described mostly as sporadic case reports dating back to the 1960's and 1970's. In these reports, low plasma Phe levels were associated with listlessness, eczematous eruptions and failure to gain weight, most often in infants in their first year of life. Herein we describe a 9 month old female patient with known phenylketonuria, who presented with an unusual constellation of symptoms, including severe erythema and desquamation, alopecia, keratomalacia, corneal perforation, failure to thrive and prolonged diarrhea. The diagnostic possibilities of acrodermatitis enteropathica and vitamin deficiencies were ruled out, and further investigation into her medical history led to the conclusion that during the weeks preceding the hospitalization, the patient's diet consisted of the phenylalanine-free medical formula alone, without the addition of a standard infant formula or food as recommended. Subsequently, dietary control of the blood phenylalanine levels brought swift and marked resolution of the dermatological lesions, with renewal of hair growth. Following this experience, and due to the relative paucity of data regarding the clinical manifestations of low serum phenylalanine levels in humans and their putative pathogenetic mechanisms, we sought to further investigate the effects of a phenylalanine-free diet in a mouse study. For this purpose, twenty mice were randomly allocated to receive either a phenylalanine-deficient diet (n=10) or a normal diet (n=10). Weight was measured weekly, and laboratory tests were obtained including complete blood count, electrolyte studies, and phenylalanine and tyrosine levels. Finally, necropsies and histopathological examinations of different tissues were performed in selected mice, either early after diet initiation, late after diet initiation or following re-introduction of normal diets. The study was then repeated in additional two groups of mice

  12. Using dreams to assess clinical change during treatment.

    Science.gov (United States)

    Glucksman, Myron L; Kramer, Milton

    2004-01-01

    This article describes several studies that examine the relationship between the manifest content of selected dreams reported by patients and their clinical progress during psychoanalytic and psychodynamically oriented treatment. There are a number of elements that dreaming and psychotherapy have in common: affect regulation; conflict resolution; problem-solving; self-awareness; mastery and adaptation. Four different studies examined the relationship between the manifest content of selected dreams and clinical progress during treatment. In each study, the ratings of manifest content and clinical progress by independent observers were rank-ordered and compared. In three of the four studies there was a significant correlation between the rankings of manifest content and the rankings of clinical progress. This finding suggests that the manifest content of dreams can be used as an independent variable to assess clinical progress during psychoanalytic and psychodynamically oriented treatment.

  13. Clinical manifestations of atopy in children up to two years of age

    Directory of Open Access Journals (Sweden)

    Ilić Nevenka

    2011-01-01

    Full Text Available Background/Aim. Atopic diseases such as atopic dermatitis, allergic rhinitis and asthma have had increased prevalence during the past decade and nowadays occur in every third child in developed countries. The aim of the study was to determine frequency and type of atopic diseases at the age of two, as well as the importance the total IgE antibodies concentrations have in diagnosis and prognosis of the disease. Methods. The study involved 175 children up to two years of age. Allergy-like symptoms were found after surveying their parents and pediatric medical records. Using the fluorescence immunossay (FIA method, total IgE antibodies concentrations and specific IgE antibodies (Phadiatop infant were determined on an Immunocap 100 Dyagnostic System. Results. One or more allergy-like symptoms accounted for 57.7% of findings in children under the age of two, whilst in 19.4% the existence of IgE-related allergic diseases was found. Atopic diseases usually have clinical manifestations of atopic dermatitis (11.4%, IgE-bound wheezing/asthma (10.8% and food allergies (7.4%, and to much lesser extent those of allergic rhinitis (3.4% and urticaria (1.7%. The significantly higher total IgE antibodies concentrations were found in children with allergy-like symptoms (p < 0.0005 (cut-off 15.15 kU/L, sensitivity 76.5% specificity 71.6%. Conclusion. Almost 20% of two-year-old children have any of clinically manifested allergic diseases, with atopic dermatitis and IgE wheeze/asthma being predominant. The higher total IgE antibodies concentration is a good marker for sensitization in children with allergy-like symptoms.

  14. CLINICAL MANIFESTATION, DIAGNOSTICS AND TREATMENT OF KAWASAKI DISEASE: KNOWN DATA AND UNSOLVED QUESTIONS

    Directory of Open Access Journals (Sweden)

    G. А. Lyskina

    2013-01-01

    Full Text Available The lecture deals with the most common systemic vasculitis in pediatric practice — Kawasaki disease. This disorder is associated with risk of myocardial infarction and sudden cardiac death in children and young adults and at present is considered to be the main cause of the acquired heard diseases in children. The authors give historical aspects and modern opinions on etiology, pathogenesis, clinical manifestation, diagnostics and treatment of Kawasaki disease. The data were summarized from Russian and foreign literature as well as from the own authors’ experience.

  15. Acute hyperkalemia leading to flaccid paralysis: a review of hyperkalemic manifestations

    Directory of Open Access Journals (Sweden)

    Paras Karmacharya

    2015-06-01

    Full Text Available Hyperkalemia can present with a spectrum of clinical manifestations with progressive EKG changes and life-threatening arrhythmias. Although no formal guidelines exist as to when to initiate treatment for hyperkalemia, it is generally recommended in clinically symptomatic patients with or without EKG changes. Timely diagnosis and reversal can relieve symptoms and prevent life-threatening arrhythmias. We review the EKG changes associated with hyperkalemia and management principles along with an example of a case of severe hyperkalemia resulting in arrhythmia and flaccid paralysis.

  16. ENTEROVIRUS INFECTION: VARIETY OF ETIOLOGICAL FACTORS AND CLINICAL MANIFESTATIONS

    Directory of Open Access Journals (Sweden)

    O. I. Kanaeva

    2014-01-01

    Full Text Available Abstract. Enteroviruses are widely distributed human infectious pathogens. In spite of infection a disease does not manifest in majority number of cases. However, in some infected persons the different kind of symptoms can be observed; from common cold signs up to  aseptic (serous meningitis and myocarditis. Severe enteroviral cases with lethal outcomes are rarely reported. Ability of enteroviruses to cause large outbreaks and even epidemic distribution is very significant for health care systems. Taking in account a high genetic diversity of enteroviruses it is possible appearance of new highly pathogenic strains in the future. In some countries including the Russian Federation the permanent surveillance for enteroviral infections is provided besides of WHO polio elimination program. The laboratory diagnostics of enterovirus infections is complicated by numerous of pathogen serotypes. Thus, classical virological methods should be supported by molecular-biological tools to sequence pathogen genome and to define phylogenetic relations between different enterovirus strains.

  17. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    International Nuclear Information System (INIS)

    Kakigi, Ryusuke; Shibasaki, Hiroshi; Tabira, Takeshi; Kuroiwa, Yoshigoro; Numaguchi, Yuji.

    1981-01-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability. (author)

  18. CT abnormality in multiple sclerosis analysis based on 28 probable cases and correlation with clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Kakigi, R.; Shibasaki, H.; Tabira, T.; Kuroiwa, Y. (Kyushu Univ., Fukuoka (Japan). Faculty of Medicine); Numaguchi, Y.

    1981-10-01

    In order to investigate the occurrence and nature of CT abnormality and its correlation with clinical manifestations in multiple sclerosis, 34 CT records obtained from 28 consecutive patients with probable multiple sclerosis were reviewed. Forty-six percent of all cases showed abnormal CT. Dilatation of cortical sulci was found in 39%; dilatation of the lateral ventricle in 36%; dilatation of prepontine or cerebello-pontine cistern and the fourth ventricle, suggesting brainstem atrophy, in 18%; dilatation of cerebellar sulci, superior cerebellar cistern and cisterna magna, suggesting cerebellar atrophy, in 11%. Low density area was found in the cerebral hemisphere in 11% of cases. Contrast enhancement, performed on 25 CT records, did not show any change. There was no correlation between CT abnormality and duration of the illness. Although abnormal CT tended to occur more frequently during exacerbations and chronic stable state than during remissions, the difference was not statistically significant. CT abnormalities suggesting brainstem atrophy, cerebellar atrophy or plaques were found exclusively during exacerbations and chronic stable state. The occurrence of CT abnormalities was not significantly different among various clinical forms which were classified based on clinically estimated sites of lesion, except that abnormal CT tended to occur less frequently in cases classified as the optic-spinal form. It is noteworthy that cerebral cortical atrophy and/or dilatation of the lateral ventricle were found in 31% of cases who did not show any clinical sign of cerebral involvement. There was a statistically significant correlation between CT abnormalities and levels of clinical disability. Eighty percent of the bedridden or severely disabled patients showed abnormal CT, in contrast with only 29% of those with moderate, slight or no disability.

  19. MELAS syndrome: Clinical manifestations, pathogenesis, and treatment options.

    Science.gov (United States)

    El-Hattab, Ayman W; Adesina, Adekunle M; Jones, Jeremy; Scaglia, Fernando

    2015-01-01

    Mitochondrial encephalomyopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is one of the most frequent maternally inherited mitochondrial disorders. MELAS syndrome is a multi-organ disease with broad manifestations including stroke-like episodes, dementia, epilepsy, lactic acidemia, myopathy, recurrent headaches, hearing impairment, diabetes, and short stature. The most common mutation associated with MELAS syndrome is the m.3243A>G mutation in the MT-TL1 gene encoding the mitochondrial tRNA(Leu(UUR)). The m.3243A>G mutation results in impaired mitochondrial translation and protein synthesis including the mitochondrial electron transport chain complex subunits leading to impaired mitochondrial energy production. The inability of dysfunctional mitochondria to generate sufficient energy to meet the needs of various organs results in the multi-organ dysfunction observed in MELAS syndrome. Energy deficiency can also stimulate mitochondrial proliferation in the smooth muscle and endothelial cells of small blood vessels leading to angiopathy and impaired blood perfusion in the microvasculature of several organs. These events will contribute to the complications observed in MELAS syndrome particularly the stroke-like episodes. In addition, nitric oxide deficiency occurs in MELAS syndrome and can contribute to its complications. There is no specific consensus approach for treating MELAS syndrome. Management is largely symptomatic and should involve a multidisciplinary team. Unblinded studies showed that l-arginine therapy improves stroke-like episode symptoms and decreases the frequency and severity of these episodes. Additionally, carnitine and coenzyme Q10 are commonly used in MELAS syndrome without proven efficacy. Copyright © 2015 Elsevier Inc. All rights reserved.

  20. The radiographic manifestations of hypochondroplasia

    International Nuclear Information System (INIS)

    Heselson, N.G.; Cremin, B.J.; Beighton, P.

    1979-01-01

    Hypochrondroplasia is an inherited skeletal dysplasia that resembles achondroplasia in mild degree. Radiographic manifestations encountered in 12 affected individuals in South Africa include slight shortening of all segments of the tubular bones, moderate caudal diminution of the lumbar interpedicular distances, increased lumbar lordosis with cacral tilt and distal prolongation of the fibular. Hypochondroplasia can be distinguished from other osteochondrodystrophies such as achondroplasia, pseudo-achondroplasia and metaphyseal chondroplasia by the recognition of it clinical and radiographic manifestations. (author)

  1. [Pulmonary Manifestations of Vasculitis].

    Science.gov (United States)

    von Vietinghoff, S

    2016-11-01

    The variable symptoms and signs of pulmonary vasculitis are a diagnostic and therapeutic challenge. Vasculitis should be considered in rapidly progressing, severe and unusual manifestations of pulmonary disease. Clinical examination of other organ systems typically affected by vasculitis such as skin and kidney and autoantibody measurements are complementary approaches to manage this situation. Pulmonary involvement is common in small vessel vasculitis including anti-GBM disease (Goodpasture syndrome) and the ANCA-associated vasculitides. Life threatening pulmonary hemorrhage and irreversible damage of other organs, frequently the kidney, are important complications necessitating rapid diagnosis of these conditions.Vasculitides are rare diseases of multiple organs and therapies including biologics are evolving rapidly, requiring cooperation of specialities and with specialized centres to achieve best patient care. All involved physicians should be aware of typical complications of immunosuppressive therapy. © Georg Thieme Verlag KG Stuttgart · New York.

  2. Prevalence and characteristics of articular manifestations in human ...

    African Journals Online (AJOL)

    Prevalence and characteristics of articular manifestations in human immune virus infection. ... Objectives: To determine the prevalence, types and characteristics of articular manifestations in the anti-retroviral treatment naive HIV infected patients. Design: Cross sectional descriptive study. Setting: Comprehensive care clinic ...

  3. Can dentists detect multiple myeloma through oral manifestations?

    Directory of Open Access Journals (Sweden)

    Thaís Miranda Xavier de Almeida

    2018-01-01

    Full Text Available Objective: To review published data on oral manifestations of multiple myeloma. Methods: An electronic database search was performed of articles published from 1971 to November 2016 in order to identify studies that reported oral manifestations of patients with multiple myeloma. Case reports and case series with oral manifestations of multiple myeloma in English were included in the study. An additional search was performed of the references of the selected articles. Results: Thirty-seven articles that reported 81 patients with oral manifestations of multiple myeloma were selected: 30 case reports (82% and seven case series (18%. The most common clinical features in the dental cavity were swelling (65.4%, bone pain (33.3%, paresthesia (27.1% and amyloidosis lesions (11.1%. Osteolytic lesions detected on imaging exams were reported in the majority of the patients (90.1% as plasmacytomas or ‘punched-out’ lesions. Conclusions: Swelling and osteolytic lesions represent the most common clinical and radiographic signs of the jaws relating to multiple myeloma, respectively. Keywords: Multiple Myeloma, Oral Manifestations, Mouth, Jaws

  4. Clinical and Biological Manifestation of RNF168 Deficiency in Two Polish Siblings

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    Barbara Pietrucha

    2017-12-01

    Full Text Available Germline mutations in the RING finger protein gene RNF168 have been identified in a combined immunodeficiency disorder called RIDDLE syndrome. Since only two patients have been described with somewhat different phenotypes, there is need to identify further patients. Here, we report on two Polish siblings with RNF168 deficiency due to homozygosity for a novel frameshift mutation, c.295delG, that was identified through exome sequencing. Both patients presented with immunoglobulin deficiency, telangiectasia, cellular radiosensitivity, and increased alpha-fetoprotein (AFP levels. The younger sibling had a more pronounced neurological and morphological phenotype, and she also carried an ATM gene mutation in the heterozygous state. Immunoblot analyses showed absence of RNF168 protein, whereas ATM levels and function were proficient in lymphoblastoid cells from both patients. Consistent with the absence of RNF168 protein, 53BP1 recruitment to DNA double-strand breaks (DSBs after irradiation was undetectable in lymphoblasts or primary fibroblasts from either of the two patients. γH2AX foci accumulated normally but they disappeared with significant delay, indicating a severe defect in DSB repair. A comparison with the two previously identified patients indicates immunoglobulin deficiency, cellular radiosensitivity, and increased AFP levels as hallmarks of RNF168 deficiency. The variability in its clinical expression despite similar cellular phenotypes suggests that some manifestations of RNF168 deficiency may be modified by additional genetic or epidemiological factors.

  5. Clinical manifestations and treatment outcomes of syphilitic uveitis in HIV-negative patients in China: A retrospective case study.

    Science.gov (United States)

    Zhu, Jiang; Jiang, Yuan; Shi, Yewen; Zheng, Bo; Xu, Zhiguo; Jia, Wei

    2017-10-01

    Syphilitic chorioretinitis should be included in differential diagnosis of any form of ocular inflammation. A significantly higher proportion of human immunodeficiency virus (HIV)-positive patients with ocular syphilis as compared to HIV-negative cases have been reported in published studies. However, the clinical signs and symptoms are more insidious in HIV-negative patients who are easily misdiagnosed. We report a series of cases of ocular syphilis and describe the clinical manifestations and treatment outcomes of syphilitic chorioretinitis in HIV-negative patients in China.This was a retrospective case series study. The clinical records of patients with syphilis chorioretinitis were reviewed. Demographic information and findings of fundus fluorescein angiography (FFA), indocyanine green angiography (ICGA), and spectral domain optical coherence tomography (SD-OCT) were analyzed. All patients received the standard treatment. Ophthalmology examination and laboratory evaluation were repeated every 3 months. All changes were recorded. The treatment was considered successful if the patients had no inflammation in both eyes and rapid plasma reagin titer was negative after therapy.The study examined 41 eyes of 28 HIV-negative patients. The main complaints were blurry vision, floaters, and visual field defect. Twenty-seven eyes presented with panuveitis, and all had posterior involvement, including uveitis, vasculitis, chorioretinitis, and optic neuritis. The most common manifestations were uveitis and retinal vasculitis. Disc hyperfluorescence and persistent dark spots were the most common findings on FFA and ICGA. The ill-defined inner segment/outer segment junction was the most frequent manifestation on SD-OCT. Patients were diagnosed with syphilitic uveitis based on positive serological tests. Best-corrected visual acuity (BCVA) was improved in 34 eyes after treatment. Eleven patients were misdiagnosed before serological tests were performed. The delay in treatment

  6. Is diabetes a risk factor for a severe clinical presentation of dengue?--review and meta-analysis.

    Science.gov (United States)

    Htun, Nan Shwe Nwe; Odermatt, Peter; Eze, Ikenna C; Boillat-Blanco, Noémie; D'Acremont, Valérie; Probst-Hensch, Nicole

    2015-04-01

    The mean age of acute dengue has undergone a shift towards older ages. This fact points towards the relevance of assessing the influence of age-related comorbidities, such as diabetes, on the clinical presentation of dengue episodes. Identification of factors associated with a severe presentation is of high relevance, because timely treatment is the most important intervention to avert complications and death. This review summarizes and evaluates the published evidence on the association between diabetes and the risk of a severe clinical presentation of dengue. A systematic literature review was conducted using the MEDLINE database to access any relevant association between dengue and diabetes. Five case-control studies (4 hospital-based, 1 population-based) compared the prevalence of diabetes (self-reported or abstracted from medical records) of persons with dengue (acute or past; controls) and patients with severe clinical manifestations. All except one study were conducted before 2009 and all studies collected information towards WHO 1997 classification system. The reported odds ratios were formally summarized by random-effects meta-analyses. A diagnosis of diabetes was associated with an increased risk for a severe clinical presentation of dengue (OR 1.75; 95% CI: 1.08-2.84, p = 0.022). Large prospective studies that systematically and objectively obtain relevant signs and symptoms of dengue fever episodes as well as of hyperglycemia in the past, and at the time of dengue diagnosis, are needed to properly address the effect of diabetes on the clinical presentation of an acute dengue fever episode. The currently available epidemiological evidence is very limited and only suggestive. The increasing global prevalence of both dengue and diabetes justifies further studies. At this point, confirmation of dengue infection as early as possible in diabetes patients with fever if living in dengue endemic regions seems justified. The presence of this co-morbidity may

  7. Cutaneous Manifestations of Systemic Lupus Erythematosus

    Science.gov (United States)

    Uva, Luís; Miguel, Diana; Pinheiro, Catarina; Freitas, João Pedro; Marques Gomes, Manuel; Filipe, Paulo

    2012-01-01

    Systemic lupus erythematosus (SLE) is a multiorgan autoimmune disease of unknown etiology with many clinical manifestations. The skin is one of the target organs most variably affected by the disease. The American College of Rheumatology (ACR) established 11 criteria as a classificatory instrument to operationalise the definition of SLE in clinical trials. They were not intended to be used to diagnose individuals and do not do well in that capacity. Cutaneous lesions account for four of these 11 revised criteria of SLE. Skin lesions in patients with lupus may be specific or nonspecific. This paper covers the SLE-specific cutaneous changes: malar rash, discoid rash, photosensitivity, and oral mucosal lesions as well as SLE nonspecific skin manifestations, their pathophysiology, and management. A deeper thorough understanding of the cutaneous manifestations of SLE is essential for diagnosis, prognosis, and efficient management. Thus, dermatologists should cooperate with other specialties to provide optimal care of SLE patient. PMID:22888407

  8. The presentation and evaluation of a case of systemic Lupus erythematosus and anthiphospholipid antibody syndrome with primary clinical manifestation of chorea

    Directory of Open Access Journals (Sweden)

    Asgary S

    1998-06-01

    Full Text Available Manifestation of chorea in patients with systemic lupus erythematosus (SLE and antiphospholipid antibody syndrome (APA synd. is not common. Moreover, primary presentation of the disease with chorea is rare and only few such cases are reported in literature in recent years. We report here the case of a 28 year old woman who was first seen at the age of 10 with clinical manifestations of chorea. Later she developed deep vein thrombosis, thrombocytpenia, stroke, cardiac valve involvement and recurrent abortions. Laboratory investigations confirmed the diagnosis of SLE and the presence of antiphospholipid antibodies. We present this patient as a case of SLE and antiphospholipid antibody syndrome with chorea being her primary clinical presentation

  9. Neurological manifestations of Chikungunya and Zika infections

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    Talys J. Pinheiro

    Full Text Available ABSTRACT The epidemics of Chikungunya virus (CHIKV and Zika virus (ZIKV infections have been considered the most important epidemiological occurrences in the Americas. The clinical picture of CHIKV infection is characterized by high fever, exanthema, myalgia, headaches, and arthralgia. Besides the typical clinical picture of CHIKV, atypical manifestations of neurological complications have been reported: meningo-encephalitis, meningoencephalo-myeloradiculitis, myeloradiculitis, myelitis, myeloneuropathy, Guillain-Barré syndrome and others. The diagnosis is based on clinical, epidemiological, and laboratory criteria. The most common symptoms of ZIKV infection are skin rash (mostly maculopapular, fever, arthralgia, myalgia, headache, and conjunctivitis. Some epidemics that have recently occurred in French Polynesia and Brazil, reported the most severe conditions, with involvement of the nervous system (Guillain-Barré syndrome, transverse myelitis, microcephaly and meningitis. The treatment for ZIKV and CHIKV infections are symptomatic and the management for neurological complications depends on the type of affliction. Intravenous immunoglobulin, plasmapheresis, and corticosteroid pulse therapy are options.

  10. Clinical and hematological manifestations of visceral leishmaniasis in Yemeni children

    Directory of Open Access Journals (Sweden)

    Gamal Abdul Hamid

    2009-03-01

    Full Text Available Objective: In southeast Yemen, visceral leishmaniasis (VL is endemic in Lahj and Abyan and also in Hagga and Sadah, the areas lacking adequate diagnostic facilities. This study describes the clinical and hematological features in 64 cases of childhood VL.Material and Methods: All children below 12 years of age who were managed as inpatient cases from 1 January to 31 December 2005 were included in this study. The diagnosis of VL was established by demonstration of leishmania parasites in bone marrow aspiration. Demographic information, physical signs at presentation and results of complete blood count were recorded and bone marrow aspirations were done for LD bodies. Results: Mean age of the patients was 30 months, and there were 33 females and 31 males. Fever was seen in 100% of children with duration before diagnosis of 56 days. Splenomegaly was present in all cases and hepatomegaly in 84.4%, with mean enlargement of spleen and liver of 9.3 and 3.5 cm, respectively. Mean hemoglobin level, white blood cell and platelet counts were 6.6 g/dl, 3.58x109 /L and 71.7x109 /L, respectively. Absolute neutrophil count was <0.78x109 /L and mean reticulocyte count was 1.7%.Conclusion: Fever, hepatosplenomegaly and pancytopenia were the most common clinical and hematological manifestations in Yemeni children with VL.

  11. A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN PATIENTS OF HEAD INJURY

    Directory of Open Access Journals (Sweden)

    Suhas Shamrao Sarawade

    2017-04-01

    Full Text Available BACKGROUND This study aims to record the prevalence and pattern of various ophthalmic manifestations in patients of head injury and to attempt a correlation between the ocular signs, neurological signs and final outcome. MATERIALS AND METHODS Hundred and twenty patients with head injury having ocular findings, presenting from December 2014 to July 2016, were taken for study. Detailed ophthalmological examination of the patients was carried out and the results of the study are depicted in the form of percentages, graphs and charts. RESULTS The most common cause of head injury found in our study was road traffic accident. The commonest eye finding was oedema and ecchymosis of eyelids. Prime causal factors affecting visual acuity found in our study were corneal tear, globe rupture, optic nerve injury and avulsion of eyeball. CONCLUSION Head injuries with ocular manifestations occur in younger age group. Road traffic accident was the most common cause. Males have to work outside their home for their jobs more than that of females. So they are more prone to accidents. Oedema and ecchymosis of eyelids constitute the most common ocular finding. Patients with mild ocular injuries pointed towards good visual prognosis. Most of them had mild head injury and hence good prognosis in terms of survival of the patient. The patients with severe ocular injuries like corneal tear, globe rupture and optic nerve injury showed poor visual prognosis.

  12. Breast manifestations of systemic diseases

    Directory of Open Access Journals (Sweden)

    Dilaveri CA

    2012-02-01

    Full Text Available Christina A Dilaveri, Maire Brid Mac Bride, Nicole P Sandhu, Lonzetta Neal, Karthik Ghosh, Dietlind L Wahner-RoedlerDivision of General Internal Medicine, Mayo Clinic, Rochester, MN, USAAbstract: Although much emphasis has been placed on the primary presentations of breast cancer, little focus has been placed on how systemic illnesses may affect the breast. In this article, we discuss systemic illnesses that can manifest in the breast. We summarize the clinical features, imaging, histopathology, and treatment recommendations for endocrine, vascular, systemic inflammatory, infectious, and hematologic diseases, as well as for the extramammary malignancies that can present in the breast. Despite the rarity of these manifestations of systemic disease, knowledge of these conditions is critical to the appropriate evaluation and treatment of patients presenting with breast symptoms.Keywords: breast, endocrine, hematologic, infectious, vascular

  13. Tardive Dystonia: Clinical Spectrum and Novel Manifestations

    Directory of Open Access Journals (Sweden)

    R. Jeffrey Davis

    1988-01-01

    Full Text Available Tardive dystonia was identified in 25 patients: involvement of the face and neck was most common; truncal and limb dystonia were also observed. There were 3 cases of laryngospasm and 2 of spasmodic dysphonia. The latter has not been previously reported as a manifestation of tardive dystonia. In all cases, movements typical of classic tardive dyskinesia could be demonstrated. This group illustrates the variety of dystonic disorders that may occur in conjunction with tardive dyskinesia.

  14. Partial Body Weight-Supported Treadmill Training in Patients With Parkinson Disease: Impact on Gait and Clinical Manifestation.

    Science.gov (United States)

    Ganesan, Mohan; Sathyaprabha, Talakad N; Pal, Pramod Kumar; Gupta, Anupam

    2015-09-01

    To evaluate the effect of conventional gait training (CGT) and partial weight-supported treadmill training (PWSTT) on gait and clinical manifestation. Prospective experimental research design. Hospital. Patients with idiopathic Parkinson disease (PD) (N=60; mean age, 58.15±8.7y) on stable dosage of dopaminomimetic drugs were randomly assigned into the 3 following groups (20 patients in each group): (1) nonexercising PD group, (2) CGT group, and (3) PWSTT group. The interventions included in the study were CGT and PWSTT. The sessions of the CGT and PWSTT groups were given in patient's self-reported best on status after regular medications. The interventions were given for 30min/d, 4d/wk, for 4 weeks (16 sessions). Clinical severity was measured by the Unified Parkinson Disease Rating Scale (UPDRS) and its subscores. Gait was measured by 2 minutes of treadmill walking and the 10-m walk test. Outcome measures were evaluated in their best on status at baseline and after the second and fourth weeks. Four weeks of CGT and PWSTT gait training showed significant improvements of UPDRS scores, its subscores, and gait performance measures. Moreover, the effects of PWSTT were significantly better than CGT on most measures. PWSTT is a promising intervention tool to improve the clinical and gait outcome measures in patients with PD. Copyright © 2015 American Congress of Rehabilitation Medicine. Published by Elsevier Inc. All rights reserved.

  15. Revisiting the Molecular Mechanism of Neurological Manifestations in Antiphospholipid Syndrome: Beyond Vascular Damage

    Science.gov (United States)

    Carecchio, M.; Cantello, R.; Comi, C.

    2014-01-01

    Antiphospholipid syndrome (APS) is a multiorgan disease often affecting the central nervous system (CNS). Typically, neurological manifestations of APS include thrombosis of cerebral vessels leading to stroke and requiring prompt initiation of treatment with antiplatelet drugs or anticoagulant therapy. In these cases, alterations of the coagulation system at various levels caused by multiple effects of antiphospholipid antibodies (aPL) have been postulated to explain the vascular damage to the CNS in APS. However, several nonvascular neurological manifestations of APS have progressively emerged over the past years. Nonthrombotic, immune-mediated mechanisms altering physiological basal ganglia function have been recently suggested to play a central role in the pathogenesis of these manifestations that include, among others, movement disorders such as chorea and behavioral and cognitive alterations. Similar clinical manifestations have been described in other autoimmune CNS diseases such as anti-NMDAR and anti-VGCK encephalitis, suggesting that the spectrum of immune-mediated basal ganglia disorders is expanding, possibly sharing some pathophysiological mechanisms. In this review, we will focus on thrombotic and nonthrombotic neurological manifestations of APS with particular attention to immune-mediated actions of aPL on the vascular system and the basal ganglia. PMID:24741580

  16. Musculoskeletal manifestations of the antiphospholipid syndrome.

    Science.gov (United States)

    Noureldine, M H A; Khamashta, M A; Merashli, M; Sabbouh, T; Hughes, G R V; Uthman, I

    2016-04-01

    The scope of clinical and laboratory manifestations of the antiphospholipid syndrome (APS) has increased dramatically since its discovery in 1983, where any organ system can be involved. Musculoskeletal complications are consistently reported in APS patients, not only causing morbidity and mortality, but also affecting their quality of life. We reviewed all English papers on APS involvement in the musculoskeletal system using Google Scholar and Pubmed; all reports are summarized in a table in this review. The spectrum of manifestations includes arthralgia/arthritis, avascular necrosis of bone, bone marrow necrosis, complex regional pain syndrome type-1, muscle infarction, non-traumatic fractures, and osteoporosis. Some of these manifestations were reported in good quality studies, some of which showed an association between aPL-positivity and the occurrence of these manifestations, while others were merely described in case reports. © The Author(s) 2016.

  17. AN ASSOCIATION OF THE CLINICAL MANIFESTATIONS OF NSAID GASTROPATHY WITH UPPER GASTROINTESTINAL MOTOR DISORDERS IN PATIENTS WITH RHEUMATOID ARTHRITIS

    Directory of Open Access Journals (Sweden)

    D Abdulganiyeva

    2011-01-01

    Conclusion. The upper GI motor disorders found in the RA patients taking NSAIDs may play an important role in the development of clinical manifestations of NSAID gastropathy and, probably, a certain group of patients must undergo medical correction of the symptoms related to dysmotility.

  18. Ocular Manifestations of Biopsy-Proven Pulmonary Sarcoidosis in Korea

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    Seung Yong Choi

    2018-01-01

    Full Text Available Purpose. To investigate the clinical features and ocular manifestations of biopsy-proven pulmonary sarcoidosis in Korea. Methods. 55 patients diagnosed with pulmonary sarcoidosis by bronchoscopic or excisional biopsy were included. By retrospective clinical chart review, we investigated features of uveitis, ocular and systemic treatments, visual acuity, angiotensin-converting enzyme level, chest radiography, and pulmonary function tests. Clinical features were analyzed by presence of uveitis, site of biopsy, and first manifested sign of sarcoidosis. Results. The group with uveitis (n=39 presented with higher systemic (71.8% and immunosuppressive treatment rates (35.9% than the group without uveitis (31.3%, 0%, resp. (P=0.007, P=0.005, resp.. There were no significant differences in clinical features, including systemic treatment rate, by type of biopsy. Of 39 patients with uveitis, the group with ocular manifestation as a first sign of sarcoidosis showed higher systemic and immunosuppressive treatment rates (88.9%, 55.6% compared to the group with pulmonary manifestation as a first sign (57.1%, 19.0% (P=0.037, P=0.018, resp.. Conclusions. In patients with biopsy-proven pulmonary sarcoidosis, the presence of ocular involvement and uveitis as a first sign could be significant factors associated with higher systemic treatment rate, especially with immunosuppressive agents. Biopsy site determined by location and size had no influence on clinical features.

  19. Associative link of clinical manifestations of the secondary syphilis of skin and mucosa with histocompatibility antigens Class I

    Directory of Open Access Journals (Sweden)

    S. V. Koshkin

    2017-01-01

    Full Text Available Sixty patients with different clinical symptoms of secondary syphilis (ulcer chancres, pustular syphilis, hypertrophic papules, widespread leukoderma and alopecia were examined in order to study the distribution pattern of histocompatibility antigens of the first class in patients with secondary syphilis of the skin and mucous membranes. As a result of the study, the presence of an associative relationship between the distribution pattern of histocompatibility antigens of the first class and various clinical manifestations in patients with secondary syphilis was established.

  20. Pulmonary manifestations of malaria

    International Nuclear Information System (INIS)

    Rauber, K.; Enkerlin, H.L.; Riemann, H.; Schoeppe, W.; Frankfurt Univ.

    1987-01-01

    We report on the two different types of pulmonary manifestations in acute plasmodium falciparum malaria. The more severe variant shows long standing interstitial pulmonary infiltrates, whereas in the more benign courses only short-term pulmonary edemas are visible. (orig.) [de

  1. Acute sialadenitis in children and adolescents: CT findings and clinical manifestations according to glandular involvement

    International Nuclear Information System (INIS)

    Lee, A. Leum; Kim, Young Tong; Han, Jong Kyu; Jou, Sung Shick; Jung, Du Shin

    2008-01-01

    This study was designed to compare the CT findings and clinical manifestations in children and adolescents with acute sialadenitis according to the involved salivary glands. The study included fifty children and adolescents (34 boys, 16 girls) with acute sialadenitis that was diagnosed during the past five years. All of the subjects were divided into three groups: group I (parotid gland involvement, n = 16), group II (submandibular gland involvement, n = 20) and group III (involvement of both glands, n 14). We analyzed the presence of an abscess, sialolith, bilaterality, cellulitis and lymphadenopathy on CT scans. The analyzed clinical data were age, sex, lymphadenopathy, pain, swelling, presence of a mass, tonsillitis, treatment period and surgical treatment if it was performed. The presence of an abscess, sialolith, cellulitis, swelling, age, presence of a palpable mass and treatment period were statistically significant factors for the patients in the three groups. An abscess was combined only in group I patients. There was a high rate of sialolith in group II patients and cellulitis in group III patients as seen on CT scans. Swelling in group II patients and group III patients and the presence of a palpable mass in group I patients were identified as clinical manifestations. Age was younger in group I patients (mean age, 5.3 years) than in group II patients (mean age, 12.9 years) and group III patients (mean age, 15.2 years). The treatment period was longer for group I patients. For acute sialadenitis in children and adolescents, age, presence of an abscess, sialolith, cellulitis, swelling, presence of a palpable mass and treatment period were different according to the involved salivary glands

  2. [Cutaneous and mucosal manifestations associated with cocaine use].

    Science.gov (United States)

    Imbernón-Moya, Adrián; Chico, Ricardo; Aguilar-Martínez, Antonio

    2016-06-17

    Complications due to cocaine are a public health problem. The typical cutaneous disease is leukocytoclastic vasculitis and/or thrombotic vasculopathy affecting mainly the ears. No intense systemic involvement is usually present, but there may be several cutaneous, mucosal and systemic manifestations. Other findings associated as arthralgia, neutropaenia or agranulocytosis, low titer positive antinuclear antibodies, antiphospholipid antibody positivity and neutrophil cytoplasmic antibodies against multiple antigens help the diagnosis. This disease requires a clinical suspicion with a clinical history, a complete physical examination and a broad differential diagnosis for an early and correct diagnosis. The course is usually self-limited. In most cases the only treatment is to discontinue the use of cocaine associated with symptomatic treatment, no proven benefit of systemic corticosteroids. Copyright © 2016 Elsevier España, S.L.U. All rights reserved.

  3. Significant CD4, CD8, and CD19 lymphopenia in peripheral blood of sarcoidosis patients correlates with severe disease manifestations.

    Science.gov (United States)

    Sweiss, Nadera J; Salloum, Rafah; Gandhi, Seema; Ghandi, Seema; Alegre, Maria-Luisa; Sawaqed, Ray; Badaracco, Maria; Pursell, Kenneth; Pitrak, David; Baughman, Robert P; Moller, David R; Garcia, Joe G N; Niewold, Timothy B

    2010-02-05

    Sarcoidosis is a poorly understood chronic inflammatory condition. Infiltration of affected organs by lymphocytes is characteristic of sarcoidosis, however previous reports suggest that circulating lymphocyte counts are low in some patients with the disease. The goal of this study was to evaluate lymphocyte subsets in peripheral blood in a cohort of sarcoidosis patients to determine the prevalence, severity, and clinical features associated with lymphopenia in major lymphocyte subsets. Lymphocyte subsets in 28 sarcoid patients were analyzed using flow cytometry to determine the percentage of CD4, CD8, and CD19 positive cells. Greater than 50% of patients had abnormally low CD4, CD8, or CD19 counts (p<4x10(-10)). Lymphopenia was profound in some cases, and five of the patients had absolute CD4 counts below 200. CD4, CD8, and CD19 lymphocyte subset counts were significantly correlated (Spearman's rho 0.57, p = 0.0017), and 10 patients had low counts in all three subsets. Patients with severe organ system involvement including neurologic, cardiac, ocular, and advanced pulmonary disease had lower lymphocyte subset counts as a group than those patients with less severe manifestations (CD4 p = 0.0043, CD8 p = 0.026, CD19 p = 0.033). No significant relationships were observed between various medical therapies and lymphocyte counts, and lymphopenia was present in patients who were not receiving any medical therapy. Significant lymphopenia involving CD4, CD8, and CD19 positive cells was common in sarcoidosis patients and correlated with disease severity. Our findings suggest that lymphopenia relates more to disease pathology than medical treatment.

  4. Risk prediction and risk reduction in patients with manifest arterial disease

    NARCIS (Netherlands)

    Goessens, B.M.B.; Goessens, B.M.B.

    2006-01-01

    Risicovoorspelling en risicoverlaging bij patienten met manifest vaatlijden Engelstalig abstract The number of patients with clinical manifest arterial disease is increasing because of the aging of the population. Patients with manifest arterial disease have an increased risk of a new vascular event

  5. The extrahepatic manifestations of hepatitis B virus.

    Science.gov (United States)

    Baig, Saeeda; Alamgir, Mohiuddin

    2008-07-01

    Hepatitis B Virus (HBV) leads to a number of hepatic complications, from acute to chronic hepatitis, cirrhosis and hepatocellular carcinoma, is a well-established fact. Upcoming clinical research, over the years, associates numerous extrahepatic manifestations during the acute and chronic episodes of hepatitis B with significant morbidity and mortality. A causal relationship between HBV and serious autoimmune disorders has also been observed among certain susceptible vaccine recipients in a defined temporal period following immunization. The cause of these extrahepatic manifestations is generally believed to be immune mediated. The most commonly described include skin rash, arthritis, arthralgia, glomerulonephritis, polyarteritis nodosa, and papular acrodermatitis etc. The serum-sickness like "arthritis-dermatitis" prodrome has also been observed in approximately one-third of patients acquiring HBV infections. Skin manifestations of HBV infection typically present as palpable purpura reported to be caused by chronic HBV, although this association remains controversial. To consider the relationship between HBV and other clinically significant disorders as well as serious autoimmune disorders among certain vaccine recipients is the topic of this review. Variable factors that influence extrahepatic manifestation are discussed, including possible synergy between hepatitis B virus and the immune system.

  6. Comparison of clinical features and health manifestations in lean vs. obese Indian women with polycystic ovarian syndrome

    Directory of Open Access Journals (Sweden)

    Abha Majumdar

    2009-01-01

    Full Text Available Aims: To study the prevalence of clinical manifestations in obese and lean polycystic ovarian syndrome (PCOS women and their health hazards. Settings and Design: This prospective study was carried out in a tertiary care infertility clinic from 1.7.2005 till 31.12.2007. Materials and Methods: These women were diagnosed to have PCOS by the European Society of Human Reproduction and Embryology and the American Society of Reproductive Medicine, Rotterdam 2003 criteria. They were further divided into two groups according to their body mass index (BMI: Group A (n = 300, overweight and obese with BMI> 23 and Group B (n = 150, normal weight and lean with BMI ≤23. Stastical Analysis and Results: The prevalence of menstrual irregularities [79.2% vs. 44%, P = 0.000, 95% confidence interval (CI = 0.26-0.44] and clinical hyperandrogenism (74.2% vs. 50.6%, P = 0.000, 95% CI=0.14-0.32 was signifi cantly higher in the obese group, whereas android central obesity (waist to hip ratio> 0.85 was similar in both groups, irrespective of body weight (47.7% vs. 38%, P = 0.056, 95% CI=0.06 to +0.18. Comparative data of various health manifestations in lean vs. obese women with POCS [Table 4]. Of the health risk manifestations, hypertension occurred in both groups with a similar frequency (41% vs. 35.5%, P = 0.261, 95% CI=0.03 to +0.15. Group A showed an increased prevalence of IGT (25% vs. 10%, P = 0.000, 95% CI= 0.13-0.29 and type two diabetes mellitus (11.7% vs. 6%, P = 0.000, 95% CI= 0.13-0.29 as compared with group B. endometrial hyperplasia (EH also showed an increase prevalence in Group A compared with Group B (5.6% vs. 2%, P = 0.055, 95% CI= 0.01-0.08, although not statistically significant. Conclusion: PCOS emerges as a clinically heterogeneous condition with increased prevalence of health risks such as hypertension, diabetes and EH. Of these, diabetes and EH appear to be more prevalent in the obese, putting them at a greater risk of morbid problems at a much

  7. Extrathoracic manifestations of tuberculosis

    International Nuclear Information System (INIS)

    Kienzl-Palma, D.; Prosch, H.

    2016-01-01

    Besides the lungs, tuberculosis (TB) can affect any organ system. In most cases, extrathoracic TB occurs in immunosuppressed patients as part of a severe illness via hematogenous spread. Extrathoracic involvement most commonly involves abdominal organs, especially the urogenital tract and less commonly the central nervous system (CNS) and the musculoskeletal system. Most frequently, computed tomography (CT) is used for detecting extrathoracic TB manifestations, except for CNS and musculoskeletal manifestations, where contrast-enhanced magnetic resonance imaging (MRI) is the gold standard. Extrathoracic manifestations of TB may be indistinguishable from inflammatory or malignant causes. Due to unspecific symptoms the diagnosis is often delayed. This article summarizes and discusses the various radiological manifestations of extrathoracic manifestation of TB. Radiological modalities for screening extrathoracic TB are CT and MRI. Conventional X-radiographs do not play a role in the diagnosis of extrathoracic TB. The possibility of extrathoracic TB should be considered particularly in immunosuppressed patients, such as the homeless, alcoholics or drug addicts or in patients with an immigrant background from the endemic areas of TB. The most likely site of extrathoracic TB is the abdomen; however, infections of the CNS or musculoskeletal systems and multisystem infections can also occur. In patients with suspected extrathoracic TB, radiological modalities for screening are CT, especially for abdominal infections and lymphadenopathy and MRI with contrast media for the musculoskeletal system and the CNS. (orig.) [de

  8. LECTURES ON ACUPUNCTURE—PartⅠ Clinical Acupuncture Lecture Nineteen INSOMNIA

    Institute of Scientific and Technical Information of China (English)

    XuLi; MengHong; WangShaorong; WangWei

    2000-01-01

    Insomnia refers to a disorder in which patient can not have normal or enough sleep. Clinically, it has different manifestations. In mild cases, it is manifested as difficulty in getting to sleep, easy to wake up and unable to sleep againafter waking. In severe cases, it is manifested as sleeplessness during the whole night.

  9. Metabolic profile of clinically severe obese patients.

    Science.gov (United States)

    Faria, Silvia Leite; Faria, Orlando Pereira; Menezes, Caroline Soares; de Gouvêa, Heloisa Rodrigues; de Almeida Cardeal, Mariane

    2012-08-01

    Since low basal metabolic rate (BMR) is a risk factor for weight regain, it is important to measure BMR before bariatric surgery. We aimed to evaluate the BMR among clinically severe obese patients preoperatively. We compared it with that of the control group, with predictive formulas and correlated it with body composition. We used indirect calorimetry (IC) to collect BMR data and multifrequency bioelectrical impedance to collect body composition data. Our sample population consisted of 193 patients of whom 130 were clinically severe obese and 63 were normal/overweight individuals. BMR results were compared with the following predictive formulas: Harris-Benedict (HBE), Bobbioni-Harsch (BH), Cunningham (CUN), Mifflin-St. Jeor (MSJE), and Horie-Waitzberg & Gonzalez (HW & G). This study was approved by the Ethics Committee for Research of the University of Brasilia. Statistical analysis was used to compare and correlate variables. Clinically severe obese patients had higher absolute BMR values and lower adjusted BMR values (p BMR were found in both groups. Among the clinically severe obese patients, the formulas of HW & G and HBE overestimated BMR values (p = 0.0002 and p = 0.0193, respectively), while the BH and CUN underestimated this value; only the MSJE formulas showed similar results to those of IC. The clinically severe obese patients showed low BMR levels when adjusted per kilogram per body weight. Body composition may influence BMR. The use of the MSJE formula may be helpful in those cases where it is impossible to use IC.

  10. Two Thai families with Norrie disease (ND): association of two novel missense mutations with severe ND phenotype, seizures, and a manifesting carrier.

    Science.gov (United States)

    Yamada, K; Limprasert, P; Ratanasukon, M; Tengtrisorn, S; Yingchareonpukdee, J; Vasiknanonte, P; Kitaoka, T; Ghadami, M; Niikawa, N; Kishino, T

    2001-04-15

    We describe two Thai families with Norrie disease (ND) in three generations, including 10 affected males and one manifesting female. All affected males in each family had severely defective eye development with complete loss of vision. In addition, three male patients (one from family 1 and two from family 2) suffered from epilepsy, and one female carrier from one family manifested blindness with phthisis bulbi in her right eye. Mutation analysis of the ND gene (NDP) revealed two different novel missense mutations (L16P and S75P) that co-segregated with ND in each family, suggesting that the newly appearing proline at codon 16 or codon 75 alters the conformation of the ND protein and contributes to the severe phenotype of ND in each family. Other studies suggest that epileptic seizures or growth retardation that is associated with ND is the consequence of loss of contiguous genes, because most such patients had deletions extending beyond the Norrie locus. Our finding that the three affected males in the two families with the missense mutations had epilepsy does not support a contiguous gene effect, but favors the pleiotropism of NDP, at least as far as the epileptic manifestation is concerned. The unilateral blindness in the female carrier may have been due to non-random X-inactivation. Copyright 2001 Wiley-Liss, Inc.

  11. Imaging Manifestations in Systemic Cat Scratch Disease: Case report

    International Nuclear Information System (INIS)

    Forero M, Julian F; Perez A, Maria C; Cerquera C, Fredy M

    2011-01-01

    Cat scratch disease is a zoonosis caused by Bartonella henselae, which is transmitted by scratches, bites or exposition to cats saliva (1). The disease typically manifests with local lymphadenitis after bacterial inoculation in the skin, however, there is an atypical systemic presentation in 5 to 10% of patients, which causes unspecific symptoms. There are several imaging findings that lead the radiologist to consider this diagnosis, in order to prevent an invasive procedure, especially if we consider that the majority of cases occur in the pediatric population (2,3). Although in the majority of cases the symptoms and imaging findings resolve spontaneously, there are specific indications like the systemic form of the disease,which requires antibiotic treatment. In the present article we are exposing a case report from Fundacion Cardioinfantil; we will review some epidemiologic aspects, clinical manifestations, diagnostic methods as well as imaging findings in Ultrasonography, Computed Tomography, Magnetic Resonance and Nuclear Medicine.

  12. Imaging Manifestations in Systemic Cat Scratch Disease: Case report

    International Nuclear Information System (INIS)

    Forero Melo, Julian Francisco; Perez Alvarado, Maria Carolina; Cerquera Cabrera, Fredy Martin

    2011-01-01

    Cat scratch disease is a zoonosis caused by Bartonella henselae, which is transmitted by scratches, bites or exposition to cats saliva (1). The disease typically manifests with local lymphadenitis after bacterial inoculation in the skin, however, there is an atypical systemic presentation in 5 to 10% of patients, which causes unspecific symptoms. There are several imaging findings that lead the radiologist to consider this diagnosis, in order to prevent an invasive procedure, especially if we consider that the majority of cases occur in the pediatric population (2,3). Although in the majority of cases the symptoms and imaging findings resolve spontaneously, there are specific indications like the systemic form of the disease, which requires antibiotic treatment. In the present article we are exposing a case report from Fundacion Cardio infantil; we will review some epidemiologic aspects, clinical manifestations, diagnostic methods as well as imaging findings in Ultrasonography, Computed Tomography, Magnetic Resonance and Nuclear Medicine.

  13. Severe extra-articular manifestations of rheumatoid arthritis in absence of concomitant joint involvement following long-term spontaneous remission. A case report.

    Science.gov (United States)

    Lagrutta, Mariana; Alle, Gelsomina; Parodi, Roberto Leandro; Greca, Alcides Alejandro

    2016-01-01

    Rheumatoid arthritis (RA) is a chronic autoimmune inflammatory disease occasionally associated with severe extra-articular manifestations, mostly in cases of longstanding highly active disease. We report the case of a 56 year-old woman diagnosed with active RA at the age of 40. After 5 years of high activity, her arthritis subsides spontaneously during pregnancy despite the lack of treatment with disease-modifying anti-rheumatic drugs. She remains without articular symptoms for 7 years, and then she develops a Felty's syndrome requiring steroid treatment and splenectomy. Following steroid withdrawal she develops pericarditis with massive serohematic pericardial effusion, still in absence of articular activity, and responds to immunosuppressive therapy and colchicine. We emphasize the unusual spontaneous and sustained joint remission without specific treatment, and the development of severe extra-articular manifestations of RA in absence of concomitant articular activity, as well as the importance of controlling inflammation. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  14. Different manifestation of depressive disorder in the elderly.

    Science.gov (United States)

    Shahpesandy, Homayun

    2005-12-01

    To compare the clinical manifestation of depressive disorder in elderly, and younger adults. To compare the clinical manifestation of depressive disorder, we evaluate 46 elderly (33 female, and 13 male, mean age 71.1) and 60 younger adults (40 female, and 20 male, mean age 44.5 years). All patients suffering from depressive disorders according to ICD-10. For evaluation and comparison of depressive symptomatology we used the HAM-D-17. The results analysed by the SPSS. The clinical manifestation of depression is different in the elderly. Elderly depressed patients compared with their younger counterparts, scored significantly less in Depressed mood, but significantly higher in Work and activities, Retardation, Somatic symptoms-general, Hypochondriasis, Insomnia-middle, Insomnia-late, Anxiety-somatic, and Somatic symptoms-gastrointestinal. On the other hand, younger patients scored significantly higher in Feelings of guilt, and Genital symptoms. Clinical presentation of depressive disorder is different in the elderly, depressed mood is often absent or masked. Anxiety, somatization, and hypochondriasis are more often present in the elderly depressed patients than in younger patients. The elderly people are also more likely than their younger counterparts to complain of insomnia.

  15. Milder clinical manifestation of scrub typhus in Kinmen, Taiwan

    Directory of Open Access Journals (Sweden)

    Tung-Hung Su

    2013-04-01

    Conclusion: A unique summer-autumn type of scrub typhus with milder disease manifestations is identified in Kinmen. The younger patient population, rapid diagnosis, and prompt treatment may be associated with a shortened disease course and lead to a better outcome.

  16. [Diagnostic imaging of high-grade astrocytoma: heterogeneity of clinical manifestation, image characteristics, and histopathological findings].

    Science.gov (United States)

    Okajima, Kaoru; Ohta, Yoshio

    2012-10-01

    Recent developments in diagnostic radiology, which have enabled accurate differential diagnoses of brain tumors, have been well described in the last three decades. MR and PET imaging can also provide information to predict histological grades and prognoses that might influence treatment strategies. However, high-grade astrocytomas consist of many different subtypes that are associated with different imaging and histological characteristics. Hemorrhage and necrosis results in a variety of imaging features, and infiltrative tumor growth entrapping normal neurons may cause different clinical manifestations. We reviewed patients with high-grade astrocytomas that showed various imaging characteristics, with special emphasis on initial symptoms and histological features. Clinicopathological characteristics of astrocytomas were also compared with other malignant tumors. Neurological deficits were not notable in patients with grade 3-4 astrocytomas when they showed infiltrative tumor growth, while brain metastases with compact cellular proliferation caused more neurological symptoms. Infiltrative tumors did not show any enhancing masses on MR imaging, but these tumors may show intratumor heterogeneity. Seizures were reported to be more frequent in low-grade glioma and in secondary glioblastoma. Tumor heterogeneity was also reported in molecular genetic profile, and investigators identified some subsets of astrocytomas. They investigated IHD1/2 mutation, EGFR amplification, TP53 mutation, Ki-67 index, etc. In summary, high-grade astrocytomas are not homogenous groups of tumors, and this is associated with the heterogeneity of clinical manifestation, image characteristics, and histopathological findings. Molecular studies may explain the tumor heterogeneity in the near future.

  17. Chronic polyarthritis as isolated manifestation of toxocariasis.

    Science.gov (United States)

    Viola, Gabriela R; Giacomin, Maria Fernanda A; França, Camila M P; Sallum, Adriana M E; Jacob, Cristina M A; Silva, Clovis A

    2016-01-01

    Human toxocariasis is a parasitic zoonosis mainly caused by Toxocara canis or Toxocara cati and is acquired by ingestion of the parasite's embryonated eggs. Arthralgia and/or arthritis were reported in up to 17% of the cases, generally with acute duration (less than 6 weeks). However, to our knowledge, chronic polyarthritis, as the isolated presentation of Toxocara infection, was not reported. One of the 5809 patients that was followed up at our service (0.017%) had chronic polyarthritis as the single manifestation of toxocariasis and was described herein. A 3-year-old girl was referred to our service with severe painful chronic polyarthritis for a period longer than 10 weeks and morning stiffness of 30min. Dog contact exposure history in the recreational areas of neighborhood was reported. Her exams showed high levels of eosinophils in peripheral blood (29%), bone marrow aspirate revealed marked eosinophilia (32%) and Toxocara enzyme-linked immunosorbent assay (Elisa) was positive (1:1280). She was treated with paracetamol (40mg/kg/day) and thiabendazole (25mg/kg/day) for 10 days, and all manifestations reduced. After eight months of follow-up, she was on clinical and laboratorial remission. In conclusion, we described a case of chronic polyarthritis, as isolated manifestation of toxocariasis, mimicking juvenile idiopathic arthritis and leukemia. Importantly, this zoonosis should be considered in patients with arthritis and eosinophilia. Copyright © 2014 Elsevier Editora Ltda. All rights reserved.

  18. Clinical pattern of systemic sclerosis in Central Ukraine. Association between clinical manifestations of systemic sclerosis and hypertension.

    Science.gov (United States)

    Semenov, Viktor; Kuryata, Olexandr; Lysunets, Tatiana

    2018-01-01

    Systemic sclerosis (SSc) is a rare disease of connective tissue, manifestations of which may vary in different geographical areas. We aimed to describe the clinical portrait of patients with SSc in Dnipropetrovsk region and to investigate how initial clinical and laboratory characteristics are connected with the presence of hypertension in SSc onset. Patients were enrolled to this study from the registry of SSc patients, established in the Rheumatology Department, Mechnikov Dnipropetrovsk Regional Clinic, Dnipro. This registry contains histories of new cases of SSc from 1993 to 2014. Patients are followed-up and receive treatment according to EULAR and local standards. Diagnosis of SSc was based on ACR and EULAR Criteria for systemic Sclerosis. Two patients developed scleroderma renal crisis during follow-up. This report is a cross-sectional study. We analysed only data of the first visit to a rheumatologist. In total 148 patients (median age [IQR] - 47 [40; 52] years) fulfilled the inclusion criteria. Male/female ratio was 1 : 20.1. The most frequent clinical signs were Raynaud's phenomenon and arthritis. The prevalence of skin lesion in dcSSc patients was twice as high as in lcSSc patients. Pulmonary fibrosis occurred significantly more commonly in dcSSc patients. Hypertension occurred in 26-33% in both groups. Patients with hypertension at the SSc onset were seven years older than normotensive patients. More hypertensive patients were classified as lcSSc. Mean GFR was dramatically lower in hypertensive patients. The most common clinical form in our study was diffuse cutaneous subset of SSc. Hypertension in patients with SSc may be associated with local cutaneous subset of SSc and renal impairment. The strongest predictors of clinical form of SSc are signs of fibrosis (skin lesion and pulmonary fibrosis) and inflammation (arthritis and elevated CRP).

  19. Clinical manifestations and management of left ventricular assist device-associated infections.

    Science.gov (United States)

    Nienaber, Juhsien Jodi C; Kusne, Shimon; Riaz, Talha; Walker, Randall C; Baddour, Larry M; Wright, Alan J; Park, Soon J; Vikram, Holenarasipur R; Keating, Michael R; Arabia, Francisco A; Lahr, Brian D; Sohail, M Rizwan

    2013-11-01

    Infection is a serious complication of left ventricular assist device (LVAD) therapy. Published data regarding LVAD-associated infections (LVADIs) are limited by single-center experiences and use of nonstandardized definitions. We retrospectively reviewed 247 patients who underwent continuous-flow LVAD implantation from January 2005 to December 2011 at Mayo Clinic campuses in Minnesota, Arizona, and Florida. LVADIs were defined using the International Society for Heart and Lung Transplantation criteria. We identified 101 episodes of LVADI in 78 patients (32%) from this cohort. Mean age (± standard deviation [SD]) was 57±15 years. The majority (94%) underwent Heartmate II implantation, with 62% LVADs placed as destination therapy. The most common type of LVADIs were driveline infections (47%), followed by bloodstream infections (24% VAD related, and 22% non-VAD related). The most common causative pathogens included gram-positive cocci (45%), predominantly staphylococci, and nosocomial gram-negative bacilli (27%). Almost half (42%) of the patients were managed by chronic suppressive antimicrobial therapy. While 14% of the patients had intraoperative debridement, only 3 underwent complete LVAD removal. The average duration (±SD) of LVAD support was 1.5±1.0 years. At year 2 of follow-up, the cumulative incidence of all-cause mortality was estimated to be 43%. Clinical manifestations of LVADI vary on the basis of the type of infection and the causative pathogen. Mortality remained high despite combined medical and surgical intervention and chronic suppressive antimicrobial therapy. Based on clinical experiences, a management algorithm for LVADI is proposed to assist in the decision-making process.

  20. CT and MR manifestations of acute methyl alcohol toxic encephalopathy

    International Nuclear Information System (INIS)

    Mao Xiaofen; Yang Bo; Ye Gengxin; Zhang Cheng

    2009-01-01

    Objective: To analyze the CT and MR manifestations of methyl alcohol toxic encephalopathy and to improve the diagnosing value of CT and MRI. Methods: 40 patients with methyl alcohol intoxication were collected in this study, in which CT scan was performed on 40 cases and MRI on 4 cases. All CT and MRI radiological data of brain were retrospectively studied. Results: 13 of 40 cases showed abnormal findings on brain CT and MRI. The most common manifestation (6/13, 46%)was hypodensity in frontal parietal white matter and external capsule-putamen on CT, which showed long or short T1 and long T2 on MR. Hemorrhage in right putamen was found only in 1 patient (1/13,7%). CT showed low density inbilateral external capsule in 4 cases (4/13,31%), in which MR showed long or short T1 and long T2. Low density lesions in subcortical white matter of bilateral frontal and parietal lobes, cingulate gyms and insular lobes were found in 2 patients (2/13,15%). The more severe clinic manifestation, the more obvious brain lesion CT and MRI showed. Conclusion: Brain CT and MR manifestations have great diagnostic value of acute methyl alcohol toxic encephalopathy. MRI was more sensitive and better than CT in finding early brain damage caused by methanol intoxication. (authors)

  1. Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia

    Science.gov (United States)

    Tyagi, Pallavi; Tyagi, Vipin; Hashim, Adnan A

    2011-01-01

    Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of this case report is to create awareness in ophthalmic community of its diagnosis and clinical manifestations. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evaluation of affected individuals and carriers and genetic counselling. PMID:22700604

  2. HIV-positive patient with herpes zoster: a manifestation of the immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Lutwak, Nancy; Dill, Curt

    2012-01-01

    Herpes zoster is a common illness that can lead to serious morbidity. There is now evidence that HIV-infected patients who have been treated with antiretroviral therapy are at greater risk of developing herpes zoster not when they are severely immunocompromised but, paradoxically, when their immune system is recovering. This is a manifestation of the immune reconstitution inflammatory syndrome. The objectives of this report are to (1) inform health care providers that HIV-infected patients may develop multiple infectious, autoimmune, and oncological manifestations after treatment with antiretroviral medication, as they have immune system reconstitution, and (2) discuss herpes zoster, one of the possible manifestations. The patient is a 68-year-old HIV-positive man who presented with herpes zoster after being treated with highly active antiretroviral therapy (HAART) when his immune system was recovering, not when he was most immunosuppressed. Emergency department physicians should be aware that HIV-infected patients treated with HAART may have clinical deterioration despite immune system strengthening. This immune reconstitution inflammatory syndrome can present with infectious, autoimmune, or oncological manifestations. Our case patient, an HIV-positive man with immune system recovery after treatment with HAART, presented with an infectious manifestation, herpes zoster.

  3. Clinical characteristics of moderate-to-severe thyroid associated ophthalmopathy in 354 Chinese cases.

    Directory of Open Access Journals (Sweden)

    Qian Li

    Full Text Available Thyroid associated ophthalmopathy (TAO is an autoimmune inflammatory disorder which disfigures appearance, threatens vision, and results in a pronounced loss of quality of life. The diversity and ethnic difference of the disease manifestations have made it difficult to tailor therapies for each patient. Few studies have analyzed its characteristics in Chinese populations. We therefore enrolled 354 patients with moderate-to-severe TAO from February 2015 to July 2016. A single ophthalmologist consistently performed detailed ophthalmic examinations. Orbital computed tomography or magnetic resonance imaging scans were performed to verify enlarged extraocular muscles. Multiple linear regression was used to analyze the association between sex, age, smoking, family history of thyroid diseases, degree of proptosis and disease severity. The mean age of males (46.56±11.08 years was significantly higher than that of females (41.39±years, with a female-to-male ratio of 1.09. The females and males between 31~40 and 41~50 years, respectively, had the highest incidence of TAO. 81.48% of the patients suffered hyperthyroidism. TAO was diagnosed either after (47.17% or simultaneously with thyroid dysfunction (27.68%. Proptosis (91.24%, eyelid retraction (83.33%, together with eyelid swelling (79.38% and extraocular muscle enlargement (75.42%, were the most common clinical sign. 19.77% of patients manifested lower eyelid retraction. The mean values of exophthalmos and asymmetry on proptosis were 19.94±3.45mm and 2.18±2.06mm, respectively in males, 18.58±3.31mm and 1.61±1.53mm, respectively in females. The severity of disease was significantly associated with male, older age, smoking, family history of thyroid diseases and degree of proptosis. We found several differences in Chinese compared with White. The female-to-male ratio and mean value of exophthalmos were significantly lower than the data of White. Inferior and superior rectus became the most common

  4. Health impact of supplying safe drinking water on patients having various clinical manifestations of fluorosis in an endemic village of West Bengal

    Directory of Open Access Journals (Sweden)

    Kunal K Majumdar

    2013-01-01

    Full Text Available Background: Excessive fluoride in drinking water causes dental, skeletal and non-skeletal fluorosis which is encountered in endemic proportions in several parts of the world. The World Health Organization (WHO guideline value and the permissible limit of fluoride as per the Bureau of Indian Standards (BIS is 1.5 mg/L. Studies showed that withdrawal of sources identified for fluoride, often leads to reduction of fluoride in the body fluids (re-testing urine and serum after a week or ten days and results in the disappearance of non-skeletal fluorosis within a short duration of 10-15 days. Objective: To determine the prevalence of signs and symptoms of suspected dental, skeletal and non-skeletal fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among participants taking water with fluoride concentration above permissible limit and to assess the changes in clinical manifestations of the above participants after consumption of safe drinking water with fluoride concentration below permissible limit. Materials and Methods: A longitudinal intervention study was conducted from October 2010 to December 2011 in a village selected randomly in Purulia District of West Bengal which is endemic for fluorosis. Thirty-six families with 104 family members in the above village having history of taking unsafe water containing high level of fluoride were selected for the study. The occurrence of various dental, skeletal and non-skeletal manifestations of fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among the study population was assessed; the impact of taking safe water with fluoride concentration below permissible limit from a supplied community filter on these clinical manifestations was studied by follow-up examination of the above participants for six months. The data obtained is compared with the collected data from the baseline survey. Results: The prevalence of signs and symptoms of

  5. Health impact of supplying safe drinking water on patients having various clinical manifestations of fluorosis in an endemic village of west bengal.

    Science.gov (United States)

    Majumdar, Kunal K; Sundarraj, Shunmuga N

    2013-01-01

    Excessive fluoride in drinking water causes dental, skeletal and non-skeletal fluorosis which is encountered in endemic proportions in several parts of the world. The World Health Organization (WHO) guideline value and the permissible limit of fluoride as per the Bureau of Indian Standards (BIS) is 1.5 mg/L. Studies showed that withdrawal of sources identified for fluoride, often leads to reduction of fluoride in the body fluids (re-testing urine and serum after a week or ten days) and results in the disappearance of non-skeletal fluorosis within a short duration of 10-15 days. To determine the prevalence of signs and symptoms of suspected dental, skeletal and non-skeletal fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among participants taking water with fluoride concentration above permissible limit and to assess the changes in clinical manifestations of the above participants after consumption of safe drinking water with fluoride concentration below permissible limit. A longitudinal intervention study was conducted from October 2010 to December 2011 in a village selected randomly in Purulia District of West Bengal which is endemic for fluorosis. Thirty-six families with 104 family members in the above village having history of taking unsafe water containing high level of fluoride were selected for the study. The occurrence of various dental, skeletal and non-skeletal manifestations of fluorosis along with food habits, addictions and use of fluoride-containing toothpaste among the study population was assessed; the impact of taking safe water with fluoride concentration below permissible limit from a supplied community filter on these clinical manifestations was studied by follow-up examination of the above participants for six months. The data obtained is compared with the collected data from the baseline survey. The prevalence of signs and symptoms of dental, skeletal and non-skeletal fluorosis was (18.26%), (18

  6. Advances in clinical determinants and neurological manifestations of B vitamin deficiency in adults.

    Science.gov (United States)

    Sechi, GianPietro; Sechi, Elia; Fois, Chiara; Kumar, Neeraj

    2016-05-01

    B vitamin deficiency is a leading cause of neurological impairment and disability throughout the world. Multiple B vitamin deficiencies often coexist, and thus an understanding of the complex relationships between the different biochemical pathways regulated in the brain by these vitamins may facilitate prompter diagnosis and improved treatment. Particular populations at risk for multiple B vitamin deficiencies include the elderly, people with alcoholism, patients with heart failure, patients with recent obesity surgery, and vegetarians/vegans. Recently, new clinical settings that predispose individuals to B vitamin deficiency have been highlighted. Moreover, other data indicate a possible pathogenetic role of subclinical chronic B vitamin deficiency in neurodegenerative diseases such as Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. In light of these findings, this review examines the clinical manifestations of B vitamin deficiency and the effect of B vitamin deficiency on the adult nervous system. The interrelationships of multiple B vitamin deficiencies are emphasized, along with the clinical phenotypes related to B vitamin deficiencies. Recent advances in the clinical determinants and diagnostic clues of B vitamin deficiency, as well as the suggested therapies for B vitamin disorders, are described. © The Author(s) 2016. Published by Oxford University Press on behalf of the International Life Sciences Institute. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

  7. Cytogenetic analysis and response to ionizing radiations in a girl with severe muscular dystrophy

    International Nuclear Information System (INIS)

    Meola, G.; Barsi, L.; Velicogna, M.; Scarlato, G.; Fuhrman-Conti, A.M.

    1988-01-01

    Duchenne Muscular Dystrophy (DMD) is a severe X-linked condition characterized by a progressive degeneration of skeletal muscle. Mild clinical symptoms have been reported in female carriers of the DMD gene with normal karyotypes, this occurs in about 8% of DMD carriers. The degree of manifestation ranges from pseudohypertrophy of the calf muscles to moderate myopathy with proximal muscle wasting and weakness. Such manifestations can be explained on the basis of preferential inactivation of the X chromosome bearing the normal allele. The authors describe the cytogenetic analysis and the response to ionizing radiations in a severely affected girl exhibiting clinical, neurophysiological, biochemical, and histological findings of DMD

  8. Chronic severe axonal polyneuropathy associated with hyperthyroidism and multivitamin deficiency.

    Science.gov (United States)

    Sugie, Kazuma; Umehara, Fujio; Kataoka, Hiroshi; Kumazawa, Aya; Ueno, Satoshi

    2012-01-01

    Hyperthyroidism is often associated with various neuromuscular disorders, most commonly proximal myopathy. Peripheral nerve involvement in hyperthyroidism is very uncommon and has rarely been reported. We describe a 29-year-old woman with untreated hyperthyroidism who presented with chronic severe axonal sensory-motor polyneuropathy. Peripheral nerve involvement developed together with other symptoms of hyperthyroidism 2 years before presentation. She also had anorexia nervosa for the past 6 months, resulting in multivitamin deficiency. Electrophysiological and pathological findings as well as clinical manifestations confirmed the diagnosis of severe axonal polyneuropathy. Anorexia nervosa has been considered a manifestation of untreated hyperthyroidism. We considered hyperthyroidism to be an important causal factor in the polyneuropathy in our patient, although peripheral nerve involvement in hyperthyroidism is rare. To our knowledge, this is the first documented case of chronic severe axonal polyneuropathy ascribed to both hyperthyroidism and multivitamin deficiency. Our findings strongly suggest that not only multivitamin deficiency, but also hyperthyroidism can cause axonal polyneuropathy, thus expanding the clinical spectrum of hyperthyroidism.

  9. Pulmonary embolism in intensive care unit: Predictive factors, clinical manifestations and outcome

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    Bahloul Mabrouk

    2010-01-01

    Full Text Available Objective : To determine predictive factors, clinical and demographics characteristics of patients with pulmonary embolism (PE in ICU, and to identify factors associated with poor outcome in the hospital and in the ICU. Methods : During a four-year prospective study, a medical committee of six ICU physicians prospectively examined all available data for each patient in order to classify patients according to the level of clinical suspicion of pulmonary thromboembolism. During the study periods, all patients admitted to our ICU were classified into four groups. The first group includes all patients with confirmed PE; the second group includes some patients without clinical manifestations of PE; the third group includes patients with suspected and not confirmed PE and the fourth group includes all patients with only deep vein thromboses (DVTs without suspicion of PE. The diagnosis of PE was confirmed either by a high-probability ventilation/perfusion (V/Q scan or by a spiral computed tomography (CT scan showing one or more filling defects in the pulmonary artery or in its branches. The diagnosis was also confirmed by echocardiography when a thrombus in the pulmonary artery was observed. Results : During the study periods, 4408 patients were admitted in our ICU. The diagnosis of PE was confirmed in 87 patients (1.9%. The mean delay of development of PE was 7.8 ± 9.5 days. On the day of PE diagnosis, clinical examination showed that 50 patients (57.5% were hypotensive, 63 (72.4% have SIRS, 15 (17.2% have clinical manifestations of DVT and 71 (81.6% have respiratory distress requiring mechanical ventilation. In our study, intravenous unfractionated heparin was used in 81 cases (93.1% and low molecular weight heparins were used in 4 cases (4.6%. The mean ICU stay was 20.2 ± 25.3 days and the mean hospital stay was 25.5 ± 25 days. The mortality rate in ICU was 47.1% and the in-hospital mortality rate was 52.9%. Multivariate analysis showed that

  10. Age at onset in patients with medically refractory temporal lobe epilepsy and mesial temporal sclerosis: impact on clinical manifestations and postsurgical outcome.

    Science.gov (United States)

    Asadi-Pooya, Ali A; Sperling, Michael R

    2015-08-01

    To evaluate the demographic and clinical manifestations and postsurgical outcome of childhood-onset mesial temporal sclerosis and temporal lobe epilepsy (MTS-TLE) and establishing the potential differences as compared to the patients with adult-onset MTS-TLE. In this retrospective study all patients with a clinical diagnosis of medically refractory TLE due to mesial temporal sclerosis, who underwent epilepsy surgery at Jefferson comprehensive epilepsy center, were recruited. Patients were prospectively registered in a database from 1986 through 2014. Postsurgical outcome was classified into two groups; seizure-free or relapsed. Clinical manifestations and outcome were compared between patients with childhood-onset MTS-TLE (i.e., age at onset of the first afebrile habitual seizure below 10 years) and those with adult-onset MTS-TLE (i.e., age at onset of the first afebrile habitual seizure 20 years or above). One hundred and twelve patients had childhood-onset MTS-TLE and 76 had adult-onset MTS-TLE. Demographic, clinical, EEG and MRI characteristics of these two groups were similar. Postoperative outcome was not statistically different between these two groups of patients (P=0.9). Temporal lobe epilepsy due to mesial temporal sclerosis is a common cause of epilepsy that can start from early childhood to late adulthood. The etiology of MTS-TLE may be different in various age groups, but it seems that when mesial temporal sclerosis is the pathological substrate of TLE, clinical manifestations and response to surgical treatment of patients are very similar in patients with childhood-onset MTS-TLE compared to those with adult-onset disease. Copyright © 2015 British Epilepsy Association. Published by Elsevier Ltd. All rights reserved.

  11. Subjective cognitive decline: The first clinical manifestation of Alzheimer's disease?

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    Adalberto Studart Neto

    Full Text Available ABSTRACT Background: Mild cognitive impairment is considered as the first clinical manifestation of Alzheimer's disease (AD, when the individual exhibits below performance on standardized neuropsychological tests. However, some subjects before having a lower performance on cognitive assessments already have a subjective memory complaint. Objective: A review about subjective cognitive decline, the association with AD biomarkers and risk of conversion to dementia. Methods: We performed a comprehensive non-systematic review on PubMed. The keywords used in the search were terms related to subjective cognitive decline. Results: Subjective cognitive decline is characterized by self-experience of deterioration in cognitive performance not detected objectively through formal neuropsychological testing. However, various terms and definitions have been used in the literature and the lack of a widely accepted concept hampers comparison of studies. Epidemiological data have shown that individuals with subjective cognitive decline are at increased risk of progression to AD dementia. In addition, there is evidence that this group has a higher prevalence of positive biomarkers for amyloidosis and neurodegeneration. However, Alzheimer's disease is not the only cause of subjective cognitive decline and various other conditions can be associated with subjective memory complaints, such as psychiatric disorders or normal aging. The features suggestive of a neurodegenerative disorder are: onset of decline within the last five years, age at onset above 60 years, associated concerns about decline and confirmation by an informant. Conclusion: These findings support the idea that subjective cognitive complaints may be an early clinical marker that precedes mild cognitive impairment due to Alzheimer's disease.

  12. Chronic myeloproliferative disorders: A rarest case with oral manifestations and dental management

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    Pritesh B Ruparelia

    2012-01-01

    Full Text Available Chronic myeloproliferative disorders (CMPD are rarest hematological disorders (malignant myeloid neoplasms. The three most common chronic myeloproliferative disorders are polycythemia vera, essential thrombocythemia and chronic idiopathic myelofibrosis. Clinical manifestations (including oral manifestations of these disorders are overlapping with each other and with other hematologic disorders, which makes the diagnosis of CMPD a challenging task. In this article we report a rare to rarest case of CMPD at dental outpatient department, its oral manifestations and its management in dental clinics.

  13. Neurological manifestations of excessive alcohol consumption.

    Science.gov (United States)

    Planas-Ballvé, Anna; Grau-López, Laia; Morillas, Rosa María; Planas, Ramón

    2017-12-01

    This article reviews the different acute and chronic neurological manifestations of excessive alcohol consumption that affect the central or peripheral nervous system. Several mechanisms can be implicated depending on the disorder, ranging from nutritional factors, alcohol-related toxicity, metabolic changes and immune-mediated mechanisms. Recognition and early treatment of these manifestations is essential given their association with high morbidity and significantly increased mortality. Copyright © 2017 Elsevier España, S.L.U., AEEH y AEG. All rights reserved.

  14. [Clinical manifestation and patho-typing of biliary cast syndrome in patients after orthotopic liver transplantation].

    Science.gov (United States)

    Zhu, Xiao-Dan; Shen, Zhong-Yang; Chen, Xin-Guo; Zang, Yun-Jin

    2008-05-15

    To summarize the Patho-typing and the clinical manifestation of biliary cast syndrome (BCS) in patients after orthotopic liver transplantation. The clinical manifestation, findings,therapeutic means and efficacy of 103 patients with biliary cast syndrome after orthotopic liver transplantation were retrospectively analyzed. According to the injury level of biliary duct epithelium, patients were divided into different groups. All cases were followed up for twelve months. The place, degree and time after operation would be recorded when non-anastomotic biliary stricture was found. There were 59 BCS cases in the general hospital of armed police force of China. The incidence rate of BCS was 9.1%. Many BCS patients showed symptoms such as jaundice, deep urine color, gray stools, itch of skin and fever. Some were asymptomatic. In laboratory test, the liver functional enzyme in serum were increased, the total white cell count in peripheral blood was increased either. Cholangiography via T tube of biliary tract might show filling defect. According to the change degree of the biliary tract tree, there were four types filling defect concluded from all the presentation in BCS patients. Solid obturation of biliary tract were found by the check with optical fiber choledochoscope in all BCS patients, necrosis of biliary tract epithelium were observed in partial BCS patients. According to the injury level of biliary duct epithelium (gradually aggravated), BCS patients were divided into six groups (type I, type II, type III, type IV, type V and type VI). Fourteen cases were found in type I and 18 in type II. No clinical symptom was found in these two groups, a few indicators in serum (alanine aminotransferase ALT, total bilirubin TBIL, direct bilirubin DBIL) were in normal range, and others (gamma-glutamyl transferase GGT, alkaline phosphatase ALP) were heightened in 5 patients. There was no biliary cast (BC) found anymore in the period of follow-up in two groups. No stricture was

  15. Corneal manifestations of selected systemic diseases: A review

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    Wayne D.H. Gillan

    2015-08-01

    Full Text Available The corneal manifestations of several selected systemic diseases are reviewed. Metabolic, immunologic and inflammatory and infectious diseases are included. A brief overview of each disease and how it manifests in the cornea is discussed. The importance of conducting a slit-lamp examination on every patient is emphasised.

  16. Clinical and biochemical manifestations of undifferentiated forms of connective tissue dysplasia in pregnant women with varicose veins of small pelvis

    Directory of Open Access Journals (Sweden)

    N.M. Shibelgut

    2010-03-01

    Full Text Available Research objective is to define the pathogenesis of varicous veins of small pelvis in women. at Ultrasonic investigation of venous system of small pelvis has been carried out in 290 pregnant women. It revealed 190 patients with varicose veins of small pelvis (VVSP. By means of V.M. Jakovleva's technique phenotypic menifestation of connective tissue dysplasia was determined in all pregnant women. Biochemical manifestations of connective tissue dysplasia were identified by sialic acid level in blood serum, daily excretion of glycosaminoglycans and oxyproline. High frequency of clinical and biochemical manifestations of undifferentiated forms of connective tissue dysplasia was revealed in pregnant women with VVSP. Patients with VVSP developed tooth and jaw, facial and locomotor damages. Patients with VVSP characterized by visceral undifferentiated forms of connective tissue dysplasia demonstrated by refraction involvement, ventral hernias, flat feet, varicous veins of lower extremities, hypermobile syndrome, mitral valve prolapse of different degree. Biochemical manifestations of undifferentiated forms of connective tissue dysplasia in pregnant women with VVSP were insignificant

  17. [Clinical analysis of three cases with beta-thalassemia].

    Science.gov (United States)

    Li, X Y; Liu, M J; Xu, L H; Xu, H G; Chen, H L; Fang, J P

    2018-04-02

    Objective: To study the diagnostic strategy of β-thalassemia through retrospective analysis of 3 cases of β-thalassemia. Methods: Three patients were admitted to the Department of Pediatrics, Sun Yat-sen Memorial Hospital of Sun Yat-sen University from January 2014 to June 2015. The clinical manifestations, hemoglobin electrophoresis and gene detection of these patients and their parents were analyzed, diagnostic ideas and key points were discussed when beta thalassemia gene detection did not explain clinical manifestations or hemoglobin electrophoresis. Results: Case 1, boy, 5 years old, was diagnosed as compound heterozygotes of β41-42 and IVS-Ⅱ-654 with hereditary persistence of fetal hemoglobin(HPFH) according to the clinical manifestations of mild anemia, normal size of liver and spleen, 92.8% fetal hemoglobin (HbF) and gene analysis. Case 2, girl, 3 years old, was confirmed the diagnosis of thalassemia intermedia with β41-42 heterozygote compound and ααα anti3.7 heterozygote in accordance with the manifestations of severe anemia, hepatosplenomegaly, 8.6% HbF, 4.1% hemoglobin A 2 (HbA 2 ) and gene analysis. Case 3, girl, 3 years old, with severe anemia, hepatosplenomegaly, 51.2% HbF and 3.7% HbA 2 , was diagnosed as thalassemia major with compound heterozygotes of PolyA (T→C) and β17 by DNA sequencing. Conclusion: The diagnosis of β-thalassemia should be confirmed by clinical manifestations of hemolytic anemia, hemoglobin electrophoresis, gene diagnosis and family survey.

  18. [Respiratory manifestations of yellow nail syndrome: report of two cases and literature review].

    Science.gov (United States)

    Li, S; Huang, H; Xu, K; Xu, Z J

    2018-03-12

    Objective: To describe the clinical characteristics of respiratory manifestations of yellow nail syndrome. Methods: We conducted a retrospective analysis of 2 patients with respiratory diseases associated with yellow nail syndrome. Their clinical and chest radiological data were collected. We searched PubMed, Wanfang and CNKI databases with the keywords "yellow nail syndrome, yellow nail and lung" in Chinese and English. And the relevant literatures, including 6 articles in Chinese and 81 articles in English, were reviewed. Results: Our 2 patients were male, one 60 years old and the other 76. Typical yellow nails were present in their fingers, and one of them also showed toe yellow nails. One patient was admitted for refractory respiratory infection and he was diagnosed with diffuse bronchiectasis. The respiratory symptoms could be relieved with antibiotics according to the results of sputum microbiological analysis. The other patient was admitted for cough and exertional dyspnea, and refractory pleural effusions were revealed bilaterally. He received repeated effusion drainage by thoracentesis, and Octreotide was tried recently. A total of 373 cases were reviewed in Chinese and English literatures. Pleural effusions (152 cases) and diffuse bronchiectasis (121 cases) were the most common reported respiratory manifestations. Lymphoedema was present in almost all cases with pleural effusion associated with yellow nail syndrome, and the effusion was usually exudative and lymphocyte predominant. Pleurodesis and decortication were effective for them. But, somatostatin analogues had been tried effectively for these patients recently. On the other hand, literatures showed that diffuse bronchiectasis in yellow nail syndrome was less severe than idiopathic diffuse bronchiectasis, and might benefit from long-term macrolide antibiotics. Conclusions: Yellow nail syndrome is a very rare disorder. Besides yellow nail, respiratory manifestations are the main clinical

  19. Venomous and poisonous arthropods: identification, clinical manifestations of envenomation, and treatments used in human injuries

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    Vidal Haddad Junior

    2015-12-01

    Full Text Available Abstract This review presents the main species of venomous and poisonous arthropods, with commentary on the clinical manifestations provoked by the toxins and therapeutic measures used to treat human envenomations. The groups of arthopods discussed include the class Arachnida (spiders and scorpions, which are responsible for many injuries reported worldwide, including Brazil; the subphylum Myriapoda, with the classes Chilopoda and Diplopoda (centipedes and millipedes; and the subphylum Hexapoda, with the class Insecta and the orders Coleoptera (beetles, Hemiptera (stink bugs, giant water bugs, and cicadas, Hymenoptera (ants, wasps, and bees, and Lepidoptera (butterflies and moths.

  20. Clinical features and computerized tomography in chronic schizophrenia

    International Nuclear Information System (INIS)

    Shimada, Hitoshi; Nagayama, Motowo; Hori, Akira

    1990-01-01

    Computed tomography (CT) scans and clinical manifestations were compared in severe (53) and mild (42) schizophrenic patients. Severe patients were defined as having been hospitalized during the previous 3 years or more, and mild patients as having lived at home. Regarding psychiatric symptoms, behavior, dosage of antipsychotic agents, and admission duration or disease duration, there were significant differences between the severe and mild groups. Both Hasegawa's and Moriya's dementia rating scales were significantly lower in the severe group than the mild group. Cranial CT scans were analyzed for the Sylvian fissure, third ventricle, body of the lateral ventricle, frontal lobe, and parietofrontal cortex. There were significant differences in CT scans for the Sylvian fissure, third ventricle, and body of the lateral ventricle between the severe and mild groups. For the other two sites, no significant differences were observed. The Sylvian fissure was significantly dilatated in the severe group. Dilatation of the Sylvian fissure was well correlated with clinical manifestations, such as language, feeling expression, decreased will, strange behavior, and disease recognition, reflecting clinical severity. (N.K.)

  1. Extrahepatic Manifestations and Autoantibodies in Patients with Hepatitis C Virus Infection

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    Takashi Himoto

    2012-01-01

    Full Text Available Patients with chronic hepatitis C virus (HCV infection frequently have many extrahepatic manifestations, as persistent HCV infection often triggers lymphoproliferative disorders and metabolic abnormalities. These manifestations primarily include autoimmune disorders such as cryoglobulinemia, Sjögren’s syndrome, and autoimmune thyroid disorders. It has been well established that chronic HCV infection plays important roles in the production of non-organ-specific autoantibodies, including antinuclear antibodies and smooth muscle antibodies, and organ-specific autoantibodies such as thyroid autoantibodies. However, the clinical significance of autoantibodies associated with the extrahepatic manifestations caused by HCV infection has not been fully recognized. In this paper, we mainly focus on the relationship between extrahepatic manifestations and the emergence of autoantibodies in patients with HCV infection and discuss the clinical relevance of the autoantibodies in the extrahepatic disorders.

  2. Clinical utility of metabolic syndrome severity scores: considerations for practitioners

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    DeBoer MD

    2017-02-01

    Full Text Available Mark D DeBoer,1,2 Matthew J Gurka2 11Division of Pediatric Endocrinology, Department of Pediatrics, University of Virginia School of Medicine, Charlottesville, VA, 2Department of Health Outcomes and Policy, College of Medicine, University of Florida, Gainesville, FL, USA Abstract: The metabolic syndrome (MetS is marked by abnormalities in central obesity, high blood pressure, high triglycerides, low high-density lipoprotein-cholesterol, and high fasting glucose and appears to be produced by underlying processes of inflammation, oxidative stress, and adipocyte dysfunction. MetS has traditionally been classified based on dichotomous criteria that deny that MetS-related risk likely exists as a spectrum. Continuous MetS scores provide a way to track MetS-related risk over time. We generated MetS severity scores that are sex- and race/ethnicity-specific, acknowledging that the way MetS is manifested may be different by sex and racial/ethnic subgroup. These scores are correlated with long-term risk for type 2 diabetes mellitus and cardiovascular disease. Clinical use of scores like these provide a potential opportunity to identify patients at highest risk, motivate patients toward lifestyle change, and follow treatment progress over time. Keywords: metabolic syndrome, insulin resistance, cardiovascular disease, type 2 diabetes, risk prediction

  3. A Clinico- Epidemiological Study Of Filarial Related Orthopaedic Manifestations

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    Patond K.R

    1992-01-01

    Full Text Available An epidemiological study was undertaken to study the incidence and distribution of orthopaedic manifestations of filariasis in an endemic area. A total of 207 cases were clinically examined and investigated. Patients were divided into three groups , viz., Group A: Orthopaedic manifestations with no history of filariasis . Group B: Orthopaedic manifestations with history of filariasis such as microfilaraemia or filarial fevers etc., Group C: Orthopaedic manifestations with chronic manifestations such as elephantiasis, hydrocele etc. To confirm filarial etiology, all the cases were examined for the presence of filarial antibody by indirect ELISA using wuchereda bancrofti microfilarial excretory- secretary antigen (wd Mf ESAg . A total of 61 of 102 patients of Group A, 14 of 21 patients of group B, and 73 of 84 patients of Group C were positive for filarial antibody. This study showed the prevalence of filarial antibody in about 71.4% of various orthopaedic manifestations.

  4. Case report of Graves’ disease manifesting with odynophagia and heartburn

    Science.gov (United States)

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-01-01

    Graves’ disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves’ disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment. PMID:26730171

  5. Case report of Graves' disease manifesting with odynophagia and heartburn.

    Science.gov (United States)

    Evsyutina, Yulia; Trukhmanov, Alexander; Ivashkin, Vladimir; Storonova, Olga; Godjello, Elina

    2015-12-28

    Graves' disease is an autoimmune disease, which can manifest with a variety of extrathyroidal clinical syndromes like ophthalmopathy, pretibial myxedema (dermopathy), acropathy, cardiomyopathy, and encephalopathy. Though quite rare, this disease can also manifest with gastrointestinal symptoms such as dysphagia, heartburn, nausea, vomiting and diarrhea. We report a clinical case of Graves' disease manifesting with dysfunction of the esophagus and heartburn in a 61-year-old man. In the muscular layer of the esophagus we found dystrophic changes led to its atony, which was documented by endoscopy and high-resolution manometry. The pathology features of esophageal symptoms were: focal proliferation of the basal cells, vascular distension, and dystrophy of the epithelial cells. Antithyroid treatment led to decrease of all clinical symptoms after 5 d of Thiamazole administration. Complete restoration of peristalsis in the esophagus, according to manometry, was observed in 1 mo after initiation of treatment.

  6. Differential Diagnoses of Overgrowth Syndromes: The Most Important Clinical and Radiological Disease Manifestations

    International Nuclear Information System (INIS)

    Lacerda, L.S.; Alves, U.D.; Zanier, J.F.C.; Machado, D.C.; Camilo, G.B.; Machado, D.C.; Camilo, G.B.; Lopes, A.J.

    2014-01-01

    Overgrowth syndromes comprise a heterogeneous group of diseases that are characterized by excessive tissue development. Some of these syndromes may be associated with dysfunction in the receptor tyrosine kinase (RTK)/PI3K/AKT pathway, which results in an increased expression of the insulin receptor. In the current review, four overgrowth syndromes were characterized (Proteus syndrome, Klippel-Trenaunay-Weber syndrome, Made lung’s disease, and neurofibromatosis type I) and illustrated using cases from our institution. Because these syndromes have overlapping clinical manifestations and have no established genetic tests for their diagnosis, radiological methods are important contributors to the diagnosis of many of these syndromes. The correlation of genetic discoveries and molecular pathways that may contribute to the phenotypic expression is also of interest, as this may lead to potential therapeutic interventions

  7. Pulmonary arterial hypertension as a manifestation of lupus erythematosus

    Energy Technology Data Exchange (ETDEWEB)

    Stark, P; Sargent, E N; Boylen, T; Jaramillo, D

    1987-08-01

    We present five patients with systemic lupus erythematosus (SLE) who developed pulmonary arterial hypertension and cor pulmonale in the course of their disease. The clinical features, as well as, the radiological manifestations of this rare manifestation of SLE are discussed. A vasculitic process is the most likely cause of this complication. Therapy is ineffective and the prognosis is poor.

  8. Clinical manifestation of late sequelae and patient disability after breast cancer treatment

    Energy Technology Data Exchange (ETDEWEB)

    Radenkov, K [Okryzhen Onkologichen Djspanser, Shumen (Bulgaria)

    1976-01-01

    Based on medical records from 453 breast cancer patients undergoing complex treatment with follow-up periods of 1 to 12 years at the Shumen Area Oncologic Dispensary, evidence of late effects of therapy was studied in terms of resulting disability. Pre- and post-operative radiotherapy was found to enhance, in a dose-dependent fashion, upper extremity lymphatic stasis following mastectomy. The impact of radiotherapy was further manifested in bone changes, painfulness of shoulder-joint mitions, leukopenia, pneumosclerosis, and a number of neurologic and mental signs. The following invalidity groups were delineated: first group, any III or IV stage patient within the 5-year post-treatment period irrespective of how radical the treatment; second group, any II or I stage patient experiencing severe complication(s); and third group, any I stage patient with only slight physical defects and no concomitant conditions or other complications.

  9. Lack of Correlation between Severity of Clinical Symptoms, Skin Test Reactivity, and Radioallergosorbent Test Results in Venom-Allergic Patients

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    Warrington RJ

    2006-06-01

    Full Text Available Abstract Purpose To retrospectively examine the relation between skin test reactivity, venom-specific immunoglobulin E (IgE antibody levels, and severity of clinical reaction in patients with insect venom allergy. Method Thirty-six patients (including 15 females who presented with a history of allergic reactions to insect stings were assessed. The mean age at the time of the reactions was 33.4 ± 15.1 years (range, 4-76 years, and patients were evaluated 43.6 ± 90 months (range, 1-300 months after the reactions. Clinical reactions were scored according to severity, from 1 (cutaneous manifestations only to 3 (anaphylaxis with shock. These scores were compared to scores for skin test reactivity (0 to 5, indicating the log increase in sensitivity from 1 μg/mL to 0.0001 μg/mL and radioallergosorbent test (RAST levels (0 to 4, indicating venom-specific IgE levels, from undetectable to >17.5 kilounits of antigen per litre [kUA/L]. Results No correlation was found between skin test reactivity (Spearman's coefficient = 0.15, p = .377 or RAST level (Spearman's coefficient = 0.32, p = .061 and the severity of reaction. Skin test and RAST scores both differed significantly from clinical severity (p p = .042. There was no correlation between skin test reactivity and time since reaction (Spearman's coefficient = 0.18, p = .294 nor between RAST and time since reaction (r = 0.1353, p = .438. Elimination of patients tested more than 12 months after their reaction still produced no correlation between skin test reactivity (p = .681 or RAST score (p = .183 and the severity of the clinical reaction. Conclusion In venom-allergic patients (in contrast to reported findings in cases of inhalant IgE-mediated allergy, there appears to be no significant correlation between the degree of skin test reactivity or levels of venom-specific IgE (determined by RAST and the severity of the clinical reaction.

  10. Localized severe scleroderma: a retrospective study of 26 pediatric patients.

    Science.gov (United States)

    Beltramelli, Matilde; Vercellesi, Paolo; Frasin, Adina; Gelmetti, Carlo; Corona, Fabrizia

    2010-01-01

    Juvenile localized scleroderma includes different conditions characterized by skin hardening with increased collagen deposition. Although juvenile localized scleroderma is considered a relatively benign disease, lesions may extend through the dermis, subcutaneous tissue, muscles, and the underlying bone, leading to significant functional and cosmetic deformities. Furthermore, extracutaneous manifestations are described. We retrospectively analyzed a cohort of 26 patients with severe Juvenile localized scleroderma with particular attention to clinical features, therapy, and long-term outcome. A subgroup of three patients has been further evaluated with infrared thermography. Our findings were consistent with the current literature for demographic, laboratory, and clinical characteristics at disease onset, but, with our patients, the prevalence of extracutaneous manifestations was higher, thus confirming the potential for severe juvenile localized scleroderma to affect organs other than the skin, without increased risk of development toward systemic sclerosis. Correlation between various treatments and clinical endpoint showed that systemic therapy lead to a better outcome: in particular, methotrexate appeared the most effective drug, capable in halting the progression of the disease and sometimes inducing its regression. © 2010 Wiley Periodicals, Inc.

  11. Severe Neurological Involvement In Tuberous Sclerosis: A Report Of ...

    African Journals Online (AJOL)

    Tuberous sclerosis (TS) is a genetic disorder characterised by the triad of cutaneous lesions, epilepsy and mental retardation. TS is known to have a wide clinical spectrum, with some affected individuals having only the cutaneous manifestations, normal IQ and no seizures, while others are severely affected having ...

  12. Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.

    Science.gov (United States)

    Carrion, Diego M; Carrion, Andres F

    2012-06-12

    Clinical manifestations of pericardial disease may precede other signs and symptoms associated with systemic lupus erythematosus. Although pericardial effusion is one of the most common cardiac problems in patients with systemic lupus erythematosus, haemodynamically significant effusions manifesting as cardiac tamponade are rare and require prompt diagnosis and treatment.

  13. PRELIMINARY CLINICAL OBSERVATIONS ON THE GINGIVAL-PERIODONTAL MANIFESTATIONS IN IN VITRO FERTILIZED FEMALE PATIENTS

    Directory of Open Access Journals (Sweden)

    Ana GIURA

    2012-06-01

    Full Text Available Scope of the study – determination of the types and intensity of the gingival-periodontal manifestations in in vitro fertilized pregnant women, and establishment of the role played by the hormonal treatment in the initiation and maintenance of such manifestations. Materials and method. The study was performed on patients fertilized in vitro between the years 2010-2012, in the Section of Assisted Human Reproduction of the “Panait Sârbu” Clinical Hospital of Obstretics and Ginecology – Bucuresti. All patients received the same amount and concentration of progesteronic compounds for maintaining their state of pregnancy, being examined in the first gestation weeks, immediately after confirmation of pregnancy through the β-hCG blood test. Results anddiscussion: In the last decades, the effects of estrogen and progesterone have drawn special attention from the part of the researchers. During pregnancy, the gingiva represents the maintissular target for the action of steroid hormones. Pregnancy-induced gingivitis is directly correlated with the presence of the microbial flora, known as the determining factor of the disease, being still exacerbated by the action of the sexual hormones, especially during the second and third quarter of pregnancy. Conclusions: The influence of gestational hormones upon the immune system of the organism may further contribute to the initiation and worsening of pregnancy-induced gingivitis, by reducing the immune response vs. the bacterial plaque.

  14. Analysis of Potential Drug-Drug Interactions and Its Clinical Manifestation of Pediatric Prescription on 2 Pharmacies in Bandung

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    Melisa I. Barliana

    2013-09-01

    Full Text Available The potential of Drug-Drug Interactions (DDI in prescription have high incidence around the world, including Indonesia. However, scientific evidence regarding DDI in Indonesia is not available. Therefore, in this study we have conducted survey in 2 pharmacies in Bandung against pediatric prescription given by pediatrician. These prescriptions then analyzed the potential for DDI contained in the prescription and clinical manifestation. The analysis showed that in pharmacy A, there are 33 prescriptions (from a total of 155 prescriptions that have potential DDI, or approximately 21.19% (2 prescriptions have the potential DDI major categories, 23 prescriptions categorized as moderate, and 8 prescriptions as minor. In Pharmacy B, there are 6 prescriptions (from a total of 40 prescriptions or 15% of potential DDI (4 prescriptions categorized as moderate and 2 prescriptions as minor. This result showed that potential DDI happened less than 50% in pediatric prescription from both pharmacies. However, this should get attention because DDI should not happen in a prescription considering its clinical manifestations caused by DDI. Moreover, current pharmaceutical care refers to patient oriented than product oriented. In addition, further study for the pediatric prescription on DDI incidence in large scale need to be investigated.

  15. Giant cell arteritis. Part I. Terminology, classification, clinical manifestations, diagnosis

    Directory of Open Access Journals (Sweden)

    Azamat Makhmudovich Satybaldyev

    2012-01-01

    Full Text Available Giant cell arteritis (GCA is a vasculitis affecting mainly large and medium-sized arteries, which the classification of systemic vasculitides refers to as those mainly involving the large vessels. GCA is typified by the involvement of extracranial aortic branches and intracranial vessels, the aorta and its large vessels are being affected most frequently. The paper considers the terminology, classification, prevalence, major pathogenic mechanisms, and morphology of GCA. A broad spectrum of its clinical subtypes is due to target vessel stenosis caused by intimal hyperplasia. In 40% of cases, GCA is shown to be accompanied by polymyalgia rheumatica that may either precede or manifest simultaneously with GCA, or follow this disease. The menacing complications of GCA may be visual loss or ischemic strokes at various sites depending on the location of the occluded vessel. Along with the gold standard verification of the diagnosis of GCA, namely temporal artery biopsy, the author indicates other (noninvasive methods for detection of vascular lesions: color Doppler ultrasonography of the temporal arteries, fluorescein angiography of the retina, mag-netic resonance angiography, magnetic resonance imaging, and computed tomography to rule out aortic aneurysm. Dynamic 18F positron emission tomography is demonstrated to play a role in the evaluation of therapeutic effectiveness.

  16. Severe Vaso-occlusive Retinopathy as the Primary Manifestation in a Patient with Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Tsung-Yu Ho

    2008-07-01

    Full Text Available Severe vaso-occlusive retinopathy as the initial manifestation of systemic lupus erythematosus (SLE is rare. We report a 16-year-old female who developed bilateral visual impairment. Fundus examinations showed bilateral “cherry-red spot” appearance, multiple confluent cotton wool spots, and widespread arterial occlusion. Laboratory studies showed leukopenia, antinuclear antibody (+, and anti-double-stranded DNA antibody (+. Malar rashes, oral ulcers, and bilateral knee joint tenderness were noted during physical examination. SLE was diagnosed and pulse therapy started immediately. Best corrected visual acuity of the left eye improved to 6/10 after treatment. However, there was no visual improvement in the right eye. Four months later, bilateral panretinal laser photocoagulation was performed due to retinal neovascularization. However, tractional retinal detachment of the right eye and vitreous hemorrhage of the left eye still occurred. After undergoing cryoretinopexy of the right eye and intravitreous tissue plasminogen activator injection of the left eye, the visual acuity of the patient's right eye remained hand movement only at 10 cm, but that of the left eye returned to 6/10. The ocular and systemic conditions were stable in the follow-up period of more than 2 years. This case demonstrates that in patients with severe vaso-occlusive retinopathy, a generalized immunological disorder, like SLE, should be suspected.

  17. An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

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    Yi Dai

    2017-07-01

    Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

  18. VACCINATION IN CHILDREN WITH DIFFERENT MANIFESTATIONS OF TUBERCULOSIS INFECTION

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    T.S. Drozdenko

    2011-01-01

    Full Text Available The paper presents the experience of childhood immunization with the various manifestations of tuberculosis infection inanimate (ADC-M, Pneumo 23 and live vaccines (domestic divaccine «measles–parotitis», combined vaccine Priorix. The safety and efficacy of vaccination in this group of children with positive clinical and laboratory dynamics of tuberculosis on the background of a specific treatment have been demonstrated, as well as the vaccination tactics of children registered at the TB clinic based on the results of the study have been elaborated.Key words: various manifestations of tuberculosis infection, vaccination tactics, safety, efficiency, children.

  19. Pulmonary arterial hypertension as a manifestation of lupus erythematosus

    International Nuclear Information System (INIS)

    Stark, P.; Jaramillo, D.

    1987-01-01

    We present five patients with systemic lupus erythematosus (SLE) who developed pulmonary arterial hypertension and cor pulmonale in the course of their disease. The clinical features, as well as, the radiological manifestations of this rare manifestation of SLE are discussed. A vasculitic process is the most likely cause of this complication. Therapy is ineffective and the prognosis is poor. (orig.) [de

  20. Articular manifestations in patients with Lyme disease.

    Science.gov (United States)

    Vázquez-López, María Esther; Díez-Morrondo, Carolina; Sánchez-Andrade, Amalia; Pego-Reigosa, Robustiano; Díaz, Pablo; Castro-Gago, Manuel

    To determine the percentage of Lyme patients with articular manifestations in NW Spain and to know their evolution and response to treatment. A retrospective study (2006-2013) was performed using medical histories of confirmed cases of Lyme disease showing articular manifestations. Clinical and laboratory characteristics, together with the treatment and evolution of the patients, were analysed. Seventeen out of 108 LD confirmed patients (15.7%) showed articular manifestations. Regarding those 17 patients, 64.7%, 29.4% and 5.9% presented arthritis, arthralgia and bursitis, respectively. The knee was the most affected joint. Articular manifestations were often associated to neurological, dermatological and cardiac pathologies. Otherwise, most patients were in Stage III. The 11.8% of the cases progressed to a recurrent chronic arthritis despite the administration of an appropriate treatment. Lyme disease patients showing articular manifestations should be included in the diagnosis of articular affections in areas of high risk of hard tick bite, in order to establish a suitable and early treatment and to avoid sequels. Copyright © 2015 Elsevier España, S.L.U. and Sociedad Española de Reumatología y Colegio Mexicano de Reumatología. All rights reserved.

  1. Lipocalin-type prostaglandin D synthase is not a biomarker of atherosclerotic manifestations

    DEFF Research Database (Denmark)

    Hosbond, Susanne E; Diederichsen, Axel C P; Pedersen, Lise

    2014-01-01

    tool in the setting of stable coronary artery disease. We set out to investigate if measurement of concentrations of these biomarkers could be used to differentiate between four groups of individuals with different atherosclerotic manifestations. METHODS: A total of 120 individuals from four equal...... gender- and age-matched groups were studied: (i) no previous cardiovascular disease (CVD) and no coronary calcifications [CAC-negative group], (ii) no previous CVD but evidence of severe coronary calcifications [CAC-positive group], (iii) acute coronary syndrome [ACS-group], and (iv) clinical stable...

  2. Fatal dengue hemorrhagic fever in adults: emphasizing the evolutionary pre-fatal clinical and laboratory manifestations.

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    Ing-Kit Lee

    Full Text Available BACKGROUND: A better description of the clinical and laboratory manifestations of fatal patients with dengue hemorrhagic fever (DHF is important in alerting clinicians of severe dengue and improving management. METHODS AND FINDINGS: Of 309 adults with DHF, 10 fatal patients and 299 survivors (controls were retrospectively analyzed. Regarding causes of fatality, massive gastrointestinal (GI bleeding was found in 4 patients, dengue shock syndrome (DSS alone in 2; DSS/subarachnoid hemorrhage, Klebsiella pneumoniae meningitis/bacteremia, ventilator associated pneumonia, and massive GI bleeding/Enterococcus faecalis bacteremia each in one. Fatal patients were found to have significantly higher frequencies of early altered consciousness (≤24 h after hospitalization, hypothermia, GI bleeding/massive GI bleeding, DSS, concurrent bacteremia with/without shock, pulmonary edema, renal/hepatic failure, and subarachnoid hemorrhage. Among those experienced early altered consciousness, massive GI bleeding alone/with uremia/with E. faecalis bacteremia, and K. pneumoniae meningitis/bacteremia were each found in one patient. Significantly higher proportion of bandemia from initial (arrival laboratory data in fatal patients as compared to controls, and higher proportion of pre-fatal leukocytosis and lower pre-fatal platelet count as compared to initial laboratory data of fatal patients were found. Massive GI bleeding (33.3% and bacteremia (25% were the major causes of pre-fatal leukocytosis in the deceased patients; 33.3% of the patients with pre-fatal profound thrombocytopenia (<20,000/µL, and 50% of the patients with pre-fatal prothrombin time (PT prolongation experienced massive GI bleeding. CONCLUSIONS: Our report highlights causes of fatality other than DSS in patients with severe dengue, and suggested hypothermia, leukocytosis and bandemia may be warning signs of severe dengue. Clinicians should be alert to the potential development of massive GI bleeding

  3. The challenge of establishing treatment efficacy for cutaneous vascular manifestations of systemic sclerosis.

    Science.gov (United States)

    Pauling, John D

    2018-05-01

    The cutaneous vascular manifestations of systemic sclerosis (SSc) comprise Raynaud's phenomenon, cutaneous ulceration, telangiectasia formation and critical digital ischaemia; each of which are associated with significant disease-related morbidity. Despite the availability of multiple classes of vasodilator therapy, many of which have been the subject of RCTs, a limited number of pharmacological interventions are currently approved for the management of cutaneous vascular manifestations of SSc. Areas covered: A major challenge has been demonstrating treatment efficacy with examples of promising therapies yielding contrasting results in controlled trial settings. Differences between consensus best-practice guidelines, evidence-based recommendations and marketing approvals in different jurisdictions has resulted in geographic variation in clinical practice concerning the management of cutaneous vascular manifestations of SSc. Difficulty demonstrating treatment efficacy risks waning industry engagement for drug development programmes in this field. This article highlights the key challenges in establishing treatment efficacy and barriers that must be overcome to support successful clinical trial programmes across the spectrum of cutaneous vascular manifestations of SSc. Expert commentary: The paucity of approved treatments for cutaneous vascular manifestations of SSc relates as much to challenges in clinical trial design and the need for reliable clinical trial endpoints, as to lack of therapeutic options.

  4. Clinical manifestation of late sequelae and patient disability after breast cancer treatment

    International Nuclear Information System (INIS)

    Radenkov, Kh.

    1976-01-01

    Based on medical records from 453 breast cancer patients undergoing complex treatment with follow-up periods of 1 to 12 years at the Shumen Area Oncologic Dispensary, evidence of late effects of therapy was studied in terms of resulting disability. Pre- and post-operative radiotherapy was found to enhance, in a dose-dependent fashion, upper extremity lymphatic stasis following mastectomy. The impact of radiotherapy was further manifested in bone changes, painfulness of shoulder-joint mitions, leukopenia, pneumosclerosis, and a number of neurologic and mental signs. The following invalidity groups were delineated: first group, any III or IV stage patient within the 5-year post-treatment period irrespective of how radical the treatment; second group, any II or I stage patient experiencing severe complication(s); and third group, any I stage patient with only slight physical defects and no concomitant conditions or other complications. (A.B.)

  5. Neurological Manifestations of Dengue Infection

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    Guo-Hong Li

    2017-10-01

    Full Text Available Dengue counts among the most commonly encountered arboviral diseases, representing the fastest spreading tropical illness in the world. It is prevalent in 128 countries, and each year >2.5 billion people are at risk of dengue virus infection worldwide. Neurological signs of dengue infection are increasingly reported. In this review, the main neurological complications of dengue virus infection, such as central nervous system (CNS, peripheral nervous system, and ophthalmic complications were discussed according to clinical features, treatment and possible pathogenesis. In addition, neurological complications in children were assessed due to their atypical clinical features. Finally, dengue infection and Japanese encephalitis were compared for pathogenesis and main clinical manifestations.

  6. Disabling pansclerotic morphea of childhood with extracutaneous manifestations

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    Mahendra M Kura

    2013-01-01

    Full Text Available Disabling pansclerotic morphea (DPM of childhood is a rare generalized type of localized scleroderma (LS that is known to follow an aggressive course with pansclerotic lesions leading to severe joint contractures and consequent immobility. Mortality is due to complications of the disease such as bronchopneumonia, sepsis, or gangrene. There is no specific laboratory finding. Treatment protocols are still evolving for this severe recalcitrant disorder. Extracutaneous manifestations are rarely reported in DPM. We present the case of a 7-year-old girl with DPM with severe extracutaneous manifestations in the form of gastrointestinal and vascular disease, whose disease progressed rapidly. In spite of treatment with methotrexate, corticosteroids, and PUVA therapy, she ultimately succumbed to her illness due to sepsis.

  7. Clinical Manifestations of Cryptosporidiosis and Identification of a New Cryptosporidium Subtype in Patients From Sonora, Mexico.

    Science.gov (United States)

    Urrea-Quezada, Alejandro; González-Díaz, Mariana; Villegas-Gómez, Isaac; Durazo, María; Hernández, Jesús; Xiao, Lihua; Valenzuela, Olivia

    2018-05-01

    The aim of this study was to identify the clinical manifestations of cryptosporidiosis and the distribution of Cryptosporidium spp. and subtypes in children in Sonora, Mexico. Two subtypes of C. parvum, including IIaA15G2R1 and IIcA5G3a, and 6 subtypes of Cryptosporidium hominis, including IaA14R3, IaA15R3, IbA12G3, IdA23, IeA11G3T3, and a new subtype IaA14R11, were identified. Cryptosporidium as an etiologic agent for acute gastroenteritis is discussed.

  8. Neurological manifestations of Batch s disease

    International Nuclear Information System (INIS)

    Borhani-Haghighi, Afshin; Ashjazadeh, Nahid; Nikseresht, Alireza; Shariat, Abdolhamid; Yousefipour, Gholamali; Samangooie, Shahdokht; Safari, Anahid

    2006-01-01

    To determine the prevalence, clinical manifestations, and laboratory features of Neuro-Behcets disease. This prospective study was carried out in the Behcets Research Clinic in Shiraz (south-west Iran) and included the patients referred from 1990-1999. The patients' clinical records, images, CSF analyses, and electrodiagnostic studies were reviewed. Eighteen (15 males and 3 females) out of 690 Behcet s patients (2.6%, 95% CI = 1.4-3.8%) were found to have neurological involvement. The mean +/- standard deviation age of these patients was 34.7 +/- 8.6 years. All fulfilled the criteria of the International Study Group of Behcet s Disease. Central nervous system involvement was more common than peripheral nervous system manifestations. Headache, weakness, tingling, and numbness were the most common symptoms. Hyperreflexia, upward plantar reflex, and somatosensory findings were the most frequent signs. Hemispheral and brainstem stroke-like syndromes and cerebral venous thrombosis were the major neurologic presentations. There were also cases of myelitic, pure meningoencephalitic, amyotrophic lateral sclerosis-like, multiple sclerosis-like, and Guillain Barre syndromes. Neuro-Behcets disease must be considered in the differential diagnosis of stroke in young adults, chronic meningitis, intracranial hypertension, multiple sclerosis, myelopathies, and peripheral neuropathies. (author)

  9. Imaging manifestations and its clinical significance in patients with synovitis acne pustulosis hyperostosis osteomyelitis syndrome

    International Nuclear Information System (INIS)

    Yu Wei; Lin Qiang; Yao Jinpeng; Chang Yinjuan; Zhou Xiaohong

    2012-01-01

    Objective: To describe the clinical and imaging manifestations of patients with synovitis acne pustulosis hyperostosis osteomyelitis (SAPHO) syndrome, and to analyze the diagnostic importance of different clinical and imaging manifestations for SAPHO syndrome. Methods: Seventeen patients (7 males and 10 females) with SAPHO syndrome were recruited in this study. Age ranged from 36 to 67 years with a mean age of (48 ± 8) years. All patients fulfilled the diagnostic criteria of Benhamou. Serum HLA B27 antigen records were reviewed for all patients. Imaging data of the abnormal bone sites were collected by conventional radiograph in all patients, CT in 13 patients as well as MR in 3 patients. Average time to take for a definite diagnosis of the syndrome was 3.7 years (ranged from O.5 to 13 years). Results: Serum HLA B27 antigen was positive in all patients. Both skin and bone abnormalities were found in all patients. Ten patients had skin palmoplantar pustulosis and two patients had acne. Involving sites of bone and joints include sacroiliac joints, anterior chest and limbs. Sacroiliac joints were asymmetrically involved with imaging features in all patients. Eight patients exhibited anterior chest wall involvement. Five patients had osteomyelitis at limbs. For all images of 17 patients, CT was superior to conventional radiography in detecting abnormal changes of bone erosion and soft tissue swelling. MR imaging was able to depict edema changes that was not detectable by CT and radiography. Conclusion: SAPHO syndrome is a rare disease, but for patients with skin and bone-joint abnormalities, especially with skin palmoplantar pustulosis, acne as well as with imaging features at the sacroiliac joint and anterior chest wall, SAPHO syndrome should be taken into a diagnostic consideration. (authors)

  10. Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

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    Sefer Varol

    2015-12-01

    Full Text Available ABSTRACT Objective Facial diplegia (FD is a rare neurological manifestation with diverse causes. This article aims to systematically evaluate the etiology, diagnostic evaluation and treatment of FD. Method The study was performed retrospectively and included 17 patients with a diagnosis of FD. Results Patients were diagnosed with Guillain-Barré syndrome (GBS (11, Bickerstaff’s brainstem encephalitis (1, neurosarcoidosis (1, non-Hodgkin’s Lymphoma (1, tuberculous meningitis (1 herpes simplex reactivation (1 and idiopathic (1. In addition, two patients had developed FD during pregnancy. Conclusion Facial diplegia is an ominous symptom with widely varying causes that requires careful investigation.

  11. Clinical Symptoms and Risk Factors in Cerebral Microangiopathy Patients

    NARCIS (Netherlands)

    Okroglic, S.; Widmann, C.N.; Urbach, H.; Scheltens, P.; Heneka, M.T.

    2013-01-01

    Objective: Although the clinical manifestation and risk factors of cerebral microangiopathy (CM) remain unclear, the number of diagnoses is increasing. Hence, patterns of association among lesion topography and severity, clinical symptoms and demographic and disease risk factors were investigated

  12. MRI manifestations of severe SSPE in infants

    International Nuclear Information System (INIS)

    Liu Hui; Xiao Enhua; Tan Lihua; Wu Xiaochuan; Fan Songqing

    2006-01-01

    Objective: To improve the understanding of MRI findings in severe SSPE. Methods: The MRI features in 2 cases of severe SSPE confirmed by pathology were reported, and related literature was reviewed. Results: In one case, various degrees of asymmetrical cerebral swelling were seen in bilateral gray matter and white matter under the cortex, and without clear dividing line between gray and white matter, especially in temporal lobe. Abnormal signals were revealed on T 1 and T 2 WI. In another case, lesions in the brain stem, temporal lobe, globus pallidus, putamen, thalamus, and radiate coronet showed hypointense signal on T 1 WI and hyperintense signal on T 2 WI with cerebral swelling, and no obviouse cerebral atrophy was found. The local abnormal lesions had occupying effects and enhancement in both cases. Conclusion: Lasting of various degrees of cerebral swelling may be the characteristic sign on MRI in severe SSPE, differing from cerebral atrophy that might be seen in common SSPE. (authors)

  13. CLINICAL AND IMMUNOLOGICAL FEATURES OF KIDNEY TRANSPLANT RECIPIENTS WITH CYTOMEGALOVIRUS INFECTION MANIFESTATION IN THE EARLY POSTOPERATIVE PERIOD

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    L. V. Limareva

    2013-01-01

    Full Text Available Aim. To optimize the management of postoperative renal allograft recipients through the introduction of methods for predicting risk of manifestation of cytomegalovirus infection on the basis of a comprehensive assessment of the clinical and immunological status. Materials and methods. We retrospectively analyzed the medical records of 303 patients with end-stage renal disease, among them – were the recipients of renal allograft – 136, among whom 29 within 2 months after the operation had clinical signs of CMV infection. Assessable "CMV syndrome", laboratory evidence of CMV infection, the incidence of antigens (genes of HLA A, B and DRB *1, calculated goodness of fit χ2 and relative risk RR, changes MCP-1 in urine. Results. In renal allograft recipients with clinical and laboratory evidence of CMV infection in the early postoperative period, significantly more (χ2 > 3,8 met antigen B35. A positive association with CMV infection was detected also for DRB1 * 08, B21, B22, B41, A24 (9, B51 (5, DRB1*14 and DRB1*15. Protective effects possessed antigens / alleles of genes A26 (10, B14, B38 (16 B61 (40 and DRB1*16. MCP-1 levels in this group of recipients were raised to 2174,7 ± 296,3 pg/ml with a strong negative correlation with the levels of urea and creatinine in serum (r = 0,9, p < 0.001. Conclusion. Immunological markers of risk manifestation of CMV infection in recipients of kidneys in the early postoperative period are: the carriage of В35 и В55,56(22, В49(21, В41, DRB1*08 и DRB1*15, an increase of levels of MCP-1 in urine without increasing the levels of urea and creatinine in the serum. 

  14. From Pathogenesis, Clinical Manifestation, and Diagnosis to Treatment: An Overview on Autoimmune Pancreatitis

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    Ou Cai

    2017-01-01

    Full Text Available Autoimmune pancreatitis (AIP is a special type of chronic pancreatitis which is autoimmune mediated. The international consensus diagnostic criteria (ICDC 2011 proposed two types of AIP: type I is associated with histological pattern of lymphoplasmacytic sclerosing pancreatitis (LPSP, characterized by serum IgG4 elevation, whereas type 2 is named idiopathic duct-centric pancreatitis (IDCP, with granulocytic epithelial lesion (GEL and immunoglobulin G4 (IgG4 negative. The pathogenic mechanism is unclear now; based on genetic factors, disease specific or related antigens, innate and adaptive immunity may be involved. The most common clinical manifestations of AIP are obstructive jaundice and upper abdominal pain. The diagnosis can be made by a combination of parenchymal and ductal imaging, serum IgG4 concentrations, pancreatic histology, extrapancreatic disease, and glucocorticoid responsiveness according to ICDC 2011. Because of the clinical and imaging similarities with pancreatic cancer, general work-up should be done carefully to exclude pancreatic malignant tumor before empirical trial of glucocorticoid treatment. Glucocorticoid is the most common drug for AIP to induce remission, while there still exists controversy on steroid maintenance and treatment for relapse. Further studies should be done to identify more specific serum biomarkers for AIP, the pathogenic mechanisms, and the treatment for relapse.

  15. Recent Perspectives on Genome, Transmission, Clinical Manifestation, Diagnosis, Therapeutic Strategies, Vaccine Developments, and Challenges of Zika Virus Research

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    Apoorva Shankar

    2017-09-01

    Full Text Available One of the potential threats to public health microbiology in 21st century is the increased mortality rate caused by Zika virus (ZIKV, a mosquito-borne flavivirus. The severity of ZIKV infection urged World Health Organization (WHO to declare this virus as a global concern. The limited knowledge on the structure, virulent factors, and replication mechanism of the virus posed as hindrance for vaccine development. Several vector and non-vector-borne mode of transmission are observed for spreading the disease. The similarities of the virus with other flaviviruses such as dengue and West Nile virus are worrisome; hence, there is high scope to undertake ZIKV research that probably provide insight for novel therapeutic intervention. Thus, this review focuses on the recent aspect of ZIKV research which includes the outbreak, genome structure, multiplication and propagation of the virus, current animal models, clinical manifestations, available treatment options (probable vaccines and therapeutics, and the recent advancements in computational drug discovery pipelines, challenges and limitation to undertake ZIKV research. The review suggests that the infection due to ZIKV became one of the universal concerns and an interdisciplinary environment of in vitro cellular assays, genomics, proteomics, and computational biology approaches probably contribute insights for screening of novel molecular targets for drug design. The review tried to provide cutting edge knowledge in ZIKV research with future insights required for the development of novel therapeutic remedies to curtail ZIKV infection.

  16. Severe hypertriglyceridemia and colchicine intoxication following suicide attempt

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    Lev S

    2017-11-01

    Full Text Available Shaul Lev,1 David Snyder,2 Carmil Azran,3 Victor Zolotarsky,1 Arik Dahan4 1Intensive Care Unit, Rabin Medical Center, Petah-Tikva, 2Sackler School of Medicine NY/American Program, Tel-Aviv University, Tel Aviv, 3Clinical Pharmacy, Herzliya Medical Center, Herzliya, 4Department of Clinical Pharmacology, School of Pharmacy, Faculty of Health Sciences, Ben-Gurion University of the Negev, Beer-Sheva, Israel Abstract: Colchicine overdose is uncommon but potentially life threatening. Due to its serious adverse systemic effects, overdose must be recognized and treated. We report a case of an 18-year-old female who ingested 18 mg (~0.4 mg/kg of colchicine in a suicide attempt. The patient’s clinical manifestations included abdominal cramps, vomiting, pancytopenia, hypocholesterolemia, and rhabdomyolysis. Two unique manifestations of toxicity in this patient were profound and persistent, severe hypertriglyceridemia and electrolyte imbalance, mainly hypophosphatemia, with no other evident cause except the colchicine intoxication. Following intensive supportive treatment, including ventilator support, N-acetylcysteine, granulocyte colony stimulating factor, electrolyte repletion, and zinc supplementation, the patient made a complete recovery. Colchicine intoxication is a severe, life-threatening situation that should be followed closely in intensive care units. Severe changes in body functions can rapidly develop, as previously described in the literature. To our knowledge, this extremely elevated triglyceride level has never been reported without the administration of propofol, and requires further evaluation. Keywords: colchicine, intoxication, hypophosphatemia, hypertriglyceridemia 

  17. Evaluation of Cutaneous Manifestations According to the Time in Renal Transplant Recipients

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    Burhan Engin

    2013-05-01

    Full Text Available Background and Design: This study is conducted to determine the prevalence and clinical characteristics of cutaneous manifestations in renal transplant patients.Materials and Methods: Hospital records of 116 renal transplant patients were retrospectively investigated. The data obtained from patients who had 6 months follow-up period were evaluated. There were 68 (58.6% males and 48 (41.4% females aged between 10 and 68 years (mean=36.6 years. Detailed dermatologic examination was performed. The patients were grouped according to gender (male-female, posttransplant period (1-5 years, 5-10 years, >10 years and the drugs used (cyclosporin, tacrolimus, other than these two immunosuppressant drugs.Results: The most common cutaneous manifestations were infectious. The dermatological findings were onychomycosis (13, tinea pedis (9, acneiform disorders (15, and warts (9. The clinical evaluation after 6 months has also demonstrated the same result. Among the evaluated patients, 7% showed premalignant or malignant manifestations on clinical examination. According to the results obtained from the patient groups, it was found that gender, length of post-transplant period, and use of immunosuppressant drugs do not influence the clinical manifestations of patients.Conclusion: Dermatologic examinations and long-term follow-up should be performed in renal transplant patients.

  18. Serum Homocysteine Level in Parkinson's Disease and Its Association with Duration, Cardinal Manifestation, and Severity of Disease.

    Science.gov (United States)

    Saadat, Payam; Ahmadi Ahangar, Alijan; Samaei, Seyed Ehsan; Firozjaie, Alireza; Abbaspour, Fatemeh; Khafri, Sorrayya; Khoddami, Azam

    2018-01-01

    Due to the high prevalence of Parkinson's disease (PD) in the elderly, a large financial burden is imposed on the families and health systems of countries in addition to the problems related to the mobility impairment caused by the disease for the patients. Studies on controversial issues in this disease are taken into consideration, and one of these cases is the role of serum homocysteine level in Parkinson's patients. In this study, the serum level of homocysteine and its association with various variables in relation to this disease was compared with healthy individuals. In this study, 100 patients with PD and 100 healthy individuals as control group were investigated. Serum homocysteine level and demographic and clinical data were included in the checklist. Data were analyzed by SPSS version 23. In all tests, the significance level was below 0.05. The mean level of serum homocysteine in case and control groups was 14.93 ± 8.30 and 11.52 ± 2.86  µ mol/L, respectively (95% CI: 1.68; 5.14, P level, while 15 had high serum homocysteine level. In controls, the homocysteine level was 98 and 2, respectively ( P =0.002). In multivariate logistic regression analysis, serum homocysteine level higher than 20  µ mol/L was accompanied by 8.64-fold in Parkinson's disease involvement (95% CI: 1.92; 38.90, P =0.005). Increasing serum homocysteine level elevates the rate to having PD. Serum homocysteine levels did not have any relationship with the duration of the disease, type of cardinal manifestation, and the severity of Parkinson's disease.

  19. Mucocutaneous Manifestations of HIV and the Correlation with WHO Clinical Staging in a Tertiary Hospital in Nigeria

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    Olumayowa Abimbola Oninla

    2014-01-01

    Full Text Available Skin diseases are indicators of HIV/AIDS which correlates with WHO clinical stages. In resource limited environment where CD4 count is not readily available, they can be used in assessing HIV patients. The study aims to determine the mucocutaneous manifestations in HIV positive patients and their correlation with WHO clinical stages. A prospective cross-sectional study of mucocutaneous conditions was done among 215 newly diagnosed HIV patients from June 2008 to May 2012 at adult ART clinic, Wesley Guild Hospital Unit, OAU Teaching Hospitals Complex, Ilesha, Osun State, Nigeria. There were 156 dermatoses with oral/oesophageal/vaginal candidiasis (41.1%, PPE (24.4%, dermatophytic infections (8.9%, and herpes zoster (3.8% as the most common dermatoses. The proportions of dermatoses were 4.5%, 21.8%, 53.2%, and 20.5% in stages 1–4, respectively. A significant relationship (using Pearson’s Chi square with P value <0.05 was obtained between dermatoses and WHO clinical stages. Pearson’s correlation coefficient showed a positive correlation between the number of dermatoses and the WHO clinical stages. Dermatoses can therefore serve as diagnostic and prognostic markers in resource limited settings to initiate HAART in clinical stages 3 and 4.

  20. Factores de riesgo de asma bronquial en niños y su relación con la severidad de las manifestaciones clínicas Risk factors of bronchial asthma in children and its relation to severity of clinical manifestations

    Directory of Open Access Journals (Sweden)

    Tatiana de la Vega Pazitková

    2010-06-01

    Full Text Available Introducción: el asma bronquial es una enfermedad psicosomática que constituye un importante problema de salud mundial. La prevalencia estimada en Cuba es de 8,2 %. La identificación y el control de los factores de riesgo constituyen un pilar importante en el manejo de esta entidad. Objetivos: establecer la relación entre algunos de los factores de riesgo de asma bronquial y la severidad de las manifestaciones clínicas. Métodos: se realizó un estudio descriptivo, de corte transversal, que incluyó la totalidad de los niños menores de 15 años de edad, diagnosticados como asmáticos, pertenecientes a cinco consultorios médicos del policlínico "Ana Betancourt" cuya cifra asciende a 76 pacientes, durante el período de abril de 2007 a marzo de 2008. Resultados: Los niños se agruparon según la clasificación Global Initiative for Asthma 2007 en leve intermitente:15, leve persistente:19, moderado persistente:28 y severos:14. El total de los pacientes estudiados tenía antecedentes familiares de atopia y desencadenaban las crisis de asma con los cambios climáticos. El 95 % fue sensible a inhalantes respiratorios. En el 64 % de los hogares se detectó la presencia de fumadores. Solo el 36 % de los pacientes cumplía parcialmente el tratamiento intercrisis. Conclusiones: existe relación directa entre la severidad de las manifestaciones clínicas del asma bronquial y el número de factores de riesgo que la condicionan.Introduction: bronchial asthma is a psychosomatic disease that is a significant problem of world health. In Cuba its prevalence is of 8.2 %. Its identification and the risk factor control are a very essential base in management of this entity. Objectives: to establish the relation among some risk factors of bronchial asthma and the severity of clinical manifestations. Methods: a cross-sectional and descriptive study was conducted including all children aged under 15, diagnosed with asthma seen in 5 consulting rooms of "Ana

  1. Clinical manifestations of Clostridium difficile infection in a medical center in Taiwan.

    Science.gov (United States)

    Lai, Chih-Cheng; Lin, Sheng-Hsiang; Tan, Che-Kim; Liao, Chun-Hsing; Huang, Yu-Tsung; Hsueh, Po-Ren

    2014-12-01

    To investigate the clinical characteristics of Clostridium difficile infection (CDI) at a medical center in Taiwan. Patients with CDI were identified from medical records at the National Taiwan University Hospital (Taipei, Taiwan). The following information was gathered and analyzed to better understand the clinical manifestations of CDI: age; sex; underlying immunocompromised conditions; laboratory data; in-hospital mortality; and previous use of drugs such as antimicrobial agents, steroids, and antipeptic ulcer agents. During the years 2000-2010, 122 patients were identified as having CDI. This included 92 patients with nontoxigenic CDI (i.e., positive stool culture for C. difficile but negative results for toxins A and B) and 30 patients with toxigenic CDI (i.e., positive stool culture cultures for C. difficile and positive results for toxins A and B). Of the 122 patients, 48 (39%) patients were older than 65 years and most patients acquired the CDI while in the hospital. Active cancer was the most common reason for hospitalization, followed by diabetes mellitus, and end-stage renal disease. More than 90% of the patients had received antibiotics before acquiring CDI. The results of fecal leukocyte examinations were positive in 33 (27%) patients. The overall in-hospital mortality rate was 26.2%. There were no significant differences between patients with nontoxigenic CDI and patients with toxigenic CDI. Clostridium difficile infection can develop in healthcare facilities and in community settings, especially in immunocompromised patients. Copyright © 2013. Published by Elsevier B.V.

  2. Pleural effusion as the initial clinical presentation in disseminated cryptococcosis and fungaemia: an unusual manifestation and a literature review.

    Science.gov (United States)

    Chen, Mayun; Wang, Xiaomi; Yu, Xianjuan; Dai, Caijun; Chen, Dunshun; Yu, Chang; Xu, Xiaomei; Yao, Dan; Yang, Li; Li, Yuping; Wang, Liangxing; Huang, Xiaoying

    2015-09-22

    Cryptococcus neoformans infection usually presents as chronic meningitis and is increasingly being recognized in immunocompromised patients. Presentation with pleural effusion is rare in cryptococcal disease; in fact, only 4 cases of pleural effusion as the initial clinical presentation in cryptococcosis have been reported in English-language literature to date. We report the first case of pleural effusion as the initial clinical presentation in a renal transplant recipient who was initially misdiagnosed with tuberculous pleuritis but who then developed fungaemia and disseminated cryptococcosis. The examination of this rare manifestation and the accompanying literature review will contribute to increased recognition of the disease and a reduction in misdiagnoses. We describe a 63-year-old male renal transplant recipient on an immunosuppressive regimen who was admitted for left pleural effusion and fever. Cytological examinations and pleural fluid culture were nonspecific and negative. Thoracoscopy only found chronic, nonspecific inflammation with fibrosis in the pleura. After empirical anti-tuberculous therapy, the patient developed an elevated temperature, a severe headache and vomiting and fainted in the ward. Cryptococci were specifically found in the cerebrospinal fluid following lumbar puncture. Blood cultures were twice positive for C. neoformans one week later. He was transferred to the respiratory intensive care unit (RICU) immediately and was placed on non-invasive ventilation for respiratory failure for 2 days. He developed meningoencephalitis and fungaemia with C. neoformans during hospitalization. He was given amphotericin B liposome combined with 5-flucytosine and voriconazole for first 11 days, then amphotericin B liposome combined with 5-flucytosine sustained to 8 weeks, after that changed to fluconazole for maintenance. His condition improved after antifungal treatment, non-invasive ventilation and other support. Further pathological consultation

  3. Trichinella infection and clinical disease

    DEFF Research Database (Denmark)

    Clausen, M R; Meyer, C N; Krantz, T

    1996-01-01

    Trichinellosis is caused by ingestion of insufficiently cooked meat contaminated with infective larvae of Trichinella species. The clinical course is highly variable, ranging from no apparent infection to severe and even fatal disease. We report two illustrative cases of trichinellosis. Returning....... Life-threatening cardiopulmonary, renal and central nervous system complications developed. The patient recovered after several months. Her husband, who also ate the pork, did not have clinical symptoms, but an increased eosinophil count and a single larva in a muscle biopsy confirmed infection....... The epidemiology, clinical manifestations, diagnosis, treatment and prevention of trichinellosis are reviewed....

  4. Hotspots in clinical management of severe liver diseases

    Directory of Open Access Journals (Sweden)

    LYU Jiayu

    2017-09-01

    Full Text Available Severe liver diseases such as liver failure and acute decompensated cirrhosis have critical conditions and high mortality rates, and the prognosis of such patients is closely associated with early warning, timely dynamic assessment, and comprehensive and effective therapy. The patients require a series of effective clinical management measures for elimination of causative factors, organ support, and prevention and treatment of complications. Medical treatment-artificial liver-liver transplantation is an important modality for severe liver diseases. Granulocyte colony-stimulating factor, stem cell therapy, and bioartificial liver have a promising future, while there are still controversies over non-selective β-blocker. This article reviews the hotspots in the clinical management of severe liver diseases.

  5. Thoracic manifestation of tuberculosis; Thorakale Manifestation der Tuberkulose

    Energy Technology Data Exchange (ETDEWEB)

    Kienzl-Palma, D.; Prosch, H. [Medizinische Universitaet Wien, Abteilung fuer Allgemeine Radiologie und Kinderradiologie, Universitaetsklinik fuer Radiologie und Nuklearmedizin, Wien (Austria)

    2016-10-15

    Tuberculosis (TB) is a granulomatous disease caused by Mycobacterium tuberculosis and transmission is via an airborne route by droplet infection. In the majority of cases patients have thoracic TB, which most frequently presents with hilar lymphadenopathy and pulmonary manifestation. Due to the rise in incidence of TB in central Europe to be expected over the coming years, it is essential to be acquainted with the radiological manifestations of pulmonary TB, particularly to be able to discriminate active from inactive TB. Due to the use of molecular techniques entailing DNA fingerprinting, the traditional classification of TB in primary and postprimary TB is being challenged. These genetic studies have revealed that variations in the clinical and radiographic appearance of TB are mainly affected by the immune status of the patients. Due to the low prevalence of TB in central Europe and the wide variation of radiological presentations, the diagnosis and therapy of TB is often delayed. In this article, the radiographic manifestations of thoracic TB are summarized and discussed. Together with the medical history and bacteriological tests, chest X-ray imaging and computed tomography (CT) play a major role not only in the detection of TB but also in the follow-up during and after therapy. Chest X-radiographs should be the primary diagnostic method in patients with suspected TB in screening as well as for diagnosis and therapy monitoring. The use of CT is more sensitive than chest radiographs and is frequently performed after chest radiographs to obtain detailed information about subtle parenchymal changes or lymph node manifestation. When active TB is suspected CT should be performed. Tree in bud, lobular consolidations, centrilobular nodules, cavities and ground-glass opacification are typical changes in active TB. (orig.) [German] Tuberkulose (Tbc) ist eine durch Troepfchen uebertragene granulomatoese Infektionserkrankung, die durch das Mycobacterium tuberculosis

  6. Potential biomarkers for the clinical prognosis of severe dengue

    Directory of Open Access Journals (Sweden)

    Mayara Marques Carneiro da Silva

    2013-09-01

    Full Text Available Currently, several assays can confirm acute dengue infection at the point-of-care. However, none of these assays can predict the severity of the disease symptoms. A prognosis test that predicts the likelihood of a dengue patient to develop a severe form of the disease could permit more efficient patient triage and treatment. We hypothesise that mRNA expression of apoptosis and innate immune response-related genes will be differentially regulated during the early stages of dengue and might predict the clinical outcome. Aiming to identify biomarkers for dengue prognosis, we extracted mRNA from the peripheral blood mononuclear cells of mild and severe dengue patients during the febrile stage of the disease to measure the expression levels of selected genes by quantitative polymerase chain reaction. The selected candidate biomarkers were previously identified by our group as differentially expressed in microarray studies. We verified that the mRNA coding for CFD, MAGED1, PSMB9, PRDX4 and FCGR3B were differentially expressed between patients who developed clinical symptoms associated with the mild type of dengue and patients who showed clinical symptoms associated with severe dengue. We suggest that this gene expression panel could putatively serve as biomarkers for the clinical prognosis of dengue haemorrhagic fever.

  7. OPHTHALMIC MANIFESTATIONS OF TAKAYASU ARTERITIS IN SOUTH INDIAN POPULATION

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    Nandhini Arumugam

    2017-06-01

    Full Text Available BACKGROUND Takayasu arteritis is a chronic inflammatory vasculopathy mainly affecting the aorta and its main branches and rarely the pulmonary artery. It usually affects females of the childbearing age group and is more prevalent in the South East Asian countries. 1 Ocular manifestations are not uncommon in cases of Takayasu arteritis. They may be ischaemic ocular manifestations when aorta and its branches are involved and get stenosed or hypertensive retinopathy when renal or suprarenal aorta is involved. 2 Uyama and Asayama broadly classified the ocular manifestations into three types. 3 Type 1 comprised of the ischaemic ocular manifestations of Takayasu arteritis, termed as Takayasu Retinopathy which has been further classified into four stages. Stage one is characterised by the distention of veins, stage two consists of microaneurysm formation, occurrence of arteriovenous anastomoses indicates stage three and complications like retinal ischaemia, neovascularisation, rubeosis iridis and vitreous haemorrhage occurs in stage four. Type two ocular findings have features of mixed retinopathy and type three had retinal manifestations due to hypertension which occurs due to the involvement of the renal and abdominal aorta. Since this disease occurs predominantly in younger individuals it causes severe ocular morbidity in the young if not diagnosed and intervened at an early stage. The aim of this study was to evaluate the clinical spectrum of ocular findings in patients with Takayasu arteritis and to describe the Fundus Fluorescein angiographic characteristics of various retinal findings in patients with Takayasu arteritis. MATERIALS AND METHODS 63 patients who were diagnosed as Takayasu Arteritis who attended our tertiary eye care centre in the time period of November 2014 to march 2017 were included in our study. RESULTS This cross-sectional study consisted of 63 patients. The mean age of the presentation of the study population was 27.8 years

  8. Can Severe Kyphoscoliosis Lead to Aorta Rupture?

    Science.gov (United States)

    Kotopoulos, Constantinos; Karakasi, Maria Valeria; Kapetanakis, Stylianos; Pavlidis, Pavlos

    2016-09-01

    Neurofibromatosis type 1 is a polysystemic disease presenting with a multifaceted clinical picture. Clinical manifestations may present in the skin, as well as in the skeletal and cardiovascular system. The present study aims to describe and examine the case of a 46-year-old woman, who suffered from neurofibromatosis type 1 and died abruptly in the emergency room. The forensic examination attributed her death to traumatic rupture of the thoracic aorta resulting from an acute angulation that her vertebral column formed in the thoracic region (severe kyphosis). Outspread cutaneous neurofibromas, severe scoliosis, and osteoporosis (brittle bones) were observed during the autopsy. No atherosclerotic lesions were detected in the aortic lumen. To the authors' knowledge, no similar case has been reported throughout relevant literature.

  9. Pathology and pathophysiology of pulmonary manifestations in leptospirosis

    Directory of Open Access Journals (Sweden)

    Marisa Dolhnikoff

    Full Text Available Leptospirosis is a re-emerging zoonosis occurring as large outbreaks throughout the world caused by Leptospira interrogans. The incidence of pulmonary involvement in leptospirosis has been reported to be increasing in the last years, affecting up to 70% of the patients. Alveolar hemorrhage presented as dyspnea and hemoptysis is the main pulmonary manifestation. The emergence of massive hemoptysis and acute respiratory distress syndrome has characterized the recent changes reported in the clinical patterns of leptospirosis. The pulmonary involvement has been emerged as a serious life threat, becoming the main cause of death due to leptospirosis in some countries. In this review we present the main clinical and pathological manifestations of pulmonary involvement in leptospirosis, with special focus on recent data concerning the pathophysiological mechanisms underlying lung injury.

  10. Is severity of clinical manifestations following _H. lepturus_ envenomation related to serum TNF-α level?

    OpenAIRE

    Amir A. Jalali; Mohammad H. Pipelzadeh; Mohammad M. Taraz; Ali A. Khodadadi; Manoochr M. Makvandi

    2010-01-01

    Thirty six patients, with varying degrees of severity of envenomation, because of envenomation by _Hemiscorpius lepturus_ scorpion, were systematically investigated. The serum levels (by double-ligand ELIZA kit) of interlukin-1 (IL-1), interlukin-6 (IL-6), interlukin-8 (IL-8) and tumor necrosis factor-α (TNF- α) were compared with 30 healthy controls and 10 age-matched patients envenomed by _Mesobuthus eupeus_ scorpion. Blood samples from _M. eupeus_ and _H. lepturus_ victims were...

  11. Hydrophysical manifestations of the Indian ocean tsunami

    Digital Repository Service at National Institute of Oceanography (India)

    Sadhuram, Y.; Murthy, T.V.R.; Rao, B.P.

    described in detail by several authors. This chapter summarises the results of our investigations on the hydrophysical manifestations (salinity and temperature, coastal currents, internal waves, etc.) of the tsunami on the coastal environments in India...

  12. Congenital rubella syndrome and delayed manifestations

    DEFF Research Database (Denmark)

    Dammeyer, Jesper Herup

    2010-01-01

    Objective: Several hypotheses of different medical and psychological delayed manifestations among people who have congenital rubella syndrome (CRS) have been discussed. This study tests some of these hypotheses of delayed manifestations. Methods: Gathering information about 35 individuals who hav...... which people with CRS face must primarily be understood in relation to congenital deafblindness and dual sensory and communicative deprivation....... CRS and who are congenitally deafblind. Results: None of the hypotheses could be confirmed when individuals with CRS were compared to a control group of individuals who were congenital deafblind with different aetiology than CRS. Conclusions: This study concludes that those health related problems...

  13. Clinical manifestations and outcomes of antithrombotic treatment of the Tan Tock Seng Hospital Singapore antiphospholipid syndrome cohort.

    Science.gov (United States)

    Tan, B E; Thong, B Y H; Shivananda, S; Han, W W; Chng, H H

    2009-07-01

    To examine the clinical manifestations, intensity of oral anticoagulation and outcomes in the prevention of recurrent thromboses in patients with antiphospholipid syndrome (APS) in a tertiary rheumatology centre in Singapore. Retrospective case review of consecutive patients with APS attending a rheumatology clinic from 1st January 2004 to 31st December 2005. There were 59 (44%) patients with definite APS and 75 (56%) with probable APS. Systemic lupus erythematosus (SLE) was the most common cause of secondary APS. Hypertension and hyperlipidaemia were the most common cardiovascular comorbidities. The most common manifestations were haematological (thrombocytopaenia and haemolytic anaemia), neurological (seizure, headache) and pulmonary hypertension. Among those with definite APS, there were similar proportions with arterial and venous thromboses. Recurrent thromboses occurred in 14 (23.7%) patient with definite APS receiving warfarin, comprising 14 (73.7%) episodes of arterial and 5 (26.3%) episodes of venous thromboses. Recurrent arterial thromboses occurred at international normalized ratio (INR) of 3 in 3 (21.4%) episodes, respectively. Recurrent venous thromboses occurred at INR 3 in 1 (20.0%) episode, respectively. Twenty-eight episodes of bleeding occurred in 21 (35.6%) patients, the majority (78.6%) being minor bleeding. Two-thirds of all major bleeds occurred at INR >/= 3. Venous and arterial thromboses were equally common in our patients with definite APS, although recurrent thromboses were more common in the arterial circulation. Target INR > 3 was associated with lower rates of recurrent arterial thromboses but higher rates of major and recurrent bleeding. Target INR >/= 2 appeared to be sufficient to prevent recurrent venous thromboses.

  14. Clinical report of an extremely severe bone marrow form of acute radiation sickness

    International Nuclear Information System (INIS)

    Qiao Jianhui; Yu Changlin; Luo Weidong; Guo Mei; Wang Danhong; Sun Qiyun; Zhang Shi; Zhang Xigang; Li Guang; Niu Wenkai; Chen Jiankui; Li Xiaobing; Ge Feijiao; Ai Huisheng

    2007-01-01

    Objective: To sum up the experiences from the diagnosis and treatment of patient B subjected to an accidental 60 Co exposure on October 21st, 2004, in Jining, Shandong Province, China. Methods: Radiation dose of B was assessed by analysis of chromosome aberration and microneucleus assay, simulation test of the accident site, autopsy and electron spin resonance (ESR). The ultimate clinical diagnosis was based on analysis of irradiation dose, clinical manifestations and laboratory results. In therapeutical aspects, total environmental protection, HLA-identical allogeneic peripheral blood stem cell transplantation (PBSCT), anti- infection and protection managements of organs were given. Results: Patient B was diagnosed as extremely severe bone marrow form of acute radiation sickness (ARS). HLA-identical allogeneic PBSCT was performed on the patient from his brother on the 7th day after the accident. The hematopoietic recovery began on the 9th day after transplantation. The patient acquired permanent full donor' engraftment without graft versus host disease (GVHD), But the radiation injury was continuing and the patient complicated with polyinfection in lung, and cardiac insufficiency. On the 45th day after the accident, patient B was performed with tracheotomy and maintained ventilation with respirator. On the 75th day after the accident, patient B died of multiple organ failure. Conclusions: Early triage diagnosis and total environmental protection should be performed as soon as possible for extremely severe bone marrow form of ARS. It is very important to perform a successful HLA-identical allogeneic PBSCT, in order to extend the life time of the patient. Multiple organ injuries and infections of bacteria and fungi usually occurred on this kind of patients, so intense measures of anti-infection and protection of multiple organs should be taken. The important and difficult point in the treatment of this kind ARS might be for help the immune-reconstruction and tissue

  15. Challenges in Clinical Management of Radiation-Induced Illnesses in Exploration Spaceflight

    Science.gov (United States)

    Blue, Rebecca; Chancellor, Jeffery; Suresh, Rahul; Carnell, Lisa; Reyes, David; Nowadly, Craig; Antonsen, Erik

    2018-01-01

    Historical solar particle events (SPEs) provide context for some understanding of acute radiation exposure risk to astronauts traveling outside of low Earth orbit. Modeling of potential doses delivered to exploration crewmembers anticipates limited radiation-induced health impacts, including prodromal symptoms of nausea, emesis, and fatigue, but suggests that more severe clinical manifestations are unlikely. Recent large animal-model research in space-analogs closely mimicking SPEs has identified coagulopathic events independent of the hematopoietic sequelae of higher radiation doses, similar in manifestation to disseminated intravascular coagulation (DIC). We explored the challenges of clinical management of radiation-related clinical manifestations, using currently accepted modeling techniques and anticipated physiological sequelae, to identify medical capabilities needed to successfully manage SPE-induced radiation illnesses during exploration spaceflight.

  16. Atypical Cutaneous Manifestations in Syphilis.

    Science.gov (United States)

    Ivars Lleó, M; Clavo Escribano, P; Menéndez Prieto, B

    2016-05-01

    Although the diversity of the clinical manifestations of syphilis is well-known, atypical presentations can also occur. Such atypical presentations are associated with a high risk of transmission as a result of diagnostic confusion and treatment delays owing to the disease's ability to mimic other common skin diseases, deviate from classic clinical presentations, and adopt unique forms. Cases of atypical syphilis have been described most frequently in patients with concomitant human immunodeficiency virus (HIV) infection. Because the incidence of syphilis has been growing over recent years -particularly in patients with HIV co-infection- dermatologists need to be familiar with the less well-known clinical presentations of this venereal disease. Copyright © 2015 AEDV. Published by Elsevier España, S.L.U. All rights reserved.

  17. Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

    NARCIS (Netherlands)

    de Visser, M.; Verbeeten, B.

    1985-01-01

    Clinical and computed tomographic (CT) findings in 3 manifesting carriers of Duchenne muscular dystrophy are reported. CT proved to be an important adjunct to the clinical examination: in all our 3 cases a decrease in density was found in various non-paretic muscles

  18. Clinical and Laboratory Features and Extraintestinal Manifestations of Celiac Disease in Adults

    Directory of Open Access Journals (Sweden)

    Mete Akın

    2012-04-01

    Full Text Available Aim: Celiac disease an autoimmune disorder resulting from an immune response to the gluten in genetically predisposed patients. Although, diarrhea is the most common finding at presentation in adults, disease may present with extraintestinal manifestations such as anemia, osteoporosis, elevated transaminase levels and growth retardation. In this article, symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of adult patients with celiac disease were evaluated. Material and Method: 22 patients whose followed with the diagnosis of celiac disease in Suleyman Demirel University Department of Gastroenterology, between January 2007 and Semptember 2010, were evaluated retrospectively. Symptoms, extraintestinal manifestations and coexistence with other autoimmune disorders of patients at presentation were investigated. Results: 13 (59% of all cases were female and 9 (41% were male. Mean age at presentation was 38,5 years. Most common complaints were diarrhea and weakness . Tissue transglutaminase and/or antiendomysium antibody were positive, and diagnosis was confirmed by histopathologic examination in all patients. Iron deficiency, vitamine B12 deficiency and folic acid deficiency were detected in 17 (77%, 8 (36% and 6 (27% patients, respectively. There were elevated transaminase levels in 8 (36% patients. Osteoporosis was detected in 4 female and 1 male patients. Sensorimotor polineuropathy was detected in 2 patients. There was growth retardation in 2 patients. Autoimmune hypothyroidism and Type 1 diabetes mellitus were detected in 2 and 1 patients, respectively. Coexistence with Crohn%u2019s disease was detected in a patient. Discussion: Celiac disease may present with extraintestinal manifestations in adults. It should be remembered, especially in patients with iron deficiency and mild to moderate transaminase elevations with unexplained etiology. It should be considered in patients with chronic diarrhea and

  19. Sacroiliac Pain: A Clinical Approach for the Neurosurgeon

    Science.gov (United States)

    Moscote-Salazar, Luis Rafael; Alvis-Miranda, Hernando Raphael; Joaquim, Andrei Fernandes; Amaya-Quintero, Jessica; Padilla-Zambrano, Huber S.; Agrawal, Amit

    2017-01-01

    Pain originating from sacroiliac joint may also cause pain in the lumbar and gluteal region in 15% of the population. The clinical manifestation represents a public health problem due to the great implications on the quality of life and health-related costs. However, this is a diagnosis that is usually ignored in the general clinical practice; probably because of the unknown etiology, making harder to rule out the potential etiologies of this pathology, or maybe because the clinical criteria that support this pathology are unknown. By describing several diagnostic techniques, many authors have studied the prevalence of this pathology, finding more positive data than expected; coming to the conclusion that even though there is no diagnostic gold standard yet, an important amount of cases might be detected by properly applying several tests at the physical examination. Thus, it is necessary to have knowledge of the physiopathology and clinical presentation so that diagnosis can be made to those patients that manifest this problem. We present a clinical approach for the neurosurgeon. PMID:29204025

  20. Sacroiliac pain: A clinical approach for the neurosurgeon

    Directory of Open Access Journals (Sweden)

    Luis Rafael Moscote-Salazar

    2017-01-01

    Full Text Available Pain originating from sacroiliac joint may also cause pain in the lumbar and gluteal region in 15% of the population. The clinical manifestation represents a public health problem due to the great implications on the quality of life and health-related costs. However, this is a diagnosis that is usually ignored in the general clinical practice; probably because of the unknown etiology, making harder to rule out the potential etiologies of this pathology, or maybe because the clinical criteria that support this pathology are unknown. By describing several diagnostic techniques, many authors have studied the prevalence of this pathology, finding more positive data than expected; coming to the conclusion that even though there is no diagnostic gold standard yet, an important amount of cases might be detected by properly applying several tests at the physical examination. Thus, it is necessary to have knowledge of the physiopathology and clinical presentation so that diagnosis can be made to those patients that manifest this problem. We present a clinical approach for the neurosurgeon.

  1. The presence of some humoral immunologic indicators and clinical manifestations in cryoglobulin positive heroin addicts without evidence of hepatitis virus infection

    Directory of Open Access Journals (Sweden)

    Simonovska Natasha

    2015-01-01

    Full Text Available Introduction. Cryoglobulins are single or mixed immunoglobulins that are subject to reversible precipitation at low temperatures. Objective. The aims of this paper were: 1. Comparison of cryoglobulin positive (CP, cryoglobulin negative (CN heroin addicts and the control group (CG in terms of serum immunoglobulins IgG, IgA and IgM and complement components C3 and C4; 2. Comparison of CP and CN heroin addicts in terms of rheumatoid factor (RF and circulating immune complexes (CIC; 3. Assessment of clinical manifestations in CP heroin addicts. Methods. This is a comparative study of cases (outpatients treated at the University Clinic of Toxicology in Skopje over 3.5 years, from January 2009 to June 2012. In this study 140 heroin addicts without HbsAg were examined, seronegative for HCV and HIV infections. They were divided into 2 groups: 70 CP and 70 CN heroin addicts. A previously designed self-administered questionnaire was used as a data source on participants. All heroin addicts underwent the following analyses: urea and creatinine in serum; creatinine in urine; proteinuria; 24-hour proteinuria; IgM, IgG, IgA, C3, C4 ; RF; CIC; creatinine clearance; ECG; toxicological analyses for opioids in a urine sample; cryoglobulins. In addition to these 2 groups, IgG, IgA, IgM, C3 and C4 were also examined in 70 healthy subjects (CG. Results. The study showed that there was no statistically significant difference between CP, CN heroin addicts and CG regarding the concentration of IgA, IgG, IgM, C3 and C4, and between CP and CN regarding the concentration of CIC. There was significant difference between CP and CN regarding the concentration of RF. The following conditions were significantly more frequently manifested in CP than in CN heroin addicts: arthralgia, Raynaud’s phenomenon, respiratory difficulties, neurological disorders, manifested skin changes, hematuria, 24-hour proteinuria levels, and decreased renal clearance. Conclusion. There were no

  2. COACH CV: The Seven Clinical Phenotypes of Concussion

    Directory of Open Access Journals (Sweden)

    Neil Craton

    2017-09-01

    Full Text Available Our understanding of the diverse physiological manifestations of concussion is changing rapidly. This has an influence on the clinical assessment of patients who have sustained a concussion. The 2017 Consensus Statement on Concussion in Sport states that numerous post-injury clinical findings, such as cognitive deficits, post-traumatic headaches, dizziness, difficulties with oculomotor function, and depression have all been associated with a poorer prognosis in concussed patients. This demonstrates that there are several potential clinical manifestations after head injury warranting clinical evaluation. We have developed an acronym to guide the office-based assessment of concussed patients to consider each of the potential clinical phenotypes. “COACH CV” prompts the clinician to evaluate for cognitive problems, oculomotor dysfunction, affective disturbances, cervical spine disorders, headaches, and cardiovascular and vestibular anomalies.

  3. Serum Vaspin Levels Are Associated with the Development of Clinically Manifest Arthritis in Autoantibody-Positive Individuals.

    Directory of Open Access Journals (Sweden)

    Karen I Maijer

    Full Text Available We have previously shown that overweight may increase the risk of developing rheumatoid arthritis (RA in autoantibody positive individuals. Adipose tissue could contribute to the development of RA by production of various bioactive peptides. Therefore, we examined levels of adipokines in serum and synovial tissue of subjects at risk of RA.Fifty-one individuals positive for immunoglobulin M rheumatoid factor (IgM-RF and/or anti-citrullinated protein antibodies (ACPA, without arthritis, were included in this prospective study. Levels of adiponectin, vaspin, resistin, leptin, chemerin and omentin were determined in baseline fasting serum samples (n = 27. Synovial tissue was obtained by arthroscopy at baseline and we examined the expression of adiponectin, resistin and visfatin by immunohistochemistry.The development of clinically manifest arthritis after follow-up was associated with baseline serum vaspin levels (HR1.5 (95% CI 1.1 to 2.2; p = 0.020, also after adjustment for overweight (HR1.7 (95% CI 1.1 to 2.5; p = 0.016. This association was not seen for other adipokines. Various serum adipokine levels correlated with BMI (adiponectin r = -0.538, leptin r = 0.664; chemerin r = 0.529 and systemic markers of inflammation such as CRP levels at baseline (adiponectin r = -0.449, omentin r = -0.557, leptin r = 0.635, chemerin r = 0.619, resistin r = 0.520 and ESR (leptin r = 0.512, chemerin r = 0.708, p-value<0.05. Synovial expression of adiponectin, resistin and visfatin was not associated with development of clinically manifest arthritis.In this exploratory study, serum adipokines were associated with an increased inflammatory state in autoantibody-positive individuals at risk of developing RA. Furthermore, serum vaspin levels may assist in predicting the development of arthritis in these individuals.

  4. Clinical and microbiological characteristics of unusual manifestations of invasive pneumococcal disease.

    Science.gov (United States)

    Sousa, Adrian; Pérez-Rodríguez, Maria Teresa; Nodar, Andrés; Martínez-Lamas, Lucía; Vasallo, Francisco Jose; Álvarez-Fernández, Maximiliano; Crespo, Manuel

    2017-06-22

    Invasive pneumococcal disease (IPD) typically presents as bacterial pneumonia, meningitis or primary bacteraemia. However, Streptococcus pneumoniae can produce infection at any level of the body (endocarditis, arthritis, spontaneous bacterial peritonitis, etc.), which is also known as unusual IPD (uIPD). There are very limited data available about the clinical and microbiological profile of these uncommon manifestations of pneumococcal disease. Our aim was to analyse clinical forms, microbiological profile, epidemiology and prognosis of a cohort of patients with unusual invasive pneumococcal disease (uIPD). We present a retrospective study of 389 patients (all adult and paediatric patients diagnosed during the period) diagnosed with IPD at our hospital (Complejo Hospitalario Universitario de Vigo) between 1992 and 2014. We performed an analysis of clinical, microbiological and demographical characteristics of patients comparing the pre-pneumococcal conjugate vaccine (PCV) period with the post-vaccination phase. IPD and uIPD were defined as follows; IPD: infection confirmed by the isolation of S. pneumoniae from a normally sterile site, which classically presented as bacterial pneumonia, meningitis or primary bacteraemia; uIPD: any case of IPD excluding pneumonia, meningitis, otitis media, rhinosinusitis or primary bacteraemia. A total of 22 patients (6%) met the criteria of uIPD. A Charlson index >2 was more prevalent in uIPD patients than IPD patients (45% vs 24%; p=0.08). The most common clinical presentation of uIPD was osteoarticular infection (8 patients, 36%), followed by gastrointestinal disease (4 patients, 18%). Infection with serotypes included in PCV-13 was significantly higher in IPD patients (65%) than in patients with uIPD, 35% (p=0.018). Conversely, infection with multidrug-resistant strains was higher among patient with uIPD (27% vs 9%; p=0.014). The all-cause mortality rate was 15%, 13% in the IPD group and 32% among patients with uIPD (p=0

  5. Aspergillus arthritis: analysis of clinical manifestations, diagnosis, and treatment of 31 reported cases.

    Science.gov (United States)

    Gamaletsou, Maria N; Rammaert, Blandine; Bueno, Marimelle A; Sipsas, Nikolaos V; Moriyama, Brad; Kontoyiannis, Dimitrios P; Roilides, Emmanuel; Zeller, Valerie; Taj-Aldeen, Saad J; Henry, Michael; Petraitis, Vidmantas; Denning, David W; Lortholary, Olivier; Walsh, Thomas J

    2017-04-01

    Aspergillus arthritis is a debilitating form of invasive aspergillosis. Little is known about its epidemiology, clinical manifestations, laboratory features, treatment, and prognosis. Cases of Aspergillus arthritis were reviewed in the English literature from 1967 through 2015 for variables of arthritis with Aspergillus spp. recovered from joint and/or adjacent bone, underlying conditions, symptoms, signs, inflammatory biomarkers, diagnostic imaging, management, and outcome. Among 31 evaluable cases, 87% were males and 13% pediatric. Median age was 50 y (range 1-83 y). Seventeen (55%) patients were immunosuppressed with such conditions as hematological malignancies (26%), corticosteroids (39%), and/or transplantation (26%). Approximately one-half (52%) of patients had hematogenous seeding of the joint, and more than 80% had de novo infection with no prior antifungal therapy. Oligoarticular infection (2-3 joints) occurred in 45% and contiguous osteomyelitis was present in 61%. Clinical manifestations included pain (87%), edema (26%), and limited function (23%), with knees (35%), intervertebral discs (26%), and hips (16%) being most commonly infected. Aspergillus fumigatus constituted 77% of cases followed by Aspergillus flavus in 13%, Aspergillus niger in 3%, and not specified in 7%. Median ESR was 90 mm/hr and median CRP was 3.6 mg/dl. Median synovial fluid WBC was 17,200/μL (7,300-128,000) with 72% PMNs (range 61-92). Osteolysis occurred in 35%, and soft-tissue extension 47%. Nineteen patients (61%) were managed with combined medical and surgical therapy, 10 (32%) with medical therapy only, and 2 (6%) surgery only. Amphotericin B and itraconazole were the most frequently used agents with median duration of therapy of 219 days (range 30-545). Surgical interventions included debridement in 61%, drainage 19%, and amputation 6%. Complete or partial response was achieved in 71% and relapse occurred in 16%. Medical therapy was reinstituted with successful outcome in

  6. Ocular Manifestations of Noonan Syndrome: A Prospective Clinical and Genetic Study of 25 Patients.

    Science.gov (United States)

    van Trier, Dorothée C; Vos, Anna M C; Draaijer, Renske W; van der Burgt, Ineke; Draaisma, Jos M Th; Cruysberg, Johannes R M

    2016-10-01

    To determine the full spectrum of ocular manifestations in patients with Noonan syndrome (NS). Prospective cross-sectional clinical and genetic study in a tertiary referral center. Twenty-five patients with NS (mean age, 14 years; range, 8 months-25 years) clinically diagnosed by validated criteria. All patients were examined by the same team following a detailed study protocol. Genetic analyses were performed in 23 patients. Ocular abnormalities of vision and refraction, external ocular features, ocular position and motility, anterior segment, posterior segment, and intraocular pressure. Ocular features of vision and refraction were amblyopia (32%), myopia (40%), and astigmatism (52%). External ocular features were epicanthic folds (84%), hypertelorism (68%), ptosis (56%), high upper eyelid crease (64%), lower eyelid retraction (60%), abnormal upward slanting palpebral fissures (36%), downward slanting palpebral fissures (32%), and lagophthalmos (28%). Orthoptic abnormalities included strabismus (40%), abnormal stereopsis (44%), and limited ocular motility (40%). Anterior segment abnormalities included prominent corneal nerves (72%) and posterior embryotoxon (32%). Additional ocular features were found, including nonglaucomatous optic disc excavation (20%), relatively low (Noonan syndrome is a clinical diagnosis with multiple genetic bases associated with an extensive variety of congenital ocular abnormalities. Ocular features of NS are characterized by 1 or more developmental anomalies of the eyelids (involving the position, opening, and closure) associated with various other ocular abnormalities in childhood, including amblyopia, myopia, astigmatism, strabismus, limited ocular motility, prominent corneal nerves, and posterior embryotoxon. Copyright © 2016 American Academy of Ophthalmology. Published by Elsevier Inc. All rights reserved.

  7. Neurologic Manifestations of Enterovirus 71 Infection in Korea.

    Science.gov (United States)

    Lee, Kyung Yeon; Lee, Myoung Sook; Kim, Dong Bin

    2016-04-01

    Enterovirus 71 frequently involves the central nervous system and may present with a variety of neurologic manifestations. Here, we aimed to describe the clinical features, magnetic resonance imaging (MRI) findings, and cerebrospinal fluid (CSF) profiles of patients presenting with neurologic complications of enterovirus 71 infection. We retrospectively reviewed the records of 31 pediatric patients hospitalized with acute neurologic manifestations accompanied by confirmed enterovirus 71 infection at Ulsan University Hospital between 2010 and 2014. The patients' mean age was 2.9 ± 5.5 years (range, 18 days to 12 years), and 80.6% of patients were less than 4 years old. Based on their clinical features, the patients were classified into 4 clinical groups: brainstem encephalitis (n = 21), meningitis (n = 7), encephalitis (n = 2), and acute flaccid paralysis (n = 1). The common neurologic symptoms included myoclonus (58.1%), lethargy (54.8%), irritability (54.8%), vomiting (48.4%), ataxia (38.7%), and tremor (35.5%). Twenty-five patients underwent an MRI scan; of these, 14 (56.0%) revealed the characteristic increased T2 signal intensity in the posterior region of the brainstem and bilateral cerebellar dentate nuclei. Twenty-six of 30 patients (86.7%) showed CSF pleocytosis. Thirty patients (96.8%) recovered completely without any neurologic deficits; one patient (3.2%) died due to pulmonary hemorrhage and shock. In the present study, brainstem encephalitis was the most common neurologic manifestation of enterovirus 71 infection. The characteristic clinical symptoms such as myoclonus, ataxia, and tremor in conjunction with CSF pleocytosis and brainstem lesions on MR images are pathognomonic for diagnosis of neurologic involvement by enterovirus 71 infection.

  8. Olmesartan-induced Enteropathy Manifesting as Wernicke-Korsakoff Syndrome.

    Science.gov (United States)

    Uehara, Takanori; Ikusaka, Masatomi; Ohira, Yoshiyuki; Noda, Kazutaka; Suzuki, Shingo; Shikino, Kiyoshi; Kondo, Takeshi; Kajiwara, Hideki; Ikegami, Akiko; Hirota, Yusuke

    Cases of sprue-like enteropathy associated with olmesartan have sporadically been encountered since it was first reported in 2012, and their most characteristic manifestation is severe diarrhea. We herein report the first case of sprue-like enteropathy manifesting as Wernicke-Korsakoff syndrome due to vitamin B1 malabsorption with only minimally increased bowel movements. When patients are receiving olmesartan and they complain of nonspecific chronic gastrointestinal symptoms, it is important to consider changing the drugs before any serious malabsorption syndrome develops.

  9. Sub-clinical assessment of atopic dermatitis severity using angiographic optical coherence tomography

    Science.gov (United States)

    Byers, Robert A.; Maiti, Raman; Danby, Simon G.; Pang, Elaine J.; Mitchell, Bethany; Carré, Matt J.; Lewis, Roger; Cork, Michael J.; Matcher, Stephen J.

    2018-01-01

    Measurement of sub-clinical atopic dermatitis (AD) is important for determining how long therapies should be continued after clinical clearance of visible AD lesions. An important biomarker of sub-clinical AD is epidermal hypertrophy, the structural measures of which often make optical coherence tomography (OCT) challenging due to the lack of a clearly delineated dermal-epidermal junction in AD patients. Alternatively, angiographic OCT measurements of vascular depth and morphology may represent a robust biomarker for quantifying the severity of clinical and sub-clinical AD. To investigate this, angiographic data sets were acquired from 32 patients with a range of AD severities. Deeper vascular layers within skin were found to correlate with increasing clinical severity. Furthermore, for AD patients exhibiting no clinical symptoms, the superficial plexus depth was found to be significantly deeper than healthy patients at both the elbow (p = 0.04) and knee (p<0.001), suggesting that sub-clinical changes in severity can be detected. Furthermore, the morphology of vessels appeared altered in patients with severe AD, with significantly different vessel diameter, length, density and fractal dimension. These metrics provide valuable insight into the sub-clinical severity of the condition, allowing the effects of treatments to be monitored past the point of clinical remission. PMID:29675335

  10. e-Manifest

    Science.gov (United States)

    This is the primary hub for those seeking information about the e-Manifest system, its advisory board, and its development. Once the system is complete this area will serve as the portal into the e-Manifest system from EPA webpages.

  11. Adult mitochondrial DNA depletion syndrome with mild manifestations

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2013-06-01

    Full Text Available Mitochondrial DNA depletion syndrome (MDS is usually a severe disorder of infancy or childhood, due to a reduced copy number of mtDNA molecules. MDS with only mild, non-specific clinical manifestations and onset in adulthood has not been reported. A 47-year-old Caucasian female with short stature and a history of migraine, endometriosis, Crohn’s disease, C-cell carcinoma of the thyroid gland, and a family history positive for mitochondrial disorder (2 sisters, aunt, niece, developed day-time sleepiness, exercise intolerance, and myalgias in the lower-limb muscles since age 46y. She slept 9-10 hours during the night and 2 hours after lunch daily. Clinical exam revealed sore neck muscles, bilateral ptosis, and reduced Achilles tendon reflexes exclusively. Blood tests revealed hyperlipidemia exclusively. Nerve conduction studies, needle electromyography, and cerebral and spinal magnetic resonance imaging were non-informative. Muscle biopsy revealed detached lobulated fibers with subsarcolemmal accentuation of the NADH and SDH staining. Real-time polymerase chain reaction revealed depletion of the mtDNA down to 9% of normal. MDS may be associated with a mild phenotype in adults and may not significantly progress during the first year after onset. In an adult with hypersomnia, severe tiredness, exercise intolerance, and a family history positive for mitochondrial disorder, a MDS should be considered.

  12. Severe Sepsis Manifesting as A-Fib with Rapid Ventricular Rate

    Directory of Open Access Journals (Sweden)

    Paul Nicholson

    2018-01-01

    Full Text Available Audience: This simulation is designed to educate emergency medicine residents and medical students on the diagnosis and management of an adult patient with sepsis due to a decubitus ulcer manifesting as acute-onset atrial fibrillation (A-fib with rapid ventricular response (RVR. Introduction: Adult patients frequently present critically ill from sepsis. Proper diagnosis and management require a focused but thorough history and physical exam, as well as an appropriate diagnostic workup. Management includes aggressive care with antibiotics and intravenous fluids, and may require vasoactive agents. Objectives: Learners will be able to identify and manage atrial fibrillation with rapid ventricular response. Additionally, learners will be able to identify the concurrent infection and determine the appropriate management in the setting of A-fib with RVR. The case also provides learners with the opportunity to review principles of leadership, teamwork, and effective communication. Method: This session was conducted using high-fidelity simulation, followed by a debriefing session.

  13. Cutaneous manifestation in children with HIV/AIDS

    Directory of Open Access Journals (Sweden)

    Seyed Naser Emadi

    2014-02-01

    Full Text Available The most recent studies have explained almost 2.3 million children are affected with HIV up to the end of 2009. Sub-Saharan Africa is the main region affected by AIDS compare to other parts of the world. Despite providing competent healthcare services to prevent mother-to-child transmission as a main way of infection to a newborn, an estimated 370,000 children were newly infected to HIV in 2009. Skin disorders are common and may even be the first manifestation of HIV in children.The most common skin illnesses are classified in four categories; infectious, inflammatory, neoplastic, and drug related (Highly Active Antiretroviral Therapy. In addition, unusual anatomical sites, disseminated skin lesions, increased frequency and severity, unexplained clinical presentation, rapid onset, and finally treatment failure may be the other specified skin conditions in HIV/AIDS children. CD4 count and viral load are two basic factors playing an important role in terms of type and severity of skin illness. The aim of this review was to show the common and crucial cutaneous findings among HIV/AIDS children via published articles with the same subject.

  14. Interleukin 1 beta (IL1ß) rs16944 genetic variant as a genetic marker of severe renal manifestations and renal sequelae in Henoch-Schönlein purpura.

    Science.gov (United States)

    López-Mejías, Raquel; Genre, Fernanda; Remuzgo-Martínez, Sara; Sevilla Pérez, Belen; Castañeda, Santos; Llorca, Javier; Ortego-Centeno, Norberto; Ubilla, Begoña; Mijares, Verónica; Pina, Trinitario; Calvo-Río, Vanesa; Miranda-Filloy, Jose A; Navas Parejo, Antonio; Argila, Diego; Sánchez-Pérez, Javier; Rubio, Esteban; Luque, Manuel León; Blanco-Madrigal, Juan María; Galíndez-Aguirregoikoa, Eva; Martín, Javier; Blanco, Ricardo; González-Gay, Miguel A

    2016-01-01

    Data from a small series suggested that the Interleukin 1 beta (IL1ß) rs16944 polymorphism may be associated with severe renal involvement and persistent renal damage (renal sequelae) in Henoch-Schönlein purpura (HSP). To confirm this association, we assessed the largest cohort of Caucasian HSP patients ever considered for genetic studies. 338 Spanish HSP patients and 635 sex and ethnically matched controls were recruited in this study. All patients were required to have had at least 6 months' follow-up. Patients and controls were genotyped for IL1β rs16944 by TaqMan genotyping assay. No differences between IL1β rs16944 genotype or allele frequencies were found either in the case/control study or when HSP patients were stratified according to the age at disease onset, presence of nephritis or gastrointestinal manifestations. Nevertheless, 4 (25%) of the 16 HSP patients who developed severe renal manifestations carried the TT genotype versus 29 (9%) of 322 who did not develop this complication (p=0.01, OR=5.48, 95% CI: 1.01-28.10). Accordingly, patients carrying the mutant T allele had an increased risk of developing severe nephropathy (p=0.016, OR=2.35, 95% CI: 1.09-5.07). Additionally, a significant increase of the TT genotype was observed in patients with persistent renal damage when compared with those patients without this complication (25% versus 8.6%, respectively; p=0.0035, OR=4.90, 95% CI: 1.26- 18.51). Moreover, renal sequelae were more common in patients carrying the mutant T allele (p=0.0076, OR=2.20, 95% CI: 1.17-4.14). Our results support that the IL1ß rs16944 polymorphism may be a potential marker of severe renal manifestations and renal sequelae in HSP.

  15. Clinical presentation and imaging of a rare case of Tarsal Tuberculosis.

    Science.gov (United States)

    Kapetanakis, Stylianos; Chourmouzi, Danai; Papadopoulou, Elissavet; Oikonomou, Dimitrios; Gkantsinikoudis, Nikolaos

    2018-02-01

    A 43-year-old woman arrived to emergency unit of our hospital, referring intense deteriorated pain and swelling of midfoot. Rapid clinical evolvement of osteoarticular tuberculosis represents a potential clinical scenario. Clinicians should always include foot tuberculosis in differential diagnosis, in cases of severe clinical and radiological manifestations.

  16. Extreme Descemet's membrane rupture with hydrops in keratoconus: Clinical and histological manifestations

    Directory of Open Access Journals (Sweden)

    I-Ping Loh

    2018-06-01

    Full Text Available Purpose: To study the clinical and histological manifestations of an extreme Descemet's membrane rupture as a result of keratoconus. Observations: Using Periodic acid-Schiff assay to study a keratoconic cornea with an extreme rupture showed that the ruptured Descemet's membrane had retracted and folded into scrolls and ridges. The dimensions of the rupture were estimated to be 3.7mm2, and the central cornea was extremely thinned with a thickness of only 260μm. Stromal scarring and loosely packed lamellae were present anterior to the scrolls and ridges. Antibodies targetting the major components of Descemet's membrane, Laminin and type IV collagen, displayed intense labelling adjacent to the scrolls where the stroma was denuded and differential expression patterns lined the ridges. Environmental scanning electron microscopy showed possible collagen deposition at the site of rupture. Conclusions and importance: The specific staining patterns of laminin and type IV collagen suggest these components have an important role in re-endothelisation of the cornea. This is the first known report of spatial resolution of the topography of the Descemet's membrane rupture established by environmental scanning electron microscopic image montage. Keywords: Keratoconus, Descemet's membrane, Descemet's tear, Hydrops, Corneae, Histology

  17. Congenital TORCH infections of the brain--CT manifestation (with analysis of 7 cases)

    International Nuclear Information System (INIS)

    Li Xin; Li Minglin; Yang Zhiyong

    1997-01-01

    To study the neuropathologic changes and CT manifestations in congenital TORCH infection of the brain. Analysis of 7 cases of congenital TORCH infection of the neonates and infants demonstrated by serum examination was performed. There were congenital toxoplasmosis 3 cases, congenital syncytial virus infection 1 case, congenital rubella virus infection 1 case, congenital cytomegalovirus infection 2 cases, and congenital herpes simplex virus infection 1 case. Cerebral hypoplasia, ventricular dilatation or hydrocephalus, subependymal and parenchymal calcifications, microcephalic focal cortical migration anomalies, schizencephaly polymicrogyria, et al, were demonstrated by CT with congenital TORCH infection. The earlier the infection, the more severe the brain developmental anomalies. The extent and appearance of calcification in brain were related to the degree, extent and course of TORCH infection. Basal ganglia calcification of unknown cause in infant was suggestive of congenital TORCH infection. Typical CT manifestations together with clinical picture may suggest congenital TORCH infection, while serological test can be diagnostic

  18. A clinical study of the cutaneous manifestations of hyperthyroidism in Kashmir valley – India

    OpenAIRE

    Mohamad Abid Keen; Mohamad Hayat Bhat; Iffat Hassan; Parvaiz Ahmad Shah; Yasmeen Jabeen Bhat

    2016-01-01

    Introduction: Thyroid hormones are instrumental in regulating the health and appearance of skin and when the thyroid gland becomes underactive or overactive, a variety of skin problems result. These dermatologic manifestations may occur secondary to the abnormal thyroid hormone levels or due to the presence of thyroid autoantibodies that interact with skin components. Aims: The present study was designed to ascertain the varied cutaneous manifestations of hyperthyroidism. Methods: Thi...

  19. Prevalence of cutaneous manifestations of diabetes mellitus

    International Nuclear Information System (INIS)

    Ahmed, K.; Muhammad, Z.; Qayum, I.

    2009-01-01

    Diabetes mellitus (DM) is a clinical syndrome characterized by hyperglycaemia due to absolute or relative insulin deficiency. The aim of this study was to evaluate the frequency of skin manifestations in patients with diabetes mellitus of this area. This descriptive study was conducted in medical out patient door of District Headquarter Hospital Battgram from January 2008 to July 2008. A total of 350 diabetic (types 1 and 2) patients over 15 years of age attending the medical OPD of DHQ Hospital were examined in detail for skin manifestations of the disease. Three hundred and fifty diabetic (type-1 and type-2) patients (193 females and 157 males) enrolled in this study. Mean age of the patients was 54+-8.53 years. Duration of diabetes was between 1-12 years; 320 patients had type-2 and 30 patients had type-1 diabetes mellitus. Patients with uncontrolled disease were 327 and 23 patients showed adequate glycaemic control. Seventy-six percent of patients had cutaneous manifestations. The skin manifestations observed were: skin infections 30.9%, foot gangrene and ulcers 12.9%, pruritus 7.1%, vitiligo 5.7%, yellow skin 4.2%, diabetic dermopathy 4.2%, skin tags 3.7%, acanthosis nigricans 2.9%, eruptive xanthomas 2.6%, necrobiosis lipoidica diabeticorum 1.4%, diabetic bullae 0.6%, and pigmented purpuras in 0.3% patients. Cutaneous manifestations were quite Common in the diabetics of this area. (author)

  20. Pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis - a case report-

    International Nuclear Information System (INIS)

    Lee, Young Rahn; Kang, Eun Young; Lee, Nam Joon; Suh, Won Hyuck

    1991-01-01

    Pulmonary lymphangioleiomyomatosis is a very rare disease mainly arising in reproductive-aged women. Pulmonary lymphangioleiomyomatosis as a pulmonary involvement of tuberous sclerosis is found in only 1 out of 100 patients. Pulmonary involvement in pulmonary lymphangioleiomyomatosis itself and that as a pulmonary manifestation of tuberous sclerosis has been considered very similar with regard to clinical, radiologic, and pathologic manifestations. We report 1 case of pulmonary lymphangioleiomyomatosis as a pulmonary manifestation of tuberous sclerosis in a 39-year-old Korean woman

  1. Prevalence and severity of ocular involvement in Graves' disease according to sex and age: A clinical study from Babol, Iran.

    Science.gov (United States)

    Gharib, Sara; Moazezi, Zoleika; Bayani, Mohammad Ali

    2018-01-01

    Thyroid-associated eye disease (TED), previously known as Graves' ophthalmopathy is a cosmetically and functionally debilitating disease that is seen worldwide. The aim of this study was to evaluate the prevalence and clinical severity of ocular manifestations of Graves' disease according to sex, age and duration in northern Iran. Between April 2011 and March 2012, 105 patients with Graves' disease, underwent ophthalmic examination, including ocular motility, exophthalmometry, intraocular pressure (IOP), slit lamp and fundoscopy. Patients received scores according to modified Werner's NO SPECS classification. Ocular involvement was found in 70 patients with established Graves's disease. The mean age was 35.0 years, (SD 13.0, range 15 to 69). The most common ocular findings were exophthalmometric proptosis of more than 20 mm (63.8%), lid lag (55.7%), lid retraction (52.8%) and tearing (38.6%). Almost 70% of patients had bilateral involvement. Elevated IOP was seen in 15 (25.4%) patients, and was significantly related to proptosis (P=0.007). More than half of the patients (n=36, 52.2%) had a modified Werner's NO SPECS score of 3.00. Clinical severity as shown by the increasing number of signs and symptoms per patient was correlated to increasing age (r=0.31, P=0.01) but not to gender (P=0.17). Both functional (ocular motility disorders, increased IOP) and cosmetic (proptosis, periorbital edema) sequels are common ocular presentations in patients with Graves' disease. Proptosis was the most common finding in this study and was associated with elevated IOP. Clinical severity was found to correlate to increasing age.

  2. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    Science.gov (United States)

    Scalco, Renata S; Snoeck, Marc; Quinlivan, Ros; Treves, Susan; Laforét, Pascal; Jungbluth, Heinz; Voermans, Nicol C

    2016-01-01

    Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown. Repeated episodes of exertional rhabdomyolysis should raise the suspicion of such an underlying disorder, in particular in individuals in whom the severity of the rhabdomyolysis episodes exceeds the expected response to the exercise performed. The present review aims to provide a practical guideline for the acute management and postepisode counselling of patients with exertional rhabdomyolysis, with a particular emphasis on when to suspect an underlying genetic disorder. The pathophysiology and its clinical features are reviewed, emphasising four main stepwise approaches: (1) the clinical significance of an acute episode, (2) risks of renal impairment, (3) clinical indicators of an underlying genetic disorders and (4) when and how to recommence sport activity following an acute episode of rhabdomyolysis. Genetic backgrounds that appear to be associated with both enhanced athletic performance and increased rhabdomyolysis risk are briefly reviewed.

  3. Exertional rhabdomyolysis: physiological response or manifestation of an underlying myopathy?

    Science.gov (United States)

    Scalco, Renata S; Snoeck, Marc; Quinlivan, Ros; Treves, Susan; Laforét, Pascal; Jungbluth, Heinz; Voermans, Nicol C

    2016-01-01

    Exertional rhabdomyolysis is characterised by muscle breakdown associated with strenuous exercise or normal exercise under extreme circumstances. Key features are severe muscle pain and sudden transient elevation of serum creatine kinase (CK) levels with or without associated myoglobinuria. Mild cases may remain unnoticed or undiagnosed. Exertional rhabdomyolysis is well described among athletes and military personnel, but may occur in anybody exposed to unaccustomed exercise. In contrast, exertional rhabdomyolysis may be the first manifestation of a genetic muscle disease that lowers the exercise threshold for developing muscle breakdown. Repeated episodes of exertional rhabdomyolysis should raise the suspicion of such an underlying disorder, in particular in individuals in whom the severity of the rhabdomyolysis episodes exceeds the expected response to the exercise performed. The present review aims to provide a practical guideline for the acute management and postepisode counselling of patients with exertional rhabdomyolysis, with a particular emphasis on when to suspect an underlying genetic disorder. The pathophysiology and its clinical features are reviewed, emphasising four main stepwise approaches: (1) the clinical significance of an acute episode, (2) risks of renal impairment, (3) clinical indicators of an underlying genetic disorders and (4) when and how to recommence sport activity following an acute episode of rhabdomyolysis. Genetic backgrounds that appear to be associated with both enhanced athletic performance and increased rhabdomyolysis risk are briefly reviewed. PMID:27900193

  4. Severe hypertriglyceridemia. Clinical characteristics and therapeutic management.

    Science.gov (United States)

    Masson, Walter; Rossi, Emiliano; Siniawski, Daniel; Damonte, Juan; Halsband, Ana; Barolo, Ramiro; Scaramal, Miguel

    2018-05-19

    The therapeutic management of severe hypertriglyceridaemia represents a clinical challenge. The objectives of this study were 1) to identify the clinical characteristics of patients with severe hypertriglyceridaemia, and 2) to analyse the treatment established by the physicians in each case. A cross-sectional study was carried out using the computerised medical records of all patients>18 years of age with a blood triglyceride level≥1,000mg/dL between 1 January 2011 and 31 December 2016. Clinical and laboratory variables were collected. The behaviour of the physicians in the 6 months after the lipid finding was analysed. A total of 420 patients were included (mean age 49.1±11.4 years, males 78.8%). The median of triglycerides was 1,329mg/dL (interquartile range 1,174-1,658). No secondary causes were found in 34.1% of the patients. The most frequent secondary causes were obesity (38.6%) and diabetes (28.1%). Physical activity was recommended and a nutritionist was referred to in 49.1% and 44.2% of the patients, respectively. Secondary causes were identified and attempts were made to correct them in 40.7% of cases. The most indicated pharmacological treatments were fenofibrate 200mg/day (26.5%) and gemfibrozil 900mg/day (19.3%). Few patients received the indication of omega 3 fatty acids or niacin. This study showed, for the first time in our country, the characteristics of a population with severe hypertriglyceridaemia. The therapeutic measures instituted by the physicians were insufficient. Knowing the characteristics in this particular clinical scenario could improve the current approach of these patients. Copyright © 2018 Sociedad Española de Arteriosclerosis. Publicado por Elsevier España, S.L.U. All rights reserved.

  5. The clinical and imaging manifestations of tuberculous esophagitis (report of a case and a review of literatures)

    International Nuclear Information System (INIS)

    Cui Fa; He Yunfei

    2006-01-01

    Objective: To improve the understanding of tuberculous esophagifis through a case report and literatures. Method: Retrospectively analyze the clinical and imaging (a barium swallow and CT examination) manifestations of a case of tuberculous esophagifis proved by postoperative pathology. Results: A barium swallow showed a smooth impression over mid third of esophagus anteriorly wall and a niche of approximately 10mm in daimeterin with no mucosal abnormality. CT showed enlarged paratracheak and paraesophageal lymph nodes compressing the esophagus anteriorly. The presumptive diagnosis was lymphoma involved the mediasfinum and the esophagus. Conclusion: Careful and integrative analysis of multiple imaging demonstration can improve diagnosis accuracy of the disease. (authors)

  6. Neurofibromatosis: part 2 – clinical management

    Directory of Open Access Journals (Sweden)

    Pollyanna Barros Batista

    2015-06-01

    Full Text Available Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF: neurofibromatosis type 1 (NF1, neurofibromatosis type 2 (NF2 and schwannomatosis (SCH. NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH. The present text suggests guidelines for the clinical management of NF, with emphasis on NF1.

  7. Traumatic facial nerve palsy: CT patterns of facial nerve canal fracture and correlation with clinical severity

    Energy Technology Data Exchange (ETDEWEB)

    Seo, Jae Cheol; Kim, Sang Joon; Park, Hyun Min; Lee, Young Suk; Lee, Jee Young [College of Medicine, Dankook Univ., Chonan (Korea, Republic of)

    2002-07-01

    To analyse the patterns of facial nerve canal injury seen at temporal bone computed tomography (CT) in patients with traumatic facial nerve palsy and to correlate these with clinical manifestations and outcome. Thirty cases of temporal bone CT in 29 patients with traumatic facial nerve palsy were analyzed with regard to the patterns of facial nerve canal involvement. The patterns were correlated with clinical grade, the electroneurographic (ENoG) findings, and clinical outcome. For clinical grading, the House-Brackmann scale was used, as follows:grade I-IV, partial palsy group; grade V-VI, complete palsy group. The electroneuronographic findings were categorized as mild to moderate (below 90%) or severe (90% and over) degeneration. In 25 cases, the bony wall of the facial nerve canals was involved directly (direct finding): discontinuity of the bony wall was onted in 22 cases, bony spicules in ten, and bony wall displacement in five. Indirect findings were canal widening in nine cases and adjacent bone fracture in two. In one case, there were no direct or indirect findings. All cases in which there was complete palsy (n=8) showed one or more direct findings including spicules in six, while in the incomplete palsy group (n=22), 17 cases showed direct findings. In the severe degeneration group (n=13), on ENog, 12 cases demonstrated direct findings, including spicules in nine cases. In 24 patients, symptoms of facial palsy showed improvement at follow up evaluation. Four of the five patients in whom symptoms did not improve had spicules. Among ten patients with spicules, five underwent surgery and symptoms improved in four of these; among the five patients not operated on , symptoms did not improve in three. In most patients with facial palsy after temporal bone injury, temporal bone CT revealed direct or indirect facial nerve canal involvement, and in complete palsy or severe degeneration groups, there were direct findings in most cases. We believe that meticulous

  8. A CLINICAL CASE OF MUCOSIS FUNGOIDES

    Directory of Open Access Journals (Sweden)

    Е. S. Filimonova

    2014-01-01

    Full Text Available Mucosis fungoides (Sezary syndrome is a rare disease. Because of polymorphism of clinical manifestations that mimic benign diseases of the skin, it often takes several years before the disease is diagnosed. The paper presents a clinical case of progressive mucosis fungoides with unfavorable outcome. The diagnosis of mycosis fungoides was first suspected on the basis of laboratory studies of peripheral blood.

  9. The successful medical management of severe duodenal strictures secondary to eosinophilic gastroenteritis in an infant

    NARCIS (Netherlands)

    Tan, H. L.; Sithasanan, N.; Foley, P.; Davidson, G. P.

    2003-01-01

    Eosinophilic gastroenteritis is an uncommon condition of unknown etiology that has only been relatively recently reported. Its clinical manifestations range from a mild disease to more severe forms resembling Crohn's disease. Enteric strictures are a rare but recognized complication of this

  10. Unusual Manifestation of Cutaneous Sarcoidosis: A Case Report of Morpheaform Sarcoidosis

    OpenAIRE

    Attiyeh Vasaghi; Amir Kalafi

    2012-01-01

    Sarcoidosis is multi organ disease with cutaneous manifestation in 20%-35% patients. Cutaneous sarcoidosis has variable manifestations that make it difficult to diagnose. So clinical, histopathologic and laboratory evaluation is needed for diagnosis. Most of cutaneous lesions presents as nodul, maculopapule and plaque. Morpheaform lesion is a rare presentation of cutaneous sarcoidosis. This case had multiple indurated scaly plaques resemble morphea with granulomatous pattern in histopathologi...

  11. Case analysis of temporal bone lesions with facial paralysis as main manifestation and literature review.

    Science.gov (United States)

    Chen, Wen-Jing; Ye, Jing-Ying; Li, Xin; Xu, Jia; Yi, Hai-Jin

    2017-08-23

    This study aims to discuss clinical characteristics, image manifestation and treatment methods of temporal bone lesions with facial paralysis as the main manifestation for deepening the understanding of such type of lesions and reducing erroneous and missed diagnosis. The clinical data of 16 patients with temporal bone lesions and facial paralysis as main manifestation, who were diagnosed and treated from 2009 to 2016, were retrospectively analyzed. Among these patients, six patients had congenital petrous bone cholesteatoma (PBC), nine patients had facial nerve schwannoma, and one patient had facial nerve hemangioma. All the patients had an experience of long-term erroneous diagnosis. The lesions were completely excised by surgery. PBC and primary facial nerve tumors were pathologically confirmed. Facial-hypoglossal nerve anastomosis was performed on two patients. HB grade VI was recovered to HB grade V in one patient. The anastomosis failed due to severe facial nerve fibrosis in one patient. Hence, HB remained at grade VI. Postoperative recovery was good for all patients. No lesion recurrence was observed after 1-6 years of follow-up. For the patients with progressive or complete facial paralysis, imaging examination should be perfected in a timely manner. Furthermore, PBC, primary facial nerve tumors and other temporal bone space-occupying lesions should be eliminated. Lesions should be timely detected and proper intervention should be conducted, in order to reduce operation difficulty and complications, and increase the opportunity of facial nerve function reconstruction.

  12. HYPOPARATHYROIDISM: ETIOLOGY, CLINICAL MANIFESTATION, CURRENT DIAGNOSTICS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    N. G. Mokrysheva

    2016-01-01

    treatment with recombinant PTH is not widely used. Replacement therapy with recombinant human PTH is a  promising area, especially in severe clinical cases, refractory to conventional treatment.

  13. Musculoskeletal manifestations of bacterial endocarditis

    Directory of Open Access Journals (Sweden)

    Érika Bevilaqua Rangel

    2000-09-01

    Full Text Available CONTEXT: The incidence of staphylococcal infection has been increasing during the last 20 years. OBJECTIVE: Report a case of staphylococcal endocarditis preceded by musculoskeletal manifestations, which is a rare form of clinical presentation. DESIGN: Case report. CASE REPORT: A 45-year-old-man, without addictions and without known previous cardiopathy, was diagnosed as having definitive acute bacterial endocarditis due to Staphylococcus aureus. Its etiology was community-acquired, arising from a non-apparent primary focus. In addition, the musculoskeletal symptoms preceded the infective endocarditis (IE by about 1 month, which occurred together with other symptoms, e.g. mycotic aneurysms and petechiae. Later, the patient showed perforation of the mitral valve and moderate mitral insufficiency with clinical control.

  14. Epidemiology, clinical manifestations, and molecular typing of salmonella typhi isolated from patients with typhoid fever in Lebanon.

    Science.gov (United States)

    Kanj, Souha S; Kanafani, Zeina A; Shehab, Marwa; Sidani, Nisreen; Baban, Tania; Baltajian, Kedak; Dakdouki, Ghenwa K; Zaatari, Mohamad; Araj, George F; Wakim, Rima Hanna; Dbaibo, Ghassan; Matar, Ghassan M

    2015-06-01

    The objective of this study was to examine the epidemiology and the clinical manifestations of typhoid fever as well as the susceptibility and strain relatedness of Salmonella typhi isolates in Lebanon from 2006 to 2007. A total of 120 patients with typhoid fever were initially identified from various areas of the country based on positive culture results for S. typhi from blood, urine, stools, bone marrow and/or positive serology. Clinical, microbiological and molecular analysis was performed on cases with complete data available. These results indicated that drinking water was an unlikely mode of transmission of the infection. Despite increasing reports of antimicrobial resistance among S. typhi isolates, the vast majority of these isolates were susceptible to various antibiotic agents, including ampicillin, cephalosporins, quinolones, and trimethoprim/sulfamethoxazole. Molecular analysis of the isolates revealed a predominance of one single genotype with no variation in distribution across the geographical regions. Copyright © 2014 Ministry of Health, Saudi Arabia. Published by Elsevier Ltd. All rights reserved.

  15. Learn about the Hazardous Waste Electronic Manifest System (e-Manifest)

    Science.gov (United States)

    This webpage provides information on EPA's work toward developing a hazardous waste electronic manifest system. Information on the Hazardous Waste Electronic Manifest Establishment Act, progress on the project and frequent questions are available.

  16. Status Epilepticus as an Initial Manifestation of Neurosyphilis: A Case Report

    Directory of Open Access Journals (Sweden)

    Chien-Hsun Li

    2006-08-01

    Full Text Available Seizures and focal neurologic deficits may be the complications of neurosyphilis, but status epilepticus as a presenting picture of neurosyphilis is rare. We describe a 41-year-old man with an acute onset of expressive dysphasia, followed by persistent seizure state and severe complications of systemic medical problems. An extensive laboratory evaluation confirmed the diagnosis of neurosyphilis and diabetes mellitus. Brain magnetic resonance imaging showed edematous change in the left cingulate gyrus, left temporal lobe, and peri-Rolandic area, which suggested an inflammatory process. Due to varied clinical manifestations of neurosyphilis, we underscore the importance of considering neurosyphilis among the possible causes of status epilepticus and any central nervous system diseases.

  17. Mandibular and Dental Manifestations of Gaucher Disease

    Science.gov (United States)

    Saranjam, Hamid R.; Sidransky, Ellen; Levine, William Z.; Zimran, Ari; Elstein, Deborah

    2012-01-01

    Gaucher disease is a systemic lysosomal storage disorder with a high prevalence among Ashkenazi Jews. It is caused by an inherited deficiency of the lysosomal enzyme glucocerebrosidase. Common signs and symptoms include hepatosplenomegaly, anemia, thrombocytopenia, and skeletal involvement. Oral and dental manifestations are less commonly seen. These manifestations are often asymptomatic, although they may be detected by routine dental x-rays. There are several case reports and a few larger series published describing patients with Gaucher disease who have mandibulo-maxillofacial involvement. This review aims to examine the oral manifestations observed in Gaucher disease and to suggest practical guidelines for dealing with these often worrisome signs. Among the critical issues are the benign nature of Gaucher cell infiltration of the mandible and the critical importance of being prepared for post-procedure bleeding and/or infections. Therefore, it is essential that dental practitioners be aware of the possible oral and dental complications of Gaucher disease, as well as the available treatment modalities. PMID:22251146

  18. Serum levels of Th1/Th2 cytokines in aged patients and their correlation with eczema development and clinical manifestation

    Directory of Open Access Journals (Sweden)

    Wei-Gang Wang

    2016-05-01

    Full Text Available Objective: To investigate variations of Th1/Th2 cytokine levels, as well as their correlation with eczema development and clinical manifestation in aged patients. Methods: A total of 92 patients (above 60 years old with eczema diagnosed by the outpatient department of dermatology and venerology of our hospital were included as the eczema group, while 60 aged patients without eczema as the healthy group. Patients' serum levels of Th1/Th2 cytokines were examined for inter-group comparison and stratified analysis as per clinical manifestation. Results: Serum levels of interleukin (IL-2, IL-4, IL-10, IL-12, tumor necrosis factor (TNF- α and interferon (IFN- γ were all significantly higher in patients of the eczema group than the healthy group. Acute stage levels of IL-2, IL-4, IL-10 and IFN-γ were significantly higher in patients of the eczema group than the healthy group. There was no significant difference in the levels of IL-12 and TNF-α between patients of the acute stage and those of the chronic stage. And no significant difference existed in the levels of IL-2, IL-4, IL-10, IL-12, TNF-α and IFN-γ between generalized and localized eczema patients. Conclusion: Compared with the healthy population, Th1/Th2 cytokine levels are significantly different in eczema patients, especially those in the acute stage.

  19. Metabolic and hormonal signatures in pre-manifest and manifest Huntington’s disease patients

    Directory of Open Access Journals (Sweden)

    Rui eWang

    2014-06-01

    Full Text Available Huntington's disease (HD is an inherited neurodegenerative disorder typified by involuntary body movements, and psychiatric and cognitive abnormalities. Many HD patients also exhibit metabolic changes including progressive weight loss and appetite dysfunction. Here we have investigated metabolic function in pre-manifest and manifest HD subjects to establish an HD subject metabolic hormonal plasma signature. Individuals at risk for HD who have had predictive genetic testing showing the cytosine-adenine-guanine (CAG expansion causative of HD, but who do not yet present signs and symptoms sufficient for the diagnosis of manifest HD are said to be pre-manifest. Pre-manifest and manifest HD patients, as well as both familial and non-familial controls, were evaluated for multiple peripheral metabolism signals including circulating levels of hormones, growth factors, lipids and cytokines. Both pre-manifest and manifest HD subjects exhibited significantly reduced levels of circulating growth factors, including growth hormone and prolactin. HD-related changes in the levels of metabolic hormones such as ghrelin, glucagon and amylin were also observed. Total cholesterol, HDL-C and LDL-C were significantly decreased in HD subjects. C-reactive protein was significantly elevated in pre-manifest HD subjects. The observation of metabolic alterations, even in subjects considered to be in the pre-manifest stage of HD, suggests that in addition, and prior, to overt neuronal damage, HD affects metabolic hormone secretion and energy regulation, which may shed light on pathogenesis, and provide opportunities for biomarker development.

  20. Chinese SLE Treatment and Research Group Registry: III. Association of Autoantibodies with Clinical Manifestations in Chinese Patients with Systemic Lupus Erythematosus

    Directory of Open Access Journals (Sweden)

    Jing Li

    2014-01-01

    Full Text Available We investigated the characteristics of Chinese SLE patients by analyzing the association between specific autoantibodies and clinical manifestations of 2104 SLE patients from registry data of CSTAR cohort. Significant (P<0.05 associations were found between anti-Sm antibody, anti-rRNP antibody, and malar rash; between anti-RNP antibody, anti-SSA antibody, and pulmonary arterial hypertension (PAH; between anti-SSB antibody and hematologic involvement; and between anti-dsDNA antibody and nephropathy. APL antibody was associated with hematologic involvement, interstitial lung disease, and a lower prevalence of oral ulcerations (P<0.05. Associations were also found between anti-dsDNA antibody and a lower prevalence of photosensitivity, and between anti-SSA antibody and a lower prevalence of nephropathy (P<0.05. Most of these findings were consistent with other studies in the literature but this study is the first report on the association between anti-SSA and a lower prevalence of nephropathy. The correlations of specific autoantibodies and clinical manifestations could provide clues for physicians to predict organ damages in SLE patients. We suggest that a thorough screening of autoantibodies should be carried out when the diagnosis of SLE is established, and repeated echocardiography annually in SLE patients with anti-RNP or anti-SSA antibody should be performed.

  1. A study of HIV seropositivity with various clinical manifestation of herpes zoster among patients from Karnataka, India.

    Science.gov (United States)

    Naveen, Kikkeri Narayanashetty; Tophakane, R S; Hanumanthayya, Keloji; Pv, Bhagawat; Pai, Varadraj V

    2011-12-15

    To study the various clinical presentations of herpes zoster and to find out the proportion of HIV positivity in these patients. A time bound study was conducted from November 2004 to October 2005. All clinically diagnosed cases of herpes zoster were tested for HIV infection with ELISA and confirmed by Tridot and Coomb AID. Total numbers of 90 zoster cases were recorded. Mean duration of pre herpetic neuralgia was 2.134 (standard deviation=1.424, F=8.951, Psacral (6.66%) nerves. A substantial proportion, 34 (37.77%) out of 90 cases, were found to be HIV positive. Of these, 64.7 percent of the HIV seropositive herpes zoster patients belonged to the age group of 21-40 years. Out of 39 who had a risk of exposure to STDs and whose ages were less than 50 years, 31 (79.48%) tested positive for HIV infection. The occurrence of zoster in the young age group in patients who report a history of risk factors for HIV, may need testing. Herpes zoster serves as a clinical indicator of HIV seropositivity and one of the earliest manifestations.

  2. Clinical manifestations and outcome in Staphylococcus aureus endocarditis among injection drug users and nonaddicts: a prospective study of 74 patients

    Directory of Open Access Journals (Sweden)

    Ruotsalainen Eeva

    2006-09-01

    Full Text Available Abstract Background Endocarditis is a common complication in Staphylococcus aureus bacteremia (SAB. We compared risk factors, clinical manifestations, and outcome in a large, prospective cohort of patients with S. aureus endocarditis in injection drug users (IDUs and in nonaddicts. Methods Four hundred and thirty consecutive adult patients with SAB were prospectively followed up for 3 months. Definite or possible endocarditis by modified Duke criteria was found in 74 patients: 20 patients were IDUs and 54 nonaddicts. Results Endocarditis was more common in SAB among drug abusers (46% than in nonaddicts (14% (odds ratio [OR], 5.12; 95% confidence interval [CI], 2.65–9.91; P P P P = 0.03, and their SAB was more often community-acquired (95% vs 39%, P P P = 0.70. Arterial thromboembolic events and severe sepsis were also equally common in both groups. There was no difference in mortality between the groups at 7 days, but at 3 months it was lower among IDUs (10% compared with nonaddicts (39% (OR, 5.73; 95% CI, 1.20–27.25; P = 0.02. Conclusion S. aureus endocarditis in IDUs was associated with as high complication rates including extracardiac deep infections, thromboembolic events, or severe sepsis as in nonaddicts. Injection drug abuse in accordance with younger age and lack of underlying diseases were associated with lower mortality, but after adjusting by age and underlying diseases injection drug abuse was not significantly associated with mortality.

  3. dermatology cutaneous manifestations of hiv/aids: part i

    African Journals Online (AJOL)

    Enrique

    2004-11-01

    Nov 1, 2004 ... Human immunodeficiency virus (HIV) infection can lead to a variety of clinical cutaneous manifestations. These cutaneous disorders ... 1. Correlation between mean CD4 cell count and incidences of specific skin disorders in patients with HIV infection. Fig. 2. Morbilliform rash of acute seroconversion illness.

  4. Are the cutaneous manifestations in patients with primary antiphospholipid syndrome a marker for predicting lung manifestations?

    Science.gov (United States)

    Kontic, Milica; Stojanovich, Ljudmila; Mijailović-Ivković, Milena; Velinović, Mladen; Srnka, Jasminka; Zdravkovic, Marija

    2018-01-01

    The aim of this study was to investigate association between pulmonary and skin manifestations in a large group of patients with primary antiphospholipid syndrome (PAPS) as well as their connection with antiphospholipid antibodies. Our prospective study comprises of 390 patients with primary APS. Antiphospholipid antibody (aPL) analysis included detection of aCL (IgG/IgM), ß2GPI (IgG/IgM) and LA. Distinct pulmonary and skin associations were determined, as well as their associations with aPL. In PAPS patients the presence of LA was more common in PTE (p=0.005) and in pulmonary microthrombosis (p=0.003). We revealed statistical significance considering the presence of aCL IgM and pulmonary microthrombosis (p=0.05). Skin ulcerations correlated with positive titres aCL IgM and ß2 GPI IgM (p=0.03 and 0.04, respectively), while pseudovasculitis correlated with positive titres ß2 GPI IgM (p=0.02). PAPS patients were more more likely to develop pulmonary thromboembolisam if they had livedo reticularis (p=0.005), skin ulcerations (p=0.007), pseudovasculitic lesions (p=0.01), superficial cutaneous necrosis (p=0.005), and digital gangrene (p=0.02). Patients were also more prone to pulmonary microthrombosis if they already had livedo reticularis (p=0.03), skin ulcerations (p=0.007), pseudovasculitic lesions (p=0.05), superficial cutaneous necrosis (p=0.006), and digital gangrene (p=0.02). There is strong link between some pulmonary and skin manifestations in PAPS patients, suggesting complexity and evolutionary nature of APS. The presence of skin manifestations may be a high risk factor for several types of serious pulmonary manifestations in PAPS. Certain aPL types are associated with distinct pulmonary and skin manifestation, suggesting their predictive role.

  5. A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome

    Directory of Open Access Journals (Sweden)

    Kang Won Lee

    2015-12-01

    Full Text Available Hypothyroid myopathy is observed frequently and the resolution of the clinical manifestations of myopathy following thyroid hormone replacement is well known. However, a specific subtype of hypothyroid myopathy, Hoffmann's syndrome, characterized by increased muscular mass (pseudohypertrophy, proximal muscle weakness, muscle stiffness and cramps, is rarely reported. Herein, we describe a 34-year-old male who presented with proximal muscle weakness and non-pitting edema of the lower extremities. He initially visited the neurology department where he was suspected of having polymyositis. Additional laboratory evaluation revealed profound autoimmune hypothyroidism and elevated muscle enzymes including creatine kinase. The patient was started on levothyroxine treatment and, subsequently, clinical symptoms and biochemical parameters resolved with the treatment. The present case highlights that hypothyroidism should be considered in the differential diagnosis of musculoskeletal symptoms even in the absence of overt manifestations of hypothyroidism. To our knowledge, this is the first case reported in Korea.

  6. Neuropsychiatric Manifestations in a Patient with Panhypopituitarism

    Directory of Open Access Journals (Sweden)

    Oluwole Jegede

    2017-01-01

    Full Text Available We present a case of an incidental diagnosis of panhypopituitarism in a 68-year-old African American man admitted to our psychiatric inpatient unit with symptoms suggestive of schizophrenia. The case was unusual as a first-episode psychosis given the patient’s age. In the course of his admission, the patient’s clinical condition deteriorated culminating in a sudden altered mental status which prompted a transfer to the medical floors and further investigations. A head CT scan and a pituitary MRI revealed a near total resection of the pituitary while laboratory investigations revealed hyponatremia and a grossly low hormone profile. The progression of these events casts doubts on our admitting diagnosis as the primary cause of the patient’s symptoms. The patient’s clinical condition improved only when his endocrinopathy was treated with hormone replacement, fluids, and electrolyte correction in addition to antipsychotics. An inability to verify the patient’s psychiatric history and a remote history of pituitary resection several decades earlier, unknown to the treating team, added to the diagnostic conundrum. We revised the diagnosis to neuropsychiatric manifestations secondary to an organic brain syndrome due to a partial pituitary resection. The patient was discharged with no symptoms of psychosis, good insight, judgment, and good reality testing.

  7. Neuropsychiatric Manifestations in a Patient with Panhypopituitarism.

    Science.gov (United States)

    Jegede, Oluwole; Jeyakumar, Ajouka; Balakumar, Thyarapan; Raghu, Alyssa; Chang, Katherine I; Soewono, Katarina; Gustave, Mario; Jolayemi, Ayodeji

    2017-01-01

    We present a case of an incidental diagnosis of panhypopituitarism in a 68-year-old African American man admitted to our psychiatric inpatient unit with symptoms suggestive of schizophrenia. The case was unusual as a first-episode psychosis given the patient's age. In the course of his admission, the patient's clinical condition deteriorated culminating in a sudden altered mental status which prompted a transfer to the medical floors and further investigations. A head CT scan and a pituitary MRI revealed a near total resection of the pituitary while laboratory investigations revealed hyponatremia and a grossly low hormone profile. The progression of these events casts doubts on our admitting diagnosis as the primary cause of the patient's symptoms. The patient's clinical condition improved only when his endocrinopathy was treated with hormone replacement, fluids, and electrolyte correction in addition to antipsychotics. An inability to verify the patient's psychiatric history and a remote history of pituitary resection several decades earlier, unknown to the treating team, added to the diagnostic conundrum. We revised the diagnosis to neuropsychiatric manifestations secondary to an organic brain syndrome due to a partial pituitary resection. The patient was discharged with no symptoms of psychosis, good insight, judgment, and good reality testing.

  8. Serum Homocysteine Level in Parkinson’s Disease and Its Association with Duration, Cardinal Manifestation, and Severity of Disease

    Directory of Open Access Journals (Sweden)

    Payam Saadat

    2018-01-01

    Full Text Available Background and Purpose. Due to the high prevalence of Parkinson’s disease (PD in the elderly, a large financial burden is imposed on the families and health systems of countries in addition to the problems related to the mobility impairment caused by the disease for the patients. Studies on controversial issues in this disease are taken into consideration, and one of these cases is the role of serum homocysteine level in Parkinson’s patients. In this study, the serum level of homocysteine and its association with various variables in relation to this disease was compared with healthy individuals. Materials and Methods. In this study, 100 patients with PD and 100 healthy individuals as control group were investigated. Serum homocysteine level and demographic and clinical data were included in the checklist. Data were analyzed by SPSS version 23. In all tests, the significance level was below 0.05. Results. The mean level of serum homocysteine in case and control groups was 14.93 ± 8.30 and 11.52 ± 2.86 µmol/L, respectively (95% CI: 1.68; 5.14, P<0.001. In total patients, 85 had normal serum homocysteine level, while 15 had high serum homocysteine level. In controls, the homocysteine level was 98 and 2, respectively (P=0.002. In multivariate logistic regression analysis, serum homocysteine level higher than 20 µmol/L was accompanied by 8.64-fold in Parkinson’s disease involvement (95% CI: 1.92; 38.90, P=0.005. Conclusion. Increasing serum homocysteine level elevates the rate to having PD. Serum homocysteine levels did not have any relationship with the duration of the disease, type of cardinal manifestation, and the severity of Parkinson’s disease.

  9. Severe type 1 upgrading leprosy reaction in a renal transplant recipient: a paradoxical manifestation associated with deficiency of antigen-specific regulatory T-cells?

    Science.gov (United States)

    Vieira, Ana Paula; Trindade, Maria Angela Bianconcini; de Paula, Flávio Jota; Sakai-Valente, Neusa Yurico; Duarte, Alberto José da Silva; Lemos, Francine Brambate Carvalhinho; Benard, Gil

    2017-04-24

    Due to its chronic subclinical course and large spectrum of manifestations, leprosy often represents a diagnostic challenge. Even with proper anti-mycobacteria treatment, leprosy follow up remains challenging: almost half of leprosy patients may develop reaction episodes. Leprosy is an infrequent complication of solid organ transplant recipients. This case report illustrates the challenges in diagnosing and managing leprosy and its reactional states in a transplant recipient. A 53-year-old man presented 34 months after a successful renal transplantation a borderline-tuberculoid leprosy with signs of mild type 1 upgrading reaction (T1R). Cutaneous manifestations were atypical, and diagnosis was only made when granulomatous neuritis was found in a cutaneous biopsy. He was successfully treated with the WHO recommended multidrug therapy (MDT: rifampicin, dapsone and clofazimine). However he developed a severe T1R immediately after completion of the MDT but no signs of allograft rejection. T1R results from flare-ups of the host T-helper-1 cell-mediated immune response against Mycobacterium leprae antigens in patients with immunologically unstable, borderline forms of leprosy and has been considered an inflammatory syndrome in many aspects similar to the immune reconstitution inflammatory syndromes (IRS). The T1R was successfully treated by increasing the prednisone dose without modifying the other immunosuppressive drugs used for preventing allograft rejection. Immunological study revealed that the patient had a profound depletion of both in situ and circulating regulatory T-cells and lack of expansion of the Tregs upon M. leprae stimulation compared to T1R leprosy patients without iatrogenic immunosuppression. Our case report highlights that leprosy, especially in the transplant setting, requires a high degree of clinical suspicion and the contribution of histopathology. It also suggests that the development of upgrading inflammatory syndromes such as T1R can occur

  10. Determining triglyceride reductions needed for clinical impact in severe hypertriglyceridemia.

    Science.gov (United States)

    Christian, Jennifer B; Arondekar, Bhakti; Buysman, Erin K; Jacobson, Terry A; Snipes, Rose G; Horwitz, Ralph I

    2014-01-01

    Patients with severe hypertriglyceridemia have an increased risk of cardiovascular disease and pancreatitis. Target triglyceride levels associated with clinical benefit for patients with severe hypertriglyceridemia are not currently known. This study evaluates the association between lower follow-up triglyceride levels and incidence of clinical events for patients with severe hypertriglyceridemia. By using claims data from 2 large US healthcare databases, we conducted a retrospective cohort study and identified 41,210 adults with severe hypertriglyceridemia (triglycerides ≥ 500 mg/dL) between June 2001 and September 2010. The date of the first severe hypertriglyceridemia laboratory result was the index date. Patients were categorized into 1 of 5 triglyceride ranges (severe hypertriglyceridemia with follow-up triglyceride levels severe hypertriglyceridemia with follow-up triglyceride levels 200 to 299 mg/dL and 300 to 399 mg/dL (P severe hypertriglyceridemia with the lowest follow-up triglyceride levels. Copyright © 2014 Elsevier Inc. All rights reserved.

  11. Chronic urticaria in children: Etiologies, Clinical Manifestations, Diagnosis and Treatment

    Directory of Open Access Journals (Sweden)

    Javad Ghaffari

    2013-06-01

    Full Text Available Chronic urticaria is defined as a skin disease with central induration (wheal and erythema formation around it (flare that appears at least twice a week and remains at least for 6 weeks continually. The incidence of urticaria in children is about 0.1-3%. Most cases of chronic urticaria occur in children between 6-11 years. Autoimmune and allergy immaturity is one of the reasons of lower incidence of chronic urticaria in younger children. Quality of life impairment in children with urticaria has been known to be similar to diseases with severe atopic dermatitis, epilepsy, diabetes mellitus and asthma. There are several causes for chronic urticaria in children in different reports. In most of cases the known etiologic agents are varies from 21 to 83%. Overall, infectious causes of chronic urticaria in children are more common and obvious than other in adults .In most cases, the cause of chronic urticaria are idiopathic or autoimmune. Urticaria severity divided to mild, moderate and severe was based on the number of wheals and severity of pruritus. Diagnosis of chronic urticaria is based on a good history and physical examination. The treatment of chronic urticaria is a patient education that is to remove the triggering and aggravating agents, resolving and treating of the known disease and the use of various medicines based on the history and clinical findings. The first medical therapeutics lines in children are anti-histamines, beta-blocker H1 and new generation of non-sedating agents.

  12. Atypical manifestations of Epstein-Barr virus in children: a diagnostic challenge.

    Science.gov (United States)

    Bolis, Vasileios; Karadedos, Christos; Chiotis, Ioannis; Chaliasos, Nikolaos; Tsabouri, Sophia

    2016-01-01

    Clarify the frequency and the pathophysiological mechanisms of the rare manifestations of Epstein-Barr virus infection. Original research studies published in English between 1985 and 2015 were selected through a computer-assisted literature search (PubMed and Scopus). Computer searches used combinations of key words relating to "EBV infections" and "atypical manifestation." Epstein-Barr virus is a herpes virus responsible for a lifelong latent infection in almost every adult. The primary infection concerns mostly children and presents with the clinical syndrome of infectious mononucleosis. However, Epstein-Barr virus infection may exhibit numerous rare, atypical and threatening manifestations. It may cause secondary infections and various complications of the respiratory, cardiovascular, genitourinary, gastrointestinal, and nervous systems. Epstein-Barr virus also plays a significant role in pathogenesis of autoimmune diseases, allergies, and neoplasms, with Burkitt lymphoma as the main representative of the latter. The mechanisms of these manifestations are still unresolved. Therefore, the main suggestions are direct viral invasion and chronic immune response due to the reactivation of the latent state of the virus, or even various DNA mutations. Physicians should be cautious about uncommon presentations of the viral infection and consider EBV as a causative agent when they encounter similar clinical pictures. Copyright © 2016 Sociedade Brasileira de Pediatria. Published by Elsevier Editora Ltda. All rights reserved.

  13. Sporotrichosis in Rio de Janeiro, Brazil: Sporothrix brasiliensis is associated with atypical clinical presentations.

    Science.gov (United States)

    Almeida-Paes, Rodrigo; de Oliveira, Manoel Marques Evangelista; Freitas, Dayvison Francis Saraiva; do Valle, Antônio Carlos Francesconi; Zancopé-Oliveira, Rosely Maria; Gutierrez-Galhardo, Maria Clara

    2014-09-01

    There have been several recent changes in the taxonomy of Sporothrix schenckii as well as new observations regarding the clinical aspects of sporotrichosis. In this study, we determined the identification of the Sporothrix species associated with both classic and unusual clinical aspects of sporotrichosis observed in the endemic area of sporotrichosis in Rio de Janeiro, Brazil. To verify whether S. brasiliensis is associated with clinical manifestations of sporotrichosis, a cross-sectional study was performed in which Sporothrix isolates from 50 patients with different clinical manifestations were analyzed and their isolates were studied by phenotypic and genotypic methods. Data from these patients revealed a distinct clinical picture and therapeutic response in infections caused by Sporothrix brasiliensis (n = 45) compared to patients with S. schenckii sensu stricto (n = 5). S. brasiliensis was associated with disseminated cutaneous infection without underlying disease, hypersensitivity reactions, and mucosal infection, whereas patients with S. schenckii presented with less severe and more often localized disease, similar to the majority of previously described sporotrichosis cases. Interestingly, S. brasiliensis-infected patients overall required shorter durations of itraconazole (median 16 weeks) compared to the individuals with S. schenckii (median 24 weeks). These findings suggest that Sporothrix species are linked to different clinical manifestations of sporotrichosis and that S. brasiliensis is effectively treated with oral itraconazole.

  14. Pulmonary manifestations from systemic vasculitides

    International Nuclear Information System (INIS)

    Reuter, M.; Both, M.; Schnabel, A.

    2007-01-01

    Pulmonary vasculitides predominantly involve the small arterioles, capillaries and venules and include Wegener's granulomatosis, microscopic polyangiitis and the Churg-Strauss syndrome. Takayasu's arteriitis is a large vessel disease and may affect the main pulmonary arteries causing stenoses and occlusions. Knowledge of the natural course of disease and of clinical manifestations of pulmonary disease is helpful for an understanding of imaging findings. For this reason this article gives an overview not only of radiologic findings in chest X-ray and high resolution CT of the lungs but as well of clinical aspects of pulmonary vasculitides. Next to determination of disease extension the determination of disease activity is in the foreground of diagnostic imaging in vasculitides. Within this context principals of immunosuppressive therapy will be recognized. (orig.)

  15. Imaging of tuberculosis. Pt. 2. Abdominal manifestations in 112 patients

    Energy Technology Data Exchange (ETDEWEB)

    Lundstedt, C. [Dept. of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia); Nyman, R. [Dept. of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia); Brismar, J. [Dept. of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia); Hugosson, C. [Dept. of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia); Kagevi, I. [Dept. of Diagnostic Radiology, King Faisal Specialist Hospital and Research Centre, Riyadh (Saudi Arabia)

    1996-07-01

    Purpose: To describe the radiological findings of tuberculosis (TB) of the abdomen as reflected at our hospital. Material and Methods: The radiological files of 503 patients (referred to our institution mainly because of a clinical suspicion of malignancy, and found to have culture- or biopsy-proven TB) were reviewed in order to analyze the spectrum of the TB manifestations in this group of patients. Results: Abdominal manifestations were found in 112 patients, in 1/3 abdominal disease was the only evidence of TB. More than half of the patients also had chest TB. The most common abdominal TB manifestations were peritonitis and lymph node enlargement, each occurring in about 1/3 of the patients. Also 1/3 had genitourinary TB manifestations. About 1/5 had TB of the liver, spleen or pancreas or in the gastrointestinal tract, respectively. Multiple organ involvement was common. Conclusion: The need to consider TB in the differential diagnosis in patients with obscure abdominal symptoms, especially with multiple organ involvement, is stressed. (orig.).

  16. Imaging of tuberculosis. Pt. 2. Abdominal manifestations in 112 patients

    International Nuclear Information System (INIS)

    Lundstedt, C.; Nyman, R.; Brismar, J.; Hugosson, C.; Kagevi, I.

    1996-01-01

    Purpose: To describe the radiological findings of tuberculosis (TB) of the abdomen as reflected at our hospital. Material and Methods: The radiological files of 503 patients (referred to our institution mainly because of a clinical suspicion of malignancy, and found to have culture- or biopsy-proven TB) were reviewed in order to analyze the spectrum of the TB manifestations in this group of patients. Results: Abdominal manifestations were found in 112 patients, in 1/3 abdominal disease was the only evidence of TB. More than half of the patients also had chest TB. The most common abdominal TB manifestations were peritonitis and lymph node enlargement, each occurring in about 1/3 of the patients. Also 1/3 had genitourinary TB manifestations. About 1/5 had TB of the liver, spleen or pancreas or in the gastrointestinal tract, respectively. Multiple organ involvement was common. Conclusion: The need to consider TB in the differential diagnosis in patients with obscure abdominal symptoms, especially with multiple organ involvement, is stressed. (orig.)

  17. [Otorhinolaryngological manifestations in patients with Behçet disease].

    Science.gov (United States)

    Morales-Angulo, Carmelo; Vergara Pastrana, Sandra; Obeso-Agüera, Sergio; Acle, Leticia; González-Gay, Miguel Ángel

    2014-01-01

    Behçet disease (BD) is a systemic immune-mediated vasculitis of unknown origin characterised by recurrent orogenital ulceration, ocular inflammation and skin lesions. The aim of our study was to identify ear, nose and throat (ENT) manifestations associated with BD. Retrospective review of the medical records of all patients diagnosed with BD who attended a tertiary public hospital in Cantabria (Spain) over a period of 22 years. Clinical manifestations, in particular those concerning ENT, were retrieved from medical records. A medical literature review of ENT manifestations was conducted. Thirty-three patients (age range: 17-64 years) were included in the study. Most of them presented oral ulcers (97%). Eight patients (24%) presented oropharyngeal ulcers and 5 patients (15%) experienced audiovestibular symptoms (high frequency sensorineural hearing loss, vertigo and bilateral vestibular hypofunction). One patient had symptoms compatible with vestibular neuronitis as the presentation manifestation of Neuro-Behçet. In 4 patients (12%) the presence of odynophagia secondary to the presence of oropharyngeal lesions, initially interpreted as acute or recurrent tonsillitis, was the first manifestation of the disease, alone or associated with cutaneous or ocular lesions. In addition to the characteristic oral ulcers present in most patients with BD, ulcers in the oropharynx, occasionally interpreted as acute pharyngitis, are also common in these patients. Audiovestibular manifestations frequently appear during the course of the disease and may be the first symptom of central nervous system involvement. Copyright © 2013 Elsevier España, S.L. All rights reserved.

  18. Gingival Anaplastic Large-Cell Lymphoma Mimicking Hyperplastic Benignancy as the First Clinical Manifestation of AIDS: A Case Report and Review of the Literature

    Directory of Open Access Journals (Sweden)

    Rafaela Elvira Rozza-de-Menezes

    2013-01-01

    Full Text Available This paper presents an unusual case of gingival ALCL, which mimicked a benign hyperplastic lesion that occurred in a 57-year-old white man representing the first clinical manifestation of acquired immunodeficiency syndrome (AIDS. The patient was referred to the Dental Clinic of PUCPR complaining of a lobulated nodule on the gingiva of his upper central incisors. The presence of advanced chronic periodontitis and dental plaque raised suspicion for a benignancy. An excisional biopsy was performed, and large pleomorphic cells with an abundant cytoplasm, sometimes containing prominent nucleoli and “Hallmark” cells, were observed through hematoxylin and eosin staining. The tumor cells showed strong CD30 expression, EMA, Ki-67, and LCA, and negative stain for p80NPM/ALK, CKAE1/AE3, CD20, CD3, CD56, and CD15. The final diagnosis was ALCL (ALK-negative. Further laboratory tests revealed positivity for human immunodeficiency virus (HIV. The patient was submitted to chemotherapy, but four months after diagnosis, the patient died due to pneumonia and respiratory failure. Oral anaplastic large-cell lymphoma (ALCL is a rare disorder. Only 5 cases involving the gingiva have been reported, and to our knowledge, this is the first case reported of the ALCL, which mimicked a hyperplastic benignancy as the first clinical manifestation of AIDS.

  19. Succinate-based preparation alleviates manifestations of the climacteric syndrome in women.

    Science.gov (United States)

    Peskov, A B; Maevskii, E I; Uchitel', M L; Sakharova, N Yu; Vize-Khripunova, M A

    2005-09-01

    Clinical placebo-controlled study of Enerlit-Clima (bioactive succinate-based food additive) a showed positive effect of the preparation on general clinical and psychoemotional manifestations of the climacteric syndrome. A trend to an increase in estradiol level in early pathological climacteric and normalization of the endometrial status were observed.

  20. Clinical manifestation and aetiology of a genital associated disease in Olive baboons (Papio hamadryas anubis) at Lake Manyara National Park, Tanzania

    OpenAIRE

    Knauf, Sascha

    2011-01-01

    The aim of the study was to investigate a genitally associated disease and to describe its clinical manifestation and aetiology in baboons at Lake Manyara National Park in the United Republic of Tanzania. Lake Manyara National Park is located in the northern part of the country, 160 km northwest of the Mt. Kilimanjaro. It is among the smallest protected areas, but belongs to the extended ecosystem of the Serengeti, Ngorongoro Conservation Area, Lake Manyara and Tarangire National Park. The...

  1. Neurologic Manifestations of Vitamin B Deficiency after Bariatric Surgery.

    Science.gov (United States)

    Punchai, Suriya; Hanipah, Zubaidah Nor; Meister, Katherine M; Schauer, Philip R; Brethauer, Stacy A; Aminian, Ali

    2017-08-01

    The aim of this study was to assess the incidence, clinical presentation, and outcomes of neurologic disorders secondary to vitamin B deficiencies following bariatric surgery. Patients at a single academic institution who underwent bariatric surgery and developed neurologic complications secondary to low levels of vitamins B1, B2, B6, and B12 between the years 2004 and 2015 were studied. In total, 47 (0.7%) bariatric surgical patients (Roux-en-Y gastric bypass n = 36, sleeve gastrectomy n = 9, and duodenal switch n = 2) developed neurologic manifestations secondary to vitamin B deficiencies. Eleven (23%) patients developed postoperative anatomical complications contributed to poor oral intake. Median duration to onset of neurologic manifestation following surgery was 12 months (IQR, 5-32). Vitamin deficiencies reported in the cohort included B1 (n = 30), B2 (n = 1), B6 (n = 12), and B12 (n = 12) deficiency. The most common manifestations were paresthesia (n = 31), muscle weakness (n = 15), abnormal gait (n = 11), and polyneuropathy (n = 7). Four patients were diagnosed with Wernicke-Korsakoff syndrome (WKS) which was developed after gastric bypass (n = 3) and sleeve gastrectomy (n = 1). Seven patients required readmission for management of severe vitamin B deficiencies. Overall, resolution of neurologic symptoms with nutritional interventions and pharmacotherapy was noted in 40 patients (85%). The WKS was not reversible, and all four patients had residual mild ataxia and nystagmus at the last follow-up time. Nutritional neurologic disorders secondary to vitamin B deficiency are relatively uncommon after bariatric surgery. While neurologic disorders are reversible in most patients (85%) with vitamin replacements, persistent residual neurologic symptoms are common in patients with WKS.

  2. [Atypical manifestations in familial type 1 Waardenburg syndrome].

    Science.gov (United States)

    Sans, B; Calvas, P; Bazex, J

    1998-01-01

    Waardenburg syndrome is an uncommon genetic disorder. Four clinical types are recognized. Three responsible genes have been identified (PAX 3: for type I syndrome, MITF and EDN3 for types II and IV respectively). We report the case of a patient with Waardenburg type I morphotype who had atypical neurological manifestations. Decisive elements for diagnosis were the presence of Waardenburg syndrome in the family and, in affected kin, a mutation causing a shift in PAX 3 gene reading. This case confirms the variability of Waardenburg signs within one family. The association of unusual neurological manifestations in the proband suggested that Vogt Koyanagi Harada disease may have been associated and may show some relationship with familial Waardenburg syndrome.

  3. Hyperthyroidism as a clinical manifestation of a embryonal carcinoma of the testis.

    Science.gov (United States)

    Arrabal-Polo, M A; Jimenez-Pacheco, A; Arrabal-Martin, M; Moreno-Jimenez, J; Gutierrez-Tejero, F; Galisteo-Moya, R; Zuluaga-Gomez, A

    2012-01-01

    This case report describes a case of hyperthyroidism as manifestation of an embryonal carcinoma, and illustrates the causes that led to it. The case describes a 33-year-old male patient who complained of chest pain, palpitations, mild dyspnoea, and weight loss. Blood analysis reveals high levels of human chorionic gonadotropin (833818 mlU/ml), T3 (16.90 pg/ml), and T4 (7.77 ng/dl), as well as a fall of TSH (0.01 ulU/ml). Physical examination and imaging procedures confirm the occurrence of a left testicular tumour associated with numerous lung, hepatic and retroperitoneal metastases. Treatment with carbimazol and propanolol is established to manage hyperthyroidism, and an urgent orchiectomy is performed; the histologic diagnosis confirms an embryonal carcinoma (organoid type), but the patient died unexpectedly 24 hours later after having suffered sudden dyspnoea, tachypnoea, and tachyarrhythmia. Hyperthyroidism is a rare manifestation of a testicular tumour that should be borne in mind with regard to the patient's symptomatology and HCG levels.

  4. Primary hyperparathyroidism as the first clinical manifestation of multiple endocrine neoplasia type 2A in a 5-year-old child.

    Science.gov (United States)

    Magalhães, Patrícia Künzle Ribeiro; Antonini, Sonir Roberto Rauber; de Paula, Francisco José Albuquerque; de Freitas, Luiz Carlos Conti; Maciel, Léa Maria Zanini

    2011-05-01

    Primary hyperparathyroidism occurs in only 10%-30% of patients with multiple endocrine neoplasia type 2A (MEN2A), rarely as the sole clinical manifestation, and is usually diagnosed after the third decade of life. A 5-year-old girl was referred for prophylactic thyroidectomy as she carried the p.C634R RET mutation. She was clinically asymptomatic, with a normally palpable thyroid and with the cervical region free of lymphadenopathy or other nodules. Preoperative tests revealed hypercalcemia associated with elevation of parathyroid hormone (PTH) (calcium = 11.2 mg/dL, calcium ion = 1.48 mmol/L, phosphorus = 4.0 mg/dL, alkaline phosphatase = 625 U/L, parathyroid hormone (PTH) PTH = 998 pg/mL). A thyroid ultrasound was normal and parathyroid scintigraphy with (99m)Tc-Sestamibi revealed an area of radioconcentration in the upper half of the left thyroid lobe suggesting hyperfunctioning parathyroid tissue. She underwent total thyroidectomy and parathyroidectomy and developed hypocalcemia. The anatomopathological examination showed no histopathological changes in the thyroid tissue and an adenoma of the parathyroid gland, confirming the diagnosis of hyperparathyroidism. Primary hyperparathyroidism can be a precocious manifestation of MEN2A. This case report highlights that asymptomatic hypercalcemia should be scrutinized in children related to patients with MEN2A who carry a mutation in the RET proto-oncogene, especially mutations in the codon 634, before the currently recommended age of 8 years.

  5. Oral and systemic manifestations, and dental management of a pediatric patient with Tetralogy of Fallot. A case report.

    Directory of Open Access Journals (Sweden)

    Carmen Ayala

    2016-03-01

    Full Text Available Introduction: Tetralogy of Fallot is a congenital heart disease and the most common cyanotic heart defect in children. It is clinically characterized by a ventricular septal defect, pulmonary stenosis, overriding aorta over ventricular septal defect and right ventricular hypertrophy. There is little or no information about the oral manifestations in patients with this pathology. A report and discussion of a pediatric patient diagnosed with Tetralogy of Fallot, its clinical manifestations, oral findings and dental management are presented. Case Report: A four-year-old male patient diagnosed with Tetralogy of Fallot and epileptic attacks. The patient has deciduous teeth with many severe early childhood caries, stomatitis and cyanotic mucous membranes, root fragments, periapical abscess and noticeable enamel hypoplasia. Conclusions: In agreement with other authors, children with systemic diseases such as Tetralogy of Fallot have a higher rate of caries, poor oral hygiene, high susceptibility to other infections and bacterial endocarditis, cyanotic mucous membranes and enamel hypoplasia. Primary prevention is critical, proper dental hygiene, regular dental check-ups and the use of antibiotic prophylaxis are particularly important, especially in high-risk patients.

  6. Quality of life, fatigue and mental health in patients with the m.3243A > G mutation and its correlates with genetic characteristics and disease manifestation.

    Science.gov (United States)

    Verhaak, Christianne; de Laat, Paul; Koene, Saskia; Tibosch, Marijke; Rodenburg, Richard; de Groot, Imelda; Knoop, Hans; Janssen, Mirian; Smeitink, Jan

    2016-03-18

    Mitochondrial disorders belong to the most prevalent inherited metabolic diseases with the m.3243A > G mutation reflecting being one of the most common mutations in mitochondrial DNA. Previous studies showed little relationship between mitochondrial genetics and disease manifestation. Relationship between genotype and disease manifestation with patient reported quality of life and other patient reported outcomes is still unexplored. Seventy-two out of the 122 invited adult patients with m.3243A > G mutation completed online standardized questionnaires on quality of life, functional impairment, fatigue and mental health as assessed by the RAND-SF36, the Sickness Impact Profile (SIP), the Checklist Individual Strength (CIS) and the Hospital Anxiety and Depression scale (HADS). Data were related to clinical manifestation reflected by the Newcastle Mitochondrial Disease Adult Scale (NMDAS) score and heteroplasmy levels of the mutation in urine epithelial cells. Patients reported impaired quality of life. Sixty percent showed severe levels of fatigue, and 37% showed clinical relevant mental health problems, which was significantly more than healthy norms. These patient reported health outcomes showed negligible relationship with levels of heteroplasmy (r = mental health problems, are only partly reflected by clinical assessments. In order to support patients more effectively, integration of patient reported outcomes, alongside symptoms of their disease, in clinical practice is warranted.

  7. Multiple sclerosis with predominant, severe cognitive impairment

    Science.gov (United States)

    Staff, Nathan P.; Lucchinetti, Claudia F.; Keegan, B. Mark

    2009-01-01

    Objective To describe the characteristics of multiple sclerosis (MS) presenting with severe cognitive impairment as its primary disabling manifestation. Design Retrospective case series. Setting Tertiary referral center. Patients Patients were identified through the Mayo Clinic data retrieval system (1996–2008) with definite MS (McDonald criteria) and severe cognitive impairment as their primary neurological symptom without accompanying significant MS-related impairment or alternative diagnosis for cognitive dysfunction. Twenty-three patients meeting inclusion criteria were compared regarding demographics, clinical course and radiological features. Main Outcome Measures Demographic, clinical, and radiological characteristics of the disease. Results Twelve patients were men. The median age of the first clinical symptom suggestive of CNS demyelination was 33 years, and severe MS-related cognitive impairment developed at a median of 39 years. Cognitive impairment could be dichotomized as subacute fulminant (n=9) or chronic progressive (n=14) in presentation, which corresponded to subsequent relapsing or progressive MS courses. Study patients commonly exhibited psychiatric (65%), mild cerebellar (57%) and cortical symptoms and signs (e.g. seizure, aphasia, apraxia) (39%). Fourteen of 21 (67%), where documented, smoked cigarettes. Brain MRI demonstrated diffuse cerebral atrophy in 16 and gadolinium enhancing lesions in 11. Asymptomatic spinal cord MRI lesions were present in 12 of 16 patients (75%). Immunomodulatory therapies were generally ineffective in improving these patients. Conclusions We describe patients with MS whose clinical phenotype is characterized by severe cognitive dysfunction and prominent cortical and psychiatric signs presenting as a subacute fulminant or chronic progressive clinical course. Cigarette smokers may be over represented in this phenotype. PMID:19752304

  8. Clinical indicators for severe prognosis of scrub typhus

    Directory of Open Access Journals (Sweden)

    Sriwongpan P

    2013-10-01

    Full Text Available Pamornsri Sriwongpan,1,2 Pornsuda Krittigamas,3 Pacharee Kantipong,4 Naowarat Kunyanone,5 Jayanton Patumanond,1 Sirianong Namwongprom1,61Clinical Epidemiology Program, Faculty of Medicine, Chiang Mai University, Chiang Mai, Thailand; 2Department of Social Medicine, Chiang Rai Prachanukroh Hospital, Chiang Rai, Thailand; 3Department of General Pediatrics, Nakornping Hospital, Chiang Mai, Thailand; 4Department of Internal Medicine, 5Department of Medical Technology, Chiang Rai Prachanukroh Hospital, Chiang Rai, Thailand; 6Department of Radiology, Faculty of Medicine, Chiang Mai University, Chiang Mai, ThailandBackground: The study explored clinical risk characteristics that may be used to forecast scrub typhus severity under routine clinical practices.Methods: Retrospective data were collected from patients registered at two university-affiliated tertiary care hospitals in the north of Thailand, from 2004 to 2010. Key information was retrieved from in-patient records, out patient cards, laboratory reports and registers. Patients were classified into three severity groups: nonsevere, severe (those with at least one organ involvement, and deceased. Prognostic characteristics for scrub typhus severity were analyzed by a multivariable ordinal continuation ratio regression.Results: A total of 526 patients were classified into nonsevere (n = 357, severe (n = 100, and deceased (n = 69. The significant multivariable prognostic characteristics for scrub typhus severity were increased body temperature (odds ratio [OR] = 0.58, 95% confidence interval [CI] = 0.45–0.74, P < 0.001, increased pulse rate (OR = 1.03, 95% CI = 1.01–1.05, P < 0.001, presence of crepitation (OR = 3.25, 95% CI = 1.52–6.96, P = 0.001, increased percentage of lymphocytes (OR = 0.97, 95% CI = 0.95–0.98, P = 0.001, increased aspartate aminotransferase (every 10 IU/L (OR = 1.04, 95% CI = 1.02–1.06, P < 0.001, increased serum albumin (OR = 0.47, 95% CI = 0.27–0.80, P = 0

  9. Unusual Manifestation of Cutaneous Sarcoidosis: A Case Report of Morpheaform Sarcoidosis

    Directory of Open Access Journals (Sweden)

    Attiyeh Vasaghi

    2012-09-01

    Full Text Available Sarcoidosis is multi organ disease with cutaneous manifestation in 20%-35% patients. Cutaneous sarcoidosis has variable manifestations that make it difficult to diagnose. So clinical, histopathologic and laboratory evaluation is needed for diagnosis. Most of cutaneous lesions presents as nodul, maculopapule and plaque. Morpheaform lesion is a rare presentation of cutaneous sarcoidosis. This case had multiple indurated scaly plaques resemble morphea with granulomatous pattern in histopathologic examination. The patient responded to prednisolone in addition to hydroxychloroquine.

  10. Cognitive impairment, clinical severity and MRI changes in MELAS syndrome.

    Science.gov (United States)

    Kraya, Torsten; Neumann, Lena; Paelecke-Habermann, Yvonne; Deschauer, Marcus; Stoevesandt, Dietrich; Zierz, Stephan; Watzke, Stefan

    2017-12-29

    To examine clinical severity, cognitive impairment, and MRI changes in patients with MELAS syndrome. Cognitive-mnestic functions, brain MRI (lesion load, cella media index) and clinical severity of ten patients with MELAS syndrome were examined. All patients carried the m.3243A>G mutation. The detailed neuropsychological assessment revealed cognitive deficits in attention, executive function, visuoperception, and -construction. There were significant correlations between these cognitive changes, lesion load in MRI, disturbances in everyday life (clinical scale), and high scores in NMDAS. Patients with MELAS syndrome showed no global neuropsychological deficit, but rather distinct cognitive deficits. Copyright © 2018 Elsevier B.V. and Mitochondria Research Society. All rights reserved.

  11. Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

    Energy Technology Data Exchange (ETDEWEB)

    Farmakis, Shannon G.; Khanna, Geetika [Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Han, Min; White, Frances [Washington University School of Medicine, Department of Pathology and Immunology, St. Louis, MO (United States)

    2014-10-15

    Arterial vasculopathy is a well-recognized but uncommon manifestation of neurofibromatosis type 1 (NF-1). It can manifest as stenoses, aneurysms or arteriovenous malformations. NF-1 vasculopathy typically involves the aorta, visceral arteries or carotid-vertebral circulation. Aortic and visceral vasculopathy typically presents as stenotic lesions, while aneurysms have been reported primarily in the subclavian/vertebral arteries. Aneurysms of the peripheral/extremity arteries are an extremely rare complication of NF-1 that may present as a mass or spontaneous rupture. We present the case of a teenage boy with an arm mass secondary to an aneurysm. We hope this case will increase recognition of the variable clinical manifestations of NF-1 vasculopathy among radiologists. (orig.)

  12. Clinical and haematological features of stress induced Babesiusis in ...

    African Journals Online (AJOL)

    Studies on actively stressedB. equi infected premuned indigenous polo horses, manifested severe clinical syndromes characterised by partial anorexia, hyperthermia, lethergy, extreme weakness, marked dehydration, ecchymotic third eye lid, pale mucous membranes, sternal recumbency and coma. Some horses showed ...

  13. Noise Maps for Quantitative and Clinical Severity Towards Long-Term ECG Monitoring.

    Science.gov (United States)

    Everss-Villalba, Estrella; Melgarejo-Meseguer, Francisco Manuel; Blanco-Velasco, Manuel; Gimeno-Blanes, Francisco Javier; Sala-Pla, Salvador; Rojo-Álvarez, José Luis; García-Alberola, Arcadi

    2017-10-25

    Noise and artifacts are inherent contaminating components and are particularly present in Holter electrocardiogram (ECG) monitoring. The presence of noise is even more significant in long-term monitoring (LTM) recordings, as these are collected for several days in patients following their daily activities; hence, strong artifact components can temporarily impair the clinical measurements from the LTM recordings. Traditionally, the noise presence has been dealt with as a problem of non-desirable component removal by means of several quantitative signal metrics such as the signal-to-noise ratio (SNR), but current systems do not provide any information about the true impact of noise on the ECG clinical evaluation. As a first step towards an alternative to classical approaches, this work assesses the ECG quality under the assumption that an ECG has good quality when it is clinically interpretable. Therefore, our hypotheses are that it is possible (a) to create a clinical severity score for the effect of the noise on the ECG, (b) to characterize its consistency in terms of its temporal and statistical distribution, and (c) to use it for signal quality evaluation in LTM scenarios. For this purpose, a database of external event recorder (EER) signals is assembled and labeled from a clinical point of view for its use as the gold standard of noise severity categorization. These devices are assumed to capture those signal segments more prone to be corrupted with noise during long-term periods. Then, the ECG noise is characterized through the comparison of these clinical severity criteria with conventional quantitative metrics taken from traditional noise-removal approaches, and noise maps are proposed as a novel representation tool to achieve this comparison. Our results showed that neither of the benchmarked quantitative noise measurement criteria represent an accurate enough estimation of the clinical severity of the noise. A case study of long-term ECG is reported

  14. The clinical manifestations of HIV infections in adults presenting to Khartoum state and the incidence of pulmonary tuberculosis among them

    Energy Technology Data Exchange (ETDEWEB)

    Ahmed, Amir Abd Elraouf [Faculty of Medicine, University of Khartoum, Khartoum (Sudan)

    1998-10-01

    This is a prospective study of 60 patients with HIV infection admitted to medical wards at Khartoum Teaching Hospital, Omdurman Teaching Hospital, Tropical Diseases' Hospital in Omdurman, Chest Teaching Hospital in Khartoum State during the period June 1997 to June 1998, to study the clinical manifestations of HIV, the possible mode of transmission and the incidence of tuberculosis among them. The population of the study were those with HIV infection of both sexes above 15 years of age. Data was collected using a questionnaire detailing the medical history, through medical examination and laboratory investigations.

  15. The clinical manifestations of HIV infections in adults presenting to Khartoum state and the incidence of pulmonary tuberculosis among them

    International Nuclear Information System (INIS)

    Ahmed, Amir Abd Elraouf

    1998-10-01

    This is a prospective study of 60 patients with HIV infection admitted to medical wards at Khartoum Teaching Hospital, Omdurman Teaching Hospital, Tropical Diseases' Hospital in Omdurman, Chest Teaching Hospital in Khartoum State during the period June 1997 to June 1998, to study the clinical manifestations of HIV, the possible mode of transmission and the incidence of tuberculosis among them. The population of the study were those with HIV infection of both sexes above 15 years of age. Data was collected using a questionnaire detailing the medical history, through medical examination and laboratory investigations

  16. [Manifestation of first branchial anomaly:56 cases reportrhinitis].

    Science.gov (United States)

    Zhang, B; Chen, L S; Huang, S L; Liang, L; Wu, P N; Zhang, S Y; L, Z M; Liang, L

    2016-09-05

    Objective: To sum up and conclude manifestation of congenital first branchial anomaly(CFBCA). Method: The clinical data of 56 patients from 2005 to 2015 in our hospital were retrospective reviewed. Result: Manifestation:mass without pain(26.8%),repeated sore and discharge(71.4%),otological symptom(external auditory discharge、hearing loss,28.6%).Eleven cases bacterial sample showed positive result,and most of them show pseudomonas aeruginosa and staphylococcus aureus.Auricular endoscopy typically performed stricture of external auditory canal,cholesteatoma samples accumulated in ear canal,fistula at the conjunction of the bone and cartilage and tympanic membranous attachment.Typical performance of CT(MRI)was that there were cystic,lobulated or tubular abnormal shadow related with ear canal in Pochet's triangle area whose cyst wall or pipe wall could been enhanced in enhanced CT(MRI) scans,and part of that could be connected with skin.The statistical difference between type Oslen and Work and clinical characteristics( P <0.01),and the relationship between type Oslen and Work( P <0.01).Most of Work Ⅰ were cyst type,and these two type often had no infected symptom.Most of them were young patients.Most of Work Ⅱ were sinus and fistula type ,and these two type often had infected symptom.Most of them were teenagers.Part of patients of type Work Ⅱ showed tympanic membranous attachment. Conclusion: CFBCA was rare,and it is more common in young patients and often in left part.It always performed as mass without pain、repeated sore and discharge、external auditory discharge.Most of Work Ⅰ were cyst type,and these two type often had no infected symptom and most of them were young patients .Most of Work Ⅱ were sinus and fistula type,and these two type often had infected symptom and most of them were teenagers.Auricular endoscopy,CT,MRI could help make diagnose.Doctors clinical need to differentiate it with related diseases according to different manifestations

  17. Influence of weight loss on the clinical manifestations of osteoarthritis of the knee-joints.

    Directory of Open Access Journals (Sweden)

    Inna Vladimirovna Solov'eva

    2014-10-01

    Full Text Available Obesity consistently associated with the development of a number of chronic diseases, leading to a decrease in quality of life, disability and death. The article examines the connection between obesity and disease of the musculoskeletal system, describes the mechanisms by means of which obesity leads to the development of osteoarthritis. It is evident that reduction of body mass can slow the progression of osteoporosis. The own experience of non-pharmacological and pharmacological treatment of obesity with the use of orlistat in 50 obese patients with osteoarthritis of the knee II–III stage is presented. Treatment has resulted in a decrease in body weight, waist circumference, accompanied by a decrease in symptoms osteoarthritis among all the patients. Our results showed that the addition of orlistat to standard osteoarthritis scheme leads to significant reduction in weight and reduction of clinical manifestations of osteoarthritis. According to the above, the drugs that have impact on weight loss, should be included in the treatment regimen of patients with osteoarthritis and obesity.

  18. CT manifestations of liver abscess

    International Nuclear Information System (INIS)

    Yan Jianfeng; Peng Yongjun

    2006-01-01

    Objective: To study CT findings of hepatic abscess. Methods: CT findings and clinical materials of 38 patients with liver abscess verified by aspiration were retrospectively viewed. All patients were examined by non-enhanced and contrast enhanced CT. Results: In 25 cases, inhomogeneous hypodense lesions with unclear demarcation were found on non-enhanced CT. On contrast enhanced CT scan, target or cluster enhancement was found Additionally, air was found within some lesions. In the rest 13 cases with early stage liver abscess, no typical sign was found on non-enhanced CT, while rosette sign and continued enhancement sign were demonstrated after the contrast agent was given. Conclusion: Various CT findings are found in different stages of liver abscess. The diagnosis and differential diagnosis should be based on CT manifestations and clinical history as well. (authors)

  19. Analysis of asthenic phenomens in patients with type 2nd diabetes mellitus in the clinical and psychological aspect

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    O. V. Tkachenko

    2017-03-01

    Full Text Available Aim – to analyze the peculiarities of asthenic manifestations in patients with type 2nd diabetes mellitus (DM in clinical and psychological perspective. Materials and methods. We examined in 543 patients with type 2nd DM. The first clinical group (CG-1 was 57 patients with type 2nd DM of mild severity; the average age in the group was (51,80±1,28 years. The second clinical group (CG-2 made up of 312 patients with type 2nd DM, moderate severity; mean age in the group was (55,10±1,12 years. The third clinical group (CG-3 included 174 patients with type 2nd DM, severe degree of severity; the average age in the group was (61.80±0,85 years. Research methods: clinical-anamnestic, clinical-psychopathological, statistical. Results. The marked prevalence of asthenic syndrome in patients wath type 2nd DM 52,30%, which is almost half among all surveyed type 2nd DM. Discovered the direct correlation of asthenic symptoms with the severity of the type 2nd DM (rs = 0.4033, p<0.01. The factors in the risk of asthenic syndrome in patients with type 2nd DM was installed, among them is dominated by a moderate and severe degree of type 2nd DM, combined with obesity 2 degrees, DEP II degree, ischemic heart disease, heart failure, degenerative dystrophic lesions of the spine. Established that there is a direct correlation asthenic syndrome to the severity of type 2nd DM, as well as the accompanying somatic pathology. Established dominance in CG-1 and CG-2 component fatigue "mental fatigue" and CG-3 component "physical fatigue". Conclusions. Features of asthenic manifestations in patients with type 2nd DM in clinical and psychological perspective were investigated. The detection rate of asthenic manifestations among patients with type 2nd DM and the factors for their amplification were established. The organic etiology of asthenic manifestations have been proven; presentation about the stages of development of asthenic symptoms in patients with type 2nd DM were

  20. The radiological manifestations of sickle cell disease

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    Madani, G.; Papadopoulou, A.M.; Holloway, B.; Robins, A.; Davis, J.; Murray, D.

    2007-01-01

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD

  1. The radiological manifestations of sickle cell disease

    Energy Technology Data Exchange (ETDEWEB)

    Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

    2007-06-15

    Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

  2. Myelofibrosis-associated complications: pathogenesis, clinical manifestations, and effects on outcomes

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    Mughal TI

    2014-01-01

    Full Text Available Tariq I Mughal,1 Kris Vaddi,2 Nicholas J Sarlis,2 Srdan Verstovsek31Tufts University School of Medicine, Boston, MA, 2Incyte Corporation, Wilmington, DE, 3Department of Leukemia, University of Texas MD Anderson Cancer Center, Houston, TX, USAAbstract: Myelofibrosis (MF is a rare chronic BCR-ABL1 (breakpoint cluster region-Abelson murine leukemia viral oncogene homologue 1-negative myeloproliferative neoplasm characterized by progressive bone marrow fibrosis, inefficient hematopoiesis, and shortened survival. The clinical manifestations of MF include splenomegaly, consequent to extramedullary hematopoiesis, cytopenias, and an array of potentially debilitating abdominal and constitutional symptoms. Dysregulated Janus kinase (JAK-signal transducer and activator of transcription signaling underlies secondary disease-associated effects in MF, such as myeloproliferation, bone marrow fibrosis, constitutional symptoms, and cachexia. Common fatal complications of MF include transformation to acute leukemia, thrombohemorrhagic events, organ failure, and infections. Potential complications from hepatosplenomegaly include portal hypertension and variceal bleeding, whereas extramedullary hematopoiesis outside the spleen and liver – depending on the affected organ – may result in intracranial hypertension, spinal cord compression, pulmonary hypertension, pleural effusions, lymphadenopathy, skin lesions, and/or exacerbation of abdominal symptoms. Although allogeneic stem cell transplantation is the only potentially curative therapy, it is suitable for few patients. The JAK1/JAK2 inhibitor ruxolitinib is effective in improving splenomegaly, MF-related symptoms, and quality-of-life measures. Emerging evidence that ruxolitinib may be associated with a survival benefit in intermediate- or high-risk MF suggests the possibility of a disease-modifying effect. Consequently, ruxolitinib could provide a treatment backbone to which other (conventional and novel

  3. History, Epidemiology, and Clinical Manifestations of Zika: A Systematic Review.

    Science.gov (United States)

    Paixão, Enny S; Barreto, Florisneide; Teixeira, Maria da Glória; Costa, Maria da Conceição N; Rodrigues, Laura C

    2016-04-01

    To describe salient epidemiological characteristics of Zika virus outbreaks across the world and to examine the clinical presentations, complications, and atypical manifestations related to their occurrence in recent history. We conducted a systematic review of the literature by searching through MEDLINE, Embase, and Global Health Library, as well as the epidemiological bulletins and alerts from the World Health Organization, the Pan American Health Organization, and the European Centre for Disease Prevention and Control over the period 1954 to 2016. The search yielded 547 records. We retained 333 for further analysis, to which we added 11 epidemiological bulletins from various sources. Of these, we systematically reviewed 52 articles and reports, revealing some epidemiological features and patterns of spread of the Zika virus worldwide, as well as pathological outcomes suspected to be linked to Zika outbreaks. Neurologic disorders among zika patients were similar in Brazil and French Polynesia but a causal link is not established. Incidence of zika infection in pregnant women is not known. In Brazil, during the zika outbreak the incidence of microcephaly increased more than 20 times. Among 35 infants with microcephaly, born from women suspected to have Zika infection during pregnancy in northeast Brazil, 74% of the mothers reported rash during the first and second trimester. On February 1, 2016, The World Health Organization declared the ongoing Zika crisis an emergency and that, although not yet scientifically proven, the link between the virus and growing numbers of microcephaly cases was "strongly suspected." However, the causal relationship between zika and microcephaly is not universally accepted. Public Health Implications. The current situation with regard to Zika is not encouraging, because there is no vaccine, no treatment, and no good serological test, and vector control remains a challenge.

  4. Clinical features of severe wasp sting patients with dominantly toxic reaction: analysis of 1091 cases.

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    Cuihong Xie

    Full Text Available BACKGROUND: Massive wasp stings have been greatly underestimated and have not been systematically studied. The aim of this study was to identify the clinical features and treatment strategies of severe wasp stings. METHODS AND FINDINGS: A multicenter retrospective study was undertaken in 35 hospitals and medical centers including 12 tertiary care hospitals and 23 secondary care hospitals in the Hubei Province, China. The detailed clinical data of 1091 hospitalized wasp sting patients were investigated. Over three-fourths (76.9% of the cases had 10 or more stings and the in-hospital mortality of patients was 5.1%. Forty-eight patients died of organ injury following toxic reactions to the stings, whereas six died from anaphylactic shock. The in-hospital mortality in patients with >10 stings was higher than that of ≤10 stings (5.2% vs. 1.0%, p = 0.02. Acute kidney injury (AKI was seen in 21.0% patients and most patients required blood purification therapy. Rhabdomyolysis was seen in 24.1% patients, hemolysis in 19.2% patients, liver injury in 30.1% patients, and coagulopathy in 22.5% patients. Regression analysis revealed that high creatinine level, shock, oliguria, and anemia were risk factors for death. Blood purification therapy was beneficial for patients with ≥20 stings and delayed hospital admission of patients (≥4 hours after sting. CONCLUSIONS: In China, most patients with multiple wasp stings presented with toxic reactions and multiple organ dysfunction caused by the venom rather than an anaphylactic reaction. AKI is the prominent clinical manifestation of wasp stings with toxic reaction. High creatinine levels, shock, oliguria, and anemia were risk factors for death.

  5. Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population.

    Science.gov (United States)

    Seidel, Natan E; Arlen, Angela M; Smith, Edwin A; Kirsch, Andrew J

    2015-01-01

    To review the clinical manifestations and operative management of a large contemporary pediatric cohort of patients with prune-belly syndrome (PBS). PBS patients aged <21 years followed up in our pediatric urology clinic were identified by the International Classification of Diseases, Ninth Revision code (756.71). Demographics, concomitant diagnoses, surgical history, imaging studies, and renal or bladder function were evaluated. Data were available for 46 pediatric patients (44 boys and 2 girls). Mean age was 7.6 ± 4.7 years (range, 0.9-20 years). Average length of clinical follow-up was 6.8 ± 5 years. Forty-five children (97.8%) had hydroureteronephrosis, and 36 of them (78.3%) had vesicoureteral reflux. Five patients (10.9%) had significant pulmonary insufficiency, and 2 patients (4.3%) were oxygen dependent. Eighteen children (39.1%) had other congenital malformations, including cardiac in 4 patients (8.7%) and musculoskeletal anomalies in 10 patients (21.7%). Orchidopexy was the most common surgery, with all boys aged ≥3 years having undergone the procedure. Twenty-two patients (47.8%) had a history of ureteral surgery, 22 (47.8%) had bladder surgery, 11 (23.9%) had renal surgery, and 6 (13%) had urethral procedures. Nineteen patients (41.3%) underwent abdominoplasty. Eighteen children (39.1%) had documented chronic kidney disease, and 8 children (17.4%) underwent renal transplantation. Average age at transplantation was 5.1 ± 2.9 years. The mean nadir creatinine level for patients with end-stage renal disease was 1.4 mg/dL compared with 0.4 mg/dL for those not requiring transplantation (P <.001). Children with PBS have significant comorbidities and require frequent operative intervention, with disease heterogeneity necessitating an individualized management approach. Early end-stage renal disease is prevalent, with approximately 15% of children requiring kidney transplantation. Copyright © 2015 Elsevier Inc. All rights reserved.

  6. Psychosocial Adaptation and Depressive Manifestations in High-Risk Pregnant Women: Implications for Clinical Practice.

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    Fiskin, Gamze; Kaydirak, Meltem Mecdi; Oskay, Umran Yesiltepe

    2017-02-01

    High-risk pregnancy research has focused primarily on psychological well-being. The aim is to determine psychosocial adaptation and depression levels of pregnant women who were admitted to hospital with diagnosis of high-risk pregnancy. This study was descriptive. Sampling was composed of 122 high-risk pregnant women who were hospitalized in the perinatology service of Istanbul University Medical School, Department of Obstetrics and Gynecology between January 1, 2014, and May 31, 2014, and met the study criteria. The Pregnant Introduction Form, Psychosocial Adjustment of Illness Scale-Self Report, and CES Depression Scale were used. Of high-risk pregnant women, 47% were found to have a poor level of psychosocial adaptation and 57% presented with depressive symptoms. There were statistically significant difference found between the levels of psychosocial adaptation and status of depressive manifestations. The difference between the average scores increased as the adaptation levels weaken and the pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. The results of this study indicate that, depending on the high-risk pregnancy status, pregnant women experience difficulty in adaptation to their current status and pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. Nurses should deliver care in high-risk pregnancies with the awareness of physiological needs as well the psychosocial needs of pregnant women, and information meetings should be held in order to increase the psychosocial support of their families and decrease their tendency toward depression. Nursing initiatives should be developed with further studies for the psychosocial adaptation of high-risk pregnancy and reduction of the depressive manifestations. © 2016 Sigma Theta Tau International.

  7. Genital herpes simplex virus infections: clinical manifestations, course, and complications.

    Science.gov (United States)

    Corey, L; Adams, H G; Brown, Z A; Holmes, K K

    1983-06-01

    The clinical course and complications of 268 patients with first episodes and 362 with recurrent episodes of genital herpes infection were reviewed. Symptoms of genital herpes were more severe in women than in men. Primary first-episode genital herpes was accompanied by systemic symptoms (67%), local pain and itching (98%), dysuria (63%), and tender adenopathy (80%). Patients presented with several bilaterally distributed postular ulcerative lesions that lasted a mean of 19.0 days. Herpes simplex virus was isolated from the urethra, cervix, and pharynx of 82%, 88%, and 13% of women with first-episode primary genital herpes, and the urethra and pharynx of 28% and 7% of men. Complications included aseptic meningitis (8%), sacral autonomic nervous system dysfunction (2%), development of extragenital lesions (20%), and secondary yeast infections (11%). Recurrent episodes were characterized by small vesicular or ulcerative unilaterally distributed lesions that lasted a mean of 10.1 days. Systemic symptoms were uncommon and 25% of recurrent episodes were asymptomatic. The major concerns of patients were the frequency of recurrences and fear of transmitting infection to partners or infants.

  8. A clinical study of the cutaneous manifestations of hyperthyroidism in Kashmir valley – India

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    Mohamad Abid Keen

    2016-01-01

    Full Text Available Introduction: Thyroid hormones are instrumental in regulating the health and appearance of skin and when the thyroid gland becomes underactive or overactive, a variety of skin problems result. These dermatologic manifestations may occur secondary to the abnormal thyroid hormone levels or due to the presence of thyroid autoantibodies that interact with skin components. Aims: The present study was designed to ascertain the varied cutaneous manifestations of hyperthyroidism. Methods: This was a hospital based cross sectional study conducted over a period of one year. A total of forty diagnosed cases of hyperthyroidism constituted the subject material for the study and were evaluated for the presence of any cutaneous manifestation. Results: In our study group of 40 patients, the predominant cutaneous symptom was increased sweating (80%, followed by heat intolerance (42.5%. The predominant cutaneous sign in hyperthyroid patients was increased skin temperature, noticed in 47.5% of patients. This was followed by soft, smooth and velvety skin (37.5%, palmar erythema (35%, fine thin hair (22.5% and hyperpigmentation (10%. Conclusions: The interaction between thyroid gland and skin is very complex. So, dermatologists need to be cognizant of the ways in which these two organs interact.

  9. A study on etiologic agents and clinical manifestations of dermatophytosis in Yazd, Iran

    Science.gov (United States)

    Rashidian, S; Falahati, M; Kordbacheh, P; Mahmoudi, M; Safara, M; Sadeghi Tafti, H; Mahmoudi, S; Zaini, F

    2015-01-01

    Background and Purpose: Dermatophytosis is one of the most common infections of skin, hair, and nails, caused by a group of keratinophilic fungi known as dermatophytes. Species identification of these fungi is of great significance from epidemiological and therapeutic points of view. The objective of the present study was to investigate dermatophytosis and its causative agents in patients, referring to the Central Mycology Laboratory of Yazd University of Medical Sciences, Yazd, Iran. Materials and Methods: In total, 139 clinically suspected cases of dermatophytosis were examined during 12 months from February 2014 to February 2015. Skin scrapings were assessed through direct microscopic examinations and culture studies. Dermatophyte isolates were identified based on colony morphology on potato dextrose agar and dermatophyte test medium, nutritional requirements, urease and hair perforation tests, and microscopic characteristics on slide cultures. Results: Dermatophytosis was mycologically confirmed in 26 (18.70%) out of 139 cases. Although there was a statistically insignificant difference between male and female subjects, men were dominantly affected. Infection was significantly common in the age group of ≤ 29 years (P<0.043). The most common clinical manifestation of dermatophytosis was tinea corporis (69.2%), followed by tinea cruris (15.4%), tinea manuum (11.5%), and tinea pedis (3.8%). Trichophyton mentagrophytes complex was the main etiologic agent (38.5%), followed by T. rubrum (23%), T. violaceum (15.5%), T. verrucosum (11.5%), Microsporum canis (7.7%), and Epidermophyton floccosum (3.8%). Conclusion: In comparison with previous research, epidemiology of dermatophytosis has changed in Yazd over the past decades. Therefore, periodical investigations on the epidemiological aspects of this infection are required for efficient control and prevention of this cutaneous dermatophytic disease. PMID:28681000

  10. Classification, diagnostic criteria, and treatment recommendations for orofacial manifestations in HIV-infected pediatric patients. Collaborative Workgroup on Oral Manifestations of Pediatric HIV Infection.

    Science.gov (United States)

    Ramos-Gomez, F J; Flaitz, C; Catapano, P; Murray, P; Milnes, A R; Dorenbaum, A

    1999-01-01

    The criteria for diagnosis of HIV-related oral lesions in adults are well established, but corresponding criteria in the pediatric population are not as well defined. The Collaborative Workgroup on the Oral Manifestations of Pediatric HIV infection reached a consensus, based upon available data, as to the presumptive and definitive criteria to diagnose the oral manifestations of HIV infection in children. Presumptive criteria refer to the clinical features of the lesions, including signs and symptoms, whereas definitive criteria require specific laboratory tests. In general, it is recommended that definitive criteria be established whenever possible. Orofacial manifestations have been divided into three groups: 1) those commonly associated with pediatric HIV infection; 2) those less commonly associated with pediatric HIV infection; and 3) those strongly associated with HIV infection but rare in children. Orofacial lesions commonly associated with pediatric HIV infection include candidiasis, herpes simplex infection, linear gingival erythema, parotid enlargement, and recurrent aphthous stomatitis. In contrast, orofacial lesions strongly associated with HIV infection but rare in children include Kaposi's sarcoma, non-Hodgkin's lymphoma, and oral hairy leukoplakia. Treatment recommendations, specific for this age group, have been included for some of the more common HIV-related orofacial manifestations.

  11. What rheumatologists should know about orofacial manifestations of autoimmune rheumatic diseases.

    Science.gov (United States)

    Abrão, Aline Lauria Pires; Santana, Caroline Menezes; Bezerra, Ana Cristina Barreto; Amorim, Rivadávio Fernandes Batista de; Silva, Mariana Branco da; Mota, Licia Maria Henrique da; Falcão, Denise Pinheiro

    2016-02-11

    Orofacial manifestations occur frequently in rheumatic diseases and usually represent early signs of disease or of its activity that are still neglected in clinical practice. Among the autoimmune rheumatic diseases with potential for oral manifestations, rheumatoid arthritis (RA), inflammatory myopathies (IM), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), relapsing polychondritis (RP) and Sjögren's syndrome (SS) can be cited. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, lesions of the oral mucosa, periodontal disease, dysphagia, and dysphonia may be the first expression of these rheumatic diseases. This article reviews the main orofacial manifestations of rheumatic diseases that may be of interest to the rheumatologist for diagnosis and monitoring of autoimmune rheumatic diseases. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

  12. Oral Manifestations in Pediatric Patients with Coeliac Disease - A Review Article.

    Science.gov (United States)

    Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso E Silva, Diana Maria; de Andrade, David José Casimiro

    2017-01-01

    Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were "coeliac disease ","oral manifestations ", "dental enamel defects", "recurrent aphthous stomatitis" and "oral aphthous ulcers". There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease.

  13. Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

    Science.gov (United States)

    Plaza, Jose A; Sangueza, Martin

    2015-01-01

    Hydroa vacciniforme-like lymphoma (HVL) is a rare cutaneous T-cell lymphoma that is usually seen in children of Hispanic or Asian origin. Association between chronic latent Epstein-Barr virus infection in both hydroa vacciniforme (HV) and HVL has been demonstrated and has recently been categorized by the World Health Organization as one of the Epstein Barr virus-positive lymphoproliferative disorders of childhood. Patients with HVL present with a cutaneous rash characterized by edema, blisters, ulcers, and scars mainly seen on the face and extremities that mimic HV; however, unlike in HV, the lesions tend to be extensive and deeper and are associated with severe scarring, necrosis, and systemic manifestations. We are reporting 7 cases of an unusual clinical variant of HVL with primarily periorbital edema. All of our patients in this series presented with progressive periorbital edema that was accompanied with systemic symptoms including fever, malaise, and lymphadenopathy. Most cases were initially misinterpreted as inflammatory processes including cellulitis, arthropod bite reactions, and periorbital lupus erythematosus. The biopsy of these lesions revealed an atypical lymphocytic infiltrate predominantly distributed in the deep dermis and in subcutaneous fat. Immunohistochemistry studies revealed a cytotoxic T-cell (CD8) profile. All cases were associated with Epstein-Barr virus infection. Our study presents a rare clinical variant of HVL with predominant periorbital edema. This variant could potentially be overlooked and misdiagnosed as an inflammatory condition; thus, it needs to be included in the differential diagnosis of periorbital edema in young patients.

  14. Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

    Science.gov (United States)

    Liu, Jing-Yao; Zhao, Teng; Zhou, Chun-Kui

    2014-04-01

    Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

  15. Clinical and CT analysis of GCS 15 patients with intracranial hemorrhage

    International Nuclear Information System (INIS)

    Yang Lin; He Jianyuan; Jiang Shanyue; Zhang Yanling

    2007-01-01

    Objective: To analyze the clinical symptoms and CT manifestations of GCS 15 patients with intracranial hemorrhage. Methods: Clinical data and manifestations of the CT images of 35 patients with GCS 15 and intracranial hemorrhage were retrospectively analyzed and followed up. in short term. Results: Clinical symptoms: Deficits in short-term memory appeared in 17% of patients, vomiting in 26%, headache in 97%, physical evidence of trauma above the clavicles in 100%. CT scanning: intracerebral hemorrhage occurred in 18 patients, epidural hemorrhage in 9 patients, subarachnoid hemorrhage in 8 patients, subdural hemorrhage in 7 patients. During follow up, clinical severe degree was in consistent of craniocerebral CT scanning. Conclusion: For patients with GCS 15 brain injuries early head CT scanning is very important. Intracranial hemorrhage may occur in these patients. If possible, re-assessment of clinical examination and CT scanning is remarkably necessary. (authors)

  16. EFFICACY OF RECURRENT RITUXIMAB TREATMENT IN PATIENT WITH SEVERE REFRACTORY SYSTEMIC JUVENILE RHEUMATOID ARTHRITIS

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    E.I. Alexeeva

    2011-01-01

    Full Text Available The article contains clinical case description of a severe systemic juvenile rheumatoid arthritis, that was refractory to classic immunosuppressant therapy. The disease was characterized by such extraarticular manifestations as fever, lymphadenopathy,  hepatosplenomegaly, polyserositis, generalized joint involvement and high activity in lab tests. As a result of severe clinical course of the disease, patients develop bilateral aseptic bone necrosis in coxofemoral joints and coxarthrosis. Against the background of glucocorticosteroid treatment the patient has developed hormone-dependency and hormone resistance. Inclusion into the treatment of anti-CD20 monoclonal antibodies (rituximab has stopped systemic manifestations of the disease, inflammation in the joints, normalized lab activity rates. The positive therapeutic effect allowed to perform surgery due to bilateral coxarthrosis. These results show that rituximab is highly effective in children with systemic juvenile rheumatoid arthritis, that is resistant to classic immunosupressants and glucocorticoides. Key words: children, systemic juvenile rheumatoid arthritis, rituximab, recurrent treatment, prosthetics, hip joint. (Voprosy sovremennoi pediatrii — Current Pediatrics. — 2011; 10 (5: 157–163.

  17. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

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    Elsa Aburto-Mejía

    2017-01-01

    Full Text Available Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1 overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM plus Metabolic Syndrome (MetS before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p=0.026. A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p=0.001, with β=0.18 (p=0.03 for hypertension, β=-0.16 (p=0.05 for NL HDL-c, and β=0.15 (p=0.05 for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

  18. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

    Science.gov (United States)

    Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo

    2017-01-01

    Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p = 0.001), with β = 0.18 (p = 0.03) for hypertension, β = −0.16 (p = 0.05) for NL HDL-c, and β = 0.15 (p = 0.05) for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability. PMID:28271069

  19. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease.

    Science.gov (United States)

    Aburto-Mejía, Elsa; Santiago-Germán, David; Martínez-Marino, Manuel; María Eugenia Galván-Plata; Almeida-Gutiérrez, Eduardo; López-Alarcón, Mardia; Hernández-Juárez, Jesús; Alvarado-Moreno, Antonio; Leaños-Miranda, Alfredo; Majluf-Cruz, Abraham; Isordia-Salas, Irma

    2017-01-01

    Background . Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1) overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim . To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM) plus Metabolic Syndrome (MetS) before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods . We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results . We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p = 0.026). A model with components of MetS explained only 12% of variability on PAI-1 levels ( R 2 = 0.12; p = 0.001), with β = 0.18 ( p = 0.03) for hypertension, β = -0.16 ( p = 0.05) for NL HDL-c, and β = 0.15 ( p = 0.05) for NL triglycerides. Conclusion . Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

  20. Partial clinical response to anakinra in severe palmoplantar pustular psoriasis.

    Science.gov (United States)

    Tauber, M; Viguier, M; Alimova, E; Petit, A; Lioté, F; Smahi, A; Bachelez, H

    2014-09-01

    Palmoplantar pustular psoriasis is a clinical psoriasis variant characterised by a high impact on quality of life and poor response to biologics approved for plaque type psoriasis.The recombinant interleukin-1 (IL-1) receptor antagonist anakinra has been recently used for the treatment of isolated refractory cases of generalised pustular psoriasis with contrasted results. To report the clinical response in two patients treated with anakinra as salvage therapy in two patients with severe palmoplantar pustular psoriasis refractory to currently available antipsoriatic systemic therapies. Anakinra was given subcutaneously at the daily dose of 100 mg, and clinical response was evaluated using the palmoplantar psoriasis area and severity index (PPPASI). Only partial and transient responses were observed in both patients, who had to stop anakinra due to lack of efficacy and to side effects. Anakinra appears to provide only partial clinical improvement in refractory palmoplantar pustular psoriasis. Prospective clinical studies on larger populations are warranted to investigate more accurately both efficacy and safety of IL-1-inhibiting strategies in pustular psoriasis. © 2014 British Association of Dermatologists.

  1. Ocular Adnexal and Anterior Segment Manifestations of HIV/AIDS ...

    African Journals Online (AJOL)

    Background: Benue State has the highest rate of sero-prevalence to human immuno virus (HIV) infections among the ten hyper-endemic states in Nigeria. This study evaluates the pattern of ocular adnexal and anterior segment manifestations in HIV/AIDS patients attending the HIV clinic at the NAF Hospital in Makurdi, ...

  2. [Myelophthisis and kasabach merrit syndrome as initial manifestation of splenic angiosarcoma].

    Science.gov (United States)

    Serra, Jeremias Tomas; Orozco, Maira J; Prato, Franco J; Sánchez, Victoria; Basqueira, Ana J; Brocca, Carlos A

    2016-01-01

    Primary splenic angiosarcoma is an extremely agressive and rare neoplasm. Manifestations as bone marrow invasion and coagulation disorders have been reported isolatedly. A 26 years-old woman presented with abdominal pain; several anemia and thrombocytopenia associated to leukoerythroblastic reaction were found in the laboratory. Consumpion coagulopathy signs and microangiopathy as schistocytes, prolonged prothrombine time, decreased fibrinogen and increased D dimer were also present. Imaging findings included a lobulated, enlarged spleen, with spontanously hyperdense areas, and heterogeneous nodules with intense, irregular enhancement after contrast administration. There were hepatic and pulmonary metastases, as well as bone lesions with conspicuous vessels. Clinical features of Kasabach-Merrit syndrome and imaging vascular neoplasm characteristics suggest a primary splenic angiosarcoma. Splenectomy and bone marrow biopsy confirmed the diagnosis of primary splenic angiosarcoma in metastatic stage.

  3. Retroillumination photography analysis enhances clinical definition of severe Fuchs Corneal Dystrophy

    Science.gov (United States)

    Eghrari, Allen O.; Garrett, Brian S.; Mumtaz, Aisha A.; Edalati, Armand E.; Meadows, Danielle N.; McGlumphy, Elyse J.; Iliff, Benjamin W.; Gottsch, John D.

    2015-01-01

    Purpose Retroillumination photography analysis (RPA) provides objective assessment of the number and distribution of guttae in Fuchs Corneal Dystrophy. Here, we assess its correlation with clinical grading using slit-lamp biomicroscopy across varying levels of severity. Methods Retroillumination photographs were conducted of 95 affected corneas with slit-lamp flash photography after pupillary dilation. Individual guttae were counted manually and the position of individual points recorded. Clinical grading using the Krachmer scale was documented for each eye during examination, and regression analyses were performed to identify the strength of association with number of guttae. We assessed range at each stage of clinical grading, and utilized the Mann-Whitney U test to assess whether clinical grading levels demonstrated successively higher numbers of guttae. Results Krachmer score ranged from 1 to 5, with mean of 2.6. Mean numbers of guttae at each level of severity were 289 (1+), 999 (2+), 2669 (3+), 5474 (4+), and 7133 (5+). Each stage demonstrated significantly higher numbers of guttae than its preceding level except from 4+ to 5+ (p=0.30), consistent with the definition of 4+ as the highest level defined by presence of guttae. Higher levels of clinical grading were associated with larger ranges of guttae (p<0.01). A linear regression model resulted in a strong fit between RPA and Krachmer score (r=0.81). Conclusion In this largest study of RPA data and comparison with subjective clinical grading of FCD severity, RPA correlates strongly and demonstrates enhanced definition of severity at advanced stages of disease. PMID:26488628

  4. The skin as a window to the blood: Cutaneous manifestations of myeloid malignancies.

    Science.gov (United States)

    Li, Alvin W; Yin, Emily S; Stahl, Maximilian; Kim, Tae Kon; Panse, Gauri; Zeidan, Amer M; Leventhal, Jonathan S

    2017-11-01

    Cutaneous manifestations of myeloid malignancies are common and have a broad range of presentations. These skin findings are classified as specific, due to direct infiltration by malignant hematopoietic cells, or non-specific. Early recognition and diagnosis can have significant clinical implications, as skin manifestations may be the first indication of underlying hematologic malignancy, can reflect the immune status and stage of disease, and cutaneous reactions may occur from conventional and targeted agents used to treat myeloid disease. In addition, infections with cutaneous involvement are common in immunocompromised patients with myeloid disease. Given the varying presentations, dermatologic findings associated with myeloid malignancies can pose diagnostic challenges for hematologists and dermatologists. In this clinical review intended for the practicing hematologist/oncologist, we discuss the presentation, diagnosis, treatment, and prognostic value of the most common cutaneous manifestations associated with myeloid malignancies using illustrative macro- and microscopic figures and with a special emphasis on practical considerations. Copyright © 2017 Elsevier Ltd. All rights reserved.

  5. Anaphylactoid Purpura Manifested after Acute Gastroenteritis with Severe Dehydration in an 8-Year-Old Male Child: A Case Report.

    Science.gov (United States)

    Thakkar, Umang G; Vanikar, Aruna V; Trivedi, Hargovind L

    2015-12-01

    Anaphylactoid purpura, also known as Henoch-Schönleinpurpura (HSP), is an IgA-mediated vasculitis that tends to be a benign disease of childhood. Up to 50% of cases are preceded by an upper tract respiratory infection caused by group-A beta-hemolytic streptococcus and present with the common tetrad of abdominal pain, arthritis, purpuric rash, and renal involvement. The majority of patients recover completely. Here we document a rare case of anaphylactoid purpura which manifested with skin lesions in the form of palpable purpura following about of acute gastroenteritis with severe dehydration; it was treated with a short regimen of steroid therapy, which resulted in the complete remission of the disease. We conclude that prompt diagnosis and multidisciplinary intervention will lead to appropriate management-consisting of the installation of early short-course steroid therapy and thus, prevent further complications and the recurrence of the disease.

  6. Apoptosis and clinical severity in patients with psoriasis and HCV infection

    Directory of Open Access Journals (Sweden)

    Sami A Gabr

    2014-01-01

    Full Text Available Background: It has been proposed that hepatitis C virus (HCV antigens are involved in the pathogenesis of psoriasis and may contribute to severity of the disease. Increased expression of the apoptosis-regulating proteins p53 and tTG and decreased levels of bcl-2 in the keratinocytes of the skin of psoriatic patients have been reported. Aim: This study aims to identify the serum levels of apoptosis-regulating proteins in patients with psoriasis and without HCV infection and to study the relation between clinical severity of psoriasis and the presence of HCV infection. Materials and Methods: Disease severity was assessed by psoriasis area severity index score (PASI of 90 patients with psoriasis grouped as mild (n = 30, moderate (n = 30 and severe (n = 30; 20 healthy individuals were used as controls. All groups were subjected for complete history taking, clinical examination, and tests for liver function and HCV infection. The serum levels of apoptosis related proteins: p53, tTG and bcl-2 were estimated by enzyme linked immune sorbent assay (ELISA. Results: There was a statistically significant (P < 0.001 correlation between clinical severity of psoriasis and presence of HCV antibodies and HCV-mRNA. In addition, significantly (P < 0.001 raised serum p53 and tTG, and reduced bcl-2 were observed among HCV-positive patients as compared to HCV-negative patients and control patients. Conclusion: These results conclude that clinical severity of psoriasis is affected by the presence of HCV antibodies and overexpression of apoptotic related proteins. In addition, altered serum levels of apoptosis-regulating proteins could be useful prognostic markers and therapeutic targets of psoriatic disease.

  7. MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

    Directory of Open Access Journals (Sweden)

    Yi Shiau Ng

    2018-04-01

    Full Text Available Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS. In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10 years (range: 5·4 months−37 years, IQR = 17·9 years. Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS, and one with Leber hereditary optic neuropathy. The remaining nine patients presented with either overlapping syndromes or isolated neurological symptoms. Mitochondrial respiratory chain activity analysis was normal in five out of ten muscle biopsies. We confirmed maternal inheritance in six families, and demonstrated marked variability in tissue segregation, and phenotypic expression at relatively low blood mutant loads. Neuropathological studies of two patients manifesting with LS/MELAS showed prominent capillary proliferation, microvacuolation and severe neuronal cell loss in the brainstem and cerebellum, with conspicuous absence of basal ganglia involvement. These findings suggest that whole mtDNA genome sequencing should be considered in patients with suspected mitochondrial disease presenting with complex neurological manifestations, which would identify over 300 known pathogenic variants including the m.13094T>C. Keywords: Mitochondrial encephalomyopathy, Lactic acidosis and stroke-like episodes (MELAS, Leigh syndrome (LS, Mitochondrial DNA, Heteroplasmy, Neuropathology

  8. Acute respiratory failure as primary manifestation of antineutrophil cytoplasmic antibodies-associated vasculitis

    Directory of Open Access Journals (Sweden)

    Evdokia Sourla

    2014-07-01

    Full Text Available The systemic vasculitides are multifocal diseases characterized by the presence of blood vessel inflammation in multiple organ systems. Their clinical presentation is variable extending from self-limited illness to critical complications including diffuse alveolar hemorrhage and glomerulonephritis. Alveolar hemorrhage is a lifethreatening manifestation of pulmonary vasculitis that can rapidly progress into acute respiratory failure requiring ventilatory support. We present the case of a 74-year-old patient admitted to the Intensive Care Unit with severe hypoxic respiratory failure and diffuse alveolar infiltrates in chest imaging that was later diagnosed as antineutrophil cytoplasmic antibodies-associated vasculitis. The report highlights the importance of differentiate between alveolar hemorrhage and acute respiratory distress syndrome of other etiology because alveolar hemorrhage is reversible with prompt initiation of treatment.

  9. Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

    Science.gov (United States)

    Guerriero, Réjean M; Patel, Archana A; Walsh, Brian; Baumer, Fiona M; Shah, Ankoor S; Peters, Jurriaan M; Rodan, Lance H; Agrawal, Pankaj B; Pearl, Phillip L; Takeoka, Masanori

    2017-11-01

    Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency. A series of six patients with homozygous mutations of PNPO, the gene coding pyridox(am)ine 5'-phosphate oxidase, were evaluated in our center over the course of two years for phenotyping of neurological and systemic manifestations. Five of six were born prematurely, three had anemia and failure to thrive, and two had elevated alkaline phosphatase. A movement disorder was observed in two children, and a reversible retinopathy was observed in the most severely affected infant. All patients had neonatal-onset epilepsy and were on a continuum of developmental delay to profound encephalopathy. Electroencephalographic features included background slowing and disorganization, absent sleep features, and multifocal and generalized epileptiform discharges. All the affected probands carried a homozygous PNPO mutation (c.674 G>T, c.686 G>A and c.352G>A). In addition to the well-described epileptic encephalopathy, pyridox(am)ine 5'-phosphate oxidase deficiency causes a range of neurological and systemic manifestations. A movement disorder, developmental delay, and encephalopathy, as well as retinopathy, anemia, and failure to thrive add to the broadening clinical spectrum of P5P dependent epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

  10. Asymptomatic hyper-creatine-kinase-emia as sole manifestation of inclusion body myositis

    Directory of Open Access Journals (Sweden)

    Josef Finsterer

    2013-06-01

    Full Text Available Sporadic inclusion body myositis (sIBM usually manifests with painless weakness of the hand, finger and hip flexors. Absence of symptoms or signs, but mild hyper-CK-emia as the sole manifestation of IBM, has not been reported. We report the case of a 73-year-old male who presented with asymptomatic recurrent hyper-CK-emia ranging from 200 to 1324 U/L (n<171 U/L, since 10 years. Clinical neurologic investigation, nerve conduction studies and EMG were non-informative. Muscle biopsy surprisingly revealed sIBM. sIBM may be asymptomatic and may manifest with hyper-CK-emia exclusively. So, it has to be included in the differential diagnoses of asymptomatic hyper-CK-emia.

  11. Various Manifestations of Hyperthyroidism in an Ambulatory Clinic: Case Studies

    Science.gov (United States)

    Tripp, Warren; Rao, Vijaya; Creary, Ludlow B.

    1987-01-01

    This study reviews five cases of women with hyperthyroidism, three black women and two Hispanic women. Initially, two patients presented with voice changes, weight loss, and increased appetite. Only two patients presented with classical symptoms of hyperthyroidism. Examination showed all patients had diffusely enlarged thyroids and exaggerated reflexes. Two patients showed Graves' opthalmopathy. These cases document the variety of presentations of hyperthyroidism. Hence, a high index of suspicion must exist for this disease, even in the absence of a number of the classical manifestations of hyperthyroidism. When patients present to primary care centers with a constellation of symptoms, an examination of the thyroid gland is essential. PMID:3694696

  12. Severe falciparum malaria: A case report

    Science.gov (United States)

    Arcelia, F.; Asymida, F.; Lubis, N. F. M.; Pasaribu, A. P.

    2018-03-01

    Plasmodium parasites caused Malaria. Indonesia is one of the countries in Southeast Asia that endemic to malaria. The burden of malaria is more in the eastern part of Indonesia than the Western part as well as the endemicity. Some cases of malaria will develop to severe form. Usually, the manifestation of children and adult are different. We reported a severe case of malaria in a 14-year-old boy who develops several manifestations such as anemia, hypoglycemia, sepsis and black water fever. We successfully treated the patient with Artesunate intravenous and continued with Dihydroartemisinin-piperaquine.

  13. Fever as an initial manifestation of spondyloarthritis: A retrospective study.

    Directory of Open Access Journals (Sweden)

    Se Jin Byun

    Full Text Available We aimed to evaluate a wide spectrum of clinical features of adult patients with spondyloarthritis (SpA whose initial manifestation was fever, using the Assessment of SpondyloArthritis international Society (ASAS classification criteria.We retrospectively collected the electronic medical records of hospitalized SpA patients who initially presented to the Severance Hospital (Seoul, Korea with fever from January 2010 to May 2016. As a control group, we also recruited one-hundred consecutive patients who were diagnosed with SpA in our outpatient clinic. Clinical features and laboratory findings were compared in two patient groups.There were 26 patients who had fever as initial presentation of SpA (reactive arthritis 50%, undifferentiated SpA 26.9%, ankylosing spondylitis 15.4%, enteropathic arthritis 3.8%, psoriatic arthritis 3.8%. Peripheral SpA was more common in febrile SpA patients than in control SpA patients (65.4% vs 24.0%, p<0.001. Febrile SpA patients were less frequently HLA-B27 positive than control SpA patients (52.2% vs 77.0%, p<0.05. At baseline, systemic inflammatory markers were significantly higher in the febrile SpA patients (white blood cell count, 11.57 vs 7.81 cells/μL, p<0.001; erythrocyte sedimentation rate, 69.2 vs 41.0 mm/h, p<0.001; C-reactive protein, 109.6 vs 15.3 mg/L, p<0.001. The proportion of patients treated with systemic steroids was significantly higher in febrile SpA patients (57.7% vs. 11.0%, p<0.001. The proportion of patients who visited rheumatology specialty was significantly lower in febrile SpA patients than in control SpA patients (7.7% vs 59.0%, p<0.001.Various subgroups of SpA can be presented with fever as an initial manifestation. Febrile SpA patients demonstrated higher systemic inflammation and a lower chance to visit rheumatology in early stage. When evaluating febrile patients with any clinical features of SpA, clinicians are advised to consider performing SpA-focused evaluation including HLA-B27

  14. Congenital retrosternal hernias of Morgagni: Manifestation and treatment in children

    Directory of Open Access Journals (Sweden)

    Oleksii Slepov

    2016-01-01

    Full Text Available Background: Due to scarcity of congenital diaphragmatic hearnias of Morgagni (CDHM, non-specific clinical presentation in the pediatric age group, we aimed to investigate the incidence, clinical manifestations, anatomical characteristics, and develop diagnostic algorithm and treatment of CDHM in children. Materials and Methods: The patients′ records of children with CDHM treated in our hospital during past 20 years were retrospectively reviewed for the age at diagnosis, gender, clinical findings, anatomical features, operative details and outcome. Results: Since 1995 to 2014 we observed 6 (3 boys, 3 girls patients with CDHM, that comprise 3.2% of all congenital diaphragmatic hernia cases (n = 185. Age at diagnosis varied from 3 mo. to 10y.o. Failure to thrive was main symptom in 4 patients, followed by recurrent respiratory infections (n = 3, dyspnea (n = 3, and gastrointestinal manifestations: constipation (n = 2, abdominal pain (n = 1. Work-up consisted of plain X-ray for all (n = 6, upper GI (n = 3, barium enema (n = 2, sonography (n = 6 and CT (n = 2. Abdominal approach used in 5 patients, and thoracotomy in one. Herniated contents were: liver lobes (n = 4, transverse colon (n = 3 and greater omentum (n = 1. 5 had right-sided lesion, 1- left-sided. Defect repaired using local tissues. Post-operative course was uneventful; all patients appeared well during follow-up. Conclusion: CDHM is very uncommon anomaly, very occasionally diagnosed at the early age. Failure to thrive and recurrent respiratory infections are most frequent clinical manifestations. In suspected CDHM we advocate the following work-up: plain chest and abdominal X-ray, contrast study (upper GI series or barium enema, ultrasonographic screen and CT scan. Surgical repair via abdominal approach, using local tissues and hernia sac removal is preferred.

  15. Eosinophilic ascites due to severe eosinophilic ileitis.

    Science.gov (United States)

    Setia, Namrata; Ghobrial, Peter; Liron, Pantanowitz

    2010-09-17

    There is a broad etiology for effusion eosinophilia that includes allergic, reactive, infectious, immune, neoplastic, and idiopathic causes. We report and describe the cytomorphologic findings of a rare case of eosinophilic ascites due to severe eosinophilic ileitis. A 17-year-old male manifested acutely with eosinophilic ascites due to severe biopsy-proven subserosal eosinophilic ileitis. Isolated peritoneal fluid submitted for cytologic evaluation revealed that 65% eosinophils were present in a bloody background. The patient responded to corticosteroids, with complete resolution of his ascites. Eosinophilic gastroenteritis with subserosal involvement should be added to the list of causes for eosinophils in peritoneal fluid. The finding of eosinophilic ascites, with appropriate clinical and laboratory findings, may warrant the need to perform laparoscopic intestinal biopsies to confirm the diagnosis.

  16. Dermatological manifestations in patients with HIV/AIDS

    OpenAIRE

    Sahily De la Paz Peña; Leonides Rojas Barly; Reynaldo Hugo Remond Vázquez; Maira Lozano Lavernia

    2015-01-01

    In view of the frequency of the dermatological manifestations in patients who suffer from AIDS/HIV, and with the objective of describing their behaviour, a descriptive,observational, and cross sectional investigation was carried out in the cases of the AIDS provincial consultation at Ernesto Guevara General Teaching Hospital of Las Tunas from January, 2007 to June, 2008. The information was obtained from the survey, the dermatological examination, and the clinical charts. The sample was made ...

  17. Vaccination and Clinical Severity: Is the Effectiveness of Contact Tracing and Case Isolation Hampered by Past Vaccination?

    Directory of Open Access Journals (Sweden)

    Hiroshi Nishiura

    2013-02-01

    Full Text Available While contact tracing and case isolation are considered as the first choice of interventions against a smallpox bioterrorist event, their effectiveness under vaccination is questioned, because not only susceptibility of host and infectiousness of case but also the risk of severe clinical manifestations among cases is known to be reduced by vaccine-induced immunity, thereby potentially delaying the diagnosis and increasing mobility among vaccinated cases. We employed a multi-type stochastic epidemic model, aiming to assess the feasibility of contact tracing and case isolation in a partially vaccinated population and identify data gaps. We computed four epidemiological outcome measures, i.e., (i the threshold of a major epidemic under the interventions; (ii the expected total number of cases; (iii the probability of extinction, and (iv the expected duration of an outbreak, demonstrating that all of these outcomes critically depend on the clinical impact of past vaccination on the diagnosis and movement of vaccinated cases. We discuss that, even in the absence of smallpox in the present day, one should consider the way to empirically quantify the delay in case detection and an increase in the frequency of contacts among previously vaccinated cases compared to unvaccinated during the early stage of an epidemic so that the feasibility of contact tracing and case isolation in a vaccinated population can be explicitly assessed.

  18. Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology.

    Science.gov (United States)

    Hartmann, Karin; Escribano, Luis; Grattan, Clive; Brockow, Knut; Carter, Melody C; Alvarez-Twose, Ivan; Matito, Almudena; Broesby-Olsen, Sigurd; Siebenhaar, Frank; Lange, Magdalena; Niedoszytko, Marek; Castells, Mariana; Oude Elberink, Joanna N G; Bonadonna, Patrizia; Zanotti, Roberta; Hornick, Jason L; Torrelo, Antonio; Grabbe, Jürgen; Rabenhorst, Anja; Nedoszytko, Boguslaw; Butterfield, Joseph H; Gotlib, Jason; Reiter, Andreas; Radia, Deepti; Hermine, Olivier; Sotlar, Karl; George, Tracy I; Kristensen, Thomas K; Kluin-Nelemans, Hanneke C; Yavuz, Selim; Hägglund, Hans; Sperr, Wolfgang R; Schwartz, Lawrence B; Triggiani, Massimo; Maurer, Marcus; Nilsson, Gunnar; Horny, Hans-Peter; Arock, Michel; Orfao, Alberto; Metcalfe, Dean D; Akin, Cem; Valent, Peter

    2016-01-01

    Cutaneous lesions in patients with mastocytosis are highly heterogeneous and encompass localized and disseminated forms. Although a classification and criteria for cutaneous mastocytosis (CM) have been proposed, there remains a need to better define subforms of cutaneous manifestations in patients with mastocytosis. To address this unmet need, an international task force involving experts from different organizations (including the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology) met several times between 2010 and 2014 to discuss the classification and criteria for diagnosis of cutaneous manifestations in patients with mastocytosis. This article provides the major outcomes of these meetings and a proposal for a revised definition and criteria. In particular, we recommend that the typical maculopapular cutaneous lesions (urticaria pigmentosa) should be subdivided into 2 variants, namely a monomorphic variant with small maculopapular lesions, which is typically seen in adult patients, and a polymorphic variant with larger lesions of variable size and shape, which is typically seen in pediatric patients. Clinical observations suggest that the monomorphic variant, if it develops in children, often persists into adulthood, whereas the polymorphic variant may resolve around puberty. This delineation might have important prognostic implications, and its implementation in diagnostic algorithms and future mastocytosis classifications is recommended. Refinements are also suggested for the diagnostic criteria of CM, removal of telangiectasia macularis eruptiva perstans from the current classification of CM, and removal of the adjunct solitary from the term solitary mastocytoma. Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

  19. Clinical Characterization of Gastric Antral Vascular Ectasia: A Potential Manifestation of the Metabolic Syndrome.

    Science.gov (United States)

    Smith, Elliot; Tekola, Bezawit; Patrie, James; Cornella, Scott; Caldwell, Stephen

    2016-12-01

    Gastric antral vascular ectasia is a relatively common endoscopic finding. Past studies have shown an association of gastric antral vascular ectasia with cirrhosis and autoimmune disorders. We aimed to re-examine these associations and to investigate a possible association of gastric antral vascular ectasia with features of the metabolic syndrome. There were 135 patients with a diagnosis of gastric antral vascular ectasia from years 1995-2013 seen at the University of Virginia who were identified from a clinical data repository and age and sex matched to a cohort of patients without gastric antral vascular ectasia undergoing endoscopy within the same time frame as the index cases. The groups were compared for comorbidities including autoimmune disease, cirrhosis, vascular disease, body mass index (BMI), diabetes mellitus, and cirrhosis due to nonalcoholic steatohepatitis. Sixty-four percent of gastric antral vascular ectasia patients were cirrhotic, compared with 14% of controls (P correlation of gastric antral vascular ectasia with features of metabolic syndrome such as diabetes, BMI, vascular disease, and nonalcoholic steatohepatitis cirrhosis. The pathophysiology of gastric antral vascular ectasia remains uncertain, but we speculate that it may be a manifestation of the metabolic syndrome. Copyright © 2016 Elsevier Inc. All rights reserved.

  20. ORAL MANIFESTATIONS AMONG ROMANIAN HIV PATIENTS

    Directory of Open Access Journals (Sweden)

    Manuela ARBUNE

    2013-03-01

    Full Text Available The objective of the study is to evaluate the oral health problems on HIV youth patients from Galati. Materials and method. A cross-sectional study assessed 102 patients with mean age 22. The most frequent oral manifestations on HIV infected youth under ART are erythema marginatum, periodontitis, candidosis and hypertrophia gingivalis. Results and discussion. Dental decay-missing-filled index on HIV patients is high. Viral HIV replication, long time pediatric exposure on HIV, male sex, smoking, and oral inflamation are related to dental poor condition. Exodontic therapy is comon among HIV youth. However, persistence of some associated oral infections is related to individual or behavioral risk factors, but also to some newly found mechanisms, such as disfunctional immune reconstruction. Seeing to antiretroviral treatment, the severity and frequency of oral manifestations decreased among HIV patients on antiretroviral treatment. Conclusions. Developing medical, social and educational programs is imperative for improving the oral health of HIV youth of Galati.

  1. Clinical and laboratory assessment of dehydration severity in children with acute gastroenteritis.

    Science.gov (United States)

    Parkin, Patricia C; Macarthur, Colin; Khambalia, Amina; Goldman, Ran D; Friedman, Jeremy N

    2010-03-01

    To evaluate clinical and laboratory assessment of dehydration severity in children, 1 to 36 months, with acute gastroenteritis. Clinical and laboratory measures and weight change following rehydration were collected for enrolled children. Pediatric emergency department. Likelihood ratio (LR+) and 95% confidence interval (CI): for a clinical score of 0, the LR+ was 2.2 (95% CI = 0.9-5.3); for a clinical score of 1 to 4, the LR+ was 1.3 (95% CI = 0.90-1.74); for a clinical score of 5 to 8, the LR+ was 5.2 (95% CI = 2.2-12.8); for a venous pH Dehydration Scale and laboratory measures into clinical decision-making algorithms to assess dehydration severity in children with acute gastroenteritis.

  2. Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

    DEFF Research Database (Denmark)

    Lakdawala, Neal K; Thune, Jens J; Colan, Steven D

    2012-01-01

    Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere...... mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM....

  3. Ventricular Septal Defect: Peculiarities of Early Neonatal and Postnatal Diagnosis, Clinical Manifestations, Treatment and Prognosis at the Contemporary Stage

    Directory of Open Access Journals (Sweden)

    K.A. Kalashnikova

    2016-05-01

    Full Text Available The article presents the literature data on the incidence, the main clinical manifestations, modern methods for early neonatal and postnatal diagnosis and treatment of ventricular septal defect in children, as well as the prognosis of this disease. According to the International Classification of Diseases, 10th revision, ventricular septal defect is classified as Q21.0 Ventricular septal defect. Incidence. In the overall structure of congenital malformations of the cardiovascular system, ventricular septal defect has about 20 %. Diagnosis. Moderate ventricular septal defect is manifested by shortness of breath, rapid fatigability during feeding, delay in physical development. Significant arterial-venous shunt in the first month of life is accompanied by a transient mild cyanosis when the baby is fed and cries. Infants develop high pulmonary hypertension, circulatory failure, malnutrition. Small noise intensity is typical for newborns in the first weeks or even months of life, which is due to physiologically increased intravascular pulmonary resistance. Systolic murmur is extended to the entire systole with maximum amplitude at the left edge of the sternum at the level of III–IV intercostal spaces. Sclerotic phase of pulmonary hypertension with ventricular septal defect is defined as Eisenmenger reaction. The clinical picture of this disorder depends on the degree of hemodynamic instability caused by the defect parameters, the pressure level in the pulmonary artery, vascular pulmonary resistance, the magnitude and direction of the shunt through the defect. Diagnosis is confirmed by characteristic changes in the electrocardiogram, echocardiography and chest radiograph. Treatment. Small muscular ventricular septal defects often close spontaneously during the first 2 years of life. Drug correction is needed in the development of congestive heart failure. The optimum age for surgery — 5–9 years.

  4. Systemic lupus erythematosus in an African Caribbean population: incidence, clinical manifestations, and survival in the Barbados National Lupus Registry.

    Science.gov (United States)

    Flower, Cindy; Hennis, Anselm J M; Hambleton, Ian R; Nicholson, George D; Liang, Matthew H

    2012-08-01

    To assess the epidemiology, clinical features, and outcomes of systemic lupus erythematosus (SLE) in the predominantly African Caribbean population of Barbados. A national registry of all patients diagnosed with SLE was established in 2007. Complete case ascertainment was facilitated by collaboration with the island's sole rheumatology service, medical practitioners, and the lupus advocacy group. Informed consent was required for inclusion. Between January 1, 2000 and December 31, 2009, there were 183 new cases of SLE (98% African Caribbean) affecting 172 women and 11 men for unadjusted annual incidence rates of 12.21 (95% confidence interval [95% CI] 10.46-14.18) and 0.84 (95% CI 0.42-1.51) per 100,000 person-years, respectively. Excluding pediatric cases (ages <18 years), the unadjusted incidence rate among women was 15.14 per 100,000 person-years. The principal presenting manifestations were arthritis (84%), nephritis (47%), pleuritis (41.5%), malar rash (36.4%), and discoid lesions (33.1%). Antinuclear antibody positivity was 95%. The overall 5-year survival rate was 79.9% (95% CI 69.6-87.1), decreasing to 68% in patients with nephritis. A total of 226 persons with SLE were alive at the end of the study for point prevalences of 152.6 (95% CI 132.8-174.5) and 10.1 (95% CI 5.4-17.2) per 100,000 among women and men, respectively. Rates of SLE in Barbadian women are among the highest reported to date, with clinical manifestations similar to African American women and high mortality. Further study of this population and similar populations of West African descent might assist our understanding of environmental, genetic, and health care issues underpinning disparities in SLE. Copyright © 2012 by the American College of Rheumatology.

  5. Oral manifestations of HIV/AIDS in Asia: Systematic review and future research guidelines.

    Science.gov (United States)

    Sharma, Gaurav; Oberoi, Sukhvinder-Singh; Vohra, Puneeta; Nagpal, Archna

    2015-07-01

    The authors have conducted a systematic review of oral manifestations of HIV from studies conducted in Asia to establish the characteristics and prevalence of individual oral manifestations in Asia, and to assess the direction of future research studies on oral manifestations of HIV in Asia. The electronic retrieval systems and databases searched for relevant articles were PubMed [MEDLINE], EBSCO, and EMBASE. The search was for limited articles published in English or with an English abstract and articles published during the period January 1995 to August 2014. The authors reached a final overall sample of 39 studies that were conducted in Asia. The median population size among all studies was 312.7 patients. Oral candidiasis [OC] was the most common oral manifestation [37.7%] in studies conducted in Asia. The overall prevalence of oral hairy leukoplakia and melanotic hyperpigmentation was computed to be 10.1% and 22.8% respectively. Thailand and India are primarily countries with maximum research on oral manifestations. The research on oral manifestations of HIV in Asia has to upgrade to more interventional and therapeutic studies rather than the contemporary cross- sectional epidemiological descriptive studies. The authors have given suggestions and future directions for the implementation of clinical research of oral manifestations in HIV patients. Key words:Oral manifestations, HIV/AIDS, Asia, Systematic review.

  6. [Study of echocardiographic parameters of rheumatoid arthritis black African without clinically evident cardiovascular manifestations: A cross-sectional study of 73 cases in Senegal].

    Science.gov (United States)

    Dodo-Siddo, M N; Diao, M; Ndiaye, M B; Ndongo, S; Kane, A; Mbaye, A; Bodian, M; Sarr, S A; Sarr, M; Ba, S; Diop, T M

    2016-04-01

    Research of cardiac involvement in patients with rheumatoid arthritis can prevent complications and place in a logical secondary prevention. The objective of this study was to investigate the echocardiographic parameters in a population of Senegalese patients with rheumatoid arthritis without clinically evident cardiovascular manifestations. We conducted a descriptive cross-sectional study, which included prospectively from outpatients in the internal medicine department of university hospital center Aristide Le Dantec in Dakar, Senegal, with a diagnosis of rheumatoid arthritis without clinically evident cardiovascular disease. It focused on a sample of 73 patients of both sexes aged at least 18 years. Following clinical examination, we conducted laboratory tests (CRP, fibrinogen, ESR, rheumatoid factors: Latex and Waaler-Rose, anti-CCP, antinuclear factors and anti-ENA antibodies), ECG, echocardiography standard. Data were analyzed using a descriptive study of the different variables with the calculation of proportions for categorical variables, and the positional parameters and dispersion for quantitative variables. A total of 73 patients with rheumatoid arthritis without obvious cardiac events and meeting the criteria of definition of the ACR 1987 were included in the study. The mean age was 44.17±14.43 years with extremes of 18 and 75 years. The mean duration of RA was 5.93±4.78 years. The concept of family inflammatory arthritis was reported in 35.60% of cases and almost one in six patients had at least a factor of cardiovascular risk (16.96%). The abnormalities found in Doppler echocardiography were dominated by diastolic LV dysfunction (42.46%), increased left ventricular mass in 35.61%. Valvular leaks of variable grades were highlighted regarding all orifices but were rarely significant. The realization of echocardiography in patients with rheumatoid arthritis without clinically evident cardiovascular manifestations helps to highlight cardiovascular

  7. Psychopathological manifestations of multiple meningiomas in the right hemisphere

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    A. A. Lukshina

    2015-01-01

    Full Text Available The paper gives the data available in the literature on meningiomas and their psychopathological manifestations that occupy a central position in the clinical picture in almost every 5 patients with these tumors. The authors provide a clinical and psychopathological analysis of a female patient with multiple meningiomas in the right hemisphere: a giant meningioma in the posterior third of the falx, a large meningioma in the temporal region, and three small meningiomas in the frontal and parietal regions. The disease started as headache; however, psychopathological symptoms remained missed by physicians, such as emotional lability; personality changes leading to family dissension; lower criticism; spatial orientation problems; hypomnesia; left-sided visual inattention,occurred in parallel. Surgical treatment was performed by stages: the two largest meningiomas were removed at an 11-day interval, which presented a means of observing psychopathological changes after each operation. It is concluded that greater attention should be given to the psychopathological manifestations of the disease, which is important to make a primary diagnosis and to define further treatment policy.

  8. Coffee consumption, metabolic syndrome and clinical severity of psoriasis: good or bad stuff?

    Science.gov (United States)

    Barrea, Luigi; Muscogiuri, Giovanna; Di Somma, Carolina; Annunziata, Giuseppe; Megna, Matteo; Falco, Andrea; Balato, Anna; Colao, Annamaria; Savastano, Silvia

    2018-05-01

    Despite the wide consumption of coffee, its anti-inflammatory effect on clinical severity of psoriasis is still debatable. The aim of this study was to evaluate the association between the coffee consumption and clinical severity of psoriasis in a sample of patients stratified according to the presence of the metabolic syndrome (MetS) and smoking. This cross-sectional case-control observational study was conducted on 221 treatment-naïve psoriatic patients. Lifestyle habits, anthropometric measures, clinical and biochemical evaluations were obtained. Clinical severity of psoriasis was assessed by Psoriasis Area and Severity Index (PASI) score. Data on energy caloric intake and coffee consumption were collected using a 7-day food diary record. The coffee consumption was analyzed as coffee intake (consumers and non-consumers) and daily servings (range 0-4 servings/day). Coffee consumers have a lower PASI score vs non-consumers (p < 0.001). The lowest PASI score and MetS prevalence were found in patients consuming 3 cups of coffee/day (p < 0.001), which was also the most common daily serving (34.8%), whereas the highest PASI score was found among those drinking ≥ 4 cups/day. Grouping the case patients according to smoking and MetS, the best odds of PASI score was observed in those drinking 3 cups of coffee per day and no smokers, after adjusting for total energy intake (OR 74.8; p < 0.001). As a novel finding, we reported a negative association between coffee intake, MetS prevalence and clinical severity of psoriasis. The evaluation of the anti-inflammatory effect of coffee on clinical severity of psoriasis, whose metabolic risk increases along with its clinical severity, could be of great importance from a public health perspective.

  9. Neuropsychiatric manifestation of celiac disease: A case-control study in North India

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    Mahendra Nimel

    2016-01-01

    Full Text Available Background: Celiac disease (CD is an immune-mediated disease dependent on gluten. Prevalence of CD is about 1% and beside gastrointestinal complaints, neuropsychiatric symptoms may represent an atypical feature of CD. Some studies suggest that a gluten-free diet is effective in treating them. Settings and Design: This case-control study of 49 cases was done during the period of January to March 2013. Aim: To know the spectrum of psychiatric manifestations and cognitive functions in children with CD. Materials and Methods: We took 49 diagnosed cases of CD (based on the demonstration of IgA tissue transglutaminase antibodies and duodenal biopsy and compared with demographically matched control group (n = 50 on Seguin Form Board Test for cognitive functions and Behavioral Summarized Evaluation-Revised scale for assessment of psychiatric and behavior disturbances. All possible psychiatric diagnosis was made on the basis of International Statistical Classification of Disease and Related Health Problems-Tenth Revision criteria. Statistical Analysis: Statistical analyses were done by using Chi-square test and two-tailed P-values. Results: Neuropsychiatric manifestations were seen in 29% of cases as against 4% of controls which was statistically significant (P=0.001. Only four cases and 1 control fount to be mild mental retardation (P = 0.16. Autism, dyslexia, developmental delay, disruptive behavior disorder, and tic disorder present in cases were not found. Conclusion: Clinical manifestations of CD vary from typical malabsorption syndrome to neuropsychiatric manifestations. Those psychiatric patients who are not responding to standard pharmacological modalities, a diagnosis of CD should be taken into consideration. Only behavioral problem can be the sole clinical manifestation of CD.

  10. A practical approach to ichthyoses with systemic manifestations.

    Science.gov (United States)

    Saral, S; Vural, A; Wollenberg, A; Ruzicka, T

    2017-06-01

    Inherited ichthyoses are rare disorders in terms of patient numbers, but abundant in terms of clinical-genetic subtypes. These disorders are often associated with severe systemic manifestations, in addition to significant medical, cosmetic and social problems. There are 17 subtypes of syndromic ichthyosis identified so far and most patients with these syndromes are living in countries with high consanguinity rates. Frequently, clinicians cannot make a definitive diagnosis and patients are not managed properly owing to the rarity and complexity of these disorders. These difficulties make this group of ichthyosis and the patients living with them 'orphan'. After skin and skin appendages, nervous system is the most frequently involved system in ichthyosis syndromes. Thus, association of ichthyosis with neurological symptoms provides an important clue for diagnosis. In this article, we aim to increase clinicians' comprehension of ichthyosis syndromes by providing a symptomatology-based approach based on this observation. Additionally, we provide a review of ichthyosis syndromes, with special emphasis on neurological symptoms, hoping to attract interest to this complicated field. © 2016 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

  11. Neurological manifestations in HIV positive patients in Tehran, Iran

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    Minoo Mohraz

    2014-02-01

    Full Text Available Objective: To evaluate the neurological complications among Iranian HIV-positive patients. Methods: This cross-sectional study was conducted among 428 patients diagnosed with HIV infection between 2006 and 2009 at Imam Khomeini hospital, Tehran, Iran. Demographic and clinical variables as well as laboratory tests were extracted and analyzed. Also, another 100 patients refereed to Voluntary Counseling and Testing center of the hospital were visited and evaluated for neurological complications. Results: Among the patients, neurologic manifestations were observed in 34 (7.94% patients. Twenty three percent of the patients received antiretroviral therapy. Identified causes included brain toxoplasmosis (14.7%, progressive multi-focal leuko encephalopathy (5.9%, HIV encephalopathy (5.9%, TB meningitis (5% and unknown etiologies (11.8%. Also, among 100 patients who were admitted and visited at the Voluntary Counseling and Testing center, no one was diagnosed for any neurological manifestations. Conclusions: According to our results, toxoplasmosis is the most frequent cause of neurological conditions among Iranian HIV infected patients and should be considered in any HIV/AIDS patient with neurological manifestations.

  12. Pattern of cutaneous manifestations in diabetes mellitus

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    Goyal Abhishek

    2010-01-01

    Full Text Available Background: Diabetes mellitus affects individuals of all ages and socioeconomic status. Skin is affected by the acute metabolic derangements as well as by chronic degenerative complications of diabetes. Aims: To evaluate the prevalence of skin manifestations in patients with diabetes mellitus. To analyze the prevalence and pattern of skin disorders among diabetic patients from this region of Western Himalayas. Materials and Methods: One hundred consecutive patients with the diagnosis of diabetes mellitus and having skin lesions, either attending the diabetic clinic or admitted in medical wards were included in this study. Results: The common skin disorders were: x0 erosis (44%, diabetic dermopathy (36%, skin tags (32%, cutaneous infections (31%, and seborrheic keratosis (30%. Conclusion: Skin is involved in diabetes quite often and the manifestations are numerous. High prevalence of xerosis in our diabetic population is perhaps due to cold and dry climatic conditions in the region for most of the time in the year.

  13. Oral Crohn′s disease without intestinal manifestations

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    Gingisetty Harikishan

    2012-01-01

    Full Text Available Crohn′s disease is a granulomatous inflammatory bowel disease and was described in 1932 as a chronic granulomatous disorder of the terminal ileum and is now considered a distinct member of the inflammatory bowel disease family. It may affect any part of the gastrointestinal tract. Oral Crohn′s disease has been reported frequently in the last three decades with or without intestinal manifestations. In the latter case, it is considered as one of the orofacial granulomatosis. There has been much doubt whether intestinal manifestations of Crohn′s disease will eventually develop in the orofacial granulomatosis. We present a female patient aged 22 years with prominent clinical findings such as persistent swelling of lower and upper lip with fissuring and angular cheilitis, granulomatous gingival enlargement, and cobblestone or corrugated appearance of labial mucosa, which are suggestive of Crohn′s disease, but with no evidence of other gastrointestinal involvement. The patient underwent surgical treatment with external gingivectomy procedure. A 6-month follow-up showed minimal recurrence.

  14. EXTRAGASTRIC AND ORODENTAL MANIFESTATIONS IN PEDIATRIC INFECTION WITH HELICOBACTER PYLORI. A REVIEW

    OpenAIRE

    Smaranda DIACONESCU; Raluca STANCA; Maria BOLAT

    2015-01-01

    Helicobacter pylori is a worlwide spread infection mostly manifested in childhood. Many - both invasive and non-invasive diagnostic tests - are now available,. The colonisation effect of gastric mucosa and its consequences are well known and studied. H. pylori can also induce extra-gastric manifestations, like iron-deficiency anemia. The role of oral cavity colonisation is not clearly defined, several studies stating that the oral cavity represents a reservoir for H. pyloris. The presence of ...

  15. CLINICAL AND MORPHOLOGICAL CHARACTERISTICS OF TUBERCULOUS PLEURISY MANIFESTATIONS IN THOSE WITH ALCOHOL ADDICTION

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    N. A. Stogova

    2017-01-01

    Full Text Available Goal of the study: to study specific features of detection, diagnostics, clinical, morphological manifestations and treatment efficiency of tuberculous exudative pleurisy in those with alcohol addiction.Materials and methods. 62 medical cases of those suffering from exudative tuberculous pleurisy were retrospectively studied, in whom alcohol addiction was diagnosed basing on the patient's history and examination by the substance abuse doctor. Tuberculous pleurisy was verified in 80.65% of cases.  Results: Alcohol addiction was diagnosed in 15% of those suffering from tuberculous pleurisy. Among patients with alcohol addiction 47% were 30 years old and older, and they were single, 11% lived alone, 76% were the unemployed but within employable age, 27% had previous convictions, and 10% were homeless. More than 27% of patients had not have fluorography screening for 2 years and more. In 53% of cases pleurisy was combined with concurrent pulmonary lesions and in 27% of cases respiratory lesions were bilateral. Destruction of lung tissue was observed in 42% of cases, and in 35.5% tuberculosis mycobacteria were found in sputum. Caseous necrosis was found in 7.5% of cases, epithelioid giant-cell granulomas were found in 64% of cases, and caseous necrosis in granulemas was found in 44% of cases when examining the needle biopsy specimens. Poor treatment adherence and low treatment efficiency had been observed among those patients.

  16. Malnutrition and clinical manifestations in school going children at district tharparkar, sindh, pakistan

    International Nuclear Information System (INIS)

    Kapoor, A.; Channa, N.A.; Soomro, A.M.; Tunio, S.A.; Khand, T.U.; Memon, N.

    2017-01-01

    Malnutrition and clinical manifestation in school going children of Tharparkar District Methodology: The study subjects were school going children of class VI to X from different boys and girls schools at Mithi, District Tharparkar. A total number of 300 children with age range of 12-17 years, were included, out of which 150 (50%) were girls and 150 (50%) were boys. General physical examination was carried out for all the subjects. Estimated nutrient intake of energy, carbohydrates, protein, fat and iron was calculated by one week recall method. Anthropometric measurements such as weight, and height, were taken by using the standard operating procedures. Results: General physical examination revealed generalized weakness, recurrent infection and anemia were the most commonly seen in the school going children at district Tharparkar. Nutritional status of children according to the age for height showed 32% girls and 34% boys were stunt whereas the of age for weight showed 34% girls and 39% boys were underweight. The body mass index for age showed 16% girls and 34% boys were thin. Only 2.6 % girls and boys were overweight, but we didn't find any obese children. Conclusion: It is concluded that energy (caloric) carbohydrates, protein, and iron are below recommended daily allowance, which reflects the malnutrition in children. Inadequate intake of nutrients has the effect on height, weight and body mass index. (author)

  17. Lower Functional Connectivity of the Periaqueductal Gray Is Related to Negative Affect and Clinical Manifestations of Fibromyalgia

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    Marie-Andrée Coulombe

    2017-06-01

    Full Text Available Fibromyalgia (FM syndrome is characterized by chronic widespread pain, muscle tenderness and emotional distress. Previous studies found reduced endogenous pain modulation in FM. This deficiency of pain modulation may be related to the attributes of chronic pain and other clinical symptoms experienced in patients with FM. Thus, we tested whether there is a link between the clinical symptoms of FM and functional connectivity (FC of the periaqueductal gray (PAG, a key node of pain modulation. We acquired resting state 3T functional MRI (rsfMRI data from 23 female patients with FM and 16 age- and sex- matched healthy controls (HC and assessed FM symptoms with the Brief Pain Inventory (BPI, Fibromyalgia Impact Questionnaire (FIQ, Hospital Anxiety and Depression Scale (HADS and Pain Catastrophizing Scale (PCS. We found that patients with FM exhibit statistically significant disruptions in PAG FC, particularly with brain regions implicated in negative affect, self-awareness and saliency. Specifically, we found that, compared to HCs, the FM patients had stronger PAG FC with the lingual gyrus and hippocampus but weaker PAG FC with regions associated with motor/executive functions, the salience (SN and default mode networks (DMN. The attenuated PAG FC was also negatively correlated with FIQ scores, and positively correlated with the magnification subscale of the PCS. These alterations were correlated with emotional and behavioral symptoms of FM. Our study implicates the PAG as a site of dysfunction contributing to the clinical manifestations and pain in FM.

  18. [Clinical and neurophysiological aspects of severe forms of autism in children].

    Science.gov (United States)

    Simashkova, N V; Iakupova, L P; Bashina, V M

    2006-01-01

    The aim of the study was to elucidate fundamentals for the phenomenon of universality of childhood autism by comparison of clinical and neurophysiological features of its severest forms--children endogenous autism (CEA) and Rett's syndrome (RS). Each group included 20 patients. Both groups were similar by age-at-disease-onset, clinical appearances during the disease course and dynamics of psychopathological syndromes. The theta-rhythm is common for CEA and RS at the disease stage with marked signs of disease acuity, autism, regress and, therefore, may be regarded as a marker of severity and development delay. The universality of autism phenomenon in its severe forms was confirmed both at the clinical and neurophysiological levels.

  19. Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations

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    Limor Man

    2017-09-01

    Full Text Available Fragile X syndrome (FXS, is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55–200 CGG repeats allele. PM is associated with phenotypes distinct from those associated with FM. Some manifestations of the PM are unique; fragile-X-associated tremor/ataxia syndrome (FXTAS, and fragile-X-associated primary ovarian insufficiency (FXPOI, while others tend to be non-specific such as intellectual disability. In addition, women carrying a PM may suffer from subfertility or infertility. There is a need to elucidate whether the impairment of ovarian function found in PM carriers arises during the primordial germ cell (PGC development stage, or due to a rapidly diminishing oocyte pool throughout life or even both. Due to the possibility of expansion into a FM in the next generation, and other ramifications, carrying a PM can have an enormous impact on one’s life; therefore, preconception counseling for couples carrying the PM is of paramount importance. In this review, we will elaborate on the clinical manifestations in female PM carriers and propose the definition of fragile-X-associated diminished ovarian reserve (FXDOR, then we will review recent scientific findings regarding possible mechanisms leading to FXDOR and FXPOI. Lastly, we will discuss counseling, preventative measures and interventions available for women carrying a PM regarding different aspects of their reproductive life, fertility treatment, pregnancy, prenatal testing, contraception and fertility preservation options.

  20. Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.

    Science.gov (United States)

    Man, Limor; Lekovich, Jovana; Rosenwaks, Zev; Gerhardt, Jeannine

    2017-01-01

    Fragile X syndrome (FXS), is caused by a loss-of-function mutation in the FMR1 gene located on the X-chromosome, which leads to the most common cause of inherited intellectual disability in males and the leading single-gene defect associated with autism. A full mutation (FM) is represented by more than 200 CGG repeats within the FMR1 gene, resulting in FXS. A FM is inherited from women carrying a FM or a premutation (PM; 55-200 CGG repeats) allele. PM is associated with phenotypes distinct from those associated with FM. Some manifestations of the PM are unique; fragile-X-associated tremor/ataxia syndrome (FXTAS), and fragile-X-associated primary ovarian insufficiency (FXPOI), while others tend to be non-specific such as intellectual disability. In addition, women carrying a PM may suffer from subfertility or infertility. There is a need to elucidate whether the impairment of ovarian function found in PM carriers arises during the primordial germ cell (PGC) development stage, or due to a rapidly diminishing oocyte pool throughout life or even both. Due to the possibility of expansion into a FM in the next generation, and other ramifications, carrying a PM can have an enormous impact on one's life; therefore, preconception counseling for couples carrying the PM is of paramount importance. In this review, we will elaborate on the clinical manifestations in female PM carriers and propose the definition of fragile-X-associated diminished ovarian reserve (FXDOR), then we will review recent scientific findings regarding possible mechanisms leading to FXDOR and FXPOI. Lastly, we will discuss counseling, preventative measures and interventions available for women carrying a PM regarding different aspects of their reproductive life, fertility treatment, pregnancy, prenatal testing, contraception and fertility preservation options.

  1. Imaging manifestations and its clinical significance in patients with oncogenic osteomalacia

    International Nuclear Information System (INIS)

    Yu Wei; Lin Qiang; Zhang Yunqing; Jiang Bo; Jin Jin; Jiang Yan; Li Mei; Li Fang

    2006-01-01

    Objective: To compare images from different modality for detecting lesions in patients with oncogenic osteomalacia. Methods: Eight patients with oncogenic osteomalacia were recruited in this study. The age ranged from 28 to 69 years (mean age 44.1, 5 men and 3 women). All patients were diagnosed as osteomalacia according to their clinical and radiographic manifestations. Main laboratory tests included serum calcium, phosphorus, alkaline phosphatase activity, parathyroid hormone, urinary phosphorus as well as liver and renal functions. Octreotide scans were performed for all patients according to clinical request for confirming the oncogenic osteomalacia. Further examinations of MR imaging in 8 patients, spiral CT in four patients and conventional radiography in four patients were obtained after the octreotide scans respectively. All patients had operation for their tumor resections and for the pathologic diagnostic findings. Results: Abnormal laboratory findings in all patients included low serum phosphorus level (ranged from 0.29 to 0.65 mmol·L -1 ), elevated alkaline phosphatase activity (ranged from 36. 6 to 310.6 μmol·s -1 ·L -1 ) as well as urinary phosphorus level (ranged from 11.5 to 40. 9 mmol·L -1 ). Normal results included parathyroid hormone level, liver and renal functions. Pathology confirmed the diagnosis of 4 soft tissue tumors including 1 hemangiomas, 1 giant-cell tumor of tendon sheath, 1 hemangiopericytoma and 1 mesenchymal tumor, as well as 4 bone tumors including 1 malignant neurofibroma, 2 mesenchymal tumors and 1 fibroblastoma. All lesions were shown abnormal region of increasing uptake tracer on octreotide scans. However, the octreotide scans could not determine where (bone or soft tissues) the lesions located. MR imaging could differentiate the lesions within the bone or within the soft tissues in all patients. All lesions had hypo- or iso- signal intensity on T 1 WI and high signal intensity on T 2 WI with heterogeneous in 6 tumors and

  2. Autoimmune manifestations in SCID due to IL7R mutations: Omenn syndrome and cytopenias.

    Science.gov (United States)

    Zago, Claudia Augusta; Jacob, Cristina Miuki Abe; de Albuquerque Diniz, Edna Maria; Lovisolo, Silvana Maria; Zerbini, Maria Claudia Nogueira; Dorna, Mayra; Watanabe, Letícia; Fernandes, Juliana Folloni; Rocha, Vanderson; Oliveira, João Bosco; Carneiro-Sampaio, Magda

    2014-07-01

    B+NK+SCID (severe combined immunodeficiency) due to IL7Rα deficiency represents approximately 10% of American SCID cases. To better understand the spectrum of autoimmune disorders associated with IL7Rα deficiency, we describe two unrelated IL7Rα-deficient female SCID infants whose clinical picture was dominated by autoimmune manifestations: one with intrauterine Omenn syndrome (OS) and another with persistent thrombocytopenic purpura since 4months of age. The OS baby harbored a homozygous p.C118Y mutation in IL7R. She presented dense eosinophilic infiltrates in several organs, including pancarditis, which may have contributed to her death (on the 2nd day of life). B cells were observed in lymph nodes, spleen, bone marrow and thymus. The second patient harbored compound heterozygous p.C118Y and p.I121NfsX8 mutations. She underwent a successful unrelated cord blood transplant. In conclusion, early OS can be observed in patients with IL7R mutations, and autoimmune cytopenias could also complicate the clinical course of SCID babies with this type of defect. Copyright © 2014. Published by Elsevier Inc.

  3. Evaluation of Acne Quality of Life and Clinical Severity in Acne Female Adults

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    Amal Kokandi

    2010-01-01

    Full Text Available Acne is a common disease especially among teenagers. It has a considerable psychological impact on affected individuals. The aim of this paper was to assess if the effect of acne on acne-related quality of life is correlated to acne clinical severity. 112 university female students attending the university medical clinics with acne complaints were examined. Cardiff Acne Disability Index (CADI was used to assess acne-related quality of life, and global acne grading system (GAGS was used to assess clinical severity of acne. There was no correlation between acne severity (GAGS scoring system and quality of life impairment as assessed by CADI score (=0.145, =.127. Additionally, CADI score did not correlate with disease duration or age of patients. We therefore conclude that acne clinical severity alone does not affect acne-related quality of life changes. Many other factors might play a role.

  4. Dengue encephalitis–A rare manifestation of dengue fever

    OpenAIRE

    Madi, Deepak; Achappa, Basavaprabhu; Ramapuram, John T; Chowta, Nityananda; Laxman, Mridula; Mahalingam, Soundarya

    2014-01-01

    The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with...

  5. Clinical Manifestations of Kaposi Sarcoma Herpesvirus Lytic Activation: Multicentric Castleman Disease (KSHV-MCD) and the KSHV Inflammatory Cytokine Syndrome.

    Science.gov (United States)

    Polizzotto, Mark N; Uldrick, Thomas S; Hu, Duosha; Yarchoan, Robert

    2012-01-01

    Soon after the discovery of Kaposi sarcoma (KS)-associated herpesvirus (KSHV), it was appreciated that this virus was associated with most cases of multicentric Castleman disease (MCD) arising in patients infected with human immunodeficiency virus. It has subsequently been recognized that KSHV-MCD is a distinct entity from other forms of MCD. Like MCD that is unrelated to KSHV, the clinical presentation of KSHV-MCD is dominated by systemic inflammatory symptoms including fevers, cachexia, and laboratory abnormalities including cytopenias, hypoalbuminemia, hyponatremia, and elevated C-reactive protein. Pathologically KSHV-MCD is characterized by polyclonal, IgM-lambda restricted plasmacytoid cells in the intrafollicular areas of affected lymph nodes. A portion of these cells are infected with KSHV and a sizable subset of these cells express KSHV lytic genes including a viral homolog of interleukin-6 (vIL-6). Patients with KSHV-MCD generally have elevated KSHV viral loads in their peripheral blood. Production of vIL-6 and induction of human (h) IL-6 both contribute to symptoms, perhaps in combination with overproduction of IL-10 and other cytokines. Until recently, the prognosis of patients with KSHV-MCD was poor. Recent therapeutic advances targeting KSHV-infected B cells with the anti-CD20 monoclonal antibody rituximab and utilizing KSHV enzymes to target KSHV-infected cells have substantially improved patient outcomes. Recently another KSHV-associated condition, the KSHV inflammatory cytokine syndrome (KICS) has been described. Its clinical manifestations resemble those of KSHV-MCD but lymphadenopathy is not prominent and the pathologic nodal changes of KSHV-MCD are absent. Patients with KICS exhibit elevated KSHV viral loads and elevation of vIL-6, homolog of human interleukin-6 and IL-10 comparable to those seen in KSHV-MCD; the cellular origin of these is a matter of investigation. KICS may contribute to the inflammatory symptoms seen in some patients with

  6. Clinical Manifestations of Kaposi Sarcoma Herpesvirus Lytic Activation: Multicentric Castleman Disease (KSHV–MCD) and the KSHV Inflammatory Cytokine Syndrome

    Science.gov (United States)

    Polizzotto, Mark N.; Uldrick, Thomas S.; Hu, Duosha; Yarchoan, Robert

    2012-01-01

    Soon after the discovery of Kaposi sarcoma (KS)-associated herpesvirus (KSHV), it was appreciated that this virus was associated with most cases of multicentric Castleman disease (MCD) arising in patients infected with human immunodeficiency virus. It has subsequently been recognized that KSHV–MCD is a distinct entity from other forms of MCD. Like MCD that is unrelated to KSHV, the clinical presentation of KSHV–MCD is dominated by systemic inflammatory symptoms including fevers, cachexia, and laboratory abnormalities including cytopenias, hypoalbuminemia, hyponatremia, and elevated C-reactive protein. Pathologically KSHV–MCD is characterized by polyclonal, IgM-lambda restricted plasmacytoid cells in the intrafollicular areas of affected lymph nodes. A portion of these cells are infected with KSHV and a sizable subset of these cells express KSHV lytic genes including a viral homolog of interleukin-6 (vIL-6). Patients with KSHV–MCD generally have elevated KSHV viral loads in their peripheral blood. Production of vIL-6 and induction of human (h) IL-6 both contribute to symptoms, perhaps in combination with overproduction of IL-10 and other cytokines. Until recently, the prognosis of patients with KSHV–MCD was poor. Recent therapeutic advances targeting KSHV-infected B cells with the anti-CD20 monoclonal antibody rituximab and utilizing KSHV enzymes to target KSHV-infected cells have substantially improved patient outcomes. Recently another KSHV-associated condition, the KSHV inflammatory cytokine syndrome (KICS) has been described. Its clinical manifestations resemble those of KSHV–MCD but lymphadenopathy is not prominent and the pathologic nodal changes of KSHV–MCD are absent. Patients with KICS exhibit elevated KSHV viral loads and elevation of vIL-6, homolog of human interleukin-6 and IL-10 comparable to those seen in KSHV–MCD; the cellular origin of these is a matter of investigation. KICS may contribute to the inflammatory symptoms seen in some

  7. X-ray diagnosis and treatment for severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease

    International Nuclear Information System (INIS)

    Wang Cheng; Zhao Shihua; Jiang Shiliang; Huang Lianjun; Xu Zhongying; Ling Jian; Zheng Hong; Xie Ruolan; Lu Minjie

    2005-01-01

    Objective: To study the radiological features of severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease so as to make early diagnosis and treatment. We also intend to find the mechanism of these complications. Methods: A total of 9 pediatric cases with severe respiratory complications during cardiac catheterizations were included in the study. The clinical manifestations, radiological features, and corresponding treatments were reviewed. Results: Most of the cases had severe hypoxia, with 6 cases presenting with bradycardia. Opacification of two lung fields was found in 7 cases, pulmonary edema in 1 case, and atelectasis of the upper right lung in 1 case. With intubation, oxygen inhalation and administration of certain drugs, all cases were saved except 1 case with pulmonary edema. Conclusion: Severe respiratory complications during cardiac catheterizations on pediatric congenital heart disease are emergent and critical, and they often presented with various manifestations. Early diagnosis and correct treatment are the key to successful salvage. (authors)

  8. Eosinophilic ascites due to severe eosinophilic ileitis

    Directory of Open Access Journals (Sweden)

    Setia Namrata

    2010-01-01

    Full Text Available Background: There is a broad etiology for effusion eosinophilia that includes allergic, reactive, infectious, immune, neoplastic, and idiopathic causes. We report and describe the cytomorphologic findings of a rare case of eosinophilic ascites due to severe eosinophilic ileitis. Case Presentation: A 17-year-old male manifested acutely with eosinophilic ascites due to severe biopsy-proven subserosal eosinophilic ileitis. Isolated peritoneal fluid submitted for cytologic evaluation revealed that 65% eosinophils were present in a bloody background. The patient responded to corticosteroids, with complete resolution of his ascites. Conclusion: Eosinophilic gastroenteritis with subserosal involvement should be added to the list of causes for eosinophils in peritoneal fluid. The finding of eosinophilic ascites, with appropriate clinical and laboratory findings, may warrant the need to perform laparoscopic intestinal biopsies to confirm the diagnosis.

  9. Acute gouty arthritis and rapidly progressive renal failure as manifestation of multiple myeloma: clinical case description

    Directory of Open Access Journals (Sweden)

    O.V. Gudym

    2017-08-01

    study of the bone marrow completely confirmed the diagnosis of multiple myeloma. The presented clinical case is interesting because multiple myeloma clinically debuted with acute gouty arthritis, eclipsing the clinical manifestations of kidney damage and other symptoms.

  10. Tofacitinib attenuates arthritis manifestations and reduces the pathogenic CD4 T cells in adjuvant arthritis rats.

    Science.gov (United States)

    Gertel, Smadar; Mahagna, Hussein; Karmon, Gidi; Watad, Abdulla; Amital, Howard

    2017-11-01

    Rheumatoid arthritis (RA) is an autoimmune disease characterized by pronounced inflammation and leukocyte infiltration in affected joints. Tofacitinib is new agent, a selective inhibitor of Janus kinase (JAK) signaling pathways mediated by JAK1 and JAK3 and inhibits the key transcription factors STAT1 and STAT3. We investigated the action mechanisms of tofacitinib in rats with adjuvant-induced-arthritis (AIA). AIA-rats were treated orally with tofacitinib or with methotrexate. Arthritis severity and serum C-reactive protein (CRP) levels were evaluated, splenic cells were examined by flow cytometry and cytokines were analyzed by real-time PCR. Tofacitinib markedly reduced the clinical status of treated rats in comparison to control group. Reduced joints inflammation and down-regulated serum CRP levels reflected the clinical manifestations of the treated rats. Tofacitinib down-regulated significantly the frequency of CD4 + IFN-γ + T cells and reduced IL-1β mRNA expression levels in the spleen of the treated rats. These results show that tofacitinib attenuated arthritis severity, modified splenic populations and cytokine imbalance. Copyright © 2017. Published by Elsevier Inc.

  11. Liver function in Huntington's disease assessed by blood biochemical analyses in a clinical setting

    DEFF Research Database (Denmark)

    Nielsen, Signe Marie Borch; Vinther-Jensen, Tua; Nielsen, Jørgen E.

    2016-01-01

    dysfunction are seen. Blood levels of a wide range of hormones, metabolites and proteins have been analyzed in HD patients, identifying several changes associated with the disease. However, a comprehensive panel of liver function tests (LFT) has not been performed. We investigated a cohort of manifest......Huntington's disease (HD) is a dominantly inherited, progressive neurological disorder caused by a CAG repeat elongation in the huntingtin gene. In addition to motor-, psychiatric- A nd cognitive dysfunction, peripheral disease manifestations in the form of metabolic changes and cellular...... and premanifest HD gene-expansion carriers and controls, using a clinically applied panel of LFTs. Here, we demonstrate that the level of alkaline phosphatase is increased in manifest HD gene-expansion carriers compared to premanifest HD gene-expansion carriers and correlate with increased disease severity...

  12. Assessment and manifestation of central sensitisation across different chronic pain conditions.

    Science.gov (United States)

    Arendt-Nielsen, L; Morlion, B; Perrot, S; Dahan, A; Dickenson, A; Kress, H G; Wells, C; Bouhassira, D; Mohr Drewes, A

    2018-02-01

    Different neuroplastic processes can occur along the nociceptive pathways and may be important in the transition from acute to chronic pain and for diagnosis and development of optimal management strategies. The neuroplastic processes may result in gain (sensitisation) or loss (desensitisation) of function in relation to the incoming nociceptive signals. Such processes play important roles in chronic pain, and although the clinical manifestations differ across condition processes, they share some common mechanistic features. The fundamental understanding and quantitative assessment of particularly some of the central sensitisation mechanisms can be translated from preclinical studies into the clinic. The clinical perspectives are implementation of such novel information into diagnostics, mechanistic phenotyping, prevention, personalised treatment, and drug development. The aims of this paper are to introduce and discuss (1) some common fundamental central pain mechanisms, (2) how they may translate into the clinical signs and symptoms across different chronic pain conditions, (3) how to evaluate gain and loss of function using quantitative pain assessment tools, and (4) the implications for optimising prevention and management of pain. The chronic pain conditions selected for the paper are neuropathic pain in general, musculoskeletal pain (chronic low back pain and osteoarthritic pain in particular), and visceral pain (irritable bowel syndrome in particular). The translational mechanisms addressed are local and widespread sensitisation, central summation, and descending pain modulation. Central sensitisation is an important manifestation involved in many different chronic pain conditions. Central sensitisation can be different to assess and evaluate as the manifestations vary from pain condition to pain condition. Understanding central sensitisation may promote better profiling and diagnosis of pain patients and development of new regimes for mechanism based

  13. Cervical Spine Involvement as Initial Manifestation of Rheumatoid Arthritis: a case report

    Directory of Open Access Journals (Sweden)

    Filipe Araújo

    2015-01-01

    Full Text Available Rheumatoid arthritis’ synovitis affects mostly small hand and feet joints, although it may compromise any joint with a synovial lining. Cervical involvement occurs usually in longstanding disease in over half of these patients. We report the case of a 35-year old male patient who was referred to our outpatient clinic for a 2-year severe and disabling inflammatory neck pain, with incomplete response to intramuscular non-steroidal anti-inflammatory drugs and unremarkable cervical imaging studies. He also mentioned self-limited episodes of symmetric polyarthralgia involving hands, wrists, elbows, knees and feet, which started after his cervical complaints. On laboratorial workup, positive rheumatoid factor and anti-citrullinated peptide antibody and negative HLA-B27 were found. Cervical spine magnetic resonance imaging revealed atlantoaxial subluxation and odontoid process inflammatory pannus and erosions. Rheumatoid arthritis with cervical spine involvement as initial manifestation of disease was the definite diagnosis. The patient was started on methotrexate and prednisone and he was referred to neurosurgery outpatient clinic for cervical spine fixation.

  14. [Study on the heterogeneity of edema in severe preeclampsia].

    Science.gov (United States)

    Shi, Junmei; Yang, Zi; Chen, Lei

    2014-05-06

    The aim of this study was to analysis the clinical edema forms and explore the heterogeneity of edema in severe preeclampsia (PE) . From February 2002 to February 2009, Peking University Third Hospital admitted with severe preeclampsia 228 cases who were enrolled in this study. The form is divided into no edema (A-type), pure interstitial edema (B-type), a simple cavity gap edema (C-type) and mixed interstitial edema that coexist with lacunar edema (D-type). Analysis and comparison of various types of edema in patients with different clinical manifestations of prenatal care models, laboratory parameters, the incidence of gestational age, complications and obstetric and perinatal outcomes, and analyze the relationship between different types of edema and albumins and the peak value of proteinuria. Edema was seen in 86% (197/228) of all of cases. Compared the cases who have regular prenatal care with those who have irregular care, differences were statistically significant in edema type composition ratio (P 0.05); Compared early-onset PE and late-onset PE patients, differences were statistically significant in edema type composition ratio (P 0.05). Comparison between the various types of edema, differences were statistically significant in serum albumin levels and peak value of proteinuria and incidence of serious complications and the gestational week at PE onset and the incidence of treatment preterm labor (P edema(P edema were correlated with serum albumin levels (r = -0.19, P 0.05). The manifestations of edema were diverse in severe preeclampsia. The forms of edema were related to the PE onset of gestational age and serious complication involving in different organs.Strengthen prenatal care and early detection of edema may improve adverse obstetric outcomes.

  15. [Rapidly progressive compromise of cranial pairs as neurosyphilis manifestation].

    Science.gov (United States)

    Baccaro, Fernando; Moldes, Sofía; Novelli Poisson, Paola; Arduin, Julieta; Valerga, Mario

    2012-01-01

    Syphilis remains a common disease throughout the world, being neurosyphilis a relatively common manifestation. A case of a 34 years old male with HIV and neurosyphilis is presented, characterized by a clinical course evidenced by progressive palsy of cranial nerves. This case is unusual and a rare presentation of progressive cranial involvement with swallowing deficit, have found no similar data in the literature.

  16. Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

    DEFF Research Database (Denmark)

    Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

    2010-01-01

    Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic......, metabolic, dermatologic (mucocutaneous), ophthalmologic, hepatobiliary, hematologic, thromboembolic, urinary tract, pulmonary, and pancreatic extraintestinal manifestations related to IBD. Articles were identified through search of the PubMed and Embase databases, the Cochrane Library, and the web sites......', 'thromboembolism', and 'treatment'. The search was performed on English-language reviews, practical guidelines, letters, and editorials. Articles were selected based on their relevance, and additional papers were retrieved from their reference lists. Since some of the diseases discussed are uncommon, valid...

  17. Epidemiology and clinical manifestations of enteroaggregative Escherichia coli

    DEFF Research Database (Denmark)

    Hebbelstrup Jensen, Betina; Olsen, Katharina E P; Struve, Carsten

    2014-01-01

    Enteroaggregative Escherichia coli (EAEC) represents a heterogeneous group of E. coli strains. The pathogenicity and clinical relevance of these bacteria are still controversial. In this review, we describe the clinical significance of EAEC regarding patterns of infection in humans, transmission...

  18. Severe hyperthyroidism: aetiology, clinical features and treatment outcome.

    Science.gov (United States)

    Iglesias, P; Dévora, O; García, J; Tajada, P; García-Arévalo, C; Díez, J J

    2010-04-01

    Severe hyperthyroidism (SH) is a serious medical disorder that can compromise life. There have not been systematic studies in which SH has been evaluated in detail. Here, our aims were: (1) to analyse both clinical and analytical features and outcome in patients with SH and (2) to compare these data with those found in more usual forms of hyperthyroidism. Patients and methods All patients diagnosed of SH (free thyroxine, FT4 > 100 pmol/l, NR: 11-23) seen in our endocrinology clinic in the last 15 years were studied and compared with a sample of patients with mild (mH; FT4, 23-50 pmol/l) and moderate (MH; FT4, 51-100 pmol/l) hyperthyroidism. Aetiology, clinical analytical and imaging data at diagnosis, therapeutic response and outcome were registered. Results A total of 107 patients with overt hyperthyroidism (81 females, mean age +/- SD 46.9 +/- 16.1 years) were evaluated. We studied a historic group with SH (n = 21; 14 females, 40.9 +/- 17.2 years) and, as a comparator group, we analyszed the data of 86 hyperthyroid patients (67 females, 48.4 +/- 15.5.6 years, NS) comparable in age and gender. The comparator group was classified in MH (n = 37, 26 females, 47.2 +/- 16.6 years) and mH (n = 49, 41 females, 49.4 +/- 14.8 years). In comparison with mH group, SH patients were significantly (P hyperthyroidism. FT4 was the only independent predictor of cure [OR 0.98 (CI 95%, 0.97-0.99), P hyperthyroidism is usually de novo and is accompanied by more clinical signs, symptoms, and analytical derangements, as well as higher titres of TRAb at diagnosis than milder forms of hyperthyroidism. The present data are not able to show differences in treatment modality, time to achieve cure, and remission rate among patients with mild, moderate and severe hyperthyroidism.

  19. Surgical manifestations of filariasis

    Directory of Open Access Journals (Sweden)

    Subrahmanyam M

    1978-01-01

    Full Text Available Surgical manifestations of filariasis as seen in 150 cases over a period of three years in the department of Surgery, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha are reviewed. The genital manifestations are more common than the elephantiasis in this endemic zone.

  20. A Clinical Prediction Algorithm to Stratify Pediatric Musculoskeletal Infection by Severity

    Science.gov (United States)

    Benvenuti, Michael A; An, Thomas J; Mignemi, Megan E; Martus, Jeffrey E; Mencio, Gregory A; Lovejoy, Stephen A; Thomsen, Isaac P; Schoenecker, Jonathan G; Williams, Derek J

    2016-01-01

    Objective There are currently no algorithms for early stratification of pediatric musculoskeletal infection (MSKI) severity that are applicable to all types of tissue involvement. In this study, the authors sought to develop a clinical prediction algorithm that accurately stratifies infection severity based on clinical and laboratory data at presentation to the emergency department. Methods An IRB-approved retrospective review was conducted to identify patients aged 0–18 who presented to the pediatric emergency department at a tertiary care children’s hospital with concern for acute MSKI over a five-year period (2008–2013). Qualifying records were reviewed to obtain clinical and laboratory data and to classify in-hospital outcomes using a three-tiered severity stratification system. Ordinal regression was used to estimate risk for each outcome. Candidate predictors included age, temperature, respiratory rate, heart rate, C-reactive protein, and peripheral white blood cell count. We fit fully specified (all predictors) and reduced models (retaining predictors with a p-value ≤ 0.2). Discriminatory power of the models was assessed using the concordance (c)-index. Results Of the 273 identified children, 191 (70%) met inclusion criteria. Median age was 5.8 years. Outcomes included 47 (25%) children with inflammation only, 41 (21%) with local infection, and 103 (54%) with disseminated infection. Both the full and reduced models accurately demonstrated excellent performance (full model c-index 0.83, 95% CI [0.79–0.88]; reduced model 0.83, 95% CI [0.78–0.87]). Model fit was also similar, indicating preference for the reduced model. Variables in this model included C-reactive protein, pulse, temperature, and an interaction term for pulse and temperature. The odds of a more severe outcome increased by 30% for every 10-unit increase in C-reactive protein. Conclusions Clinical and laboratory data obtained in the emergency department may be used to accurately

  1. Clinical manifestations of severe enterovirus 71 infection and early assessment in a Southern China population.

    Science.gov (United States)

    Yang, Si-da; Li, Pei-Qing; Li, Yi-Min; Li, Wei; Lai, Wen-Ying; Zhu, Cui-Ping; Tao, Jian-Ping; Deng, Li; Liu, Hong-Sheng; Ma, Wen-Cheng; Lu, Jia-Ming; Hong, Yan; Liang, Yu-Ting; Shen, Jun; Hu, Dan-Dan; Gao, Yuan-Yuan; Zhou, Yi; Situ, Min-Xiong; Chen, Yan-Ling

    2017-02-17

    Enterovirus 71 (EV-A71) shows a potential of rapid death, but the natural history of the infection is poorly known. This study aimed to examine the natural history of EV-A71 infection. This was a prospective longitudinal observational study performed between January 1 st and October 31 st , 2012, at three hospitals in Guangdong, China. Subjects with positive EV-A71 RNA laboratory test results were included. Disease progression was documented with MRI, autopsies, and follow-up. Symptoms/signs with potential association with risk of death were analyzed. Among the 288 patients, neurologic symptoms and signs were observed (emotional movement disorders, dyskinesia, involuntary movements, autonomic dysfunction, and disturbance of consciousness). Some of them occurred as initial symptoms. Myoclonic jerks/tremors were observed among >50% of the patients; nearly 40% of patients presented fatigue and 25% were with vomiting. Twenty-eight patients (9.7%) presented poor peripheral perfusion within 53.4 ± 26.1 h; 23 patients (8.0%) presented pulmonary edema and/or hemorrhage within 62.9 ± 28.6 h. Seventeen (5.9%) patients were in a coma. Seven (2.4%) patients died within 62.9 ± 28.6 h. Seventy-seven survivors underwent head and spinal cord MRI and 37.7% (29/77) showed abnormalities. Two fatal cases showed neuronal necrosis, softening, perivascular cuffing, colloid, and neuronophagia phenomenon in the brainstem. Patients with EV-A71 infection showed high complexity of symptoms and onset timing. Death risk may be indicated by autokinetic eyeball, eyeball ataxia, severe coma, respiratory rhythm abnormality, absent pharyngeal reflex, ultrahyperpyrexia, excessive tachycardia, pulmonary edema and/or hemorrhage, and refractory shock and ataxic respiration. Early assessment of these symptoms/signs is important for proper management.

  2. Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

    Science.gov (United States)

    Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

    2017-08-08

    Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

  3. The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations, Anthropometric Indices and Metabolic Characteristics.

    Science.gov (United States)

    Shahrami, Seyedeh Hajar; Abbasi Ranjbar, Zahra; Milani, Forozan; Kezem-Nejad, Ehsan; Hassanzadeh Rad, Afagh; Dalil Heirat, Seyedeh Fatemeh

    2016-02-01

    Critical issue regarding to variation of findings based on different phenotypes led investigators to define whether they are distinct features or overlapping ones. Therefore, we aimed to investigate the association between diverse phenotypes of PCOS (Poly Cystic Ovary Syndrome) with clinical manifestations, anthropometric indices, and metabolic characteristics. This was a descriptive cross-sectional study conducted in 15-39 years old women with PCOS referred to infertility clinics in the north part of Iran, Rasht during 2010-2011. Data were gathered through an interview by a form consisted of demographic characteristics, laboratory findings, ovarian volume and anthropometric indices. A total of 214 patients consisted of 161 PCOS (cases) and 53 normal women (controls) participated in this study. The most prevalent phenotype in PCOS population was IM/PCO/HA (54%), followed by IM/HA (28%) and IM/PCO (13%). PCO/HA was present only in 6 PCOS patients (5%). PCOS patients were significantly younger than controls (P=0.07). Results showed that increased ovarian volume were higher in PCOS group in comparison with controls and IM/PCO/HA, and IM/PCO had respectively the largest ovarian volumes. Also, a significant relation was observed based on Cholesterol, 17OHP, LH, TG, 2hpp, and LH/FSH between patients with PCOS and control groups. There were significant differences in demographic, anthropometric, hormonal and ultrasound findings between PCOS and controls. Therefore, it seems that classification of the characteristics of each phenotype could offer an appropriate guide for screening risks of PCOS and may facilitate performing most favorable treatment for these complications.

  4. Severe Food Protein-Induced Enterocolitis Syndrome to Cow’s Milk in Infants

    Directory of Open Access Journals (Sweden)

    Min Yang

    2015-12-01

    Full Text Available Cow’s milk is the most common cause of food-protein-induced enterocolitis syndrome (FPIES. The aim of this study was to examine the clinical features and treatment outcomes of infants with severe FPIES to cow’s milk. We reviewed all infants ≤12 months of age who were hospitalized and diagnosed with severe FPIES to cow’s milk between 1 January 2011 and 31 August 2014 in a tertiary Children’s Medical Center in China. Patients’ clinical features, feeding patterns, laboratory tests, and treatment outcomes were reviewed. A total of 12 infants met the inclusion criteria. All infants presented with diarrhea, edema, and hypoalbuminemia. Other main clinical manifestations included regurgitation/vomiting, skin rashes, low-grade fever, bloody and/or mucous stools, abdominal distention, and failure to thrive. They had clinical remission with resolution of diarrhea and significant increase of serum albumin after elimination of cow’s milk protein (CMP from the diet. The majority of infants developed tolerance to the CMP challenge test after 12 months of avoidance. In conclusion, we reported the clinical experience of 12 infants with severe FPIES to cow’s milk, which resulted in malnutrition, hypoproteinemia, and failure to thrive. Prompt treatment with CMP-free formula is effective and leads to clinical remission of FPIES in infants.

  5. A leprosy clinical severity scale for erythema nodosum leprosum: An international, multicentre validation study of the ENLIST ENL Severity Scale.

    Science.gov (United States)

    Walker, Stephen L; Sales, Anna M; Butlin, C Ruth; Shah, Mahesh; Maghanoy, Armi; Lambert, Saba M; Darlong, Joydeepa; Rozario, Benjamin Jewel; Pai, Vivek V; Balagon, Marivic; Doni, Shimelis N; Hagge, Deanna A; Nery, José A C; Neupane, Kapil D; Baral, Suwash; Sangma, Biliom A; Alembo, Digafe T; Yetaye, Abeba M; Hassan, Belaynesh A; Shelemo, Mohammed B; Nicholls, Peter G; Lockwood, Diana N J

    2017-07-01

    We wished to validate our recently devised 16-item ENLIST ENL Severity Scale, a clinical tool for measuring the severity of the serious leprosy associated complication of erythema nodosum leprosum (ENL). We also wished to assess the responsiveness of the ENLIST ENL Severity Scale in detecting clinical change in patients with ENL. Participants, recruited from seven centres in six leprosy endemic countries, were assessed using the ENLIST ENL Severity Scale by two researchers, one of whom categorised the severity of ENL. At a subsequent visit a further assessment using the scale was made and both participant and physician rated the change in ENL using the subjective categories of "Much better", "somewhat better", "somewhat worse" and "much worse" compared with "No change" or "about the same". 447 participants were assessed with the ENLIST ENL Severity Scale. The Cronbach alpha of the scale and each item was calculated to determine the internal consistency of the scale. The ENLIST ENL Severity Scale had good internal consistency and this improved following removal of six items to give a Cronbach's alpha of 0.77. The cut off between mild ENL and more severe disease was 9 determined using ROC curves. The minimal important difference of the scale was determined to be 5 using both participant and physician ratings of change. The 10-item ENLIST ENL Severity Scale is the first valid, reliable and responsive measure of ENL severity and improves our ability to assess and compare patients and their treatments in this severe and difficult to manage complication of leprosy. The ENLIST ENL Severity Scale will assist physicians in the monitoring and treatment of patients with ENL. The ENLIST ENL Severity Scale is easy to apply and will be useful as an outcome measure in treatment studies and enable the standardisation of other clinical and laboratory ENL research.

  6. Peripheral Nervous System Manifestations in Systemic Autoimmune Diseases

    OpenAIRE

    COJOCARU, Inimioara Mihaela; COJOCARU, Manole; SILOSI, Isabela; VRABIE, Camelia Doina

    2014-01-01

    The peripheral nervous system refers to parts of the nervous system outside the brain and spinal cord. Systemic autoimmune diseases can affect both the central and peripheral nervous systems in a myriad of ways and through a heterogeneous number of mechanisms leading to many different clinical manifestations. As a result, neurological complications of these disorders can result in significant morbidity and mortality. The most common complication of peripheral nervous system (PNS) involvement ...

  7. Non-cardiac manifestations of Marfan syndrome

    Science.gov (United States)

    2017-01-01

    Because of the widespread distribution of fibrillin 1 in the body, Marfan syndrome (MFS) affects virtually every system. The expression of this single dominantly inherited gene is variable within a family, and between families. There is some genotype-phenotype correlation which is helpful in guiding long-term prognosis, and management. In general gene mutations have been reported in clusters, with those having mainly ocular manifestations occurring in exons 1 to 15 of this 65-exon gene; those causing cardiac problems often involving cysteine replacement in a calcium binding EGF-like sequence; the most severe mutations occurring in exons 25–32, causing neonatal MFS diagnosed at birth, and severe enough to cause death frequently before the age of 2. Other correlations will certainly be found in future. This condition is progressive, and the manifestations unfold according to age. For example, if the lens is going to dislocate this usually occurs by age 10; scoliosis usually presents itself between the ages of 8 and 15; height should be monitored carefully between the onset of puberty and cessation of growth approximately age 17 or 18. Holistic care should be offered by one doctor who oversees the patient’s welfare. This should be a paediatrician, paediatric cardiologist, or general practitioner in the case of an affected child. Thereafter, the physician in charge of the most seriously affected system should be aware that other systems need to be managed through a referral network. PMID:29270372

  8. Studies on manifestations of canine distemper virus infection in an urban dog population.

    Science.gov (United States)

    Blixenkrone-Møller, M; Svansson, V; Have, P; Orvell, C; Appel, M; Pedersen, I R; Dietz, H H; Henriksen, P

    1993-10-01

    An upsurge of canine distemper was recognized at the beginning of 1991 in the urban dog population of the Copenhagen area. The outbreak had the characteristics of a virulent morbillivirus introduction in a partly immune population, where the disease primarily was manifested in young individuals. Testing of single serum samples for the presence of canine distemper virus (CDV) IgM antibodies using an IgM ELISA confirmed current and recent CDV infections in an urban dog population, where the use of attenuated CDV vaccines was widespread. In 49 out of 66 sera from clinical cases suspected of canine distemper we detected CDV IgM antibodies, as compared to the detection of viral antigen by indirect immunofluorescence in 27 of 65 specimens of conjunctival cells. The antigenic make-up of isolates from acute and subacute clinical cases was investigated with a panel of 51 monoclonal antibodies directed against CDV and the related phocine distemper virus. The isolates exhibited an homogeneous reaction pattern and shared overall antigenic characteristics of the CDV prototype. The majority of cases were diagnosed among unvaccinated dogs and individuals with unknown or obscure vaccination record. However, severe clinical cases were also diagnosed in vaccinated individuals.

  9. Neurological manifestations of Ehlers-Danlos syndrome(s): A review

    Science.gov (United States)

    Castori, Marco; C. Voermans, Nicol

    2014-01-01

    The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

  10. Clinical and neuroradiological manifestations of reversible splenial lesion syndrome: a report of 13 cases

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    Li WANG

    2016-10-01

    Full Text Available Objective  To summarize the clinical and MRI imaging features, treatment and prognosis of reversible splenial lesion syndrome (RESLES. Methods  The clinical manifestation and MRI imaging appearances of 13 RESLES patients were retrospectively evaluated and the pertinent literatures of RESLES were reviewed. Results  Of the 13 cases (11 males and 2 female, aged from 13 to 58 years, 1 was complicated with spontaneous intracranial hypotension syndrome, 1 with epidemic hemorrhagic fever, 1 with antiepileptic drug withdraw, 1 with pituitary crisis combining Sjogren syndrome, 1 with still disease, and 8 cases were complicated with viral encephalitis (meningoencephalitis. The first MRI imaging was performed from 2 to 39 days after onset. All the lesions were measured about 1-2cm, located in the central area and involved no other part of corpus callosum. They were characterized by high signal intensity on FLAIR and T2 sequences, with mild signal reduction on T1 sequence, and hyperintensity on DWI with low apparent diffusion coefficient (ADC values. The lesions formed as ovoid and boomerang. Following intravenous injection of contrast medium in 3 cases, no enhancement was found in the splenial lesions. All the patients completely recovered or obviously improved after appropriate treatments. The splenial lesions disappeared or obviously weakened on the follow-up MRI imaging, ranging from 6 to 30 days after first MRI imaging. Conclusions  RESLES is characterized by the MRI finding as a reversible lesion with transiently reduced diffusion in the splenium of corpus callosum. Symptoms of RESLES are various, the outcome is favorable in most cases, and the etiology and pathogenesis of RESLES are still unclear. DOI: 10.11855/j.issn.0577-7402.2016.10.09

  11. Skin manifestations and immunological parameters in childhood food allergy.

    Science.gov (United States)

    Oehling, A; Fernández, M; Córdoba, H; Sanz, M L

    1997-01-01

    According to Hansen's contact rule, the digestive system should be considered as the main shock organ, yet in food allergy, this is not the case. Very often specific food triggers clinical manifestations not involving the digestive system; that is, reactions are manifested either in the respiratory system, as asthma or rhinitis, or in the skin. In these cases the BALT (broncho-alveolar lymphoid tissue) and GALT (gastrointestinal lymphoid tissue) units play a basic role in the sensitizations. The purpose of this study was to determine the most frequent skin manifestations of food allergy among children, and the most frequently involved foods. We also thought it interesting to evaluate the diagnostic reliability of the different standard immunological parameters utilized by the study team in food allergy. All patients underwent intracutaneous tests with 12 groups of the most frequent food allergens, as well as serum IgE, antigen-specific IgE against foods, and antigen-specific histamine release tests. Antigen-specific IgG4 determination was performed in some cases. The results obtained confirmed previous studies, the most common manifestations being: angioedema (48%), followed by urticaria (31%) and atopic dermatitis (21%). Regarding the frequency of sensitization to different food allergens, in mono- or polisensitization, fish and egg stand out in our environment. Certain food allergens are more frequently responsible for specific skin manifestations. Thus, for fish sensitization, the most frequent skin manifestation is atopic dermatitis (50%); for egg sensitization, angioedema is the most frequent skin manifestation (50%); and for milk, urticaria (50%). Finally, and in agreement with previous works regarding the diagnostic reliability of in vitro techniques, we found that the histamine release test offered the highest percentage of diagnostic reliability. Only for sensitization to milk proteins did antigen-specific IgE demonstrate higher reliability. Once again, we

  12. Oral Manifestations in Pediatric Patients with Coeliac Disease – A Review Article

    Science.gov (United States)

    Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso e Silva, Diana Maria; de Andrade, David José Casimiro

    2017-01-01

    Background: Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. Objective: This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. Methods: A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were “coeliac disease “,”oral manifestations “, “dental enamel defects”, “recurrent aphthous stomatitis” and “oral aphthous ulcers”. Results: There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. Conclusion: The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease. PMID:29238414

  13. Anophthalmia: an uncommon manifestation of neurofibromatosis type 1.

    Science.gov (United States)

    Chen, Sheng; Pu, Jia-Li; Zhang, Jian-Min; Hong, Yuan

    2011-11-01

    Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.

  14. Clinical and virological characteristics of dengue in Surabaya, Indonesia.

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    Puspa Wardhani

    Full Text Available Dengue disease is still a major health problem in Indonesia. Surabaya, the second largest city in the country, is endemic for dengue. We report here on dengue disease in Surabaya, investigating the clinical manifestations, the distribution of dengue virus (DENV serotypes, and the relationships between clinical manifestations and the genetic characteristics of DENV. A total of 148 patients suspected of having dengue were recruited during February-August 2012. One hundred one (68% of them were children, and 47 (32% were adults. Dengue fever (DF and Dengue hemorrhagic fever (DHF were equally manifested in all of the patients. We performed DENV serotyping on all of the samples using real-time RT-PCR. Of 148, 79 (53% samples were detected as DENV positive, with DENV-1 as the predominant serotype (73%, followed by DENV-2 (8%, DENV-4 (8%, and DENV-3 (6%, while 5% were mixed infections. Based on the Envelope gene sequences, we performed phylogenetic analyses of 24 isolates to genotype the DENV circulating in Surabaya in 2012, and the analysis revealed that DENV-1 consisted of Genotypes I and IV, DENV-2 was of the Cosmopolitan genotype, the DENV-3 viruses were of Genotype I, and DENV-4 was detected as Genotype II. We correlated the infecting DENV serotypes with clinical manifestations and laboratory parameters; however, no significant correlations were found. Amino acid analysis of Envelope protein did not find any unique mutations related to disease severity.

  15. Clinical and virological characteristics of dengue in Surabaya, Indonesia.

    Science.gov (United States)

    Wardhani, Puspa; Aryati, Aryati; Yohan, Benediktus; Trimarsanto, Hidayat; Setianingsih, Tri Y; Puspitasari, Dwiyanti; Arfijanto, Muhammad Vitanata; Bramantono, Bramantono; Suharto, Suharto; Sasmono, R Tedjo

    2017-01-01

    Dengue disease is still a major health problem in Indonesia. Surabaya, the second largest city in the country, is endemic for dengue. We report here on dengue disease in Surabaya, investigating the clinical manifestations, the distribution of dengue virus (DENV) serotypes, and the relationships between clinical manifestations and the genetic characteristics of DENV. A total of 148 patients suspected of having dengue were recruited during February-August 2012. One hundred one (68%) of them were children, and 47 (32%) were adults. Dengue fever (DF) and Dengue hemorrhagic fever (DHF) were equally manifested in all of the patients. We performed DENV serotyping on all of the samples using real-time RT-PCR. Of 148, 79 (53%) samples were detected as DENV positive, with DENV-1 as the predominant serotype (73%), followed by DENV-2 (8%), DENV-4 (8%), and DENV-3 (6%), while 5% were mixed infections. Based on the Envelope gene sequences, we performed phylogenetic analyses of 24 isolates to genotype the DENV circulating in Surabaya in 2012, and the analysis revealed that DENV-1 consisted of Genotypes I and IV, DENV-2 was of the Cosmopolitan genotype, the DENV-3 viruses were of Genotype I, and DENV-4 was detected as Genotype II. We correlated the infecting DENV serotypes with clinical manifestations and laboratory parameters; however, no significant correlations were found. Amino acid analysis of Envelope protein did not find any unique mutations related to disease severity.

  16. Cerebrovascular Manifestations of Neurosarcoidosis: An Underrecognized Aspect of the Imaging Spectrum.

    Science.gov (United States)

    Bathla, G; Watal, P; Gupta, S; Nagpal, P; Mohan, S; Moritani, T

    2017-12-28

    Involvement of the central nervous system by sarcoidosis, also referred to as neurosarcoidosis, is seen clinically in about 5% of patients with systemic disease. CNS involvement most frequently affects the leptomeninges and cranial nerves, though the ventricular system, brain parenchyma, and pachymeninges may also be involved. Even though the involvement of the intracranial vascular structures is well-known on postmortem studies, there is scant literature on imaging manifestations secondary to the vessel wall involvement, being confined mostly to isolated case reports and small series. The authors present a review of various cerebrovascular manifestations of neurosarcoidosis, along with a brief synopsis of the existing literature. © 2018 by American Journal of Neuroradiology.

  17. Clinical Manifestations and Outcomes of Rickettsia australis Infection: A 15-Year Retrospective Study of Hospitalized Patients

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    Adam Stewart

    2017-06-01

    Full Text Available Queensland tick typhus (QTT; Rickettsia australis is an important cause of community-acquired acute febrile illness in eastern Australia. Cases of QTT were identified retrospectively from 2000 to 2015 at five sites in Northern Brisbane through a pathology database. Those included had a fourfold rise in spotted fever group (SFG-specific serology, a single SFG-specific serology ≥ 256 or SFG-specific serology ≥ 128 with a clinically consistent illness. Cases were excluded on the basis of clinical unlikelihood of QTT infection. Thirty-six cases were included. Fever was found in 34/36 (94% patients. Rash occurred in 83% of patients with maculopapular being the dominant morphology (70%. Thrombocytopenia, lymphopenia, and raised transaminases were common and occurred in 58%, 69%, and 89% of patients, respectively. Thirty-one of 36 (86% patients received antibiotic therapy (usually doxycycline and the time to correct antibiotic (from admission ranged from 3 to 120 h (mean 45.5 h. Four of 36 (11% required intensive care unit (ICU admission for severe sepsis and end-organ support. There were no deaths. QTT has a wide range of clinical and laboratory features. Early and appropriate antimicrobial therapy is important and may prevent severe disease. Further prospective studies are required to identify factors associated with severe infection and sepsis.

  18. Extrathoracic manifestations of tuberculosis; Extrathorakale Manifestationen der Tuberkulose

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    Kienzl-Palma, D.; Prosch, H. [Medizinische Universitaet Wien, Abteilung fuer Allgemeine Radiologie und Kinderradiologie, Universitaetsklinik fuer Radiologie und Nuklearmedizin, Wien (Austria)

    2016-10-15

    Besides the lungs, tuberculosis (TB) can affect any organ system. In most cases, extrathoracic TB occurs in immunosuppressed patients as part of a severe illness via hematogenous spread. Extrathoracic involvement most commonly involves abdominal organs, especially the urogenital tract and less commonly the central nervous system (CNS) and the musculoskeletal system. Most frequently, computed tomography (CT) is used for detecting extrathoracic TB manifestations, except for CNS and musculoskeletal manifestations, where contrast-enhanced magnetic resonance imaging (MRI) is the gold standard. Extrathoracic manifestations of TB may be indistinguishable from inflammatory or malignant causes. Due to unspecific symptoms the diagnosis is often delayed. This article summarizes and discusses the various radiological manifestations of extrathoracic manifestation of TB. Radiological modalities for screening extrathoracic TB are CT and MRI. Conventional X-radiographs do not play a role in the diagnosis of extrathoracic TB. The possibility of extrathoracic TB should be considered particularly in immunosuppressed patients, such as the homeless, alcoholics or drug addicts or in patients with an immigrant background from the endemic areas of TB. The most likely site of extrathoracic TB is the abdomen; however, infections of the CNS or musculoskeletal systems and multisystem infections can also occur. In patients with suspected extrathoracic TB, radiological modalities for screening are CT, especially for abdominal infections and lymphadenopathy and MRI with contrast media for the musculoskeletal system and the CNS. (orig.) [German] Die Tuberkulose (Tbc) kann neben der Lunge prinzipiell jedes Organsystem befallen. In den meisten Faellen tritt eine extrathorakale Tbc bei Immunsupprimierten im Rahmen eines schweren Krankheitsverlaufs durch haematogene Aussaat auf. Der haeufigste extrathorakale Befall betrifft das Abdomen und hier v. a. den Urogenitaltrakt. Daneben kann es zum Befall

  19. Patient profiles and clinical utility of mepolizumab in severe eosinophilic asthma

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    Haldar P

    2017-06-01

    Full Text Available Pranabashis Haldar Respiratory Biomedical Research Unit, Glenfield Hospital, University of Leicester, Leicester, UK Abstract: Mepolizumab (Nucala® is an effective and specific anti-eosinophil molecular therapy that has recently been approved as add-on therapy for the management of severe eosinophilic asthma by the US Food and Drug Administration (FDA, European Medicines Agency (EMA; European Union and more recently National Institute for Health and Care Excellence (NICE; UK. It is one of several molecular therapies in development for this indication and is illustrative of the strategic trajectory for pharmaceutical drug development taken over the past decade in several disease areas. Molecular therapies offer the prospect of improved specificity and effectiveness of biological effect. However, this necessitates a clear understanding of the underlying mechanistic pathways underpinning pathological processes, to inform drug development that yields novel more efficacious treatment options with a better clinical profile than existing agents. For the first time, utilization of molecular therapies in clinical trials is providing a novel in vivo model to characterize the association between specific pathways and clinical disease expression. It is increasingly recognized that asthma exhibits both clinical and pathological heterogeneity. It follows that a one-size-fits-all approach will not be appropriate and cost-effectiveness may only be achieved by identifying responder subgroups. This so-called personalized approach to therapy is being supported by the parallel development of companion biomarkers for clinical application. In this review, the author summarizes the clinical studies, their interpretation and the lessons learnt with mepolizumab that have informed our understanding of the approach to personalized molecular therapy in asthma. Keywords: IL-5, Nucala, exacerbations 

  20. Chronic polyarthritis as isolated manifestation of toxocariasis

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    Gabriela R. Viola

    2016-04-01

    Full Text Available ABSTRACT Human toxocariasis is a parasitic zoonosis mainly caused by Toxocara canis or Toxocara catiand is acquired by ingestion of the parasite’s embryonated eggs. Arthralgia and/or arthri-tis were reported in up to 17% of the cases, generally with acute duration (less than 6weeks. However, to our knowledge, chronic polyarthritis, as the isolated presentation ofToxocara infection, was not reported. One of the 5809 patients that was followed up at ourservice (0.017% had chronic polyarthritis as the single manifestation of toxocariasis and wasdescribed herein. A 3-year-old girl was referred to our service with severe painful chronicpolyarthritis for a period longer than 10 weeks and morning stiffness of 30 min. Dog contactexposure history in the recreational areas of neighborhood was reported. Her exams showedhigh levels of eosinophils in peripheral blood (29%, bone marrow aspirate revealed markedeosinophilia (32% and Toxocara enzyme-linked immunosorbent assay (Elisa was positive(1:1280. She was treated with paracetamol (40 mg/kg/day and thiabendazole (25 mg/kg/dayfor 10 days, and all manifestations reduced. After eight months of follow-up, she was onclinical and laboratorial remission. In conclusion, we described a case of chronic polyarthri-tis, as isolated manifestation of toxocariasis, mimicking juvenile idiopathic arthritis andleukemia. Importantly, this zoonosis should be considered in patients with arthritis andeosinophilia.

  1. Shoe contact dermatitis from dimethyl fumarate: clinical manifestations, patch test results, chemical analysis, and source of exposure.

    Science.gov (United States)

    Giménez-Arnau, Ana; Silvestre, Juan Francisco; Mercader, Pedro; De la Cuadra, Jesus; Ballester, Isabel; Gallardo, Fernando; Pujol, Ramón M; Zimerson, Erik; Bruze, Magnus

    2009-11-01

    The methyl ester form of fumaric acid named dimethyl fumarate (DMF) is an effective mould-growth inhibitor. Its irritating and sensitizing properties were demonstrated in animal models. Recently, DMF has been identified as responsible for furniture contact dermatitis in Europe. To describe the clinical manifestations, patch test results, shoe chemical analysis, and source of exposure to DMF-induced shoe contact dermatitis. Patients with suspected shoe contact dermatitis were studied in compliance with the Declaration of Helsinki. Patch test results obtained with their own shoe and the European baseline series, acrylates and fumaric acid esters (FAE), were recorded according to international guidelines. The content of DMF in shoes was analysed with gas chromatography and mass spectrometry. Acute, immediate irritant contact dermatitis and non-immunological contact urticaria were observed in eight adults and two children, respectively. All the adult patients studied developed a delayed sensitization demonstrated by a positive patch testing to DMF Global preventive measures for avoiding contact with DMF are necessary.

  2. Moyamoya Disease Clinical Course and Severity in Childhood

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    Ayse Kacar Bayram

    2016-01-01

    Full Text Available Aim: Moyamoya disease (MMD is a rare, progressive and oclusive cerebrovascular disorder, predominantly affecting the terminal segment of the internal carotid arteries (ICA and its main branches. The purpose of this study is to evaluate the clinical course and severity of MMD in pediatric patients. Material and Method: We examined 5 consecutive pediatric patients with MMD, focusing on clinical and radiological features, the therapy and outcome over the 58-month follow-up period. Results: The study population consisted of 3 boys and 2 girls. The mean age at diagnosis of patients was 7.2 ± 3.4 years (age range: 3-10 years. The mean duration of follow-up was 30.4 ± 17.4 months (follow-up interval: 12-58 months. Neurological findings at presentation included: motor deficit in 4 patients (80.0%, epileptic seizures in 2 patients (40.0%, movement disorders in 3 patients (60.0%, and headache in 1 patients (20.0%. There was areas of infarction on brain MRI in all patients. Angiographic findings included: internal carotid artery stenosis in all patients, anterior cerebral artery stenosis in 3 patients, middle cerebral artery stenosis in 3 patients, posterior cerebral artery stenosis in 2 patients, and vertebral artery stenosis in 1 patient. Enoxaparine therapy was started to all patients. Subdural hematoma developed in 1 patient during follow-up. Cerebral infarctions recurred despite medical treatment in 4 patients. Discussion: Although this disease is rare, it is an important cause of pediatric stroke. MMD shows different clinical course and disease severity in childhood. Early diagnosis and appropriate treatment are crucial.

  3. Spectrum of ocular manifestations in CLN2-associated batten (Jansky-Bielschowsky disease correlate with advancing age and deteriorating neurological function.

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    Anton Orlin

    Full Text Available BACKGROUND: Late infantile neuronal ceroid lipofuscinosis (LINCL, one form of Batten's disease is a progressive neurodegenerative disorder resulting from a CLN2 gene mutation. The spectrum of ophthalmic manifestations of LINCL and the relationship with neurological function has not been previously described. METHODS: Patients underwent ophthalmic evaluations, including anterior segment and dilated exams, optical coherence tomography, fluorescein and indocyanine green angiography. Patients were also assessed with the LINCL Neurological Severity Scale. Ophthalmic findings were categorized into one of five severity scores, and the association of the extent of ocular disease with neurological function was assessed. RESULTS: Fifty eyes of 25 patients were included. The mean age at the time of exam was 4.9 years (range 2.5 to 8.1. The mean ophthalmic severity score was 2.6 (range 1 to 5. The mean neurological severity score was 6.1 (range 2 to 11. Significantly more severe ophthalmic manifestations were observed among older patients (p<0.005 and patients with more severe neurological findings (p<0.03. A direct correlation was found between the Ophthalmic Severity Scale and the Weill Cornell Neurological Scale (p<0.002. A direct association was also found between age and the ophthalmic manifestations (p<0.0002, with older children having more severe ophthalmic manifestations. CONCLUSIONS: Ophthalmic manifestations of LINCL correlate closely with the degree of neurological function and the age of the patient. The newly established LINCL Ophthalmic Scale may serve as an objective marker of LINCL severity and disease progression, and may be valuable in the evaluation of novel therapeutic strategies for LINCL, including gene therapy.

  4. Neuropsychiatric manifestations in late-onset urea cycle disorder patients

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    Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; Häberle Johannes; Briones Paz; Campistol Jaume M D; Pineda Mercè; Vilaseca María Antònia Antonia

    2010-01-01

    Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation attention deficit hyper...

  5. Spontaneous subarachnoid hemorrhage as manifestation of an acoustic neurinoma

    International Nuclear Information System (INIS)

    Mironov, A.; Voigt, K.; Peiffer, J.; Rios Nogales Carces, L.

    1986-01-01

    Subarachnoid hemorrhages (SAH) due to intracranial tumors are very rare. We report the clinical, neuroradiological and histological findings of an acoustic neurinoma, the initial and manifestating symptom of which was an acute SAH. In the literature we found only eight further cases of acoustic neurinomas with spontaneous SAH. The causes of the SAH are discussed; and we compare our findings to those in the literature. (orig.) [de

  6. Broad phenotypic spectrum in familial adenomatous polyposis; from early onset and severe phenotypes to late onset of attenuated polyposis with the first manifestation at age 72

    DEFF Research Database (Denmark)

    Nilbert, Mef; Kristoffersson, Ulf; Ericsson, Mats

    2008-01-01

    ABSTRACT: Background Familial adenomatous polyposis (FAP) is typically characterized by multiple colonic polyps and frequent extracolonic features. Whereas the number of colonic polyps has been linked to the APC gene mutation, possible genotype-phenotype correlations largely remain to be defined...... of extracolonic manifestations was identified in most of these individuals. Two sisters with an insertion in codon 528 (c.1582_1583insGC) both showed severe phenotypes with classical polyposis, upper gastrointestinal polyps and thyroid cancer. A woman with a 3'APC mutation (c.5030_5031insAA) developed colon...

  7. Environmental Pollution by Benzene and PM10 and Clinical Manifestations of Systemic Sclerosis: A Correlation Study.

    Science.gov (United States)

    Borghini, Alice; Poscia, Andrea; Bosello, Silvia; Teleman, Adele Anna; Bocci, Mario; Iodice, Lanfranco; Ferraccioli, Gianfranco; La Milìa, Daniele Ignazio; Moscato, Umberto

    2017-10-26

    Atmospheric air pollution has been associated with a range of adverse health effects. The environment plays a causative role in the development of Systemic Sclerosis (SSc). The aim of the present study is to explore the association between particulate (PM 10 ) and benzene (B) exposure in Italian patients with systemic sclerosis and their clinical characteristics of the disease. A correlation study was conducted by enrolling 88 patients who suffer from SSc at the Fondazione Policlinico "A. Gemelli" in Rome (Italy) in the period from January 2013 to January 2014. The average mean concentrations of B (in 11 monitoring sites) and PM 10 (in 14 sites) were calculated using data from the Regional Environmental Protection Agency's monitoring stations located throughout the Lazio region (Italy) and then correlated with the clinical characteristics of the SSc patients. Of the study sample, 92.5% were female. The mean age was 55 ± 12.9 years old and the mean disease duration from the onset of Raynaud's phenomenon was 13.0 ± 9.4 years. The Spearman's correlation showed that concentrations of B correlate directly with the skin score (R = 0.3; p ≤ 0.05) and inversely with Diffusing Lung Carbon Monoxide (DLCO) results (R = -0.36; p = 0.04). This study suggests a possible role of B in the development of diffuse skin disease and in a worse progression of the lung manifestations of SSc.

  8. Clinical Presentation of Ulcerative Colitis in Pakistani Adults.

    Science.gov (United States)

    Qureshi, Mustafa; Abbas, Zaigham

    2015-01-01

    The aim of this study was to determine the clinical presentation and severity of ulcerative colitis (UC) in Pakistani adult patients. An observational study. Data were obtained by reviewing the medical records of patients who visited a gastroenterology clinic between 2008 and 2012. There were 54 patients diagnosed as UC. The male to female ratio was 1:1. Mean age at diagnosis of UC was 38.7 ± 11.8 years (median 36.5, range 18-64). The predominant presenting symptoms were mucus diarrhea in 49 (90.7%), gross blood in stools in 42 (77.8%), abdominal pain or cramps in 40 (74.1%) and weight loss in 15 (27.7%). Left-sided colitis was present in 23 (42.6%), pancolitis in 15 (27.8%), extensive colitis in 11 (20.4%), and proctitis in five (9.2%). The severity of UC as judged by the Mayo scoring system showed that 68.5% were suffering from moderate to severe disease while 31.5% had mild disease. The extra-intestinal manifestation were found only in seven patients; arthritis in five patients and anterior uveitis in two patients. The arthritis was unilateral and the sites were knee joint in three patients and sacroiliac joint in two patients. Ulcerative colitis presents in our adult patients may present at any age with no gender preponderance. The disease severity is moderate to severe in the majority of patients and more than half of them have left-sided colitis or pancolitis at the time of presentation. Extraintestinal manifestations were not common. Qureshi M, Abbas Z. Clinical Presentation of Ulcerative Colitis in Pakistani Adults. Euroasian J Hepato-Gastroenterol 2015;5(2):127-130.

  9. Wolf-Hirschhorn syndrome presenting with cardiac manifestations at birth

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    Sudhir D Malwade

    2016-01-01

    Full Text Available Wolf–Hirschhorn syndrome (WHS is a condition of developmental delay and dysmorphology caused by a deletion of short arm of chromosome 4. The main characteristics of WHS are intra and extrauterine growth retardation, mental retardation with typical facial dysmorphism, microcephaly, and midline fusion defects. The diagnosis is based on clinical features and chromosomal analysis, e.g., microsatellite analysis or molecular cytogenetic techniques and fluorescence in situ hybridization (FISH to detect the deletion. Prenatal diagnosis is possible by FISH. Though no specific treatment is available, supportive management can be fruitful. Here, we describe a female baby with a 4p deletion, who had the majority of the main phenotypic features of WHS and severe congenital heart disease manifesting at birth. The case emphasized that any fetus with intrauterine growth retardation, dysmorphic features on antenatal scan, and midline defects should raise a suspicion of WHS. Conventional cytogenetic studies can miss the diagnosis; hence, these cases should be further investigated using molecular cytogenetic techniques such as FISH or array-comparative genomic hybridization.

  10. [«Man-in-the-barrel» syndrome: atypical manifestation of giant cell arteritis].

    Science.gov (United States)

    Calle-Lopez, Y; Fernandez-Ramirez, A F; Franco-Dager, E; Gomez-Lopera, J G; Vanegas-Garcia, A L

    2018-06-01

    «Man-in-the-barrel» syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel» syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinical features of a patient with giant cell arteritis. A 70-year-old male with a two-month history of weight loss, headache, facial pain and jaw claudication, associated with a persistent elevation of acute phase reactants and bilateral brachial plexopathy, with no evidence of neck or brain injuries or occult neoplasm and with negative autoimmunity tests. Results of the biopsy study of the temporal artery were compatible with giant cell arteritis, and the positron emission tomography scan revealed extensive vascular involvement of the aorta and its branches. Although the typical clinical manifestations of giant cell arteritis are headache, jaw claudication, loss of sight, constitutional symptoms and polymyalgia rheumatica, its presence must be suspected in patients over the age of 50 who manifest alterations affecting the peripheral nerve, including brachial diplegia with no other demonstrable cause.

  11. Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

    Science.gov (United States)

    Tubbs, R Shane; Malefant, Jason; Loukas, Marios; Jerry Oakes, W; Oskouian, Rod J; Fries, Fabian N

    2016-05-01

    The presence of a human tail is a rare and intriguing phenomenon. While cases have been reported in the literature, confusion remains with respect to the proper classification, definition, and treatment methods. We review the literature concerning this anatomical derailment. We also consider the importance of excluding underlying congenital anomalies in these patients to prevent neurological deficits and other abnormal manifestations. © 2016 Wiley Periodicals, Inc.

  12. Brain single-photon emission tomography with 99mTc-HMPAO in neuropsychiatric systemic lupus erythematosus: relations with EEG and MRI findings and clinical manifestations

    International Nuclear Information System (INIS)

    Colamussi, P.; Giganti, M.; Cittanti, C.; Dovigo, L.; Trotta, F.; Tola, M.R.; Tamarozzi, R.; Lucignani, G.; Piffanelli, A.

    1995-01-01

    In the reported study the role of single-photon emission tomography (SPET) with technetium-99m hexamethylpropylene amine oxime (HMPAO) in the evaluation of CNS involvement in SLE was assessed and the relations between SPET perfusion defects, EEG examination, magnetic resonance imaging (MRI) findings and clinical presentation were examined. Twenty SLE patients with different NP manifestations were studied. Multiple areas of hypoperfusion, especially in the territory of the middle cerebral artery, were demonstrated by SPET analysis in all 20 patients. The number of hypoperfused areas and the degree of hypoperfusion, expressed by an asymmetry index (AI), were more marked in patients with multiple NP manifestations. MRI and EEG evaluations were positive for 14 of 18 and for 12 of 20 patients, respectively. In the patients with positive SPET and MRI, 87 MRI focal lesions and 63 hypoperfused areas were found, and for 51 of these 63 at least one MRI lesion was found in the same anatomical region. SPET examination of patients with a normal EEG showed fewer hypoperfused areas and a lower degree of asymmetry compared to patients with an abnormal EEG. SPET of patients with focal EEG abnormalities showed more hypoperfused areas (difference not statistically significant) and a higher AI than did SPET of the patients with diffuse EEG abnormalities. Seven of 11 anatomical regions with focal EEG abnormalities. Seven of 11 anatomical regions with focal EEG abnormalities had co-localized hypoperfused areas and in two of these seven no detectable MRI lesions were found. The analysis of SPET and NP manifestations showed that 12 of 20 patients had at least one positive correlation, always involving the areas with the highest AI. In total, 51/88 (58%) hypoperfused areas correlated with the MRI findings and 31/88 (35%) with NP manifestations; for seven of the latter no concurrent MRI lesions were detected in the same anatomical region. (orig.)

  13. Is nephrolithiasis an unrecognized extra-articular manifestation in ankylosing spondylitis?

    DEFF Research Database (Denmark)

    Jakobsen, Ane Krag; Jacobsson, Lennart T H; Patschan, Oliver

    2014-01-01

    confounding and inability to study the chemical nature of NL were considered the main limitations of the study. CONCLUSIONS: Patients with AS are at increased risk of NL, which may be considered a novel extra-articular manifestation. Previous history of NL, IBD, AS disease severity and male sex were...

  14. Clinical manifestations of pulmonary mucosa-associated lymphoid tissue lymphoma: single-center experience with 18 patients

    Directory of Open Access Journals (Sweden)

    Zhao S

    2018-01-01

    Full Text Available Shasha Zhao,1,2 Lin Zhang,3 Zhenyang Gu,1 Chengying Zhu,1,2 Shu Fang,1 Nan Yang,1 Feiyan Wang,1,2 Lixun Guan,1 Lan Luo,1 Chunji Gao1 1Department of Hematology, Chinese People’s Liberation Army (PLA General Hospital, Beijing, 2School of Medicine, Nankai University, Tianjin, 3Department of Hematology, First Hospital of Qinhuangdao, Qinhuangdao, China Purpose: Pulmonary mucosa-associated lymphoid tissue (MALT lymphoma is a rare entity. To date, the optimal treatment for this disease is still under debate. The aim of this study was to analyze and summarize the clinical manifestations and therapeutic experience of 18 pulmonary MALT lymphoma patients to collect information about the optimal treatment modality. Patients and methods: A retrospective analysis was performed in patients who were diagnosed with pulmonary MALT lymphoma at the Chinese People’s Liberation Army General Hospital from April 1995 to April 2016. Results: Clinical data of 18 patients were available. The median age was 55 (range, 34–67 years. Also, 61.1% of the patients were male. Only 33.3% had a history of smoking and 27.8% of the patients had tuberculosis. Treatment modalities included surgery alone in 1 patient (5.6%, chemotherapy in 10 patients (55.5%, surgery in combination with chemotherapy in 6 patients (33.3% and observation in 1 patient (5.6%. Over the median observation period of 93 months, 2 patients died, the median progression-free survival was 6 years, and the estimated 5- and 10-year overall survival rates were 94.1% and 83.7%, respectively. The survival data confirmed the indolent nature of the disease. There was no difference in progression-free survival between the chemotherapy group and the surgery in combination with chemotherapy group. Conclusion: Pulmonary MALT lymphoma tended to be an indolent disease. In order to preserve the lung function and reduce the risks associated with surgery, chemotherapy might be an optimal choice for the treatment of

  15. Clinical Manifestations of an Anti-Drug Antibody Response: Autoimmune Reactions.

    Science.gov (United States)

    Swanson, Steven J

    2014-12-01

    Antibodies can be generated against a therapeutic protein upon administration to human subjects. When the therapeutic protein closely mimics one of the subject's endogenous proteins, those antibodies might bind to the endogenous protein in addition to the therapeutic protein. This scenario results when tolerance to the endogenous protein is broken. The consequences of breaking tolerance include an autoimmune response where antibodies are generated against the endogenous protein. These autoantibodies could have significant clinical relevance depending on several factors, including the redundancy of action of the endogenous protein as well as the concentration, binding affinity, and neutralizing potential of the antibodies. The consequences of a therapeutic-protein-induced autoimmune reaction can be challenging to manage as the stimulus for further perpetuation of the immune response can shift from the therapeutic protein to the endogenous protein. The potential for inducing an autoimmune response is one of the reasons that the immune response to a therapeutic protein should be monitored if it persists through the end of the study.

  16. Experimental study of plasmapheresis therapeutic efficacy in severe radiation damage

    International Nuclear Information System (INIS)

    Legeza, V.I.; Abdul', Yu.A.; Chigareva, N.G.; Petkevich, N.V.; Myasoedov, A.F.; Andryukhin, V.I.; Artemenko, A.G.

    1994-01-01

    In experiments with dogs exposed to 2.9 Gy (LD 80/45 ) it was found that plasmapheresis treatment 4-6 h after irradiation reduce the severity of the radiation sickness clinical manifestations and post-radiation toxemia thus increasing the rate of animal survival up to 60 %. Sham plasmapheresis included all the manipulations of plasmapheretic treatment except plasma substitution and had no detoxication effect and did not affect the irradiated animals survival. This is evidence for leading role of detoxiation in the mechanisms of th therapeutic action of plasmapheresis in acute irradiation

  17. Neurological manifestations of snake bite in Sri Lanka.

    Directory of Open Access Journals (Sweden)

    Seneviratne U

    2002-10-01

    Full Text Available BACKGROUND AND AIMS: Snake bite is an important cause of mortality and morbidity in certain parts of Sri Lanka. This study was designed to determine the offending snakes, neurological manifestations, disease course, and outcome in neurotoxic envenomation. METHODS AND MATERIAL: Fifty six consecutive patients admitted with neurological manifestations following snake bite were studied prospectively. Data were obtained regarding the offending snakes, neurological symptoms, time taken for onset of symptoms, neurological signs, and time taken for recovery. RESULTS: The offending snake was Russell′s viper in 27(48.2%, common and Sri Lankan krait in 19(33.9%, cobra in 3(5.4%, and unidentified in 7(12.5%. Ptosis was the commonest neurological manifestation seen in 48(85.7% followed by ophthalmoplegia (75%, limb weakness (26.8%, respiratory failure (17.9%, palatal weakness (10.7%, neck muscle weakness (7.1%, and delayed sensory neuropathy (1.8%. Neurological symptoms were experienced usually within 6 hours after the bite. Following administration of antivenom, the signs of recovery became evident within a few hours to several days. The duration for complete recovery ranged from four hours to two weeks. CONCLUSIONS: Complete recovery of neuromuscular weakness was observed in all patients except for one who died with intracerebral haemorrhage shortly after admission.

  18. Correlation between clinical severity and type and degree of pectus excavatum in twelve brachycephalic dogs.

    Science.gov (United States)

    Hassan, Elham A; Hassan, Marwa H; Torad, Faisal A

    2018-05-18

    The aim of the study was to correlate the clinical severity of pectus excavatum with its type and degree based on objective radiographic evaluation. Twelve brachycephalic dogs were included. Grading of the clinical severity was done based on a 6-point grading score. Thoracic radiographs were used to calculate the frontosagittal and vertebral indices at the tenth thoracic vertebra and the vertebra overlying the excavatum. Correlation between the clinical severity score and frontosagittal and vertebral indices was evaluated using Pearson's correlation coefficient. Typical pectus excavatum was recorded in the caudal sternum in seven dogs, with a mean clinical severity score of 1.7 ± 1.4, whereas in five dogs, atypical mid-sternal deviation was recorded with a mean clinical severity score of 3.8 ± 0.7. A strong correlation (r=0.7) was recorded between the clinical severity score and vertebral index in the atypical form, whereas a weak correlation (r=0.02) was recorded in the typical form (Pcorrelated (r=0.3) in the typical form of pectus excavatum, whereas it was strongly correlated (r=0.9) in the atypical form. Pectus excavatum in dogs is associated with compressive cardiopulmonary dysfunction, which depends mainly on the site/type of deviation rather than the degree of deviation.

  19. MRI of symptomatic Rathke`s cleft cyst. MR intensity of cyst contents and clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Takeichi, Yasuhiro [Soseikai General Hospital, Kyoto (Japan); Nakasu, Yoko; Handa, Jyoji

    1997-07-01

    We have not known surgical indications for incidental Rathke`s cleft cysts, because of our lack of knowledge about their natural history. In this study, we investigated whether symptomatic Rathke`s cleft cysts have any characteristic features in magnetic resonance (MR) signal intensities, and analyzed their relation to clinical manifestations and to patterns of suprasellar expansion. MR signal intensities on T1-weighted (T1W) and T2-weighted (T2W) images were categorized into 3 types in 78 cases including our 9 cases; type I, low signal intensity on T1W images and hyperintensity on T2W images in 25 cases; type II, hyperintensity on both T1W and T2W images in 20; and type III, low intensity on T2W images, in other 33. Patients of type I signal intensities presented with significantly high percentage of large cysts compressing the third ventricle than patients with other types. The patients of type I signal intensities also frequently had visual disturbance. Patients in type II showed significantly less percentage of large cysts. Anterior pituitary dysfunction was observed more often in patients of type II and III than patients of type I. We conclude that Rathke`s cleft cysts with MR signal intensity like cerebrospinal fluid (CSF) are slowly growing, and are frequently diagnosed as large cysts associated with visual disturbance. The patients with other types of MR signal intensities may suffer pituitary dysfunction or other symptoms before the cysts compress the hypothalamic region. The assessment of MR signal intensities may contribute in predicting clinical progression in patients with Rathke`s cleft cysts. (author)

  20. Clinical symptoms according to genotype amongst patients with hereditary haemorrhagic telangiectasia

    DEFF Research Database (Denmark)

    Kjeldsen, A D; Møller, T R; Brusgaard, K

    2005-01-01

    BACKGROUND: Hereditary haemorrhagic telangiectasia (HHT) is a dominantly inherited disease, characterized by a wide variety of clinical manifestations, including epistaxis, gastrointestinal (GI) bleeding, pulmonary arteriovenous malformations (PAVMs) and neurological symptoms. HHT is a genetically...... patients had experienced more severe GI bleeding than HHT2 patients. There was no significant difference in severity of epistaxis or age at debut. Finally the mortality over a 90-month observation period was not significantly increased....