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  1. 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. ...

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  4. 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....

  5. 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

  6. 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...

  7. 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.

  8. Clinical manifestations of scrub typhus.

    Science.gov (United States)

    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.

  9. Unusual clinical manifestations of leptospirosis

    Directory of Open Access Journals (Sweden)

    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.

  10. 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.

  11. Clinical Manifestations of the Opiate Withdrawal Syndrome

    Directory of Open Access Journals (Sweden)

    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.

  12. Acute dacryocystitis: another clinical manifestation of sporotrichosis.

    Science.gov (United States)

    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.

  13. Acute dacryocystitis: another clinical manifestation of sporotrichosis

    Directory of Open Access Journals (Sweden)

    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.

  14. Bilingualism delays clinical manifestation of Alzheimer's disease

    OpenAIRE

    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...

  15. 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...

  16. Idiopathic Pulmonary Fibrosis: Diagnosis and Clinical Manifestations

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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

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

    Science.gov (United States)

    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.

  19. 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)

  20. 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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

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

    Directory of Open Access Journals (Sweden)

    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

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

    Directory of Open Access Journals (Sweden)

    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

  7. 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.)

  8. Clinical Manifestations and Outcomes of West Nile Virus Infection

    Directory of Open Access Journals (Sweden)

    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.

  9. 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/

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

    Science.gov (United States)

    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.

  11. 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....

  12. 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.

  13. 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

  14. Clinical Manifestations and Outcome of Syphilitic Uveitis

    NARCIS (Netherlands)

    Bollemeijer, Jan G.; Wieringa, Wietse G.; Missotten, Tom O. A. R.; Meenken, Ina; ten Dam-van Loon, Ninette H.; Rothova, Aniki; Los, Leonoor I.

    PURPOSE. To analyze visual outcome, effectiveness of various modes of antibiotic treatment, and prognostic factors in patients with serologically proven syphilitic uveitis. METHODS. The clinical records of 85 patients (139 eyes) diagnosed with syphilitic uveitis between 1984 and 2013 at tertiary

  15. Retroperitoneal fibrosis: the clinical and radiological manifestation

    International Nuclear Information System (INIS)

    Pan Weidong; Zhao Rongguo; Qin Mingwei; Xue Huadan; Liang Jixiang

    2005-01-01

    Objective: To analyze the clinical and radiological features of retroperitoneal fibrosis (RPF), and to deepen the understanding of this unusual disease and improve the diagnostic level at the early stage. Methods: Fourteen cases (10 males and 4 females, mean age 45.8 years) of pathologically diagnosed RPF from January 1990 to June 2004 were summarized. The clinical and radiological performance of the cases were analyzed. All patients received non-contrast CT scanning, 10 of them underwent enhanced CT scanning as well. 8 patients received MRI, 10 patients received IVP examination, and 11 received B-ultrasound. Results: (1) The very first symptoms usually included back pain, bellyache (10 cases), or urinary tract obstruction (3 cases), with increase of ESR, IgG, CRP value and abnormal renal function. (2) The result of radiological examination showed that 11 lesions of the 14 cases located at retroperitoneum. Ten cases were mass type and 4 cases were diffuse type. Non-contrast CT scanning revealed soft tissue mass at retroperitoneum with in homogenous or homogenous density. After contrast medium injection the lesions were enhanced with different extent. MRI results showed that the lesions presented low signal in T 1 WI, while in T 2 WI the signals had no obvious coherence but were different from one case to another. Conclusion: Radiological examination is one of the important methods for diagnosis of RPF. Based on the different characteristics of RPF in CT and MRI, together with the clinical findings, we will get valuable references for staging and follow-up of RPF. (authors)

  16. Uterine fibroids: clinical manifestations and contemporary management.

    Science.gov (United States)

    Doherty, Leo; Mutlu, Levent; Sinclair, Donna; Taylor, Hugh

    2014-09-01

    Uterine fibroids (leiomyomata) are extremely common lesions that are associated with detrimental effects including infertility and abnormal uterine bleeding. Fibroids cause molecular changes at the level of endometrium. Abnormal regulation of growth factors and cytokines in fibroid cells may contribute to negative endometrial effects. Understanding of fibroid biology has greatly increased over the last decade. Although the current armamentarium of Food and Drug Administration-approved medical therapies is limited, there are medications approved for use in heavy menstrual bleeding that can be used for the medical management of fibroids. Emergence of the role of growth factors in pathophysiology of fibroids has led researchers to develop novel therapeutics. Despite advances in medical therapies, surgical management remains a mainstay of fibroid treatment. Destruction of fibroids by interventional radiological procedures provides other effective treatments. Further experimental studies and clinical trials are required to determine which therapies will provide the greatest benefits to patients with fibroids. © The Author(s) 2014.

  17. Calcium pyrophosphate deposition disease: clinical manifestations

    Directory of Open Access Journals (Sweden)

    M.A. Cimmino

    2012-01-01

    Full Text Available Calcium pyrophosphate deposition (CPPD disease is an arthropathy caused by calcium pyrophosphate dihydrate (CPP crystal deposits in articular tissues, most commonly fibrocartilage and hyaline cartilage. According to EULAR, four different clinical presentations can be observed: 1 asymptomatic CPPD; 2 osteoarthritis (OA with CPPD; 3 acute CPP crystal arthritis; 4 chronic CPP inflammatory crystal arthritis. Acute CPP crystal arthritis is characterized by sudden onset of pain, swelling and tenderness with overlying erythema, usually in a large joint, most often the knee, wrist, shoulder, and hip. Occasionally, ligaments, tendons, bursae, bone and the spine can be involved. CPPD of the atlanto-occipital joint (crowned dens syndrome can cause periodic acute cervico-occipital pain with fever, neck stiffness and laboratory inflammatory syndrome. Chronic inflammatory arthritis is characterized by joint swelling, morning stiffness, pain, and high ESR and CRP. The relationship between OA and CPPD is still unclear. The main problem is whether such crystals are directly involved in the pathogenesis of OA or if they are the result of joint degeneration. Diagnosis is based on evaluation of history and clinical features, conventional radiology, and synovial fluid examination. Non-polarized light microscopy should be used initially to screen for CPPD crystals based upon their characteristic morphology, and compensated polarized light microscopy, showing the crystals to be weakly positive birefringent, is recommended for definitive identification, although this last pattern only occurs in about 20% of samples. The main goals of CPPD therapy are control of the acute or chronic inflammatory reaction and prevention of further episodes.

  18. 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

  19. Chancroid: clinical manifestations, diagnosis, and management.

    Science.gov (United States)

    Lewis, D A

    2003-02-01

    Chancroid is a sexually transmitted disease (STD) caused by the Gram negative bacterium Haemophilus ducreyi and is characterised by necrotising genital ulceration which may be accompanied by inguinal lymphadenitis or bubo formation. H ducreyi is a fastidious organism which is difficult to culture from genital ulcer material. DNA amplification techniques have shown improved diagnostic sensitivity but are only performed in a few laboratories. The management of chancroid in the tropics tends to be undertaken in the context of syndromic management of genital ulcer disease and treatment is usually with erythromycin. A number of single dose regimens are also available to treat H ducreyi infection. Genital ulceration as a syndrome has been associated with increased transmission of human immunodeficiency virus (HIV) infection in several cross sectional and longitudinal studies. Effective and early treatment of genital ulceration is therefore an important part of any strategy to control the spread of HIV infection in tropical countries.

  20. 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)

  1. Clinical Manifestations and Outcome of Syphilitic Uveitis.

    Science.gov (United States)

    Bollemeijer, Jan G; Wieringa, Wietse G; Missotten, Tom O A R; Meenken, Ina; ten Dam-van Loon, Ninette H; Rothova, Aniki; Los, Leonoor I

    2016-02-01

    To analyze visual outcome, effectiveness of various modes of antibiotic treatment, and prognostic factors in patients with serologically proven syphilitic uveitis. The clinical records of 85 patients (139 eyes) diagnosed with syphilitic uveitis between 1984 and 2013 at tertiary centers in The Netherlands were retrospectively analyzed. Mean age was 47 years (range, 27-73 years), 82.4% were male. HIV positivity was found in 28 (35.9%) patients; 13 were newly diagnosed. Most patients had pan (45.9%) or posterior (31.8%) uveitis. On average, logMAR visual acuity (VA) improved significantly from 0.55 at the start of syphilis treatment to 0.34 at 1 month and to 0.27 at 6 months follow-up. Most patients (86.7%) reached disease remission. No differences in efficacy between the various treatment regimens were found. A high logMAR VA at the start of syphilis treatment and a treatment delay of more than 12 weeks were prognostic for a high logMAR VA at 6 months follow-up. Chronicity was not related to any form of treatment, HIV status, or Venereal Disease Research Laboratory test outcome. In this large cohort of 85 patients with syphilitic uveitis, visual outcomes were favorable in the majority of cases. Visual outcome was dependent on VA at the start of syphilis treatment and treatment delay.

  2. 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...

  3. 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.

  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 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 ...

  6. 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...

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

    Directory of Open Access Journals (Sweden)

    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

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

    Science.gov (United States)

    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

  9. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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

  12. Clinical manifestations of primary syphilis in homosexual men

    Directory of Open Access Journals (Sweden)

    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.

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

    Science.gov (United States)

    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.

  14. [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.

  15. 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)

  16. 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

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

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    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.

  18. 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

  19. 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

  20. 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.

  1. 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)

  2. 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.

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

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    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

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

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    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.

  5. 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

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

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    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.

  7. GENDER-SPECIFIC CLINICAL MANIFESTATION OF UNIPOLAR DEPRESSION

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    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.

  8. [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.

  9. 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

  10. 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.

  11. 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.

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

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    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.

  13. 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.

  14. [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.

  15. 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)

  16. 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.

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

    Science.gov (United States)

    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.

  18. 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.

  19. 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 

  20. 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.

  1. 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.

  2. A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN HIV PATIENTS

    Directory of Open Access Journals (Sweden)

    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.

  3. 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

  4. 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

  5. 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.

  6. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  8. 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

  9. Prevalence and clinical manifestations of malaria in Aligarh, India.

    Science.gov (United States)

    Asma, Umm-e; Taufiq, Farha; Khan, Wajihullah

    2014-12-01

    Malaria is one of the most widespread infectious diseases of tropical countries with an estimated 207 million cases globally. In India, there are endemic pockets of this disease, including Aligarh. Hundreds of Plasmodium falciparum and P. vivax cases with severe pathological conditions are recorded every year in this district. The aim of this study is to find out changes in liver enzymes and kidney markers. Specific diagnosis for P. falciparum and P. vivax was made by microscopic examination of Giemsa stained slides. Clinical symptoms were observed in both of these infections. Liver enzymes, such as AST, ALT, and ALP, and kidney function markers, such as creatinine and urea, were estimated by standard biochemical techniques. In Aligarh district, P. vivax, P. falciparum, and mixed infections were 64%, 34%, and 2%, respectively. In case of P. falciparum infection, the incidences of anemia, splenomegaly, renal failure, jaundice, and neurological sequelae were higher compared to those in P. vivax infection. Recrudescence and relapse rates were 18% and 20% in P. falciparum and P. vivax infections, respectively. Liver dysfunctions and renal failures were more common in P. falciparum patients, particularly in elderly patients. Artesunate derivatives must, therefore, be introduced for the treatment of P. falciparum as they resist to chloroquine as well as sulfadoxine-pyrimethamine combinations.

  10. 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.

  11. 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...

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

    Science.gov (United States)

    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.

  13. 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)

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

    Directory of Open Access Journals (Sweden)

    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.

  15. 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.

  16. Anti-NMDA receptor encephalitis. Clinical manifestations and pathophysiology

    International Nuclear Information System (INIS)

    Iizuka, Takahiro; Sakai, Fumihiko

    2008-01-01

    /forebrain. The target extracellular epitopes are not detectable by immunoblotting, and should not be confused with the linear epitopes of NR2B subunits (also known as ε2). The antibodies disappear with clinical improvement, suggesting their pathogenic role. Autopsies revealed IgG deposits in the hippocampus, extensive microgliosis, rare T-cell infiltrates, and neuronal degeneration predominantly involving, but not restricted to, the hippocampus. The nervous tissues of the tumors exhibit not only strong expression of the NR2B subunits but also reactivity with the patients' antibodies. The pathogenesis remains unknown; however, this disorder is considered to be an antibody-mediated encephalitis. Based on the current NMDAR hypofunction hypothesis of schizophrenia, we speculate that the antibodies may cause inhibition rather than stimulation of NMDARs in presynaptic GABAergic interneurons, causing a reduction in gamma aminobutyric acid (GABA) release. This results in disinhibition of postsynaptic glutamatergic transmission, excessive release of glutamate in the prefrontal/subcortical structures, and glutamate and dopamine dysregulation that might contribute to development of schizophrenia-like psychosis and bizarre dyskinesias. The antibodies were initially found only in young women with teratoma in the ovaries. However, recent studies show that this disorder can occur even in the absence of teratoma in up to 35% of patients, and even boys and adult men had been affected. Although recovery occurs without the need for tumor removal, the severity and extended duration of symptoms support tumor removal. Combined therapy including tumor resection and immunotherapy is recommended. In this review, we also discuss the relationship between anti-NMDAR encephalitis and related disorders, including acute diffuse lymphocytic meningoencephalitis and acute juvenile female non-herpetic encephalitis (AJFNHE). (author)

  17. 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...

  18. The Clinical Spectrum of Neurological Manifestations in HIV/AIDS ...

    African Journals Online (AJOL)

    Background: The human immunodeficiency virus (HIV) is primarily neurotrophic and lymphotrophic. Diverse neurologic sequealae have been documented with variations based on disease severity, but geographic variation may determine the distribution of these neurological complications. Objective: This study was ...

  19. Hyperthyroidism in four guinea pigs: clinical manifestations, diagnosis, and treatment.

    Science.gov (United States)

    Künzel, F; Hierlmeier, B; Christian, M; Reifinger, M

    2013-12-01

    Hyperthyroidism was diagnosed in four guinea pigs by demonstration of an increased serum total thyroxine concentration. The main clinical signs were comparable with those observed in feline hyperthyroidism and included weight loss despite maintenance of appetite and a palpable mass in the ventral cervical region. Three animals were treated successfully with methimazole for between 13 and 28 months. Clinical signs and regular measurement of circulating total thyroxine concentrations appear to be convenient parameters for monitoring response to medical therapy. © 2013 British Small Animal Veterinary Association.

  20. Clinical manifestations, diagnosis, and treatment of Mycobacterium haemophilum infections.

    NARCIS (Netherlands)

    Lindeboom, J.A.; Bruijnesteijn van Coppenraet, L.E.; Soolingen, D. van; Prins, J.M.; Kuijper, E.J.

    2011-01-01

    Mycobacterium haemophilum is a slowly growing acid-fast bacillus (AFB) belonging to the group of nontuberculous mycobacteria (NTM) frequently found in environmental habitats, which can colonize and occasionally infect humans and animals. Several findings suggest that water reservoirs are a likely

  1. Clinical manifestations, diagnosis, and treatment of Mycobacterium haemophilum infections

    NARCIS (Netherlands)

    Lindeboom, J.A.; Bruijnesteijn van Coppenraet, L.E.S.; van Soolingen, D.; Prins, J.M.; Kuijper, E.J.

    2011-01-01

    Mycobacterium haemophilum is a slowly growing acid-fast bacillus (AFB) belonging to the group of nontuberculous mycobacteria (NTM) frequently found in environmental habitats, which can colonize and occasionally infect humans and animals. Several findings suggest that water reservoirs are a likely

  2. 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

  3. Clinical Manifestations of Helicobacter pylori-Negative Gastritis.

    Science.gov (United States)

    Shiota, Seiji; Thrift, Aaron P; Green, Linda; Shah, Rajesh; Verstovsek, Gordana; Rugge, Massimo; Graham, David Y; El-Serag, Hashem B

    2017-07-01

    There are data to suggest the existence of non-Helicobacter pylori gastritis. However, the risk factors and clinical course for H pylori-negative gastritis remain unclear. We aimed to examine the prevalence and determinants of H pylori-negative gastritis in a large multiethnic clinical population. We conducted a cross-sectional study among patents scheduled for an elective esophagastroduodenoscopy or attending selected primary care clinics and eligible for screening colonoscopy at a single Veterans Affairs medical center. We identified cases of H pylor-negative gastritis, H pylori-positive gastritis, and H pylori-negative nongastritis, where gastritis was defined by the presence of neutrophils and/or mononuclear cells. Risk factors for H pylori-negative gastritis were analyzed in logistic regression models. A total of 1240 patients had information from all biopsy sites, of whom 695 (56.0%) had gastritis. H pylori-negative gastritis was present in 123 patients (9.9% of all study subjects and 17.7% of all patients with gastritis). Among all patients with gastritis, African Americans were statistically significantly less likely than non-Hispanic whites to have H pylori-negative gastritis (odds ratio, 0.25; 95% confidence interval, 0.14-0.43). Conversely, PPI users were more likely to have H pylori-negative gastritis than H pylori-positive gastritis compared with nonusers (odds ratio, 2.02; 95% confidence interval, 1.17-3.49). The cumulative incidence of gastric erosions and ulcers were higher in patients with H pylori-negative gastritis than H pylori-negative nongastritis. We found that H pylori-negative gastritis was present in approximately 18% of patients with gastritis. The potential for H pylori-negative gastritis to progress or the risk of gastric cancer of those with gastric mucosal atrophy/intestinal metaplasia remains unclear. Copyright © 2017 AGA Institute. Published by Elsevier Inc. All rights reserved.

  4. Clinical manifest x-linked recessive adrenoleukodystrophy in a female

    DEFF Research Database (Denmark)

    Jack, Gyda Hlin Skuladottir; Malm-Willadsen, Karolina; Frederiksen, Anja

    2013-01-01

    Adrenoleukodystrophy (ALD) is a rare X-linked inherited leukodystrophy with a reduced capacity for degradation of very long chain fatty acids (VLCFAs). The intracellular accumulation of VLCFA leads to demyelination in the central nervous system (CNS) and cell destruction in the adrenal glands. ALD...... examination revealed decreased sensitivity in the feet, particularly to touch. Deep tendon reflexes in the lower limbs were brisk, and Babinski's sign was present bilaterally. Multiple sclerosis (MS) was excluded, and all clinical and biochemical tests were normal. After two years of progressing symptoms...

  5. 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.

  6. 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

  7. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  9. 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.

  10. 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.

  11. Stroke as the First Clinical Manifestation of Takayasu's Arteritis.

    Science.gov (United States)

    Pereira, Vanessa Caldeira; de Freitas, Carlos Clayton Macedo; Luvizutto, Gustavo José; Sobreira, Marcone Lima; Peixoto, Daniel Escobar Bueno; Magalhães, Inaldo do Nascimento; Bazan, Rodrigo; Braga, Gabriel Pereira

    2014-09-01

    Takayasu's arteritis is a chronic inflammatory disease, and neurological symptoms occur in 50% of cases, most commonly including headache, dizziness, visual disturbances, convulsive crisis, transient ischemic attack, stroke and posterior reversible encephalopathy syndrome. The aim of this study was to report the case of a young Brazilian female with a focal neurological deficit. She presented with asymmetry of brachial and radial pulses, aphasia, dysarthria and right hemiplegia. Stroke was investigated extensively in this young patient. Only nonspecific inflammatory markers such as velocity of hemosedimentation and C-reactive protein were elevated. During hospitalization, clinical treatment was performed with pulse therapy showing improvement in neurological recuperation on subsequent days. In the chronic phase, the patient was submitted to medicated angioplasty of the brachiocephalic trunk with paclitaxel, with significant improvement of the stenosis. At the 6-month follow-up, the neurological exam presented mild dysarthria, faciobrachial predominant disproportionate hemiparesis, an NIHSS score of 4 and a modified Rankin Scale score of 3 (moderate incapacity). In conclusion, Takayasu's arteritis must be recognized as a potential cause of ischemic stroke in young females.

  12. [Orofacial clinical manifestations in adult patients with variable common immunodeficiency].

    Science.gov (United States)

    Chávez-García, Aurora Alejandra; Moreno-Alba, Miguel Ángel; Elizalde-Monroy, Martín; Segura-Méndez, Nora Hilda; Romero-Flores, Jovita; Cambray-Gutiérrez, Julio César; López-Pérez, Patricia; Del Rivero-Hernández, Leonel Gerardo

    2015-01-01

    Common variable immunodeficiency is the primary immunodeficiency (CVID) frequently found in adults. Its prevalence is estimated from 1:25,000 to 75,000 alive newborns; there are variations by ethnic groups, it is estimated about 50-70% in Caucasian patients. Oral cavity lesions are rarely found in adult patients with CVID, there are reports about lesions on pediatric patients mostly caused by infections. To describe the orofacial lesions (oral, maxillofacial and neck area) affecting adults with CVID. A transversal, prospective study was done in patients with CVID attended at Specialties Hospital, CMN SXXI, Mexico City. Patients where examined by the oral and maxillofacial surgeon and clinical findings were reported, then the descriptive analysis of the lesions was done. We evaluated 26 patients, 16 female and 10 males, average age of 38.6 years. In 18/26 patients we found oral lesions on 7 different types. The most frequent was minor salivary glands hiperplasia (19/26),petechiae (12/26) and herpetic ulcers (7/26). In head and neck, we found 4 different lesions, the most common was lymphadenopathy <2cm (4/26). The immunologic alterations associated to CVID favors the development of lesions mainly of infectious and probably autoinmune origin that affects the oral cavity and head and neck area.

  13. 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.

  14. Ela2 mutations and clinical manifestations in familial congenital neutropenia.

    Science.gov (United States)

    Shiohara, Masaaki; Shigemura, Tomonari; Saito, Shoji; Tanaka, Miyuki; Yanagisawa, Ryu; Sakashita, Kazuo; Asada, Hiroshi; Ishii, Eizaburo; Koike, Kazutoshi; Chin, Motoaki; Kobayashi, Masao; Koike, Kenichi

    2009-05-01

    Three familial cases of each of severe congenital neutropenia (SCN) and cyclic neutropenia (CN) in addition to 3 sporadic cases of SCN were analyzed for neutrophil elastase (Ela2) gene mutation. The contents of the neutrophil-specific granule proteins cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were also analyzed in SCN. Genomic DNA was extracted from the patients' peripheral blood or bone marrow, and the coding sequence of the Ela2 gene was amplified by polymerase chain reaction and subjected to direct sequencing. The contents of antimicrobial peptides were analyzed by flow cytometry. Three cases of familial SCN (P13L, R52P, and S97L), 2 of familial CN (W212stop and P110L), and 1 of sporadic SCN (V72M) were shown to have heterozygous mutations in the Ela2 gene. W212stop found in a familial CN case was a novel mutation of Ela2. Prophylactic treatment for growth factors or antibiotic prophylaxis against bacterial infection was useful for lowering the frequency of infectious episodes. Adult patients tended to have less frequent infections compared with minors in the same family. The contents of both cathelicidin antimicrobial peptide and neutrophil gelatinase-associated lipocalin were significantly reduced in SCN compared with healthy controls. Prophylaxis by growth factor or antibiotics is useful for decreasing risks of bacterial infections in SCN and CN. Adults were likely to have less frequent infections than children in familial cases of SCN and CN with the same mutation of Ela2.

  15. Detection and clinical manifestation of placental malaria in southern Ghana

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    Acquah Patrick A

    2006-12-01

    Full Text Available Abstract Background Plasmodium falciparum can be detected by microscopy, histidine-rich-protein-2 (HRP2 capture test or PCR but the respective clinical relevance of the thereby diagnosed infections in pregnant women is not well established. Methods In a cross-sectional, year-round study among 839 delivering women in Agogo, Ghana, P. falciparum was screened for in both, peripheral and placental blood samples, and associations with maternal anaemia, low birth weight (LBW and preterm delivery (PD were analysed. Results In peripheral blood, P. falciparum was observed in 19%, 34%, and 53% by microscopy, HRP2 test, and PCR, respectively. For placental samples, these figures were 35%, 41%, and 59%. Irrespective of diagnostic tool, P. falciparum infection increased the risk of anaemia. Positive peripheral blood results of microscopy and PCR were not associated with LBW or PD. In contrast, the HRP2 test performed well in identifying women at increased risk of poor pregnancy outcome, particularly in case of a negative peripheral blood film. Adjusting for age, parity, and antenatal visits, placental HRP2 was the only marker of infection associated with LBW (adjusted odds ratio (aOR, 1.5 (95%CI, 1.0–2.2 and, at borderline statistical significance, PD (aOR, 1.4 (1.0–2.1 in addition to anaemia (aOR, 2.3 (1.7–3.2. Likewise, HRP2 in peripheral blood of seemingly aparasitaemic women was associated with PD (aOR, 1.7 (1.0–2.7 and anaemia (aOR, 2.1 (1.4–3.2. Conclusion Peripheral blood film microscopy not only underestimates placental malaria. In this highly endemic setting, it also fails to identify malaria as a cause of foetal impairment. Sub-microscopic infections detected by a HRP2 test in seemingly aparasitaemic women increase the risks of anaemia and PD. These findings indicate that the burden of malaria in pregnancy may be even larger than thought and accentuate the need for effective anti-malarial interventions in pregnancy.

  16. 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.

  17. 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...

  18. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  20. 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...

  1. 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.

  2. 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

  3. 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)

  4. 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.

  5. 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.

  6. 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

  7. 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

  8. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  11. 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.

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

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    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.

  13. Case report of an infant with severe vitamin D deficiency rickets manifested as hypocalcemic seizures

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    Vuletić Biljana

    2016-01-01

    Full Text Available Introduction. Hypocalcemic seizures are uncommon in the post-neonatal period. We report an infant with hypocalcemic seizures caused by severe deficiency of vitamin D. Case Outline. A five-month-old male infant was admitted to hospital in March 2013 with recurrent generalized afebrile seizures resistant to clonazepam therapy. At the clinical examination, the infant showed characteristic rachitic signs, so that after a blood sample was taken for laboratory testing, the infant was given infusion of 2 ml/kg of 10% of calcium gluconate at a rate of 0.5 ml/min. The treatment resulted in immediate termination of seizures and normalization of the consciousness of the infant. Blood sample analysis showed extremely low levels of free and total calcium (0.36/1.24 mmol/l and 25(OHD (<3 ng/ml, elevated alkaline phosphatase (878 U/l and parathyroid hormone (283 pg/ml, and low calcium/creatinine ratio (mg/mg in a portion of urine (0.03, while the levels of serum phosphorus, pH, total protein, albumin and creatinine were within the reference range. Wrist X-ray showed typical signs of rickets. In order to fully stabilize calcium homeostasis, along with 2,000 IU of vitamin D3 daily and standard cow’s milk formula, calcium gluconate (80 mg/kg daily was given orally over a period of two weeks. The treatment resulted in complete stabilization of the infant’s condition and rapid improvement in laboratory, radiological and clinical findings of rickets. Conclusion. Generalized convulsions in the afebrile infant represent a serious and etiopathogenically very heterogeneous problem. Extremely rare, as in the case of our patient, it may be due to severe hypocalcemia caused by a deficiency of vitamin D.

  14. 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.

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

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    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

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

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    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.

  17. 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

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    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.

  18. 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

  19. 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.

  20. Metabolic profile of clinically severe obese patients.

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    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.

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

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    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.

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

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    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.

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

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    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.

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

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    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.

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

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    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.

  6. 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.

  7. 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.

  8. 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.

  9. 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

  10. 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.

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

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    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.

  12. 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.

  13. 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.

  14. [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.

  15. 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.

  16. [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.

  17. 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.

  18. 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.

  19. 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.

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

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    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.

  1. 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.

  2. 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.

  3. 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.

  4. 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.

  5. [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.

  6. 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.

  7. 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.

  8. 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

  9. [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.

  10. 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

  11. 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

  12. 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

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

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    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. 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.

  15. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

  17. 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

  18. 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)

  19. 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.

  20. 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.

  1. 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.)

  2. 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.

  3. 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.

  4. 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

  5. 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...

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

    Directory of Open Access Journals (Sweden)

    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.

  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. 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.

  9. 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.

  10. 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.

  11. 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

  12. 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.

  13. 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.

  14. 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).

  15. [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

  16. 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

  17. 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

  18. Pulmonary manifestations of leptospirosis

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    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.

  19. The relationship between radiological features and clinical manifestation and dental expenses of keratocystic odontogenic tumor

    International Nuclear Information System (INIS)

    Min, Jung Hyun; Huh, Kyung Heo; Heo, Min Suk; Choi, Soon Chul; Lee, Sam Sun; Bae, Kwang Hak; Choi, Jin Woo

    2013-01-01

    This study was performed to identify correlations between keratocystic odontogenic tumor (KCOT) data from CT sections, and data on the KCOT clinical manifestation and resulting dental expenses. Following local Institutional Review Board (IRB) approval, a seven-years of retrospective study was performed regarding patients with KCOTs treated at the Seoul National University Dental Hospital. A total of 180 KCOT were included in this study. The following information was collected: age, gender, location and size of the lesion, radiological features, surgical treatment provided and dental expenses. There was no significant association between the size of the KCOT and age, gender, and presenting preoperative symptoms. In both jaws, it was unusual to find KCOTs under 10 mm. The correlation between the number of teeth removed and the size of the KCOT in the tooth bearing area was statistically significant in the mandible, whereas in the maxilla, no significant relationship was found. Dental expenses compared with the size of the KCOT were found to be significant in both jaws. The size of KCOT was associated with a significant increase in dental expenses for both jaws and the number of teeth removed from the mandible. These findings emphasize the importance of routine examinations and early detection of lesions, which in turn helps preserving anatomical structures and reducing dental expenses.

  20. 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.

  1. 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)

  2. 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.

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

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    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

  4. The relationship between radiological features and clinical manifestation and dental expenses of keratocystic odontogenic tumor

    Energy Technology Data Exchange (ETDEWEB)

    Min, Jung Hyun; Huh, Kyung Heo; Heo, Min Suk; Choi, Soon Chul; Lee, Sam Sun; Bae, Kwang Hak [Dept. of School of Dentistry, Seoul National University, Seoul (Korea, Republic of); Choi, Jin Woo [Dept. of Oral and Maxillofacial Radiology, Dankook University College of Dentistry, Cheonan (Korea, Republic of)

    2013-06-15

    This study was performed to identify correlations between keratocystic odontogenic tumor (KCOT) data from CT sections, and data on the KCOT clinical manifestation and resulting dental expenses. Following local Institutional Review Board (IRB) approval, a seven-years of retrospective study was performed regarding patients with KCOTs treated at the Seoul National University Dental Hospital. A total of 180 KCOT were included in this study. The following information was collected: age, gender, location and size of the lesion, radiological features, surgical treatment provided and dental expenses. There was no significant association between the size of the KCOT and age, gender, and presenting preoperative symptoms. In both jaws, it was unusual to find KCOTs under 10 mm. The correlation between the number of teeth removed and the size of the KCOT in the tooth bearing area was statistically significant in the mandible, whereas in the maxilla, no significant relationship was found. Dental expenses compared with the size of the KCOT were found to be significant in both jaws. The size of KCOT was associated with a significant increase in dental expenses for both jaws and the number of teeth removed from the mandible. These findings emphasize the importance of routine examinations and early detection of lesions, which in turn helps preserving anatomical structures and reducing dental expenses.

  5. 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.

  6. 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)

  7. 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.

  8. 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

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

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    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.

  11. 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

  12. 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.

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

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    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.

  14. Clinical severity and prognosis of hand eczema

    DEFF Research Database (Denmark)

    Hald, M; Agner, T; Blands, J

    2009-01-01

    ) and by patients using a self-administered photographic guide. Additional information was obtained from a baseline questionnaire. RESULTS: At baseline, 60.3% assessed their HE as moderate to very severe using the self-administered photographic guide compared with 36.1% at follow-up. The mean HECSI value decreased...

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

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    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.

  16. 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.

  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. 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. Severe manifestation of Bartter syndrome Type IV caused by a novel insertion mutation in the BSND gene.

    Science.gov (United States)

    de Pablos, Augusto Luque; García-Nieto, Victor; López-Menchero, Jesús C; Ramos-Trujillo, Elena; González-Acosta, Hilaria; Claverie-Martín, Félix

    2014-05-01

    Bartter syndrome Type IV is a rare subtype of the Bartter syndromes that leads to both severe renal salt wasting and sensorineural deafness. This autosomal recessive disease is caused by mutations in the gene encoding barttin, BSND, an essential subunit of the ClC-K chloride channels expressed in renal and inner ear epithelia. Patients differ in the severity of renal symptoms, which appears to depend on the modification of channel function by the mutant barttin. To date, only a few BSND mutations have been reported, most of which are missense or nonsense mutations. In this study, we report the identification of the first insertion mutation, p.W102Vfs*7, in the BSND gene of a newborn girl with acute clinical symptoms including early-onset chronic renal failure. The results support previous data indicating that mutations that are predicted to abolish barttin expression are associated with a severe phenotype and early onset renal failure.

  20. 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.

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

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    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.

  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. A comparative, population-based analysis of pituitary incidentalomas vs clinically manifesting sellar masses

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    Nadine M Vaninetti

    2018-05-01

    Full Text Available Purpose: Sellar masses may present either with clinical manifestations of mass effect/hormonal dysfunction (CMSM or incidentally on imaging (pituitary incidentaloma (PI. This novel population-based study compares these two entities. Methods: Retrospective analysis of all patients within a provincial pituitary registry between January 2006 and June 2014. Results: Nine hundred and three patients were included (681 CMSM, 222 PI. CMSM mainly presented with secondary hormone deficiencies (SHDs or stalk compression (29.7%, whereas PIs were found in association with neurological complaints (34.2% (P < 0.0001. PIs were more likely to be macroadenomas (70.7 vs 49.9%; P < 0.0001. The commonest pathologies among CMSM were prolactinomas (39.8% and non-functioning adenomas (NFAs (50% in PI (P < 0.0001. SHDs were present in 41.3% CMSM and 31.1% PI patients (P < 0.0001 and visual field deficit in 24.2 and 29.3%, respectively (P = 0.16. CMSM were more likely to require surgery (62.9% than PI (35.8% (P < 0.0005. The commonest surgical indications were impaired vision and radiological evidence of optic nerve compression. Over a follow-up period of 5.7 years for CMSM and 5.0 years for PI, tumour growth/recurrence occurred in 7.8% of surgically treated CMSM and 2.6% without surgery and PI, 0 and 4.9%, respectively (P = 1.0. There were no significant differences in the risk of new-onset SHD in CMSM vs PI in those who underwent surgery (P = 0.7 and those who were followed without surgery (P = 0.58. Conclusions: This novel study compares the long-term trends of PI with CMSM, highlighting the need for comprehensive baseline and long-term radiological and hormonal evaluations in both entities.

  4. THE CLINICAL MANIFESTATIONS AND COURSE OF DUODENAL ULCER DISEASE AFTER PERFORATED ULCER

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    L. A. Lyubskaya

    2014-01-01

    Full Text Available Objective: to compare clinical manifestations, course, mental status in duodenal ulcer (DU patients with a history of perforated ulcer and its uncomplicated course.Subjects and methods. One hundred and thirteen patents with DU were examined. Group 1 included 61 patients with uncomplicated DUand Group 2 comprised 52 patients with a history of perforated ulcer. A comparison group consisted of 20 patients who had undergone laparotomy. Physical and mental status examinations, esophagogastroduodenoscopy (EGDS, and 24-hour pH-metry were performed.Results. Classical pain syndrome was observed in 75 % of the patients with uncomplicated DU. Prior to perforation, the pain and dyspeptic syndromes were distinguished only by a significantly lower degree in Group 2; following perforation, the pain syndrome was recorded more frequently, it was more extensive, meal-unrelated, and similar to that in the patients who had undergone laparotomy and had diminished appetite (36.5 %. EGDS showed that the complicated course was accompanied by the significantly higher incidence of erosive esophagitis (21.2 %, gastritis (51.9 %, duodenitis (25.0 %, multiple ulcers (28.8 %, and larger ulcers. 24-hour pH-metry indicated that the level of hyperacidity in Group 2 was higher and the circadian intragastric pH variations were less marked than those in uncomplicated DU. The patients with a history of perforated ulcer showed a high rate of anxiety and depressive changes. Conclusion. In complicated DU, marked monotonic hyperacidity causes common erosive-ulcerative lesions in the gastroduodenal area in relatively mild pain syndrome, late referrals, and long-term ulcer healing. After perforation followed by wound closure, the pain and dyspeptic syndromes become more pronounced, which is associated with anxiety and depressive changes in the mental status, as well as with early referrals and less healing time.

  5. A CLINICAL STUDY ON THE DERMATOLOGICAL MANIFESTATIONS OF OBESITY AT A TERTIARY CARE CENTRE IN COIMBATORE

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    Ramasamy Periyapatti Palanisamy

    2016-07-01

    Full Text Available BACKGROUND Obesity is a major concern in our era. Obese individuals have numerous physiological changes which predispose them to many dermatological conditions. This study was done to find the common dermatoses associated in adults with a BMI of > 30 kg/m2 who presented to the Skin Outpatient Department of Coimbatore Medical College Hospital. OBJECTIVES To study the prevalence of various dermatological manifestations of obesity, age, sex distribution, morphology of individual lesions associated with obesity and their association with BMI and lipid profile. METHODOLOGY This is a descriptive study conducted from August 2014 to July 2015. Hundred patients with age > 12 yrs. and BMI > 30 kg/m2 were selected and included in the study. Diabetes was ruled out and lipid profile was carried out for all patients. Other necessary investigations like biopsy, KOH mount and immunofluorescence were done for relevant cases. RESULTS There were 100 patients with 169 dermatoses seen in the study. Male female ratio was 1.5: 1. Most cases belonged to the age group of 31-40. Nearly 76% all cases were in grade 1 obesity according to their BMI levels. Only 3 cases were seen in grade 3 obesity. Lipid profile alterations were seen in 29% of all cases. Skin tag was the most common dermatosis seen in the study followed by acanthosis nigricans, plantar hyperkeratosis and striae. CONCLUSION Severity of obesity also determines the nature of lesions occurring in the patients. Early identification of these conditions can be useful in preventing the deleterious effects of obesity on the body. Treatment of lipid profile abnormalities in addition to weight reduction can decrease the occurrence of these dermatoses.

  6. Cohort study on maternal cytomegalovirus seroprevalence and prevalence and clinical manifestations of congenital infection in China

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    Wang, Shiwen; Wang, Tongzhan; Zhang, Wenqiang; Liu, Xiaolin; Wang, Xiaofang; Wang, Haiyan; He, Xiaozhou; Zhang, Shunxian; Xu, Shuhui; Yu, Yang; Jia, Xingbing; Wang, Maolin; Xu, Aiqiang; Ma, Wei; Amin, Minal M.; Bialek, Stephanie R.; Dollard, Sheila C.; Wang, Chengbin

    2017-01-01

    Abstract Congenital cytomegalovirus (CMV) infection is the leading viral cause of birth defects and developmental disabilities in developed countries. However, CMV seroprevalence and burden of congenital CMV infection are not well defined in China. Cohort of newborns from 5 birthing hospitals in 2 counties of Shandong Province, China, were enrolled from March 2011 to August 2013. Dried blood spots (DBS) and saliva were collected within 4 days after birth for IgG testing for maternal seroprevalence and real-time PCR testing for congenital CMV infection, respectively. Among 5020 newborns tested for CMV IgG, 4827 were seropositive, resulting in CMV maternal seroprevalence of 96.2% (95% confidence interval [CI]:95.6%–96.7%). Of the 10,933 newborns screened for congenital CMV infection, 75 had CMV detected, resulting in an overall prevalence of 0.7% (95% CI: 0.5%–0.9%), with prevalences of 0.4% (14/3995), 0.6% (66/10,857), and 0.7% (52/7761) for DBS, wet saliva, and dried saliva specimens screened, respectively. Prevalence of congenital CMV infection decreased with increasing maternal age (0.9%, 0.6%, and 0.3% among newborns delivered from mothers aged 16–25, 26–35, and >35 years, respectively; P = 0.03), and was higher among preterm infants than full term infants (1.3% vs 0.6%, P = 0.04), infants with intrauterine growth restriction (IUGR) than those without (1.8% vs 0.7%, P = 0.03), and twins or triplets than singleton pregnancies (2.8% vs 0.7%, P = 0.04). None of the 75 newborns exhibited symptomatic congenital CMV infection, and there was no difference in clinical characteristics and newborn hearing screening results between infants with and without congenital CMV infection at birth. Congenital CMV infection prevalence was lower and the clinical manifestations were milder in this relatively developed region of China compared to populations from other countries with similarly high maternal seroprevalence. Follow-up on children with congenital

  7. 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

  8. 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.

  9. Neuropsychiatric manifestations of scrub typhus

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    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. 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

  11. Norovirus infection: features of epidemiology and clinical and laboratory manifestations at the present stage

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    N.V. Pronko

    2017-02-01

    . Among 156 patients with NVI, there were 75 boys (48.1 % and 81 girls (51.9 %, and no significant differences were noticed in the sex of the patients. There were 95 organized (60.9 % and 61 unorganized children (39.1 %. In the majority of cases, NVI manifes­ted itself as monoinfection (92.9 %, while mixed infection occurred in 7.1 % of the cases. The mixed infection was due to a combination of two viruses — norovirus-rotavirus associated with pathogenic flora (Staphylococcus, Proteus. The analysis of the age structure of the group of children with noroviral infection showed that children aged up to 1 year amounted to 31 patients (19.9 %, those of 1 to 3 years of age — to 93 patients (59.6 %, there were 21 children aged 4–6 years (13.5 % and 7 patients aged 7–10 years (3.8 %, whereas the number of 1–14-year olds amounted to 5 patients (3.2 %. At the moment of disease, the majority of the children examined were at the age of the first three years of life (76.9 %. Acute gastroenteritis was diagnosed in 132 (84.6 % patients, acute gastroenterocolitis — in 9 patients (5.8 %, and 15 patients had acute enteritis. The analysis of the clinical course of NVI enabled us to identify such symptoms, as general infectious and gastroenteritis. The clinical picture of NVI showed that the leading syndrome was that of acute gastroenteritis. The disease started from vomiting, changing of stool characteristics and frequency, and increasing of temperature. Manifestations of intoxication were noted in 136 (87.29 % patients. The patients had also sluggishness, weakness, decreased appetite and I to II degree water-deficient exsicosis. The assessment of the premorbid background established that the majority of children with NVI had the appropriate pathology and a compromised premorbid background. Conclusions. Viral intestinal diseases are one of the leading causes of infectious gastroenteritis in children of the first three years of age in Grodno region. NVI were characterized by

  12. Clinical manifestations of colorectal cancer patients from a large multicenter study in Colombia.

    Science.gov (United States)

    Bohorquez, Mabel; Sahasrabudhe, Ruta; Criollo, Angel; Sanabria-Salas, María Carolina; Vélez, Alejandro; Castro, Jorge Mario; Marquez, Juan Ricardo; Mateus, Gilbert; Bolaños, Fernando; Panqueva, Cesar; Restrepo, Jose Ignacio; Puerta, Juan Dario; Murillo, Raul; Bravo, María Mercedes; Hernández, Gustavo; Rios, Angela; Prieto, Rodrigo; Tomlinson, Ian; Echeverry, Magdalena; Carvajal-Carmona, Luis G

    2016-10-01

    Colorectal cancer (CRC) is a major public health problem, and its incidence is rising in developing countries. However, studies characterizing CRC clinicopathological features in cases from developing countries are still lacking. The goal of this study was to evaluate clinicopathological and demographic features in one of the largest CRC studies in Latin America.The study involved over 1525 CRC cases recruited in a multicenter study in Colombia between 2005 and 2014 as part of ongoing genetic and epidemiological studies. We gathered clinicopathological data such as age at diagnosis, sex, body mass index, tobacco and alcohol consumption, family history of cancer, and tumor features including location, histological type, and stage. Statistical analyses were performed to test the association between age of onset, sex, and clinical manifestations.The average age at CRC diagnosis was 57.4 years, with 26.5% of cases having early-onset CRC (diagnosed by age 50 years). Most cases were women (53.2%; P = 0.009), 49.2% were overweight or obese, 49.1% were regular alcohol drinkers, 52% were smokers/former smokers, and 12.2% reported relatives with cancer. Most tumors in the study were located in the rectum (42.7%), were adenocarcinomas (91.5%), and had advanced stage (T3-T4, 79.8%). Comparisons by sex found that male cases were more likely to be obese (36.5% vs 31.1%; P = 0.001), less likely to have a family history of cancer (9.7% vs 15.3%; P = 0.016), and more likely to have advanced-stage tumors (83.9% vs 76.1%; P = 0.036). Comparisons by age of onset found that early-onset cases were more likely to be women (59.3% vs 51.0%; P = 0.005) and report a family history of cancer (17.4% vs 10.2%; P = 0.001).To our knowledge, our study is the largest report of clinicopathological characterization of Hispanic CRC cases, and we suggest that further studies are needed to understand CRC etiology in diverse Hispanic populations.

  13. Clinical case definition and manifestations of paradoxical tuberculosis-associated immune reconstitution inflammatory syndrome.

    Science.gov (United States)

    Manosuthi, Weerawat; Van Tieu, Hong; Mankatitham, Wiroj; Lueangniyomkul, Aroon; Ananworanich, Jintanat; Avihingsanon, Anchalee; Siangphoe, Umaporn; Klongugkara, Sukonsri; Likanonsakul, Sirirat; Thawornwan, Unchana; Suntisuklappon, Bussakorn; Sungkanuparph, Somnuek

    2009-11-27

    The International Network for the Study of HIV-associated IRIS (INSHI) recently published criteria for tuberculosis-associated immune reconstitution inflammatory syndrome (TB-IRIS) diagnosis. The performance of this definition and clinical manifestations of TB-IRIS were studied. Antiretroviral therapy-naive HIV/TB Thai patients receiving antituberculous therapy were enrolled during 2006-2007 and prospectively followed through 24 weeks of antiretroviral therapy. Patients were defined as having paradoxical TB-IRIS if they fulfilled the 'study definition' by French 2004 and were confirmed by an external reviewer. All were later compared by the classification according to 'INSHI-2008'. For the 126 patients, median baseline CD4 cell count was 43 cells/microl and HIV-1 RNA was 5.9 log(10) Y copies/ml. Seventy-three (58%) had extrapulmonary/disseminated TB. Twenty-two (18%) and 21 (17%) fulfilled TB-IRIS criteria according to the study definition and INSHI-2008 definition, respectively. Two (2%) were diagnosed by study definition only and one (1%) by INSHI-2008 definition only. Twenty (16%) were concordantly diagnosed by both definitions and 103 (82%) were consistently negative. Eighteen (82%) had worsening of a preexisting site, whereas four (18%) had TB-IRIS in a new location. Lymph node enlargement (73%) and fever (59%) were common in TB-IRIS. Sensitivity and specificity of INSHI-2008 was 91% (95% confidence interval, 72-98%) and 99% (95% confidence interval, 95-99.8%), respectively. Positive predictive value was 95% and negative predictive value was 98%. By multivariate analysis, factors predicting TB-IRIS were extrapulmonary TB (odds ratio, 8.63) and disseminated TB (odds ratio, 4.17). There was high concordance between the INSHI-2008 and French 2004 definition for TB-IRIS diagnosis in HIV/TB patients with relatively high rate of paradoxical TB-IRIS. This suggests that lack of HIV-1 RNA and CD4 cell count monitoring does not impede the ability to diagnose TB-IRIS.

  14. 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.

  15. Wasting syndrome with deep bradycardia as presenting manifestation of long-standing severe male hypogonadotropic hypogonadism: a case series.

    Science.gov (United States)

    Passeri, Elena; Bonomi, Marco; Dangelo, Francesco; Persani, Luca; Corbetta, Sabrina

    2014-09-27

    Physiological functioning of the testes is important for cardiac health besides for virilisation, physical strength, behavior and reproduction; moreover, hypogonadism has been demonstrated as a significant risk marker of increased all-cause and cardiovascular mortality. We reported two cases of long-standing hypogonadotropic hypogonadism presenting with wasting, bradycardia and heart failure. The two patients were admitted to emergency department for deep weakness, unresponsive anemia and severe bradycardia, requiring in one case the implanting of a monocameral pace-maker for treatment of heart failure. No previous cardiologic disorders were known and cardiac ischemia was ruled out in both patients. The first patient presented congenital hypogonadotropic hypogonadism combined with mild central hypothyroidism and growth hormone deficiency occurred in the peripubertal age, while the second one was diagnosed with isolated adult-onset severe central hypogonadism. Testosterone deficiency was the main feature in both patients as physical examination revealed clinical stigmata of hypogonadism and testosterone replacement induced a dramatic improvement of general condition. Genetic analysis of genes involved in hypogonadotropic hypogonadism failed to identify alterations. Long-standing hypogonadism in males can be associated with life threatening body alterations including severe bradycardia and heart failure.

  16. 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).

  17. [Neonatal herpes: Epidemiology, clinical manifestations and management. Guidelines for clinical practice from the French College of Gynecologists and Obstetricians (CNGOF)].

    Science.gov (United States)

    Renesme, L

    2017-12-01

    To describe the epidemiology of neonatal herpes and its risk factors, clinical and paraclinic manifestations, propose guidelines for a newborn at risk of neonatal herpes, describe treatment modalities, describe post-natal transmission and its prevention. Bibliographic search from Medline, Cochrane Library databases and research of international clinical practice guidelines. Neonatal herpes is rare (about 20 cases per year in France) and mainly due to HSV 1 (level of evidence LE3). The main risk factors for mother-to-child transmission are maternal primary episode of genital herpes close to delivery and serotype HSV 1 (LE3). There are three clinical forms of neonatal herpes : SEM infection for skin, eyes and mucosa, central nervous system (CNS) associated infection, and the disseminated infection. Neurological mortality and morbidity depend on the clinical form and the HSV serotype (LE3). In most of the case of neonatal herpes, the mothers have no history of genital herpes (LE3). Fever and vesicular rash may be absent at the time of diagnosis (LE3). In case of suspicion of neonatal herpes, different samples (blood and cerebrospinal fluid) for HSV PCR must be carried out to confirm the diagnosis (Professional consensus). Any newborn suspected of neonatal herpes should be treated with intravenous aciclovir (Grade A) prior to the results of HSV PCR (Professional consensus). In case of maternal genital herpes at delivery, the management of an asymptomatic newborn depends on the evaluation of the risk of transmission. In case of maternal reactivation (low risk of transmission), HSV PCR samples are taken at 24hours of life and the newborn must be follow closely until results. In the case of maternal primary episode or non-primary infection first episode (high risk of transmission), the samples are taken at 24hours of life and intravenous treatment with aciclovir is started (Professional consensus). The treatment of neonatal herpes is based on intravenous aciclovir (60mg

  18. 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...

  19. Generalized subcutaneous edema as a rare manifestation of dermatomyositis: clinical lesson from a rare feature.

    LENUS (Irish Health Repository)

    Haroon, Muhammad

    2011-04-01

    Generalized subcutaneous edema is a very rare manifestation of inflammatory myopathies. A 61-year-old woman presented with classic signs and symptoms of dermatomyositis. She was also noted to have generalized edema that was so florid that an alternative diagnosis was considered. Her disease was resistant to corticosteroids, azathioprine, and mycophenolate mofetil. Intravenous administration of immunoglobulins was started because of marked worsening of her disease-muscle weakness, generalized anasarca, and involvement of her bulbar muscles. This led to dramatic resolution of her subcutaneous edema and significant improvement of her skin and muscle disease. As the initial screen for malignancy was negative, a positron emission tomography-computed tomography scan was requested, which interestingly showed a metabolically active cervical tumor. Anasarca is an unusual manifestation of dermatomyositis. In treatment-refractory cases, it seems reasonable to consider positron emission tomography scan in excluding underlying malignant disease.

  20. 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.

  1. Psychosocial Adaptation and Depressive Manifestations in High-Risk Pregnant Women: Implications for Clinical Practice.

    Science.gov (United States)

    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.

  2. 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

  3. Genetic and Early Clinical Manifestations of Females Heterozygous for Duchenne/Becker Muscular Dystrophy.

    Science.gov (United States)

    Papa, Riccardo; Madia, Francesca; Bartolomeo, Domenico; Trucco, Federica; Pedemonte, Marina; Traverso, Monica; Broda, Paolo; Bruno, Claudio; Zara, Federico; Minetti, Carlo; Fiorillo, Chiara

    2016-02-01

    Female carriers of Duchenne muscular dystrophy (DMD), although usually asymptomatic, develop muscle weakness up to 17% of the time, and a third present cardiac abnormalities or cognitive impairment. Clinical features of DMD carriers during childhood are poorly known. We describe a cohort of pediatric DMD carriers, providing clinical, genetic, and histopathologic features, with a mean follow-up of 7 years. Fifteen females with a DMD mutation (age range 5 to 18 years) were included. Seven patients (46%) presented with clinically evident symptoms and signs such as limb girdle weakness, abnormal gait, and exercise intolerance. The other eight patients (53%) were evaluated because of an incidental finding of elevated level of creatine kinase. Creatine kinase level was elevated in all, ranging from 392 to 13,000 U/L. Calf hypertrophy was observed in eight patients (53%). No patient developed respiratory or cardiac involvement. The most frequent complication was scoliosis (46%). Four patients (29%) also presented minor learning disabilities or behavioral problems. We performed electromyography in half of patients, showing myopathic pattern in four (53%). Muscle biopsy revealed a mosaic reduction of dystrophin in nine available cases. DMD gene mutations were mostly deletions (71%), resulting in loss of reading frame in five patients (36%). The three patients who experienced the most severe disease course were affected either by a nonsense or frameshift mutation. Our analysis suggests that DMD gene mutations may be suspected in a female child with persistently elevated levels of creatine kinase. Evidence of scoliosis, calf hypertrophy, or myopathic pattern at electromyography may also be helpful, and muscle biopsy is always indicative. DMD carriers should be followed for subtle orthopedic and psychiatric complications during childhood. Copyright © 2016 Elsevier Inc. All rights reserved.

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

    Directory of Open Access Journals (Sweden)

    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.

  5. Clinical manifestation as acute coronary syndrome without electrocardiographically ischemia: a clue for aortic dissection

    Directory of Open Access Journals (Sweden)

    Hung Yi Chen

    2015-06-01

    Full Text Available Aortic dissection is a critical condition requiring immediate assessment and management. Clinical presentation is commonly associated with severe chest pain and high blood pressure. However, misdiagnosis is frequent because of various features. We presented a case of 51-year-old woman who complained of dyspnea for 3 d after she experienced back pain for one week. She was presented with severe respiration distress with impending respiration failure on arrival to our hospital. Her chest X-ray showed cardiomegaly with acute pulmonary edema. The laboratory data revealed elevated cardiac enzyme and electrocardiography demonstrated sinus tachycardia. She was hospitalized under the initial diagnosis of acute coronary syndrome. The patient remained hemodynamically stable, and experienced one episode of chest discomfort. After electrocardiography, she was found with bigeminy ventricular premature beats without ST-T change. Follow-up cardiac enzyme demonstrated progressive declined. Cardiac catheterization was performed on the third day of admission, and coronary angiography revealed large intimal flap on aortic root with bilateral coronary artery involvement. Surgical management was arranged after immediate chest computed tomography study.

  6. 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.

  7. [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

  8. 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

  9. 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

  10. 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

  11. 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)

  12. CT classification of small thalamic hemorrhages. Topographic localization and clinical manifestation

    Energy Technology Data Exchange (ETDEWEB)

    Kawahara, Nobutaka; Kaneko, Mitsuo; Tanaka, Keisei; Muraki, Masaaki; Sato, Kengo (Hamamatsu Medical Center Hospital, Shizuoka (Japan))

    1984-06-01

    The thalamus is located deep in the cerebral hemispheres, and most of its nuclei have reciprocal fiber connections with specific areas over the cerebral cortex. Localized lesions in the thalamus, therefore, can cause specific neurological deficits, depending on their locations. From this point of view, we reviewed 110 cases, admitted over the past 7 years, with thalamic hemorrhages 37 (34%) of which were small hematomas less than 2 cm in diameter. These small hematomas could be divided into 4 types depending on their locations as follows: antero-lateral type, postero-lateral type, medial type, and dorsal type. Each type had the peculiar clinical features described below: 1) Postero-lateral Type (PL type, 28 cases, 76%): The original symptom was a sudden onset of moderate to severe sensori-motor deficits in most cases. The patients were mostly alert or only slightly confused. 2) Antero-lateral Type (AL type, 4 cases, 11%): The patients of this type first presented with sensori-motor disturbance and prefrontal signs. Both were generally mild and often disappeared early. 3) Medial Type (M type, 3 cases, 8%): The main symptom at onset was either a disturbance of consciousness or dementia. 4) Dorsal Type (D type, 2 cases, 5%): One patient with a right thalamic hematoma of this type showed geographical agnosia and visuo-constructive apraxia. The other patient, with a left-sided hematoma, exhibited transient clumsiness of the right hand and mild dysphasia. In our experience, the above classification of small hematomas clearly delineated the clinical symptoms and neurological signs of the different types; therefore, the symptoms and signs in larger hematoma could be explained by a combination of those of each type.

  13. 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

  14. 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.

  15. Diagnostic and clinical characteristics of early-manifesting females with Duchenne or Becker muscular dystrophy.

    Science.gov (United States)

    Imbornoni, Lauren; Price, Elinora T; Andrews, Jennifer; Meaney, F John; Ciafaloni, Emma; Cunniff, Christopher

    2014-11-01

    Manifestations of Duchenne and Becker muscular dystrophy (DBMD) are present in up to 40% of heterozygous females, but there are few reports of females who exhibit skeletal muscle symptoms in childhood. From the Muscular Dystrophy Surveillance Tracking and Research Network, a multi-site population-based surveillance network for dystrophinopathy, nine symptomatic female heterozygotes with onset of symptoms prior to age 9 years were identified. The median age at diagnosis was 8.3 years, and the median interval from first symptoms to diagnosis was 1.35 years. Of the nine female heterozygotes, four had a positive family history, seven had intellectual disability and five had at least one mental health disorder. Mental health concerns included attention deficit hyperactivity disorder (ADHD), autism spectrum features, bipolar disorder, and depression. The frequency of intellectual and mental health problems in this group is higher than previously reported for affected males and for symptomatic females. These findings may have implications for diagnosis of early manifesting heterozygotes and for their health supervision. © 2014 Wiley Periodicals, Inc.

  16. 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.

  17. 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

  18. 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.

  19. 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.

  20. Borrelia persica infection in dogs and cats: clinical manifestations, clinicopathological findings and genetic characterization.

    Science.gov (United States)

    Baneth, Gad; Nachum-Biala, Yaarit; Halperin, Tamar; Hershko, Yizhak; Kleinerman, Gabriela; Anug, Yigal; Abdeen, Ziad; Lavy, Eran; Aroch, Itamar; Straubinger, Reinhard K

    2016-05-10

    Relapsing fever (RF) is an acute infectious disease caused by arthropod-borne spirochetes of the genus Borrelia. The disease is characterized by recurrent episodes of fever that concur with spirochetemia. The RF borrelioses include louse-borne RF caused by Borrelia recurrentis and tick-borne endemic RF transmitted by argasid soft ticks and caused by several Borrelia spp. such as B. crocidurae, B. coriaceae, B. duttoni, B. hermsii, B. hispanica and B. persica. Human infection with B. persica is transmitted by the soft tick Ornithodoros tholozani and has been reported from Iran, Israel, Egypt, India, and Central Asia. During 2003-2015, five cats and five dogs from northern, central and southern Israel were presented for veterinary care and detected with borrelia spirochetemia by blood smear microscopy. The causative infective agent in these animals was identified and characterized by PCR from blood and sequencing of parts of the flagellin (flab), 16S rRNA and glycerophosphodiester phosphodiestrase (GlpQ) genes. All animals were infected with B. persica genetically identical to the causative agent of human RF. Phylogenetic analysis indicated that DNA sequences from these pet carnivores clustered together with B. persica genotypes I and II from humans and O. tholozani ticks and distinctly from other RF Borrelia spp. The main clinical findings in cats included lethargy, anorexia, anemia in 5/5 cats and thrombocytopenia in 4/5. All dogs were lethargic and anorectic, 4/5 were febrile and anemic and 3/5 were thrombocytopenic. Three dogs were co-infected with Babesia spp. The animals were all treated with antibiotics and the survival rate of both dogs and cats was 80 %. The cat and dog that succumbed to disease died one day after the initiation of antibiotic treatment, while survival in the others was followed by the rapid disappearance of spirochetemia. This is the first report of disease due to B. persica infection in cats and the first case series in dogs. Infection was

  1. 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

  2. The contribution of CLIP2 haploinsufficiency to the clinical manifestations of the Williams-Beuren syndrome.

    Science.gov (United States)

    Vandeweyer, Geert; Van der Aa, Nathalie; Reyniers, Edwin; Kooy, R Frank

    2012-06-08

    Williams-Beuren syndrome is a rare contiguous gene syndrome, characterized by intellectual disability, facial dysmorphisms, connective-tissue abnormalities, cardiac defects, structural brain abnormalities, and transient infantile hypercalcemia. Genes lying telomeric to RFC2, including CLIP2, GTF2I and GTF2IRD1, are currently thought to be the most likely major contributors to the typical Williams syndrome cognitive profile, characterized by a better-than-expected auditory rote-memory ability, a relative sparing of language capabilities, and a severe visual-spatial constructive impairment. Atypical deletions in the region have helped to establish genotype-phenotype correlations. So far, however, hardly any deletions affecting only a single gene in the disease region have been described. We present here two healthy siblings with a pure, hemizygous deletion of CLIP2. A putative role in the cognitive and behavioral abnormalities seen in Williams-Beuren patients has been suggested for this gene on the basis of observations in a knock-out mouse model. The presented siblings did not show any of the clinical features associated with the syndrome. Cognitive testing showed an average IQ for both and no indication of the Williams syndrome cognitive profile. This shows that CLIP2 haploinsufficiency by itself does not lead to the physical or cognitive characteristics of the Williams-Beuren syndrome, nor does it lead to the Williams syndrome cognitive profile. Although contribution of CLIP2 to the phenotype cannot be excluded when it is deleted in combination with other genes, our results support the hypothesis that GTF2IRD1 and GTF2I are the main genes causing the cognitive defects associated with Williams-Beuren syndrome. Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  3. The CT manifestations and clinical analysis of traumatic cerebral infarction in children

    International Nuclear Information System (INIS)

    Zhang Tianbo; Lin Shunfa; Huang Xiaohui; Xiao Zhe; Lu Sifang

    2004-01-01

    Objective: To evaluate pathogenesis, CT manifestations, diagnosis and treatment, and prognosis of traumatic cerebral infarction in children. Methods: Axial head CT scanning was performed in 35 cases, meanwhile the treatment included vessel dilatation, anti-spasm, nerve nourishment and anti-coagulation. Results: The traumatic cerebral infarction in children was commonly located in the basal ganglia. CT scan revealed low dense lesions in all cases. 33 patients out of 35 convalesced gradually, when no anomaly was shown on CT. The rest 2 patients improved, whose lesions decreased in size on CT images. Conclusion: The major pathophysiology of traumatic cerebral infarction in children is occlusion of cerebral microcirculation and convulsion of vein after trauma. CT scan and follow-up are of great value in monitoring the damages. Early diagnosis and treatment result in good prognosis

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

    Directory of Open Access Journals (Sweden)

    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.

  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. 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.

  7. 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

  8. 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.

  9. 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.

  10. Distinct features of circulating microparticles and their relationship to clinical manifestations in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Nielsen, Christoffer T; Østergaard, Ole; Johnsen, Christina

    2011-01-01

    Characterization of the abundance, origin, and annexin V (AnxV)-binding capabilities of circulating microparticles (MPs) in SLE patients and healthy controls and to determine any associations with clinical parameters.......Characterization of the abundance, origin, and annexin V (AnxV)-binding capabilities of circulating microparticles (MPs) in SLE patients and healthy controls and to determine any associations with clinical parameters....

  11. 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.

  12. 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.

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

    Directory of Open Access Journals (Sweden)

    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.

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

    Directory of Open Access Journals (Sweden)

    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.

  15. Distinct features of circulating microparticles and their relationship to clinical manifestations in systemic lupus erythematosus

    DEFF Research Database (Denmark)

    Nielsen, Christoffer T; Østergaard, Ole; Johnsen, Christina

    2011-01-01

    Characterization of the abundance, origin, and annexin V (AnxV)-binding capabilities of circulating microparticles (MPs) in SLE patients and healthy controls and to determine any associations with clinical parameters....

  16. Nitroglycerin reverts clinical manifestations of poor peripheral perfusion in patients with circulatory shock

    NARCIS (Netherlands)

    A.A.P. Lima (Alexandre ); M.E. van Genderen (Michel); J. van Bommel (Jasper); E. Klijn (Elko); T. Jansem (Tim); J. Bakker (Jan)

    2014-01-01

    textabstractIntroduction: Recent clinical studies have shown a relationship between abnormalities in peripheral perfusion and unfavorable outcome in patients with circulatory shock. Nitroglycerin is effective in restoring alterations in microcirculatory blood flow. The aim of this study was to

  17. Clinical manifestations of nocardiosis: Study of risk factors and outcomes in a tertiary care hospital

    Directory of Open Access Journals (Sweden)

    Teena Wadhwa

    2017-01-01

    Conclusions: The study indicates that Nocardial infections are re-emerging on account of an increase in numbers of immunocompromised patients due to increased organ transplants, autoimmune diseases, malignancies, and use of immunosuppressive drugs and steroids. The diagnosis is often missed/not suspected and delayed because of the clinical resemblance to many other infections. Nocardial infection should be suspected and assessed particularly in immunocompromised patients not responding to treatment/improving clinically.

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

    Directory of Open Access Journals (Sweden)

    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.

  19. MITRAL ANNULAR CALCIFICATION IN ELDERLY PATIENTS: RELATIONSHIP WITH CLINICAL MANIFESTATIONS AND RISK FACTORS OF CARDIOVASCULAR DISEASES CAUSED BY ATHEROSCLEROSIS

    Directory of Open Access Journals (Sweden)

    G. M. Urvacheva

    2011-01-01

    Full Text Available The aim – to study the association of the mitral annular calcification (MAC with traditional risk factors and clinical manifestations of atherosclerosisin patients aged over 65 years without diabetes.Materials and methods. The prospective study included 100 patients over 65 years with MAC consistently identified among 910 ambulatory patients after transthoracic Doppler echocardiography in relation to the symptoms of cardiovascular disease. The comparison group consisted of 65 consecutively examined patients aged over 65 with no MAC.Results. When comparing risk factors in patients with and without MAC, MAC statistically significant differences was found with age (72,4 ± 5,4 and 70,2 ± 4,3 years, respectively; p = 0,006, the incidence of hypertension of moderate and severe degree (99 % and 90.8 % of patients, p = 0.012, levels of total cholesterol – TC (6,91 ± 0,92 and 6,2 ± 0,90 mmol / l, p = 0.0008 and lipoproteinlow density (3,57 ± 0,95 and 2,96 ± 0,96 mmol / l, p = 0.004 in subgroups of patients aged 65 to 70 years. In multivariate analysis remained statistically significant association of MAC only with age (p = 0,025, β = 0,173 and total cholesterol levels (p = 0,040; β = 0,160. Averages of the coefficient of atherogenicity of blood lipids, systolic and diastolic blood pressure, C-reactive protein, body mass index, waist circumference, the frequency of smoking, and risk assessment on a scale of SCORE in groups of patients with and without MAC did not differ significantly. In patients with MAC was higher incidence of myocardial infarction (p = 0.024 and more often than in patients without MAC, diagnosed coronary heart disease (p = 0.029. In the multivariate analysis adjusted for age and total cholesterol level is set significantly associated with the presence and extent of MAC with symptomatic atherosclerotic peripheral arterial disease (p < 0,00001; β = 0,410.Conclusion. In patients with MAC older than 65 years without diabetes

  20. 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.

  1. Correlation of kidney biopsy findings and clinical manifestations of primary focal and segmental glomerulosclerosis.

    Science.gov (United States)

    Taheri, Diana; Chehrei, Ali; Samanianpour, Pargol; Hassanzadeh, Amar; Sadrarhami, Shohreh; Seyrafian, Shiva

    2009-05-01

    To evaluate the correlation of clinical, laboratory, and pathological features at pre-sentation of focal segmental sclerosis (FSGS), we reviewed in a cross sectional study the pathological findings of kidney biopsies in 64 cases of primary FSGS, and correlated them with the clinical and laboratory data obtained at the time of the biopsies. The data included blood pressure, glomerular filtration rate (GFR), serum albumin, and the level of proteinuria. The mean level of serum creatinine was significantly higher in the biopsies' findings of synechiae (adhesions) in the Bowman's capsule, interstitial fibrosis, and global scars (PBowman's capsule in their biopsies.

  2. 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

  3. Clinical manifestations, treatment, and outcomes of children and adolescents with eosinophilic esophagitis

    Directory of Open Access Journals (Sweden)

    Maraci Rodrigues

    2013-03-01

    Conclusions: The classic form of EoE typically shows different symptoms according age range. A significant number of patients required more than one treatment cycle to show clinical remission. Endoscopic and histologic improvement was observed; however, eosinophilic infiltration persisted in some patients.

  4. Early clinical manifestations and eating patterns in patients with urea cycle disorders

    NARCIS (Netherlands)

    Gardeitchik, T.; Humphrey, M.; Nation, J.; Boneh, A.

    2012-01-01

    OBJECTIVES: To characterize dietary habits and eating patterns in patients with a urea cycle disorder (UCD), and to identify dietary habits that may serve as clues to lead to earlier diagnosis of these disorders. STUDY DESIGN: This was a retrospective study of clinical and dietary data from hospital

  5. Herpes Simplex Virus Infection in a University Health Population: Clinical Manifestations, Epidemiology, and Implications

    Science.gov (United States)

    Horowitz, Robert; Aierstuck, Sara; Williams, Elizabeth A.; Melby, Bernette

    2010-01-01

    Objective: The authors described clinical presentations of oral and genital herpes simplex virus (HSV) infections in a university health population and implications of these findings. Participants and Methods: Using a standardized data collection tool, 215 records of patients with symptomatic culture-positive HSV infections were reviewed. Results:…

  6. CDC73-Related Disorders: Clinical Manifestations and Case Detection in Primary Hyperparathyroidism

    NARCIS (Netherlands)

    van der Tuin, Karin; Tops, Carli M. J.; Adank, Muriel A.; Cobben, Jan-Maarten; Hamdy, Neveen A. T.; Jongmans, Marjolijn C.; Menko, Fred H.; van Nesselrooij, Bernadette P. M.; Netea-Maier, Romana T.; Oosterwijk, Jan C.; Valk, Gerlof D.; Wolffenbuttel, Bruce H. R.; Hes, Frederik J.; Morreau, Hans

    2017-01-01

    Context: Heterozygous pathogenic germline variants in CDC73 predispose to the development of primary hyperparathyroidism (pHPT) and, less frequently, ossifying fibroma of the jaw and renal and uterine tumors. Clinical information on CDC73-related disorders has so far been limited to small case

  7. Epidermolysis bullosa acquisita: clinical manifestations, microscopic findings, and surgical periodontal therapy. A case report.

    Science.gov (United States)

    Hakki, S S; Celenligil-Nazliel, H; Karaduman, A; Usubütün, A; Ertoy, D; Ayhan, A; Ruacan, S

    2001-04-01

    Epidermolysis bullosa acquisita (EBA) is an uncommon, acquired, chronic subepidermal bullous disease. This report describes a case of EBA with gingival involvement. A 43-year-old woman with EBA was referred to our clinic for periodontal therapy because of gingival tenderness and bleeding. She has been on cyclosporin A therapy for the last 2 years. Clinical findings were analyzed. Anterior gingivectomy operations were performed in 2 stages. The samples obtained during the surgery were examined using histopathologic, immunohistologic, and electronmicroscopic methods. Long-term effects of the surgical periodontal treatment on gingiva were evaluated both clinically and microscopically. The dentition displayed minimal enamel hypoplasia. Decayed, missing, and filled surfaces score was found to be elevated. Periodontal examination showed generalized diffuse gingival inflammation and gingival enlargement localized mainly to the anterior region. Nikolsky's sign was positive. However, wound healing was uneventful after the operations. Microscopic findings were similar to those obtained from the skin. Twenty-one months after the operations, Nikolsky's sign was negative and no remarkable gingival inflammation was noted. Microscopic examination revealed that the blisters were fewer in number and smaller in size. These results indicate that gingival tissues may also be involved in EBA. Uneventful wound healing after periodontal surgery in this case suggests that periodontal surgery can be performed in patients with EBA. Moreover, both our clinical and histopathologic findings imply that gingivectomy proves useful in maintaining gingival integrity in these patients. Our data may also suggest that the patients with EBA are highly likely to develop dental caries.

  8. 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.

  9. 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

  10. 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

  11. 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.

  12. 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...

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

    Directory of Open Access Journals (Sweden)

    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. Autoantibodies against complement components in systemic lupus erythematosus - role in the pathogenesis and clinical manifestations.

    Science.gov (United States)

    Hristova, M H; Stoyanova, V S

    2017-12-01

    Many complement structures and a number of additional factors, i.e. autoantibodies, receptors, hormones and cytokines, are implicated in the complex pathogenesis of systemic lupus erythematosus. Genetic defects in the complement as well as functional deficiency due to antibodies against its components lead to different pathological conditions, usually clinically presented. Among them hypocomplementemic urticarial vasculitis, different types of glomerulonephritis as dense deposit disease, IgA nephropathy, atypical haemolytic uremic syndrome and lupus nephritis are very common. These antibodies cause conformational changes leading to pathological activation or inhibition of complement with organ damage and/or limited capacity of the immune system to clear immune complexes and apoptotic debris. Finally, we summarize the role of complement antibodies in the pathogenesis of systemic lupus erythematosus and discuss the mechanism of some related clinical conditions such as infections, thyroiditis, thrombosis, acquired von Willebrand disease, etc.

  15. Renal manifestations of chronic lead poisoning: clinical, biological, and histological study

    Energy Technology Data Exchange (ETDEWEB)

    Devulder, B; Martin, J C; Mathot, J; Dequiedt, P; Durocher, A; Vanhille, P; Tacquet, A

    1974-01-01

    Clinical observation of a metal worker who showed, after exposure to lead, biological disturbances typical of lead poisoning, associated with very discrete azotaemia. In-depth nephrological exploration by electronic microscope showed the existence of intra-cytoplasmic inclusions, intra-nuclear corpuscles and mitochondrial changes, without significant impairment of renal function. This case brings the authors to analyse the more recently discovered clinical, biological and histological aspects of the kidneys in chronic lead poisoning and to draw conclusions concerning prognosis and medico-legal aspects. As regards therapy, the use of chelating agents, on account of the sudden liberation of the toxic metal it causes, seems liable to aggravate kidney and other damage, and should therefore be administered under strict medical supervision.

  16. Testicular hemorrhage, necrosis, and vasculopathy: likely manifestations of intermittent torsion that clinically mimic a neoplasm.

    Science.gov (United States)

    Kao, Chia-Sui; Zhang, Chen; Ulbright, Thomas M

    2014-01-01

    We report 30 cases of testicular hemorrhage and/or necrosis with associated vascular damage that caused clinical concern for a neoplasm and that raised the question of a vasculitis syndrome on pathologic examination. The patients were 12 to 66 years old (median, 33 y) and presented with pain (n=15), mass (n=12), or both (n=2); 1 case had no available clinical information. Ultrasonographic interpretations included a neoplasm in the differential diagnoses in 14 of 18 cases in which this information was available, and most (n=24) had orchiectomy because of this possibility. Only 4 were clinically suspected to represent testicular infarction. Circumscribed, hemorrhagic lesions occurred in 10 cases, less demarcated hemorrhagic foci in 5, and discrete nodules or ill-defined foci of varying color and consistency in the remainder. No clear testicular lesion was described in 2, with 1 of these having a "dusky" appearance. On microscopic examination all but 1 case showed damaged blood vessels (vasculopathy), with either associated hemorrhage/hematoma (n=24) and/or areas of parenchymal necrosis (n=21). One case showed only segmental tubular atrophy with interstitial inflammation and vasculopathy; no infarct or hemorrhage was identified. A variety of vascular changes was identified, including prominent intimal thickening in arteries (n=22) and fibrinoid change in both arteries (n=5) and vessels of indeterminate type (n=8). Medial fibrosis was present in veins (n=12) and vessels of indeterminate type (n=4), whereas thrombi (remote, recanalized, and/or recent) occurred in arteries (n =7), veins (n=9), and vessels of indeterminate type (n=11). Dilated, blood-filled vessels were present in the testis and/or paratestis in 15 cases. In addition, 7 cases showed arteriolar hyalinization, and 19 had inflammation of blood vessels. The latter was lymphohistiocytic and mostly light but occasionally prominent (n=5). Interstitial inflammation was seen adjacent to damaged testicular

  17. The association between uric acid levels and different clinical manifestations of coronary artery disease

    DEFF Research Database (Denmark)

    Larsen, Trine R; Gerke, Oke; Diederichsen, Axel C P

    2018-01-01

    AIMS: Uric acid (UA) has been associated with the presence and severity of coronary artery disease. To further assess the role of UA role in coronary artery disease, we investigated UA levels in both healthy asymptomatic middle-aged individuals and in different subgroups of hospitalized patients...

  18. Post-traumatic tricuspid valve insufficiency. 2 cases of delayed clinical manifestation.

    OpenAIRE

    Bortolotti, U; Scioti, G; Milano, A; Guglielmi, C; Benedetti, M; Tartarini, G; Balbarini, A

    1997-01-01

    We present 2 cases of tricuspid insufficiency following blunt chest trauma: 1 was diagnosed 5 months after the trauma and the other, 20 years after the trauma. In both patients, the tricuspid valve was replaced with a porcine bioprosthesis, because valve repair was not considered feasible. These cases emphasize the variability of clinical presentation of post-traumatic tricuspid valve insufficiency and indicate the need for close follow-up of patients after major thoracic trauma.

  19. Retrospective analysis of patients clinical manifestations before and after pheochromocytoma surgery.

    Science.gov (United States)

    Balazovjech, I; Davidova, H; Breza, J

    2004-01-01

    A retrospective analysis of presurgical clinical picture and blood pressures of 34 patients with histologically verified pheochromocytoma. Assessment of clinical state, blood pressure and prognosis in the course of patients control hospitalizations from 2001 to 2002. The study was designed as a synoptic one, based on a retrospective analysis of 34 patients records with histologically verified pheochromocytoma (26 women and 8 men). Our assessments of clinical symptomatology, maximum paroxysmal hypertension values, average blood pressure values in patients with persistent arterial hypertension, arterial hypertension grade and circadian index were based on patients records. Patients epinephrectomies were followed during their control hospitalizations to assess their clinical state. Their blood pressures were evaluated by means of their circadian monitoring. From the 34 patients, 21 were diagnosed with solitary pheochromocytomas. The circadian index persistence analysis prior to the surgery was associated with circadian blood pressure monitoring in 21 patients. It was lost in 57% of patients. During their control hospitalization as many as 82% of patients preserved their circadian blood pressure variability with a more than 10% decrease in the night time, 5 patients did not preserve their circadian blood pressure variability. Seven from the original 34 patients died: Three of them died from their primary disease, one 63-year old man died from shock following tumour extirpation. The death of other 3 patients was not associated with their primary disease. Long-lasting survival of patients with pheochromocytoma after surgical treatment--except for those with malignant disease--was demonstrated. Although our assessment of the resulting treatment effects was positive, a long-term follow-up is inevitable because of a difficult pathologic-anatomical verification of the malignant nature of the disease as well as of the risk of tumour relapse assessment. (Tab. 1, Fig. 5, Ref 36.)

  20. 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

  1. 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.

  2. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

    OpenAIRE

    Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

    2001-01-01

    A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of i...

  3. Neonatal severe intractable diarrhoea as the presenting manifestation of an unclassified congenital disorder of glycosylation (CDG-x)

    Science.gov (United States)

    Mention, K; Michaud, L; Dobbelaere, D; Guimber, D; Gottrand, F; Turck, D

    2001-01-01

    A case of severe and protracted diarrhoea is reported, which started in the neonatal period and progressively associated with neurological impairment, dysmorphy, hepatosplenomegaly, and hepatic insufficiency, from which the patient died at 2 years of age. Isoelectric focusing of serum transferrin showed a congenital disorder of glycosylation type I pattern but the basic defect could not be identified. This observation shows that congenital disorder of glycosylation is a cause of intractable diarrhoea in neonates.

 PMID:11668168

  4. Primary hyperoxaluria type 1: clinical manifestations in infancy and prenatal diagnosis

    DEFF Research Database (Denmark)

    Illum, N; Lavard, L; Danpure, C J

    1992-01-01

    biopsy demonstrated complete absence of alanine: glyoxylate aminotransferase catalytic activity and immunoreactive protein compatible with a diagnosis of primary hyperoxaluria type 1. He died at the age of 11 months, just before liver transplantation was made possible. Fetal liver biopsy in the mother......A 9-month-old Pakistani boy of consanguineous parents presented with uraemia preceded by pyuria from 5 weeks of age. He had no history of renal calculi or macroscopic haematuria. Renal biopsy revealed severe calcium oxalate deposition in the tubuli and fibrosis of the interstitial tissue. Liver......'s subsequent pregnancy showed normal enzymatic activity. Early detection and early replacement of the missing enzyme by liver transplantation are considered to be crucial for the survival of severely affected infants with the acute neonatal form of primary hyperoxaluria type 1. Persistent pyuria could...

  5. Temporal bone trauma: correlative study between CT findings and clinical manifestations

    International Nuclear Information System (INIS)

    Kim, Jung Hee; Kim, Hyung Jin; Kim, Jae Hyoung

    1994-01-01

    To assess how accurately computed tomography (CT) can demonstrate the abnormal findings which are believed to cause the clinical signs and symptoms of hearing loss (HL), vertigo and facial paralysis (FP) in patients with temporal bone trauma. The authors studied CT scans of 39 ears in 35 patients with temporal bone trauma. CT scans were performed with 1-1.5 mm slice thickness and table incrementation. Both axial and coronal scans were obtained in 32 patients and in three patients only axial scans were obtained. We analyzed CT with special reference to the structural abnormalities of the external auditory canal, middle ear cavity, bony labyrinth, and facial nerve canal, and correlated these findings with the actual clinical signs and symptoms. As to hearing loss, we evaluated 32 ears in which pure tone audiometry or brainstem evoked response audiometry had been performed. With respect to the specific types of HL, CT accurately showed the abnormalities in 84% (16/19) in conductive HL, 100% (2/2) in sensorineural HL, and 25% (2/8) for mixed HL. When we categorized HL simply as conductive and sensorineural, assuming that mixed be the result of combined conductive and sensorineural HL, CT demonstrated the abnormalities in 89% (24/27) for conductive HL and 50% (5/10) for sensorineural HL. Concerning vertigo and FP, CT demonstrated abnormalities in 67%(4/6), and 29% (4/14), respectively. Except for conductive HL, CT seems to have a variable degree of limitation for the demonstration of the structural abnormalities resulting sensorineural HL, vertigo or facial paralysis. It is imperative to correlate the CT findings with the signs and symptoms in those clinical settings

  6. Temporal bone trauma: correlative study between CT findings and clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Jung Hee; Kim, Hyung Jin; Kim, Jae Hyoung [College of Medicine, Gyeongsang National University, Jinju (Korea, Republic of)

    1994-11-15

    To assess how accurately computed tomography (CT) can demonstrate the abnormal findings which are believed to cause the clinical signs and symptoms of hearing loss (HL), vertigo and facial paralysis (FP) in patients with temporal bone trauma. The authors studied CT scans of 39 ears in 35 patients with temporal bone trauma. CT scans were performed with 1-1.5 mm slice thickness and table incrementation. Both axial and coronal scans were obtained in 32 patients and in three patients only axial scans were obtained. We analyzed CT with special reference to the structural abnormalities of the external auditory canal, middle ear cavity, bony labyrinth, and facial nerve canal, and correlated these findings with the actual clinical signs and symptoms. As to hearing loss, we evaluated 32 ears in which pure tone audiometry or brainstem evoked response audiometry had been performed. With respect to the specific types of HL, CT accurately showed the abnormalities in 84% (16/19) in conductive HL, 100% (2/2) in sensorineural HL, and 25% (2/8) for mixed HL. When we categorized HL simply as conductive and sensorineural, assuming that mixed be the result of combined conductive and sensorineural HL, CT demonstrated the abnormalities in 89% (24/27) for conductive HL and 50% (5/10) for sensorineural HL. Concerning vertigo and FP, CT demonstrated abnormalities in 67%(4/6), and 29% (4/14), respectively. Except for conductive HL, CT seems to have a variable degree of limitation for the demonstration of the structural abnormalities resulting sensorineural HL, vertigo or facial paralysis. It is imperative to correlate the CT findings with the signs and symptoms in those clinical settings.

  7. Long-term pruritus as the initial and sole clinical manifestation of occult Hodgkin's disease.

    Science.gov (United States)

    Omidvari, Shapour H; Khojasteh, Habib Noorani; Mohammadianpanah, Mohammad; Monabati, Ahmad; Mosalaei, Ahmad; Ahmadloo, Niloofar

    2004-06-01

    Pruritus or itch is a frequent symptom of patients with Hodgkin's disease. It often occurs during the clinical course of the disease and rarely may precede the diagnosis of underlying disease. In this report, we present a 16-year-old patient who had history of generalized pruritus without any skin rash for 4 years before the diagnosis of Hodgkin's disease. Within that period, she had received symptom-oriented medications, with no significant effect. After the first cycle of chemotherapy, her pruritus resolved completely. This case suggests that long-term generalized pruritus may be indicative of a significant underlying problem like Hodgkin's disease.

  8. VGKC-complex/LGI1-antibody encephalitis: clinical manifestations and response to immunotherapy.

    Science.gov (United States)

    Shin, Yong-Won; Lee, Soon-Tae; Shin, Jung-Won; Moon, Jangsup; Lim, Jung-Ah; Byun, Jung-Ick; Kim, Tae-Joon; Lee, Keon-Joo; Kim, Young-Su; Park, Kyung-Il; Jung, Keun-Hwa; Lee, Sang Kun; Chu, Kon

    2013-12-15

    Leucine-rich glioma inactivated 1 (LGI1) was recently identified as a target protein in autoimmune synaptic encephalitis, a rare condition associated with autoantibodies against structures in the neuronal synapse. Studies dealing with LGI1 are small in number and the various outcomes of different therapeutic regimens are not well studied. Here, we analyzed clinical characteristics of 14 patients with LGI1 antibodies, and outcomes according to therapeutic strategies. Most patients exhibited abnormal brain positron emission tomography and that patients treated with steroids alone were more likely to relapse and had less favorable outcomes than those treated with steroids and intravenous immunoglobulins. © 2013.

  9. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik [Kyungpook Natioanl University College of Medicine, Daegu (Korea, Republic of); Kim, Ok Hwoa [Dongkang general Hospital, Ulsan (Korea, Republic of)

    1993-07-15

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections.

  10. Hypereosinophilic syndrome: Clinical, laboratory, and imaging manifestations in patients with hepatic involvement

    International Nuclear Information System (INIS)

    Kim, Gi Beom; Lee, Jong Min; Sung, Yeong Soon; Kang, Duk Sik; Kim, Ok Hwoa

    1993-01-01

    The hypereosinophilic syndrome (HES) commonly involves liver and spleen but only a few literature has reported the imaging features. In this article, we present the imaging features of the liver and spleen in HES patients together with clinical and laboratory features. This study included 5 HES patients with hepatic involvement. Extensive laboratory tests including multiple hematologic, serologic, parasitological, and immunologic examinations were performed. Imaging studies included CT, ultrasound (US)of upper abdomen and hepatosplenic scintigraphy. All patients were periodically examined by laboratory and imaging studies for 4 to 24 months. The common clinical presentations were weakness, mild fever, and dry cough. All patients revealed leukocytosis with eosinophilia of 40 to 80% and benign eosinophilic hyperplasia of the bone marrow. The percutaneous biopsy of the hepatic focal lesions performed in 2 patients showed numerous benigin eosinophilic infiltrates and one of them revealed combined calibration necrosis of hepatocytes. All cases revealed hepatomegaly with multiple focal lesions on at least on of CT, US, or scintigraphy. These findings completely disappeared in 2 to 6 months following medication of corticosteroid or antihistamines. The HES involved the liver and CT, US, or scintigraphic studies showed hepatic multifocal lesions with hepatomegaly. Differential diagnosis of these findings should include metastatic disease, lymphoma, leukemia, candidiasis or other opportunistic infections

  11. Correlations between computed tomography findings and clinical manifestations of Streptococcus pneumoniae pneumonia

    International Nuclear Information System (INIS)

    Yagihashi, Kunihiro; Kurihara, Yasuyuki; Fujikawa, Atsuko; Matsuoka, Shin; Nakajima, Yasuo

    2011-01-01

    The aim of this study was to characterize the imaging features and compare computed tomography (CT) findings with clinical features of patients with Streptococcus pneumoniae pneumonia. We retrospectively reviewed 75 patients (44 men, 31 women; mean age 67 years) diagnosed with S. pneumoniae pneumonia who underwent chest CT scanning at our institution between January 2007 and August 2008. Diagnoses were based on detection of the S. pneumoniae antigen in urine. Chest CT scans revealed abnormalities in all patients. The predominant opacity patterns were an airspace pneumonia pattern (48%) and a bronchopneumonia pattern (48%), followed by an interstitial pneumonia pattern (4%). Consolidation was observed most frequently (84%) followed by ground glass opacity (82.7%), bronchial wall thickening (61.3%), and centrilobular nodules (49.3%). Airway dilatation (21.6%), pleural effusion (33.3%), lymphadenopathy (34.8%), and pulmonary emphysema (21.3%) were also observed. Pulmonary emphysema was significantly less frequent in patients with the bronchopneumonia pattern than in those without (p=0.007). The clinical features and CT findings did not differ significantly. CT image analysis showed that patients with S. pneumoniae pneumonia exhibited the bronchopneumonia and airspace pneumonia patterns with equal frequency. Bronchopneumonia pattern was less common in patients with preexisting emphysema. (author)

  12. Correlation of kidney biopsy findings and clinical manifestations of primary focal and segmental glomerulosclerosis

    International Nuclear Information System (INIS)

    Taheri, Diana; Chehrei Ali; Samanianpour, Pargol; Hassanzadeh, Amar; Sadrarhami, Shohreh; Shiva, Seyrafian

    2009-01-01

    To evaluate the correlation of clinical, laboratory, and pathological features at presentation of focal segmental sclerosis (FSGS), we reviewed in a cross sectional study the pathological findings of kidney biopsies in 64 cases of primary FSGS, and correlated them with the clinical and laboratory data obtained at the time of the biopsies. The data included blood pressure, glomerular filtration rate (GFR), serum albumin, and the level of proteinuria. The mean level of serum creatinine was significantly higher in the biopsies' findings of synechiae (adhesions) in the Bowman's capsule, interstitial fibrosis, and global scars (P< 0.05), and mean level of GFR was significantly lower with the presence of interstitial fibrosis (P< 0.05). Furthermore, there was a positive correlation between the level of serum creatinine and global sclerosis (r= 2.21, P= 0.04), and a negative correlation between the level of GFR and global sclerosis(r= 2.01, P= 0.02). All the patients with renal insufficiency had interstitial fibrosis in their biopsies in comparison of only the 24 patients (48%) of the group without renal insufficiency (P< 0.05). There was no significant difference between patients with and without hypertension and nephritic-ranged proteinuria. We conclude that we found a correlation of renal insufficiency in primary FSGS patients with interstitial fibrosis, global scars and the synechiae of Bowman's capsule in their biopsies. (author)

  13. Correlation of kidney biopsy findings and clinical manifestations of primary focal and segmental glomerulosclerosis

    Directory of Open Access Journals (Sweden)

    Taheri Diana

    2009-01-01

    Full Text Available To evaluate the correlation of clinical, laboratory, and pathological features at pre-sentation of focal segmental sclerosis (FSGS, we reviewed in a cross sectional study the patholo-gical findings of kidney biopsies in 64 cases of primary FSGS, and correlated them with the clinical and laboratory data obtained at the time of the biopsies. The data included blood pressure, glome-rular filtration rate (GFR, serum albumin, and the level of proteinuria. The mean level of serum crea-tinine was significantly higher in the biopsies′ findings of synechiae (adhesions in the Bowman′s capsule, interstitial fibrosis, and global scars (P< 0.05, and mean level of GFR was significantly lower with the presence of interstitial fibrosis (P< 0.05. Furthermore, there was a positive correlation between the level of serum creatinine and global sclerosis (r= 2.21, P= 0.04, and a negative correlation between the level of GFR and global sclerosis(r= 2.01, P= 0.02. All the patients with renal insufficiency had interstitial fibrosis in their biopsies in comparison of only the 24 patients (48% of the group without renal insufficiency (P< 0.05. There was no significant difference bet-ween patients with and without hypertension and nephritic-ranged proteinuria. We conclude that we found a correlation of renal insufficiency in primary FSGS patients with interstitial fibrosis, global scars and the synechiae of Bowman′s capsule in their biopsies.

  14. 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.

  15. 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.

  16. 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.

  17. Hypofibrinolytic State in Subjects with Type 2 Diabetes Mellitus Aggravated by the Metabolic Syndrome before Clinical Manifestations of Atherothrombotic Disease

    Directory of Open Access Journals (Sweden)

    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. 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.

  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. 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

  1. 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.

  2. Triple manifestation of extramedullary plasmacytoma in the upper airway: an unusual clinical entity.

    LENUS (Irish Health Repository)

    Morariu, I

    2012-02-01

    OBJECTIVE: We report an extremely rare case of extramedullary plasmacytoma. METHOD: Case report and review of the English-literature concerning extramedullary plasmacytoma and multiple myeloma. RESULT: We present an unusual case of multiple extramedullary plasmacytomas, which, over a protracted course of 30 years, presented on different occasions at three separate sites in the head and neck. The patient was managed surgically on all occasions, and was disease-free at the time of writing. CONCLUSION: Following review of the literature, we believe this to be the only case with this extremely unusual presentation. This case is noteworthy, not only because of the rarity of extramedullary plasmacytoma, but also because it highlights a number of important clinical issues. The diagnosis and management of extramedullary plasmacytoma require close cooperation between multiple disciplines.

  3. Clinical manifestations and treatment response of steroid in pediatric Hashimoto encephalopathy.

    Science.gov (United States)

    Yu, Hee Joon; Lee, Jeehun; Seo, Dae Won; Lee, Munhyang

    2014-07-01

    Hashimoto encephalopathy is a steroid-responsive encephalopathy associated with elevated titers of antithyroid antibodies. Clinical symptoms are characterized by behavioral and cognitive changes, speech disturbance, seizures, myoclonus, psychosis, hallucination, involuntary movements, cerebellar signs, and coma. The standard treatment is the use of corticosteroids along with the treatment of any concurrent dysthyroidism. Other options are immunoglobulins and plasmapheresis. We described symptoms and outcomes on 3 teenage girls with Hashimoto encephalopathy. Presenting symptoms were seizure or altered mental status. One patient took levothyroxine due to hypothyroidism before presentation of Hashimoto encephalopathy. After confirmation of elevated antithyroid antibodies, all patients were treated with steroids. One patient needed plasmapheresis because of the lack of response to steroids and immunoglobulins. Hashimoto encephalopathy should be considered in any patient presenting with acute or subacute unexplained encephalopathy and seizures. Even though the use of steroids is the first line of treatment, plasmapheresis can rescue steroid-resistant patients. © The Author(s) 2013.

  4. Analysis of angiographic findings in arteriovenous malformations(AVM) of brain according to presenting clinical manifestations

    International Nuclear Information System (INIS)

    Kim, Jun Hyoung; Kim, Jae Kyun; Suh, Dae Chul and others

    1998-01-01

    To evaluate the different angio-architectures of brain arteriovenous malformations(AVMs) according to the presence of non-hemorrhagic symptoms or intracerebral (ICH) and/or intraventricular hemorrhage (IVH). The results of complete cerebral angiography obtained in 215 patients with AVM between 1989 and 1994 were retrospectively reviewed. The M:F ratio was 136:78 and their mean age was 29 (ranged 4-66) years. On the base of clinical presentation, CT and/or MR images, they were divided into hemorrhagic and non-hemorrhagic groups. Angiograms were analyzed by two radiologists for the size and location of nidus;the number of feeding arteries and the extent of aneurysm, stenosis, dural supply, and angiomatous change;the number of draining veins and the extent of deep or superficial drainage, stenosis, ectasia, kinking, and stasis. The standard chi-square test was used for statistical analysis. Hemorrhage was noted in 140 patients (65%), and no hemorrhage in 75 (35%). Hemorrhage was more common in AVM with deep-seated and callosal locations, a nidus of less than 2cm, single feeder and single venous drainage, and deep venous drainage only (p<0.05-0.001). Non-hemorrhagic presentations were more common in AVM with cortical and subcortical location, a nidus of more than 5cm, angiomatous change, dural supply, both superficial and deep venous drainage, kinking, and stasis(p<0.05-0.001). The angio-architechture of AVM with hemorrhage correlated with clinical symptomatic presentation. Analysis of the patterns of angioarchitectures useful for prognosis and in deciding the direction of treatment. =20

  5. Diagnosis of human fascioliasis in Arusha region, northern Tanzania by microscopy and clinical manifestations in patients.

    Science.gov (United States)

    Lukambagire, Abdul-Hamid Settenda; Mchaile, Deborah N; Nyindo, Mramba

    2015-12-23

    Human fascioliasis (HF) is a zoonotic disease that has been identified in many countries worldwide. This report concerns the identification and clinical management of cases of human fascioliasis in the suburbs of Arusha city, northern Tanzania in 2013. Fascioliasis is included among the WHO's Neglected Tropical Diseases as a plant transmitted trematode infection. Human fascioliasis has not been described before in the East Africa region, including Tanzania. Patients presenting at a primary healthcare centre in Arusha Region, northern Tanzania provided fresh stool samples for routine ova and parasite screening (saline and iodine preparations). Subsequent stool samples were preserved in 5 % formalin in saline and subjected to ether sedimentation for examination. Out of 1460 patients, 305 (21 %) were diagnosed positive for fascioliasis based on the demonstration of brownish, oval eggs with inconspicuous opercula in stool. Two distinct egg sizes were identified; large 170-212.5 by 115-150 μm (mean 194.5 by 130.5 μm) and smaller eggs 120-150 by 87.5 - 112.5 μm (mean 138.8 by 101 μm). Clinically, patients presented with fever (39 - 40 °C) and abdominal pain. Some patients had pruritis around the mouth and their lips were swollen. 3 patients were treated and cured with single dose Triclabendazole. The remaining 302 patients were treated with Nitazoxanide and 122 (40 %) were cleared of infection with a single course. Snails of the genus Lymnaea were found in the surroundings. This report serves to remind medical professionals in East Africa that HF is a probable differential diagnosis in patients presenting with similar symptoms. It is possible to diagnose fascioliasis by light microscopy although specific antigen tests are required for confirmation. Human fascioliasis however, has not been described or reported in Tanzania before and begs further investigation.

  6. Autosomal recessive primary microcephaly (MCPH): clinical manifestations, genetic heterogeneity and mutation continuum

    Science.gov (United States)

    2011-01-01

    Autosomal Recessive Primary Microcephaly (MCPH) is a rare disorder of neurogenic mitosis characterized by reduced head circumference at birth with variable degree of mental retardation. In MCPH patients, brain size reduced to almost one-third of its original volume due to reduced number of generated cerebral cortical neurons during embryonic neurogensis. So far, seven genetic loci (MCPH1-7) for this condition have been mapped with seven corresponding genes (MCPH1, WDR62, CDK5RAP2, CEP152, ASPM, CENPJ, and STIL) identified from different world populations. Contribution of ASPM and WDR62 gene mutations in MCPH World wide is more than 50%. By and large, primary microcephaly patients are phenotypically indistinguishable, however, recent studies in patients with mutations in MCPH1, WDR62 and ASPM genes showed a broader clinical and/or cellular phenotype. It has been proposed that mutations in MCPH genes can cause the disease phenotype by disturbing: 1) orientation of mitotic spindles, 2) chromosome condensation mechanism during embryonic neurogenesis, 3) DNA damage-response signaling, 4) transcriptional regulations and microtubule dynamics, 5) certain unknown centrosomal mechanisms that control the number of neurons generated by neural precursor cells. Recent discoveries of mammalian models for MCPH have open up horizons for researchers to add more knowledge regarding the etiology and pathophysiology of MCPH. High incidence of MCPH in Pakistani population reflects the most probable involvement of consanguinity. Genetic counseling and clinical management through carrier detection/prenatal diagnosis in MCPH families can help reducing the incidence of this autosomal recessive disorder. PMID:21668957

  7. 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.

  8. Molecular and clinical characterization of cardio-facio-cutaneous (CFC) syndrome: overlapping clinical manifestations with Costello syndrome

    NARCIS (Netherlands)

    Narumi, Yoko; Aoki, Yoko; Niihori, Tetsuya; Neri, Giovanni; Cave, Helene; Verloes, Alain; Nava, Caroline; Kavamura, Maria Ines; Okamoto, Nobuhiko; Kurosawa, Kenji; Hennekam, Raoul C. M.; Wilson, Louise C.; Gillessen-Kaesbach, Gabriele; Wieczorek, Dagmar; Lapunzina, Pablo; Ohashi, Hirofumi; Makita, Yoshio; Kondo, Ikuko; Tsuchiya, Shigeru; Ito, Etsuro; Sameshima, Kiyoko; Kato, Kumi; Kure, Shigeo; Matsubara, Yokhi

    2007-01-01

    Cardio-facio-cutaneous (CFC) syndrome is a multiple congenital anomaly/mental retardation syndrome characterized by heart defects, a distinctive facial appearance, ectodermal abnormalities and mental retardation. Clinically, it overlaps with both Noonan syndrome and Costello syndrome, which are

  9. 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.

  10. Clinical manifestation and pathophysiology of Crimean-Congo hemorrhagic fever on human

    Directory of Open Access Journals (Sweden)

    Siavash Hamzehpour

    2017-10-01

    Full Text Available The Crimean-Congo hemorrhagic fever is a febrile and acute viral disease, and it is sporadic and epidemic in human societies, although it is special for animals (1. The disease was first identified in the Crimean Peninsula in the years 1945-1944 and was called the Crimean Hemorrhagic Fever. In 1956, the epidemic of the disease in the Congo also occurred, and due to the similarity of the disease agent, the combination of names of these two regions was used for naming the disease (2. The cause of this disease is a single-stranded viraemia virus from the genus Neurovirus and the Bunyaviridae family (3. One of the ways to transmit the disease is tick bites, and the hyaloma ticks are the most important constituent of the Crimean-Congo fever vein and the reservoir. In addition to transmitting the disease to vertebrates, due to a vertical and horizontal transmission, they transmit it to the next generation (4. Also, human contact with meat, blood and contaminated secretions of livestock in a livestock eradication period causes the transmission of the disease (5. Human to human transmission, which is more often seen as a hospital infection, is also a means of transmitting the disease (6. The incubation period after a tick bite is 1 to 3 days and a maximum of 9 days, and is slightly longer after contact with contaminated blood or tissue about 5-6 days, and finally 14 days (7. In the early stages of the disease, symptoms are sudden which include severe headaches, fever, chills, muscle pain, especially the back and leg muscles, neck stiffness, dizziness, reddening of the eyes, fear of light, nausea, vomiting and diarrhea. Then, a severe generalized muscle pain appears, mostly at the back and hamstring, and the patient complains of back pain and epigastric pain (8. In the examination of patients, facial flushing and chest thigtness, hyperemia of throat mucusand petechialsare common symptoms which draw attention. Hemorrhagic phenomena include melena

  11. Clinical and Haematological Manifestations of Typhoid Fever in Children in Eastern Turkey.

    Science.gov (United States)

    Akbayram, S; Parlak, M; Dogan, M; Karasin, G; Akbayram, H T; Karaman, K

    2016-01-12

    Typhoid fever can involve various organs, leading to a wide range of presentations: from uncomplicated to complicated typhoid fever. The haematological changes are common in typhoid fever and include anaemia, leucopaenia, thrombocytopaenia and bleeding diathesis. This study was undertaken in order to determine the clinical and haematological presentation of typhoid fever in children. In this study, records of children and adolescents with typhoid fever aged under or equal to 16 years, admitted to Yuzuncu Yil University Hospital between 2010 and 2014, were analysed retrospectively. The cases (56%) were admitted to our hospital in July and October. Major symptoms of patients were abdominal pain (24%), arthralgia (21%) and fever (11%). In our study, decreased mean platelet volume (31%), eosinopaenia 20%), abnormal platelet count (19%), anaemia (16%), leucocytosis (16%) and eosinophilia (12%) were the most common haematological findings in the children. Typhoid fever is predominant in children at school age with a slight male predominance. Decreased mean platelet volume and abdominal pain might be useful as early diagnostic clues.

  12. Clinical manifestations and computed tomography of the pseudovascular form of metastatic brain tumor

    International Nuclear Information System (INIS)

    Kurimoto, Tadahisa; Mizuno, Makoto; Tani, Sadayasu; Miki, Kazuhito; Kawamura, Yasuo; Matsumura, Hiroshi

    1982-01-01

    Forty-two cases of metastatic brain tumor were subdivided into 3 groups (acute, subacute, and chronic) from their mode of the onset of symptoms and signs. The clinical symptoms and signs and the computed tomogram were all analyzed and compared with each other. The acute form was found in 14 cases (33%), of which 7% (3 cases) were seizures and 26% (11 cases) were acute neurological deficits, including hemorrhages from tumors (3 cases, 7%). There were no significant differences in their age, sex, or primary lesions. The characteristic course of the acute form, other than seizure and hemorrhage, involved acutely and progressively developing neurological symptoms, symptoms and signs of increased intracranial pressure were rare. In computed tomogram, the solitary metastasis in the parietal and occipital lesions was much more in the acute form than in other forms, and the perifocal low-density area showed a tendency to be larger than the other forms. In these cases, acute symptoms and signs appeared to occur easily when perifocal edema was joined in the above locations. The pathogenesis of acute neurological symptoms and signs other than seizure and hemorrhage is unclear. We suggest that the location of a tumor and peritumoral edema be important factors in causing acute symptoms and signs, but, in addition to that, abrupt hemodynamic changes in the peritumoral edema may also be of importance. (J.P.N.)

  13. Molecular cytogenetic analysis and clinical manifestations of a case with de novo mosaic ring chromosome 7

    Directory of Open Access Journals (Sweden)

    Fang Jye-Siung

    2011-02-01

    Full Text Available Abstract Aim Clinical and molecular cytogenetic investigations of a newborn girl exhibiting facial dysmorphism with developmental delay. Methods Phenotypic evaluation was first applied to examine the proband's developmental status. Computed tomography and colour transcranial Doppler were used then to investigate her brain structure and function. Subsequently, chromosomal abnormalities were examined by karyotyping and fluorescent in situ hybridization was performed to investigate size of fragments lost at the two distal ends of the ring chromosome 7. In addition, multicolour banding was applied to rule out structural rearrangement occurs in between the ring chromosome 7. Results The proband was born with mosaic supernumerary ring chromosome 7, without a normal karyotype detected in the peripheral blood lymphocytes. The distal arm of chromosome 7p (at least 255 kb from the telomere was part of an extra ring chromosome 7. In addition, the distal arm of 7q, at least 8 kb from the telomere, was missing. There was no other chromosomal rearrangement detected by multicolour banding. Interpretation This is the 19th reported case of complete ring chromosome 7 mosaicism and the first survived case with mosaic supernumerary ring 7 without a normal karyotype detected in the peripheral lymphocytes.

  14. Coexistence of chronic lymphocytic thyroiditis with papillary thyroid carcinoma: clinical manifestation and prognostic outcome.

    Science.gov (United States)

    Jeong, Jun Soo; Kim, Hyun Ki; Lee, Cho-Rok; Park, Seulkee; Park, Jae Hyun; Kang, Sang-Wook; Jeong, Jong Ju; Nam, Kee-Hyun; Chung, Woong Youn; Park, Cheong Soo

    2012-08-01

    The study aimed to identify the clinical characteristics of coexisting chronic lymphocytic thyroiditis (CLT) in papillary thyroid carcinoma (PTC) and to evaluate the influence on prognosis. A total of 1,357 patients who underwent thyroid surgery for PTC were included. The clinicopathological characteristics were identified. Patients who underwent total thyroidectomy (n = 597) were studied to evaluate the influence of coexistent CLT on prognosis. Among the total 1,357 patients, 359 (26.5%) had coexistent CLT. In the CLT group, the prevalence of females was higher than in the control group without CLT (P CLT were smaller than without CLT (P = 0.040, P = 0.047, respectively). Extrathyroidal extension in the patients with CLT was significantly lower than without CLT (P = 0.016). Among the subset of 597 patients, disease-free survival rate in the patients with CLT was significantly higher than without CLT (P = 0.042). However, the multivariate analysis did not reveal a negative association between CLT coexistence and recurrence. Patients with CLT display a greater female preponderance, smaller size, younger and lower extrathyroidal extension. CLT is not a significant independent negative predictive factor for recurrence, although presence of CLT indicates a reduced risk of recurrence.

  15. Anisakiasis presenting to the ED: clinical manifestations, time course, hematologic tests, computed tomographic findings, and treatment.

    Science.gov (United States)

    Takabayashi, Takeshi; Mochizuki, Toshiaki; Otani, Norio; Nishiyama, Kei; Ishimatsu, Shinichi

    2014-12-01

    The prevalence of anisakiasis is rare in the United States and Europe compared with that in Japan, with few reports of its presentation in the emergency department (ED). This study describes the clinical, hematologic, computed tomographic (CT) characteristics, and treatment in gastric and small intestinal anisakiasis patients in the ED. We retrospectively reviewed the data of 83 consecutive anisakiasis presentations in our ED between 2003 and 2012. Gastric anisakiasis was endoscopically diagnosed with the Anisakis polypide. Small intestinal anisakiasis was diagnosed based on both hematologic (Anisakis antibody) and CT findings. Of the 83 cases, 39 had gastric anisakiasis and 44 had small intestinal anisakiasis based on our diagnostic criteria. Although all patients had abdominal pain, the gastric anisakiasis group developed symptoms significantly earlier (peaking within 6 hours) than the small intestinal anisakiasis group (peaking within 48 hours), and fewer patients with gastric anisakiasis needed admission therapy (5% vs 57%, Pfindings revealed edematous wall thickening in all patients, and ascites and phlegmon of the mesenteric fat were more frequently observed in the small intestinal anisakiasis group. In the ED, early and accurate diagnosis of anisakiasis is important to treat and explain to the patient, and diagnosis can be facilitated by a history of raw seafood ingestion, evaluation of the time-to-symptom development, and classic CT findings. Copyright © 2014 Elsevier Inc. All rights reserved.

  16. [Clinical and radiological features of pulmonary tuberculosis manifested as interstitial lung diseases.].

    Science.gov (United States)

    Shi, Ju-Hong; Feng, Rui-E; Tian, Xin-Lun; Xu, Wen-Bing; Xu, Zuo-Jun; Liu, Hong-Rui; Zhu, Yuan-Jue

    2009-12-01

    The purpose of this paper was to investigate the clinical and radiological features of pulmonary tuberculosis presenting as interstitial lung diseases (ILD). We analyzed the data of cases suspected of diffuse parenchyma lung diseases at this hospital between October 2003 and October 2007. The diagnosis of active pulmonary tuberculosis was based on epithelioid granuloma or positive acid-fast bacilli in lung biopsy and changes on serial radiographs obtained during treatment. The data of a series of 230 consecutive patients with suspected ILD were retrospectively analyzed. The diagnosis was confirmed by lung biopsy. Twelve patients were confirmed to have pulmonary tuberculosis. There were 5 males and 7 females with a mean age of 38 +/- 11 years (range, 17 - 68). The median course of disease in these patients was 3 months (range, 0.5 - 18 months). Patients with pulmonary tuberculosis presented with fever (11/12), cough (9/12), weight loss (7/12), dyspnea (7/12), lymphadenopathy (4/12), and splenohepatomegaly (2/12). On chest CT scan, ground-glass attenuation was identified in 4, bilateral patchy infiltration in 5, tree-in-bud appearance 1, and centrilobular lesions in 2 of the 12 patients. During the follow-up period (median, 9 month, range from 3 to 12 month), 11 patients improved, but 1 died of diabetic ketoacidosis. The diagnosis of pulmonary tuberculosis should be considered in suspected ILD patients presenting with fever, splenohepatomegaly and lymphadenopathy.

  17. Lower Functional Connectivity of the Periaqueductal Gray Is Related to Negative Affect and Clinical Manifestations of Fibromyalgia

    Directory of Open Access Journals (Sweden)

    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. Frequency and Clinical Manifestations of Scabies in Suspected Patients Referred to Health Centers of Kashan, Central Iran (2010 - 2014

    Directory of Open Access Journals (Sweden)

    Sima Rasti

    2017-02-01

    Full Text Available Background Scabies is one of the most common itching contagious skin disorder in the world. The agent of disease is Sarcoptes scabiei. Objectives This study was conducted to determine the frequency and clinical manifestations of S. scabies in suspected patients referred to health centers of Kashan during 2010 - 2014. Methods This cross-sectional study was performed on 129 patients suspected to Sarcoptes scabiei. The demographic and clinical symptoms for each of patients were recorded in questionnaire by interview. A deep skin scrap was prepared and wet smear were prepared using 10% KOH. By observation of each form of Sarcoptes was identified as positive sample. The data were recorded in Spss. ver 16.5 and analyzed by X2 and fisher exact tests. Results The results of this study showed that 28 (21.7 % were Sarcoptes positive. The frequency of sarcoptes was higher in males (23% than females (20.6%. The difference was not statistically significant. The most cases were isolated in spring and winter. Sarcoptes infestation was the most in elderly and patients undergone dialysis. There is significant difference between disease and age group and underlying disease (P = 0.03, P = 0.014; respectively. Erosion or pustule was the most clinical signs in positive cases. Conclusions The results of study showed that the rate of scabies infestation in Kashan is relatively high, and the most cases were in elderly patients. Health education to increase awareness of the families for prevention of scabies was recommended.

  19. 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.

  20. Racial and Ethnic Differences in the Pathogenesis and Clinical Manifestations of Uterine Leiomyoma

    Science.gov (United States)

    Catherino, William H.; Eltoukhi, Heba M.; Al-Hendy, Ayman

    2014-01-01

    Uterine leiomyomas are the most common benign gynecologic condition. The prevalence is three times more common among women of African ethnicity. Disparity in this disease is evidenced by earlier age of onset, greater severity of symptoms, and different response to treatment. Although the pathogenesis of disease development is not completely known, growing evidence focuses on investigating the molecular mechanisms in disease development and the influence of ethnicity. Variation in the expression levels or function of estrogen and progesterone receptors, polymorphism of genes involved in estrogen synthesis and/or metabolism (COMT, CYP17), retinoic acid nuclear receptors (retinoid acid receptor-α, retinoid X receptor-α), and aberrant expression of micro-RNAs (miRNAs) are some of the molecular mechanisms that may be involved. Nutritional factors, such as vitamin D deficiency, might also contribute to the higher incidence in dark skinned populations who are also commonly suffer from hypovitaminosis D. Culture and environmental difference might have a role in disease development. Further analysis and better understanding of these mechanisms will provide insight into the molecular basis of racial disparities in leiomyoma formation and will help to develop new innovations in leiomyoma treatment. PMID:23934698

  1. Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome

    Energy Technology Data Exchange (ETDEWEB)

    Kimonis, V.E.; Yang, M.L.; Bale, S.J. [National Institute of Arthritis and Musculoskeletal and Skin Disease, Bethesda, MD (United States)] [and others

    1997-03-31

    Nevoid basal cell carcinoma syndrome (NBCC; Gorlin syndrome), an autosomal dominant disorder linked to 9q22.3-q31, and caused by mutations in PTC, the human homologue of the Drosophila patched gene, comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies and calcification of the falx cerebri. We reviewed the findings on 105 affected individuals examined at the NIH since 1985. The data included 48 males and 57 females ranging in age from 4 months to 87 years. Eighty percent of whites (71/90) and 38% (5/13) of African-Americans had at least one basal cell carcinoma (BCC), with the first tumor occurring at a mean age of 23 (median 20) years and 21 (median 20) years, respectively. Excluding individuals exposed to radiation therapy, the number of BCCs ranged from 1 to >1,000 (median 8) and 1 to 3 (median 2), respectively, in the 2 groups. Jaw cysts occurred in 78/105 (74%) with the first tumor occurring in 80% by the age of 20 years. The number of total jaw cysts ranged from 1 to 28 (median 3). Palmar pits and plantar pits were seen in 87%. Ovarian fibromas were diagnosed by ultrasound in 9/52 (17%) at a mean age of 30 years. Medulloblastoma occurred in 4 patients at a mean age of 2.3 years. Three patients had cleft lip or palate. Physical findings include {open_quotes}coarse face{close_quotes} in 54%, relative macrocephaly in 50%, hypertelorism in 42%, frontal bossing in 27%, pectus deformity in 13%, and Sprengel deformity in 11%. This study delineates the frequency of the clinical and radiological anomalies in NBCC in a large population of US patients and discusses guidelines for diagnosis and management. 48 refs., 3 figs., 5 tabs.

  2. P450 oxidoreductase deficiency: a disorder of steroidogenesis with multiple clinical manifestations.

    Science.gov (United States)

    Miller, Walter L

    2012-10-23

    Cytochrome P450 enzymes catalyze the biosynthesis of steroid hormones and metabolize drugs. There are seven human type I P450 enzymes in mitochondria and 50 type II enzymes in endoplasmic reticulum. Type II enzymes, including both drug-metabolizing and some steroidogenic enzymes, require electron donation from a two-flavin protein, P450 oxidoreductase (POR). Although knockout of the POR gene causes embryonic lethality in mice, we discovered human POR deficiency as a disorder of steroidogenesis associated with the Antley-Bixler skeletal malformation syndrome and found mild POR mutations in phenotypically normal adults with infertility. Assay results of mutant forms of POR using the traditional but nonphysiologic assay (reduction of cytochrome c) did not correlate with patient phenotypes; assays based on the 17,20 lyase activity of P450c17 (CYP17) correlated with clinical phenotypes. The POR sequence in 842 normal individuals revealed many polymorphisms; amino acid sequence variant A503V is encoded by ~28% of human alleles. POR A503V has about 60% of wild-type activity in assays with CYP17, CYP2D6, and CYP3A4, but nearly wild-type activity with P450c21, CYP1A2, and CYP2C19. Activity of a particular POR variant with one P450 enzyme will not predict its activity with another P450 enzyme: Each POR-P450 combination must be studied individually. Human POR transcription, initiated from an untranslated exon, is regulated by Smad3/4, thyroid receptors, and the transcription factor AP-2. A promoter polymorphism reduces transcription to 60% in liver cells and to 35% in adrenal cells. POR deficiency is a newly described disorder of steroidogenesis, and POR variants may account for some genetic variation in drug metabolism.

  3. Occurrence, clinical manifestation and the epidemiological implications of naturally occurring canine trypanosomosis in western Kenya

    Directory of Open Access Journals (Sweden)

    G.O. Matete

    2003-11-01

    Full Text Available Domestic dogs were screened for Trypanosoma brucei infection using the haematocrit centrifugation technique as part of routine active surveillance exercises in the Busia and Teso districts of Kenya. The purpose was to assess the role of dogs as sentinels for the occurrence of human sleeping sickness. Out of 200 dogs screened, five were found to be infected at the various test sites. These five succumbed to the disease within four weeks, and exhibited a distinct and pronounced corneal opacity before death. Blood from two naturally infected dogs were tested for the presence of the serum resistance associated (SRA gene and one tested positive, confirming it as human infective (T. brucei rhodesiense prevalence (0.5 %. It is considered that the occurrence of this clinical sign could be used as an early warning prediction of future outbreaks. This type of prediction could form an integral part of an indigenous technical knowledge set in areas lying at the edges of the tsetse (Glossina belts where T. brucei is the main trypanosome species that affects dogs. The occurrence of corneal opacity in dogs could indicate a rise in the levels of T. brucei a proportion of which could be human infective T. b. rhodesiense circulating in the population early enough before disease outbreak occurs. It is thought that during sleeping sickness epidemics the domestic dog will be the first casualty rapidly succumbing to disease long before it is noticed in man. Prompt prediction of disease outbreaks would thus enable early interventions that would reduce the morbidity, mortality and the general economic losses associated with sleeping sickness to be instituted.

  4. Clinical manifestations of bacteremia caused by Aeromonas species in southern Taiwan.

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    Hung-Jen Tang

    Full Text Available This study is conducted to investigate the clinical characteristics of patients with bacteremia caused by Aeromonas species.Patients with bacteremia caused by Aeromonas species during the period 2009 to 2013 were identified from a computerized database of a regional hospital in southern Taiwan. The medical records of these patients were retrospectively reviewed.A total of 91 patients with bacteremia due to Aeromonas species were identified. In addition to 16 (17.6% primary bacteremia, the most common source of secondary infection is peritonitis (n = 27, 29.7%, followed by biliary tract infection (n = 18, 19.8%, and SSTI (n = 12, 13.2%, pneumonia (n = 9, 9.9%, catheter-related bloodstream infection (n =  5, 5.5%, and genitourinary tract infection (n = 4, 4.4%. A. hydrophila (n = 35, 38.5% was the most common pathogen, followed by A. veronii biovar sobria (n = 31, 34.1%, A. caviae (n = 14, 15.4%, and A. veronii biovar veronii (n = 9, 9.9%. Forty-three (47.3% patients were classified as healthcare-associated infections (HCAI causes by Aeromonas species, and patients with HCAI were more likely to have cancer, and receive immunosuppressant than patients with community-acquired bacteremia. The overall outcomes, including rate of ICU admission, acute respiratory failure, and mortality were 33.3%, 28.6%, and 23.1%, respectively. Multivariate analysis showed that the in-hospital day mortality was significantly associated only with underlying cancer (P <.001, and initial shock (P <.001.Aeromonas species should be considered one of the causative pathogens of healthcare-associated bacteremia, especially in immunocompromised patients. In addition, it can be associated with high fatality. Cancer and initial shock were the poor prognostic factors.

  5. Clinical manifestations of optic pit maculopathy as demonstrated by spectral domain optical coherence tomography.

    Science.gov (United States)

    Tzu, Jonathan H; Flynn, Harry W; Berrocal, Audina M; Smiddy, William E; Murray, Timothy G; Fisher, Yale L

    2013-01-01

    The purpose of this retrospective study was to evaluate the characteristic features, including spectral-domain optical coherence tomography (SD-OCT), clinical course, and outcome of treatment if given for patients with optic disc pit maculopathy. We investigated a consecutive series of patients with a diagnosis of optic pit maculopathy treated between 2001 and 2012 at the Bascom Palmer Eye Institute. Patients were divided into two main groups, ie, patients who were observed without surgery and patients who received surgical intervention. The main outcome measures were presenting and final visual acuity, and changes in SD-OCT imaging were recorded. Other data including age, gender, eye, age of onset, length of follow-up, location of optic pit, and location of fluid by OCT were also recorded. On OCT, 67% (12/18) of the eyes showed schisis-like cavities, 22% (4/18) had only subretinal fluid, and 17% (3/18) had only a schisis-like cavity without subretinal fluid. In the patients managed by observation, visual acuity was ≥20/200 in 6/8 eyes initially and 6/8 eyes at last follow-up. Ten of 18 patients received either focal laser, surgery or both. Six of 10 eyes undergoing surgery had initial visual acuity ≥ 20/200, and 8 of 10 eyes undergoing surgery had a visual acuity of ≥20/200 at last follow-up. In this study, many eyes were observed and remained stable during follow-up. In eyes with reduced vision, surgical intervention produced variable outcomes, and persistent intraretinal/subretinal fluid was a common occurrence.

  6. Clinical manifestations of optic pit maculopathy as demonstrated by spectral domain optical coherence tomography

    Directory of Open Access Journals (Sweden)

    Tzu JH

    2013-01-01

    Full Text Available Jonathan H Tzu, Harry W Flynn Jr, Audina M Berrocal, William E Smiddy, Timothy G Murray, Yale L FisherDepartment of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, FL, USAPurpose: The purpose of this retrospective study was to evaluate the characteristic features, including spectral-domain optical coherence tomography (SD-OCT, clinical course, and outcome of treatment if given for patients with optic disc pit maculopathy.Methods: We investigated a consecutive series of patients with a diagnosis of optic pit maculopathy treated between 2001 and 2012 at the Bascom Palmer Eye Institute. Patients were divided into two main groups, ie, patients who were observed without surgery and patients who received surgical intervention. The main outcome measures were presenting and final visual acuity, and changes in SD-OCT imaging were recorded. Other data including age, gender, eye, age of onset, length of follow-up, location of optic pit, and location of fluid by OCT were also recorded.Results: On OCT, 67% (12/18 of the eyes showed schisis-like cavities, 22% (4/18 had only subretinal fluid, and 17% (3/18 had only a schisis-like cavity without subretinal fluid. In the patients managed by observation, visual acuity was ≥20/200 in 6/8 eyes initially and 6/8 eyes at last follow-up. Ten of 18 patients received either focal laser, surgery or both. Six of 10 eyes undergoing surgery had initial visual acuity ≥ 20/200, and 8 of 10 eyes undergoing surgery had a visual acuity of ≥20/200 at last follow-up.Conclusion: In this study, many eyes were observed and remained stable during follow-up. In eyes with reduced vision, surgical intervention produced variable outcomes, and persistent intraretinal/subretinal fluid was a common occurrence.Keywords: optic pit maculopathy, spectral-domain optical coherence tomography

  7. Clinical manifestations and treatment outcomes in HIV-1-infected children receiving antiretroviral therapy in Karachi, Pakistan.

    Science.gov (United States)

    Mir, Fatima; Qamar, Farah Naz; Baig-Ansari, Naila; Abro, Azra Ghayas; Abbas, Syed Qamar; Kazi, Mohammed Ahmed; Rizvi, Arjumand; Zaidi, Anita Kaniz Mehdi

    2014-04-15

    The impact of antiretroviral (ARV) therapy on immunological and growth parameters in HIV-positive children in Pakistan has not been reported to date. A retrospective chart review of children diagnosed with HIV at the Sindh AIDS Control Proigramme (SACP) and registered at the Aga Khan University, Karachi, between January 2005 and 2013 was conducted, evaluating clinical and laboratory profiles of HIV+ ARV+ children for ARV impact (serial height and weight CD4 and viral counts). Twenty-four children were diagnosed and registered as HIV positive over five years, and 20 were started on ARV. Six were excluded from analysis (ARV duration treatment failure at a median duration of 25 weeks (IQR 18-32) on ARV and underwent resistance genotyping. All nine had NNRTI resistance, two had high-grade NRTI resistance (≥ 4 thymidine analog mutations). Median age at start of ARV was 71.5 weeks (IQR 37.5-119). Median baseline weight for age (WAZ) and height for age (HAZ) z-scores changed from -1.94 to 1.69 and -1.99 to -1.59, respectively, after six months of therapy. Median CD4 percentage and viral load at baseline changed from 13.8 to 17.8, while viral load changed from 285 × 104 copies to zero at six months. ARV improved absolute CD4 and viral counts. Weight and height did not  improve significantly, highlighting the need for aggressive nutritional rehabilitation. Early development of ARV resistance in these children requires formal assessment.

  8. Partial clinical response to anakinra in severe palmoplantar pustular psoriasis.

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    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.

  9. 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.

  10. 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.

  11. Clinical manifestations of primary hyperthyroidism in the elderly patients at the out-patient clinic of Srinagarind Hospital.

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    Limpawattana, Panita; Sawanyawisut, Kittisak; Mahankanukrau, Ajanee; Wongwipaporn, Chaiyasit

    2006-02-01

    The authors reviewed the outpatient charts diagnosed as hyperthyroidism at Srinagarind Hospital from June 1998-June 2004. The objective was to compare the clinical features of hyperthyroidism in patients older and younger than 60 years old. There were 922 cases enrolled, 84 cases (9.11%) were 60 years old and above. The female: male ratio was 3.4:1 and 4:1 and the mean ages were 64.2 +/- 3.7 and 37.4 +/- 11.2 years old in the elder and younger group, respectively. The common presentations were dyspnea (94.1, 96.5%), weight loss (93.8, 87.9%) and palpitation (83.3, 93.1%) in the elder and younger, respectively. The more significant clinical presentations in the elder group were atrial fibrillation, weakness and anorexia whereas exophthalmos, goiter, heat intolerance and hyperhidrosis were not as frequent. Thus, the classic presentations often lacked in the elder group. Therefore, unexplained AF, weakness and anorexia should not exclude hyperthyroidism even with paucity of typical clinical features.

  12. Clinical manifestations of meningoencephalitis in HIV-positive patients depending on the etiological factor meningoencephalitis

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    A. I. Gozhenko

    2015-08-01

    Ukrainian Research Institute for Medicine of Transport, Odessa, Ukraine   Summary Authors analyzed of hospital charts a resume 132 patients of the Odessa regional center of fight and the prevention of AIDS which was on hospitalization with the diagnosis a meningoencephalitis. Causative agents of a meningoencephalitis were toxoplasmas, a cytomegalovirus, a cryptococcus, a mycobacteria of tuberculosis and not revealed agent. Authors established that irrespective of character of the activator development of a meningoencephalitis in HIV-positive people is characterized by a slow, sluggish current and a monotonous overall clinical picture. Some features connected with character of the activator take place at research of the neurologic status. Authors connect slackness and monotony of process with decrease general reactionary ability of an organism of HIV-infected, and feature of a neurologic picture with additional load on the brain structures to which affinity  causative agents of a meningoencephalitis. Keywords: HIV; meningoencephalitis; etiology; neurological status.     Резюме Авторы проанализировали данные историй болезни 132 больных Одесского областного центра борьбы и профилактики СПИДа, находившихся на стационарном лечении с диагнозом менингоэнцефалит. Возбудителями менингоэнцефалита были токсоплазмы, цитомегаловирус, криптококк, микобактерия туберкулеза. Авторы установили, что независимо от характера возбудителя развитие минингоэнцефалита у ВИЧ-позитивных людей характеризуется медленным, вялым течением и однообразной общей клинической к

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

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    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.

  14. Correlation between clinical manifestations of nocturnal enuresis and attentional performance in children with attention deficit hyperactivity disorder (ADHD).

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    Yang, Teng-Kai; Huang, Kuo-How; Chen, Shyh-Chyan; Chang, Hong-Chiang; Yang, Hung-Ju; Guo, Ya-Jun

    2013-01-01

    Children with attention deficit hyperactivity disorder (ADHD) tend to be more vulnerable to various forms of voiding dysfunction and nocturnal enuresis (NE). We attempt to compare the clinical manifestations and attentional performance between ADHD children with NE and those without NE. We consecutively enrolled children diagnosed with ADHD in child and adolescent psychiatric clinics. The questionnaires for evaluation of ADHD symptoms and voiding dysfunction symptoms were administered to all study participants. All participants also received the Test Battery for Attention Performance (TAP) for assessment of attentional function. A total of 53 children were enrolled in this study, comprising 47 boys and six girls. The prevalence rate of NE was 28.3%. Children in the NE group had statistically significant higher dysfunctional voiding symptom score (5.40 ± 3.66 vs.3.16 ± 2.74; p = 0.018) and two subscales of "When I wet myself, my underwear is soaked" (p attention than the non-NE group. Children with ADHD have a high prevalence of NE. ADHD children with NE had a significantly higher dysfunctional voiding symptom score and shorter reaction time in most domains of the TAP test. Further study is needed to discern the impact of NE on the neuropsychological function of ADHD children. Copyright © 2012. Published by Elsevier B.V.

  15. Clinical indicators for severe prognosis of scrub typhus

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    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

  16. Clinical Manifestations, Treatment, and Outcome of Hospitalized Patients with Plasmodium vivax Malaria in Two Indian States: A Retrospective Study

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    Jagjit Singh

    2013-01-01

    Full Text Available This was a retrospective study done on 110 patients hospitalized with P. vivax malaria in three medical college hospitals, one in the union territory of Chandigarh and the other two in Gujarat, that is, Ahmedabad and Surat. The clinical presentation, treatment, and outcome were recorded. As per WHO criteria for severity, 19 of 110 patients had severe disease—six patients had clinical jaundice with hepatic dysfunction, three patients had severe anemia, three had spontaneous bleeding, two had acute respiratory distress syndrome, and one had cerebral malaria, hyperparasitemia, renal failure, circulatory collapse, and metabolic acidosis. All patients with severe P. vivax malaria survived, but one child with cerebral malaria had neurological sequelae. There was wide variation in the antimalarial treatment received at the three centres. Plasmodium vivax malaria can no longer be considered a benign condition. WHO guidelines for treatment of P. vivax malaria need to be reinforced.

  17. Newborn Congenital Cytomegalovirus Screening Based on Clinical Manifestations and Evaluation of DNA-based Assays for In Vitro Diagnostics.

    Science.gov (United States)

    Fujii, Tomoyuki; Oka, Akira; Morioka, Ichiro; Moriuchi, Hiroyuki; Koyano, Shin; Yamada, Hideto; Saito, Shigeru; Sameshima, Hiroshi; Nagamatsu, Takeshi; Tsuchida, Shinya; Inoue, Naoki

    2017-10-01

    To establish a strategy for congenital cytomegalovirus (cCMV) screening and to establish confirmatory assays approved as in vitro diagnostics by the regulatory authorities, we evaluated the clinical risks and performance of diagnostic assays developed by commercial companies, since cCMV infection has significant clinical consequences. Newborns with clinical manifestations considered to be consequences of cCMV infection (n = 575) were screened for the presence of cytomegalovirus (CMV) DNA in urine specimens collected onto filter paper placed in their diapers using the polymerase chain reaction-based assay reported previously. Liquid urine specimens were obtained from all of 20 CMV-positive newborns and 107 of the CMV-negative newborns identified in the screening. We used these 127 specimens, as well as 12 from cCMV cases identified in a previous study and 41 from healthy newborns, to compare the performance of 2 commercial assays and 1 in-house assay. The risk-based screening allowed the identification of cCMV cases at least 10-fold more efficiently than our previous universal screening, although there appears to be a limit to the identification of asymptomatically infected newborns. Although CMV-specific IgM during pregnancy was found frequently in mothers of cCMV newborns, CMV-IgM alone is not an effective diagnostic marker. The urine-filter-based assay and the 3 diagnostic assays yielded identical results. Although risk-based and universal newborn screening strategies for cCMV infection each have their respective advantages and disadvantages, urine-filter-based assay followed by confirmatory in vitro diagnostics assays is able to identify cCMV cases efficiently.

  18. Follow-up survey of the prevalence, diagnosis, clinical manifestations and treatment of Spirocerca lupi in South Africa

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    Remo Lobetti

    2014-11-01

    Full Text Available Spirocercosis is an important disease in South Africa. The object of this study was to determine if there had been a change in the prevalence, clinical manifestations and treatment of Spirocerca lupi over a 14-year period. A questionnaire was sent to 577 veterinary practices throughout South Africa in 2012. Of responders, 76% indicated that S. lupi occurred in their area, whilst 24% indicated that it did not; 84% considered S. lupi not to be a new phenomenon, whereas 16% considered it to be new. Monthly or seasonal distribution of the disease was not reported, and 76% of responders reported it to occur in no specific breed of dog, whereas 24% reported a breed risk, most considering large breeds to be at greater risk. No specific age or sex was identified as at higher risk. Common owner complaints were vomiting, weight loss, cough, or regurgitation. Reported clinical findings tended to mirror the clinical signs reported by owners. Most common diagnostic methods used were radiology, endoscopy, faecal flotation, and post mortem examination. Forty-four percent did not report seeing asymptomatic cases, 40% reported asymptomatic cases and 16% did not know. Associated complications were reported by 85% of responders, and included oesophageal neoplasia, hypertrophic osteopathy and acute haemothorax. Four different drugs were used as therapy: doramectin, ivermectin, milbemycin and Advocate®, with 9% of the responders using a combination of these four; 85% considered treatment to be effective and 15% ineffective. Treatment was considered more effective if the disease was diagnosed early and there were no complications. Two important conclusions were that more cases are being seen and that efficacy of therapy has increased, with a decrease in the mortality rate.

  19. Seizures and epilepsy in elderly patients of an urban area of Iran: clinical manifestation, differential diagnosis, etiology, and epilepsy subtypes.

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    Tabatabaei, Sayed Shahaboddin; Delbari, Ahmad; Salman-Roghani, Reza; Shahgholi, Leili; Fadayevatan, Reza; Mokhber, Naghmeh; Lokk, Johan

    2013-08-01

    The incidences of seizures and epilepsy in the population show a peak after 60 years of age. Due to the lack of reported clinical aspects of seizure and epilepsy in the older patients in our region in Iran, this study was conducted to describe the clinical manifestation, etiology, differential diagnosis, and epilepsy subtypes of epilepsy and seizure. A cross-sectional retrospective study was performed on all consecutively elderly seizure and epilepsy patients, referred to the Epilepsy Association in the city of Qom, Iran over a 10-year period. A total of 466 patients aged >60 years were admitted. 31 % of the patients had epilepsy or seizure and 69 % of them had non-epileptic events. The most prevalent differential diagnoses in the beginning were syncope and cardiovascular disorders. The most frequent clinical symptom of epilepsy was generalized tonic-clonic seizures (75 %). The most common cause of seizure was systemic metabolic disorder (27 %). In epileptic elderly patients, no cause was ascertained for 38 % and the most frequently observed pathological factors were cerebrovascular diseases, which accounted for 24 %. The most common type of epileptic seizure was generalized epileptic seizures (75 %). 10 % of elderly epileptic patients suffered from status epilepticus, which was primarily caused by anoxia. Despite the rising rate and potentially profound physical and psychosocial effects of seizures and epilepsy, these disorders have received surprisingly little research focus and attention in Iran. Referring older patients to a specialist or a specialist epilepsy center allows speedy assessment, appropriate investigation and treatment, and less likely to miss the diagnosis.

  20. 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

  1. The Ethics of Clinical Trials Research in Severe Mood Disorders.

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    Nugent, Allison C; Miller, Franklin G; Henter, Ioline D; Zarate, Carlos A

    2017-07-01

    Mood disorders, including major depressive disorder (MDD) and bipolar disorder (BD), are highly prevalent, frequently disabling, and sometimes deadly. Additional research and more effective medications are desperately needed, but clinical trials research in mood disorders is fraught with ethical issues. Although many authors have discussed these issues, most do so from a theoretical viewpoint. This manuscript uses available empirical data to inform a discussion of the primary ethical issues raised in mood disorders research. These include issues of consent and decision-making capacity, including patients' motivations for participating in research. We also address drug withdrawals, placebo controls, and the overall safety of research. Finally, we examine the extant literature for studies discussing potential indirect benefits of clinical trials research to participants. Taken together, the evidence suggests that clinical trials research incorporating drug withdrawals and placebo controls can be conducted safely and ethically, even in patients with severe or treatment-resistant mood disorders. In fact, given the dearth of effective treatment options for this population, it is our opinion that a moral imperative exists to extend the offer of research participation to severely ill or treatment-resistant groups. Published 2017. This article is a U.S. Government work and is in the public domain in the USA.

  2. Improvement in pain severity category in clinical trials of pregabalin

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    Parsons B

    2016-10-01

    Full Text Available Bruce Parsons,1 Charles E Argoff,2 Andrew Clair,1 Birol Emir1 1Pfizer, New York, NY, USA; 2Albany Medical Center, Albany, NY, USA Background: Pregabalin is approved by the US Food and Drug Administration for the treatment of fibromyalgia (FM, diabetic peripheral neuropathy (DPN, postherpetic neuralgia (PHN, and neuropathic pain due to spinal cord injury (SCI. Approval was based on clinical trial data demonstrating statistically significant differences in pain scores versus placebo. However, statistically significant pain relief may not always equate to clinically meaningful pain relief. To further characterize the clinical benefit of pregabalin, this analysis examined shifts in pain severity categories in patients with FM, DPN/PHN (pooled in this analysis, and SCI treated with pregabalin.Methods: Data were pooled from 23 placebo-controlled trials in patients with FM (1,623 treated with pregabalin, 937 placebo, DPN/PHN (2,867 pregabalin, 1,532 placebo, or SCI (181 pregabalin, 175 placebo. Pain scores were assessed on an 11-point numeric rating scale and categorized as mild (0 to <4, moderate (4 to <7, or severe (7 to 10. Only patients with mean score ≥4 at baseline were randomized to treatment. The percentage of patients shifting pain category from baseline to endpoint for pregabalin and placebo was analyzed using a modified ridit transformation with the Cochran–Mantel–Haenszel procedure.Results: A higher proportion of patients shifted to a less severe pain category at endpoint with pregabalin compared with placebo. With flexible-dose pregabalin, the percentage of patients improving from: severe to mild (pregabalin versus placebo was 15.8 versus 13.4 in FM patients, 36.0 versus 16.6 in DPN/PHN patients, 14.3 versus 7.7 in SCI patients; severe to moderate was 28.7 versus 28.2 in FM patients, 32.5 versus 28.2 in DPN/PHN patients, 35.7 versus 28.2 in SCI patients; and moderate to mild was 38.3 versus 26.4 in FM patients, 59.5 versus 41.4 in

  3. Severe paraquat poisoning: clinical and radiological findings in a survivor

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    Neves, Fabio Fernandes; Sousa, Romualdo Barroso; Pazin-Filho, Antonio; Cupo, Palmira; Elias Junior, Jorge; Nogueira-Barbosa, Marcello Henrique, E-mail: fabioneves@hcrp.usp.b [University of Sao Paulo (USP), Sao Paulo, SP (Brazil). Medical School

    2010-07-01

    Paraquat is a nonselective contact herbicide of great toxicological importance, being associated with high mortality rates, mainly due to respiratory failure. We report the case of a 22-year-old male admitted to the emergency room with a sore throat, dysphagia, hemoptysis, and retrosternal pain after the ingestion of 50 mL of a paraquat solution, four days prior to admission. Chest CT scans revealed pulmonary opacities, pneumomediastinum, pneumothorax, and subcutaneous emphysema. The patient was submitted to two cycles of immunosuppressive therapy with cyclophosphamide, methylprednisolone, and dexamethasone. The pulmonary gas exchange parameters gradually improved, and the patient was discharged four weeks later. The clinical and tomographic follow-up evaluations performed at four months after discharge showed that there had been further clinical improvement. We also present a brief review of the literature, as well as a discussion of the therapeutic algorithm for severe paraquat poisoning. (author)

  4. 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.

  5. Shoe contact dermatitis from dimethyl fumarate: clinical manifestations, patch test results, chemical analysis, and source of exposure.

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    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.

  6. Pharyngeal squamous cell papilloma in adult Japanese: comparison with laryngeal papilloma in clinical manifestations and HPV infection.

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    Hirai, Ryoji; Makiyama, Kiyoshi; Higuti, Yusho; Ikeda, Atsuo; Miura, Masatoshi; Hasegawa, Hisashi; Kinukawa, Noriko; Ikeda, Minoru

    2012-10-01

    A number of reports have investigated the relationship between laryngeal papilloma and human papilloma virus (HPV) infection. On the other hand, it is unclear whether the HPV infection is involved in the occurrence of pharyngeal papilloma. We hypothesized that HPV infection was involved in the occurrence of pharyngeal papilloma similarly to laryngeal papilloma. To verify this hypothesis, we investigated the presence of HPV infection. Furthermore, clinical manifestations of pharyngeal papilloma, which had rarely been reported, were discussed. A male-to-female ratio, solitary or multiple occurrences, and koilocytosis were examined in cases with pharyngeal papilloma. HPV DNA was examined with unfixed surgically resected specimens of pharyngeal papilloma. A screening test by the liquid-phase hybridization method was carried out for the HPV high-risk group (16, 18, 31, 33, 35, 39, 45, 51, 56, 58, 59, and 68) and HPV low-risk group (6, 11, 42, 43, 44). As a control, 15 cases with laryngeal papilloma for which the same screening test was carried out were employed. Pharyngeal papilloma occurred as a solitary lesion more often, whereas laryngeal papilloma occurred as multiple tumors more frequently. The HPV infection rate was 0% in pharyngeal papilloma cases, which was in stark contrast with 66.7% in the HPV low-risk group in laryngeal papilloma cases. Pharyngeal papilloma occurred as a solitary lesion in females more frequently. Contrary to our hypothesis, the involvement of HPV infection was unlikely in the occurrence of pharyngeal papilloma.

  7. Frequency of Macroprolactinemia in Hyperprolactinemic Women Presenting with Menstrual Irregularities, Galactorrhea, and/or Infertility: Etiology and Clinical Manifestations

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    Alfredo Leaños-Miranda

    2013-01-01

    Full Text Available Aim. To determine the frequency of macroprolactinemia, its etiology, and the clinical manifestations in patients with hyperprolactinemia presenting with menstrual irregularities, galactorrhea, and/or infertility who were attended by the gynecology-endocrinology service. Methods. In a cross-sectional study, 326 hyperprolactinemic women were tested for serum prolactin (PRL concentrations before and after chromatographic separation (gel filtration and affinity with protein G and extraction of free PRL with polyethylene glycol (PEG. Results. Sera from 57 patients (17.5% were found to have macroprolactinemia. The presence of macroprolactinemia was attributable to anti-PRL autoantibodies in 54 (94.7% patients. The median serum PRL levels were similar in patients with or without macroprolactinemia (42.0 versus 38.1 ng/mL. In contrast, patients with macroprolactinemia had lower serum-free PRL levels (median 9.2 versus 31.7 ng/mL, . Patients without macroprolactinemia had a higher frequency of galactorrhea and abnormal pituitary imagine findings (. Conclusions. We can conclude that macroprolactinemia should be considered as a benign variant, and it must be ruled out in women presenting with menstrual irregularities, galactorrhea, and/or infertility in order to investigate other causes different than hyperprolactinemia. Serum PRL precipitated with PEG is a convenient and simple procedure to screen for the presence of macroprolactinemia.

  8. Effect of Proinflammatory Cytokines (IL-6, TNF-α, and IL-1β on Clinical Manifestations in Indian SLE Patients

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    Vinod Umare

    2014-01-01

    Full Text Available Systemic lupus erythematosus (SLE is an inflammatory rheumatic disease characterized by production of autoantibodies and organ damage. Elevated levels of cytokines have been reported in SLE patients. In this study we have investigated the effect of proinflammatory cytokines (IL-6, TNF-α, and IL-1β on clinical manifestations in 145 Indian SLE patients. One hundred and forty-five healthy controls of the same ethnicity served as a control group. Clinical disease activity was scored according to SLEDAI score. Accordingly, 110 patients had active disease and 35 patients had inactive disease. Mean levels of IL-6, TNF-α, and IL-1β were found to be significantly higher in SLE patients than healthy controls (P<0.001. Mean level of IL-6 for patients with active disease (70.45±68.32 pg/mL was significantly higher (P=0.0430 than those of inactive disease patients (43.85±63.36 pg/mL. Mean level of TNF-α was 44.76±68.32 pg/mL for patients with active disease while it was 25.97±22.03 pg/mL for those with inactive disease and this difference was statistically significant (P=0.0161. Similar results were obtained for IL-1β (P=0.0002. Correlation between IL-6, TNF-α, and IL-1β serum levels and SLEDAI score was observed (r=0.20, r=0.27, and r=0.38, resp.. This study supports the role of these proinflammatory cytokines as inflammatory mediators in active stage of disease.

  9. Hydroa vacciniforme-like lymphoma with primarily periorbital swelling: 7 cases of an atypical clinical manifestation of this rare cutaneous T-cell lymphoma.

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    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.

  10. Clinical neuropsychiatric symptoms in perpetrators of severe crimes against persons.

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    Söderström Anckarsäter, Henrik

    2005-01-01

    The objective of the study was to explore the possibility of common signs and symptoms of childhood-onset neuropsychiatric disorders and personality disorders, especially psychopathy, in a cohort of violent offenders. A structured neuropsychiatric status comprising features recorded in childhood-onset neuropsychiatric disorders and adult personality disorders was assessed in 89 perpetrators of severe crimes against other persons, analysed for factor structure, and compared to clinical diagnostics of neuropsychiatric disorders and independent assessments of psychopathy rated by the Psychopathy Checklist Revised (PCL-R). One or several childhood-onset neuropsychiatric disorders [autism, attention-deficit/hyperactivity disorder (AD/HD), tics and learning disability] affected the majority of adult offenders. A factor analysis yielded four higher-order problem constellations: Executive Dysfunction, Compulsivity, Social Interaction Problems and Superficiality. All four constellations were positively correlated with life histories of aggression, stressing the clinical importance of these problems in adult forensic psychiatry. Compulsivity and Social Interaction Problems were associated with autistic traits and tics, Executive Dysfunction with AD/HD, conduct disorder and psychopathic as well as autistic traits. Superficiality was a distinct aspect of AD/HD and psychopathic traits, especially the PCL-R factor reflecting interpersonal callousness. Neuropsychiatric disorders and personality disorders such as psychopathy share common symptoms. The various facets of psychopathy are associated with executive dysfunction and empathy deficits with superficial understanding of self, others and the rules of communication.

  11. [Pulmonary Manifestations of Vasculitis].

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    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.

  12. Cardiovascular manifestations of Alkaptonuria.

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    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.

  13. Clinical and radiological analysis of severe acute respiratory syndrome

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    Li Long; Li Zhi; Chi Xiaoyu; Huang Shupeng; Sheng Yan

    2003-01-01

    Objective: To study the X-ray features of severe acute respiratory syndrome (SARS). Methods: The clinical data and X-ray appearances of 29 cases with SARS were analyzed retrospectively. Results: Epidemic outbreak of SARS has occurred at this area. 29 cases of SARS in this group began with a fever. 15 cases (51.7%) experienced mild respiratory symptoms. In 10 patients (34.5%) the antibacterial medication showed inefficacy before hospitalization. Leucocyte counting was normal in 18 cases (62.1%) and decreased in 11 cases (37.9%). Platelet counting slightly decreased in 7 cases (24.1%). Hepatic function test was abnormal in 16 patients (55.2%), mostly with a decrease of serum enzymology. Obvious abnormalities were seen on the chest films, which were in sharp contrast with the mild clinical respiratory signs. Chest X-ray findings were as follows: Exaggerated and indistinct lung markings with reticular shadow in 7 cases (24.1%), ground-glass opacity in 3 cases (10.4%), small patchy and multi-patchy imaging in 12 cases (41.4%), and large patchy shadow in 7 cases (24.1%). X-ray abnormality was presented later and absorbed slower. Conclusion: SARS carries a variety of X-ray appearances. The combined use of epidemiologic history, clinical situation, laboratory tests, and imaging examinations can make a definite diagnosis

  14. 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.

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

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    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.

  16. 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.

  17. Clinical characteristics of Japanese patients with severe hypertriglyceridemia.

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    Tada, Hayato; Kawashiri, Masa-Aki; Nakahashi, Takuya; Yagi, Kunimasa; Chujo, Daisuke; Ohbatake, Azusa; Mori, Yukiko; Mori, Shunsuke; Kometani, Mitsuhiro; Fujii, Hiroshi; Nohara, Atsushi; Inazu, Akihiro; Mabuchi, Hiroshi; Yamagishi, Masakazu; Hayashi, Kenshi

    2015-01-01

    Although of interest, few data exist on the clinical characteristics of Japanese patients with an extremely high triglyceride level (≥ 1000 mg/dL). We assessed the clinical characteristics of Japanese patients with an extremely high triglyceride level. We investigated the presence of coronary artery disease, history of pancreatitis, the presence of fatty liver, and the potential causes of elevated triglyceride in Japanese subjects with an extremely high level of fasting triglyceride (≥ 1000 mg/dL) among 70,368 subjects whose serum triglyceride was measured for any reason at Kanazawa University Hospital from April 2004 to March 2014. We identified 215 (0.31%) subjects (mean age, 46 years; male, 170, mean body mass index, 25 kg/m(2)) with severe hypertriglyceridemia. Among them, 4 (1.9%) subjects were classified as type I, 97 (45.1%) subjects were type IV, and 114 (53.0%) subjects were type V hyperlipidemia, according to Fredrickson's classification. Among 215 subjects, 116 subjects (54.0%) drank alcohol, 58 (27.0%) showed heavy intake (≥ 60 g/d), and 64 (29.8%) subjects had diabetes. In total, 59 (27.4%) subjects had transient severe hypertriglyceridemia caused by corticosteroids (N = 19), antidepressant (N = 18), l-asparaginase and steroids for acute lymphoid leukemia (N = 15), hormone replacement therapy for breast cancer (N = 9), β-blocker (N = 5), hypothyroidism (N = 4), pregnancy (N = 4), and panhypopituitarism (N = 2). As many as 119 (55.3%) subjects exhibited fatty liver. Moreover, 12 (5.6%) and 17 (7.9%) subjects had a history of pancreatitis and coronary artery disease, respectively. A variety of situations can cause severe hypertriglyceridemia. We suggest that potential secondary causes should be carefully assessed for such patients. Copyright © 2015 National Lipid Association. Published by Elsevier Inc. All rights reserved.

  18. Clinical manifestations of pulmonary mucosa-associated lymphoid tissue lymphoma: single-center experience with 18 patients

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    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

  19. Radiographic manifestations of hypochondroplasia

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    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.

  20. Clinical and serological manifestations associated with interferon-α levels in childhood-onset systemic lupus erythematosus

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    Mariana Postal

    2012-01-01

    Full Text Available OBJECTIVE: To determine the serum levels of interferon alpha in childhood-onset systemic lupus erythematosus patients, their first-degree relatives and healthy controls and to evaluate the associations between serum interferon alpha and disease activity, laboratory findings and treatment features. METHODS: We screened consecutive childhood-onset systemic lupus erythematosus patients in a longitudinal cohort at the pediatric rheumatology unit of the State University of Campinas between 2009 and 2010. All patients demonstrated disease onset before the age of 16. Disease status was assessed according to the Systemic Lupus Erythematosus Disease Activity Index (SLEDAI and Systemic Lupus International Collaborating Clinics/American College of Rheumatology Damage Index (SDI. Interferon alpha levels were measured using an enzyme-linked immunoabsorbent assay. RESULTS: We included 57 childhood-onset systemic lupus erythematosus patients (mean age 17.33±4.50, 64 firstdegree relatives (mean age 39.95±5.66, and 57 healthy (mean age 19.30±4.97 controls. Serum interferon alpha levels were significantly increased in childhood-onset systemic lupus erythematosus patients compared to their firstdegree relatives and healthy controls. Interferon alpha levels were significantly increased in patients with positive dsDNA antibodies, patients with cutaneous vasculitis, patients with new malar rash and patients who were not receiving medication. Interferon alpha levels correlated with C3 levels and systemic lupus erythematosus Disease Activity Index scores. In addition, we observed an inverse correlation between patient age and interferon alpha levels. CONCLUSION: Interferon alpha may play a role in the pathogenesis of childhood-onset systemic lupus erythematosus, especially in cutaneous manifestations and dsDNA antibody formation. The observation that interferon alpha levels are increased in patients who are not taking medication should be investigated in

  1. Clinics in diagnostic imaging (179). Severe rhabdomyolysis complicated by myonecrosis.

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    Kok, Shi Xian Shawn; Tan, Tien Jin

    2017-08-01

    A 32-year-old man presented to the emergency department with severe right lower limb pain and swelling of three days' duration. He had multiple prior admissions for recurrent seizures and suicide attempts. Markedly elevated serum creatine kinase levels and urine myoglobinuria were consistent with a diagnosis of rhabdomyolysis. Initial magnetic resonance imaging of the right lower limb revealed diffuse muscle oedema and features of myositis in the gluteal muscles and the adductor, anterior and posterior compartments of the thigh. Follow-up magnetic resonance imaging performed 11 days later showed interval development of areas of myonecrosis and haemorrhage. The causes, clinical presentation and imaging features of rhabdomyolysis are discussed. Copyright: © Singapore Medical Association.

  2. Osteogenesis imperfecta: clinical diagnosis, nomenclature and severity assessment.

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    Van Dijk, F S; Sillence, D O

    2014-06-01

    Recently, the genetic heterogeneity in osteogenesis imperfecta (OI), proposed in 1979 by Sillence et al., has been confirmed with molecular genetic studies. At present, 17 genetic causes of OI and closely related disorders have been identified and it is expected that more will follow. Unlike most reviews that have been published in the last decade on the genetic causes and biochemical processes leading to OI, this review focuses on the clinical classification of OI and elaborates on the newly proposed OI classification from 2010, which returned to a descriptive and numerical grouping of five OI syndromic groups. The new OI nomenclature and the pre-and postnatal severity assessment introduced in this review, emphasize the importance of phenotyping in order to diagnose, classify, and assess severity of OI. This will provide patients and their families with insight into the probable course of the disorder and it will allow physicians to evaluate the effect of therapy. A careful clinical description in combination with knowledge of the specific molecular genetic cause is the starting point for development and assessment of therapy in patients with heritable disorders including OI. © 2014 The Authors. American Journal of Medical Genetics Published by Wiley Periodicals, Inc. This is an open access article under the terms of the Creative Commons Attribution-NonCommercial-NoDerivs License, which permits use and distribution in any medium, provided the original work is properly cited, the use is non-commercial and no modifications or adaptations are made. © 2014 The Authors. American Journal of Medical Genetics Part A Published by Wiley Periodicals, Inc.

  3. 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.

  4. Clinical value of computerized tomography scanning in severe head injury

    International Nuclear Information System (INIS)

    Kobayashi, Shiro; Yano, Masami; Otsuka, Toshibumi; Nakazawa, Shozo

    1982-01-01

    Serial computerized tomography (SCT) was performed on 138 patients suffering from severe head injuries (8 or less on the Glasgow Coma Scale). Standard practice called for scans to be done upon admission (within hours of the injury), and after 1, 3, 7 days and 1 month. Subsequent CT's depended on the patient's condition. Clinical results at the time of discharge were graded according to the Glasgow Outcome Scale. Patients who died, were in a persistent vegetative state, or were severely disabled were considered to have a ''bad outcome''. On the other hand, patients who were somewhat disabled or made good recoveries were considered to have a ''good outcome''. During the serial CT scan, there were new findings (not visualized on the initial CT but appearing on subsequent ones) in 91 of the 138 patients. These new findings were classified as follows; 1) decreased density collection in the subdural space (DDC), 2) ventricular dilation (VD), 3) intracerebral hematoma (ICH), 4) intraventricular hemorrhage (IVH), 5) extracerebral hematoma (ECH), 6) edema (E), 7) infarction (I). We defined ICH, IVH, ECH, E and I as new lesions. Of the 60 patients with new lesions 12 had good outcomes and 48 had poor outcomes. There were 78 patients who did not have any new lesions, 60 with good outcomes and 18 with poor outcomes. A significant correlation was found between good outcomes and the absence of new lesions, and between bad outcomes and the development of new lesions (p 2 = 44.038). We conclude that SCT can help predict the outcome with severe head injury patients and may be very important in their examination and care. (J.P.N.)

  5. A study of clinical profile of vitamin B 12 deficiency with special reference to dermatologic manifestations in a Tertiary Care Hospital in sub-Himalayan Bengal

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    Kaushik Sen

    2015-01-01

    Full Text Available Background: Vitamin B 12 deficiency is thought to be uncommon in the eastern parts of India including Bengal and the eastern states as compared to the northern and southern parts of India. The importance of cutaneous features in relation to vitamin B 12 deficiency is not well described in literature. Aim: To know the clinical profile of vitamin B 12 deficiency in this region and to find out if there is any relationship between dermatologic manifestations with vitamin B 12 deficiency. Materials and Methods: All symptomatic patients of anemia requiring blood transfusions who had either raised mean corpuscular volume (MCV or bicytopenia/pancytopenia on complete blood count or were symptomatic in the form of skin hyperpigmentation were screened for vitamin B 12 deficiency. Results: Twenty-five patients were tested for vitamin B 12 deficiency. Of them 19 patients were found to be having vitamin B 12 deficiency. Conclusions: Vitamin B 12 deficiency is not uncommon in the eastern parts of India, contrasting the previous thoughts that it was uncommon in this area, though larger studies are required to know it better. This study included only those requiring blood transfusions, thus a much higher prevalence is expected in this area. Patients with vitamin B 12 deficiency do present with severe anemia requiring blood transfusions and often have skin hyperpigmentation.

  6. Severe scrub typhus infection: Clinical features, diagnostic challenges and management

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    Peter, John Victor; Sudarsan, Thomas I; Prakash, John Anthony J; Varghese, George M

    2015-01-01

    Scrub typhus infection is an important cause of acute undifferentiated fever in South East Asia. The clinical picture is characterized by sudden onset fever with chills and non-specific symptoms that include headache, myalgia, sweating and vomiting. The presence of an eschar, in about half the patients with proven scrub typhus infection and usually seen in the axilla, groin or inguinal region, is characteristic of scrub typhus. Common laboratory findings are elevated liver transaminases, thrombocytopenia and leukocytosis. About a third of patients admitted to hospital with scrub typhus infection have evidence of organ dysfunction that may include respiratory failure, circulatory shock, mild renal or hepatic dysfunction, central nervous system involvement or hematological abnormalities. Since the symptoms and signs are non-specific and resemble other tropical infections like malaria, enteric fever, dengue or leptospirosis, appropriate laboratory tests are necessary to confirm diagnosis. Serological assays are the mainstay of diagnosis as they are easy to perform; the reference test is the indirect immunofluorescence assay (IFA) for the detection of IgM antibodies. However in clinical practice, the enzyme-linked immuno-sorbent assay is done due to the ease of performing this test and a good sensitivity and sensitivity when compared with the IFA. Paired samples, obtained at least two weeks apart, demonstrating a ≥ 4 fold rise in titre, is necessary for confirmation of serologic diagnosis. The mainstay of treatment is the tetracycline group of antibiotics or chloramphenicol although macrolides are used alternatively. In mild cases, recovery is complete. In severe cases with multi-organ failure, mortality may be as high as 24%. PMID:26261776

  7. Severe hypertriglyceridemia in Norway: prevalence, clinical and genetic characteristics.

    Science.gov (United States)

    Retterstøl, Kjetil; Narverud, Ingunn; Selmer, Randi; Berge, Knut E; Osnes, Ingvild V; Ulven, Stine M; Halvorsen, Bente; Aukrust, Pål; Holven, Kirsten B; Iversen, Per O

    2017-06-12

    There is a lack of comprehensive patient-datasets regarding prevalence of severe hypertriglyceridemia (sHTG; triglycerides ≥10 mmol/L), frequency of co-morbidities, gene mutations, and gene characterization in sHTG. Using large surveys combined with detailed analysis of sub-cohorts of sHTG patients, we here sought to address these issues. We used data from several large Norwegian surveys that included 681,990 subjects, to estimate the prevalence. Sixty-five sHTG patients were investigated to obtain clinical profiles and candidate disease genes. We obtained peripheral blood mononuclear cells (PBMC) from six male patients and nine healthy controls and examined expression of mRNAs involved in lipid metabolism. The prevalence of sHTG was 0.13 (95% CI 0.12-0.14)%, and highest in men aged 40-49 years and in women 60-69 years. Among the 65 sHTG patients, a possible genetic cause was found in four and 11 had experienced acute pancreatitis. The mRNA expression levels of carnitine palmitoyltransferase (CPT)-1A, CPT2, and hormone-sensitive lipase, were significantly higher in patients compared to controls, whereas those of ATP-binding cassette, sub-family G, member 1 were significantly lower. In Norway, sHTG is present in 0.1%, carries considerable co-morbidity and is associated with an imbalance of genes involved in lipid metabolism, all potentially contributing to increased cardiovascular morbidity in sHTG.

  8. Gastric electrical stimulation for treatment of clinically severe gastroparesis

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    Naga Venkatesh G Jayanthi

    2013-01-01

    Full Text Available Background: Severe, drug-resistant gastroparesis is a debilitating condition. Several, but not all, patients can get significant relief from nausea and vomiting by gastric electrical stimulation (GES. A trial of temporary, endoscopically delivered GES may be of predictive value to select patients for laparoscopic-implantation of a permanent GES device. Materials and Methods: We conducted a clinical audit of consecutive gastroparesis patients, who had been selected for GES, from May 2008 to January 2012. Delayed gastric emptying was diagnosed by scintigraphy of ≥50% global improvement in symptom-severity and well-being was a good response. Results: There were 71 patients (51 women, 72% with a median age of 42 years (range: 14-69. The aetiology of gastroparesis was idiopathic (43 patients, 61%, diabetes (15, 21%, or post-surgical (anti-reflux surgery, 6 patients; Roux-en-Y gastric bypass, 3; subtotal gastrectomy, 1; cardiomyotomy, 1; other gastric surgery, 2 (18%. At presentation, oral nutrition was supplemented by naso-jejunal tube feeding in 7 patients, surgical jejunostomy in 8, or parenterally in 1 (total 16 patients; 22%. Previous intervention included endoscopic injection of botulinum toxin (botox into the pylorus in 16 patients (22%, pyloroplasty in 2, distal gastrectomy in 1, and gastrojejunostomy in 1. It was decided to directly proceed with permanent GES in 4 patients. Of the remaining, 51 patients have currently completed a trial of temporary stimulation and 39 (77% had a good response and were selected for permanent GES, which has been completed in 35 patients. Outcome data are currently available for 31 patients (idiopathic, 21 patients; diabetes, 3; post-surgical, 7 with a median follow-up period of 10 months (1-28; 22 patients (71% had a good response to permanent GES, these included 14 (68% with idiopathic, 5 (71% with post-surgical, and remaining 3 with diabetic gastroparesis. Conclusions: Overall, 71% of well-selected patients

  9. 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)

  10. 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

  11. 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

  12. MANAGEMENT OF ACUTE SEVERE ULCERATIVE COLITIS: A CLINICAL UPDATE.

    Science.gov (United States)

    Sobrado, Carlos Walter; Sobrado, Lucas Faraco

    2016-01-01

    Acute severe colitis is a potentially lethal medical emergency and, even today, its treatment remains a challenge for clinicians and surgeons. Intravenous corticoid therapy, which was introduced into the therapeutic arsenal in the 1950s, continues to be the first-line treatment and, for patients who are refractory to this, the rescue therapy may consist of clinical measures or emergency colectomy. To evaluate the indications for and results from drug rescue therapy (cyclosporine, infliximab and tacrolimus), and to suggest a practical guide for clinical approaches. The literature was reviewed using the Medline/PubMed, Cochrane library and SciELO databases, and additional information from institutional websites of interest, by cross-correlating the following keywords: acute severe colitis, fulminating colitis and treatment. Treatments for acute severe colitis have avoided colectomy in 60-70% of the cases, provided that they have been started early on, with multidisciplinary follow-up. Despite the adverse effects of intravenous cyclosporine, this drug has been indicated in cases of greater severity with an imminent risk of colectomy, because of its fast action, short half-life and absence of increased risk of surgical complications. Therapy using infliximab has been reserved for less severe cases and those in which immunosuppressants are being or have been used (AZA/6-MP). Indication of biological agents has recently been favored because of their ease of therapeutic use, their good short and medium-term results, the possibility of maintenance therapy and also their action as a "bridge" for immunosuppressant action (AZA/6-MP). Colectomy has been reserved for cases in which there is still no response five to seven days after rescue therapy and in cases of complications (toxic megacolon, profuse hemorrhage and perforation). Patients with a good response to rescue therapy who do not undergo emergency operations should be considered for maintenance therapy using

  13. 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...

  14. 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...... 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...

  15. Clinical experience with Omalizumab in a Portuguese severe asthma unit

    Directory of Open Access Journals (Sweden)

    S. Alfarroba

    2014-03-01

    Full Text Available Background: It is widely recognized that asthma control is not always possible in patients with very severe asthma despite available treatment. The aim of this study was to evaluate the efficacy of Omalizumab on asthma control as an add‐on therapy in patients from the “Severe Asthma Outpatient Service” of Pulido Valente Hospital in Lisbon, Portugal. Methods: A retrospective study was conducted to assess asthma control by the ACT score and by GINA classification, frequency and severity of exacerbations, medication use and pulmonary function in patients treated with Omalizumab. Clinical information was collected from medical records from the start of treatment and at 6‐, 12‐ and 24‐month follow‐ups. Results: 26 patients started the treatment with Omalizumab, and all (100% were classified by GINA with uncontrolled asthma prior to treatment. Mean ACT score was 11.5. All the patients had treatment with fixed‐dose ICS and LABA and 34.6% also had an anti‐cholinergic inhaler. 42.3% of patients were also treated with oral glucocorticosteroids for control. Patients reported an average of 1.8 moderate and 3.1 severe exacerbations/year. Statistical differences were found at 6‐month follow‐up in most end‐points: GINA score improved: 60.9% of patients with partially controlled asthma and only 39.1% with uncontrolled asthma (Wilcoxon 0.00; ACT score improved to 19.52 (Wilcoxon 0.00; mean FEV1 improved to 76.7% (Wilcoxon 0.025; the proportion of patients requiring oral glucocorticosteroid therapy reduced to 17.4% (Wilcoxon 0.014; and the number of moderate and severe exacerbations also decreased to 1.04 and 1.83 respectively (Wilcoxon 0.007; Wilcoxon 0.002 respectively. Conclusions: The current analysis shows evidence that omalizumab is successful in improving asthma control as an add‐on therapy GINA step 5 treatment. Resumo: Introdução: Está bem documentado que o controlo de asma nem

  16. 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

  17. 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

  18. 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

  19. Clinical features of severe wasp sting patients with dominantly toxic reaction: analysis of 1091 cases.

    Directory of Open Access Journals (Sweden)

    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.

  20. 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.

  1. Evaluating the clinical management of severely malnourished children

    African Journals Online (AJOL)

    To assess the management of severely malnourished children in two rural district hospitals and to recommend improvements for their care. Methods. Based on draft World Health Organisation (WHO) guidelines for inpatient care of children with severe malnutrition, data collection instruments were developed in conjunction ...

  2. 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.

  3. 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

  4. A severe form of Crouzon's Syndrome: clinical and radiological correlation

    International Nuclear Information System (INIS)

    Abdallah, Ahmad M.

    2003-01-01

    Craniofacial dysostosis (Crouzon's syndrome) is a well defined, dominantly inherited disorder, described by Crouzon in 1912. It is characterized by several deformities involving the skull,face and eyes. This case report details a rare form of Crouzon's syndrome in which proptosis was so severe that globes were completely proptotic outside the patient's extremely shallow orbits, and the eyelids were undeveloped bilaterally and replaced by small folds of skin. It appears that this is the first report of such a severe form of Crouzon's syndrome. (author)

  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. ACUTE KIDNEY INJURY CAUSED BY Crotalus AND Bothrops SNAKE VENOM: A REVIEW OF EPIDEMIOLOGY, CLINICAL MANIFESTATIONS AND TREATMENT

    Directory of Open Access Journals (Sweden)

    Polianna L.M.M. Albuquerque

    2013-09-01

    Full Text Available SUMMARY Ophidic accidents are an important public health problem due to their incidence, morbidity and mortality. An increasing number of cases have been registered in Brazil in the last few years. Several studies point to the importance of knowing the clinical complications and adequate approach in these accidents. However, knowledge about the risk factors is not enough and there are an increasing number of deaths due to these accidents in Brazil. In this context, acute kidney injury (AKI appears as one of the main causes of death and consequences for these victims, which are mainly young males working in rural areas. Snakes of the Bothrops and Crotalus genera are the main responsible for renal involvement in ophidic accidents in South America. The present study is a literature review of AKI caused by Bothrops and Crotalus snake venom regarding diverse characteristics, emphasizing the most appropriate therapeutic approach for these cases. Recent studies have been carried out searching for complementary therapies for the treatment of ophidic accidents, including the use of lipoic acid, simvastatin and allopurinol. Some plants, such as Apocynaceae, Lamiaceae and Rubiaceae seem to have a beneficial role in the treatment of this type of envenomation. Future studies will certainly find new therapeutic measures for ophidic accidents.

  7. ACUTE KIDNEY INJURY CAUSED BY Crotalus AND Bothrops SNAKE VENOM: A REVIEW OF EPIDEMIOLOGY, CLINICAL MANIFESTATIONS AND TREATMENT

    Science.gov (United States)

    Albuquerque, Polianna L.M.M.; Jacinto, Camilla N.; Silva, Geraldo B.; Lima, Juliana B.; Veras, Maria do Socorro B.; Daher, Elizabeth F.

    2013-01-01

    SUMMARY Ophidic accidents are an important public health problem due to their incidence, morbidity and mortality. An increasing number of cases have been registered in Brazil in the last few years. Several studies point to the importance of knowing the clinical complications and adequate approach in these accidents. However, knowledge about the risk factors is not enough and there are an increasing number of deaths due to these accidents in Brazil. In this context, acute kidney injury (AKI) appears as one of the main causes of death and consequences for these victims, which are mainly young males working in rural areas. Snakes of the Bothrops and Crotalus genera are the main responsible for renal involvement in ophidic accidents in South America. The present study is a literature review of AKI caused by Bothrops and Crotalus snake venom regarding diverse characteristics, emphasizing the most appropriate therapeutic approach for these cases. Recent studies have been carried out searching for complementary therapies for the treatment of ophidic accidents, including the use of lipoic acid, simvastatin and allopurinol. Some plants, such as Apocynaceae, Lamiaceae and Rubiaceae seem to have a beneficial role in the treatment of this type of envenomation. Future studies will certainly find new therapeutic measures for ophidic accidents. PMID:24037282

  8. Malfunction of nuclease ERCC1-XPF results in diverse clinical manifestations and causes Cockayne syndrome, xeroderma pigmentosum, and Fanconi anemia.

    Science.gov (United States)

    Kashiyama, Kazuya; Nakazawa, Yuka; Pilz, Daniela T; Guo, Chaowan; Shimada, Mayuko; Sasaki, Kensaku; Fawcett, Heather; Wing, Jonathan F; Lewin, Susan O; Carr, Lucinda; Li, Tao-Sheng; Yoshiura, Koh-ichiro; Utani, Atsushi; Hirano, Akiyoshi; Yamashita, Shunichi; Greenblatt, Danielle; Nardo, Tiziana; Stefanini, Miria; McGibbon, David; Sarkany, Robert; Fassihi, Hiva; Takahashi, Yoshito; Nagayama, Yuji; Mitsutake, Norisato; Lehmann, Alan R; Ogi, Tomoo

    2013-05-02

    Cockayne syndrome (CS) is a genetic disorder characterized by developmental abnormalities and photodermatosis resulting from the lack of transcription-coupled nucleotide excision repair, which is responsible for the removal of photodamage from actively transcribed genes. To date, all identified causative mutations for CS have been in the two known CS-associated genes, ERCC8 (CSA) and ERCC6 (CSB). For the rare combined xeroderma pigmentosum (XP) and CS phenotype, all identified mutations are in three of the XP-associated genes, ERCC3 (XPB), ERCC2 (XPD), and ERCC5 (XPG). In a previous report, we identified several CS cases who did not have mutations in any of these genes. In this paper, we describe three CS individuals deficient in ERCC1 or ERCC4 (XPF). Remarkably, one of these individuals with XP complementation group F (XP-F) had clinical features of three different DNA-repair disorders--CS, XP, and Fanconi anemia (FA). Our results, together with those from Bogliolo et al., who describe XPF alterations resulting in FA alone, indicate a multifunctional role for XPF. Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.

  9. 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

  10. Clinical Profile and Predictors of Severe Illness in young South ...

    African Journals Online (AJOL)

    Background. Most childhood deaths occur within the first 2 months of life. Simple symptoms and signs that reliably indicate the presence of severe illness that would warrant urgent hospital management are of major public health importance. Objectives. To describe the disease profile of sick young infants aged 0 - 59 days ...

  11. Incremental value of a genetic risk score for the prediction of new vascular events in patients with clinically manifest vascular disease.

    Science.gov (United States)

    Weijmans, Maaike; de Bakker, Paul I W; van der Graaf, Yolanda; Asselbergs, Folkert W; Algra, Ale; Jan de Borst, Gert; Spiering, Wilko; Visseren, Frank L J

    2015-04-01

    Several genetic markers are related to incidence of cardiovascular events. We evaluated whether a genetic risk score (GRS) based on 30 single-nucleotide-polymorphisms associated with coronary artery disease (CAD) can improve prediction of 10-year risk of new cardiovascular events in patients with clinical manifest vascular disease. In 5742 patients with symptomatic vascular disease enrolled in the SMART study, we developed Cox regression models based on the SMART Risk Score (SRS) and based on the SRS plus the GRS in all patients, in patients with a history of acute arterial thrombotic events and in patients with a history of more stable atherosclerosis and without CAD. The discriminatory ability was expressed by the c-statistic. Model calibration was evaluated by calibration plots. The incremental value of adding the GRS was assessed by net reclassification index (NRI) and decision curve analysis. During a median follow-up of 6.5 years (IQR4.0-9.5), the composite outcome of myocardial infarction, stroke, or vascular death occurred in 933 patients. Hazard ratios of GRS ranging from 0.86 to 1.35 were observed. The discriminatory capacity of the SRS for prediction of 10-year risk of cardiovascular events was fairly good (c-statistic 0.70, 95%CI 0.68-0.72), similar to the model based on the SRS plus the GRS. Calibration of the models based on SRS and SRS plus GRS was adequate. No increase in c-statistics, categorical NRIs and decision curves was observed when adding the GRS. The continuous NRI improved only in patients with stable atherosclerosis (0.14, 95%CI 0.03-0.25), increasing further excluding patients with a history of CAD (0.21, 95%CI 0.06-0.36). In patients with symptomatic vascular disease, a GRS did not improve risk prediction of 10-year risk of cardiovascular events beyond clinical characteristics. The GRS might improve risk prediction of first vascular events in the subgroup of patients with a history of stable atherosclerosis. Copyright © 2015 Elsevier

  12. Brain single-photon emission tomography with {sup 99m}Tc-HMPAO in neuropsychiatric systemic lupus erythematosus: relations with EEG and MRI findings and clinical manifestations

    Energy Technology Data Exchange (ETDEWEB)

    Colamussi, P. [Dept. of Nuclear Medicine, Univ. of Ferrara (Italy); Giganti, M. [Dept. of Nuclear Medicine, Univ. of Ferrara (Italy); Cittanti, C. [Dept. of Nuclear Medicine, Univ. of Ferrara (Italy); Dovigo, L. [Inst. of Neurology, Univ. of Ferrara (Italy); Trotta, F. [Inst. of Neurology, Univ. of Ferrara (Italy); Tola, M.R. [Div. of Rheumatology, S. Anna Hospital, Ferrara (Italy); Tamarozzi, R. [Radiology Dept., S. Anna Hospital, Ferrara (Italy); Lucignani, G. [INB-CNR Dept. of Nuclear Medicine, H.S. Raffaele, Milan (Italy); Piffanelli, A. [Dept. of Nuclear Medicine, Univ. of Ferrara (Italy)

    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. 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.)

  14. 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.

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

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    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.

  16. 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

  17. Relación entre la severidad de las manifestaciones de asma bronquial y el cumplimiento del tratamiento intercrisis Relation between the severity of bronchial asthma manifestations and the fulfilment of the inter-crisis treatment

    Directory of Open Access Journals (Sweden)

    Tatiana de la Vega Pazitková

    2011-09-01

    Full Text Available INTRODUCCIÓN: En la última década han aumentado la morbilidad y la mortalidad por asma bronquial. Se estima que esta enfermedad la padecen actualmente 300 millones de personas en el mundo. En Cuba, el asma bronquial constituye también un importante problema de salud. OBJETIVO: Establecer la relación entre el cumplimiento del tratamiento en periodos intercrisis y la severidad de las manifestaciones clínicas de la enfermedad. MÉTODOS: Se estudiaron 119 pacientes con diagnóstico de asma bronquial pertenecientes al policlínico "Ana Betancourt". Para la recolección de datos se aplicaron cuestionarios de forma individual a los pacientes o a los familiares que están directamente al cuidado de estos. Los pacientes fueron agrupados según la Guía española para el manejo del asma de 2009. RESULTADOS: Se detectaron 23 pacientes asmáticos intermitentes, 42 persistentes leves, 36 persistentes moderados y 18 persistentes graves. El 95 % de los pacientes estudiados desencadenaba la crisis con inhalantes respiratorios. En el 79 % de los hogares se detectó la presencia de fumadores. Solo el 41 % de los pacientes cumplía el tratamiento correctamente en los periodos intercrisis. CONCLUSIONES: Existe una relación directa entre la severidad de las manifestaciones clínicas del asma bronquial y el no cumplimiento del tratamiento intercrisis, lo que puede condicionar la exacerbación de la enfermedad.INTRODUCTION: In past decade the morbidity and mortality from bronchial asthma have increased. This is a diseased suffered nowadays by 300 millions of persons in the world. In Cuba, the bronchial asthma is also an important health problem. OBJECTIVE: To establish the relation between the fulfilment of treatment in inter-crisis period and the severity of the clinical manifestations of this entity. METHODS: A total of 119 patients diagnosed with bronchial asthma from the "Ana Betancourt" Polyclinic were studied. In data collection authors applied individual

  18. Clinical Manifestations of Herpes Zoster, Its Comorbidities, and Its Complications in North of Iran from 2007 to 2013

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    Farhang Babamahmoodi

    2015-01-01

    Full Text Available Background. Herpes zoster infection is a painful worldwide disease. Inappropriate and delayed treatment causes prolongation of the disease with debilitating symptoms and postherpetic neuralgia. Method. A cross-sectional study evaluated shingles cases admitted in a teaching hospital with one-year followup in north of Iran from 2007 to 2013. Results. From 132 patients, 60.4% were male. Head and neck involvement occurred in 78 people (59.1%, thoracoabdominal region in 37 cases (28%, and extremities in 16 cases (12.1%, and one case (0.8% got multisites involvement. 54 cases (40.9% had predisposing factors including diabetes mellitus in 26 cases (19.7%, malignancy in 15 (11.4%, immunosuppressive medication in 7 (5.03%, HIV infection in 3 (2.3%, radiotherapy in 2 (1.5%, and tuberculosis in one patient (0.8%. The most common symptoms were pain (95.5%, weakness (56%, fever (31.1%, headache (30.3%, ocular complaints (27.3%, itching (24.2%, and dizziness (5.3%. 21 cases (15.9% had bacterial superinfection on blistering areas and overall 18 cases (13.6% had opium addiction. 4 cases (3.03% died during admission because of comorbidities. Postherpetic neuralgia was reported in 56 patients (42.5% after three months and seven cases (5% in one-year followup. Conclusion. Shortening interval between skin lesion manifestation and starting medication can accelerate lesion improvement and decrease disease course, extension, and complication.

  19. Manifestaciones clínicas de la retinosis pigmentaria recesiva ligada al sexo en una portadora Clinical manifestations of recessive retinitis pigmentosa linked to sex in a carrier

    Directory of Open Access Journals (Sweden)

    Elisa Dyce Gordon

    2001-06-01

    Full Text Available Se presenta el caso de una portadora del gen mutante causante de la retinosis pigmentaria con herencia recesiva ligada al sexo con un cuadro clínico típico de la enfermedad, de inicio tardío y marcada asimetría de las manifestaciones oftalmológicas entre ambos ojos. Se expone la hipótesis de Lyon para explicar la ocurrencia de este hecho. Se concluye que las heterocigotas pueden manifestarse clínicamente al igual que los varones hemicigotos, por lo que a todas se les debe realizar estudio oftalmológico minucioso para confirmar el estado de portadora, así como para iniciar tratamiento adecuado, de ser necesario.The case of a carrier of the mutant gene causing retinitis pigmentosa with recessive heredity linked to sex with a typical clinical picture of late onset disease and marked assimetry of ophthalmological manifestations between both eyes is presented. Lyon's hypothesis is used to explain the occurrence of this event. It is concluded that heterozygote females may have the same clinical manifestations as hemizigote males. That's why, an ophthalmologic thorough study should be conducted to confirm the state of the carrier as well as to initiate an adequate treatment, if necessary.

  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. Cognitive flexibility and clinical severity in eating disorders.

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    Kate Tchanturia

    Full Text Available OBJECTIVES: The aim of this study was to explore cognitive flexibility in a large dataset of people with Eating Disorders and Healthy Controls (HC and to see how patient characteristics (body mass index [BMI] and length of illness are related to this thinking style. METHODS: A dataset was constructed from our previous studies using a conceptual shift test--the Brixton Spatial Anticipation Test. 601 participants were included, 215 patients with Anorexia Nervosa (AN (96 inpatients; 119 outpatients, 69 patients with Bulimia Nervosa (BN, 29 Eating Disorder Not Otherwise Specified (EDNOS, 72 in long-term recovery from AN (Rec AN and a comparison group of 216 HC. RESULTS: The AN and EDNOS groups had significantly more errors than the other groups on the Brixton Test. In comparison to the HC group, the effect size decrement was large for AN patients receiving inpatient treatment and moderate for AN outpatients. CONCLUSIONS: These findings confirm that patients with AN have poor cognitive flexibility. Severity of illness measured by length of illness does not fully explain the lack of flexibility and supports the trait nature of inflexibility in people with AN.

  2. Cognitive Flexibility and Clinical Severity in Eating Disorders

    Science.gov (United States)

    Tchanturia, Kate; Harrison, Amy; Davies, Helen; Roberts, Marion; Oldershaw, Anna; Nakazato, Michiko; Stahl, Daniel; Morris, Robin

    2011-01-01

    Objectives The aim of this study was to explore cognitive flexibility in a large dataset of people with Eating Disorders and Healthy Controls (HC) and to see how patient characteristics (body mass index [BMI] and length of illness) are related to this thinking style. Methods A dataset was constructed from our previous studies using a conceptual shift test - the Brixton Spatial Anticipation Test. 601 participants were included, 215 patients with Anorexia Nervosa (AN) (96 inpatients; 119 outpatients), 69 patients with Bulimia Nervosa (BN), 29 Eating Disorder Not Otherwise Specified (EDNOS), 72 in long-term recovery from AN (Rec AN) and a comparison group of 216 HC. Results The AN and EDNOS groups had significantly more errors than the other groups on the Brixton Test. In comparison to the HC group, the effect size decrement was large for AN patients receiving inpatient treatment and moderate for AN outpatients. Conclusions These findings confirm that patients with AN have poor cognitive flexibility. Severity of illness measured by length of illness does not fully explain the lack of flexibility and supports the trait nature of inflexibility in people with AN. PMID:21698277

  3. Pleural effusion as the initial manifestation of chronic myeloid leukemia: Report of a case with clinical and cytologic correlation

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    Paras Nuwal

    2012-01-01

    Full Text Available Pleural effusion in patients with chronic myeloid leukemia (CML is very rare and poorly understood. We report here a 26-year-old male patient having CML and presenting with pleural effusion as the first clinical sign. The possible mechanism of pleural effusion in CML, the cytological interpretive problem and the clinical significance of finding immature leucocytes in pleural fluid are also briefly discussed.

  4. [Clinical and biological monitoring of nutritional status in severe burns].

    Science.gov (United States)

    Bargues, L; Cottez-Gacia, S; Jault, P; Renard, C; Vest, P

    2009-01-01

    Burn patients are subject to hypermetabolism and catabolic states. Aim was to evaluate our current practice in nutrition. Twenty-one severely burned patients were prospectively included during three months period. Body weight was measured at least two times in a week during all stay in burn ICU. Biological markers of inflammation (C-reactive protein, CRP) and nutrition (prealbumin) were performed weekly. Protocol included early nasogastric feeding, tolerated gastric stasis less than 250 mL at four hours nasogastric aspirations, caloric target value of 40 Kcal/kg per day and measurement of total daily calorie intakes. Patient demographics showed a mean percent total body surface burn of 51.1+/-27 % (range 20-90), age of 38.7+/-13.1 years (range 18-67) and 57.3 % of smoke inhalation. All patients were ventilated and 19 patients survived. Length of stay was 75.7+/-47 days (range 22-184). Patients received only 58.9+/-10 % of calorie intakes recommended by French burn society. Loss of body mass was 15.2+/-9 kg (range 3-31) or 19.1+/-10 % of admission weight (range 5-37). Erosion of body mass was not correlated with burned surface (p=0.08), calorie intakes (p=0.26), smoke inhalation (p=0.46), lengths of stay (p=0.53), lengths of ventilation (p=0.08) or nutrition (p=0.12), days of antibiotic (p=0.72), number of dressing changes (p=0.6) or surgery (p=0.64). Biological parameters showed CRP decreasing and prealbumin improving values. New strategies of nutrition are necessary to improve outcome and reduce body mass loss in burns.

  5. Clinical manifestations of combined methamphetamine with morphine and their effects on brain dopamine and 5-hydroxytryptamine release in mice

    Directory of Open Access Journals (Sweden)

    Shing-Hwa Liu

    2015-01-01

    Full Text Available Background: Methamphetamine (MA is often mixed with morphine by polydrug addicts, and polydrug abuse has become a serious health problem worldwide. The purpose of this study was to investigate the major signs and symptoms of combined MA and morphine abuse in the Emergency Department (ED. In addition, we used a mouse model to study their effects on the release of dopamine (DA and 5-hydroxytryptamine (5-HT in the central nervous system. Materials and Methods: Seventy-two patients with combined MA and morphine abuse were collected during a 3-year period, and their medical records were reviewed. Mice were intraperitoneally administered MA (0.75 and 2.5 mg/kg/day and morphine (5 mg/kg/day either alone or in combination for 5 consecutive days. The mechanisms underlying the interaction between MA and morphine were explored by measuring the extracellular levels of DA and 5-HT in the shell of the nucleus accumbens using an in vivo microdialysis technique. Results: The most common manifestations of combined MA and morphine abuse included tachypnea, tachycardia, confusion, anxiety, delirium, insomnia, and diaphoresis in the ED. Of those, 25% of acute intoxication required hospitalization for intensive care. The group of mice treated with a combination of MA and morphine had higher concentrations of DA and 5-HT in the accumbens than with either drug alone. Conclusion: These findings suggest that MA pharmacologically interacts with morphine to induce characteristic signs and symptoms. Our preclinical results also implicate the involvement of increased DAergic and 5-HTergic neurotransmission among polydrug abusers with a combination of MA and morphine.

  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. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-04-28

    Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  8. Clinical Course, Radiological Manifestations, and Outcome of Pneumocystis jirovecii Pneumonia in HIV Patients and Renal Transplant Recipients.

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    Lukas Ebner

    Full Text Available Pneumocystis jirovecii pneumonia (PCP is a frequent opportunistic infection in immunocompromised patients. In literature, presentation and outcome of PCP differs between patients with human immunodeficiency virus (HIV infection and renal transplant recipients (RTRs.We conducted a cross-sectional study of patients with PCP based on the HIV and renal transplant registries at our institution. Radiological and clinical data from all confirmed PCP cases between 2005 and 2012 were compared.Forty patients were included: 16 with HIV and 24 RTRs. Radiologically, HIV patients had significantly more areas of diffuse lung affection (81% HIV vs. 25% RTR; p = 0.02, more ground glass nodules 5-10 mm (69% vs. 4%; p = 80% in both groups. Duration from illness onset to hospital presentation was longer in the HIV patients (median of 18 vs. 10 days (p = 0.02, implying a less fulminant clinical course. Sixty percent of PCP cases in RTRs occurred >12 months after transplantation. Lengths of hospitalization, admission rates to the intensive care unit, and requirements for mechanical ventilation were similar. Outcome in both groups was favourable.While important differences in radiological presentation of PCP between HIV patients and RTRs were found, clinical presentation was similar. PCP only rarely presented with fulminant respiratory symptoms requiring ICU admission, with similar results and outcomes for HIV patients and RTRs. Early diagnosis and treatment is mandatory for clinical success.

  9. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2012-02-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  10. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes

    Directory of Open Access Journals (Sweden)

    Lee Byung I

    2010-04-01

    Full Text Available Abstract Background The encephalopathy associated with autoimmune thyroid disease (EAATD is characterized by neurological/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto's thyroiditis (HT, although fourteen EAATD patients with Graves' disease (GD have been also reported. Methods We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. Results Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. Conclusions GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  11. Encephalopathy associated with autoimmune thyroid disease in patients with Graves' disease: clinical manifestations, follow-up, and outcomes.

    LENUS (Irish Health Repository)

    Tamagno, Gianluca

    2010-01-01

    BACKGROUND: The encephalopathy associated with autoimmune thyroid disease (EAATD) is characterized by neurological\\/psychiatric symptoms, high levels of anti-thyroid antibodies, increased cerebrospinal fluid protein concentration, non-specific electroencephalogram abnormalities, and responsiveness to the corticosteroid treatment in patients with an autoimmune thyroid disease. Almost all EAATD patients are affected by Hashimoto\\'s thyroiditis (HT), although fourteen EAATD patients with Graves\\' disease (GD) have been also reported. METHODS: We have recorded and analyzed the clinical, biological, radiological, and electrophysiological findings and the data on the therapeutic management of all GD patients with EAATD reported so far as well as the clinical outcomes in those followed-up in the long term. RESULTS: Twelve of the fourteen patients with EAATD and GD were women. The majority of GD patients with EAATD presented with mild hyperthyroidism at EAATD onset or shortly before it. Active anti-thyroid autoimmunity was detected in all cases. Most of the patients dramatically responded to corticosteroids. The long term clinical outcome was benign but EAATD can relapse, especially at the time of corticosteroid dose tapering or withdrawal. GD and HT patients with EAATD present with a similar clinical, biological, radiological, and electrophysiological picture and require an unaffected EAATD management. CONCLUSIONS: GD and HT equally represent the possible background condition for the development of EAATD, which should be considered in the differential diagnosis of all patients with encephalopathy of unknown origin and an autoimmune thyroid disease, regardless of the nature of the underlying autoimmune thyroid disease.

  12. Disturbance of inorganic phosphate metabolism in diabetes mellitus: clinical manifestations of phosphorus-depletion syndrome during recovery from diabetic ketoacidosis

    Directory of Open Access Journals (Sweden)

    Lervang H

    2010-09-01

    Full Text Available Jørn Ditzel, Hans-Henrik LervangDepartment of Endocrinology, and Center for Prevention of Struma and Metabolic Diseases, Aalborg University Hospital, Aarhus University, DenmarkAbstract: The acute effects of intracellular phosphate depletion and hypophosphatemia on organs and tissues in and during recovery from diabetic ketoacidosis (DKA have been reviewed. When insufficient phosphate and/or oxygen are available for high energy phosphate synthesis, cell homeostasis cannot be maintained and cell integrity may be impaired. The clinical consequences are recognized as occasional cause of morbidity and mortality. Although phosphate repletion has not been routinely recommended in the treatment of DKA, physicians should be aware of these clinical conditions and phosphate repletion in such situations should be considered.Keywords: high energy phosphates, hypoxia, fructose 1,6-diphosphate

  13. Effect of Statin Therapy on Incident Type 2 Diabetes Mellitus in Patients With Clinically Manifest Vascular Disease

    NARCIS (Netherlands)

    Van De Woestijne, Anton P.; Van Der Graaf, Yolanda; Westerink, Jan; Nathoe, Hendrik M.; Visseren, Frank L J

    2015-01-01

    Several trials and cohort studies have shown an increased incidence of type 2 diabetes mellitus (T2DM) in patients using statins. Whether this only applies to patients at already high risk for the development of T2DM or for all patients is still a matter of debate. In the present prospective cohort

  14. Compatibility of Clinical Manifestation with Skin Prick Test Result and Food Provocation Test in Food Cross Reaction

    OpenAIRE

    Lubis, Azwin; Barlianto, Wisnu; Endaryanto, Anang; Harsono, Ariyanto

    2017-01-01

    Background: Subjective diagnostic test of food allergy is hugely biased, resulting in irrational diet avoidance. Additional objective tools by skin prick test following food provocation test resulting more accurate cause and prevalence on population. Purpose: To evaluate the compatibility of clinical symptoms with skin prick test and provocation test for imunoglobulin E (IgE) mediated food allergy in Dr. Soetomo Hospital Surabaya. Methods: Cross sectional observational analytic study. Patient...

  15. Interstitial keratitis and sensorineural hearing loss as a manifestation of rheumatoid arthritis: clinical lessons from a rare complication

    Science.gov (United States)

    Lee, Lennard YW; Akhtar, Mohammed Majid; Kirresh, Othman; Gibson, Terence

    2012-01-01

    Cogan's syndrome or non-syphilitic interstitial keratitis with vestibule-auditory dysfunction is a serious and under-recognised complication of rheumatoid arthritis. It is an autoimmune condition characterised by inflammatory infiltrates on the cornea and extensive vestibulocochlear damage. If left untreated, patients progress to develop profound hearing loss. We present a case that was incorrectly diagnosed and treated as conjunctivitis by several emergency departments prior to being correctly recognised as Cogan's syndrome. PMID:23242087

  16. Interstitial keratitis and sensorineural hearing loss as a manifestation of rheumatoid arthritis: clinical lessons from a rare complication

    OpenAIRE

    Lee, Lennard YW; Akhtar, Mohammed Majid; Kirresh, Othman; Gibson, Terence

    2012-01-01

    Cogan's syndrome or non-syphilitic interstitial keratitis with vestibule-auditory dysfunction is a serious and under-recognised complication of rheumatoid arthritis. It is an autoimmune condition characterised by inflammatory infiltrates on the cornea and extensive vestibulocochlear damage. If left untreated, patients progress to develop profound hearing loss. We present a case that was incorrectly diagnosed and treated as conjunctivitis by several emergency departments prior to being correct...

  17. [Prognostic implications of extra-hepatic clinical manifestations, autoimmunity and microscopic nail capillaroscopy in patients with primary biliary cirrhosis].

    Science.gov (United States)

    Marí-Alfonso, Begoña; Amengual-Guedan, María José; Vergara-Gómez, Mercè; Simeón-Aznar, Carmen Pilar; Fonollosa-Plà, Vicente; Jove-Buxeda, Esther; Oliva-Morera, Juan; Tolosa-Vilella, Carles

    2016-01-01

    Primary biliary cirrhosis (PBC) is associated to any systemic autoimmune disease (SAD), in particular systemic sclerosis (SSc). To investigate the prevalence of SAD in a cohort of patients with PBC, specifically the prevalence of SSc and its clinical subtypes, and determining the clinical and biological profile of patients with associated PBC and SSc. Observational study of 62 patients with PBC following a protocol that included an anamnesis and physical examination to detect the presence of SAD as well as a nailfold capillaroscopy and an immunological study with specific SSc autoantibodies. A comparative analysis was conducted between patients with isolated PBC and patients with PBC and an associated SAD. SAD was associated to PBC in 22 patients (35,4%), and SSc was the most frequent illness, identified in 13 cases (21%). Five patients (8%) without previous diagnosis of SAD fulfilled pre-scleroderma criteria, according to LeRoy and Medsger criteria. The presence of anticentromere antibodies (54,5% vs. 5%, P<.001) was the unique immunological determination identified more frequently in patients with PBC-SAD. The SSc suggestive capillary pattern was visualized in 11 patients (20,4%), mainly the slow pattern. No factors associated with greater morbi-mortality were identified in the PBC-SAD group. It does exist a subgroup of patients with PBC and clinical-biological features suggestive of an SAD, which advise a protocolized study to detect early the association to an SAD. Copyright © 2015 Elsevier España, S.L.U. All rights reserved.

  18. 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....

  19. High prevalence of rheumatoid factor associated with clinical manifestations of rheumatic disease in Kaingang and Guarani Indians from Southern Brazil.

    Science.gov (United States)

    Ribas, João Luiz Coelho; Utiyama, Shirley Ramos da Rosa; Nisihara, Renato Mitsunori; Boeira, Maristela; Reason, Iara Taborda de Messias

    2009-02-01

    The aim of the present study was to perform a screening for rheumatoid factor (RF) and anti-nuclear antibody in Kaingang, Guarani and Mestizos individuals from Mangueirinha Reservation, State of Paraná, Brazil, and associate it with demographic and clinical data. Serum samples from 321 aborigines (125 male and 196 female; 4-86 years old) and 180 non-Indians healthy individuals were analysed (62 male and 118 female; 2-81 years old). Antinuclear antibody (ANA) was tested by indirect immunofluorescence, and RF by agglutination in latex and turbidimetry. RF was higher in Kaingang when compared to Guarani (P = 0.009), Mestizos (P = 0.061) and non-Indians (P = 0.010). A significant increase of RF was observed in Kaingang women versus Kaingang men (P = 0.002) and, among the women, in Kaingang when compared to Mestizos and Guarani (P Clinical evaluation of RF positive individuals (n = 6) confirmed rheumatoid arthritis in two Kaingang Indians. Other two individuals (RF positive) will be under medical observation, as well as two Mestizos. The differences observed among the investigated groups, suggest the influence of genetic and hormonal factors in the development of auto antibodies in these populations.

  20. Clinical and radiological pictures of two newborn babies with manifestations of chondrodysplasia punctata and review of available literature

    International Nuclear Information System (INIS)

    Jurkiewicz, Elżbieta; Marcinska, Beata; Bothur-Nowacka, Joanna; Dobrzanska, Anna

    2013-01-01

    Chondrodysplasia punctata (CDP) is a rare, heterogeneous congenital skeletal dysplasia, characterized by punctate or dot-like calcium deposits in cartilage observed on neonatal radiograms. A number of inborn metabolic diseases are associated with CDP, including peroxisomal and cholesterol biosynthesis dysfunction and other inborn errors of metabolism such as: mucolipidosis type II, mucopolysacharidosis type III, GM1 gangliosidosis. CDP is also related to disruption of vitamin K-dependent metabolism, causing secondary effects on the embryo, as well as fetal alcohol syndrome (FAS), chromosomal abnormalities that include trisomies 18 and 21, Turner syndrome. This article presents clinical data and diagnostic imaging findings of two newborn babies with chondrodysplasia punctata. Children presented with skeletal and cartilage anomalies, dysmorphic facial feature, muscles tone abnormalities, skin changes and breathing difficulties. One of the patients demonstrated critical stenosis of spinal canal with anterior subluxation of C1 vertebra relative to C2. The aim of this article is to present cases and briefly describe current knowledge on etiopathogenesis as well as radiological and clinical symptoms of diseases coexisting with CDP. Radiological diagnostic imaging allows for visualization of punctate focal mineralization in bone epiphyses during neonatal age and infancy. Determining the etiology of chondrodysplasia punctata requires performing various basic as well as additional examinations, including genetic studies

  1. 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....

  2. Report of two patients with Paget′s disease - one with typical clinical and radiological manifestations including cardiac involvement and the other subclinical but with radiological changes

    Directory of Open Access Journals (Sweden)

    B Sivapatha Sundharam

    2006-01-01

    Full Text Available Osteitis deformans or Paget′s disease of bone, fondly referred to as the ′collage of matrix madness′, is a unique skeletal disease characterized by furious osteoclastic bone resorption followed by a period of hectic bone formation, resulting in again in the bone mass wherein the newly formed bone is disordered and architecturally unsound. A disease of obscure etiology, it usually manifests as progressive enlargement of one or multiple bones of the skeleton. Herewith we present a typical example of a polyostotic form of Paget′s disease with classical clinical features and radiologic changes in one patient and a subclinical form of Paget′s disease with marked radiological changes in the other patient.

  3. Clinical manifestations in patients with computerized tomography diagnosis of neurocysticercosis; Manifestacoes clinicas de pacientes com diagnostico de neurocisticercose por tomografia computadorizada

    Energy Technology Data Exchange (ETDEWEB)

    Pfuetzenreiter, Marcia Regina [Universidade do Estado de Santa Catarina (UDESC), Florianopolis, SC (Brazil). Dept. de Medicina Veterinaria Preventiva e Tecnologia]. E-mail: a2mrp@cav.udesc.br; Avila-Pires, Fernando Dias de [Santa Catarina Univ., Florianopolis, SC (Brazil). Dept. de Saude Publica

    1999-09-01

    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)

  4. 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.

  5. Role of environmental exposure to spider mites in the sensitization and the clinical manifestation of asthma and rhinitis in children and adolescents living in rural and urban areas.

    Science.gov (United States)

    Kim, Y-K; Chang, Y-S; Lee, M-H; Hong, S-C; Bae, J-M; Jee, Y-K; Chun, B-R; Cho, S-H; Min, K-U; Kim, Y-Y

    2002-09-01

    Spider mites such as the citrus red mite and the two-spotted spider mite have been demonstrated to be important allergens for fruit cultivating farmers. To evaluate the role of environmental exposure to spider mites in the sensitization and the clinical manifestations of asthma and rhinitis in children and adolescents living in urban and rural areas. A total of 16,624 subjects (aged 7 to 18 years) living in urban (metropolitan and non-metropolitan) and rural areas (apple orchards and citrus orchards) in Korea were evaluated by questionnaire and skin prick test for 11 common aeroallergens, including citrus red mite (CRM) and two-spotted spider mite (TSM). The positive skin response rates to TSM were 4.2% of 1,563 metropolitan subjects, 3.8% of 5,568 non-metropolitan subjects and 6.5% of 1,464 subjects living nearby apple farms, and that to CRM 15.6% of 8,029 living nearby citrus farms. The prevalence of current wheeze and rhinitis as reported on a questionnaire was higher among those with a history of visiting fruit farms once or more per year than among those without it (10% vs. 7.1%, 32.8% vs. 26.7%, for wheezing and rhinitis, respectively). Among those with wheezing or rhinitis, the positive skin responses to TSM or CRM were also higher among those with a history of visiting fruit farms than among those without one (11.2% vs. 6.6%, 13.0% vs. 6.6%, respectively), although the positive skin responses to house dust mites were similar in the both groups. Spider mites are common sensitizing allergens in children and adolescents exposed to them, and environmental exposure to these mites may represent an important risk factor in the sensitization and the clinical manifestations of asthma and rhinitis in children and adolescents living in rural and urban areas.

  6. 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.

  7. Acute neurological signs as the predominant clinical manifestation in four dogs with Angiostrongylus vasorum infections in Denmark

    Directory of Open Access Journals (Sweden)

    Pors Susanne E

    2011-06-01

    Full Text Available Abstract Four dogs with acute neurological signs caused by haemorrhages in the central nervous system were diagnosed with Angiostrongylus vasorum infection as the underlying aetiology. Two dogs presented with brain lesions, one dog with spinal cord lesions and one with lesions in both the brain and spinal cord. Only one dog presented with concurrent signs of classical pulmonary angiostrongylosis (respiratory distress, cough, and only two dogs displayed overt clinical signs of haemorrhages. Results of coagulation assays were inconsistent. Neurological signs reflected the site of pathology and included seizures, various cranial nerve deficits, vestibular signs, proprioceptive deficits, ataxia and paraplegia. One dog died and three were euthanised due to lack of improvement despite medical treatment. This emphasises canine angiostrongylosis as a potential cause of fatal lesions of the central nervous system and the importance of including A. vasorum as a differential diagnosis in young dogs with acute neurological signs in Denmark.

  8. Chromosome damage and clinical manifestation in a fetus and the mother after accidental 60Co exposure in Xinzhou

    International Nuclear Information System (INIS)

    Wang Jiajing; Mu Ying; Wang Shanmi

    1995-01-01

    The authors present the clinical effect and chromosome damage sustained by a fetus and the four months pregnant mother in an accidental 60 Co exposure in November of 1992 in Xinzhou, Shanxi Province. The mother suffered from a moderate acute radiation sickness with ratardation of fetal development. After delivery, the infant's body length, body weight and head circumference were all lowered by three percentiles compared with the normals. Four months after the exposure, the assay of the mother's peripheral lymphocytes showed a chromosome aberration rate of 36%, while concomitant examination of the baby failed to reveal any chromosome abnormality although the sister chromatid exchange rate was remarkably higher than that of the mother and the normal control

  9. [Genital herpes and pregnancy: Epidemiology, clinical manifestations, prevention and screening. Guidelines for clinical practice from the French College of Gynecologists and Obstetrician (CNGOF)].

    Science.gov (United States)

    Picone, O

    2017-12-01

    To analyze the consequences of genital herpes infections in pregnant women. The PubMed database and the recommendations from the French and foreign obstetrical societies or colleges have been consulted. The symptomatology of herpes genital rash is often atypical (NP2) and not different during pregnancy (Professional consensus). It is most often due to HSV2 (NP2). Seventy percent of pregnant patients have a history of infection with Herpes simplex virus, without reference to genital or labial localization, and this is in most cases type 1 (NP2). The prevalence of clinical herpes lesions at birth in the event of recurrence is about 16% compared with 36% in the case of initial infection (NP4). In HSV+ patients, asymptomatic herpetic excretion is 4 to 10%. The rate of excretion increases in HIV+ patients (20 to 30%) (NP2). The risk of HSV seroconversion during pregnancy is 1 to 5% (NP2), but can reach 20% in case of sero-discordant couple (NP2). Questioning is not always sufficient to determine the history of herpes infection of a patient and her partner (NP2) and the clinical examination is not always reliable (NP2). Herpetic hepatitis and encephalitis are rare and potentially severe (NP4). These diagnoses should be discussed during pregnancy and antiviral therapy should be started as soon as possible (Professional consensus). There is no established link between herpes infection and miscarriages (NP3). There appears to be an association between untreated herpes infection and premature delivery (NP3) but not in the case of treated infections (NP4). Herpetic fetopathies are exceptional (NP4). There is no argument for recommending specific prenatal diagnosis for herpes infection during pregnancy (Professional consensus). Condom use reduces the risk of initial infection in women who are not pregnant (NP3). There is no evidence to justify routine screening during pregnancy (Professional consensus). There is a strong discrepancy between the prevalence of herpetic excretion

  10. Influence of religion and supernatural beliefs on clinical manifestation and treatment practices in patients with bipolar disorder.

    Science.gov (United States)

    Grover, Sandeep; Hazari, Nandita; Aneja, Jitender; Chakrabarti, Subho; Avasthi, Ajit

    2016-08-01

    Religious and supernatural beliefs influence help seeking and treatment practices in bipolar disorder, but these are rarely explored by clinicians. This study aimed to understand religiousness, magico-religious beliefs, prevalence of religious and supernatural psychopathology and treatment practices among patients with bipolar disorder in euthymic state. A total of 185 patients of bipolar disorder currently in remission were assessed cross-sectionally for their clinical profile, current clinical status on the Hamilton Depression Rating Sscale (HDRS), Young Mania Rating Scale (YMRS) and the Global Assessment of Functioning (GAF). A semi structured instrument for magico-religious beliefs, aetiological models, treatment seeking and treatment practices was administered. More than a third of patients (37.8%) had psychopathology with either religious or supernatural content or both in their lifetime. Almost half (45.4%) the patients believed in a supernatural/religious aetiology for their illness. Among the specific causes, planetary influences (13.5%) and God's will (30.8%) were the most common supernatural and religious cause, respectively. Almost half (44.3%) of patients had first treatment contact with religious/supernatural treatment providers. More than 90% of patients reported belief in God, yet about 70% reported that their doctors did not ask them sufficient questions to understand their religiosity. Magico-religious beliefs are common in bipolar disorder and a large number of patients attribute these as aetiological factors for their illness. Consequently they tend to seek treatment from traditional practitioners prior to approaching medical practitioners and may continue treatment with them alongside medical management.

  11. [Association between vaginal secretion culture, socio-demographic characteristics and clinical manifestations of patients with vulvovaginal candidiasis].

    Science.gov (United States)

    Rodrigues, Márcio Tavares; Gonçalves, Ana Carolina; Alvim, Mariana Carolina Tocantins; Castellano Filho, Didier Silveira; Zimmermmann, Juliana Barroso; da Silva, Vânia Lúcia; Diniz, Cláudio Galuppo

    2013-12-01

    To investigate the etiology and the epidemiological profile of patients with vulvovaginal candidiasis (VVC) and predisposing factors. Vaginal secretions were streaked in Sabouraud agar and yeast samples were isolated and identified by Polymerase Chain Reaction (PCR). Demographic and clinical data were obtained with a questionnaire. For statistical analysis, the Student's t-test, the χ² and Fischer tests were applied as needed using the Statistical Package for Social Sciences (SPSS) software, with the level of significance set at 5%. Sixty-nine patients aged from 15 to 52 years were evaluated. They were predominantly white (79.7%), with higher education (58%), married (56.5%) and sexually active (97.1%). Among them, 34.8% were pregnant, 7.2% diabetic, 1.4% seropositive for AIDS, and 36.2% were using oral contraceptives. Recent antibiotic therapy was mentioned by 13% of the patients, and antifungal or anti-trichomonas therapy was mentioned by 5.8 and 1.4% of the patients, respectively. Corticosteroid use was reported by 2.9% and antineoplastic by 1.4%. Vaginal discharge and itching were the main complaints (97.1 and 73.9%), followed by burning (63.8%) and erythema (63.8%). When present, the vaginal flow was predominantly white (88.1%) or lumpy (86.6%). The diagnosis was confirmed by culture in 55 (79.7%) patients, with mixed infections in 4 patients. The most prevalent species was C. albicans, followed by C. glabrata (one monoinfection and two mixed infections with C. albicans). C. lusitaniae and C. albicans were also identified in mixed infections (two patients). Despite the high culture positivity and clinical data characteristic of VVC, the symptoms were not pathognomonic. C. albicans is the most prevalent species, but other species are also involved in VVC etiology, such as the emergence of C. lusitaniae.

  12. The effect of vitamin D on clinical manifestations and activity of Behçet’s disease

    Directory of Open Access Journals (Sweden)

    Nurşad Aslan

    2017-02-01

    Full Text Available Introduction: Immune mechanisms have been implemented to have a role in the pathogenesis of Behçet’s disease (BD and vitamin D has been shown to have a regulatory role in the immune system function. Aim: To evaluate the vitamin D levels of BD patients and its relationship between clinical findings and disease activity of BD. Material and methods: Sixty-eight patients with BD and 70 age- and sex-matched controls were examined retrospectively. Demographic features, vitamin D levels for both groups and clinical findings, disease activity, drug usage for BD patients were examined from their medical reports. Disease activity was calculated for each patient according to Krause’s BD activity assessment. Results: Mean vitamin D levels of patients and controls were 15.35 ±7.18 ng/ml and 18.44 ±5.79 ng/ml, respectively. Vitamin D levels were significantly lower in BD patients than in controls (p = 0.006. Mean vitamin D levels of active and inactive BD cases were 15.68 ±7.31 ng/ml and 15.08 ±7.17 ng/ml, respectively (p = 0.73. Disease activity of patients using and not using vitamin D was similar (p = 0.51. Conclusions : Significantly lower levels of vitamin D were observed in BD patients. Our results indicate that there is no correlation between BD activity and a vitamin D level. Together with these, vitamin D replacement treatment was found to have no effect on disease activity.

  13. Hydrocephalus following severe traumatic brain injury in adults. Incidence, timing, and clinical predictors during rehabilitation

    DEFF Research Database (Denmark)

    Kammersgaard, Lars Peter; Linnemann, Mia; Tibæk, Maiken

    2013-01-01

    To investigate timing and clinical predictors that might predict hydrocephalus emerging during rehabilitation until 1 year following severe traumatic brain injury (TBI).......To investigate timing and clinical predictors that might predict hydrocephalus emerging during rehabilitation until 1 year following severe traumatic brain injury (TBI)....

  14. 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

  15. Vitamin D status in rheumatoid arthritis patients: relation to clinical manifestations, disease activity, quality of life and fibromyalgia syndrome.

    Science.gov (United States)

    Gheita, Tamer A; Sayed, Safaa; Gheita, Heba A; Kenawy, Sanaa A

    2016-03-01

    To assess vitamin D levels in rheumatoid arthritis (RA) patients and to find their relation to clinical parameters, fibromyalgia syndrome (FMS), quality of life (QoL) and disease activity. The study included 63 RA patients and 62 controls. Clinical examination and laboratory investigations were performed. For patients, the Disease Activity Score (DAS-28), QoL index, Health Assessment Questionnaire II (HAQ II) and Modified Larsen score were calculated. 25-OH-vitamin D was measured in patients and controls. The patients' mean age was 41.59 ± 9.69 years and disease duration 5.89 ± 3.67 years. The level of vitamin D in RA patients was significantly lower (23.11 ± 12.71 ng/mL) than that in the controls (32.59 ± 13.06 ng/mL) (P = 0.005) being deficient in 50.8%, insufficient in 23.8% and normal in 25.4%. The RA patients with FMS (n = 33) had significantly lower levels of vitamin D (19.08 ± 10.59 ng/mL) than those without (27.55 ± 13.51 ng/mL) (P = 0.008). The difference was significant on comparing those receiving hydroxychloroquine (17.39 ± 7.84 ng/mL) to those not (31.85 ± 13.85 ng/mL) (P < 0.001). Vitamin D significantly correlated with QoL index (r = 0.58, P < 0.001) and negatively with HAQ II (r = -0.36, P = 0.004) and BMI (r = -0.39, P = 0.001). Special attention is required regarding vitamin D levels in RA patients with FMS and decreased QoL. Vitamin D should be corrected and supplementation considered among the RA management armamentarium. © 2014 Asia Pacific League of Associations for Rheumatology and Wiley Publishing Asia Pty Ltd.

  16. Retrospective Study of the Epidemiology and Clinical Manifestations of Cryptococcus gattii Infections in Colombia from 1997–2011

    Science.gov (United States)

    Lizarazo, Jairo; Escandón, Patricia; Agudelo, Clara Inés; Firacative, Carolina; Meyer, Wieland; Castañeda, Elizabeth

    2014-01-01

    Background Cryptococcosis due to Cryptococcus gattii is endemic in various parts of the world, affecting mostly immunocompetent patients. A national surveillance study of cryptococcosis, including demographical, clinical and microbiological data, has been ongoing since 1997 in Colombia, to provide insights into the epidemiology of this mycosis. Methodology/Principal Findings From 1,209 surveys analyzed between 1997–2011, 45 cases caused by C. gattii were reported (prevalence 3.7%; annual incidence 0.07 cases/million inhabitants/year). Norte de Santander had the highest incidence (0.81 cases/million/year), representing 33.3% of all cases. The male: female ratio was 3.3∶1. Mean age at diagnosis was 41±16 years. No specific risk factors were identified in 91.1% of patients. HIV infection was reported in 6.7% of patients, autoimmune disease and steroids use in 2.2%. Clinical features included headache (80.5%), nausea/vomiting (56.1%) and neurological derangements (48.8%). Chest radiographs were taken in 21 (46.7%) cases, with abnormal findings in 7 (33.3%). Cranial CT scans were obtained in 15 (33.3%) cases, with abnormalities detected in 10 (66.7%). Treatment was well documented in 30 cases, with most receiving amphotericin B. Direct sample examination was positive in 97.7% cases. Antigen detection was positive for all CSF specimens and for 75% of serum samples. C. gattii was recovered from CSF (93.3%) and respiratory specimens (6.6%). Serotype was determined in 42 isolates; 36 isolates were serotype B (85.7%), while 6 were C (14.3%). The breakdowns of molecular types were VGII (55.6%), VGIII (31.1%) and VGI (13.3%). Among 44 strains, 16 MLST sequence types (ST) were identified, 11 of them newly reported. Conclusions/Significance The results of this passive surveillance study demonstrate that cryptococcosis caused by C. gattii has a low prevalence in Colombia, with the exception of Norte de Santander. The predominance of molecular type VGII is of concern

  17. Effect of ethnic origin and gender on the clinical manifestations of myasthenia gravis among the Jewish population in Israel.

    Science.gov (United States)

    Asmail, Ali; Kesler, Anat; Drory, Vivian E; Kolb, Hadar; Karni, Arnon

    2017-06-15

    Reports on patients with myasthenia gravis (MG) of different ethnic origins demonstrated differences in weakness distribution and serological results. We studied MG characteristics in a cohort of Ashkenazi (ASH) and non-Ashkenazi (NASH) Jewish origin according to their ethnic origins and gender. The frequency of age of MG onset was distributed in a bi-modal fashion in the female patients and increased gradually over time, with a peak around 70years of age in the male patients. Ocular MG was more frequent in males and ASH patients. Unlike previous reports, our male patients had a higher proportion of positive serum anti-acetyl choline receptor (AChR) than female patients, with no ethnic-based differences in the rates of anti-AChR or anti-muscle specific kinase. Comorbidity with another autoimmune disease was more frequent among female patients with late-onset MG and NASH patients (mainly Israel-born). Male MG patients tended to have more malignant comorbidities than female MG patients. These results demonstrate the effect of ethnicity on clinical aspects of MG within the Jewish population in Israel, and reveal novel effects of gender-associated comorbidities in patients with MG. Copyright © 2017. Published by Elsevier B.V.

  18. The changing pattern of human brucellosis: clinical manifestations, epidemiology, and treatment outcomes over three decades in Georgia

    Directory of Open Access Journals (Sweden)

    Zenaishvili Otar

    2010-12-01

    Full Text Available Abstract Background Brucellosis is an endemic infection in Georgia. We conducted a review of patient records with a suspected or confirmed diagnosis of brucellosis over three decades at the central referral hospital for brucellosis cases, the Institute of Parasitology and Tropical Medicine (IPTM in Tbilisi. The purpose was to describe the demographic profile and clinical characteristics as well as diagnostic and treatment strategies in patients with brucellosis. Methods Data were abstracted from randomly selected patient records at the IPTM. In total, 300 records were reviewed from three time periods: 1970-73, 1988-89, and 2004-2008. Results The age distribution of patients shifted from a median age of 40 years in the first time period to 20 years in the third time period. Azeri ethnicity was an increasing proportion of the total number of cases. The frequency of relapsed infection was 14.7% (44 cases. A total of 50 patients received vaccine therapy, and although the vaccine produced immune responses, demonstrated by an increase in agglutination titers, it was not associated with improved outcome. Conclusion The demographics of brucellosis in Georgia fit a profile of persons that tend sheep. Osteoarticular complications were commonly detected, especially in children. The changing pattern of brucellosis in Georgia suggests clinicians should be updated about different trends in brucellosis in their country.

  19. Presentation of 60 Cases of Infantile Spasms Based on Etiology, Clinical Manifestation EEG and Brain CT Scan in Mofid Children Hospital

    Directory of Open Access Journals (Sweden)

    Mohammad Mehdi Taghdiri

    2002-06-01

    Full Text Available Objective: Among different epileptic syndrome infantile spasm is one of the most malignant forms which cause irrepairable brain damage in the child. Consequently the longer this type of epilepsy lasts the more harmful results will follow. The majority of children with infantile spasm are younger than one year age and only 5 percent of affected children are in the age group above one year. Materials & Methods: This descriptive study was done on 60 (36 male and 24 female infants 2-24 months age with clinical examination, observation, interview and questionnaire  in pediatric neurology department of Mofid children hospital during two years. Results: From 60 patients (36 male and 24 female, 48 case (80% symptomatic and 12 case (20% cryptogenic and idiopathic. Based on clinical manifestation 35 case (58% were flexor type. 6 case (10% extensor and 19 cases (32% mixed. In EEG hypsarrhythmia in all patients was seen. Brain CT scan in 11 cases showed brain atrophy and in remainder was normal. Conclusion: In our study etiologically symptomatic and clinically flexor type was more common. Hysparrhythmia in all patients was seen and brain CT scan in 80% of patients was normal.

  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. Age related clinical manifestation of acute bacterial meningitis in children presenting to emergency department of a tertiary care hospital

    International Nuclear Information System (INIS)

    Fayyaz, J.; Khursheed, M.; Feroze, A.

    2014-01-01

    Objective: To determine the signs and symptoms of acute bacterial meningitis (ABM) in different age groups of a paediatric population. Methods: The retrospective study comprised patients who had been admi