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)

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.

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

Science.gov (United States)

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

2014-01-01

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

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 

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.

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)

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

Clinical and radiological manifestations of paraneoplastic syndrome of bronchogenic carcinoma

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Goldner Branislav

2005-01-01

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

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

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.

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.

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 ...

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...

[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.

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.

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.

[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.

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.

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

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...

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

Directory of Open Access Journals (Sweden)

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

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.

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.

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)

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.

[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.

Sclerodermatomyositis, ocular manifestations.

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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.

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

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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.

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

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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.

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)

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.

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

Science.gov (United States)

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

2017-09-01

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

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.

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

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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

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...

Intrathoracic manifestations of Rosai-Dorfman disease.

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

2010-09-01

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

Skin Manifestations of Endocrine Diseases.

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Demirkesen, Cuyan

2015-01-01

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

Clinical manifestations of primary syphilis in homosexual men

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Milan Bjekić

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

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)

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

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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.

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....

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

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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.

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.

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

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...

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.

The extrahepatic manifestations of hepatitis B virus.

Science.gov (United States)

Baig, Saeeda; Alamgir, Mohiuddin

2008-07-01

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

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

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

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.

Ocular Manifestations of Acquired Immunodeficiency Syndrome.

Science.gov (United States)

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

2015-08-01

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

A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN HIV PATIENTS

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Ravinder

2015-12-01

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

Ocular Manifestations of Biopsy-Proven Pulmonary Sarcoidosis in Korea

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Seung Yong Choi

2018-01-01

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

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

Clinical manifestations and outcome of tuberculous sclerokeratitis.

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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/

Extrahepatic Manifestations and Autoantibodies in Patients with Hepatitis C Virus Infection

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Takashi Himoto

2012-01-01

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

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.

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

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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.

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.

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

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

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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.

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

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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.

Can dentists detect multiple myeloma through oral manifestations?

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Thaís Miranda Xavier de Almeida

2018-01-01

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

Musculoskeletal manifestations of the antiphospholipid syndrome.

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

2016-04-01

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

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

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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.

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

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Pritesh B Ruparelia

2012-01-01

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

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.

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.

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.

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.

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....

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.

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.

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

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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.

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

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)

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

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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.

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

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

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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.

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

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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.

Facial diplegia: etiology, clinical manifestations, and diagnostic evaluation

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Sefer Varol

2015-12-01

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

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

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

2017-10-01

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

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

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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.

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

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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.

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

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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.

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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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.

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.

Classification, diagnostic criteria, and treatment recommendations for orofacial manifestations in HIV-infected pediatric patients. Collaborative Workgroup on Oral Manifestations of Pediatric HIV Infection.

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Ramos-Gomez, F J; Flaitz, C; Catapano, P; Murray, P; Milnes, A R; Dorenbaum, A

1999-01-01

The criteria for diagnosis of HIV-related oral lesions in adults are well established, but corresponding criteria in the pediatric population are not as well defined. The Collaborative Workgroup on the Oral Manifestations of Pediatric HIV infection reached a consensus, based upon available data, as to the presumptive and definitive criteria to diagnose the oral manifestations of HIV infection in children. Presumptive criteria refer to the clinical features of the lesions, including signs and symptoms, whereas definitive criteria require specific laboratory tests. In general, it is recommended that definitive criteria be established whenever possible. Orofacial manifestations have been divided into three groups: 1) those commonly associated with pediatric HIV infection; 2) those less commonly associated with pediatric HIV infection; and 3) those strongly associated with HIV infection but rare in children. Orofacial lesions commonly associated with pediatric HIV infection include candidiasis, herpes simplex infection, linear gingival erythema, parotid enlargement, and recurrent aphthous stomatitis. In contrast, orofacial lesions strongly associated with HIV infection but rare in children include Kaposi's sarcoma, non-Hodgkin's lymphoma, and oral hairy leukoplakia. Treatment recommendations, specific for this age group, have been included for some of the more common HIV-related orofacial manifestations.

Neurological Manifestations In Inflammatory Bowel Disease

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youssef HNACH

2015-06-01

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

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

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Rui eWang

2014-06-01

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

Chaos theory for clinical manifestations in multiple sclerosis.

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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.

Rectal prolapse as initial clinical manifestation of colon cancer.

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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.

Manifest dream content as a possible predictor of suicidality.

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Glucksman, Myron L

2014-12-01

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

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

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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.

Clinical manifestations and management of Gaucher disease.

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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.

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

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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.

Articular manifestations in patients with Lyme disease.

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

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

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

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Melisa I. Barliana

2013-09-01

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

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.

Cardiac manifestation's history in the systemic lupus erythematosus

International Nuclear Information System (INIS)

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

2001-01-01

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

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

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.

Neurological manifestations of Batch s disease

International Nuclear Information System (INIS)

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

2006-01-01

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

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

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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

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

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Chiara Davico

2018-03-01

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

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.

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

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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

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

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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.

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

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.

[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.

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

Clinical and radiological study of osteoarticular manifestations of systemic lupus erythematosus

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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

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.

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.)

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

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

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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

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)

The radiological manifestations of sickle cell disease

International Nuclear Information System (INIS)

Madani, G.; Papadopoulou, A.M.; Holloway, B.; Robins, A.; Davis, J.; Murray, D.

2007-01-01

Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD

The radiological manifestations of sickle cell disease

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Madani, G. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom)]. E-mail: gittamadani@yahoo.com; Papadopoulou, A.M. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Holloway, B. [Department of Radiology, Royal Free Hospital NHS Trust, London (United Kingdom); Robins, A. [Department of Paediatrics, Whittington Hospital NHS Trust, London (United Kingdom); Davis, J. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom); Murray, D. [Department of Radiology, Whittington Hospital NHS Trust, London (United Kingdom)

2007-06-15

Sickle cell disease (SCD) is an inherited abnormality of the ss-globin chain, which causes a spectrum of haemolytic anaemias. Clinical manifestations in SCD include anaemia, jaundice, recurrent vaso-occlusive crises, and infections (particularly by encapsulated bacteria) due to functional asplenia and cerebrovascular accidents. Radiological investigations play a critical role both in the diagnosis and in the primary prevention of the complications of SCD.

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)

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

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

2011-02-01

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

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)

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

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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.

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

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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).

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...

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

African Journals Online (AJOL)

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

[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

found in both group. Twenty-seven cases in type III and 23 cases in type IV, it was found there were about 33.4% patients accompanied with fever and 25.9% accompanied with jaundice in type III. Paralleled,there were about 30.4% and 34.8% patients in type IV. The liver functional enzyme in serum were found increased in both type. After supporting treatment for 3-6 months,there were 5 and 3 patients present as mild non-anastomotic biliary stricture in type III and type IV group. In the group type V, there were 13 patients. The detected liver functional indicators in serum were increased. After supporting treatment for 6-12 months,there were 4 patients present as moderate non-anastomotic biliary stricture in this group. There were 18 patients in type VI group, all indicators of the liver functional enzyme in serum before the treatment were elevated conspicuously. All patients in this group were found serious stricture up to three places that have not been sustained in the period of follow-up. Nine died of MOSF, 1 died of AOSC, 8 had undergone retransplantation. In the retransplantation patients, 4 died of post operation MOSF, 3 recovered to normal, 1 patient was found BCS once more 15 d after the retransplantation and the third-transplantation was performed 7 months after the second transplantation, no BCS was found again. The deaths total rate was 13.6%, death rate of retransplantation was 44.0%, total cure rate was 54.0%, total improvement rate was 71.0% and total stenosis rate was 29.0%. (1) According to the check with optical fiber choledochoscope, there are 6 types of patho-typing in BCS patients. The clinical manifestation includes jaundice and fever. The filling defect of the biliary tract tree might showed 4 appearances. (2)The patho-typing contributes to the clinical manifestation and the filling defect of the biliary tract tree.

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.

Pulmonary manifestations from systemic vasculitides

International Nuclear Information System (INIS)

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

2007-01-01

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

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.

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

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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

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

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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.

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.

A Rare Manifestation of Hypothyroid Myopathy: Hoffmann's Syndrome

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Kang Won Lee

2015-12-01

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

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.

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

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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.

Neurologic Manifestations of Enterovirus 71 Infection in Korea.

Science.gov (United States)

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

2016-04-01

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

Cutaneous manifestations in patients with mastocytosis

DEFF Research Database (Denmark)

Hartmann, Karin; Escribano, Luis; Grattan, Clive

2016-01-01

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

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

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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.

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

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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.

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

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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.

Prevalence and characteristics of articular manifestations in human ...

African Journals Online (AJOL)

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

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

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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.

[Pulmonary Manifestations of Vasculitis].

Science.gov (United States)

von Vietinghoff, S

2016-11-01

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

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

Asymptomatic hyper-creatine-kinase-emia as sole manifestation of inclusion body myositis

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Josef Finsterer

2013-06-01

Full Text Available Sporadic inclusion body myositis (sIBM usually manifests with painless weakness of the hand, finger and hip flexors. Absence of symptoms or signs, but mild hyper-CK-emia as the sole manifestation of IBM, has not been reported. We report the case of a 73-year-old male who presented with asymptomatic recurrent hyper-CK-emia ranging from 200 to 1324 U/L (n<171 U/L, since 10 years. Clinical neurologic investigation, nerve conduction studies and EMG were non-informative. Muscle biopsy surprisingly revealed sIBM. sIBM may be asymptomatic and may manifest with hyper-CK-emia exclusively. So, it has to be included in the differential diagnoses of asymptomatic hyper-CK-emia.

Cutaneous Manifestations of Systemic Lupus Erythematosus

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

2012-01-01

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

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

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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

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

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Ruth M. Fred-Jiménez

2016-01-01

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

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

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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.

Influence of weight loss on the clinical manifestations of osteoarthritis of the knee-joints.

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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.

Breast manifestations of systemic diseases

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Dilaveri CA

2012-02-01

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

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

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O.I. Dorosh

2014-08-01

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

Tardive Dystonia: Clinical Spectrum and Novel Manifestations

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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.

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

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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

[Study of echocardiographic parameters of rheumatoid arthritis black African without clinically evident cardiovascular manifestations: A cross-sectional study of 73 cases in Senegal].

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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

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

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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.

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

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

2014-01-01

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

[Otorhinolaryngological manifestations in patients with Behçet disease].

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

2014-01-01

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

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.

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.

Risk prediction and risk reduction in patients with manifest arterial disease

NARCIS (Netherlands)

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

2006-01-01

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

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

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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

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

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B D Nazarov

2012-01-01

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

Different manifestation of depressive disorder in the elderly.

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Shahpesandy, Homayun

2005-12-01

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

Milder clinical manifestation of scrub typhus in Kinmen, Taiwan

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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.

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

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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.

Extrahepatic manifestations associated with Chronic Hepatitis C Virus Infection

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A. Flores-Chávez

Full Text Available Summary Chronic hepatitis C virus (HCV infection has been associated with both organ-specific and systemic autoimmune diseases, with cryoglobulinemia being the most frequent associated disease. Experimental, virologic, and clinical evidence have demon-strated a close association between HCV infection and some systemic autoimmune diseases, especially Sjögren’s syndrome, but also rheumatoid arthritis and lupus. A higher prevalence of hematological processes has also been described in patients with HCV infection, including cytopenias and lymphoproliferative disorders (B-cell lymphoma. In addition, patients with chronic HCV infection have a higher frequency of other extrahepatic manifestations including endocrine, metabolic and cardiovascular disorders that may worse the prognosis of patients, along with neuropsychiatric manifestations and general symptoms that have a significant influence on the quality of life of the patient. Direct-acting antiviral therapies (DAAs that have recently begun to be used are providing the opportunity to effectively cure chronic HCV infection and reduce the burden of both hepatic and extrahepatic complications.

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

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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).

Pattern of cutaneous manifestations in diabetes mellitus

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Goyal Abhishek

2010-01-01

Full Text Available Background: Diabetes mellitus affects individuals of all ages and socioeconomic status. Skin is affected by the acute metabolic derangements as well as by chronic degenerative complications of diabetes. Aims: To evaluate the prevalence of skin manifestations in patients with diabetes mellitus. To analyze the prevalence and pattern of skin disorders among diabetic patients from this region of Western Himalayas. Materials and Methods: One hundred consecutive patients with the diagnosis of diabetes mellitus and having skin lesions, either attending the diabetic clinic or admitted in medical wards were included in this study. Results: The common skin disorders were: x0 erosis (44%, diabetic dermopathy (36%, skin tags (32%, cutaneous infections (31%, and seborrheic keratosis (30%. Conclusion: Skin is involved in diabetes quite often and the manifestations are numerous. High prevalence of xerosis in our diabetic population is perhaps due to cold and dry climatic conditions in the region for most of the time in the year.

Clinical Characterization of Gastric Antral Vascular Ectasia: A Potential Manifestation of the Metabolic Syndrome.

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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.

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.

Clinical Reasoning Terms Included in Clinical Problem Solving Exercises?

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Musgrove, John L; Morris, Jason; Estrada, Carlos A; Kraemer, Ryan R

2016-05-01

Background Published clinical problem solving exercises have emerged as a common tool to illustrate aspects of the clinical reasoning process. The specific clinical reasoning terms mentioned in such exercises is unknown. Objective We identified which clinical reasoning terms are mentioned in published clinical problem solving exercises and compared them to clinical reasoning terms given high priority by clinician educators. Methods A convenience sample of clinician educators prioritized a list of clinical reasoning terms (whether to include, weight percentage of top 20 terms). The authors then electronically searched the terms in the text of published reports of 4 internal medicine journals between January 2010 and May 2013. Results The top 5 clinical reasoning terms ranked by educators were dual-process thinking (weight percentage = 24%), problem representation (12%), illness scripts (9%), hypothesis generation (7%), and problem categorization (7%). The top clinical reasoning terms mentioned in the text of 79 published reports were context specificity (n = 20, 25%), bias (n = 13, 17%), dual-process thinking (n = 11, 14%), illness scripts (n = 11, 14%), and problem representation (n = 10, 13%). Context specificity and bias were not ranked highly by educators. Conclusions Some core concepts of modern clinical reasoning theory ranked highly by educators are mentioned explicitly in published clinical problem solving exercises. However, some highly ranked terms were not used, and some terms used were not ranked by the clinician educators. Effort to teach clinical reasoning to trainees may benefit from a common nomenclature of clinical reasoning terms.

Ocular manifestations of leptospirosis

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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.

Neurological manifestations in HIV positive patients in Tehran, Iran

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Minoo Mohraz

2014-02-01

Full Text Available Objective: To evaluate the neurological complications among Iranian HIV-positive patients. Methods: This cross-sectional study was conducted among 428 patients diagnosed with HIV infection between 2006 and 2009 at Imam Khomeini hospital, Tehran, Iran. Demographic and clinical variables as well as laboratory tests were extracted and analyzed. Also, another 100 patients refereed to Voluntary Counseling and Testing center of the hospital were visited and evaluated for neurological complications. Results: Among the patients, neurologic manifestations were observed in 34 (7.94% patients. Twenty three percent of the patients received antiretroviral therapy. Identified causes included brain toxoplasmosis (14.7%, progressive multi-focal leuko encephalopathy (5.9%, HIV encephalopathy (5.9%, TB meningitis (5% and unknown etiologies (11.8%. Also, among 100 patients who were admitted and visited at the Voluntary Counseling and Testing center, no one was diagnosed for any neurological manifestations. Conclusions: According to our results, toxoplasmosis is the most frequent cause of neurological conditions among Iranian HIV infected patients and should be considered in any HIV/AIDS patient with neurological manifestations.

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.

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....

Clinical manifestations and management of prune-belly syndrome in a large contemporary pediatric population.

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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.

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

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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.

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.

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

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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

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

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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.

A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome.

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Sousa, David Cordeiro; Leal, Inês; Faria, Mun Yueh; Pinto, Luís Abegão

2016-01-01

To report a case of a patient who developed uveitis-glaucoma-hyphema (UGH) syndrome after an uneventful cataract surgery and to discuss risk factors, diagnostic challenges, management options, and clinical implications. Uveitis-glaucoma-hyphema syndrome is a rare but potentially serious cataract surgery complication. Clinical manifestations include increased intraocular pressure (IOP), anterior chamber inflammation, and recurrent hyphema or microhyphema. Uveitis-glaucoma-hyphema Plus syndrome also includes accompanying vitreous hemorrhage. Although classically associated with rigid anterior chamber intraocular lenses (lOLs), cases of malpositioning and subluxated posterior chamber lOLs have also been described as possible triggers. We report a case of a 70-year-old Caucasian man who developed UGH Plus syndrome after an uneventful cataract surgery with an lOL implanted in the capsular bag. During postoperative follow-up, persistent intraocular inflammation, increased IOP, hyphema, and vitreous hemorrhage were consistent with this diagnosis. Slit-lamp examination demonstrated progressive localized iris atrophy, compatible with chafing of the posterior iris by the IOL haptic as the trigger for UGH syndrome. A pars plana vitrectomy was performed and a retropupillary intraocular lens was implanted. No further complications occurred during follow-up. Given the increasing prevalence of single-piece lOLs implanted in the capsular bag, it is important to recognize UGH syndrome as a rare but potentially serious complication. How to cite this article: Sousa DC, Leal I, Faria MY, Pinto LA. A Rare Manifestation of Uveitis-glaucoma-hyphema Syndrome. J Curr Glaucoma Pract 2016;10(2):76-78.

Malnutrition and clinical manifestations in school going children at district tharparkar, sindh, pakistan

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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)

Oral manifestations associated with systemic complications of prune belly syndrome.

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Pessoa, Larissa; Galvão, Virgilio

2013-01-01

Prune belly syndrome (PBS) is a rare congenital malformation of unknown etiology characterized by congenital abnormalities including abdominal wall flaccidity, urinary tract alterations, and bilateral cryptorchidism. The incidence of the syndrome is between 1/35000 and 1/50000 live births and there is little information about the oral findings. The present case describes the oral manifestations of a 15-year-old boy diagnosed with PBS. The findings include enamel hypoplasia associated with generalized hypocalcemic dental lines. In the radiographic exam, pronounced demineralization of the trabecular bone of the jaws, loss of lamina dura in all the teeth, and discontinuity of the mandibular cortical bone were observed. Prune belly syndrome is a rare disease, whose clinical dental aspects are not pathognomonic of the syndrome. The comprehension of the systemic mechanism of PBS and its comorbidities enable an understanding of the systemic etiologic factors associated with oral manifestations. Copyright © 2013 Elsevier Inc. All rights reserved.

A Clinico- Epidemiological Study Of Filarial Related Orthopaedic Manifestations

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Patond K.R

1992-01-01

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

Case report of Graves’ disease manifesting with odynophagia and heartburn

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

2015-01-01

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

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

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

2015-12-28

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

Extra-Articular Manifestations of Rheumatoid Arthritis, Now

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Paloma Vela

2014-06-01

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

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

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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

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

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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.

Pulmonary arterial hypertension as a manifestation of lupus erythematosus

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

1987-08-01

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

Neurological manifestations of Ehlers-Danlos syndrome(s): A review

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Castori, Marco; C. Voermans, Nicol

2014-01-01

The term “Ehlers-Danlos syndrome” (EDS) groups together an increasing number of heritable connective tissue disorders mainly featuring joint hypermobility and related complications, dermal dysplasia with abnormal skin texture and repair, and variable range of the hollow organ and vascular dysfunctions. Although the nervous system is not considered a primary target of the underlying molecular defect, recently, increasing attention has been posed on neurological manifestations of EDSs, such as musculoskeletal pain, fatigue, headache, muscle weakness and paresthesias. Here, a comprehensive overview of neurological findings of these conditions is presented primarily intended for the clinical neurologist. Features are organized under various subheadings, including pain, fatigue, headache, stroke and cerebrovascular disease, brain and spine structural anomalies, epilepsy, muscular findings, neuropathy and developmental features. The emerging picture defines a wide spectrum of neurological manifestations that are unexpectedly common and potentially disabling. Their evaluation and correct interpretation by the clinical neurologist is crucial for avoiding superfluous investigations, wrong therapies, and inappropriate referral. A set of basic tools for patient’s recognition is offered for raising awareness among neurologists on this underdiagnosed group of hereditary disorders. PMID:25632331

Cardiac tamponade as an initial manifestation of systemic lupus erythematosus.

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Carrion, Diego M; Carrion, Andres F

2012-06-12

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

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.

Organising pneumonia - the first manifestation of rheumatoid arthritis.

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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.

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.

[«Man-in-the-barrel» syndrome: atypical manifestation of giant cell arteritis].

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Calle-Lopez, Y; Fernandez-Ramirez, A F; Franco-Dager, E; Gomez-Lopera, J G; Vanegas-Garcia, A L

2018-06-01

«Man-in-the-barrel» syndrome refers to diplegia of the upper extremities in which mobility of the head and lower limbs is preserved. Brachial plexitis that presents as «man-in-the-barrel» syndrome is an unusual manifestation of giant cell arteritis. We report a case of C5-C6 plexitis as part of the clinical features of a patient with giant cell arteritis. A 70-year-old male with a two-month history of weight loss, headache, facial pain and jaw claudication, associated with a persistent elevation of acute phase reactants and bilateral brachial plexopathy, with no evidence of neck or brain injuries or occult neoplasm and with negative autoimmunity tests. Results of the biopsy study of the temporal artery were compatible with giant cell arteritis, and the positron emission tomography scan revealed extensive vascular involvement of the aorta and its branches. Although the typical clinical manifestations of giant cell arteritis are headache, jaw claudication, loss of sight, constitutional symptoms and polymyalgia rheumatica, its presence must be suspected in patients over the age of 50 who manifest alterations affecting the peripheral nerve, including brachial diplegia with no other demonstrable cause.

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

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A. A. Kubanov

2016-01-01

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

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

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Yi Dai

2017-07-01

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

VACCINATION IN CHILDREN WITH DIFFERENT MANIFESTATIONS OF TUBERCULOSIS INFECTION

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T.S. Drozdenko

2011-01-01

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

Pulmonary arterial hypertension as a manifestation of lupus erythematosus

International Nuclear Information System (INIS)

Stark, P.; Jaramillo, D.

1987-01-01

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

Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex.

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Scheidt, Lisa; Sanabe, Mariane Emi; Diniz, Michele Baffi

2015-01-01

Epidermolysis bullosa (EB) is a group of hereditary chronic disorders, characterized by fragility of the skin and mucous membranes in response to minor mechanical trauma. The objective of this study was to report the case of a young girl diagnosed with epidermolysis bullosa simplex (EBS), transmitted by an autosomal dominant gene. Cutaneous findings included blisters and dystrophy following minimal friction. Recurrent blisters and vesicle formation on the hard palate were the main oral findings. In conclusion, publications concerning the oral and clinical manifestations of EBS are important for providing knowledge and an early multidisciplinary approach that prevents blister formation and improves these patients' quality of life, with the dentist playing an important role in oral health management. How to cite this article: Scheidt L, Sanabe ME, Diniz MB. Oral Manifestations and Dental Management of Epidermolysis Bullosa Simplex. Int J Clin Pediatr Dent 2015;8(3):239-241.

Altered brain mechanisms of emotion processing in pre-manifest Huntington's disease.

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Novak, Marianne J U; Warren, Jason D; Henley, Susie M D; Draganski, Bogdan; Frackowiak, Richard S; Tabrizi, Sarah J

2012-04-01

, right pallidum, right thalamus, cerebellum, middle frontal, middle occipital, right superior and left inferior temporal gyri, and left superior parietal lobule. The modulated happiness network included postcentral gyri, left caudate, right cingulate cortex, right superior and inferior parietal lobules, and right superior frontal, middle temporal, middle occipital and precentral gyri. These effects were not driven merely by striatal dysfunction. We did not find equivalent associations between brain structure and emotion recognition, and the pre-manifest Huntington's disease cohort did not have a behavioural deficit in out-of-scanner emotion recognition relative to controls. In addition, we found increased neural activity in the pre-manifest subjects in response to all three emotions in frontal regions, predominantly in the middle frontal gyri. Overall, these findings suggest that pathophysiological effects of Huntington's disease may precede the development of overt clinical symptoms and detectable cerebral atrophy.

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

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Pauling, John D

2018-05-01

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

Clinical manifestations and epigenetic mechanisms of gastric mucosa associated lymphoid tissue lymphoma and long-term follow-up following Helicobacter pylori eradication.

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Song, Yan; Jiang, Kui; Su, Shuai; Wang, Bangmao; Chen, Guangxia

2018-01-01

The current study aimed to summarize the clinical manifestations and identify the epigenetic mechanisms of gastric mucosa associated lymphoid tissue (MALT) lymphoma, as well as evaluate the long-term effects of Helicobacter pylori ( H. pylori ) eradication. A total of 122 patients with marginal zone B-cell lymphoma of primary gastric MALT lymphoma were enrolled in the present study. The clinical manifestations of gastric MALT lymphoma, including symptoms, H. pylori state and endoscopic type, were summarized. The response to therapy was evaluated in patients that underwent H. pylori eradication. Survival analysis was estimated using the Kaplan-Meier method. The expression of microRNA-383 (miR-383) in tumor tissues and cell lines was determined using reverse transcription quantitative polymerase chain reaction. Furthermore, bioinformatic analyses, luciferase reporter assays. and western blot analysis identified zinc finger E-box binding homeobox 2 (ZEB2) as a direct target gene of miR-383. An MTT assay was used to examine the function of miR-383 and ZEB2 in MALT lymphoma. The clinical symptoms of patients with gastric MALT lymphoma were non-specific and included epigastric pain, abdominal discomfort and bleeding. The majority of endoscopic types were classified as ulcer, erosion and mucosa edema. The H. pylori infection rate was 79.5% (97/122) and a total of 47 patients underwent eradication therapy. Lymphoma remission was achieved in 93.6% (44/47) of patients and complete remission (CR) was achieved in 74.4% (35/47). The median follow-up time was 38 months (range, 10-132 months) and the median time taken to achieve CR was 4 months (range, 3-7 months). The estimated 3-year survival rate was 90.3% and the 5-year survival rate was 76.2%. Therefore, it was determined that patients with stage I or II gastric MALT lymphoma are able to undergo H. pylori eradication as a first-line treatment and that the survival rate of patients undergoing this treatment is high

Neurological Manifestations of Dengue Infection

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Guo-Hong Li

2017-10-01

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

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

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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.

OPHTHALMIC MANIFESTATIONS OF TAKAYASU ARTERITIS IN SOUTH INDIAN POPULATION

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Nandhini Arumugam

2017-06-01

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

Adult-onset photosensitivity: clinical significance and epilepsy syndromes including idiopathic (possibly genetic) photosensitive occipital epilepsy.

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Koutroumanidis, Michalis; Tsirka, Vasiliki; Panayiotopoulos, Chrysostomos

2015-09-01

To evaluate the clinical associations of adult-onset photosensitivity, we studied the clinical and EEG data of patients who were referred due to a possible first seizure and who had a photoparoxysmal response on their EEG. Patients with clinical evidence of photosensitivity before the age of 20 were excluded. Of a total of 30 patients, four had acute symptomatic seizures, two had vasovagal syncope, and 24 were diagnosed with epilepsy. Nine of the 24 patients had idiopathic (genetic) generalized epilepsies and predominantly generalized photoparoxysmal response, but also rare photically-induced seizures, while 15 had exclusively, or almost exclusively, reflex photically-induced occipital seizures with frequent secondary generalization and posterior photoparoxysmal response. Other important differences included a significantly older age at seizure onset and paucity of spontaneous interictal epileptic discharges in patients with photically-induced occipital seizures; only a quarter of these had occasional occipital spikes, in contrast to the idiopathic (genetic) generalized epilepsy patients with typically generalized epileptic discharges. On the other hand, both groups shared a positive family history of epilepsy, common seizure threshold modulators (such as tiredness and sleep deprivation), normal neurological examination and MRI, a generally benign course, and good response to valproic acid. We demonstrated that photosensitivity can first occur in adult life and manifest, either as idiopathic (possibly genetic) photosensitive occipital epilepsy with secondary generalization or as an EEG, and less often, a clinical/EEG feature of idiopathic (genetic) generalized epilepsies. Identification of idiopathic photosensitive occipital epilepsy fills a diagnostic gap in adult first-seizure epileptology and is clinically important because of its good response to antiepileptic drug treatment and fair prognosis.

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...

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

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L. V. Limareva

2013-01-01

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

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.

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.

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

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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.

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

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Burhan Engin

2013-05-01

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

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

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Olumayowa Abimbola Oninla

2014-01-01

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

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

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

2018-03-12

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

Central nervous system leukemia and lymphoma: computed tomographic manifestations

International Nuclear Information System (INIS)

Pagani, J.J.; Libshitz, H.I.; Wallace, S.; Hayman, L.A.

1981-01-01

Computed tomographic (CT) abnormalities in the brain were identified in 31 of 405 patients with leukemia or lymphoma. Abnormalities included neoplastic masses (15), hemorrhage (nine), abscess (two), other brain tumors (four), and methotrexate leukoencephalopathy (one). CT was normal in 374 patients including 148 with meningeal disease diagnosed by cerebrospinal fluid cytologic examination. Prior to treatment, malignant masses were isodense or of greater density with varying amounts of edema. Increase in size or number of the masses indicated worsening. Response to radiation and chemotherapy was manifested by development of a central low density region with an enhancing rim. CT findings correlated with clinical and cerebrospinal fluid findings. The differential diagnosis of the various abnormalities is considered

MRI of symptomatic Rathke`s cleft cyst. MR intensity of cyst contents and clinical manifestations

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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)

Thoracic manifestation of tuberculosis; Thorakale Manifestation der Tuberkulose

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

2016-10-15

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

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)

Pathology and pathophysiology of pulmonary manifestations in leptospirosis

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Marisa Dolhnikoff

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

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

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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.

Manifestations of Gorlin-Goltz syndrome.

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Larsen, Anne Kristine; Mikkelsen, Dorthe Bisgaard; Hertz, Jens Michael; Bygum, Anette

2014-05-01

Gorlin-Goltz syndrome is an uncommon hereditary condition caused by mutations in the PTCH1 gene causing a wide range of developmental abnormalities. Multiple basal cell carcinomas, palmoplantar pits and jaw cysts are cardinal features. Many clinicians are unfamiliar with the different manifestations and the fact that patients are especially sensitive to ionizing radiation. This was a retrospective analysis of patients with Gorlin-Goltz syndrome seen at the Department of Dermatology and Allergy Centre or at Department of Plastic Surgery, Odense University Hospital, Denmark, in the period from 1994 to 2013. A total of 17 patients from eight families fulfilled the diagnostic criteria. In all, 14 patients had basal cell carcinomas, 12 patients had jaw cysts and ten patients had calcification of the falx cerebri. Other clinical features were frontal bossing, kyphoscoliosis, rib anomalies, coalitio, cleft lip/palate, eye anomalies, milia and syndactyly. In one family, medulloblastoma and astrocytoma occurred. Traditional treatment principles of basal cell carcinomas were used including radiotherapy performed in six patients. PTCH1 mutations were identified in five families and none of these mutations had previously been described. The patient cohort illustrates classic and rare disease manifestations. It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. Today, mutation analysis can be used for confirmation of the diagnosis and for predictive genetic testing. Patients should be offered genetic counselling and life-long surveillance. not relevant. not relevant.

Clinical profile of neurological complications in HIV- reactive ...

African Journals Online (AJOL)

McRoy

2014-07-26

Jul 26, 2014 ... reproduction in any medium, provided the original work is properly cited. Clinical profile of ... cytology, staining including grams staining, acid-fast ... manifestation of neurological involvement. Exclusion criteria. HIV-positive patients not showing any manifestation of neurological involvement. Ethical issues.

Atypical Cutaneous Manifestations in Syphilis.

Science.gov (United States)

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

2016-05-01

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

Clinics of ocular tuberculosis.

Science.gov (United States)

Gupta, Vishali; Shoughy, Samir S; Mahajan, Sarakshi; Khairallah, Moncef; Rosenbaum, James T; Curi, Andre; Tabbara, Khalid F

2015-02-01

Ocular tuberculosis is an extrapulmonary tuberculous condition and has variable manifestations. The purpose of this review is to describe the clinical manifestations of ocular tuberculosis affecting the anterior and posterior segments of the eye in both immunocompetent and immunocompromised patients. Review of literature using Pubmed database. Mycobacterium tuberculosis may lead to formation of conjunctival granuloma, nodular scleritis, and interstitial keratitis. Lacrimal gland and orbital caseating granulomas are rare but may occur. The intraocular structures are also a target of insult by M. tuberculosis and may cause anterior granulomatous uveitis, anterior and posterior synechiae, secondary glaucoma, and cataract. The bacillus may involve the ciliary body, resulting in the formation of a localized caseating granuloma. Posterior segment manifestations include vitritis, retinal vasculitis, optic neuritis, serpiginous-like choroiditis, choroidal tubercules, subretinal neovascularization, and, rarely, endophthalmitis. The recognition of clinical signs of ocular tuberculosis is of utmost importance as it can provide clinical pathway toward tailored investigations and decision making for initiating anti-tuberculosis therapy.

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

Imaging of systemic lupus erythematosus. Part I: CNS, cardiovascular, and thoracic manifestations

International Nuclear Information System (INIS)

Goh, Y.P.; Naidoo, P.; Ngian, G.S.

2013-01-01

Systemic lupus erythematosus (SLE) is a chronic, multisystem autoimmune disease that has a relapsing and remitting course. It has a wide range of non-specific symptoms with various organ manifestations. In 1982, the American College of Rheumatology (ACR) published the revised criteria for the classification of SLE. The diagnosis of SLE may be made if four or more of the 11 ACR criteria are present, either serially or simultaneously, during any interval of observation. Whilst the diagnosis of SLE is based on clinical and laboratory features, with no universally accepted radiological diagnostic criteria, imaging is nonetheless useful for diagnosing specific organ manifestations, monitoring disease progression, and identifying complications secondary to immunosuppressive therapy. In this review, we describe the spectrum of radiological findings of SLE in various organ systems and compile a list of organ manifestations including the most frequently occurring diseases as well as the rare but not-to-be-missed diseases. This review aims to serve as a concise reference tool in an endeavour to assist clinicians and radiologists in the diagnosis and monitoring of this disease. This pictorial review presents the various radiological findings of CNS, cardiovascular and thoracic manifestation of SLE. The gastrointestinal, renal and musculoskeletal systems will be covered in part II.

Orofacial manifestations of hematological disorders: Anemia and hemostatic disorders

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Titilope A Adeyemo

2011-01-01

Full Text Available The aim of this paper is to review the literature and identify orofacial manifestations of hematological diseases, with particular reference to anemias and disorders of hemostasis. A computerized literature search using MEDLINE was conducted for published articles on orofacial manifestations of hematological diseases, with emphasis on anemia. Mesh phrases used in the search were: oral diseases AND anaemia; orofacial diseases AND anaemia; orofacial lesions AND anaemia; orofacial manifestations AND disorders of haemostasis. The Boolean operator "AND" was used to combine and narrow the searches. Anemic disorders associated with orofacial signs and symptoms include iron deficiency anemia, Plummer-Vinson syndrome, megaloblastic anemia, sickle cell anemia, thalassaemia and aplastic anemia. The manifestations include conjunctiva and facial pallor, atrophic glossitis, angular stomatitis, dysphagia, magenta tongue, midfacial overgrowth, osteoclerosis, osteomyelitis and paraesthesia/anesthesia of the mental nerve. Orofacial petechiae, conjunctivae hemorrhage, nose-bleeding, spontaneous and post-traumatic gingival hemorrhage and prolonged post-extraction bleeding are common orofacial manifestations of inherited hemostatic disorders such as von Willebrand′s disease and hemophilia. A wide array of anemic and hemostatic disorders encountered in internal medicine has manifestations in the oral cavity and the facial region. Most of these manifestations are non-specific, but should alert the hematologist and the dental surgeon to the possibilities of a concurrent disease of hemopoiesis or hemostasis or a latent one that may subsequently manifest itself.

Thoracic manifestations of ovarian hyperstimulation syndrome

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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.

Computed tomographic findings in manifesting carriers of Duchenne muscular dystrophy

NARCIS (Netherlands)

de Visser, M.; Verbeeten, B.

1985-01-01

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

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

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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

Focal status epilepticus as a manifestation of idiopathic hypertrophic cranial pachymeningitis.

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Navalpotro-Gómez, Irene; Vivanco-Hidalgo, Rosa María; Cuadrado-Godia, Elisa; Medrano-Martorell, Santiago; Alameda-Quitllet, Francisco; Villalba-Martínez, Gloria; Roquer, Jaume

2016-08-15

Idiopathic hypertrophic cranial pachymeningitis (IHCP) is an uncommon disease of unknown etiology characterized by thickening of the cerebral dura mater with possible associated inflammation. The most frequently described clinical symptoms include headache, cranial nerve palsy, and cerebellar dysfunction. Epilepsy and/or status epilepticus as main presentation is very uncommon. Two consecutive cases are presented of patients manifesting focal status epilepticus secondary to IHCP, with clinical, laboratory [blood test and cerebrospinal fluid (CSF) analysis], neuroradiologic [magnetic resonance imaging (MRI) at 3 Tesla and digital subtraction angiography (DSA)], and therapeutic data. One patient underwent meningeal biopsy; pathology findings are also included. Corticosteroid therapy resulted in clinical improvement in both cases, and neuroimaging showed decreased abnormal morphology, compared to initial findings. In the diagnostic approach to focal status epilepticus or epilepsy, IHCP must be considered a potential, although extremely infrequent, cause. Anti-inflammatory treatment is an effective addition to antiepileptic drug therapy in patients with IHCP. Copyright © 2016 Elsevier B.V. All rights reserved.

Oral manifestations of anemia in HIV/AIDS patients without ARV treatment

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Wahyu Hidayat

2017-03-01

Full Text Available Abstract Introduction: Acquired immunodeficiency syndrome (AIDS is  a set of symptoms caused by decreases of the immune system that was infected by human immunodeficiency virus (HIV. Blood disorders often found in patient with HIV and associated with HIV infection. Mostly found disorders is anemia of chronic disease. The prevalence of anemia in HIV/AIDS patients reaches 70%. Oral manifestations of anemia are atrophy of the papillae on tongue, glossodynia, pallor, angular cheilitis, glossitis, aphthous ulcers/erosive lesions, candidiasis, and geographic tongue. There are many publications that uses anemia as indicator to determine the prognosis of HIV infection, thus the description of oral manifestation of anemia in the non-ARV HIV/AIDS patients is a necessity. The purpose of this study was to describe the oral manifestation of anemia in the non-ARV HIV/AIDS patients. Methods: The methods used were purposive random sampling. Samples were new HIV/AIDS patients who have not got antiretroviral (ARV treatment. The study included 40 patients in Teratai Clinic Hasan Sadikin Hospital Bandung. Results: Oral manifestations of anemia were found amongst non-ARV HIV/AIDS patients, which were candidiasis in  37 patients, glossodynia in 28 patients, glossitis in 10 patients, and angular cheilitis in 1 patient. Conclusion: From the study found that oral manifestations of anemia that found in non-ARV HIV/AIDS patients were candidiasis, glossodynia, glossitis and angular cheilitis. HIV/AIDS patients with anemia needed to treat more intensive for better prognosis and quality of life. Keywords: Anemia, HIV/AIDS, Candidiasis, Glossitis, Glossodynia

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.

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

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

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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

The chest radiological manifestation in psittacosis

International Nuclear Information System (INIS)

Zhang Jun; Fu Jiazhen; Wang Shulan; Zhang Shuxin; Sun Guochang; Tang Guangjian

2005-01-01

Objective: To summarize the clinical characteristics and imaging features of psittacosis. Methods: The clinical features and imaging appearances of 3 cases with acute psittacosis were retrospectively analyzed. The related literature was reviewed. Results: The clinical manifestation of psittacosis was high fever in the patients. Physical findings included pulse-temperature dissociation, localized lung crackles, hepatomegaly, and splenomegaly. Laboratory findings showed elevation of ESR in all cases, and liver dysfunction was present in 2 cases. The counts of white blood cells were normal, but the percent of neutrophils might be increased. The chest X-ray and CT scan showed air-space consolidation and ground-glass attenuation in the lung, and miliary, nodular, or consolidated shadows were found in pathological areas. Pleural effusions were also present in 2 cases. Psittacosis was diagnosed from the history of exposure to infected parrots and elevation of the IgG and IgM titer for Chlamydia psittaci. Erythromycin was effective in all 3 patients. Conclusion: Although the appearance of psittacosis on clinical findings and chest X-ray and CT scan is not characteristic, psittacosis can be diagnosed with the combination of the history of exposure to infected parrots and laboratory findings. CT scan can reveal the focus earlier and accurately, and catching the imaging features of psittacosis is helpful in differential diagnosis. (authors)

Immunologic manifestations of autophagy

DEFF Research Database (Denmark)

Deretic, Vojo; Kimura, Tomonori; Timmins, Graham

2015-01-01

The broad immunologic roles of autophagy span innate and adaptive immunity and are often manifested in inflammatory diseases. The immune effects of autophagy partially overlap with its roles in metabolism and cytoplasmic quality control but typically expand further afield to encompass unique...... immunologic adaptations. One of the best-appreciated manifestations of autophagy is protection against microbial invasion, but this is by no means limited to direct elimination of intracellular pathogens and includes a stratified array of nearly all principal immunologic processes. This Review summarizes...... the broad immunologic roles of autophagy. Furthermore, it uses the autophagic control of Mycobacterium tuberculosis as a paradigm to illustrate the breadth and complexity of the immune effects of autophagy....

Pulmonary manifestations from systemic vasculitides; Pulmonale Manifestationen bei systemischen Vaskulitiden

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Reuter, M [Vivantes Klinikum Neukoelln, Berlin (Germany). Inst. fuer Radiologie und Interventionelle Therapie; Both, M [UKSH, Kiel (Germany). Klinik fuer Diagnostische Radiologie; Schnabel, A [Sana-Rheumazentrum Baden-Wuerttemberg, Bad Wildbad (Germany). Klinik fuer Internistische Rheumatologie und Klinische Immunologie

2007-06-15

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

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.

e-Manifest

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

Genetic alterations in syndromes with oral manifestations

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Krishnamurthy Anuthama

2013-01-01

Full Text Available Ever since Gregor Johan Mendel proposed the law of inheritance, genetics has transcended the field of health and has entered all walks of life in its application. Thus, the gene is the pivoting factor for all happenings revolving around it. Knowledge of gene mapping in various diseases would be a valuable tool in prenatally diagnosing the condition and averting the future disability and stigma for the posterity. This article includes an array of genetically determined conditions in patients seen at our college out-patient department with complete manifestation, partial manifestation and array of manifestations not fitting into a particular syndrome.

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

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...

Prevalence of cutaneous manifestations of diabetes mellitus

International Nuclear Information System (INIS)

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

2009-01-01

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

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

International Nuclear Information System (INIS)

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

1991-01-01

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

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.

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)

Mucocutaneous manifestations in patients with chronic kidney disease: A cross-sectional study

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Rattan S Rashpa

2018-01-01

Full Text Available Background: Chronic kidney disease (CKD-associated mucocutaneous manifestations significantly impair the quality of life but often remain understudied. They may also vary across regions, socioeconomic and nutritional status, and racial differences. Objectives: To study the patterns of mucocutaneous disorders and their prevalence in CKD patients irrespective of clinical stage or dialysis status. Materials and Methods: 122 (M:F = 77:45 patients aged 21‒85 (Mean ± SD = 57.5 ± 14.0 years having CKD for 3 month to 5 years were studied for mucocutaneous manifestations. Fifty (41% patients were on hemodialysis for 1‒42 months. Detailed medical history, clinical and mucocutaneous examination, and lab investigations were performed. KOH mounts, skin biopsy, Gram's and Giemsa staining, bacterial or fungal cultures were performed as required. Results: Xerosis in 93 (76.2%, skin pallor in 61 (50%, pruritus in 57 (46.7%, pigmentation in 47 (38.5%, and purpura in 18 (14.8% patients were the major dermatoses. Bullous lesions and perforating folliculitis occurred in 3 (2.5% patients each. Major nail abnormalities were pallor (in 35.2%, absent lunula (in 23.8%, nail discoloration (in 18%, and “half-and-half nails” in 16.4% patients, respectively. Hair abnormalities included sparse scalp and body hairs (in 35.2% and 13.1%, respectively and lusterless hair in 12.3% patients. Coated tongue (in 14.8%, xerostomia (in 12.3%, and macroglossia with teeth indention (in 7.4% patients were the mucosal manifestations. Conclusions: Xerosis, pruritus, skin pallor/pigmentary changes, nail pallor, absent lunula, nail discoloration, sparse hairs, coated tongue, xerostomia, macroglossia, and infections were the most common mucocutaneous manifestations in the studied patients irrespective of hemodialysis status. Cold and dry climates might be additional aggravators for xerosis/pruritus. Lifelong follow-up may be needed to reduce the morbidity associated with CKD

Corneal manifestations of selected systemic diseases: A review

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Wayne D.H. Gillan

2015-08-01

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

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.

Gastrointestinal symptomatology as first manifestation of systemic erythematous lupus

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Kovačević Zoran

2009-01-01

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

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

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Attiyeh Vasaghi; Amir Kalafi

2012-01-01

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

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.

Musculoskeletal manifestations of bacterial endocarditis

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Érika Bevilaqua Rangel

2000-09-01

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

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.

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

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

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

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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.

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

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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.

dermatology cutaneous manifestations of hiv/aids: part i

African Journals Online (AJOL)

Enrique

2004-11-01

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

Vertigo as a Predominant Manifestation of Neurosarcoidosis

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Tasnim F. Imran

2015-01-01

Full Text Available Sarcoidosis is a granulomatous disease of unknown etiology that affects multiple organ systems. Neurological manifestations of sarcoidosis are less common and can include cranial neuropathies and intracranial lesions. We report the case of a 21-year-old man who presented with vertigo and uveitis. Extensive workup including brain imaging revealed enhancing focal lesions. A lacrimal gland biopsy confirmed the diagnosis of sarcoidosis. The patient was initially treated with prednisone, which did not adequately control his symptoms, and then was switched to methotrexate with moderate symptomatic improvement. Our patient had an atypical presentation with vertigo as the predominant manifestation of sarcoidosis. Patients with neurosarcoidosis typically present with systemic involvement of sarcoidosis followed by neurologic involvement. Vertigo is rarely reported as an initial manifestation. This case highlights the importance of consideration of neurosarcoidosis as an entity even in patients that may not have a typical presentation or systemic involvement of disease.

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

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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.

Clinical presentation and evaluation of dermatomyositis

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Umaima Marvi

2012-01-01

Full Text Available Dermatomyositis (DM is a chronic inflammatory disorder of the skin and muscles. Evidence supports that DM is an immune-mediated disease and 50-70% of patients have circulating myositis-specific auto-antibodies. Gene expression microarrays have demonstrated upregulation of interferon signaling in the muscle, blood, and skin of DM patients. Patients with classic DM typically present with symmetric, proximal muscle weakness, and skin lesions that demonstrate interface dermatitis on histopathology. Evaluation for muscle inflammation can include muscle enzymes, electromyogram, magnetic resonance imaging, and/or muscle biopsy. Classic skin manifestations of DM include the heliotrope rash, Gottron′s papules, Gottron′s sign, the V-sign, and shawl sign. Additional cutaneous lesions frequently observed in DM patients include periungual telangiectasias, cuticular overgrowth, "mechanic′s hands", palmar papules overlying joint creases, poikiloderma, and calcinosis. Clinically amyopathic DM is a term used to describe patients who have classic cutaneous manifestations for more than 6 months, but no muscle weakness or elevation in muscle enzymes. Interstitial lung disease can affect 35-40% of patients with inflammatory myopathies and is often associated with the presence of an antisynthetase antibody. Other clinical manifestations that can occur in patients with DM include dysphagia, dysphonia, myalgias, Raynaud phenomenon, fevers, weight loss, fatigue, and a nonerosive inflammatory polyarthritis. Patients with DM have a three to eight times increased risk for developing an associated malignancy compared with the general population, and therefore all patients with DM should be evaluated at the time of diagnosis for the presence of an associated malignancy. This review summarizes the immunopathogenesis, clinical manifestations, and evaluation of patients with DM.

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

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

2016-01-01

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

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.

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

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

1996-07-01

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

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

International Nuclear Information System (INIS)

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

1996-01-01

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

Achondroplasia: Craniofacial manifestations and considerations in dental management

OpenAIRE

Al-Saleem, Afnan; Al-Jobair, Asma

2010-01-01

Achondroplasia is the most common form of skeletal dysplasia dwarfism that manifests with stunted stature and disproportionate limb shortening. Achondroplasia is of dental interest because of its characteristic craniofacial features which include relative macrocephaly, depressed nasal bridge and maxillary hypoplasia. Presence of large head, implanted shunt, airway obstruction and difficulty in head control require special precautions during dental management. Craniofacial manifestations and c...

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.

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

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

2005-09-01

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

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...

The New Hamburg-Hannover Agitation Scale in Clinical Samples: Manifestation and Differences of Agitation in Depression, Anxiety, and Borderline Personality Disorder.

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Jung, Stefanie; Proske, Miriam; Kahl, Kai G; Krüger, Tillmann H C; Wollmer, M Axel

2016-01-01

Agitation is a burdening phenomenon that occurs in a variety of psychiatric disorders. The aim of this study was to give a first direction for agitation occurrence in depression, anxiety disorder, and borderline personality disorder (BPD) as well as in healthy controls with and without psychiatric record. Using the Hamburg-Hannover Agitation Scale (H2A), an instrument that allows for the measurement of agitation independently of the presence of a specific disorder, a patient sample (n = 158) and a healthy control group (n = 685) with (n = 94) and without (n = 591) psychiatric record were examined. The data were mainly analysed using ANOVAs and post hoc tests. Patients showed significantly higher H2A agitation levels than healthy controls. Within the clinical sample, BPD patients exhibited the strongest manifestation of agitation, scoring significantly higher than the depression and the anxiety disorder sample, while these two subgroups did not significantly differ from each other. Moreover, healthy subjects with a psychiatric record experienced a significantly stronger agitation than subjects without a psychiatric record. Further studies are needed with larger, more balanced, and differentiated sample sizes including a wider range of clinical pictures. The results demonstrate that agitation occurs and differs in psychiatric patients as well as in healthy controls. © 2016 S. Karger AG, Basel.

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)

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.

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

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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

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

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

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

[Atypical manifestations in familial type 1 Waardenburg syndrome].

Science.gov (United States)

Sans, B; Calvas, P; Bazex, J

1998-01-01

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

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.

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

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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.

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

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Attiyeh Vasaghi

2012-09-01

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

Neurofibromatosis 1 vasculopathy manifesting as a peripheral aneurysm in an adolescent

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Farmakis, Shannon G.; Khanna, Geetika [Washington University School of Medicine, Mallinckrodt Institute of Radiology, St. Louis, MO (United States); Han, Min; White, Frances [Washington University School of Medicine, Department of Pathology and Immunology, St. Louis, MO (United States)

2014-10-15

Arterial vasculopathy is a well-recognized but uncommon manifestation of neurofibromatosis type 1 (NF-1). It can manifest as stenoses, aneurysms or arteriovenous malformations. NF-1 vasculopathy typically involves the aorta, visceral arteries or carotid-vertebral circulation. Aortic and visceral vasculopathy typically presents as stenotic lesions, while aneurysms have been reported primarily in the subclavian/vertebral arteries. Aneurysms of the peripheral/extremity arteries are an extremely rare complication of NF-1 that may present as a mass or spontaneous rupture. We present the case of a teenage boy with an arm mass secondary to an aneurysm. We hope this case will increase recognition of the variable clinical manifestations of NF-1 vasculopathy among radiologists. (orig.)

Uterine fibroids: clinical manifestations and contemporary management.

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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.

Deep Vein Thrombosis as Initial Manifestation of Whipple Disease

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Mônica Souza de Miranda Henriques

2016-11-01

Full Text Available Introduction: Wipple disease (WD is a rare chronic disease caused by the bacillus Tropheryma whipplei. Constitutive, rheumatologic, gastrointestinal, cardiac, cerebral, lymphatic, cutaneous, and ophthalmological signs are possible systemic symptoms. However, thrombotic manifestations are rarely described as “stroke-like syndrome” or arterial thrombosis. Diagnosis is based on clinical manifestations and pathological examination. Laboratory findings may include anemia, leukocytosis, and thrombocytosis. Objective: We report a case of venous thrombosis as initial manifestation of WD. Case Report: We describe the case of a 53-year-old male with iliofemoral vein thrombosis followed by intermittent diarrhea, loss of appetite, abdominal distension, and bloating. A mild malnutrition state with a weight loss of 13 kg, pallor (+/4 +, presence of lower-limb edema (+/4 +, and hypertympanic distended abdomen occurred. Laboratory tests on admission revealed anemia, positive inflammatory activity tests, and normal coagulation. Endoscopic examination showed villous edema with white dotted infiltrates in the second duodenal portion and intestinal lymphangiectasia in the terminal ileum. Pathological examination revealed numerous macrophages with positive periodic acid-Schiff inclusions. Venous Doppler ultrasound showed extensive deep thrombosis on the left lower limb and recanalization of the femoral vein in the right lower limb. The patient was treated with ceftriaxone and enoxaparin sodium, which led to an improvement of gastrointestinal and thrombosis symptoms. Comments: Hypercoagulability, endothelial damage, vasculitis, and blood stasis are present in T. whipplei infection, which are associated with the activation of inflammatory mechanisms as well as procoagulant and thromboembolic events. WD should be part of the differential diagnosis of diseases that cause venous thrombosis of unknown origin.

Correlation between atopic manifestation and lung toxicity following chest irradiation for breast cancer

International Nuclear Information System (INIS)

Hirota, Saeko; Shimizu, Tadafumi; Kubota, Satoshi

2007-01-01

The purpose of this study was to identify the impact of atopic manifestations on the occurrence of the lung toxicity following chest irradiation for breast cancer. Collection of 1,173 patients who had undergone radiotherapy on their 1,177 chest walls or postsurgical mammary glands at 9 institutions including ours. They received treatment consecutively from December 1980 through October 2005, with which we formed the basis of this analysis. Patients with any of the following medical history were defined as having atopic manifestations (n=111): asthma, allergic rhinitis, atopic dermatitis, contact dermatitis, and allergy to food or drug. Of them, patients who were observed for at least 6 months or who suffered from lung toxicity at any time, were classified as Group A (n=85). On the other hand, patients in our institute who were observed for at least 6 months or who suffered from lung toxicity at any time regardless of atopic manifestations, were classified as Group B (n=113), and patients without any atopic manifestation were classified as Group C (n=92). Grade 3 or higher lung toxicity in National Cancer Institute, Common Toxicity Criteria for Adverse Events (NCI-CTCAE) (v 3.0), occurred in 8.2%, id est (i.e.) 7 cases, of Group A, 2.7% of Group B, and 1.1% of Group C (p=0.0293 Group C against Group A). Three cases were classified as classical pneumonitis, and the other 4 sporadic pneumonitis such as Cryptogenic Organizing Pneumonia and Chronic Eosinophilic Pneumonia. Both of the histologically proven COP and CEP patients showed atopic manifestations in our institute. The detail clinical features are described in the main text. Having atopic manifestations suggests that there may be risk of lung toxicity following chest irradiation for breast cancer. (author)

The clinical manifestations of HIV infections in adults presenting to Khartoum state and the incidence of pulmonary tuberculosis among them

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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.

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

[Manifestation of first branchial anomaly:56 cases reportrhinitis].

Science.gov (United States)

Zhang, B; Chen, L S; Huang, S L; Liang, L; Wu, P N; Zhang, S Y; L, Z M; Liang, L

2016-09-05

Objective: To sum up and conclude manifestation of congenital first branchial anomaly(CFBCA). Method: The clinical data of 56 patients from 2005 to 2015 in our hospital were retrospective reviewed. Result: Manifestation:mass without pain(26.8%),repeated sore and discharge(71.4%),otological symptom(external auditory discharge､hearing loss,28.6%).Eleven cases bacterial sample showed positive result,and most of them show pseudomonas aeruginosa and staphylococcus aureus.Auricular endoscopy typically performed stricture of external auditory canal,cholesteatoma samples accumulated in ear canal,fistula at the conjunction of the bone and cartilage and tympanic membranous attachment.Typical performance of CT(MRI)was that there were cystic,lobulated or tubular abnormal shadow related with ear canal in Pochet's triangle area whose cyst wall or pipe wall could been enhanced in enhanced CT(MRI) scans,and part of that could be connected with skin.The statistical difference between type Oslen and Work and clinical characteristics( P <0.01),and the relationship between type Oslen and Work( P <0.01).Most of Work Ⅰ were cyst type,and these two type often had no infected symptom.Most of them were young patients.Most of Work Ⅱ were sinus and fistula type ,and these two type often had infected symptom.Most of them were teenagers.Part of patients of type Work Ⅱ showed tympanic membranous attachment. Conclusion: CFBCA was rare,and it is more common in young patients and often in left part.It always performed as mass without pain､repeated sore and discharge､external auditory discharge.Most of Work Ⅰ were cyst type,and these two type often had no infected symptom and most of them were young patients .Most of Work Ⅱ were sinus and fistula type,and these two type often had infected symptom and most of them were teenagers.Auricular endoscopy,CT,MRI could help make diagnose.Doctors clinical need to differentiate it with related diseases according to different manifestations

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....

CT manifestations of liver abscess

International Nuclear Information System (INIS)

Yan Jianfeng; Peng Yongjun

2006-01-01

Objective: To study CT findings of hepatic abscess. Methods: CT findings and clinical materials of 38 patients with liver abscess verified by aspiration were retrospectively viewed. All patients were examined by non-enhanced and contrast enhanced CT. Results: In 25 cases, inhomogeneous hypodense lesions with unclear demarcation were found on non-enhanced CT. On contrast enhanced CT scan, target or cluster enhancement was found Additionally, air was found within some lesions. In the rest 13 cases with early stage liver abscess, no typical sign was found on non-enhanced CT, while rosette sign and continued enhancement sign were demonstrated after the contrast agent was given. Conclusion: Various CT findings are found in different stages of liver abscess. The diagnosis and differential diagnosis should be based on CT manifestations and clinical history as well. (authors)

Autonomic neuropathy-in its many guises-as the initial manifestation of the antiphospholipid syndrome.

Science.gov (United States)

Schofield, Jill R

2017-04-01

Autonomic disorders have previously been described in association with the antiphospholipid syndrome. The present study aimed to determine the clinical phenotype of patients in whom autonomic dysfunction was the initial manifestation of the antiphospholipid syndrome and to evaluate for autonomic neuropathy in these patients. This was a retrospective study of 22 patients evaluated at the University of Colorado who were found to have a disorder of the autonomic nervous system as the initial manifestation of antiphospholipid syndrome. All patients had persistent antiphospholipid antibody positivity and all patients who underwent skin biopsy were found to have reduced sweat gland nerve fiber density suggestive of an autonomic neuropathy. All patients underwent an extensive evaluation to rule out other causes for their autonomic dysfunction. Patients presented with multiple different autonomic disorders, including postural tachycardia syndrome, gastrointestinal dysmotility, and complex regional pain syndrome. Despite most having low-titer IgM antiphospholipid antibodies, 13 of the 22 patients (59%) suffered one or more thrombotic event, but pregnancy morbidity was minimal. Prothrombin-associated antibodies were helpful in confirming the diagnosis of antiphospholipid syndrome. We conclude that autonomic neuropathy may occur in association with antiphospholipid antibodies and may be the initial manifestation of the syndrome. Increased awareness of this association is important, because it is associated with a significant thrombotic risk and a high degree of disability. In addition, anecdotal experience has suggested that antithrombotic therapy and intravenous immunoglobulin therapy may result in significant clinical improvement in these patients.

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.

Leukemic Oral Manifestations and their Management.

Science.gov (United States)

Francisconi, Carolina Favaro; Caldas, Rogerio Jardim; Oliveira Martins, Lazara Joyce; Fischer Rubira, Cassia Maria; da Silva Santos, Paulo Sergio

2016-01-01

Leukemia is the most common neoplastic disease of the white blood cells which is important as a pediatric malignancy. Oral manifestations occur frequently in leukemic patients and may present as initial evidence of the disease or its relapse. The symptoms include gingival enlargement and bleeding, oral ulceration, petechia, mucosal pallor, noma, trismus and oral infections. Oral lesions arise in both acute and chronic forms of all types of leukemia. These oral manifestations either may be the result of direct infiltration of leukemic cells (primary) or secondary to underlying thrombocytopenia, neutropenia, or impaired granulocyte function. Despite the fact that leukemia has long been known to be associated with oral lesions, the available literature on this topic consists mostly of case reports, without data summarizing the main oral changes for each type of leukemia. Therefore, the present review aimed at describing oral manifestations of all leukemia types and their dental management. This might be useful in early diagnosis, improving patient outcomes.

Imaging the Abdominal Manifestations of Cystic Fibrosis

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C. D. Gillespie

2017-01-01

Full Text Available Cystic fibrosis (CF is a multisystem disease with a range of abdominal manifestations including those involving the liver, pancreas, and kidneys. Recent advances in management of the respiratory complications of the disease has led to a greater life expectancy in patients with CF. Subsequently, there is increasing focus on the impact of abdominal disease on quality of life and survival. Liver cirrhosis is the most important extrapulmonary cause of death in CF, yet significant challenges remain in the diagnosis of CF related liver disease. The capacity to predict those patients at risk of developing cirrhosis remains a significant challenge. We review representative abdominal imaging findings in patients with CF selected from the records of two academic health centres, with a view to increasing familiarity with the abdominal manifestations of the disease. We review their presentation and expected imaging findings, with a focus on the challenges facing diagnosis of the hepatic manifestations of the disease. An increased familiarity with these abdominal manifestations will facilitate timely diagnosis and management, which is paramount to further improving outcomes for patients with cystic fibrosis.

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

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Fiskin, Gamze; Kaydirak, Meltem Mecdi; Oskay, Umran Yesiltepe

2017-02-01

High-risk pregnancy research has focused primarily on psychological well-being. The aim is to determine psychosocial adaptation and depression levels of pregnant women who were admitted to hospital with diagnosis of high-risk pregnancy. This study was descriptive. Sampling was composed of 122 high-risk pregnant women who were hospitalized in the perinatology service of Istanbul University Medical School, Department of Obstetrics and Gynecology between January 1, 2014, and May 31, 2014, and met the study criteria. The Pregnant Introduction Form, Psychosocial Adjustment of Illness Scale-Self Report, and CES Depression Scale were used. Of high-risk pregnant women, 47% were found to have a poor level of psychosocial adaptation and 57% presented with depressive symptoms. There were statistically significant difference found between the levels of psychosocial adaptation and status of depressive manifestations. The difference between the average scores increased as the adaptation levels weaken and the pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. The results of this study indicate that, depending on the high-risk pregnancy status, pregnant women experience difficulty in adaptation to their current status and pregnant women with a poor level of psychosocial adaptation showed more depressive manifestations. Nurses should deliver care in high-risk pregnancies with the awareness of physiological needs as well the psychosocial needs of pregnant women, and information meetings should be held in order to increase the psychosocial support of their families and decrease their tendency toward depression. Nursing initiatives should be developed with further studies for the psychosocial adaptation of high-risk pregnancy and reduction of the depressive manifestations. © 2016 Sigma Theta Tau International.

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

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Mohamad Abid Keen

2016-01-01

Full Text Available Introduction: Thyroid hormones are instrumental in regulating the health and appearance of skin and when the thyroid gland becomes underactive or overactive, a variety of skin problems result. These dermatologic manifestations may occur secondary to the abnormal thyroid hormone levels or due to the presence of thyroid autoantibodies that interact with skin components. Aims: The present study was designed to ascertain the varied cutaneous manifestations of hyperthyroidism. Methods: This was a hospital based cross sectional study conducted over a period of one year. A total of forty diagnosed cases of hyperthyroidism constituted the subject material for the study and were evaluated for the presence of any cutaneous manifestation. Results: In our study group of 40 patients, the predominant cutaneous symptom was increased sweating (80%, followed by heat intolerance (42.5%. The predominant cutaneous sign in hyperthyroid patients was increased skin temperature, noticed in 47.5% of patients. This was followed by soft, smooth and velvety skin (37.5%, palmar erythema (35%, fine thin hair (22.5% and hyperpigmentation (10%. Conclusions: The interaction between thyroid gland and skin is very complex. So, dermatologists need to be cognizant of the ways in which these two organs interact.

A study on etiologic agents and clinical manifestations of dermatophytosis in Yazd, Iran

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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

A clinical approach to Lyme disease.

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Nadelman, R B; Wormser, G P

1990-05-01

Lyme disease (also known as Lyme borreliosis) is an emerging, newly described infectious disease with diverse clinical manifestations. The disease is caused by the spirochetal agent Borrelia burgdorferi, which is transmitted to humans by the bite of certain species of Ixodes ticks harboring the organism. The most readily identifiable clinical feature is the distinctive skin lesion, erythema migrans. If recently infected patients go untreated, approximately 15% will develop neurologic conditions (most commonly facial nerve palsy), 8% will develop myocarditis (typically with heart block), and 60% will develop migratory mono- or pauci-articular arthritis. Diagnosis depends on clinical suspicion, recognition of the characteristic signs and symptoms, and appropriate testing for antibody to B. burgdorferi. Serology for Lyme disease, although in need of better standardization, is most useful in diagnosing patients with manifestations of Lyme disease other than erythema migrans. All manifestations of Lyme disease are potentially treatable with either a beta-lactam antibiotic (for instance penicillin, amoxicillin, or ceftriaxone) or a tetracycline preparation. However, the optimal antimicrobial regimen, including choice of drug, drug dose, route of administration, and length of therapy, is unknown. Other important areas for future research include Ixodes biology and control, improved laboratory tests for diagnosis and for assessing response to therapy, and vaccine development.

Depression-dementia medius: between depression and the manifestation of dementia symptoms.

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Kobayashi, Toshiyuki; Kato, Satoshi

2011-09-01

Depression and dementia, among the most common conditions in clinical practice, sometimes coexist, sometimes succeed each other, and often confuse clinicians. In the present paper, the clinical concept of 'depression-dementia medius' (which includes pseudodementia and depression in Alzheimer's disease as exemplars) is proposed, in reference to Janet's concept of psychological tension. Because psychosomatically complex human lives are always in a state of dynamic equilibrium, it seems sensible to propose that pseudodementia and depression in Alzheimer's disease are located within a spectrum extending from depression without dementia symptoms to dementia without depression. From the Janetian viewpoint, pseudodementia is regarded as uncovered latent dementia as a result of reduced psychological tension. Dementia is more than a fixed progressive condition under this view, and is a manifestation of dynamic mental activities. Characterizing these entities through perspectives such as psychological tension may yield deep insights in clinical practice. © 2011 The Authors. Psychogeriatrics © 2011 Japanese Psychogeriatric Society.

Isolated breast vasculitis manifested as breast edema with suggestive sonographic findings: a case report with imaging findings.

Science.gov (United States)

Lee, Ji Young; Joo, Mee

2017-04-01

Early diagnosis of breast vasculitis (BV) is difficult because this condition is rare and occasionally mimics breast cancer clinically or radiologically. It may present as systemic disease or as an isolated lesion in the breast, without systemic evidence. When vasculitis appears in the breast, it also might manifest as a tumor-like lesion, and in previous cases, tissue acquisition was needed for confirmation of the diagnosis because of BV's resemblance to inflammatory breast cancer. We report a case of isolated BV that was suspected of being inflammatory breast cancer clinically, but manifested as bilateral breast edema on mammography. In this case, sonographic findings included not only nonspecific edema findings that might be seen in other cases, but also suggestive findings of hypoechoic circumferential arterial wall thickening with perivascular fat infiltrations that are similar to the halo sign in large arteries but have not been reported in the breast. These are helpful for presumptive diagnosis of BV using ultrasound.

Ocular manifestations of systematic lupus erythematosus in children

International Nuclear Information System (INIS)

Al-Mayouf, Sulaiman M.; Al-Hemidan, Amal I.

2003-01-01

To determine the prevalence and spectrum of ocular manifestations in children with systematic lupus erythematosus (SLE) and to examine the correlation of the ocular manifestations with disease activity , other organ involvement and the presence of circulating of autoantibodies. This study was performed at King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia from June 2002 to November 2002. It included detailed eye examination, measuring circulating autoantibodies (antinuclear,anti phospholipid antibodies) and circulation of SLE disease activity index (SLEDAI). 52 consecutive children (45 females) with SLE completed the evaluation .The mean age of the patients was 11.3 years and the mean SLEDAI was 9.5 Thirty patients (57.7%) had the disease for more than 1 year. 18 patients(34.6%) had ocular manifestations.7 patients had abnormal . Schirmer's test. 5 patients had ratinal vascular lesions. 1 patient had bilateral iridocyclitis. 3 patients had unilateral optic neuropathy and 11 patients had visual field defects.Fisher extract test revealed positive correlation between optic neuropathy and central nervous system(CNS) involvement. There was no correlation among other variables; probably due to sample size. Ocular manifestations including sight threatening complications are not rare in children with SLE.Optic neuropathy had a strong prediction for CNS lupus. (author)

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

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

2018-01-01

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

What rheumatologists should know about orofacial manifestations of autoimmune rheumatic diseases.

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Abrão, Aline Lauria Pires; Santana, Caroline Menezes; Bezerra, Ana Cristina Barreto; Amorim, Rivadávio Fernandes Batista de; Silva, Mariana Branco da; Mota, Licia Maria Henrique da; Falcão, Denise Pinheiro

2016-02-11

Orofacial manifestations occur frequently in rheumatic diseases and usually represent early signs of disease or of its activity that are still neglected in clinical practice. Among the autoimmune rheumatic diseases with potential for oral manifestations, rheumatoid arthritis (RA), inflammatory myopathies (IM), systemic sclerosis (SSc), systemic lupus erythematosus (SLE), relapsing polychondritis (RP) and Sjögren's syndrome (SS) can be cited. Signs and symptoms such as oral hyposalivation, xerostomia, temporomandibular joint disorders, lesions of the oral mucosa, periodontal disease, dysphagia, and dysphonia may be the first expression of these rheumatic diseases. This article reviews the main orofacial manifestations of rheumatic diseases that may be of interest to the rheumatologist for diagnosis and monitoring of autoimmune rheumatic diseases. Copyright © 2016 Elsevier Editora Ltda. All rights reserved.

Oral Manifestations in Pediatric Patients with Coeliac Disease - A Review Article.

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Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso E Silva, Diana Maria; de Andrade, David José Casimiro

2017-01-01

Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were "coeliac disease ","oral manifestations ", "dental enamel defects", "recurrent aphthous stomatitis" and "oral aphthous ulcers". There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease.

Central nervous system involvement in primary Sjogren`s syndrome manifesting as multiple sclerosis.

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Liu, Jing-Yao; Zhao, Teng; Zhou, Chun-Kui

2014-04-01

Central nervous system symptoms in patients with primary Sjogren`s syndrome are rare. They can present as extraglandular manifestations and require a differential diagnosis from multiple sclerosis. Due to a variety of presentations, Sjogren`s syndrome with neurologic involvement may be difficult to diagnose. Here, we report a case of a 75-year-old woman who was first diagnosed with multiple sclerosis in 2010, but who was subsequently diagnosed with primary Sjogren`s syndrome 2 years later after showing signs of atypical neurologic manifestations. Therefore, primary Sjogren`s syndrome should be suspected in patients who present with atypical clinical and radiologic neurologic manifestations.

Neuro-ophthalmological manifestations of neurosyphilis in 22 cases

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Xiao-Juan Fan

2017-10-01

Full Text Available AIM: To analyze the characteristics of neurological ophthalmology manifestation of patients with neurosyphilis.METHODS: Retrospective and nonrandomized case analysis were used. Totally 22 cases of 39 eyes were included. They were 17 males and 5 females, aged from 34 to 65 years old. The average age were 49.6 years old. RESULTS: The optic nerve atrophy presented in 11 cases of 22 eyes. One eye of them accompanied by left eye oculomotor nerve palsy; 5 eyes in 3 cases expressed as optic neuritis acute phase; neuroretinitis appeared in 4 cases of 6 eyes; 1 case of 2 eyes expressed as chorioretinitis accompanied by optic disc edema; central retinal artery occlusion were found in 1 case of 1 eye. Argyll-Robertson pupil was as only manifestation in 2 cases of 3 eyes. In all cases, Argyll-Robertson pupil signs can be seen in 19 eyes. Treponema pallidum particle agglutination test(TPPAwere positive in all 22 cases. Syphilis rapid plasma reactin test(RPRwere positive in 19 of 21 cases. All patients underwent lumbar puncture and cerebrospinal fluid were detected for RPR, cerebrospinal fluid protein, white blood cell count. Cerebrospinal fluid RPR were positive in 13 cases. Cerebrospinal fluid protein were greater than 450mg/L in 18 cases. Cerebrospinal fluid white blood cell count were greater than 5/mm3 in 13 cases. CONCLUSION: Neurosyphilis involving neuro-ophthalmology often occurs in middle-aged men and subacute onset. Both eyes can suffered from optic nerve disease simultaneously or sequencely. A few can be expressed as other cranial nerve palsy, which may lead to misdiagnosis. Considering medical history, clinical manifestations, ophthalmic examination, serum and cerebrospinal fluid laboratory tests can improve the diagnostic rate.

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

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Elsa Aburto-Mejía

2017-01-01

Full Text Available Background. Metabolic and genetic factors induce plasminogen activator inhibitor type-1 (PAI-1 overexpression; higher PAI-1 levels decrease fibrinolysis and promote atherothrombosis. Aim. To assess PAI-1 antigen levels among subjects with type 2 diabetes mellitus (T2DM plus Metabolic Syndrome (MetS before clinical manifestations of atherothrombosis and the contribution of metabolic factors and 4G/5G polymorphism of PAI-1 gene on the variability of PAI-1. Methods. We conducted an observational, cross-sectional assay in a hospital in Mexico City from May 2010 to September 2011. MetS was defined by the International Diabetes Federation criteria. PAI-1 levels and 4G/5G polymorphism were determined by ELISA and PCR-RFLP analysis. Results. We enrolled 215 subjects with T2DM plus MetS and 307 controls. Subjects with T2DM plus MetS had higher PAI-1 levels than the reference group (58.4 ± 21 versus 49.9 ± 16 ng/mL, p=0.026. A model with components of MetS explained only 12% of variability on PAI-1 levels (R2 = 0.12; p=0.001, with β=0.18 (p=0.03 for hypertension, β=-0.16 (p=0.05 for NL HDL-c, and β=0.15 (p=0.05 for NL triglycerides. Conclusion. Subjects with T2DM plus MetS have elevated PAI-1 levels before clinical manifestations of atherothrombotic disease. Metabolic factors have a more important contribution than 4G/5G polymorphism on PAI-1 plasma variability.

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

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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

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

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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.

[Neurologic manifestations associated with antiphospholipid antibodies. Or what remains of neurolupus?].

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Hachulla, E; Leys, D; Deleume, J F; Pruvo, J P; Devulder, B

1995-01-01

Antiphospholipid antibody is associated with a clinical syndrome of vascular thrombosis, thrombocytopenia, recurrent fetal loss and livedo reticularis, whether or not a clinical diagnosis of systemic lupus erythematosus (SLE) coexists. Central nervous system involvement in SLE is multifactorial, thrombotic events, antineuronal antibodies, hypertension, infection, side effects of drugs etc. Antiphospholipid antibodies may play a role in focal neurological manifestations in SLE. In the absence of SLE, different neurological symptoms are well associated with antiphospholipid antibodies including stroke, seizures, dementia, migraine, ocular ischemia, chorea, transverse myelopathy, cerebral phlebitis. Other association are more controversal like Guillain Barré syndrome, motor neuron disease, communicating hydrocephalus. In all patients with antiphospholipid antibodies with neurological involvement, cerebral MRI may be performed with an echocardiographic study because a possible association with Libman and Sacks endocarditis, valve dysfunction or cardiac thrombus source of cerebral ischemia.

Spontaneous Pneumomediastinum: Case Presentation to a College Student Health Clinic

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Spotts, P. Hunter

2017-01-01

The author describes a case of spontaneous pneumomediastinum (SPM) in a 19-year-old man presenting to a college student health clinic. The author also provides a review on SPM, including clinical manifestations, diagnostic evaluation, and management.

Ocular Adnexal and Anterior Segment Manifestations of HIV/AIDS ...

African Journals Online (AJOL)

Background: Benue State has the highest rate of sero-prevalence to human immuno virus (HIV) infections among the ten hyper-endemic states in Nigeria. This study evaluates the pattern of ocular adnexal and anterior segment manifestations in HIV/AIDS patients attending the HIV clinic at the NAF Hospital in Makurdi, ...

Constitutional FLCN mutations in patients with suspected Birt-Hogg-Dubé syndrome ascertained for non-cutaneous manifestations.

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Maffé, A; Toschi, B; Circo, G; Giachino, D; Giglio, S; Rizzo, A; Carloni, A; Poletti, V; Tomassetti, S; Ginardi, C; Ungari, S; Genuardi, M

2011-04-01

Birt-Hogg-Dubé syndrome (BHDS) is characterized by a clinical triad including cutaneous hamartomas originating from hair follicles, lung cysts/pneumothorax, and kidney tumors. Inactivating mutations of the tumor suppressor gene FLCN are identified in most families with BHDS. Usually, patients are referred for genetic examination by dermatologists because of the presence of typical multiple skin tumors with or without additional symptoms. However, because of phenotypic variability and incomplete penetrance, the clinical presentation of BHDS is not yet fully defined. Criteria for genetic testing and diagnosis that take into account variable manifestations have recently been proposed by the European BHD Consortium. We sequenced the FLCN gene coding region in a series of 19 patients selected for kidney and/or lung manifestations. Overall, FLCN mutations were found in 9 of 19 (47%) families and were detected only in probands who had either >2 components of the clinical triad or a single component (renal or pulmonary) along with a family history of another main BHDS manifestation. Typical cutaneous lesions were present only in 8 of 21 FLCN mutation carriers aged >20 years identified in the mutation-positive families. In addition, we provide clinical and molecular evidence that parotid oncocytoma, so far reported in six BHDS cases, is associated with this condition, based on the observation of a patient with bilateral parotid involvement and marked reduction of the wild-type FLCN allele signal in tumor DNA. Overall, the results obtained in this study contribute to the definition of the phenotypic characteristics that should be considered for BHDS diagnosis and FLCN mutation testing. © 2010 John Wiley & Sons A/S.

The skin as a window to the blood: Cutaneous manifestations of myeloid malignancies.

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Li, Alvin W; Yin, Emily S; Stahl, Maximilian; Kim, Tae Kon; Panse, Gauri; Zeidan, Amer M; Leventhal, Jonathan S

2017-11-01

Cutaneous manifestations of myeloid malignancies are common and have a broad range of presentations. These skin findings are classified as specific, due to direct infiltration by malignant hematopoietic cells, or non-specific. Early recognition and diagnosis can have significant clinical implications, as skin manifestations may be the first indication of underlying hematologic malignancy, can reflect the immune status and stage of disease, and cutaneous reactions may occur from conventional and targeted agents used to treat myeloid disease. In addition, infections with cutaneous involvement are common in immunocompromised patients with myeloid disease. Given the varying presentations, dermatologic findings associated with myeloid malignancies can pose diagnostic challenges for hematologists and dermatologists. In this clinical review intended for the practicing hematologist/oncologist, we discuss the presentation, diagnosis, treatment, and prognostic value of the most common cutaneous manifestations associated with myeloid malignancies using illustrative macro- and microscopic figures and with a special emphasis on practical considerations. Copyright © 2017 Elsevier Ltd. All rights reserved.

Various Manifestations of Hyperthyroidism in an Ambulatory Clinic: Case Studies

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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

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

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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.

Orbital manifestations in patients with acquired immunodeficiency syndrome.

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Sodhi, Punita Kumari

2014-01-01

The orbital manifestations of acquired immunodeficiency syndrome(AIDS) are uncommon. To provide a review of orbital manifestations of AIDS, the predisposing factors, investigations, treatment and outcome. Meticulous and systematic literature search of Pubmed to identify manuscripts describing orbital manifestations of AIDS was done and the articles were reviewed.The keywords used in the search were “orbit and AIDS”, “HIV positive and orbit”,“orbit manifestations in AIDS”, “orbital disease and AIDS” and “orbital infections and AIDS”. The orbital involvement in AIDS may present with opportunistic infections from organisms like fungi, viruses, bacteria and protozoa or with malignancies like Kaposi’s sarcoma, squamous cell carcinoma, smooth muscle cell tumors and lymphoma.The predisposing factors for orbital involvement in AIDS are low CD4+ cell count and the immunosuppressive states like diabetes, diabetic ketoacidosis, intravenous drug abuse and neutropenia. A patient may present with fever, headache, nausea, vomiting,decreased vision, ocular pain, and, in cases of mass formation, there is periorbital swelling, axial proptosis, globe displacement and swollen optic disc. Radiologically,mass formation, orbital bony destruction, and spread of disease to contiguous structures including the central nervous system may be seen. The medical management includes therapy for infection and HIV-1 protease inhibitors (highly active antiretroviral therapy)to suppress HIV-1 replication. For tumors, radical surgery including debulking followed by postoperative radiotherapy is generally needed. Orbital involvements with AIDS in any form, infective or malignancy, causes significant morbidity and mortality and should be diagnosed and managed as early as possible.

Congenital retrosternal hernias of Morgagni: Manifestation and treatment in children

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Oleksii Slepov

2016-01-01

Full Text Available Background: Due to scarcity of congenital diaphragmatic hearnias of Morgagni (CDHM, non-specific clinical presentation in the pediatric age group, we aimed to investigate the incidence, clinical manifestations, anatomical characteristics, and develop diagnostic algorithm and treatment of CDHM in children. Materials and Methods: The patients′ records of children with CDHM treated in our hospital during past 20 years were retrospectively reviewed for the age at diagnosis, gender, clinical findings, anatomical features, operative details and outcome. Results: Since 1995 to 2014 we observed 6 (3 boys, 3 girls patients with CDHM, that comprise 3.2% of all congenital diaphragmatic hernia cases (n = 185. Age at diagnosis varied from 3 mo. to 10y.o. Failure to thrive was main symptom in 4 patients, followed by recurrent respiratory infections (n = 3, dyspnea (n = 3, and gastrointestinal manifestations: constipation (n = 2, abdominal pain (n = 1. Work-up consisted of plain X-ray for all (n = 6, upper GI (n = 3, barium enema (n = 2, sonography (n = 6 and CT (n = 2. Abdominal approach used in 5 patients, and thoracotomy in one. Herniated contents were: liver lobes (n = 4, transverse colon (n = 3 and greater omentum (n = 1. 5 had right-sided lesion, 1- left-sided. Defect repaired using local tissues. Post-operative course was uneventful; all patients appeared well during follow-up. Conclusion: CDHM is very uncommon anomaly, very occasionally diagnosed at the early age. Failure to thrive and recurrent respiratory infections are most frequent clinical manifestations. In suspected CDHM we advocate the following work-up: plain chest and abdominal X-ray, contrast study (upper GI series or barium enema, ultrasonographic screen and CT scan. Surgical repair via abdominal approach, using local tissues and hernia sac removal is preferred.

Clinical spectrum of onchodermatitis

International Nuclear Information System (INIS)

Bari, A.U.

2007-01-01

To describe the frequency and to see various dermatological presentations of onchocerciasis in black Africans of Sierra Leone. Local black patients of all age groups, attending dermatology outpatient department of Pak Field Hospital (established as a part of UN peacekeeping mission in Sierra Leone) with clinical diagnosis of onchodermatitis, based on symptomatology and morphological features of the disease, were included. UN troops were excluded. Laboratory investigations including blood complete picture and skin snips were carried out in all patients. Skin biopsy and nodule biopsy was performed in selected cases. Skin manifestations were recorded and categorized into various clinical patterns, i.e. acute, chronic, lichenified, onchocercoma, etc. Data was analyzed by using descriptive statistics in Instat. A total of 3011 patients, belonging to different local tribes, having a variety of skin disorders, were seen during the study period. One hundred and eighty-seven (6.2%) patients were found to have onchodermatitis. Patients were of all ages and both sexes, their ages ranging from 1 month to 73 years. Gender ratio was almost equal. A whole clinical spectrum of onchodermatitis was observed, chronic papular onchodermatitis being the most common pattern. Onchodermatitis with a large spectrum of clinical manifestations was seen in black Africans of the eastern part of Sierra Leone. (author)

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.

Dermatological manifestations in patients with HIV/AIDS

OpenAIRE

Sahily De la Paz Peña; Leonides Rojas Barly; Reynaldo Hugo Remond Vázquez; Maira Lozano Lavernia

2015-01-01

In view of the frequency of the dermatological manifestations in patients who suffer from AIDS/HIV, and with the objective of describing their behaviour, a descriptive,observational, and cross sectional investigation was carried out in the cases of the AIDS provincial consultation at Ernesto Guevara General Teaching Hospital of Las Tunas from January, 2007 to June, 2008. The information was obtained from the survey, the dermatological examination, and the clinical charts. The sample was made ...

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

Science.gov (United States)

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

2018-01-01

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

Cutaneous manifestations in patients with chronic renal failure on hemodialysis

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Udayakumar P

2006-01-01

Full Text Available Background: Chronic renal failure (CRF presents with an array of cutaneous manifestations. Newer changes are being described since the advent of hemodialysis, which prolongs the life expectancy, giving time for these changes to manifest. Aim: The aim of this study was to evaluate the prevalence of dermatologic problems among patients with chronic renal failure (CRF undergoing hemodialysis. Methods: One hundred patients with CRF on hemodialysis were examined for cutaneous changes. Results: Eighty-two per cent patients complained of some skin problem. However, on examination, all patients had at least one skin lesion attributable to CRF. The most prevalent finding was xerosis (79%, followed by pallor (60%, pruritus (53% and cutaneous pigmentation (43%. Other cutaneous manifestations included Kyrle′s disease (21%; fungal (30%, bacterial (13% and viral (12% infections; uremic frost (3%; purpura (9%; gynecomastia (1%; and dermatitis (2%. The nail changes included half and half nail (21%, koilonychia (18%, onychomycosis (19%, subungual hyperkeratosis (12%, onycholysis (10%, splinter hemorrhages (5%, Mees′ lines (7%, Muehrcke′s lines (5% and Beau′s lines (2%. Hair changes included sparse body hair (30%, sparse scalp hair (11% and brittle and lusterless hair (16%. Oral changes included macroglossia with teeth markings (35%, xerostomia (31%, ulcerative stomatitis (29%, angular cheilitis (12% and uremic breath (8%. Some rare manifestations of CRF like uremic frost, gynecomastia and pseudo-Kaposi′s sarcoma were also observed. Conclusions: CRF is associated with a complex array of cutaneous manifestations caused either by the disease or by treatment. The commonest are xerosis and pruritus and the early recognition of cutaneous signs can relieve suffering and decrease morbidity.

MRI manifestation for the diagnosis of sporadic Creutzfeldt-Jakob disease

International Nuclear Information System (INIS)

Xue Yonggang; Qi Ji; Xia Shuang

2007-01-01

Objective: To study the MRI features of sporadic Creutzfeldt-Jakob disease (sCJD). Methods: Three patients with clinically diagnosed sCJD underwent MR study, including SE T 1 WI, FSE T 2 WI, and DWI sequences. The MR imaging features were analyzed. Results: The lesions were not definite either in SE T 1 WI or in FSE T 2 WI, but were prominent in DWI. Abnormal hyperintensive signal appeared in the cerebral cortex, with the frontal, parietal, and occipital lobes being the mostly involved region. The subcortical white matter was normal. The bilateral caudate nuclei and thalami could also be involved. The abnormal signal could be either symmetrical or asymmetrical. There was diffuse atrophy of the brain parenchyma in the late phase of disease, especially in the cortex. Conclusion: With the application of MR study, especially the DWI, combined with its characteristic clinical manifestation, the diagnosis of sCJD can be made definitely. (authors)

Subtle abnormalities in contractile function are an early manifestation of sarcomere mutations in dilated cardiomyopathy

DEFF Research Database (Denmark)

Lakdawala, Neal K; Thune, Jens J; Colan, Steven D

2012-01-01

Sarcomere mutations cause both dilated cardiomyopathy (DCM) and hypertrophic cardiomyopathy (HCM); however, the steps leading from mutation to disease are not well described. By studying mutation carriers before a clinical diagnosis develops, we characterize the early manifestations of sarcomere...... mutations in DCM and investigate how these manifestations differ from sarcomere mutations associated with HCM....

A Study on the Clinical Diagnosis of Hyperthyroidism

International Nuclear Information System (INIS)

Ku, In Soo; Koh, Chang Soon; Lee, Mun Ho

1973-01-01

To attain a simple and reliable method of evaluating the thyroid function the reliability of the clinical manifestation and the conventional thyroid function tests in diagnosing the hyperthyroidism was studied. The subjects included 184 patients with hyperthyroidism and 66 cases with euthyroidism, who were treated at the Thyroid Clinic, Seoul National University Hospital, from July 1971 through August 1972. The observed results were as follows: l. In the cases of hyperthyroidism, 19% of the patients were male and 81% female; in the cases of euthyroidism, 7. 6% of the patients were male and 92. 4% female. The majority of the patients were in 2nd to 4th decades of their lives. 2. There were objective signs clearly manifested in hyperthyroidism which were rare or absent in the euthyroid state. These clinical signs included wide pulse pressure, tachycardia, systolic murmur, exophthalmos, tremor, and warm skin. In the hyperthyroid state 91. 3% of the cases manifested two or more of the above signs, whereas in the euthyroid state no patients manifested any two of the above signs. 3. The most frequent complaints of the patients with thyroid disease were palpitation, weight low, increased appetite, heat intolerance, perspiration, hunger feeling; nervousness, exertional dyapnea, etc. There was no clear difference in the incidence of the symptoms between hyperthyroidism and euthyroidism. 4. In the diagnosis of hyperthyroidism, the reliability of thyroid function tests was as follows: T 7 was 92. 4% reliable, 125 IT 3 resin uptake rate 91. 6% reliable, 131 I thyroid uptake rate in 24 hrs. 89. 4% reliable, serum T 4 level 85. 9% reliable and BMR 75. 5% reliable. Therefore the careful observation of the clinical manifestation of the disease is a simple and reliable way of making a correct diagnosis of either hyperthyroidism or euthymidism. 5. In hyperthyroidism there shows no correlationship between the results of the thyroid function test and clinical signs but a high BMR was

A Study on the Clinical Diagnosis of Hyperthyroidism

Energy Technology Data Exchange (ETDEWEB)

Ku, In Soo; Koh, Chang Soon; Lee, Mun Ho [Seoul National University College of Medicine, Seoul (Korea, Republic of)

1973-03-15

To attain a simple and reliable method of evaluating the thyroid function the reliability of the clinical manifestation and the conventional thyroid function tests in diagnosing the hyperthyroidism was studied. The subjects included 184 patients with hyperthyroidism and 66 cases with euthyroidism, who were treated at the Thyroid Clinic, Seoul National University Hospital, from July 1971 through August 1972. The observed results were as follows: l. In the cases of hyperthyroidism, 19% of the patients were male and 81% female; in the cases of euthyroidism, 7. 6% of the patients were male and 92. 4% female. The majority of the patients were in 2nd to 4th decades of their lives. 2. There were objective signs clearly manifested in hyperthyroidism which were rare or absent in the euthyroid state. These clinical signs included wide pulse pressure, tachycardia, systolic murmur, exophthalmos, tremor, and warm skin. In the hyperthyroid state 91. 3% of the cases manifested two or more of the above signs, whereas in the euthyroid state no patients manifested any two of the above signs. 3. The most frequent complaints of the patients with thyroid disease were palpitation, weight low, increased appetite, heat intolerance, perspiration, hunger feeling; nervousness, exertional dyapnea, etc. There was no clear difference in the incidence of the symptoms between hyperthyroidism and euthyroidism. 4. In the diagnosis of hyperthyroidism, the reliability of thyroid function tests was as follows: T{sub 7} was 92. 4% reliable, {sup 125}IT{sub 3} resin uptake rate 91. 6% reliable, {sup 131}I thyroid uptake rate in 24 hrs. 89. 4% reliable, serum T{sub 4} level 85. 9% reliable and BMR 75. 5% reliable. Therefore the careful observation of the clinical manifestation of the disease is a simple and reliable way of making a correct diagnosis of either hyperthyroidism or euthymidism. 5. In hyperthyroidism there shows no correlationship between the results of the thyroid function test and clinical

Ventricular Septal Defect: Peculiarities of Early Neonatal and Postnatal Diagnosis, Clinical Manifestations, Treatment and Prognosis at the Contemporary Stage

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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.

Systemic lupus erythematosus in an African Caribbean population: incidence, clinical manifestations, and survival in the Barbados National Lupus Registry.

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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.

Oral manifestations of HIV/AIDS in Asia: Systematic review and future research guidelines.

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Sharma, Gaurav; Oberoi, Sukhvinder-Singh; Vohra, Puneeta; Nagpal, Archna

2015-07-01

The authors have conducted a systematic review of oral manifestations of HIV from studies conducted in Asia to establish the characteristics and prevalence of individual oral manifestations in Asia, and to assess the direction of future research studies on oral manifestations of HIV in Asia. The electronic retrieval systems and databases searched for relevant articles were PubMed [MEDLINE], EBSCO, and EMBASE. The search was for limited articles published in English or with an English abstract and articles published during the period January 1995 to August 2014. The authors reached a final overall sample of 39 studies that were conducted in Asia. The median population size among all studies was 312.7 patients. Oral candidiasis [OC] was the most common oral manifestation [37.7%] in studies conducted in Asia. The overall prevalence of oral hairy leukoplakia and melanotic hyperpigmentation was computed to be 10.1% and 22.8% respectively. Thailand and India are primarily countries with maximum research on oral manifestations. The research on oral manifestations of HIV in Asia has to upgrade to more interventional and therapeutic studies rather than the contemporary cross- sectional epidemiological descriptive studies. The authors have given suggestions and future directions for the implementation of clinical research of oral manifestations in HIV patients. Key words:Oral manifestations, HIV/AIDS, Asia, Systematic review.

PSORIATIC ARTHRITIS: CLASSIFICATION, CLINICAL PRESENTATION, DIAGNOSIS, TREATMENT

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T. V. Korotaev

2018-01-01

Full Text Available soriatic arthritis (PsA is a chronic inflammatory disease of the joints, spine and entheses from a group of spondyloarthritis (SpA, which is usually observed in patients with psoriasis (Ps. The diagnosis of PsA is based on the CASPAR criteria for psoriatic arthritis. The disease results from interactions between genetic, immunological and environmental factors. The main clinical manifestations of PsA include peripheral arthritis, enthesitis, dactylitis, and spondylitis. PsA must be differentiated from rheumatoid arthritis, gout, reactive arthritis, osteoarthritis, and ankylosing spondylitis. Due to the fact that PsA is a clinically heterogeneous disease, its activity is assessed using complex indices, by taking into account that the patient has arthritis, enthesitis, dactylitis, and spondylitis. The goal of treatment for PsA is to achieve remission or minimal activity of the main clinical manifestations of the disease, to slow down or prevent radiographic progression, to increase life expectancy and quality of life in the patients, and to reduce the risk of comorbidities, which is achieved through a wide range of drugs of different classes. Therapy should be chosen based on the clinical manifestations of PsA and comorbidities in the patients. 

Psychopathological manifestations of multiple meningiomas in the right hemisphere

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A. A. Lukshina

2015-01-01

Full Text Available The paper gives the data available in the literature on meningiomas and their psychopathological manifestations that occupy a central position in the clinical picture in almost every 5 patients with these tumors. The authors provide a clinical and psychopathological analysis of a female patient with multiple meningiomas in the right hemisphere: a giant meningioma in the posterior third of the falx, a large meningioma in the temporal region, and three small meningiomas in the frontal and parietal regions. The disease started as headache; however, psychopathological symptoms remained missed by physicians, such as emotional lability; personality changes leading to family dissension; lower criticism; spatial orientation problems; hypomnesia; left-sided visual inattention,occurred in parallel. Surgical treatment was performed by stages: the two largest meningiomas were removed at an 11-day interval, which presented a means of observing psychopathological changes after each operation. It is concluded that greater attention should be given to the psychopathological manifestations of the disease, which is important to make a primary diagnosis and to define further treatment policy.

A CLINICAL STUDY OF OCULAR MANIFESTATIONS IN PATIENTS OF HEAD INJURY

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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.

Neurological manifestations of dengue viral infection

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Carod-Artal FJ

2014-10-01

Full Text Available Francisco Javier Carod-Artal1,21Neurology Department, Raigmore hospital, Inverness, UK; 2Universitat Internacional de Catalunya (UIC, Barcelona, Spain Abstract: Dengue is the most common mosquito-borne viral infection worldwide. There is increased evidence for dengue virus neurotropism, and neurological manifestations could make part of the clinical picture of dengue virus infection in at least 0.5%–7.4% of symptomatic cases. Neurological complications have been classified into dengue virus encephalopathy, dengue virus encephalitis, immune-mediated syndromes (acute disseminated encephalomyelitis, myelitis, Guillain–Barré syndrome, neuritis brachialis, acute cerebellitis, and others, neuromuscular complications (hypokalemic paralysis, transient benign muscle dysfunction and myositis, and dengue-associated stroke. Common neuro-ophthalmic complications are maculopathy and retinal vasculopathy. Pathogenic mechanisms include systemic complications and metabolic disturbances resulting in encephalopathy, direct effect of the virus provoking encephalitis, and postinfectious immune mechanisms causing immune-mediated syndromes. Dengue viruses should be considered as a cause of neurological disorders in endemic regions. Standardized case definitions for specific neurological complications are still needed. Keywords: encephalitis, encephalopathy, dengue fever, neurological complications

Eosinophilic esophagitis: clinical manifestations, diagnosis, and treatment Esofagitis eosinofílica: clínica, diagnóstico y tratamiento

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A. J. Lucendo Villarín

2009-01-01

Full Text Available Eosinophilic esophagitis (EE is a chronic inflammatory, immunoallergic disease of the esophagus that represents the most common eosinophilic gut disease. Understanding and diagnosis regarding this condition have greatly increased in recent years, particularly in Europe and North America, in parallel with other allergic disorders. It consists of dense esophageal infiltration with eosinophils in the absence of gastro-esophageal reflux (GER. It involves individuals at all ages, and is particularly common in males during childhood and up to the 5th decade of life. It manifests with chronic, intermittent esophageal symptoms that predominantly include dysphagia, food impaction episodes, and GER-attributable complaints that do not respond to antisecretory therapy. Endoscopically, EE is a polymorphous disease that presents with various changes in esophageal caliber, and subtle changes in mucosal appearance, which lead to biopsy collection as a key procedure for diagnosis. Management must be multidisciplinary, including gastroenterologists, pathologists, allergologists, and also nutrition specialists in pediatric cases. Regarding therapy, dietary food restrictions are especially useful in the management of pediatric EE, but effectiveness is lower in the adult, maybe because of a greater involvement of air allergens. Drug use is standard, particularly involving topical steroids, which may revert manifestations and histological lesions, even though recurrence following discontinuation is common.

Neuropsychiatric manifestation of celiac disease: A case-control study in North India

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Mahendra Nimel

2016-01-01

Full Text Available Background: Celiac disease (CD is an immune-mediated disease dependent on gluten. Prevalence of CD is about 1% and beside gastrointestinal complaints, neuropsychiatric symptoms may represent an atypical feature of CD. Some studies suggest that a gluten-free diet is effective in treating them. Settings and Design: This case-control study of 49 cases was done during the period of January to March 2013. Aim: To know the spectrum of psychiatric manifestations and cognitive functions in children with CD. Materials and Methods: We took 49 diagnosed cases of CD (based on the demonstration of IgA tissue transglutaminase antibodies and duodenal biopsy and compared with demographically matched control group (n = 50 on Seguin Form Board Test for cognitive functions and Behavioral Summarized Evaluation-Revised scale for assessment of psychiatric and behavior disturbances. All possible psychiatric diagnosis was made on the basis of International Statistical Classification of Disease and Related Health Problems-Tenth Revision criteria. Statistical Analysis: Statistical analyses were done by using Chi-square test and two-tailed P-values. Results: Neuropsychiatric manifestations were seen in 29% of cases as against 4% of controls which was statistically significant (P=0.001. Only four cases and 1 control fount to be mild mental retardation (P = 0.16. Autism, dyslexia, developmental delay, disruptive behavior disorder, and tic disorder present in cases were not found. Conclusion: Clinical manifestations of CD vary from typical malabsorption syndrome to neuropsychiatric manifestations. Those psychiatric patients who are not responding to standard pharmacological modalities, a diagnosis of CD should be taken into consideration. Only behavioral problem can be the sole clinical manifestation of CD.

Portfolio of prospective clinical trials including brachytherapy: an analysis of the ClinicalTrials.gov database.

Science.gov (United States)

Cihoric, Nikola; Tsikkinis, Alexandros; Miguelez, Cristina Gutierrez; Strnad, Vratislav; Soldatovic, Ivan; Ghadjar, Pirus; Jeremic, Branislav; Dal Pra, Alan; Aebersold, Daniel M; Lössl, Kristina

2016-03-22

To evaluate the current status of prospective interventional clinical trials that includes brachytherapy (BT) procedures. The records of 175,538 (100 %) clinical trials registered at ClinicalTrials.gov were downloaded on September 2014 and a database was established. Trials using BT as an intervention were identified for further analyses. The selected trials were manually categorized according to indication(s), BT source, applied dose rate, primary sponsor type, location, protocol initiator and funding source. We analyzed trials across 8 available trial protocol elements registered within the database. In total 245 clinical trials were identified, 147 with BT as primary investigated treatment modality and 98 that included BT as an optional treatment component or as part of the standard treatment. Academic centers were the most frequent protocol initiators in trials where BT was the primary investigational treatment modality (p < 0.01). High dose rate (HDR) BT was the most frequently investigated type of BT dose rate (46.3 %) followed by low dose rate (LDR) (42.0 %). Prostate was the most frequently investigated tumor entity in trials with BT as the primary treatment modality (40.1 %) followed by breast cancer (17.0 %). BT was rarely the primary investigated treatment modality for cervical cancer (6.8 %). Most clinical trials using BT are predominantly in early phases, investigator-initiated and with low accrual numbers. Current investigational activities that include BT mainly focus on prostate and breast cancers. Important questions concerning the optimal usage of BT will not be answered in the near future.

Oral Crohn′s disease without intestinal manifestations

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Gingisetty Harikishan

2012-01-01

Full Text Available Crohn′s disease is a granulomatous inflammatory bowel disease and was described in 1932 as a chronic granulomatous disorder of the terminal ileum and is now considered a distinct member of the inflammatory bowel disease family. It may affect any part of the gastrointestinal tract. Oral Crohn′s disease has been reported frequently in the last three decades with or without intestinal manifestations. In the latter case, it is considered as one of the orofacial granulomatosis. There has been much doubt whether intestinal manifestations of Crohn′s disease will eventually develop in the orofacial granulomatosis. We present a female patient aged 22 years with prominent clinical findings such as persistent swelling of lower and upper lip with fissuring and angular cheilitis, granulomatous gingival enlargement, and cobblestone or corrugated appearance of labial mucosa, which are suggestive of Crohn′s disease, but with no evidence of other gastrointestinal involvement. The patient underwent surgical treatment with external gingivectomy procedure. A 6-month follow-up showed minimal recurrence.

Mandibular and Dental Manifestations of Gaucher Disease

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

2012-01-01

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

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

Skin manifestations in a case of trisomy 16 mosaicism

DEFF Research Database (Denmark)

Ousager, Lilian Bomme; Brandrup, Flemming; Andersen, Charlotte Brasch

2006-01-01

We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis....

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.

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

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Marie-Andrée Coulombe

2017-06-01

Full Text Available Fibromyalgia (FM syndrome is characterized by chronic widespread pain, muscle tenderness and emotional distress. Previous studies found reduced endogenous pain modulation in FM. This deficiency of pain modulation may be related to the attributes of chronic pain and other clinical symptoms experienced in patients with FM. Thus, we tested whether there is a link between the clinical symptoms of FM and functional connectivity (FC of the periaqueductal gray (PAG, a key node of pain modulation. We acquired resting state 3T functional MRI (rsfMRI data from 23 female patients with FM and 16 age- and sex- matched healthy controls (HC and assessed FM symptoms with the Brief Pain Inventory (BPI, Fibromyalgia Impact Questionnaire (FIQ, Hospital Anxiety and Depression Scale (HADS and Pain Catastrophizing Scale (PCS. We found that patients with FM exhibit statistically significant disruptions in PAG FC, particularly with brain regions implicated in negative affect, self-awareness and saliency. Specifically, we found that, compared to HCs, the FM patients had stronger PAG FC with the lingual gyrus and hippocampus but weaker PAG FC with regions associated with motor/executive functions, the salience (SN and default mode networks (DMN. The attenuated PAG FC was also negatively correlated with FIQ scores, and positively correlated with the magnification subscale of the PCS. These alterations were correlated with emotional and behavioral symptoms of FM. Our study implicates the PAG as a site of dysfunction contributing to the clinical manifestations and pain in FM.

Neurobrucellosis: clinical, diagnostic, therapeutic features and outcome. Unusual clinical presentations in an endemic region

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Nurgul Ceran

Full Text Available Brucellosis is a zoonotic infection and has endemic characteristics. Neurobrucellosis is an uncommon complication of this infection. The aim of this study was to present unusual clinical manifestations and to discuss the management and outcome of a series of 18 neurobrucellosis cases. Initial clinical manifestations consist of pseudotumor cerebri in one case, white matter lesions and demyelinating syndrome in three cases, intracranial granuloma in one case, transverse myelitis in two cases, sagittal sinus thrombosis in one case, spinal arachnoiditis in one case, intracranial vasculitis in one case, in addition to meningitis in all cases. Eleven patients were male and seven were female. The most prevalent symptoms were headache (83% and fever (44%. All patients were treated with rifampicin, doxycycline plus trimethoprim-sulfamethoxazole or ceftriaxone. Duration of treatment (varied 3-12 months was determined on basis of the CSF response. In four patients presented with left mild sequelae including aphasia, hearing loss, hemiparesis. In conclusion, although mortality is rare in neurobrucellosis, its sequelae are significant. In neurobrucellosis various clinical and neuroradiologic signs and symptoms can be confused with other neurologic diseases. In inhabitants or visitors of endemic areas, neurobrucellosis should be kept in mind in cases that have unusual neurological manifestations.

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.

Fragile X-Associated Diminished Ovarian Reserve and Primary Ovarian Insufficiency from Molecular Mechanisms to Clinical Manifestations.

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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.

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

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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.

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

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

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Hyae Min Lee

2015-09-01

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

Neurologic Manifestations of Vitamin B Deficiency after Bariatric Surgery.

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

2017-08-01

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

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

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

2018-02-01

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

Dengue encephalitis–A rare manifestation of dengue fever

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Madi, Deepak; Achappa, Basavaprabhu; Ramapuram, John T; Chowta, Nityananda; Laxman, Mridula; Mahalingam, Soundarya

2014-01-01

The clinical spectrum of dengue fever ranges from asymptomatic infection to dengue shock syndrome. Dengue is classically considered a non-neurotropic virus. Neurological complications are not commonly seen in dengue. The neurological manifestations seen in dengue are encephalitis, meningitis, encephalopathy, stroke and Guillain-Barré syndrome. Dengue encephalitis is a rare disease. We report an interesting case of dengue encephalitis from Southern India. A 49-year-old gentleman presented with...

Portfolio of prospective clinical trials including brachytherapy: an analysis of the ClinicalTrials.gov database

International Nuclear Information System (INIS)

Cihoric, Nikola; Tsikkinis, Alexandros; Miguelez, Cristina Gutierrez; Strnad, Vratislav; Soldatovic, Ivan; Ghadjar, Pirus; Jeremic, Branislav; Dal Pra, Alan; Aebersold, Daniel M.; Lössl, Kristina

2016-01-01

To evaluate the current status of prospective interventional clinical trials that includes brachytherapy (BT) procedures. The records of 175,538 (100 %) clinical trials registered at ClinicalTrials.gov were downloaded on September 2014 and a database was established. Trials using BT as an intervention were identified for further analyses. The selected trials were manually categorized according to indication(s), BT source, applied dose rate, primary sponsor type, location, protocol initiator and funding source. We analyzed trials across 8 available trial protocol elements registered within the database. In total 245 clinical trials were identified, 147 with BT as primary investigated treatment modality and 98 that included BT as an optional treatment component or as part of the standard treatment. Academic centers were the most frequent protocol initiators in trials where BT was the primary investigational treatment modality (p < 0.01). High dose rate (HDR) BT was the most frequently investigated type of BT dose rate (46.3 %) followed by low dose rate (LDR) (42.0 %). Prostate was the most frequently investigated tumor entity in trials with BT as the primary treatment modality (40.1 %) followed by breast cancer (17.0 %). BT was rarely the primary investigated treatment modality for cervical cancer (6.8 %). Most clinical trials using BT are predominantly in early phases, investigator-initiated and with low accrual numbers. Current investigational activities that include BT mainly focus on prostate and breast cancers. Important questions concerning the optimal usage of BT will not be answered in the near future. The online version of this article (doi:10.1186/s13014-016-0624-8) contains supplementary material, which is available to authorized users

Dimorphic anemia and mental depression as a result of systemic manifestations of generalized aggressive periodontitis: A pioneer case report

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Ajay Mahajan

2017-01-01

Full Text Available Generalized aggressive periodontitis (GAP is a rare form of periodontitis resulting in early loss of teeth. Most of the clinical evidence available in literature focuses on the diagnosis and management aspects of GAP. Systemic manifestations of GAP have been reported infrequently. To the best of our knowledge, the present case report is the first-ever evidence providing a possible mechanism and link between GAP, dimorphic anemia, and mental depression suggesting that dimorphic anemia and mental depression are probable systemic manifestations of GAP. A young female reported with her father to the hospital with a complaint of pain in her oral cavity and lack of desire to eat. On thorough examination, GAP with dimorphic anemia and mental depression were diagnosed. Periodontal treatment along with nutritional supplements was prescribed. An improvement was noticed in the patient's condition after a follow-up period of 6 months. Systemic manifestations of GAP should include the diagnoses of dimorphic anemia and mental depression and should be treated accordingly.

Acute gouty arthritis and rapidly progressive renal failure as manifestation of multiple myeloma: clinical case description

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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.

Using dreams to assess clinical change during treatment.

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Glucksman, Myron L; Kramer, Milton

2004-01-01

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

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

Assessment and manifestation of central sensitisation across different chronic pain conditions.

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Arendt-Nielsen, L; Morlion, B; Perrot, S; Dahan, A; Dickenson, A; Kress, H G; Wells, C; Bouhassira, D; Mohr Drewes, A

2018-02-01

Different neuroplastic processes can occur along the nociceptive pathways and may be important in the transition from acute to chronic pain and for diagnosis and development of optimal management strategies. The neuroplastic processes may result in gain (sensitisation) or loss (desensitisation) of function in relation to the incoming nociceptive signals. Such processes play important roles in chronic pain, and although the clinical manifestations differ across condition processes, they share some common mechanistic features. The fundamental understanding and quantitative assessment of particularly some of the central sensitisation mechanisms can be translated from preclinical studies into the clinic. The clinical perspectives are implementation of such novel information into diagnostics, mechanistic phenotyping, prevention, personalised treatment, and drug development. The aims of this paper are to introduce and discuss (1) some common fundamental central pain mechanisms, (2) how they may translate into the clinical signs and symptoms across different chronic pain conditions, (3) how to evaluate gain and loss of function using quantitative pain assessment tools, and (4) the implications for optimising prevention and management of pain. The chronic pain conditions selected for the paper are neuropathic pain in general, musculoskeletal pain (chronic low back pain and osteoarthritic pain in particular), and visceral pain (irritable bowel syndrome in particular). The translational mechanisms addressed are local and widespread sensitisation, central summation, and descending pain modulation. Central sensitisation is an important manifestation involved in many different chronic pain conditions. Central sensitisation can be different to assess and evaluate as the manifestations vary from pain condition to pain condition. Understanding central sensitisation may promote better profiling and diagnosis of pain patients and development of new regimes for mechanism based

[Rapidly progressive compromise of cranial pairs as neurosyphilis manifestation].

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Baccaro, Fernando; Moldes, Sofía; Novelli Poisson, Paola; Arduin, Julieta; Valerga, Mario

2012-01-01

Syphilis remains a common disease throughout the world, being neurosyphilis a relatively common manifestation. A case of a 34 years old male with HIV and neurosyphilis is presented, characterized by a clinical course evidenced by progressive palsy of cranial nerves. This case is unusual and a rare presentation of progressive cranial involvement with swallowing deficit, have found no similar data in the literature.

Extraintestinal manifestations of inflammatory bowel disease: epidemiology, diagnosis, and management

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Larsen, Signe; Bendtzen, Klaus; Nielsen, Ole Haagen

2010-01-01

Abstract Extraintestinal manifestations occur rather frequently in inflammatory bowel disease (IBD), e.g. ulcerative colitis (UC) and Crohn's disease (CD). The present paper provides an overview of the epidemiology, clinical characteristics, diagnostic process, and management of rheumatic......, metabolic, dermatologic (mucocutaneous), ophthalmologic, hepatobiliary, hematologic, thromboembolic, urinary tract, pulmonary, and pancreatic extraintestinal manifestations related to IBD. Articles were identified through search of the PubMed and Embase databases, the Cochrane Library, and the web sites......', 'thromboembolism', and 'treatment'. The search was performed on English-language reviews, practical guidelines, letters, and editorials. Articles were selected based on their relevance, and additional papers were retrieved from their reference lists. Since some of the diseases discussed are uncommon, valid...

Epidemiology and clinical manifestations of enteroaggregative Escherichia coli

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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...

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

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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.

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

Surgical manifestations of filariasis

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Subrahmanyam M

1978-01-01

Full Text Available Surgical manifestations of filariasis as seen in 150 cases over a period of three years in the department of Surgery, Mahatma Gandhi Institute of Medical Sciences, Sevagram, Wardha are reviewed. The genital manifestations are more common than the elephantiasis in this endemic zone.

Chronic dry eye in PRK and LASIK: manifestations, incidence and predictive factors

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Bower, Kraig S.; Sia, Rose K.; Ryan, Denise S.; Mines, Michael J.; Dartt, Darlene A.

2017-01-01

Purpose To evaluate dry eye manifestations following photorefractive keratectomy (PRK) and laser in situ keratomileusis (LASIK) and determine the incidence and predictive factors of chronic dry eye using a set of dry eye criteria. Setting Walter Reed Army Medical Center, Washington, DC, USA Methods This is a prospective non-randomized clinical study of 143 active duty U.S. Army personnel aged 29.9±5.2 years with myopia or myopic astigmatism (manifest spherical equivalent −3.83±1.96 diopters) undergoing either PRK or LASIK. Dry eye evaluation was performed pre- and postoperatively. Main outcome measures included dry eye manifestations, incidence, and predictive factors of chronic dry eye. Results Schirmer scores, corneal sensitivity, ocular surface staining, surface regularity index (SRI), and responses to dry eye questionnaire significantly changed over time after PRK. After LASIK, significant changes were observed in tear breakup time, corneal sensitivity, ocular surface staining, and responses to questionnaire. At twelve months postoperatively, 5.0% of PRK and 0.8% of LASIK participants developed chronic dry eye. Regression analysis showed preoperatively lower Schirmer score will significantly influence development of chronic dry eye after PRK whereas preoperatively lower Schirmer score or higher ocular surface staining score will significantly influence the occurrence of chronic dry eye after LASIK. Conclusions Chronic dry eye is uncommon after PRK and LASIK. Ocular surface and tear film characteristics during preoperative examination may help predict chronic dry eye development in PRK and LASIK. PMID:26796443

Tics as an initial manifestation of juvenile Huntington's disease: case report and literature review.

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Cui, Shi-Shuang; Ren, Ru-Jing; Wang, Ying; Wang, Gang; Chen, Sheng-Di

2017-08-08

Huntington's disease (HD) is an autosomal dominant disorder, typically characterized by chorea due to a trinucleotide repeat expansion in the HTT gene, although the clinical manifestations of patients with juvenile HD (JHD) are atypical. A 17-year-old boy with initial presentation of tics attended our clinic and his DNA analysis demonstrated mutation in the HTT gene (49 CAG repeats). After treatment, his symptoms improved. Furthermore, we performed literature review through searching the databases and summarized clinical features in 33 JHD patients. The most prevalent symptoms are ataxia, and two cases reported that tics as initial and prominent manifestation in JHD. Among them, 88% patients carried CAG repeats beyond 60 and most of them have family history. This case here illustrates the variable range of clinical symptoms of JHD and the necessity of testing for the HD mutation in young patients with tics with symptoms unable to be explained by Tourette's syndrome (TS).

The Relation between Diverse Phenotypes of PCOS with Clinical Manifestations, Anthropometric Indices and Metabolic Characteristics.

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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.

Otolaryngic manifestations of Cushing disease.

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Kuan, Edward C; Peng, Kevin A; Suh, Jeffrey D; Bergsneider, Marvin; Wang, Marilene B

2017-08-01

Cushing disease is a relatively rare cause of Cushing syndrome secondary to a hyperfunctioning pituitary adenoma. In addition to signs and symptoms of hypercortisolism, Cushing disease may present with diverse otolaryngic manifestations, which may guide diagnosis and management. We performed a retrospective chart review of patients who were found to have Cushing disease and who underwent transnasal transsphenoidal surgery for pituitary adenomas between January 1, 2007, and July 1, 2014, at a tertiary academic medical center. There were 37 consecutive patients in this series with Cushing disease caused by a pituitary adenoma. Fifteen (41%) patients complained of visual changes. Five (14%) patients suffered from obstructive sleep apnea. Four (11%) patients had thyroid disease. Other symptoms included hearing loss, vertigo, tinnitus, epistaxis, dysphagia, and salivary gland swelling. Although Cushing disease traditionally presents with classic "Cushingoid" systemic features, it also may present with various otolaryngic manifestations. A thorough workup by otolaryngologists is critical in the comprehensive management of these patients.

Recurrent episodic acute kidney injury as presenting manifestation of mitochondrial myopathy

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T P Matthai

2014-01-01

Full Text Available Mitochondrial cytopathies (MC are a rare heterogenous group of disorders with frequent multisystem involvement including uncommon renal manifestations. Acute kidney injury (AKI as the primary manifestation of MC is extremely rare. Here, we report a case of recurrent episodic AKI in an adult male who was subsequently diagnosed to have mitochondrial disease.

Peripheral Nervous System Manifestations in Systemic Autoimmune Diseases

OpenAIRE

COJOCARU, Inimioara Mihaela; COJOCARU, Manole; SILOSI, Isabela; VRABIE, Camelia Doina

2014-01-01

The peripheral nervous system refers to parts of the nervous system outside the brain and spinal cord. Systemic autoimmune diseases can affect both the central and peripheral nervous systems in a myriad of ways and through a heterogeneous number of mechanisms leading to many different clinical manifestations. As a result, neurological complications of these disorders can result in significant morbidity and mortality. The most common complication of peripheral nervous system (PNS) involvement ...

Oropharyngeal Dysphagia in Dermatomyositis: Associations with Clinical and Laboratory Features Including Autoantibodies

OpenAIRE

Mugii, Naoki; Hasegawa, Minoru; Matsushita, Takashi; Hamaguchi, Yasuhito; Oohata, Sacihe; Okita, Hirokazu; Yahata, Tetsutarou; Someya, Fujiko; Inoue, Katsumi; Murono, Shigeyuki; Fujimoto, Manabu; Takehara, Kazuhiko

2016-01-01

Objective Dysphagia develops with low frequency in patients with dermatomyositis. Our objective was to determine the clinical and laboratory features that can estimate the development of dysphagia in dermatomyositis. Methods This study included 92 Japanese patients with adult-onset dermatomyositis. The associations between dysphagia and clinical and laboratory features including disease-specific autoantibodies determined by immunoprecipitation assays were analyzed. Results Videofluoroscopy sw...

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

Skin manifestations and immunological parameters in childhood food allergy.

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Oehling, A; Fernández, M; Córdoba, H; Sanz, M L

1997-01-01

According to Hansen's contact rule, the digestive system should be considered as the main shock organ, yet in food allergy, this is not the case. Very often specific food triggers clinical manifestations not involving the digestive system; that is, reactions are manifested either in the respiratory system, as asthma or rhinitis, or in the skin. In these cases the BALT (broncho-alveolar lymphoid tissue) and GALT (gastrointestinal lymphoid tissue) units play a basic role in the sensitizations. The purpose of this study was to determine the most frequent skin manifestations of food allergy among children, and the most frequently involved foods. We also thought it interesting to evaluate the diagnostic reliability of the different standard immunological parameters utilized by the study team in food allergy. All patients underwent intracutaneous tests with 12 groups of the most frequent food allergens, as well as serum IgE, antigen-specific IgE against foods, and antigen-specific histamine release tests. Antigen-specific IgG4 determination was performed in some cases. The results obtained confirmed previous studies, the most common manifestations being: angioedema (48%), followed by urticaria (31%) and atopic dermatitis (21%). Regarding the frequency of sensitization to different food allergens, in mono- or polisensitization, fish and egg stand out in our environment. Certain food allergens are more frequently responsible for specific skin manifestations. Thus, for fish sensitization, the most frequent skin manifestation is atopic dermatitis (50%); for egg sensitization, angioedema is the most frequent skin manifestation (50%); and for milk, urticaria (50%). Finally, and in agreement with previous works regarding the diagnostic reliability of in vitro techniques, we found that the histamine release test offered the highest percentage of diagnostic reliability. Only for sensitization to milk proteins did antigen-specific IgE demonstrate higher reliability. Once again, we

Oral Manifestations in Pediatric Patients with Coeliac Disease – A Review Article

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Macho, Viviana Marisa Pereira; Coelho, Ana Sofia; Veloso e Silva, Diana Maria; de Andrade, David José Casimiro

2017-01-01

Background: Coeliac disease is a chronic enteropathy that remains a challenge for the clinician, due to its atypical manifestations and etiopathogenic complexity. Objective: This article intends to describe the oral characteristics of Coeliac Disease in children in order to facilitate their management in the dental office. Methods: A review of the literature was performed electronically in PubMed (PubMed Central, and MEDLINE) for articles published in English from 2000 to April of 2017. The article is also based on the authors' clinical experience with children with coeliac disease. The searched keywords were “coeliac disease “,”oral manifestations “, “dental enamel defects”, “recurrent aphthous stomatitis” and “oral aphthous ulcers”. Results: There are some oral manifestations which are strictly related to coeliac disease: dental enamel defects, recurrent aphthous stomatitis, delayed tooth eruption, multiple caries, angular cheilitis, atrophic glossitis, dry mouth and burning tongue. Conclusion: The complete knowledge of the oral manifestations of coeliac disease can trigger an effective change in the quality of life of the patients with this disease. PMID:29238414

Anophthalmia: an uncommon manifestation of neurofibromatosis type 1.

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Chen, Sheng; Pu, Jia-Li; Zhang, Jian-Min; Hong, Yuan

2011-11-01

Neurofibromatosis type 1 (NF-1) is an autosomal dominant, multisystem disorder, affecting approximately 1 of 3500 people. Ocular disorders, such as Lisch nodules, optic gliomas, and anterior segment defects, are typical with clinical presentation. Anophthalmia, as a rare eye malformation, has never been reported in patients with NF-1. We report a 27-year-old patient in whom clinical manifestations of café au lait spots, neurofibromas, osseous orbital dysplasia, and anophthalmia were observed. The diagnosis of NF-1 was made, according to clinical course and brain computed tomography and magnetic resonance imaging. Because the patient refused aggressive management approaches, she was managed conservatively and is well on follow-up. We suggest that patients presenting with anophthalmia need serious evaluation and that NF-1 needs to be considered in the differential diagnosis.

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.

Cerebrovascular Manifestations of Neurosarcoidosis: An Underrecognized Aspect of the Imaging Spectrum.

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Bathla, G; Watal, P; Gupta, S; Nagpal, P; Mohan, S; Moritani, T

2017-12-28

Involvement of the central nervous system by sarcoidosis, also referred to as neurosarcoidosis, is seen clinically in about 5% of patients with systemic disease. CNS involvement most frequently affects the leptomeninges and cranial nerves, though the ventricular system, brain parenchyma, and pachymeninges may also be involved. Even though the involvement of the intracranial vascular structures is well-known on postmortem studies, there is scant literature on imaging manifestations secondary to the vessel wall involvement, being confined mostly to isolated case reports and small series. The authors present a review of various cerebrovascular manifestations of neurosarcoidosis, along with a brief synopsis of the existing literature. © 2018 by American Journal of Neuroradiology.

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

PSYCHOLOGICAL ANALYSIS OF PATRIOTISM MANIFESTATIONS IN HIGH SCHOOL STUDENTS

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G A Shurukhina

2015-12-01

Full Text Available In modern society, patriotism is manifested in all spheres of human life and it is understood as a love for the motherland and its people, as a sense of duty and pride for the country, a sense of honor and personal dignity, personal responsibility for occurring events, devotion to the country and its people. Patriotism is a complex concept including patriotic feelings of an individual. In the article, the peculiarities of the manifestation of patriotic feelings in high school students are analyzed on the basis of the system-functional approach. The study involved a group of senior students of secondary comprehensive school, a group of the representatives of the Ministry of Emergency Situations and cadets of a Cadet Corps. Statistically significant differences in sixteen variables characterizing manifestation of patriotic feelings were obtained in the group of cadets, the differences were observed in degrees of manifestation of both harmonic and inharmonic variables. High values were obtained for the variables of the reflective-evaluative component. The personal difficulties have got higher values which indicates a serious and responsible approach of cadets to the manifestation of patriotic feelings. These results were used to formulate correction programs aimed at the harmonization and development of patriotism among representatives of different age groups

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.

Chronic polyarthritis as isolated manifestation of toxocariasis.

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

2016-01-01

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

Oral manifestations of connective tissue disease and novel therapeutic approaches.

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Heath, Kenisha R; Rogers, Roy S; Fazel, Nasim

2015-10-16

Connective tissue diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and Sjögren syndrome (SS) have presented many difficulties both in their diagnosis and treatment. Known causes for this difficulty include uncertainty of disease etiology, the multitude of clinical presentations, the unpredictable disease course, and the variable cell types, soluble mediators, and tissue factors that are believed to play a role in the pathogenesis of connective tissue diseases. The characteristic oral findings seen with these specific connective tissue diseases may assist with more swift diagnostic capability. Additionally, the recent use of biologics may redefine the success rate in the treatment and management of the disease. In this review we describe the oral manifestations associated with SLE, SSc, and SS and review the novel biologic drugs used to treat these conditions.

Neuropsychiatric manifestations in late-onset urea cycle disorder patients

OpenAIRE

Serrano Mercedes L.; Martins Cecilia E.; Pérez-Dueñas Belén; Gómez-López Lilian; Murgui Empar; Fons Carmen; García-Cazorla Ángels; Artuch Rafael M D; Jara Fernando; Arranz José Antonio; Häberle Johannes; Briones Paz; Campistol Jaume M D; Pineda Mercè; Vilaseca María Antònia Antonia

2010-01-01

Inherited urea cycle disorders represent one of the most common groups of inborn errors of metabolism. Late onset urea cycle disorders caused by partial enzyme deficiencies may present with unexpected clinical phenotypes. We report 9 patients followed up in our hospital presenting late onset urea cycle disorders who initially manifested neuropsychiatric/neurodevelopmental symptoms (the most prevalent neuropsychiatric/neurodevelopmental diagnoses were mental retardation attention deficit hyper...

Spontaneous subarachnoid hemorrhage as manifestation of an acoustic neurinoma

International Nuclear Information System (INIS)

Mironov, A.; Voigt, K.; Peiffer, J.; Rios Nogales Carces, L.

1986-01-01

Subarachnoid hemorrhages (SAH) due to intracranial tumors are very rare. We report the clinical, neuroradiological and histological findings of an acoustic neurinoma, the initial and manifestating symptom of which was an acute SAH. In the literature we found only eight further cases of acoustic neurinomas with spontaneous SAH. The causes of the SAH are discussed; and we compare our findings to those in the literature. (orig.) [de

Texas Occurrence of Lyme Disease and Its Neurological Manifestations.

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Dandashi, Jad A; Nizamutdinov, Damir; Dayawansa, Samantha; Fonkem, Ekokobe; Huang, Jason H

2016-06-01

Today, Lyme disease is the most commonly reported tick-borne disease in the United States and Europe. The culprits behind Lyme disease are the Borrelia species of bacteria. In the USA, Borrelia burgdorferi causes the majority of cases, while in Europe and Asia Borrelia afzelii and Borrelia garinii carry the greatest burden of disease. The clinical manifestations of Lyme disease have been identified as early localized, early disseminated, and late chronic. The neurological effects of Lyme disease include both peripheral and central nervous systems involvement, including focal nerve abnormalities, cranial neuropathies, painful radiculoneuritis, meningitis, and/or toxic metabolic encephalopathy, known as Lyme encephalopathy. Given the geographic predominance of Lyme disease in the Northeast and Midwest of the USA, no major studies have been conducted regarding Southern states. Between 2005 and 2014, the Center for Disease Control has reported 582 confirmed cases of Lyme disease in Texas. Because of the potential for increased incidence and prevalence in Texas, it has become essential for research and clinical efforts to be diverted to the region. The Texas A&M College of Veterinary Medicine and Biomedical Sciences Lyme Lab has been investigating the ecology of Lyme disease in Texas and developing a pan-specific serological test for Lyme diagnosis. This report aimed to exposure materials and raise awareness of Lyme disease to healthcare providers.

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.

The Clinical Features of Myositis-Associated Autoantibodies: a Review.

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Gunawardena, Harsha

2017-02-01

The idiopathic inflammatory myopathies (IIM) are a group of autoimmune diseases traditionally defined by clinical manifestations including skeletal muscle weakness, skin rashes, elevated skeletal muscle enzymes, and neurophysiological and/or histological evidence of muscle inflammation. Patients with myositis overlap can develop other features including parenchymal lung disease, inflammatory arthritis, gastrointestinal manifestations and marked constitutional symptoms. Although patients may be diagnosed as having polymyositis (PM) or dermatomyositis (DM) under the IIM spectrum, it is quite clear that disease course between subgroups of patients is different. For example, interstitial lung disease may predominate in some, whereas cutaneous complications, cancer risk, or severe refractory myopathy may be a significant feature in others. Therefore, tools that facilitate diagnosis and indicate which patients require more detailed investigation for disease complications are invaluable in clinical practice. The expanding field of autoantibodies (autoAbs) associated with connective tissue disease (CTD)-myositis overlap has generated considerable interest over the last few years. Using an immunological diagnostic approach, this group of heterogeneous conditions can be separated into a number of distinct clinical phenotypes. Rather than diagnose a patient as simply having PM, DM or overlap CTD, we can define syndromes to differentiate disease subsets that emphasise clinical outcomes and guide management. There are now over 15 CTD-myositis overlap autoAbs found in patients with a range of clinical manifestations including interstitial pneumonia, cutaneous disease, cancer-associated myositis and autoimmune-mediated necrotising myopathy. This review describes their diagnostic utility, potential role in disease monitoring and response to treatment. In the future, routine use of these autoAb will allow a stratified approach to managing this complex set of conditions.

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.

Enigmatic human tails: A review of their history, embryology, classification, and clinical manifestations.

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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.

Fever as an initial manifestation of spondyloarthritis: A retrospective study.

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Se Jin Byun

Full Text Available We aimed to evaluate a wide spectrum of clinical features of adult patients with spondyloarthritis (SpA whose initial manifestation was fever, using the Assessment of SpondyloArthritis international Society (ASAS classification criteria.We retrospectively collected the electronic medical records of hospitalized SpA patients who initially presented to the Severance Hospital (Seoul, Korea with fever from January 2010 to May 2016. As a control group, we also recruited one-hundred consecutive patients who were diagnosed with SpA in our outpatient clinic. Clinical features and laboratory findings were compared in two patient groups.There were 26 patients who had fever as initial presentation of SpA (reactive arthritis 50%, undifferentiated SpA 26.9%, ankylosing spondylitis 15.4%, enteropathic arthritis 3.8%, psoriatic arthritis 3.8%. Peripheral SpA was more common in febrile SpA patients than in control SpA patients (65.4% vs 24.0%, p<0.001. Febrile SpA patients were less frequently HLA-B27 positive than control SpA patients (52.2% vs 77.0%, p<0.05. At baseline, systemic inflammatory markers were significantly higher in the febrile SpA patients (white blood cell count, 11.57 vs 7.81 cells/μL, p<0.001; erythrocyte sedimentation rate, 69.2 vs 41.0 mm/h, p<0.001; C-reactive protein, 109.6 vs 15.3 mg/L, p<0.001. The proportion of patients treated with systemic steroids was significantly higher in febrile SpA patients (57.7% vs. 11.0%, p<0.001. The proportion of patients who visited rheumatology specialty was significantly lower in febrile SpA patients than in control SpA patients (7.7% vs 59.0%, p<0.001.Various subgroups of SpA can be presented with fever as an initial manifestation. Febrile SpA patients demonstrated higher systemic inflammation and a lower chance to visit rheumatology in early stage. When evaluating febrile patients with any clinical features of SpA, clinicians are advised to consider performing SpA-focused evaluation including HLA-B27

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

Intrathoracic Manifestations of IgG4-Related Disease

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Sian Yik Lim

2016-10-01

Full Text Available Intrathoracic involvement with IgG4-related disease (IgG4-RD is frequently overlooked in IgG4-related disease patients. In this article we review the intrathoracic findings of IgG4-RD which are variable and protean. IgG4-related disease has been reported to affect the lung parenchyma, pleura, mediastinal/hilar lymph nodes, vasculature, and pericardium within the thorax. Mediastinal and hilar lymphadenopathy is the most common intrathoracic manifestation of IgG4-RD. Four main patterns of pulmonary disease have been described, including the solid nodular type, the bronchovascular type, the alveolar interstitial type, and the round shaped ground glass type. When feasible, a biopsy should be obtained to confirm the diagnosis. Most lesions show characteristic pathologic findings of IgG4-RD: dense lymphoplasmacytic infiltrate, storiform fibrosis, and obliterative phlebitis. While this helps establish the diagnosis, the interpretation of pathology findings in the clinical context is key in making an accurate diagnosis. Mimickers of IgG4-RD should be ruled out, before making a diagnosis. The intrathoracic findings of IgG4-RD can be treated effectively with prednisone, but may require additional immunosuppressive therapies, including rituximab.

Ear nose throat manifestations in hypoidrotic ectodermal dysplasia.

Science.gov (United States)

Callea, Michele; Teggi, Roberto; Yavuz, Izzet; Tadini, Gianluca; Priolo, Manuela; Crovella, Sergio; Clarich, Gabriella; Grasso, Domenico Leonardo

2013-11-01

The ectodermal dysplasias (EDs) are a large and complex group of inherited disorders. In various combinations, they all share anomalies in ectodermal derived structures: hair, teeth, nails and sweat gland function. Clinical overlap is present among EDs. Few causative genes have been identified, to date. Altered gene expression is not limited to the ectoderm but a concomitant effect on developing mesenchymal structures, with modification of ectodermal-mesenchymal signaling, takes place. The two major categories of ED include the hidrotic and hypohidrotic form, the latter more frequent; they differentiate each other for the presence or absence of sweat glands. We report Ear Nose Throat manifestations of ED, linked to the reduction of mucous glands in the nasal fossae with reduced ciliar function, and decrease salivary glands function. Often patients report an increased rate of infections of the upper respiratory tract and of the ear. Nasal obstruction due to the presence of nasal crusting, hearing loss and throat hoarseness are the most represented symptoms. Environmental measures, including a correct air temperature and humidification, is mandatory above all in subjects affected by hypohidrotic form. Copyright © 2013 Elsevier Ireland Ltd. All rights reserved.

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.)

Neurological manifestations of Chikungunya and Zika infections

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Talys J. Pinheiro

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

CT and MR manifestations of acute methyl alcohol toxic encephalopathy

International Nuclear Information System (INIS)

Mao Xiaofen; Yang Bo; Ye Gengxin; Zhang Cheng

2009-01-01

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

Systemic Manifestations in Pyridox(am)ine 5'-Phosphate Oxidase Deficiency.

Science.gov (United States)

Guerriero, Réjean M; Patel, Archana A; Walsh, Brian; Baumer, Fiona M; Shah, Ankoor S; Peters, Jurriaan M; Rodan, Lance H; Agrawal, Pankaj B; Pearl, Phillip L; Takeoka, Masanori

2017-11-01

Pyridoxine is converted to its biologically active form pyridoxal-5-phosphate (P5P) by the enzyme pyridox(am)ine 5'-phosphate oxidase and serves as a cofactor in nearly 200 reactions in the central nervous system. Pyridox(am)ine 5'-phosphate oxidase deficiency leads to P5P dependent epilepsy, typically a neonatal- or infantile-onset epileptic encephalopathy treatable with P5P or in some cases, pyridoxine. Following identification of retinopathy in a patient with pyridox(am)ine 5'-phosphate oxidase deficiency that was reversible with P5P therapy, we describe the systemic manifestations of pyridox(am)ine 5'-phosphate oxidase deficiency. A series of six patients with homozygous mutations of PNPO, the gene coding pyridox(am)ine 5'-phosphate oxidase, were evaluated in our center over the course of two years for phenotyping of neurological and systemic manifestations. Five of six were born prematurely, three had anemia and failure to thrive, and two had elevated alkaline phosphatase. A movement disorder was observed in two children, and a reversible retinopathy was observed in the most severely affected infant. All patients had neonatal-onset epilepsy and were on a continuum of developmental delay to profound encephalopathy. Electroencephalographic features included background slowing and disorganization, absent sleep features, and multifocal and generalized epileptiform discharges. All the affected probands carried a homozygous PNPO mutation (c.674 G>T, c.686 G>A and c.352G>A). In addition to the well-described epileptic encephalopathy, pyridox(am)ine 5'-phosphate oxidase deficiency causes a range of neurological and systemic manifestations. A movement disorder, developmental delay, and encephalopathy, as well as retinopathy, anemia, and failure to thrive add to the broadening clinical spectrum of P5P dependent epilepsy. Copyright © 2017 Elsevier Inc. All rights reserved.

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

Science.gov (United States)

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

2016-01-28

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

Psychiatric manifestations of Graves' hyperthyroidism: pathophysiology and treatment options.

Science.gov (United States)

Bunevicius, Robertas; Prange, Arthur J

2006-01-01

Graves' disease is an autoimmune disorder that is the most common cause of hyperthyroidism. Other symptoms associated with the disease are goitre, ophthalmopathy, and psychiatric manifestations such as mood and anxiety disorders and, sometimes, cognitive dysfunction. Graves' hyperthyroidism may result in these latter manifestations via the induction of hyperactivity of the adrenergic nervous system. This review addresses the psychiatric presentations, and their pathophysiology and treatment, in patients with hyperthyroidism, based on literature identified by a PubMed/MEDLINE database search. Although the focus is on mental symptoms associated with Graves' disease, it is not always clear from the literature whether patients had Graves' disease: in some studies, the patients were thought to have Graves' disease based on clinical findings such as diffuse goitre or ophthalmopathy or on measurements of thyroid antibodies in serum; however, in other studies, no distinction was made between Graves' hyperthyroidism and hyperthyroidism from other causes. Antithyroid drugs combined with beta-adrenoceptor antagonists are the treatments of choice for hyperthyroidism, as well as for the psychiatric disorders and mental symptoms caused by hyperthyroidism. A substantial proportion of patients have an altered mental state even after successful treatment of hyperthyroidism, suggesting that mechanisms other than hyperthyroidism, including the Graves' autoimmune process per se and ophthalmopathy, may also be involved. When psychiatric disorders remain after restoration of euthyroidism and after treatment with beta-adrenoceptor antagonists, specific treatment for the psychiatric symptoms, especially psychotropic drugs, may be needed.

Abnormal resting-state connectivity of motor and cognitive networks in early manifest Huntington's disease.

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Wolf, R C; Sambataro, F; Vasic, N; Depping, M S; Thomann, P A; Landwehrmeyer, G B; Süssmuth, S D; Orth, M

2014-11-01

Functional magnetic resonance imaging (fMRI) of multiple neural networks during the brain's 'resting state' could facilitate biomarker development in patients with Huntington's disease (HD) and may provide new insights into the relationship between neural dysfunction and clinical symptoms. To date, however, very few studies have examined the functional integrity of multiple resting state networks (RSNs) in manifest HD, and even less is known about whether concomitant brain atrophy affects neural activity in patients. Using MRI, we investigated brain structure and RSN function in patients with early HD (n = 20) and healthy controls (n = 20). For resting-state fMRI data a group-independent component analysis identified spatiotemporally distinct patterns of motor and prefrontal RSNs of interest. We used voxel-based morphometry to assess regional brain atrophy, and 'biological parametric mapping' analyses to investigate the impact of atrophy on neural activity. Compared with controls, patients showed connectivity changes within distinct neural systems including lateral prefrontal, supplementary motor, thalamic, cingulate, temporal and parietal regions. In patients, supplementary motor area and cingulate cortex connectivity indices were associated with measures of motor function, whereas lateral prefrontal connectivity was associated with cognition. This study provides evidence for aberrant connectivity of RSNs associated with motor function and cognition in early manifest HD when controlling for brain atrophy. This suggests clinically relevant changes of RSN activity in the presence of HD-associated cortical and subcortical structural abnormalities.

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

ENT manifestations of alkaptonuria: report on a case series.

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Steven, R A; Kinshuck, A J; McCormick, M S; Ranganath, L R

2015-10-01

Alkaptonuria is an inborn error of metabolism. It is a multisystem disease with characteristic ENT manifestations. This paper reports, for the first time, the ENT findings in a cohort of alkaptonuria patients. Patients attending the National Centre for Alkaptonuria (Royal Liverpool and Broadgreen University Hospitals NHS Trust) underwent a full ENT assessment. Eighteen of the 20 patients (90 per cent) had an ENT sign or symptom. These included discolouration of the pinna, cerumen, nasal septum and pharynx. Discolouration of cerumen may occur before 30 years of age and may therefore be an important early clinical sign. Further audiological assessment of patients is needed to clarify if an association exists between alkaptonuria and hearing loss. Alkaptonuria is a condition that could present to the otolaryngologist. Successful early diagnosis and referral to a specialist centre is essential so that patients can be offered disease-modifying therapy.

The role of the amygdala during emotional processing in Huntington's disease: from pre-manifest to late stage disease.

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Mason, Sarah L; Zhang, Jiaxiang; Begeti, Faye; Guzman, Natalie Valle; Lazar, Alpar S; Rowe, James B; Barker, Roger A; Hampshire, Adam

2015-04-01

Deficits in emotional processing can be detected in the pre-manifest stage of Huntington's disease and negative emotion recognition has been identified as a predictor of clinical diagnosis. The underlying neuropathological correlates of such deficits are typically established using correlative structural MRI studies. This approach does not take into consideration the impact of disruption to the complex interactions between multiple brain circuits on emotional processing. Therefore, exploration of the neural substrates of emotional processing in pre-manifest HD using fMRI connectivity analysis may be a useful way of evaluating the way brain regions interrelate in the period prior to diagnosis. We investigated the impact of predicted time to disease onset on brain activation when participants were exposed to pictures of faces with angry and neutral expressions, in 20 pre-manifest HD gene carriers and 23 healthy controls. On the basis of the results of this initial study went on to look at amygdala dependent cognitive performance in 79 Huntington's disease patients from a cross-section of disease stages (pre-manifest to late disease) and 26 healthy controls, using a validated theory of mind task: "the Reading the Mind in the Eyes Test" which has been previously been shown to be amygdala dependent. Psychophysiological interaction analysis identified reduced connectivity between the left amygdala and right fusiform facial area in pre-manifest HD gene carriers compared to controls when viewing angry compared to neutral faces. Change in PPI connectivity scores correlated with predicted time to disease onset (r=0.45, pneural networks underlying social cognition and emotional processing can be detected prior to clinical diagnosis in Huntington's disease. Connectivity between the amygdala and other brain regions is impacted by the disease process in pre-manifest HD and may therefore be a useful way of identifying participants who are approaching a clinical diagnosis

MT-ND5 Mutation Exhibits Highly Variable Neurological Manifestations at Low Mutant Load

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Yi Shiau Ng

2018-04-01

Full Text Available Mutations in the m.13094T>C MT-ND5 gene have been previously described in three cases of Leigh Syndrome (LS. In this retrospective, international cohort study we identified 20 clinically affected individuals (13 families and four asymptomatic carriers. Ten patients were deceased at the time of analysis (median age of death was 10 years (range: 5·4 months−37 years, IQR = 17·9 years. Nine patients manifested with LS, one with mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS, and one with Leber hereditary optic neuropathy. The remaining nine patients presented with either overlapping syndromes or isolated neurological symptoms. Mitochondrial respiratory chain activity analysis was normal in five out of ten muscle biopsies. We confirmed maternal inheritance in six families, and demonstrated marked variability in tissue segregation, and phenotypic expression at relatively low blood mutant loads. Neuropathological studies of two patients manifesting with LS/MELAS showed prominent capillary proliferation, microvacuolation and severe neuronal cell loss in the brainstem and cerebellum, with conspicuous absence of basal ganglia involvement. These findings suggest that whole mtDNA genome sequencing should be considered in patients with suspected mitochondrial disease presenting with complex neurological manifestations, which would identify over 300 known pathogenic variants including the m.13094T>C. Keywords: Mitochondrial encephalomyopathy, Lactic acidosis and stroke-like episodes (MELAS, Leigh syndrome (LS, Mitochondrial DNA, Heteroplasmy, Neuropathology

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

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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.

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.

Gastrointestinal Manifestations of Cystic Fibrosis

Science.gov (United States)

2016-01-01

Cystic fibrosis has historically been considered a pulmonary disease, but with the increasing life expectancy of these patients, gastrointestinal manifestations are becoming more important. Furthermore, nutritional status is closely linked to pulmonary function and, thus, overall mortality. This article discusses gastrointestinal manifestations (which involve nutritional, pancreatic, hepatobiliary, and, in particular, gastrointestinal tract issues) of cystic fibrosis as well as management of the disease. In addition, the article discusses studies that have been critical to our understanding of gastrointestinal manifestations of cystic fibrosis. PMID:27330503

Oromandibular Dyskinesia as the Initial Manifestation of Late-Onset Huntington Disease

Directory of Open Access Journals (Sweden)

Dong-Seok Oh

2011-10-01

Full Text Available Huntington’s disease (HD is a neurodegenerative disorder characterized by a triad of choreoathetosis, dementia and dominant inheritance. The cause of HD is an expansion of CAG trinucleotide repeats in the HD gene. Typical age at onset of symptoms is in the 40s, but the disorder can manifest at any time. Late-onset (≥ 60 years HD is clinically different from other adult or juvenile onset HD and characterized by mild motor problem as the initial symptoms, shorter disease duration, frequent lack of family history, and relatively low CAG repeats expansion. We report a case of an 80-year-old female with oromandibular dyskinesia as an initial manifestation of HD and 40 CAG repeats.

Calcium pyrophosphate deposition disease: clinical manifestations

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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.

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.

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.

Cutaneous manifestations in patients with mastocytosis: Consensus report of the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology.

Science.gov (United States)

Hartmann, Karin; Escribano, Luis; Grattan, Clive; Brockow, Knut; Carter, Melody C; Alvarez-Twose, Ivan; Matito, Almudena; Broesby-Olsen, Sigurd; Siebenhaar, Frank; Lange, Magdalena; Niedoszytko, Marek; Castells, Mariana; Oude Elberink, Joanna N G; Bonadonna, Patrizia; Zanotti, Roberta; Hornick, Jason L; Torrelo, Antonio; Grabbe, Jürgen; Rabenhorst, Anja; Nedoszytko, Boguslaw; Butterfield, Joseph H; Gotlib, Jason; Reiter, Andreas; Radia, Deepti; Hermine, Olivier; Sotlar, Karl; George, Tracy I; Kristensen, Thomas K; Kluin-Nelemans, Hanneke C; Yavuz, Selim; Hägglund, Hans; Sperr, Wolfgang R; Schwartz, Lawrence B; Triggiani, Massimo; Maurer, Marcus; Nilsson, Gunnar; Horny, Hans-Peter; Arock, Michel; Orfao, Alberto; Metcalfe, Dean D; Akin, Cem; Valent, Peter

2016-01-01

Cutaneous lesions in patients with mastocytosis are highly heterogeneous and encompass localized and disseminated forms. Although a classification and criteria for cutaneous mastocytosis (CM) have been proposed, there remains a need to better define subforms of cutaneous manifestations in patients with mastocytosis. To address this unmet need, an international task force involving experts from different organizations (including the European Competence Network on Mastocytosis; the American Academy of Allergy, Asthma & Immunology; and the European Academy of Allergology and Clinical Immunology) met several times between 2010 and 2014 to discuss the classification and criteria for diagnosis of cutaneous manifestations in patients with mastocytosis. This article provides the major outcomes of these meetings and a proposal for a revised definition and criteria. In particular, we recommend that the typical maculopapular cutaneous lesions (urticaria pigmentosa) should be subdivided into 2 variants, namely a monomorphic variant with small maculopapular lesions, which is typically seen in adult patients, and a polymorphic variant with larger lesions of variable size and shape, which is typically seen in pediatric patients. Clinical observations suggest that the monomorphic variant, if it develops in children, often persists into adulthood, whereas the polymorphic variant may resolve around puberty. This delineation might have important prognostic implications, and its implementation in diagnostic algorithms and future mastocytosis classifications is recommended. Refinements are also suggested for the diagnostic criteria of CM, removal of telangiectasia macularis eruptiva perstans from the current classification of CM, and removal of the adjunct solitary from the term solitary mastocytoma. Copyright © 2015 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Abdominal manifestations of cystic fibrosis in children

International Nuclear Information System (INIS)

Chaudry, Gulraiz; Navarro, Oscar M.; Levine, Daniel S.; Oudjhane, Kamaldine

2006-01-01

Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities. (orig.)

Abdominal manifestations of cystic fibrosis in children

Energy Technology Data Exchange (ETDEWEB)

Chaudry, Gulraiz; Navarro, Oscar M.; Levine, Daniel S.; Oudjhane, Kamaldine [University of Toronto, Department of Diagnostic Imaging, Hospital for Sick Children, Toronto, ON (Canada)

2006-03-15

Pulmonary complications remain the main cause of mortality in cystic fibrosis, but the presenting symptoms in children are often related to gastrointestinal or pancreaticobiliary disease. Furthermore, abdominal manifestations are now seen throughout childhood, from infancy to adolescence. The child might present in the neonatal period with meconium ileus or its attendant complications. The older child might present with distal intestinal obstruction syndrome or colonic stricture secondary to high doses of pancreatic enzyme replacement. Less-common gastrointestinal manifestations include intussusception, duodenitis and fecal impaction of the appendix. Most children also show evidence of exocrine pancreatic deficiency. Radiologically, the combination of fat deposition and pancreatic fibrosis leads to varying CT and MR appearances. A higher than normal incidence of pancreatic cysts and calcification is also seen. Decreased transport of water and chloride also increases the viscosity of bile, with subsequent obstruction of the biliary ductules. If extensive, this can progress to obstructive cirrhosis, portal hypertension and esophageal varices. Diffuse fatty infiltration, hypersplenism and gallstones are also commonly seen in these patients. We present a pictorial review of the radiological appearance of these abdominal manifestations. The conditions are dealt with individually, together with typical appearances in various imaging modalities. (orig.)

40 CFR 263.20 - The manifest system.

Science.gov (United States)

2010-07-01

... person if he knows the shipment does not conform to the EPA Acknowledgment of Consent; and unless, in... without a tracking document that includes all information required by 40 CFR 262.84. (3) Compliance Date... designated facility on either the manifest or the shipping paper; and (4) The person delivering the hazardous...

How does leadership manifest in the patient-therapist interaction among physiotherapists in primary health care? A qualitative study.

Science.gov (United States)

Rasmussen-Barr, Eva; Savage, Mairi; Von Knorring, Mia

2018-05-18

Health care is undergoing changes and this requires the participation and leadership of all health-care professions. While numerous studies have explored leadership competence among physicians and nurses, the physiotherapy profession has received but limited attention. The aim of this study was to explore how leadership manifests in the patient-therapist interaction among physiotherapists in primary health care and how the physiotherapists themselves relate their perception of leadership to their clinical practice. A qualitative study with semi-structured interviews was conducted with a purposive sample of 10 physiotherapists working in primary health care. The interviews were analyzed using inductive qualitative content analysis. Five themes were identified related to how leadership manifests in the patient-therapist interaction: (1) establishing resonant relationships; (2) engaging patients to build ownership; (3) drawing on authority; (4) building on professionalism; and (5) relating physiotherapists clinical practice to leadership. This study describes how leadership manifests in the patient-physiotherapist interaction. The findings can be used to empower physiotherapists in their clinical leadership and to give them confidence in taking on formal leadership roles, thus becoming active participants in improving health care. Future studies are needed to explore other aspects of leadership used in physiotherapy clinical practice.

Urological manifestations of Duchenne muscular dystrophy.

Science.gov (United States)

Askeland, Eric J; Arlen, Angela M; Erickson, Bradley A; Mathews, Katherine D; Cooper, Christopher S

2013-10-01

Duchenne muscular dystrophy is a dystrophinopathy affecting males that is associated with multiple organ system complications. To our knowledge urological complications of Duchenne muscular dystrophy have been described only anecdotally to date. We reviewed the medical charts of 135 patients with Duchenne or Duchenne-Becker muscular dystrophy for demographics and disease progression, urological diagnoses, intervention and followup. Of 135 patients 67 (50%) had at least 1 documented urological diagnosis and 38 (28%) had multiple manifestations. Lower urinary tract symptoms were the most common urological diagnosis (32% of patients). Survival analysis revealed a median age at onset of lower urinary tract symptoms of 23 years (95% CI 17.7-23.9). Intervention was required in 12 patients (9%), most commonly due to nephrolithiasis. Urological morbidity increased with Duchenne muscular dystrophy progression when stratified by clinical progression. Lower urinary tract symptoms were more common in nonambulatory patients (40.7% vs 19%, p = 0.007), those with a diagnosis of scoliosis (44% vs 19.7%, p = 0.003) and/or scoliosis spine surgery (60% vs 22%, p <0.001), and those on invasive respiratory support (53% vs 29%, p = 0.046). Likewise, nephrolithiasis was more common in nonambulatory patients (10% vs 0%, p = 0.017), those with scoliosis (12% vs 0%, p = 0.004) and/or scoliosis spine surgery (20% vs 1%, p <0.001), and those on invasive respiratory support (29% vs 3%, p <0.001). Only 28% of patients with a urological manifestation were referred to urology. As these patients transition into adolescence and adulthood, the increased prevalence of urological manifestations warrants increased awareness and referral to urologists. Copyright © 2013 American Urological Association Education and Research, Inc. Published by Elsevier Inc. All rights reserved.

Pericarditis as presenting manifestation of acute nonlymphocytic leukemia in a young child.

Science.gov (United States)

Chu, J Y; Demello, D; O'Connor, D M; Chen, S C; Gale, G B

1983-07-15

A case of acute nonlymphocytic leukemia presenting as pericarditis is reported in a five-year-old boy. Initially, a clinical diagnosis of viral pericarditis was made, because the child did not demonstrate hematologic or clinical manifestations of leukemia. Acute undifferentiated or lymphocytic leukemia. Acute undifferentiated or lymphocytic leukemia was diagnosed one week after admission when his peripheral blood count became abnormal. The patient did not respond to vincristine and prednisone. When cytochemical evaluation indicated acute myelomonocytic leukemia, employment of cytosine arabinoside and 6-thioguanine was instituted and the child began to improve. Currently, he is still in good remission and has no evidence of recurrence of pericarditis, 1 1/2 years after his initial presentation. In reviewing the literature, we found 17 patients who had leukemic pericardial effusion with cardiac tamponade. There are three reported cases of young children with pericardial effusion as the initial manifestation of acute lymphocytic leukemia, but no reported cases due to nonlymphocytic leukemia, as in this child.

[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

Oral and periodontal manifestations associated with systemic sclerosis: A case series and review.

Science.gov (United States)

Jagadish, Rekha; Mehta, Dhoom Singh; Jagadish, P

2012-04-01

Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient's informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

Oral and periodontal manifestations associated with systemic sclerosis: A case series and review

Directory of Open Access Journals (Sweden)

Rekha Jagadish

2012-01-01

Full Text Available Systemic sclerosis is a rare connective tissue disorder with a wide range of oral manifestations. This case series reports significant oral and periodontal changes and also makes an attempt to correlate oral and systemic findings in these patients which enable the clinician for a better diagnosis and evolve a comprehensive treatment plan. Six patients with a known diagnosis of systemic sclerosis were included. After obtaining the patient′s informed consent, relevant medical history, oral manifestations including periodontal findings and oral hygiene index simplified index were recorded. In these patients, oral changes included restricted mouth opening and, resorption of the mandible. The periodontal changes observed were gingival recession, absence or minimal gingival bleeding on probing, and widened periodontal ligament space, radiographically. Patients with systemic sclerosis often show wide range of oral manifestations, which is of major concern for the dentist.

Vascular Manifestations in Antiphospholipid Syndrome (APS): Is APS a Thrombophilia or a Vasculopathy?

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Siddique, Salma; Risse, Jessie; Canaud, Guillaume; Zuily, Stéphane

2017-09-04

Antiphospholipid antibody syndrome (APS) is characterized primarily by thrombosis and pregnancy morbidity. Chronic vascular lesions can also occur. While the underlying mechanisms of these vascular lesions are not entirely known, there have been multiple theories describing the potential process of vasculopathy in APS and the various clinical manifestations associated with it. Recently, it has been demonstrated that endothelial proliferation in kidneys can be explained by the activation of the mammalian target of rapamycin complex (mTORC) pathway by antiphospholipid antibodies (aPL). These data support the existence of an APS-related vasculopathy in different locations which can explain-in part-the different manifestations of APS. This review focuses on the various manifestations of APS as a result of APS-related vasculopathy, as well as pathophysiology, current screening, and treatment options for clinicians to be aware of.

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

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Lutwak, Nancy; Dill, Curt

2012-01-01

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

Pulmonary Embolism as the First Manifestation of Multiple Myeloma

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N. Vallianou

2013-01-01

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

Effect of intravenous lidocaine combined with amitriptyline on pain intensity, clinical manifestations and the concentrations of IL-1, IL-6 and IL-8 in patients with fibromyalgia: A randomized double-blind study.

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Albertoni Giraldes, Ana Laura; Salomão, Reinaldo; Leal, Plinio da Cunha; Brunialti, Milena Karina Coló; Sakata, Rioko Kimiko

2016-10-01

Regarding the use of intravenous lidocaine in fibromyalgia, there are no well-controlled studies. This study aimed to evaluate the effect of intravenous lidocaine on pain intensity, clinical manifestations and plasma levels of interleukin (IL)-1, IL-6, and IL-8 in fibromyalgia patients. In a randomized double-blind study, group 1 patients received 240 mg of lidocaine in 125 mL of saline solution, while group 2 patients received 125 mL of saline, both once a week for 4 weeks (T1, T2, T3 and T4). All patients received amitriptyline. The following were assessed: pain intensity before treatment (T0) and at 1, 2, 3, 4 and 8 weeks after treatment; clinical manifestations; the fibromyalgia impact questionnaire (FIQ) before and at 4 and 8 weeks after; the levels of IL 1, 6 and 8 before and at 4 and 8 weeks after treatment. Lower pain intensity was observed in the lidocaine group at T2, with no difference at the other time points. There was a reduction in pain intensity in both groups. The use of paracetamol and tramadol and plasma levels of IL-1, IL-6 and IL-8 did not differ between the groups. Clinical manifestations and side effects did not differ between groups. The combination of 240 mg of intravenous lidocaine (once a week for 4 weeks) with 25 mg of amitriptyline for 8 weeks had no meaningful impact in fibromyalgia patients. © 2016 Asia Pacific League of Associations for Rheumatology and John Wiley & Sons Australia, Ltd.

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

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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.

Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review.

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Ferreli, Caterina; Gasparini, Giulia; Parodi, Aurora; Cozzani, Emanuele; Rongioletti, Franco; Atzori, Laura

2017-12-01

Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct

Fibronectin gene polymorphisms and clinical manifestations of mixed cryoglobulinemic syndrome: increased risk of lymphoma associated to MspI DD and HaeIII AA genotypes

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C. Fabro

2011-09-01

Full Text Available Objective: To analyse FN gene polymorphisms in type II mixed cryoglobulinemic syndrome (MCsn, an immune-complex mediated systemic vasculitis linked to hepatitis C virus (HCV infection and characterized by rheumatoid factor (RF positive B-cell proliferation at high risk for the progression into non Hodgkin’s lymphoma (NHL. Methods: Samples from eighty-one patients, with MCsn (type II serum cryoglobulins and clinical signs of vasculitis were studied. Sixthy-five (65/81, 80.3% patients were HCV-positive. Twenty-one (25.9% patients had developed a B-cell NHL during the course of MCsn. Seventy-two patients with HCV-negative and MC-unrelated NHL and 110 healthy blood donors (HBDs were taken as controls. HaeIIIb and MspI FN gene polymorphisms were analysed by PCR and specific restriction enzyme digestions, following reported procedures. Plasma FN levels were analysed by ELISA, whenever possible. Results: HaeIIIb and MspI allele and genotype frequencies did not differ between MCsn patients and HBDs. Of note, the DD-MspI (OR=5.56; CI=1.67-18.51, p=0.0046 and the AA-HaeIIIb (OR=5.54; CI=1.64-18.76, p=0.0066 homozygosis appeared significantly and independently associated with the development of B-cell NHL in MCsn patients, with the HaeIIIb A allele possibly conferring an increased risk of NHL in the general population (OR=1.72, CI=1.128- 2.635, p=0.0133. In contrast, the major vasculitic manifestations, such as peripheral neuropathy, skin ulcers and glomerulonephritis tended to be associated with the counterpart MspI C allele. No association between FN plasma levels and FN genotypes was found. Conclusion: Genotyping for MspI and HaeIIIb FN gene polymorphisms may be clinically relevant to define the predisposition to the major clinical manifestations in MCsn.

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

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Paras Karmacharya

2015-06-01

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

[Myelophthisis and kasabach merrit syndrome as initial manifestation of splenic angiosarcoma].

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Serra, Jeremias Tomas; Orozco, Maira J; Prato, Franco J; Sánchez, Victoria; Basqueira, Ana J; Brocca, Carlos A

2016-01-01

Primary splenic angiosarcoma is an extremely agressive and rare neoplasm. Manifestations as bone marrow invasion and coagulation disorders have been reported isolatedly. A 26 years-old woman presented with abdominal pain; several anemia and thrombocytopenia associated to leukoerythroblastic reaction were found in the laboratory. Consumpion coagulopathy signs and microangiopathy as schistocytes, prolonged prothrombine time, decreased fibrinogen and increased D dimer were also present. Imaging findings included a lobulated, enlarged spleen, with spontanously hyperdense areas, and heterogeneous nodules with intense, irregular enhancement after contrast administration. There were hepatic and pulmonary metastases, as well as bone lesions with conspicuous vessels. Clinical features of Kasabach-Merrit syndrome and imaging vascular neoplasm characteristics suggest a primary splenic angiosarcoma. Splenectomy and bone marrow biopsy confirmed the diagnosis of primary splenic angiosarcoma in metastatic stage.

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

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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.)

Clinical heterogeneity in Fabry disease

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G. N. Salogub

2015-01-01

Full Text Available Fabry disease is an X-linked, lysosomal storage disease (OMIM: 301500, caused by α-galactosidase A deficiency, resulting in accumulation of its substrates, glycosphingolipids, primarily – globotriaosylceramide, in the lysosomes of multiple cell types with multi-system clinical manifestations, even within the same family, including abnormalities of the central and peripheral nervous system, kidneys, heart, gastrointestinal tract, lungs, organ of vision. Clinical heterogeneity is often the reason of the delayed diagnosis. Nowadays enzyme replacement therapy has proved its efficiency in the treatment of Fabry disease. Including Fabry disease in the differential diagnosis of a large range of disorders is important because of its wide clinical heterogeneity and the possibility of an earlier intervention with a beneficial treatment.

Clinical Manifestations of Helicobacter pylori-Negative Gastritis.

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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.

Acute respiratory failure as primary manifestation of antineutrophil cytoplasmic antibodies-associated vasculitis

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Evdokia Sourla

2014-07-01

Full Text Available The systemic vasculitides are multifocal diseases characterized by the presence of blood vessel inflammation in multiple organ systems. Their clinical presentation is variable extending from self-limited illness to critical complications including diffuse alveolar hemorrhage and glomerulonephritis. Alveolar hemorrhage is a lifethreatening manifestation of pulmonary vasculitis that can rapidly progress into acute respiratory failure requiring ventilatory support. We present the case of a 74-year-old patient admitted to the Intensive Care Unit with severe hypoxic respiratory failure and diffuse alveolar infiltrates in chest imaging that was later diagnosed as antineutrophil cytoplasmic antibodies-associated vasculitis. The report highlights the importance of differentiate between alveolar hemorrhage and acute respiratory distress syndrome of other etiology because alveolar hemorrhage is reversible with prompt initiation of treatment.