نتایج جستجو برای: heterogeneous syndrome
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Corticobasal syndrome (CBS) is an atypical parkinsonian syndrome of great interest to movement disorder specialists and behavioral neurologists. Although originally considered a primary motor disorder, it is now also recognized as a cognitive disorder, usually presenting cognitive deficits before the onset of motor symptoms. The term CBS denotes the clinical phenotype and is associated with a h...
We report a new lethal multiple congenital abnormality (MCA) syndrome of exomphalos, short limbs, nuchal web, macrogonadism, and facial dysmorphism in seven fetuses (six males and one female) belonging to three unrelated families. X rays showed enlarged and irregular metaphyses with a heterogeneous pattern of mineralisation of the long bones. Pathological examination showed adrenal cytomegaly, ...
Schizophrenia is a heterogeneous disorder. The syndrome and the symptom-oriented approaches are two methods that have been used to examine differences in psychopathological processes across different patients with schizophrenia. The authors indirectly compared these two approaches in their examination of associations between positive symptoms and neuropsychological performance. Positive syndrom...
Noonan syndrome is a relatively common and heterogeneous genetic disorder, associated with congenital heart defect in about 50% of the cases. If the defect is not severe, life expectancy is normal. We report a case of Noonan syndrome in a preterm infant with hypertrophic cardiomyopathy and lethal outcome associated to acute respiratory distress syndrome caused by Adenovirus pneumonia. A novel m...
Adrenocortical carcinoma (ACC) is an uncommon malignancy originating from cortex of adrenal gland. The most common pitfall in diagnosis of ACC is to distinguish it from pheochromocytoma. Here we report a 62-year-old hypertensive man with presentation of dyspnea. The laboratory data showed an increase in urine cortisol and renin with a mild increase in aldosterone, but decrease in adrenocorticot...
Introduction: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. ...
Ehlers-Danlos syndrome is an inherited heterogeneous group of connective tissue disorders, characterized by abnormal collagen synthesis, affecting skin, ligaments, joints, blood vessels and other organs. It is one of the oldest known causes of bruising and bleeding and was first described by Hipprocrates in 400 BC. Edvard Ehlers, in 1901, recognized the condition as a distinct entity. In 1908, ...
Eosinophilic myocarditis (EM) is a rare condition that may result from several heterogeneous eosinophilic diseases, including parasite infection, hypersensitivity reaction, vasculitis, and hypereosinophilic syndrome. Regardless of etiology, the disease may present with various cardiac conditions, such as acute coronary syndrome, heart failure, or arrhythmia. Irreversible endomyocardial fibrosis...
Diabetes mellitus is a common metabolic disorder cha racterized by hyperglycemia in the post-prandial and/or the fasting state which, in its most florid form, is accompanied by ketosis and protein wasting. As such, diabetes mellitus is a syndrome rather than a specific disease entity. Moreover, it is a syndrome which is heterogeneous with respect to its etiology and/or its pathogenesis. cations...
Background Primary Sjögren’s Syndrome (pSS) is a chronic autoimmune syndrome characterised by sicca symptoms, fatigue, musculoskeletal pain and an increased risk of lymphoma. Patient populations are notably heterogeneous in their symptoms, adding to the challenge of pSS research. This study utilises serum samples from the UK Primary Sjögren’s Syndrome Registry (UKPSSR) a large cohort of clinica...
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