[PDF] Top 20 ALPORT’S SYNDROME: A CASE REPORT

... Alport syndrome. The histologic changes seen in the kidney in Alport syndrome include early thinning of the basement membrane and late development of longitudinal splitting of the glomerular ... See full document

... rações do esôfago cervical apresenta baixa morbidade, podendo oferecer aos pacientes a preservação do órgão em um único tempo cirúrgico, sendo o tratamento de es- colha em muitos Serviço[r] ... See full document

... Abstract: Lichen nitidus is a disease of unknown etiology, characterized by flesh-colored, shiny papules of 1-2 mm and generally asymptomatic or with mild pruritus. The most common sites of occurrence are genitalia, ... See full document

... Sneddon’s syndrome is a rare disorder characterized by the occurrence of cerebrovascular disease associated with livedo ...antiphospholipid syndrome is the most frequent type of acquired thrombophilia, ... See full document

... associated with presence of scaly lesions on 2. Subramaniam P, Mathew S, Gupta K K. the hands and toes for the last 9 years. Early Papillon-Lefevre Syndrome: A case report. J exfoliation of ... See full document

... Perlman syndrome, Beckwith –Wiedemann syndrome, VACTERL association, Pfeiffer syndrome type 3, and MMIHS suggesting the possi- bility of a common pathogenesis ... See full document

... Lange´s syndrome is a genetic anomaly, described and published by Cornelia Catharina of Lange in 1933, however, their aspects were described previously by Winfried Robert Clemens Brechmann in 1916, that’s ... See full document

... The prognosis of the VAHS is mainly based in the severity and duration of the cytopenias. Long-term neutropenia increases the risk of severe infections, including gram-positive bacteria, such as S. aureus. ... See full document

... We report a case of 15 year old female, age of 5 years, presented to us with diabetic the ...be s than 3 rd percentile) and weight was 27 kg (le und face and protuberant ...Mauriac syndrome is ... See full document

... Case report: We report the case of a 24-h-old newborn with Goldenhar’s syndrome. He had esophageal atresia with distal tracheoesophageal fistula. It was decided that an emergency ... See full document

... autoimmune syndrome is defined as multiple endocrine gland insufficiencies accompanied by autoimmune diseas- es of the endocrine and nonendocrine ...a case of nontuberculosis adrenal gland dysfunction with ... See full document

... Case description: Female patient with Sjögren’s Syndrome referred for prosthetic rehabilitation, presented with drying of the face, eyes, lips and of all the buccal mucosa. She complained of difficulty of ... See full document

... features and motor inhibition, a diagnosis of Cotard’s syndrome and catatonia was considered. Initial pharmacological prescription – once patient was admitted on the psychiatric uni- ty – included olanzapine 10 ... See full document

... On the sixth day of illness, the patient’s clinical condition deteriorated further and she presented psychomotor agitation, arterial hypotension and acute respiratory failure. The patient was referred to the intensive ... See full document

... this syndrome has been solely focused on addressing sensorineural hearing loss by cochlear implants if detected at an early age, the occurence of reduced vision, problems related to the ocular appearance, as well ... See full document

... Goldbloom’s syndrome (GS) is a rare clinical con- dition of unknown aetiology, occurring exclusively in the pediatric ...a case report illustrating the diagnostic challenge of this ... See full document

... ji s ton zi lek to mi jom i na sta je on da ka- da sti lo hi o id ni apa rat pri ti sku je ka ro tid ne seg- men te i pe ri va sku lar na sim pa tiè ka vlak na ... See full document

... The differential diagnosis is wide and includes cervical disc lesions, osteophytes, Pancoast tumor, nerve sheath tumor, ulnar and median nerve en- trapment, brachial plexitis, spinal cord tumor, shoulder’s diseases, ... See full document

... Werner’s syndrome (WS) is an extremely rare and au- tosomal recessive premature aging syndrome charac- terized by scleroderma-like skin changes, alopecia, leg ulcers, short stature, cataract, early ... See full document

... Alport Syndrome is a hereditary disease that is caused by a gene mutation and affects the production of collagen in basement membranes; this condition causes hemorrhagic nephritis associated with deafness ... See full document