Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0086543 (cataract)
 29,165 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The occurrence of chronic mucocutaneous candidiasis accompanying polyglandular autoimmune syndrome type I is reported in a female aged 13. Apart the candidiasis, since the age of 3, she had convulsions beginning at 6, cataract at 9, teeth abnormalities, and basal ganglia calcifications. Laboratory data confirmed the diagnosis of hypoparathyroidism. This picture was accompanied by intestinal malabsorption, leading to a state of progressive malnutrition, with intense hypoalbuminemia and anemia. Although the pathophysiology of malabsorption, in these cases, is still not clear, the therapeutic response to pancreatin, in the present case, suggested pancreatic insufficiency, reinforced by the normal d-xylose test and the small intestinal biopsy with inexpressive result.
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PMID:[Polyglandular autoimmune type I syndrome with hypoparathyroidism, chronic mucocutaneous candidiasis and intestinal malabsorption]. 213 67

A 17 year and 10 month old boy with Johanson-Blizzard syndrome is presented as a case report for the first time. Diagnosis has been established on the basis of craniofacial abnormalities: microcephalia, parietal skin and bone defects, sparse hair with frontal up sweep, alae nasi hypoplasia, irregular dentition and nasolacrimal fistula, with mental insufficiency, partial exocrine pancreatic insufficiency and low birth-weight and length, hypotonia and failure to thrive in infancy. Congenital cataract and hiatus sacralis apertus are additional signs that have never been described in the literature concerning Johanson-Blizzard syndrome.
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PMID:[The Johanson-Blizzard syndrome]. 974 88

A 6-month-old male crossbred dog weighing 0.78 kg was presented with acute bilateral immature cataracts, intermittent diarrhea and growth retardation. The clinical manifestations and laboratory findings were suggestive of concurrent juvenile diabetes mellitus (DM) and exocrine pancreatic insufficiency (EPI). Moreover, the DM was associated with a decreased level of serum insulin-like growth factor I. Histological examination revealed a markedly lower number of pancreatic islets and acinar cells. This case shows that juvenile-onset DM can occur simultaneously with EPI and result in growth retardation, acute cataract formation and a high cortisol concentration.
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PMID:Juvenile diabetes mellitus accompanied by exocrine pancreatic insufficiency in a dog. 1912 1

Cystic fibrosis (CF) is a multisystem disease characterized by chronic pulmonary infection, bronchiectasis, exocrine pancreatic insufficiency and elevated sweat chloride level. It is commonly considered as a pediatric disease. But it is now being diagnosed in increasing number of adults due to increased survival from availability of potent antibiotics, nutritional facility and diagnosis of mild cases which were unrecognized previously. CF is rarely reported from India and its adult presentation is rarer. Our case, a Hindu female from West Bengal, India was diagnosed to have CF at the age of 29 years. She had chronic cough and wheezing since childhood being treated as asthmatic patient. She had poor nutrional status, short stature and sexual infantilism. She had premature cataract. Because of chronic cough and expectoration we performed HRCT scan of thorax which revealed bilateral bronchiectasis. She had bilateral maxillary sinusitis and hypoplastic frontal sinus. Repeated sweat chloride tests revealed high values suggestive of CF. CF should be considered in differential diagnosis of adults with bronchiectasis and chronic sinusitis or child with bronchial asthma. High level of awareness is needed to diagnose CF in India, because of its rarity.
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PMID:Adult cystic fibrosis--a rare diagnosis from India. 2340 23