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

Total body irradiation (TBI) and busulfan were compared for late effects in a murine model of bone marrow transplantation (BMT). Male C57BL/6 mice were given fractionated TBI or busulfan given in 4 equal daily doses followed by infusion of 10(7) syngeneic bone marrow cells. Total doses of 16.4 Gy TBI and 3.4 mg busulfan were chosen for their equivalence in inducing near complete engraftment of allogeneic marrow from donor mice of the LP strain. The two treatment groups had a late wave of mortality starting at about 80 weeks after transplantation. Specific tissue damage was manifested in bone marrow stem cells, splenic T-cell precursors, hair greying and cataract formation for both TBI and busulfan but to varying degrees. Severe nephrotoxicity and anemia were observed only after TBI. Although both busulfan and TBI kill early marrow stem cells and are effective preparative agents in bone marrow transplantation, their effects on other stem cell and organ systems are not similar. In addition, many of the injuries seen are late to occur. The delayed expression of injury deserves careful long-term evaluation of BMT recipients before the therapeutic potential of effective preparative regimens can be fully appreciated.
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PMID:Late tissue-specific toxicity of total body irradiation and busulfan in a murine bone marrow transplant model. 266 95

A total of 126 children with chronic idiopathic thrombocytopenic purpura, including 35 splenectomized cases, were investigated in a long-term follow-up study, with regard to residual hematologic and immunologic abnormalities, complications and physical growth. Such hemorrhagic symptoms as petechiae, ecchymosis and epistaxis were still observed in about 22%-28% of the patients with a period of morbidity ranging from 3 to 15 years after onset. Residual thrombocytopenia below 150,000/microliters was found in 62% of patients within 5 years, 59% within 5 to 9 years and 57% within 10-14 years after onset. Other abnormalities were mild anemia, low serum level of IgA or IgM, positive antinuclear antibody, rheumatoid factor, and positive Coombs test in a small number of patients. Increased platelet-associated IgG was still obtained in patients with subnormal platelet counts whose morbid periods were 6 to 27 years after onset. Investigation of the patients by questionnaire revealed such complications as obesity, striae atrophicae, abdominal pain, headache, cataract, Perthes' disease, and cardiac complication in some patients. No apparent disturbances except for obesity were observed in their physical growth.
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PMID:Long-term follow-up study of children with chronic ITP. 275 63

A case of slight renal tubular dysfunction associated with cataract and anaemia was diagnosed in a 3-month-old black boy in whom high levels of mercury were found in blood and urine. Several arguments suggest that the renal, ocular and haematological defects may have resulted from exposure to mercury during foetal life and the 1-month lactation period due to the extensive use of inorganic mercury containing cosmetics by the mother.
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PMID:Prenatal and early postnatal intoxication by inorganic mercury resulting from the maternal use of mercury containing soap. 359 13

The population aged 85 years or over (n = 674) living in Tampere, Finland was surveyed in 1977-78. Altogether 561 persons (83%), 99 men and 462 women, were examined. A re-examination of 170 persons, 23 men and 147 women, was carried out in 1982 by the same procedure as in 1977-78, The results were compared with those of the same people and with those of over-90s five years before. Of the group followed, in the initial survey 65% were living at home and 25% in old people's homes, 10% being hospitalized. The percentage of hospital in-patients had increased threefold during the five-year follow-up. The functional capacity of the subjects had deteriorated as regards mental function and ability to walk. The mean values of blood samples (apart from ESR) were still in normal ranges, although the levels of haemoglobin and haematocrit had fallen significantly. Dementia or confusion, anaemia, femoral-neck fracture and cataract were significantly increased.
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PMID:Living conditions and health of a population aged 85 years or over: a five-year follow-up study. 403 27

Black-insulin-dependent diabetics under the age of 30 years attending a busy South African diabetic clinic were intensively screened for a 4-month period. In the 66 patients studied, the following previously undiagnosed conditions were discovered: cataract (1), peripheral neuropathy (16), retinopathy (8), tuberculosis (4) and anaemia (3). In addition, 29 (43,9%) were on insulin regimens that were not ideal. Attempts were made to improve glycaemic control, especially in those patients with complications, and defective insulin regimens were corrected. The screening programme was carried out with normal manpower and investigative facilities, and the extra time involved was not excessive. This programme could be used (in either an expanded or a limited form) in any diabetic clinic, and would probably considerably improve the health of young insulin-dependent diabetic patients.
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PMID:Intensive health screening of young black diabetics. 661 Feb 21

Recently, we described a new genetic disorder (the "hereditary hyperferritinemia-cataract syndrome") clinically characterized by the combination of elevated serum ferritin and congenital bilateral nuclear cataract, both cotransmitted as an autosomal dominant trait. In affected subjects, hyperferritinemia (ranging from 950 to 2,259 micrograms/L) is typically not related to iron overload. Differently from subjects with hereditary hemochromatosis, they have normal to low levels of serum iron and percent of transferrin saturation and absence of iron overload in parenchymal organs. When unnecessary phlebotomies are performed, they rapidly develop iron-deficient anemia, with persistently elevated levels of serum ferritin. By RNA-single-strand conformation polymorphism screening of the L-subunit ferritin gene on chromosome 19, we were able to identify in affected subjects a mutation in the 5' untranslated region. This mutation involves the five nucleotides sequence [CAGUG] of the iron-responsive element (IRE), which is critical for the posttranscriptional regulation of ferritin synthesis by means of IRE-binding protein (IRE-BP). Thus, it is very likely to provide the molecular basis for the iron-insensitive upregulation of ferritin synthesis in affected subjects.
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PMID:Molecular basis for the recently described hereditary hyperferritinemia-cataract syndrome: a mutation in the iron-responsive element of ferritin L-subunit gene (the "Verona mutation") 878 50

In summary, hematologic abnormalities in diabetes affect the function, morphology, and metabolism of blood cells, and the coagulation system. These complications can contribute to the development of anemia, infection, and hypercoagulability in diabetic dogs and cats. Some hematologic changes, such as glycosylated hemoglobin and fructosamine, play an important role as markers of glycemic control. Hematologic changes also serve as important models for changes occurring in other tissues, such as cataract formation and nephropathy. Further study of blood alterations will enhance our knowledge of the biochemistry and pathophysiology of diabetes and diabetic complications and stimulate the development of effective preventative and therapeutic measures.
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PMID:Hematologic complications of diabetes mellitus. 766 May 37

The only genetic disorder with elevated serum ferritin levels so far described is hereditary HLA-related haemochromatosis. On the other hand, hereditary cataract is both genotypically as well as phenotypically heterogenous, and no specific locus or any useful marker has been yet identified. We studied two Italian families in whom a combination of elevated serum ferritin not related to iron overload and congenital nuclear cataract is transmitted as an autosomal dominant trait. Affected individuals have normal serum iron and transferrin saturation, but high serum ferritin. Red cell counts are normal and venesection therapy rapidly produces iron-deficiency anaemia. This genetic disorder, which is characterized by hyperferritinaemia, differs from hereditary HLA-related haemochromatosis mostly for the absence of iron overload. A gene responsible for the congenital nuclear cataract likely maps on chromosome 19q close to the ferritin L-subunit gene. Within families with autosomal dominant congenital cataract, serum ferritin might be an early marker of disease.
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PMID:A linkage between hereditary hyperferritinaemia not related to iron overload and autosomal dominant congenital cataract. 766 75

An 81-year-old man with a history of chronic pulmonary disease due to heavy smoking and ischemic heart disease had been suffering for the past few years from chronic constipation and urinary incontinence and was receiving medication for cardiopulmonary symptoms and urinary incontinence. He was admitted for repeated falling for a few months prior to admission. When put in the supine position, his blood pressure fell. He had bilateral pulmonary rales, consistent with lung disease, eccentricity of the left pupil (after cataract surgery), constriction of the right pupil, and absence of the pupillary light reflex. There was generalized hyperreflexia and a bilateral Babinski sign. He had normocytic, normochromic anemia; B12, folic acid and ferritin were within normal ranges, ESR was rapid, there was hyperglobulinemia (IgA and IgG), urea nitrogen and creatinine were increased but returned to normal after rehydration. ECG and chest X-ray were consistent with his cardiopulmonary status. Bone-marrow biopsy showed hypocellularity. IVP and barium enema were normal. Echocardiography revealed a possible old posterior wall myocardial infarction. CT-scan showed moderate cerebral and cerebellar atrophy, calcifications in the carotid and vertebral arteries, and small infarcts in both hemispheres. At this point, after an extensive survey of the literature, the diagnosis of Shy-Drager syndrome was proposed and proved by monitoring ECG and serum levels of noradrenaline during postural changes. He was treated with Fluorinef and there were no more episodes of postural hypotension. Several weeks after discharge he reported that he was feeling well and had not fallen since discharge.
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PMID:[Shy-Drager syndrome]. 775 2


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