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)

Clinical and biochemical diagnostic studies concerned 17 cases of galactosemia coming from 15 not consauguineous families. Galactosemia was diagnosed between 1-st day and 11-th month of life. Tentative diagnosis based on clinical picture was made in 12 infants, others were detected through family history of galactosemia and/or biochemical newborn screening carried out at the National Research Institute of Mother and Child since 1969. Clinical symptoms of galactosemia occurred in most patients in the first week of life. They were the following (tab. II): hepatomegaly (in 94%), jaundice (81%), splenomegaly (79%), vomitus (62%) and diarrhoea in 56% of patients. Cataract was found in 6 infants (38%). Biochemical diagnosis was based on the results of enzymatic estimation of galactose-1-phosphate uridyl transferase activity in blood, galactose-1-phosphate in red blood cells and galactose in blood and urine. No activity of galactose-1-phosphate uridyl transferase was found in all patients, and the concentration of galactose-1-phosphate was higher than 25 mg/100 ml of red blood cells. High galactose level was observed in blood and urine in all patients with typical clinical course of galactosemia. In 2 patients however without clinical symptoms of the disease only trace amounts of galactose was detected in blood and urine. All these patients were treated with galactose free diet.
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PMID:[Clinical and biochemical diagnosis of galactosemia among our cases]. 26 27

A case-control study was carried out in the state of Tamil Nadu, southern India, to examine the association between the risk of visually disabling cataract and a lifetime history of severe diarrhea (including cholera). A series of 421 subjects, aged 35 to 65 years, meeting case (n = 181) and control (n = 240) eligibility criteria were enrolled from 19 rural cataract-screening camps. Ninety case-control pairs were postmatched for (reported) age (+/- 2 years), sex, and area of residence. A history of diarrhea was obtained by using an algorithm developed by other investigators in India who have reported a strong association between cataract and diarrhea. An odds ratio of 0.8 (95% confidence limits: 0.0, 3.2) was obtained from matched pairs analysis, and an odds ratio of 1.3 (95% confidence limit: 0.6, 2.7) was obtained among all subjects (n = 392) from a logistic analysis that adjusted for age, sex, occupation, area of residence, and caste. Findings of this study do not support the hypothesis of an increased risk of visually disabling cataract in persons with a positive history of severe diarrhea.
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PMID:Risk of cataract and history of severe diarrheal disease in southern India. 158 Aug 27

The acute reaction in the course of a total body irradiation (TBI) appears in an organ-specific damage of the stem cells. Moreover, there are unspecified central-nervous stress reactions. Clinical reactions are obtained by the study and symptomatic therapy is proposed. 90 patients with different forms of leukaemia were observed. We documented the course in a specific "protocol system". Reactions like an increase of body temperature, changes of pulse and blood pressure were registered. The occurrence of gastro-intestinal reactions is a typical symptom of the acute radiation syndrome e.g. vomiting and diarrhoea are demonstrated in dependence of the applicated dose of irradiation. Further symptoms of TBI appeared in the later period. Mucositis, parotitis, a decreased function of the salivary glands and diarrhoea as well as vomiting are characterized by different intensity and temporary termination. A difference between allogeneic and autologous transplantation is caused by a medicamental additional treatment. During the late period these symptoms will disappear completely. Moreover, after TBI and BMT late effects are a cataract and some changes in the hormonal system demanding a specific correction or substitution respectively.
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PMID:Acute and late effects in the course of and after total body irradiation with following bone marrow transplantation in patients with different forms of leukaemia. 248 Feb 95

423 cataract patients and 608 controls between the ages of 50 and 79 were interviewed in a case-control study in Oxfordshire. Diabetes, myopia, glaucoma, peripheral neuropathy and severe diarrhoea were identified as risk factors. The excess risk experienced by females with diabetes was confirmed. The trauma of surgery for glaucoma may be largely responsible for the appearance of glaucoma as a risk factor. Severe diarrhoea has now been identified as a risk factor in England and in India. The risk associated with peripheral neuropathy may indicate a common aetiology at least for some proportions of the two conditions.
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PMID:Risk factors for cataract in Oxfordshire: diabetes, peripheral neuropathy, myopia, glaucoma and diarrhoea. 255 2

One possible route to cataract formation may be via the carbamoylation of lens proteins due to increased concentrations of cyanate in the body resulting from uraemia associated with renal failure and with severe diarrhoea. Carbamoylation of gamma-II-crystallin, which is found in the lens core, could alter the surface charge network of the molecules, resulting in aggregation, increased light-scattering and hence cataract. We have attempted to locate the site(s) of carbamoylation in gamma-II-crystallin. gamma-II-Crystallin was isolated by gel chromatography and ion-exchange chromatography. gamma-II-Crystallin was then carbamoylated by incubation with potassium [14C]cyanate, followed by citraconylation and digestion with trypsin to give peptides that were separated by high-resolution ion-exchange chromatography. The amino acid compositions of the radioactive peptides were compared with the expected peptide composition for gamma-II-crystallin. The radioactive peptide compositions, which agreed with the theoretical peptides, all matched with the N-terminal region of gamma-II-crystallin and had in common the presence of the N-terminal glycine residue. It appears that the alpha-amino group of the N-terminal glycine was the main site of carbamoylation. This site forms part of the charge network on the surface of gamma-II-crystallin.
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PMID:Site of carbamoylation of bovine gamma-II-crystallin by potassium [14C]cyanate. 259 Jan 75

Although short courses of 4-quinolones are effective in routine infections, longer courses are necessary for chronic, deep-seated sepsis. Oral 4-quinolones exhibit efficacy equal to that of traditional parenteral regimens against osteomyelitis caused by gram-negative pathogens and have proved successful against chronic prostatitis and suppurative otorhinologic infections. The efficacy of these agents in the prophylaxis of urinary tract infection, travelers' diarrhea, and infections in neutropenic patients suggests other indications for potential widespread, long-term use. It is therefore important that the tolerability of regimens extending from 3-6 weeks to greater than or equal to 12 months has proved excellent. Potentially serious adverse reactions (including arthritis, cataract formation, and mutagenesis) noted in chronic animal toxicity or in vitro studies have no apparent human counterparts. However, experience is limited, and restrictions on use of the quinolones in children--except where real benefit outweighs theoretical risk--should not yet be abandoned.
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PMID:Long-term use of quinolones and their safety. 267 58

Three hundred patients with cataract and 609 control subjects with the same age-sex distribution were interviewed in a study of cataract in Oxfordshire, England. The risks associated with severe diarrhoea, glaucoma, and work on a military base have been demonstrated. Population attributable risks were calculated for those and other risk factors.
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PMID:A case-control study of cataract in Oxfordshire: some risk factors. 320 54

Cataract is the major cause of blindness worldwide. It is a greater problem in third world countries than in the West and several attempts have been made to explain the excess in these countries. This paper provides an overview of the literature especially on studies designed to identify risk factors for cataract. There is an association between poverty and cataract and, more specifically, between cataract and a history of severe diarrhoea-dehydration. Recent results from a case-control-led study of cataract in Oxford are also presented with the quantitation of risks associated with a number of factors including diarrhoea, renal failure and diabetes. In this study an apparently protective effect of aspirin, paracetamol and similar drugs was observed. This protective effect applies to the risk associated with diabetes.
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PMID:Epidemiology and risk factors for cataract. 332 1

RGH-6201 (4-diethylaminoethoxy-alpha-ethyl-benzhydrol) in the first dose-range finding study on rats produced severe, irreversible ophthalmic damage. The underlying mechanism was studied in a series of experiments with daily doses of 50, 100 and 200 mg/kg in rats by gavage. Lenticular damage appeared as a moderate nuclear degeneration during Week 4 of treatment with 50 mg/kg RGH-6201. This could be detected in the isolated eye and in histological examination but not by ophthalmoscopy. Keratitis and iridocyclitis developed about the 2nd week of treatment followed by epithelial proliferation in the lens under the anterior capsule in the higher dose groups. Nuclear and total cataract developed from the 2nd week on in the 200 mg/kg group and from the 3rd week on in the 100 mg/kg group. Further gross pathological changes in the high dose group were characterized by marked hairloss, desquamation in the cardiac region of the stomach and diarrhoea. It has to be emphasized that fine lenticular changes were unrelated to keratitis and iridocyclitis. Since other benzhydrol derivatives such as 2,5-dimethyl-alpha-ethylbenzhydrol and 3-trifluoro-methyl-alpha-ethyl-benzhydrol do not induce similar changes, the diethyl-amino-ethoxy group was assumed to be the toxic part of the molecule. Intravenous studies with equimolar doses of diethyl-aminoethanol revealed no similar symptoms.
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PMID:Analysis of cataract and keratotic damage induced by 4-diethylaminoethoxy-alpha-ethyl-benzhydrol (RGH-6201) in rats. 386 78

The authors performed galactose loading tests in children suffering from chronic diseases: recurrent bronchitis vomiting, diarrhoea, milk-intolerance, somatic and mental retardation, cramps. In 32 of the 92 examined cases galactose levels rose until pathological, pseudo- diabetic levels. Stillbirth, cataract, hyperbilirubinaemia, convulsions occurred among family members of 10 patients. Galactose-1-phosphat-uridyl-transferase levels were decreased only in 4 of the 17 patients examined. In the other cases some different pathway of galactose metabolism is suspected. Complete remission of symptoms was achieved with diet devoid of milk sugar (lactose) in 29 patients: one infant died and two others remained mentally retarded. According to the examinations presented minor deviations of galactose metabolism cause clinical symptoms more frequently in early life as it was supposed until now.
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PMID:[Galactose loading test in infants and small children suffering in recurrent bronchitis and other chronic illness (author's transl)]. 611 85


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