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We studied the abnormal ocular and systemic findings in one case of true triploidy and two cases of triploid mosaicism. A liveborn triploid child 69,XXY, had abnormalities including cebocephaly, a single midline nostril, incomplete cleft palate, transverse palmar creases, partial syndactyly, and ambiguous genitalia. Ocular abnormalities included hypotelorism, blepharophimosis, microcornia, iris coloboma, cataract, persistent hyaloid vasculature, retinal dysplasia, and optic atrophy. A 16-year-old girl with triploid mosaicism had congenital left facial and body hemiatrophy, both growth and mental retardation, left-sided grand mal seizures, incontinentia pigmenti of both legs, partial syndactyly, and generalized weakness. Results of her ocular examination were within normal limits. A 13-year-old boy with triploid mosaicism exhibited both growth and mental retardation, truncal obesity, and required a brace to support his back. Ocular findings included synophrys, bilateral blepharoptosis, and abnormal results of Schirmer tear test. Studies indicate a wide spectrum of ocular and systemic abnormalities occur that are presumably associated with the chromosome error.
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PMID:Ocular findings in triploidy. 41 37

Forty-five patients receiving renal allografts were gradually converted from daily to alternate-day prednisone therapy. Indications for conversion included aseptic necrosis, growth retardation in children and adolescents, obesity, diabetes, cataract formation, and cosmetic appearance. Eight of the 45 patients developed acute or chronic rejection during or just after completion of alternate-day steroid therapy. The remaining 37 patients had a notable decrease in the degree of hypercorticism, with return of growth in children and adolescents. However, there was no improvement once aseptic necrosis or cataract formation had occurred. Although the use of alternate-day prednisone therapy is of benefit in reducing the untoward side effects of corticosteroids, the risk of precipitating allograft rejection is a significant threat and must be carefully considered whenever this form of treatment is undertaken.
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PMID:Alternate-day prednisone therapy in recipients of renal allografts. Risk and benefits. 78 1

Nutrition has always been a subject of great interest to athletes. In recent years use of exercise has, however, expanded from competitive sports to prevention/management of chronic diseases and maintenance of optimal health. Exercise is recommended in the prevention/management of noninsulin-dependent diabetes, hypertension, coronary heart disease, osteoporosis, obesity, mental health, colon cancer, stroke and back injury. Similarly, there is evidence that certain nutrients (e.g., vitamins C and E, beta-carotene and calcium) may reduce the risk of certain cancers, coronary heart disease, osteoporosis, hypertension and cataract. Thus, there seems to be concordance between the health benefits of exercise and certain nutrients. However, several human and animal studies suggest that strenuous exercise may promote free radical production, leading to lipid peroxidation and tissue damage. On the other hand, there is evidence that vitamins C and E and beta-carotene may protect against such damage. Thus, concordance between the health benefits of exercise and nutrition and a compensatory role of antioxidant nutrients against the potentially harmful effects of exercise suggests that nutrition and exercise should form important components of any regimen for prevention of chronic diseases and/or promotion of optimal health.
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PMID:A current perspective on nutrition and exercise. 154 45

Age-related cataract is a condition characterized by multiple mechanisms and multiple risk factors. The mechanisms that bring about a loss in transparency include oxidation, osmotic stress, and chemical adduct formation. Risk factors for cataract include diabetes, radiation (ultraviolet B, x-ray), certain pharmaceutical substances, certain nutritional states, and possibly acute episodes of dehydration. Interaction occurs between and among mechanistic factors and risk factors. Thus nutrition must be considered as one part of a tapestry of intertwined events and responses. Certain experimental models for nutritional cataract have been useful for study of the cataractogenic process but are probably not important factors in the human disease. Little current evidence supports significant roles in human senile cataract for imbalances of tryptophan or other amino acids, deficiencies of calcium or selenium, or excessive intake of selenium. Overconsumption of galactose is likely to be hazardous only in subjects with genetic inability to metabolize this sugar. Vitamins with antioxidant potential (riboflavin, vitamin E, vitamin C, carotenoids) deserve further research scrutiny to ascertain their significance in cataract etiology. Excessive caloric intake needs to receive added emphasis as a factor contributing to cataract. Diabetes increases the likelihood of cataract three- to four-fold. Obesity, defined as more than 20% overweight, is considered a major risk factor for non-insulin-dependent, or type II, diabetes (69, 73). Weight control can be recommended as a prudent, safe, economic, and effective means of lowering risk probability for diabetes and the associated complication of cataract.
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PMID:Nutritional factors in cataract. 220 Apr 64

448 Sudanese diabetics were included in this study. 30% of patients were in the age group 40-50 years and only 6.3% had childhood diabetes. The predominant sex was female (64.5%). Obesity was found in 39% of patients, a positive family history in 66.5% and a history of diabetic ketoacidosis in 25.2%. 100 patients (below the age of 40) had a plain X-ray abdomen done but none had evidence of pancreatic calcification. Percentages of diabetic complications in this study were as follows: neuropathy 28.1%, retinopathy 18.5%, cataract 14.7%, hypertension 12.9%, nephropathy 11.6%, peripheral vascular disease 6.2%, coronary heart disease 4.2% and pulmonary tuberculosis 2.7%. The majority of our patients were uncontrolled, only 16.7% had normoglycaemia (FBG less than 140 mg%).
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PMID:Pattern of diabetes mellitus in the Sudan. 263 51

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

This study was designed to compare the prevalence of obesity, high blood pressure, diabetic vascular disease, and risk factors in Black West Indians who had emigrated to Britain (WIB) with those in Whites in England and among diabetic Jamaicans in Jamaica. Seventy-seven consecutive WIB patients were matched for age, sex, known duration of diabetes, and type of treatment of diabetes with 74 Whites from the same diabetes clinic in England. In Jamaica, a systematic random sample (95 women, 36 men) was studied. There was no difference in age at diagnosis between WIBs and Jamaicans. Effort chest pain (possible angina) was less frequent in WIBs (9%) or Jamaicans (3%) than in Whites (25%). Cigarette smoking was more common in WIBs than in Whites but still low in Jamaicans. Body mass index was greatest in WIB women (85%), significantly more than in matched White (52%) or Jamaican women (45%); 40% of White men and WIB men were obese, significantly more than Jamaicans (15% obese). Systolic blood pressure was similar, but diastolic blood pressure was significantly greater in WIBs than in matched White subjects. The prevalence of casual hypertension was high (greater than 40%) in all groups, often despite treatment. Cataracts were significantly more frequent in WIB and Jamaican groups than in Whites. Total background retinopathy after correcting for duration of diabetes did not differ between groups, and there were no significant differences in other complication rates. Levels of HbA1 were lower in Whites than in the other groups. Regression analysis showed that systolic blood pressure was most consistently related to complications, particularly retinopathy, independent of ethnic group and duration.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Black West Indian and matched white diabetics in Britain compared with diabetics in Jamaica: body mass, blood pressure, and vascular disease. 358 77

To determine the possible role of glucose and lipid metabolism in the formation of cataract in elderly people we studied 463 patients undergoing cataract extraction. Of 188 males, 35 (19%) had posterior subcapsular cataract (group 1), 27 (14%) had cortical cataract (group 2), and 24 (13%) had nuclear cataract (group 3). Of 275 females, 27 (10%) belonged to group 1, 44 (16%) to group 2, and 33 (12%) to group 3. Patients in group 1 were significantly younger than those of group 2 and 3. In addition, patients in group 1 had higher concentrations of fasting serum triglycerides than patients of group 2 or 3. No difference in mean concentrations of serum cholesterol was observed between the different groups. However, fasting plasma glucose concentrations were higher in group 1 patients than in those of group 2 or 3. Patients in group 1 had a higher 'Broca index' than those in group 2 or 3, with the exception of males in group 3. These results suggest that the association of hypertriglyceridemia, hyperglycemia and obesity favors the formation of a specific morphologic type of lens opacity, posterior subcapsular cataract, occurring at an early age. They imply the possibility of effective modes of preventive therapy for a subgroup of patients with 'senile' cataract.
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PMID:Identification of metabolic risk factors for posterior subcapsular cataract. 373 11

Medical-genetic investigations were carried out in isolated population of Nokhurlis inhabiting some villages of Ashkhabad and Krasnovodsk provinces. A high coefficient of inbreeding, high endogamy, and low coefficients of migration were found for this population. Two hereditary disorders are relatively frequent among the Nokhurlis and lacking in neighboring populations. The frequency of the autosomal dominant gene for congenital cataract is 0.26% and that of the autosomal recessive gene for a peculiar form of obesity is 2.47%. In both cases, the main factor affecting gene accumulation appears to be the result of genetical drift effect. The total load of hereditary diseases of higher in Nokhurlis than in other Turkmen populations. The connection between the population structure of Nokhurlis and the accumulation of hereditary disorders is discussed.
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PMID:[Medical genetic study of the population of Turkmenia. III. Hereditary pathology in Turkmen Nokhurlis]. 622 59

The overall prevalences of microvascular complications and their association with dietary, clinical, and metabolic characteristics have been studied in 503 Mexican type II diabetic subjects. Average daily dietary intakes were 1866 kcal, 46.5% as carbohydrate, 13.7 mmol cholesterol, 8.7 g fiber, and a polyunsaturated/saturated fat ratio of 0.98. Prevalence rates of microvascular and metabolic complications were as follows: background retinopathy 12.3%, exudative retinopathy 24.2%, proliferative retinopathy 8.1% (1% blind, 4% able to read large print only), 9.1% of patients had cataract, 15.9% nephropathy, and 40.8% peripheral neuropathy. In addition, 3.6% had experienced transient lower motor neuron facial paralysis and 0.2% oculomotor paralysis. Patients with retinopathy had a longer mean duration of diabetes, were less obese at the time of examination, and had higher initial and mean blood pressures and higher mean fasting blood glucose levels when compared with those without retinopathy. Similar differences were observed between groups with and without nephropathy except that mean blood glucose levels were similar in the two groups. The presence of peripheral neuropathy was associated with longer duration of diabetes, less obesity, higher mean blood pressure and mean blood glucose levels, and lower hemoglobin concentration. Patients treated with diet alone had significantly lower prevalences of all three microvascular complications but they also had significantly shorter duration of diabetes and lower mean blood glucose levels. However, multivariate analyses on the subgroup of 360 patients who had repeated fasting blood glucose measurements for at least 5 yr demonstrated associations between retinopathy and duration of diabetes, mean blood pressure and mean blood glucose, and percent calories from carbohydrate.(ABSTRACT TRUNCATED AT 250 WORDS)
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PMID:Association of differing dietary, metabolic, and clinical risk factors with microvascular complications of diabetes: a prevalence study of 503 Mexican type II diabetic subjects. II. 649 36


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