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Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A case is reported with a syndrome characterized by mental retardation, choreoathetosis, high levels of uric acid and aggressive, selfmutilation behavior, diagnosed as Lesch-Nyhan's syndrome. The most important features are, its appearance confined only to males, the absence of abnormalities along the prenatal and newborn periods, as well as the progressive impairment in the clinical course of the patient. The presence of high blood levels of uric acid which was controlled with the administration of allopurinol, the anemia, treated with ferrous sulfate and the complete absence of the AGPRT enzyme, were the laboratory findings. The clinical, pathophysiological and biochemical aspects of the treatment were also reviewed, as well as the experiences and findings reported in other series. The authors stress the very low frequency of these cases, the importance of making the diagnosis and the exceptional and eccentricity of the features which are part of the syndrome, such as the bites.
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PMID:[Lesch-Nyhan syndrome. Report of a case]. 87 31

Reasons for the high adolescent birthrate in the U.S., medical, psychological, and social repercussions of teenage pregnancy, and facts and myths about sex education and contraception for young people are discussed. About 30% of U.S. women under 20 become pregnant outside marriage, and many more are pregnant when they marry. The reasons for the high pregnancy rates in young people include recent early menarch, which accounts for 94% fertility in 17.5-year-olds, better health, and ignorance about contraception and basic facts about reproduction. Pregnant adolescents risk toxemia, anemia, puerperal morbidity, prematurity, neonatal mortality, and congenital defects such as mental retardation in the baby. They face family alienation, loss of educational and employment opportunities, forced marriage, and high suicide rates in addition to the trials of puberty. Many girls believe that their fertile period is during menses, that pills are dangerous, that they are not fertile. Studies have shown that sex education can lower repeat pregnancies 67%. Recent research has negated the belief that many young women desire pregnancy unconsciously. Current information shows that supplying contraception will not encourage young people to begin having intercourse. Most sex education courses in the U.S. are given after the average teenagers become active sexually. It is believed that contraception should be provided universally for young people, and that parental authorization of contraception would probably mend family ties, certainly better than would unwanted pregnancy.
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PMID:[Social and psychological aspects of contraception in adolescents]. 98 31

Hunger and malnutrition in Africa have been on the increase since the 1960s. During the 1970s, it is estimated that 30 million people were directly affected by famine and malnutrition. About 5 million children died in 1984 alone. In Mozambique during the 1983-84 famine, about 100,000 people perished. In Ethiopia, Sudan, Somalia, Liberia, and Angola armed conflicts compound the problem. Ethiopia alone had 9 million famine victims in 1983. The most common form of malnutrition in Africa is protein energy deficiency affecting over 100 million people, especially 30-50 million children under 5 years of age. Almost another 200 million are at risk. Iron deficiency, commonly called anemia, also affects 150 million people, mostly women and children. Iodine deficiency leads to disorders like mental retardation, cretinism, deafness, abortion, low resistance to disease, and goiter and this affects 60 million with about 150 million more at risk. Vitamin A deficiency causes blindness and low resistance to disease and affects about 10 million. Protein energy deficiency is treated by using donated foods in hospitals, rehabilitation centers, day care centers, and feeding centers. There are no community programs for anemia, or vitamin A or iodine deficiencies. Vaccines for preventing and drugs for treating diseases that cause malnutrition are imported. Therefore, African food and nutrition professionals met in 1988 and created the Africa Council for Food and Nutrition Sciences (AFRONUS) to eliminate famine and malnutrition in Africa. Activities have started in: 1) developing contacts between the workers in food and nutrition; 2) assessing the situation of food and nutrition in Africa; 3) developing an action plan; 4) implementing the plan; and 5) monitoring progress. Food and Nutrition Policy Guidelines have also been prepared by AFRONUS for food and nutrition workers. Africa has enough natural resources to solve the problem of hunger and malnutrition, but these resources have to be harnessed.
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PMID:Hunger and malnutrition: the determinant of development: the case for Africa and its food and nutrition workers. 139 7

The N syndrome is characterized by mental retardation, malformations, chromosome breakage, and development of T-cell leukemia (Opitz et al.: Proceedings of the II International Congress IASSMD pp 115-119, 1971; Hess et al.: Clinical Genetics 6:237-246, 1974b, American Journal of Medical Genetics [supplement] 3:383-388, 1987). N syndrome fibroblasts were studied to see if the high chromosome breakage rate associated with this apparently X-linked syndrome could be related to a deficiency of DNA polymerase alpha, a product of a gene localized to the X chromosome. Bleomycin, which is known to break double-stranded DNA, produced increased chromosome breakage in normal control, Fanconi anemia, and N syndrome fibroblasts. When aphidicolin was used to inhibit repair mediated by DNA polymerase alpha, both normal control and Fanconi anemia fibroblasts showed significantly more chromosome breakage than was produced by bleomycin alone, but there was no increase in the amount of breakage seen in the N syndrome fibroblasts over that seen with bleomycin alone. This suggests that the N syndrome is due to a mutation affecting the region of the X chromosome on which the gene for DNA polymerase alpha is located, and that the high risk of T-cell leukemia observed in the hemizygote is due to this DNA repair defect.
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PMID:DNA polymerase alpha defect in the N syndrome. 168 58

Carbonic anhydrase II (CA II) deficiency in man is an autosomal recessive disorder manifest by osteopetrosis, renal tubular acidosis, and cerebral calcification. Other features include growth failure and mental retardation. Complications of the osteopetrosis include frequent bone fractures, cranial nerve compression symptoms, and dental malocclusion. The anemia and leukopenia seen in the recessive, lethal infantile form of osteopetrosis are not seen in CA II deficient patients. The renal tubular acidosis usually includes both proximal and distal components. Symptoms of metabolic acidosis respond to therapy, but no specific treatment is available for the osteopetrosis or cerebral calcification. We review here the role of carbonic anhydrases in bone resorption and renal acidification, and discuss clinical features and laboratory findings which distinguish CA II deficiency from other disorders producing osteopetrosis, renal tubular acidosis, or brain calcification. Methods to evaluate patients with pure proximal renal tubular acidosis for deficiency of CA IV are also discussed.
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PMID:Evaluation of carbonic anhydrase isozymes in disorders involving osteopetrosis and/or renal tubular acidosis. 195 22

Four patients with severe cerebral palsy, mental retardation, and seizures who were treated with valproic acid showed a broad spectrum of hematologic toxicity, which included thrombocytopenia, macrocytic red cells with or without anemia, and the Pelger-Huet anomaly in the segmented neutrophils, along with elevated vitamin B12 levels, normal serum folic acid levels, and elevated fetal hemoglobin values (two cases). Bone marrow findings in all four patients were abnormal, suggestive of a myelodysplastic syndrome. These hematologic findings have not been previously reported and are important for monitoring a patient on valproic acid therapy. The Pelger-Huet anomaly may be mistaken for an elevated band count, the macrocytic anemia appears not to be secondary to a vitamin B12 or folate deficiency, and the thrombocytopenia may be sensitive to drug dosage. The bone marrow changes appear to be a drug-related myelodysplastic phenomenon.
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PMID:Severe hematologic toxicity of valproic acid. A report of four patients. 210 2

There are differences between young and adult organisms regarding toxokinetic aspects and clinical manifestations of heavy metal intoxications. Chronically, toxic Cd intake causes a microcytotic hypochromic anemia in young rats at lower exposure levels and after shorter exposure periods than in adult animals. Cd absorption is increased by co-administration of milk and in conjunction with iron deficiency. After long exposure periods toxic Cd concentrations accumulate in the kidney cortex; this process starts very early in life. In 3-year-old children Cd concentrations in the kidney can reach up to one-third of those found in adults. Hg++ and methyl-Hg can cause Hg encephalopathia, and frequently cause mental retardation in adults. Correspondingly, Hg++ accumulation in the brains of suckling rats is approx. 10 times higher than in grown animals. Milk increases the bioavailability of Hg++. In suckling rats Hg is bound to a greater extent to ligands in the erythrocytes. Methyl-Hg concentrations in breast milk reach 5% of those in maternal plasma and that is a severe hazard for breastfed children of exposed mothers. Toxic Pb concentrations can lead to Pb encephalopathia. A high percentage of surviving children have seizures and show signs of mental retardation. Anemia and reduced intelligence scores were recently observed in children after exposure to very low levels of Pb. Pb absorption is increased in children and after co-administration of milk. There are no definite proofs for carcinogenesis or mutagenesis after oral exposure to Cd, Hg, and Pb in man. Heavy metal concentrations were found in the same order of magnitude in commercial infant formulas and in breast milk. When infant formulas are reconstituted with contaminated tap water, however, Pb and Cd concentrations can be much higher. The average heavy metal uptake from such diets exceeds the provisional tolerable weekly intake levels set by the WHO for adults, calculated on the basis of an average food intake and a downscaled body weight. These considerations do not even provide for differences in absorption and distribution or for the increased sensitivity of children to heavy metal exposure. However, dilution effects for essential heavy metals were observed in fast-growing young children; this effect might be extrapolated to toxic metals. These theoretical considerations are compared with epidemiological evidence. A health statistic from Baltimore shows a decline of Pb intoxications in infants. This observation correlates with a simultaneous decline in exposure to Pb which was due, for example, to decreased use of lead dyes in house paints and the abolition of tin cans for infant food.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[The toxicological estimation of the heavy metal content (Cd, Hg, Pb) in food for infants and small children]. 218

A 19-year-old girl is described with microcephaly, short stature, mental retardation, pigmentation of the skin, and recurrent skin abscesses over the whole body. Her elder brother and sister both showed growth and developmental retardation, microcephaly, and anemia. Both died during childhood. Their parents were first cousins. Laboratory studies of the proband revealed hyperchromic erythrocytes with an increased HbF content, thrombocytopenia, an impaired mitogenic response of the PHA-stimulated lymphocytes, and partial impairment of humoral and cellular immunity. She developed pancytopenia in the terminal stage of the disease. Cytogenetic studies of the bone marrow revealed 46,XX, 15p+, -18, +mar karyotype, increased chromosomal aberrations and sister chromatid exchanges, in cultured lymphocytes and skin fibroblasts. She died at age 20. Thus, the disorder in the patient was deduced as an unclassified chromosomal breakage syndrome with an apparently autosomal recessive inheritance.
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PMID:A disease with immune deficiency, skin abscesses, pancytopenia, abnormal bone marrow karyotype, and increased sister chromatid exchanges: an autosomal recessive chromosome instability syndrome? 226 3

This overview of health programs and conditions in India reveals that health is related to economic development antipoverty measures, food production and distribution, drinking water supply, sanitation, housing, environmental protection, and education. There are urgent requirements for effective intersectorial coordination. Unprecedented growth of 1 million a year has resulted in slums and shanties--a place of epidemics; urbanization has contributed to environmental pollution impacting on health, and water pollution to water-born diseases. Health services are still insufficient to meet the needs. Sanitation practices contribute to cholera, dysentery, diarrhea, enteric fevers, and malaria. Indian Systems of Medicine and Homeopathy must be active in preventive and health care. Accomplishments include in 1987/8 a decline in leprosy cases attributed to the existence of leprosy control units. 40 AIDS Surveillance Units are actively treating and screening. The Naval Goitre Control Programme's goal is replacement of iodized salt for edible salt by 1992, thereby reducing mental retardation and low birth weight babies. The Family Welfare Programme, targets a New Production Rate of Unity before 2000. A National Technology Mission on immunization and the Universal Immunization Programme plans to be operational in all districts by 1990. Oral rehydration therapy programs dispense free packets to fill the needs of 1 million children under 5 who suffer from diarrhea 3 times a year with 3 million facing death. The Primary Health Care Programme provides iron and folic acid to women with nutritional anemia and Vitamin A to children. Health service developments have been increased.
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PMID:Status of health in India and its future prospects. 226 69

A systematic investigation of morbidity patterns was conducted in 1977- 80 among 2580 children under 12 years of age attending mobile hospital camps in 4 districts on India's Hamachal Pradesh. The children came from remote villages where socioeconomic and educational levels were low and environmental sanitation was rudimentary. There were 1301 cases of protein energy malnutrition in this group, 124 involving children 0-1 year of age, 514 in the 1-5-year age group, and 663 (51%) in the 5-12- year age group. At the time of examination, 287 of the children were infested with worms and 125 had diarrhea. These 3 conditions-- malnutrition, worm infestation, and diarrhea--were present in 32% of the village children surveyed. The most common form of morbidity was nutritional disorders (malnutrition, anemia, and vitamin deficiencies), affecting 70% of the children. The next most common condition was respiratory infection, affecting 35%. Other disorders affecting significant numbers of children were scabies, pyoderma, convulsions, mental retardation, rheumatic fever and congenital heart diseases, and renal diseases. Morbidity from conditions such as gastroenteritis, measles, and pneumonia was often accompanied by malnutrition. Thus, there is a need in this area for child health programs aimed at providing nutrition education as well as improving immunization coverage.
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PMID:Childhood morbidity in mobile hospital camps in Himachal Pradesh. 262 Sep 84


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