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

The occurrence of deaf-mutism and goiter unassocaited with creatinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It is considered due to a single mutant recessive gene responsible for both the goiter and deafness. The penetrance is high, the intenseness of expressivity may vary within the same family and only one generation is affected. The extremely atypical hyperplasia seen in such goiters has been considered malignant. In 1956 the author reported a family in which 4 of 6 sibilings demonstrated Pendred's Syndrome. Three of the 4 had undergone thyroidectomy, two were considered to have carcinoma. Nineteen years later the family is again reported. The fourth sibling has recently undergone thyroidectomy. This thyroid demonstrated the same atypical hyperplasia as seen in the elder two siblings. The 19 year followup of this family has shown no evidence of recurrence or metastases, indicating that the atypical hyperplasia is probably not malignant. Pendred's Syndrome is described and certain suggestions are made for the counseling of the parents and the treatment and counseling of those children so afflicted.
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PMID:Goiter and deaf mutism. 121 96

The syndromes of thyroid hormone resistance may affect overall or only some tissues. The generalized resistance is an inherited disease which involves a familial eumetabolic or hypometabolic goiter, increased free thyroid hormones with normal or elevated plasma TSH levels; children may present mental retardation, deafness, short stature and delayed bone age. The disease is frequently misdiagnosed. In vivo and in vitro tests may be used to assess the diagnosis. The defect of increment of sex hormone-binding globulin after administration of T3 may be useful in the demonstration of the disease. Therapy uses high T4 or T3 doses in hypometabolic patients. The generalized thyroid hormone resistance could be linked to abnormalities at the T3 receptor and c-erb A gene level, as a consequence of different point mutations or deletions involving the hormone-binding domain.
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PMID:Thyroid hormone generalized resistance. 130 19

The studies included 64 children with newly diagnosed epilepsy, aged from 6 to 15 years of life. In 25 children with partial and secondary generalized seizures monotherapy with carbamazepine was introduced; in 19 children with primary generalized seizures--with phenobarbital, and in patients with both types of seizures--with primidone. Monotherapy was controlled by means of blood serum drug concentration level monitoring; the therapy was successful in all the children. The group did not include patients with mental retardation, and epilepsy was idiopathic. Prior to the institution of treatment, a single determination of blood serum triiodothyronine, thyroxine, TSH, prolactin, cortisol, LH and testosterone was made. Psychological test were carried out employing Wechsler's scale, Bender-Santucci test, rhythmic structures developed by Mira Stambak and test of manual dexterity (card display). In order to evaluate short-term effects of the employed drugs upon the blood serum concentration values of the studied hormones, a repeated determination was made one month after the initiation of therapy. The third determination was made one year after the onset of treatment in order to assess the long-term effects. The effect of drugs upon their cognitive functions was assessed in a follow-up psychological testing performed after one year of therapy. The studies combined with statistical analysis led to a conclusion that after one month of monotherapy there occurred a significant drop in thyroxine concentration levels, still augmented after one year. Patients treated with carbamazepine showed a significant decrease of T3 levels after one month and one year, whereas treatment with phenobarbital and primidone did not result in significant changes of T3 concentration. Yet, T3 and T4 concentration values did not exceed normal limits. No type of monotherapy resulted in significant long-term changes of TSH concentration levels. No clinical signs of hypothyroidism nor goiter were observed in the studied children. After one month of monotherapy with carbamazepine and phenobarbital there was observed a significant increase of prolactin and cortisol levels, which was absent after one year. The values observed did lie within normal limits. No significant changes were observed with respect to the effect of the studied drugs upon blood serum LH and testosterone levels. After a one-year monotherapy with primidone the children revealed a significant improvement of results measured on performance scale and by means of a full Wechsler scale. Carbamazepine and phenobarbital did not affect the intelligence quotient of the studied children.(ABSTRACT TRUNCATED AT 400 WORDS)
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PMID:[The effect of monotherapy on concentration of selected blood serum hormones and upon cognitive function of children with epilepsy]. 134 59

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

Nutritional iodine deficiency and endemic goiter are widely prevalent in developing countries, affecting an estimated 1 billion people. Recent studies in India, using radioimmunoassay methods, have shown that the incidence of neonatal hypothyroidism in endemic goiter regions is more than a hundredfold higher than the incidence in nonendemic regions. This knowledge has given a new momentum to the iodine prophylactic program in the country, resulting in the protection of hundreds of thousands of newborns from mental retardation.
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PMID:Neonatal hypothyroidism in India. 157 62

The occurrence of congenital deafness, mutism and goitre unassociated with cretinism or mental retardation in euthyroid patients is known as Pendred's Syndrome. It has been estimated that 4-10 % of children with congenital deafness suffer from this condition. The perceptive hearing loss is considered to be present at birth although it is frequently not recognized for several years. The cause of the hearing defect is a congenital bilateral malformation of the cochlea of the Mondini type. The goitre is not recognized clinically at birth or in early childhood. It becomes apparent in the pre-pubertal years when it presents as a colloid enlargement progressing to a nodular goitre. The thyroid defect has been shown to be a partial defect in iodine organification leading to the underproduction of thyroxine and subsequent thyroid hyperplasia. The syndrome is caused by a single mutant recessive gene responsible for both the deafness and goitre. Its autosomal mechanism gives an equal incidence in both sexes, unusual in thyroid disease. This article reviews the current aspects of pathogenesis and treatment of this syndrome and reports its occurrence in two Sudanese siblings.
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PMID:Goitre and deaf-mutism. 181 81

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

The clinical manifestations of various degrees of mental retardation, spastic diplegia, and deaf mutism are known as the neurologic type of endemic cretinism (EC), occurring in countries with high goiter endemicity. Maternal iodine deficiency has been established as the major cause in EC, whereas a genetic predisposition has not been well-documented. Genetic data on 70 families with EC from Highland Ecuador are reported. A segregation analysis of 49 fully classified families yielded an estimate of P = 0.245 (var [P] = 0.00167). Half-sibs were all unaffected and no significant birth order effect was observed among 101 probands. The data indicate an autosomal recessive predisposition as a major etiological factor. Because the neurologic type of EC represents a defined section of the spectrum of iodine deficiency disorders (IDD), the term fetal iodine deficiency disorder (FIDD) rather than cretinism is suggested. The clinical findings in 70 patients were used to delineate the minimal diagnostic criteria of FIDD.
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PMID:Clinical pattern and the genetics of the fetal iodine deficiency disorder (endemic cretinism): results of a field study in Highland Ecuador. 230 74

Both animal and vegetable life depend for their existence on appropriate amounts of various trace elements, albeit in very small amounts. This paper lists some of these trace elements and the ailments in which they play an important role. The elements discussed are gold, platinum, copper, lead, zinc, aluminium, silica, mercury, cadmium, selenium, arsenic, and iodine. The diseases involved range from multiple sclerosis, various cancers, arthritis, goitre, Down's Syndrome, and mental retardation. Less well known are Keshan, Alzheimer's, Itai-Itai, and Minamata diseases. Of particular interest in the latter part of the twentieth century is the discovery that serious deficiencies of either copper or zinc in the diet of animals may break down their immune defence mechanisms. The ability of certain plants selectively to concentrate particular heavy metals in their tissues and pollen is discussed.
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PMID:Geology, trace elements and health. 268 20

A women aged 24 years with congenital perceptive impairment of hearing, was referred to an ear, nose and throat department on account of dysphonia. It was found that the only functioning thyroid tissue was in the midline at the base of the tongue. The combination of congenital perceptive impairment of hearing and goitre at the base of the tongue has only been described once previously and was, on that occasion, associated with mental retardation. The present author's patient was of normal intelligence.
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PMID:[Goiter of the tongue base and bilateral perceptive impairment of hearing]. 281 98


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