Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0917816 (mental retardation)
 15,867 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

In a screening program in Cincinnati urine specimens from over 20,000 infants and children were tested for inherited metabolic disorders involving amino acids, carbohydrates, phenolic acids, organic acids, keto acids, mucopolysaccharides, and imidazoles. The subjects were selected on the basis of symptoms such as vomiting, diarrhea, acidosis, seizures, failure to thrive, delayed development, mental retardation, and others. The tests were based primarily on paper chromatographic techniques. Patients with 21 different metabolic disorders were found. The patterns of abnormal excretion of amino acids and other metabolites are often useful in making a diagnosis.
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PMID:Screening for metabolic disorders among high risk infants and children. 14 35

An infant with short stature and progressive skin lesions of cheeks and dorsum of the hands is described. Further problems such as recurrent diarrhoea and respiratory infections suggested zinc-deficiency, malabsorption-syndrome, Bloom syndrome and early Lupus Erythematosus respectively. Finally Rothmund-Thomson syndrome was diagnosed. This rare genetic disorder is characterized by variable expression of typical cutaneous changes, cataracts, skeletal anomalies, short stature, abnormal hair growth and defective nails and teeth, mental retardation, hypogonadism and a typical facial appearance.
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PMID:[An infant with short stature and red cheeks (Rothmund-Thomson syndrome)]. 177 48

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

An epidemiological study of mentally retarded persons in a Norwegian municipality was carried out in order to collect data about prevalence, causes, medical treatment and follow-up. The number of mentally retarded was found to be twice the average for the country as a whole. The causes of mental retardation indicated that this was due to a low degree of urbanization--a stable population, larger families, more births at home and long distance from hospital. The survey revealed that medical care had been seriously neglected. Several patients had never been given a diagnosis, and the number of contacts with a doctor for any reason was far below the average for the rest of the local population. Several were found to have unknown impaired vision and hearing, and many were being inadequately treated for common diseases like migraine, myalgia, stomach pain, diarrhoea etc. The neglect was worse among those living at home than among those living in the institutions for the mentally retarded.
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PMID:[The mentally retarded in the local community--occurrence, causes, medical treatment and follow-up]. 236 42

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

A Turkish girl presented with a history of fever, diarrhoea, convulsions, recurrent infections and failure to thrive from the age of 5 months. Megaloblastic anaemia was present and profound folate deficiency was evidenced in plasma and in CSF. Treatment with oral folic acid cured the anaemia, diarrhoea and infections but failed to prevent convulsions and the appearance of mental retardation and cerebral calcifications. Loading tests with folic acid and its derivatives led to the conclusion that the folate deficiency was caused by a defect in folate transport both across the gut and the blood-brain barrier. Low plasma concentrations of methionine prompted a therapeutic trial with methionine associated with vitamin B12 and folic acid that spectacularly improved the convulsions.
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PMID:Congenital folate malabsorption. 398 28

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

A 34-month-old girl with Down's syndrome from the Marshall Islands was hospitalized in September, 1981, at Tripler Army Medical Center for evaluation of a heart murmur and definitive repair of an imperforate anus for which she had had a colostomy since birth. She became jaundiced and had serologic evidence of hepatitis A infection. Over the next month eight hospital personnel (four nurses, three nursing assistants and one physician) who had had direct contact with the patient became ill with hepatitis A. Our patient, like the index cases in five previous reports of nosocomial hepatitis A outbreaks, was incontinent of feces. In addition she was hospitalized during the incubation period before clinical illness when virus fecal excretion is likely to be maximal. Patients in the prodromal stage of hepatitis A infection who are hospitalized pose a significant risk to exposed hospital staff. This risk is enhanced if there are additional factors present which promote spread of disease by the fecal-oral route such as infancy, mental retardation, diarrhea and fecal incontinence.
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PMID:Hospital outbreak of hepatitis A: risk factors for spread. 623 34

Morbidity and mortality patterns were examined among 968 pediatric patients on the island of Dominica. These children, whose ages ranged from newborn to 13 years, were seen by the consulting pediatrician at Princess Margaret Hospital during a 9-month period in 1978-79; 852 children were seen as inpatients. A total of 477 cases of infectious disease were diagnosed among inpatients alone. Stool examination in a subsample of these children revealed parasites (mostly Trichuris) in roughly half. Also found was a relatively high prevalence of chronic health problems, especially rheumatic heart disease (34 cases), mental retardation (28 cases), epilepsy (31 cases), and sickle cell anemia (21 cases). Examination of the hospital records of 100 of the inpatients ages 6 months-5 years demonstrated that 34% were low weight-for-age according to the World Health Organization classification. There were 34 deaths (9 pediatric patients and 255 newborns). The high neonatal mortality is attributed to an unusually high incidence of immaturity and prematurity, irregular and insufficient hospital oxygen supply, and a septicemia epidemic. Although these findings reflect patterns of the more serious diseases, they could be useful in planning preventive health measures. The high prevalence of malnutrition points to a need for nutrition education, promotion of breastfeeding, promotion of vegetable growing, and the introduction of a home-based growth chart. The high incidence of diarrhea, typhoid fever, and helminthiases highlights problems with general hygiene, latrines, and water supply. There is also a need for follow-up facilities for children with rheumatic heart disease, epilepsy, and sickle cell anemia. It is suggested that hospital care could be improved by dividing pediatric and neonatology wards into 5 units: isolation ward, malnutrition ward, semi-intensive care unit, general pediatrics, and pediatric surgery.
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PMID:Morbidity and mortality patterns among pediatric patients in Dominica (West Indies). 662 10

Two consecutive short gut babies with a residual small intestinal length of 44 and 46 cm, respectively, were managed initially by total parenteral nutrition and oral feedings begun around the fifth week postoperatively. Uncontrollable diarrhea, malabsorption, and failure to thrive made the early management of these babies a difficult problem. The two infants developed clinical features of hypothyroidism at the age of 4 and 6 mo, respectively. Hypothyroxinemia was confirmed by repeated detection of low serum levels of T4. Hormonal treatment resulted in clinical recovery and normalized T4 values. Thyroid function has remained normal after discontinuation of treatment, underlining the transient nature of hypothyroidism. Early recognition and therapy of this previously unreported association is essential in order to prevent mental retardation.
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PMID:Transient hypothyroidism associated with short gut syndrome. 707 72


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