Gene/Protein Disease Symptom Drug Enzyme Compound
Pivot Concepts:   Target Concepts:
Query: UMLS:C0025362 (mental retardation)
 15,878 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

We performed a retrospective analysis of 394 patients who were treated for active tuberculosis (TB) at our hospital from 1976 to 1997. The diagnosis criteria for establishing TB were history of direct contact with TB patients, tuberculin skin test reactivity, positive bacteriology and radiographic findings compatible with TB. There were 192 males and 202 females (age range 1 month to 18 years of age, mean 6.3 years of age). Fifty-four percent of the cases were under 5 years of age. Primary pulmonary TB was presented in 200, post primary pulmonary TB in 97, pleural effusion in 53, endbronchial TB in 4, TB meningitis (TBM) in 28, miliary TB in 28 and other extra-pulmonary TB in 31. A history of contact with the patients was obtained in 72.8% of cases. Two hundred and thirty (58.4%) had received BCG, 134 (34%) no BCG, 30 (7.6%) were unclear. Especially, under 5 years of age, only 29 (13.6%) had received BCG. TBM is not disappeared in Japan and there were 28 cases with TBM. Fifteen patients out of them recovered completely, 8 patients recovered with severe neurological sequelae which included mental retardation, motor weakness, seizures and hydrocephalus and 5 patients died. Twenty-six had no BCG. Particularly in 1990s, we had experienced 4 dead TBM cases, 1 multi-drug resistant (MDR) TBM case and 1 TBM case due to nosocomial infection. Children with TBM should received 12-month regimen using initial daily treatment with isoniazid, rifampin, pyrazinamide, and streptmycin, followed by isoniazid and rifampin administered daily. Pulmonary TB in children is successfully treated with 6-month standard chemotherapy using isoniazid, rifampin, and pyrazinamide daily for 2 months, followed by isoniazid and rifampin daily for 4 months. In order to promote TB control and eliminate childhood TB, especially in infants, the following is necessary; 1) early detection and treatment of adult TB patients, source of infection, 2) prompt and appropriate contact examination and chemoprophylaxis, 3) BCG vaccination during early infancy, 4) protection from MDR TB are most important in Japan.
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PMID:[The current situation and treatment of childhood tuberculosis]. 1035 23

The study was conducted on two groups of newborn infants: Group A; a random sample of 3000 infants attending different Health offices in Alexandria for BCG vaccination. Their ages ranged from 5-120 days with a mean age of 39.9 days. Group B; included all the infants born to high risk families attending the clinic of Human Genetics Department, Medical Research Institute (9 infants; 7 with family history of PKU and 2 with family history of congenital hypothyroidism). Their ages ranged from 7 to 60 days with a mean age of 18 days. The newborn infants of the two groups were screened for three treatable inborn errors of metabolism, phenylketonuria "PKU", galactosemia and congenital hypothyroidism with the aim of early detection and therapy to prevent mental retardation. In group A; one baby with transient hyperphenylalaninemia (HPA) (0.33%) and one presumptive case of galactosemia (0.33%) were found. Initial positive results were found in eleven infants they had high levels of thyroid stimulating hormone (TSH). On reevaluation of nine infants of them they were all euthyroids. In Group B, four infants were detected among the infants of PKU families. After confirmation of these results breast feeding was stopped at once and the infants started their dietary management and were kept on it with follow up and periodic evaluation of the adequacy of treatment.
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PMID:Newborn screening for certain treatable inborn errors of metabolism in Alexandria. 1721 93

Prader-Willi syndrome is a genetic disorder characterized by infantile hypotonia, childhood obesity, characteristic facial appearance, mental retardation, hypogonadism and short stature. It is described as a 2-stage disorder with an infantile hypotonic phase, followed by a childhood obese phase. The first phase, during the newborn and infancy period, is characterized by marked hypotonia, poor sucking, swallowing, coughing, crying, and episodes of asphyxia. Since these signs of poor strength cause poor reversal in the postoperative period, muscle relaxants should be used cautiously, especially in patients in the first phase of the syndrome. We experienced the anesthetic management of a 5-month-old female patient with Prader-Willi syndrome under general anesthesia, without muscle relaxant for excision of BCG lymphadenitis and a preauricular mass.
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PMID:Anesthetic management in a pediatric patient with infantile phase Prader-Willi Syndrome: A case report. 3062 70