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Biomedical subjects

S M Pueschel

Publications and source records attributed to S M Pueschel.

At least 91 records · Page 5Linked to original sources
PubMed1981

Therapeutic attempts in infants with nonketotic hyperglycinaemia.

Identical male twins with non-ketotic hyperglycinaemia did not exhibit any development progress while on strychnine treatment. Since other therapeutic attempts with single agents previously had failed in most instances, we tried a combination of various treatment modalities. The results indicated that the administration of glycine receptor antagonist (strychnine) together with a low-protein diet (1.5 gm/kg/day), augmentation of 1-C units (N(5)-formlytetrahydrofolate), and removal of glycine from extracellular fluid (sodium salicylate and sodium benzoate) yielded some clinical improvement and positive biochemical changes in out patients.

Adrenocorticotropic Hormone↗
PubMed1981

Social development and feeding milestones of young Down syndrome children.

During an interdisciplinary longitudinal study, the social development and mastery of feeding skills of 89 young Down syndrome children were investigated. Sex, cardiac status, and muscle tone of subjects and parental follow-through data were examined for potential influence on Vineland Social Maturity Scale scores and on a selected subset of feeding milestones. The revealed that young Down syndrome children attained significantly higher scores on the Vineland and achieved most feeding milestones much earlier if they had no or only mild congenital heart disease, if their parents followed-through appropriately with furnished guidance, and if they had "good" muscle tone.

5-Hydroxytryptophan↗
PubMed1980

5-hydroxytryptophan and pyridoxine. Their effects in young children with Down's syndrome.

In a double-blind study, 89 children with Down's syndrome were given 5-hydroxytryptophan or pyridoxine hydrochloride in the first three years of life. The analysis of 5-hydroxyindole blood levels revealed that 5-hydroxytryptophan, pyridoxine, and the combination of 5-hydroxytryptophan and pyridoxine raised blood levels of 5-hydroxyindole equally well in 40% of the children. The assessment of muscle-tone ratings showed no significant difference among the study groups once children with moderate and severe congenital heart disease were excluded. Detailed studies of cognitive-adaptive function of children in the various groups found a significant difference ont the Vineland Social Maturity Scale at ages 6, 12, 18, and 36 months; yet the source of significance was a negative interaction affecting children whose parents were able to comply with furnished guidance; these children showed consistently higher levels of accomplishment.

Child, Preschool↗
PubMed1980

Partial trisomy 21.

This report presents and 18 1/2-year-old patient with clinical features of Down syndrome and severe mental retardation due to partial trisomy 21. Cytogenetic studies using Giemsa banding chromosomes revealed translocation of the 21q21 qter segment onto the short arms of chromosome #8 (46,XY,--8, + t(8qter 8p23::21q21 21 qter)). It is recommended that patients with features of Down syndrome whose chromosome analysis was done prior to introduction of banding studies undergo repeat karyotyping.

Adolescent↗
PubMed1979

Intelligence and phenylketonuria: effects of diet termination.

Trends in intellectual functioning before and after diet termination were examined in 30 children with PKU treated before 6 weeks of age and on a liberal diet for a mean of three years since the mean age of 59 months. Comparisons of trends in pre- and posttermination IQ scores with the linear spline technique revealed no significant differences. Comparisons of pretermination IQ scores with posttermination scores and scores from the most recent evaluation also yielded no significant differences. These data fail to support a relationship between termination of diet and impairment of intellectual functioning, at least during this period of observation.

Adolescent↗
PubMed1977

Perceptual-motor functioning in children with phenylketonuria.

Children with treated phenylketonuria (PKU) have been described as being at high risk for perceptual-motor dysfunction. In this study, the Wechsler Intelligence Scale for Children (WISC) and the Bender Gestalt test were administered to 19 school age children with treated PKU and of average intelligence who have been off diet from five months to six years four months. Perceptual-motor performance was evaluated, and school functioning was rated by classroom teachers. Substantial impairment of perceptual-motor functioning as measured by the Bender Gestalt test and lower WISC performance IQs than verbal IQs were observed in children of average intelligence. Quality of dietary control was found to be associated with performance on the Bender Gestalt test. These findings suggest the possibility of a specific deficit that could seriously interfere with academic progress, but which is not signalled by obvious impairment of overall intellectual functioning.

Achievement↗
PubMed1977

Nutritional management of the female with phenylketonuria during pregnancy.

This paper discusses a rational approach to appropriate nutritional management of the pregnant woman with phenylketonuria (PKU). Special food items, including new formulas and low-phenylalanine products, as well as allowable nutral foods are described. Particular emphasis is placed on the nutritional adequacy of this PKU diet during pregnancy. Such a diet should be palatable and tolerated well and should also take into consideration important economic, cultural, and psychological aspects. Clinics caring for PKU individuals should be so prepared because many otheir females are approaching childbearing age.

Amino Acids, Essential↗
PubMed1977

An educational and counseling program for phenylketonuric adolescent girls and their parents.

Since adolescent girls with phenylketonuria are in need of informed counseling, parents and their phenylketonuric daughters were invited to five successive group meetings at Children's Hospital Medical Center in Boston. During these sessions the staff reviewed general aspects of the disorder, dealt with particular problems of adolescence, and focused primarily on the complexities relating to maternal phenylketonuria. Subsequent lively discussions allowed the participants to express their feelings and concerns relative to these issues. The information conveyed will assist parents and their daughters in realistic planning for the future.

Adolescent↗
PubMed1977

Assessment of counseling practices at the birth of a child with Down's syndrome.

An attempt was made to analyze 414 parents' perceptions of their experiences at the birth of their child with Down's syndrome. The interpretation of the results and the parents' comments suggest that the counseling of parents with a newborn Down's syndrome child demands tact, truthfulness, and empathetic guidance. The parents should be informed of the child's condition in a kind and sensitive manner as soon as the diagnosis of Down's syndrome has been made. Appropriate terminology should be employed, and both parents should be present when the physician tells them of their misfortune. Unconditional recommendations of institutionalization of the child with Down's syndrome should be practices of the past. The professionals' thoughtful considerations and mature counsel should assist constructively in shaping the child's future.

Adolescent↗
PubMed1977

Discontinuing the phenylalamine-restricted diet in young children with PKY. Psychosocial aspects.

Analysis of questionnaires, informal group meetings, and individual interviews with parents and their children with phenylketonuria gave insight on the attitudes and experiences surrounding discontinuance of the phenylalanine-restricted diet. The investigation identified important aspects of changing social interactions as termination of the restricted diet progressed. The study suggests that preparatory discussions with parents and children prior to the change in diet should be held to avoid undue stress and conflict in such families.

Attitude to Health↗
PubMed1976

The Richner-Hanhart syndrome: report of a case with associated tyrosinemia.

The Richner-Hanhart syndrome with tyrosinemia was recognized in a mentally retarded adolescent boy. The clinical manifestations, including hyperkeratosis of the volar aspects of the hands and feet, thickening of the conjunctival epithelium, and corneal opacities, as well as biochemical aberrations of tyrosine metabolism, responded to specific treatment with a diet low in phenylalanine and tyrosine. Light and electron microscopical studies illustrate the underlying conjunctival pathologic changes.

Adolescent↗