Tay-Sachs disease with atypical chronic course and limited brain storage: alpha-locus hexosaminidase genetic compound.

A 19-year-old Irish-Jewish male had a slow neurologic regression starting at age 4 1/2 years with stuttering. The chronic course resembled that of Spielmeyer-Vogt (juvenile ceroid-lipofuscinosis) disease. The brain was atrophic with neuronal losses and huge compound inclusions in the remaining neurons.

[Experiences and attitudes of parents to ambulatory preventive and curative medical care in infancy and early childhood].

376 families having a two-year-old child were asked about their experience and opinion concerning their child's outpatient preventive and curative medical care. Half the sample resides in two urban areas ("the city") and half the sample resides in three non-urban ("the country") locations with no practising paediatrician at the time of the interview. In the city, all but 4.

[Preventive examinations in infants and small children. A longitudinal study of practicing pediatricians].

A prospective study to evaluate well-child examinations was based on a sample of 750 children drawn at random from the patients of 15 practising paediatricians who participated in the study. These children were followed from the age of 3 months, when each who was vaccinated also received a specified examination, until the age of 5 years. Participation in the program of examinations was still 86% at the age of 18 months.

The Prader-Willi syndrome: a study of 40 patients and a review of the literature.

Forty patients with the Prader-Willi syndrome have been examined. The typical features begin in gestational life with poor fetal vigor and difficulties with birth and post-partum feeding. The classical features of hypotonia, small hands and feet, cryptorchidism can be identified at this time.

Normal superoxide dismutase-1 (SOD-1) activity with deletion of chromosome band 21q21 supports localization of SOD-1 locus to 21q22.

The gene for superoxide dismutase-1 (SOD-1) is clearly on chromosome 21, although there is disagreement on the precise band location of SOD-1 on the long (q) arm of number 21. We report a patient with normal superoxide dismutase-1 (SOD-1) activity and an interstitial deletion of chromosome 21 resulting in monosomy for band q21. His phenotype is characterized by moderate mental retardation, a long narrow face, high and arched palate, cardiac murmur, undescended testes, and long hyperflexible extremities.

Familial Y-autosome translocation in two unrelated girls.

Two unrelated girls presenting with developmental delay were found to have familial Y-autosome translocations. The first had a Y;15 and the second a Y;22 translocation, involving only the Y heterochromatin on the basis of Q, C, SS, distamycin A and DAPI techniques. The first patient died of a medulloblastoma and at autopsy was found to have an adrenal neuroganglioma.

A balanced oral sedation technique.

The results of the preliminary clinical investigation for treating ambulatory patients in a nonhospital environment offer the following advantages of the regimen discussed: A high degree of predictability, with a wide margin of safety, when utilized properly. All of the patient's vital signs remained stable, although respiratory rate and depth were depressed for short periods of time. Adequate working time to perform all phases of pedodontic dentistry, with a minimum amount of postoperative nausea.

Trace metals in dental practitioners: a three-year study.

Concern regarding the hazard of mercury to the health of dentists has been widely expressed. Three groups of patients have been followed for three years to evaluate the effect of dental practice on mercury levels in the serum of dentists. At the beginning of the study and again three years later, only dental practitioners with at least twenty years of active practice had significantly higher levels of mercury in their sera.

9p duplication confirmed by gene dosage effect: report of two patients.

We report two cases duplication of 9p. This investigation was prompted by the identification of two patients with minor congenital anomalies and mental retardation. Chromosomal karyotype in both patients revealed 9p duplication, one as a result of tandem duplication of 9p at band p13 leads to p24 and the other due to an extra and deleted chromosome number 9 (pter leads to cent leads to q13).

Balanced reciprocal (X;9) translocation in a girl with primary amenorrhea.

An 18-year-old girl with an X-autosome translocation t(X;9)(q22;q12) had primary amenorrhea without other manifestations of the Turner syndrome. X-replication and GALT activity studies showed that both of the two translocated X fragments and adjacent autosomal segments are active. An explanation is offered to account for the relationship between the abnormal karyotype and the phenotype.