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. Lipid NANA was within normal limits in gray and white matter and GM2 gangliosides were moderately elevated at 11.5% lipid NANA. Beta-hexosaminidase A activity was reduced, secondary to a compound mutation at the alpha-locus. Lysosomal hydrolase activities and lipid composition showed nonspecific abnormalities. Exhaustive tissue extraction ruled out the possibility of tightly bound gangliosides to account for the relatively low GM2 ganglioside concentration. The extract contained unidentified chromogenic substances interfering with the resorcinol reaction. The similarly affected patient's sister lived to age 26 years and her brain was even more atrophic. No biochemical abnormality to account for progressive neuronal losses and relative lack of GM2 ganglioside storage was found.

[Preventive examinations in infants and small children. A longitudinal study of practicing pediatricians]. / Vorsorgeuntersuchungen bei Säuglingen und Kleinkindern. Eine longitudinale Studie praktizierender Kinderärzte.

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. By the age of 4 1/2, the participation rate had dropped to 40%. Between the ages of 3 months and 18 months, 11.2% of the sample had been diagnosed as having a pathological disorder. Of the 97 diagnoses, 35 were detected during the newborn period; 25 were detected by means other than the well-child examinations; and 37 were directly attributable to the examinations. 28 of the 97 diagnoses were still valid at the age of 5 years, and 5 of those children had a serious handicap. In an additional 59 suspected diagnoses (7.8%) only 6 could later be confirmed as a pathological condition. Of the 300 children who attended the last well-child examination at age 4 1/2, 45 (15%) had one or more pathological findings. Seventeen of the 45 diagnoses were detected between the 18-month exam and the 4 1/2-year exam, and 30 were detected at the time of the last examination. The number of diagnoses per physician varied. From each sample of 50 children per doctor, 1 to 20 children would have a disorder. Twelve of the 15 paediatricians were appreciative of the structured exam schedule, and most intended to continue with some parts of the program after the study's termination.

[Experiences and attitudes of parents to ambulatory preventive and curative medical care in infancy and early childhood]. / Erfahrungen und Ansichten von Eltern über die ambulante präventive und kurative ärztliche Versorgung im Säuglings- und Kleinkindesalter.

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 4.6% of the parents took their children to a paediatrician for the first vaccinations at three months. Nearly all the paediatricians used this opportunity to fully examine the child. In the country areas, 59% of the families had their children vaccinated by the family doctor, 38% of whom used the occasion to fully examine the child. The other 41% brought the child to the nearest city in order to visit a paediatrician. A majority of parents (80%) in all sampled areas expressed a desire for regular well-baby examinations by a physician. The well-baby clinics staffed by nurses are used significantly more frequently by country parents than by city parents. In the country, there is no difference between those families using a paediatrician and those using a family doctor. The data suggest that the clinics are a supplement, and not a replacement, for the preventive care given by a physician.

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. The delayed milestones, mental retardation and obesity become more prominent later. The average height of the patients in this series who were admitted to the Clinical Study Center was 149 cm and their weight was 114 kg. The weight and height curves show that Prader-Willi individuals are consistently shorter and heavier than normal children. Tests of endocrine function showed normal glucose tolerance. Insulin secretion was increased in relation to obesity. The rise in growth hormone (hGH) after injecting insulin to induce hypoglycemia and after the infusion of arginine was comparable to other obese individuals but was low in comparison to normal weight subjects. There was no rise in growth hormone with L-dopa administration, but there was a rise in hGH with the administration of 2-deoxy-D-glucose. The hypoglycemia produced by insulin was greater in the Prader-Willi patient than in obese controls. The rise in TRH (thyrotropin-releasing hormone) following the injection of TSH (thyrotropin stimulating hormone) was greater in the Prader-Willi patients than in the obese controls. Hypogonadism was routine in this series, and the response to LRH (luteinizing releasing hormone) was absent in all tested subjects. Treatment with clomiphene for 30 to 90 days significantly increased the response to LRH in three adult individuals who had not been treated with gonadal steroids previously and who were hypogonadal. Rectal temperature declined in three of the five Prader-Willi patients during exposure to an ambient temperature of 4 degrees C, but none of the three obese controls showed a decline. Food intake averaged 5167 kcal/d when six patients were given trays containing more food than they could eat. Food intake was not reduced when tryptophan was added to the diet. Salivary secretion was reduced in the Prader-Willi patients. A number of pulmonary function tests were significantly reduced in the study patients compared to obese or normal weight controls. The anatomic findings in four autopsied patients with the Prader-Willi syndrome showed no significant differences from those of obese subjects without this syndrome. The chromosomal pattern showed a deletion or translocation at chromosome 15 in 3 of 12 patients in whom this test was performed. These findings in 40 patients with the Prader-Willi syndrome have been compared with the information contained in 159 reports published in the medical literature.

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. The normal SOD-1 activity supports localization of this enzyme to 21q22.1.

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. The Y-autosome translocations in the affected patients were identical to those in their respective normal fathers (who had normal Y chromosomes as well). The absence of detectable translocated euchromatin from the subcentromeric region of the Y chromosome is consistent with normal female external genitalia and the absence of germ cell tumors in both patients. Whether the nongonadal neoplasias and hypoplastic uterus and ovaries in the first patient were related to the Y;15 translocation remains uncertain.

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. A smooth onset of action and a good experience of young patients who were confronted with a stressful situation. Profound local anesthesia is mandatory, otherwise painful stimuli will awaken the patient and result in a stormy encounter. The personality and experience of the dental personnel contributed a great deal to the smoothness and success of the procedure.

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. In no patient, however, was a serum mercury level higher than 5 mu g/dl obtained and this value is far below that which usually precipitates clinical symptoms of mercury toxicity. Thus, the occupational hazard of mercury to dentists may be overstated. Copper and zinc are also used in dental practice and the serum levels of these metals were investigated. None of the three groups had mean serum values that were beyond the normal ranges expected. There may be some differences related to age, diet or, possibly, occupation, but further investigation with a larger control group is needed.

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). Both patients has elevated galactose-1-phosphate-uridyl-transferase level demonstrating additional evidence for mapping GALT on the short arm of chromosome 9.