High frequency of congenital adrenal hyperplasia (classic 11 beta-hydroxylase deficiency) among Jews from Morocco.

Steroid 11 beta-hydroxylase deficiency is relatively frequent in Israel among North African Jews. Over a 39-year period, 38 affected individuals from 25 families were diagnosed. Nineteen families came from Morocco, and in another 2, one parent came from Morocco (80% of all parents). Demographic studies showed that most of their grandparents were born in the region of the Atlas Mountains. In Israel, the overall incidence of the disorder is estimated between 1 in 30,000 to 1 in 40,000 births, but in offspring of Moroccan Jews the ratio is 1 in 5,000 to 1 in 7,000, with an allele frequency of 1 in 70 to 1 in 84 and a carrier frequency of 1 in 35 to 1 in 42. The clinical expression is characterized by a wide range of variability in the signs of androgen and mineralocorticoid excess. Virilization in the female ranged from enlarged clitoris in the mildest forms, to markedly hypertrophied clitoris with penile urethra and fused labial-scrotal folds in the most severe forms. Hypertension causing vascular accidents and death was observed in both severe and mildly virilized patients, whereas masculinized females were sometimes normotensive. Based on historical evidence, the origin of the ancestors, and the onomastic analysis of the families surnames, we propose that the mutation of 11 beta-hydroxylase deficiency in Jews from Morocco may have originated in either the ancient Jewish settlers or the native Berber tribes who lived in the region of the Atlas Mountains in the southern region of Morocco before the destruction of the Second Temple by the Romans, in the year 70 C.E.     

The prognostic significance of glial fibrillary acidic protein staining in medulloblastoma

Histologic and immunohistochemical properties of 53 medulloblastomas were analyzed with regard to clinical features and survival rate. No correlation was found between survival rate and histologic features of the tumor, such as desmoplastic reaction, number of mitoses, hemorrhages, necrosis, endothelial proliferation, glomerular arrangement, calcifications, rosettes, or oligodendroglial cells. However 82% of the patients with positive glial fibrillary acidic protein (GFAP) staining in numerous tumor cells survived more than 5 years; only 30% survived that long if their tumor cells were GFAP negative (P = 0.0093). This significant difference was not related to the mode of therapeutic protocol used. The authors suggest that GFAP staining may be a useful prognostic tool in medulloblastoma.     

Informed consent policies governing medical students' interactions with patients

When medical students become involved in patient care, concerns are raised that have ethical and possibly legal implications. In order to determine compliance with the guidelines of the U.S. government and the Joint Committee on Accreditation of Hospitals pertaining to informed consent, the authors conducted a study of hospital administrators, medical school department chairpersons, and medical school deans (with response rates ranging from 82.3 to 95.1 percent) concerning policies on student involvement in patient care. The results show that only 37.5 percent of all responding teaching hospitals specifically informed patients that students would be involved in care. Only 51 percent of the responding medical schools that specifically gave their students instruction or guidance on initial patient interaction as a matter of policy insisted that their students introduce themselves as students and clarify their role in patient care. The authors conclude that medical educators' compliance with the ethical requirements of informed consent is incomplete.     

Characterization of cognitive functioning in a subgroup of children with congenital HIV infection.

The cognitive status of 12 clinically stable children with congenital HIV infection, nine of whom were neurologically impaired, age three to nine years, was assessed using the Kaufman ABC test. Seven of the children had ARC; five were diagnosed as having AIDS. The same children were evaluated by standard neurologic examinations with Characterization of tone and fine motor functioning. Two were diagnosed as being mildly retarded; six were borderline; and four tested as being of average intelligence. Visual-spatial perceptual based functioning was found to be more impaired than were abstract reasoning and verbally mediated skills in six (50%) of the patients. This pattern of impaired information processing was found irrespective of overall cognitive status. On neurological and physiatric examination abnormal developmental histories were obtained, or poor fine motor coordination, abnormal tone and gait, and impaired rapidly alternating movements were found in 9 of the 12 subjects. These findings suggest selective impairment in distinct areas of neurologic and neuropsychological functioning during stable phases of HIV infection in a select group of children. These patterns appear to persist over time. They differ from the clustering of impaired skills seen in children of comparable socio-cultural backgrounds without HIV infection. Similarities in functioning are noted between this subgroup of children with AIDS and ARC and comparable groups with cerebral palsy.     

Cultured skin fibroblasts in schizophrenia: acute growth and susceptibility to damage

The study of cultured fibroblasts derived from skin biopsies of patients with inherited neurodegenerative disorders has aided in the elucidation of their pathological basis. This usefulness might be expected to extend to the study of fibroblast characteristics in schizophrenia in view of recent evidence of neurodegenerative changes in the disorder. In this study, the acute growth characteristics and response to toxic oxygen metabolites of fibroblast cell lines derived from skin biopsies of patients with schizophrenia (n = 9) are compared with those derived from psychiatric patients with various diagnoses not associated with a deteriorating course (controls = 11). No significant differences between the cell lines of the two patient groups are found.     

Streptococcus pneumoniae serotypes involved in children with pleural empyemas in France]

It has been suggested that the incidence of childhood empyema have increased during the last years in France without clear explanation. Streptococcus pneumoniae is responsible for the vast majority of bacteriological documented cases. Potential prevention of pleural empyemas by the heptavalent pneumococcal conjugate vaccine is dependent on adequation between specific pneumococcal serogroups present in vaccine and those responsible for empyemas. MATERIAL AND METHODS: We retrospectively collected cases of pleural empyemas registered at the National Reference Center for pneumococci (December 2002 to February 2004). Thirty children, aged 4.1+/-3.3 (SD) years, were included. RESULTS: Ten specific serogroups were identified: 1, 3, 5, 6B, 7F, 9V, 14, 18C, 19A, and 23F. Serogroups 19A and 1 were the 2 dominant serogroups and represented 50% of cases. All children infected with serotype 19A were younger than 5 years, whereas serotype 1 was identified in 80% of empyemas in children older than 5 years. Among the 30 patients enrolled, 20 (69%) were infected with serotypes not included in the conjugate vaccine. CONCLUSION: These results thus limit the potential impact of the heptavalent pneumococcal conjugate vaccine on the frequency of pleural empyemas in children.