Adenocarcinoma of the prostate presenting initially as an intracerebral tumor.

BACKGROUND. The authors report a patient who was admitted to the hospital with neurologic symptoms and signs that were thought to be caused by a primary intracranial tumor. METHODS. Craniotomy resulted in successful resection of an occipital lobe tumor reported histologically as a papillary adenocarcinoma, probably metastatic from the kidney. However, a complete diagnostic study failed to demonstrate the primary focus. RESULTS AND CONCLUSIONS. Thirteen months later, the patient was readmitted to the hospital and found to have metastatic prostatic carcinoma. Immunoperoxidase staining for prostatic acid phosphatase of the prostatic tissue and of the previously resected brain tumor tissue indicated that the brain lesion was metastatic from the prostate.     

Evidence for a fourth locus in Usher syndrome type I.

Usher syndrome type I (US1) is an autosomal recessive condition in which three different genes have been already localised (USH1A, USH1B, and USH1C on chromosomes 14q32, 11q13, and 11p15 respectively). The genetic heterogeneity of US1 has been confirmed in a previous study by linkage analysis of 20 French pedigrees. Here, we report the genetic exclusion of the three previously reported loci in two large multiplex families of Moroccan and Pakistani origin, suggesting the existence of at least a fourth locus in Usher syndrome type I.     

A man, a syndrome, a gene: Clouston's hidrotic ectodermal dysplasia (HED)

This paper presents a biographical sketch of Dr. H. R. Clouston, whose eponym is attached to a type of hidrotic ectodermal dystrophy, and a brief account of the mapping of the gene and its identification as the connexin gene, GJB6.     

Psychosocial and economic profile of a sample of families with thalassaemic children in Lebanon.

Thalassaemia major is a relatively common disease in Lebanon. This study of 41 families with 54 patients attending the American University of Beirut Medical Center was conducted to define some aspects of the disease in Lebanon and to assess the attitudes of affected families on relevant psychosocial and economic issues. We conclude that because of the high frequency of consanguineous marriage, thalassaemia major is more common in Lebanon than might be expected on the basis of the incidence of the trait. Most patients are diagnosed early in life, but their treatment is generally far from adequate; securing desferrioxamine and paying for follow up visits to the doctor seem to be the most important financial burdens. The general population of the country is not properly informed yet and about 70% of the families had not heard about the disease before having an affected child. The inherited nature of the disease is not clear in the minds of a high percentage of the families, and in about 30% of cases the family had not been told about the advisability of screening to detect heterozygotes. The great majority of families favour a preventive approach to thalassaemia, based on heterozygote screening and the possibility of prenatal diagnosis.     

Interstitial deletion of band q12 of chromosome 5

A six-months-old girl is presented with psychomotor retardation and multiple congenital malformations. The karyotype done on peripheral blood lymphocytes and skin fibroblasts was found to be 46,XX del(5)(411q13). The parents are consanguineous. Their karyotypes were normal.
The genes for Arylsulphatase B and Hexosaminidase B are not located in band 5q12.     

Composition chimique de l’huile essentielle d’Artemisia herba-alba provenant de la région de Biskra (Algérie)

Artemisia herba-alba Asso (Asteraceae) essential oil (EO), obtained by hydrodistillation from aerial parts, and was investigated using GC-FID and GC-MS techniques. The EO yield, based on dry weight, was 0.95% (v/w). Forty six components corresponding to 92.61% of the oil were identified. The EO contained in majority: cis-chrysanthenyl acetate (25.12%); (2E,3Z) 3,5-heptadienal-2-ethyliden-6-methyl (8.39%); α-thujone (7.85%); myrtenyl acetate (7.39%); verbenone (7.19%), chrysanthenone (4.98%). Chemical composition was very specific for this Algerian plant.