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Biomedical subjects

A David

Publications and source records attributed to A David.

At least 199 records · Page 11Linked to original sources
PubMed1992

Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 16 non-Japanese cases.

Kabuki make-up (Niikawa-Kuroki) syndrome has been described mainly in Japanese patients. In this paper we report sixteen new cases from Europe and North America, suggesting that Kabuki make-up syndrome may be more common outside of Japan than supposed. Their features are compared with those of the Japanese patients and most of our findings are similar to those previously reported. The facial phenotype is specific and easily recognizable, regardless of ethnic origin. Postnatal growth retardation and mild mental retardation are confirmed to be cardinal manifestations of the syndrome. Skeletal anomalies were present in all cases but most of the radiological changes were non-specific. The specificity of metacarpophalangeal pattern profile is not confirmed. Conversely, dermatoglyphic analysis is helpful in the diagnosis of this condition. Two differences have emerged between the Japanese patients and those in this study. Firstly, two-thirds of the patients in this series had significant neurological dysfunction other than mental retardation. Secondly, joint hypermobility appears more common in non-Japanese patients. Confirmation of these findings requires further studies.

Abnormalities, Multiple↗
PubMed1992

Steroid hormones control on nucleic acid biosynthesis in skeletal muscle.

The medical, agricultural and scientific interest of the muscular tissue is well established in the literature. Its formation and function are essential for survival. It is also known that steroid hormones are involved in the growth, development and maturation of skeletal muscles (sexual hormones) as well as in the process of body adjustment to the stress factors in the environment (glucocorticoid hormones). Starting from these considerations, our experiment has made an attempt to clarify part of the mechanisms involved in the action of steroid hormones at muscle level. On this purpose, 3H thymidine and 3H uridine incorporation was followed up in various types of skeletal muscles (femoral biceps, diaphragmatic, psoas) from rats treated with steroid hormones. Though known as anabolic hormones, sexual hormones did not induce significant and persistent changes in the nucleic acid synthesis (NAS), except for testosterone which enhanced RNA synthesis only in the level femoral muscle after 21 days of administration. Progesterone and the glucocorticoid hormones are known as hormones of proteic catabolism but it seems that this effect is more marked in muscles whose structure predominantly consists of white fibres (rapid muscles), as confirmed by our experiment.

Animals↗
PubMed1992

Confirmation and refinement of the genetic localization of the Coffin-Lowry syndrome locus in Xp22.1-p22.2.

The Coffin-Lowry syndrome (CLS) is an X-linked inherited disease of unknown pathogenesis characterized by severe mental retardation, typical facial and digital anomalies, and progressive skeletal deformations. Our previous linkage analysis, based on four pedigrees with the disease, suggested a localization for the CLS locus in Xp22.1-p22.2, with the most likely position between the marker loci DXS41 and DXS43. We have now extended the study to 16 families by using seven RFLP marker loci spanning the Xp22.1-p22.2 region. Linkage has been established with five markers from this part of the X chromosome: DXS274 (lod score [Z] (theta) = 3.53 at theta = .08), DXS43 (Z(theta) = 3.16 at theta = .08), DXS197 (Z(theta) = 3.03 at theta = .05), DXS41 (Z(theta) = 2.89 at theta = .08), and DXS207 (Z(theta) = 2.73 at theta = .13). A multipoint linkage analysis further placed, with a maximum multipoint Z of 7.30, the mutation-causing CLS within a 7-cM interval defined by the cluster of tightly linked markers (DXS207-DXS43-DXS197) on the distal side and by DXS274 on the proximal side. Thus, these further linkage data confirm and refine the map location for the gene responsible for CLS in Xp22.1-p22.2. As no linkage heterogeneity was detected, this validates the use of the Xp22.1-p22.2 markers for carrier detection and prenatal diagnosis in CLS families.

Abnormalities, Multiple↗
PubMed1991

Soft contact lenses with partial occlusion for prolonged lateralization of visual input.

Techniques for prolonged lateralized presentation of visual material using specially designed contact lenses have been devised but with limited applicability. We have been able to manufacture soft contact lenses which occlude either the right or left visual field by applying a commercially available dye to the relevant portion of the lens. The resultant field defect was confirmed electrophysiologically. The lenses would appear to have numerous applications in experimental psychology in the study of cerebral asymmetries.

Contact Lenses, Hydrophilic↗
PubMed1991

Intrauterine treatment of thyroid goiters.

A fetal thyroid goiter detected by ultrasonography at 20 weeks of amenorrhea (WA) was diagnosed at 23 WA by a second ultrasound examination and a TSH assay in amniotic fluid. Since a sample of fetal blood at 27 WA showed that hypothyroidism was compensated and that goiter size and amniotic fluid volume were stable, intra-amniotic injection of 300 micrograms of L-thyroxine was delayed until 36 WA. This injection was performed before delivery to avoid potential perinatal complications (dystocia and neonatal respiratory distress) caused by large goiters.

Amniocentesis↗
PubMed1991

Racism and psychiatry.

Explore the source record for details and available documents.

Attitude of Health Personnel↗
PubMed1991

[Beta-hemolytic streptococcal periorbital necrotizing fasciitis in a child].

The authors report a case of beta-haemolytic streptococcal periorbital necrosing fasciitis in a two old girl. Extensive cutaneous necrosis of the four eyelids developed after the installation of a major septic syndrome. Excision of the necrotic tissues required removal of the palpebral part of the orbicularis muscle and opening of the orbital septum. A graft was performed on the 23rd day. Active palpebral occlusion was retained by means of the orbital portion of the orbicularis muscle. Two complementary grafts had to be performed to ensure satisfactory palpebral occlusion. The periorbital localization, exceptional in children, must not be confused with periorbital cellulitis, a common disease, which never progresses towards necrosis. The authors stress the necessity of an early diagnosis in view of the importance of medical treatment and surgical drainage with opening of the septum, which is the only way of decompressing the oedema and preventing palpebral necrosis due to tissue ischaemia.

Anti-Bacterial Agents↗
PubMed1991

Influence of sex and glucocorticoid hormones on 3H cholesterol uptake in the aortic wall and 3H adrenaline in the brain.

The mechanisms involved in the atherogenesis process and the connection of the latter with stress were studied, by trying to elucidate the difference in the response of the two sexes to the causative factors. To this purpose, the role of the sex hormones (testosterone, estradiol, progesterone) and glucocorticoids (hydrocortisone hemisuccinate) in 3H cholesterol uptake in the aortic wall and 3H adrenaline in the brain was investigated. In males, the results show that these hormones favoured the uptake of the two markers whose level was significantly raised (p greater than 0.05; p greater than 0.01) as against the controls all along the 20 days of treatment. In females, the level of 3H cholesterol in the aorta and 3H adrenaline in the brain had a statistical significance (p greater than 0.05) only in the first days of treatment but after the 6th day it began to decline.

Animals↗