Reproductive genetic counselling in non-mosaic 47,XXY patients: implications for preimplantation or prenatal diagnosis: Case report and review

With an incidence of approximately 1 in 500 male newborns, the 47,XXY genotype is one the most common sex chromosome anomalies. It is also the most frequent genetic cause of human infertility. Some non-mosaic 47,XXY patients have sperm production which allows infertility treatment to be offered by ICSI. Therefore, the risk of transmitting a chromosome anomaly to the next generation is an important problem in reproductive genetic counselling of these patients. Here, we report on a twin pregnancy where two karyotypically normal neonates 46,XX and 46,XY were born after the use of ICSI in assisted reproduction of a patient with a non-mosaic 47,XXY syndrome. To date, only 38 evolving pregnancies including the present cases, have been reported after ICSI using sperm from non-mosaic 47,XXY patients. Although these data are scarce, they suggest that the risk of chromosome anomaly in the offspring of these patients is low; hence, their reproductive genetic counselling can be reassuring, and management of the pregnancy can proceed with caution.     

Tomo-anatomie hépatique. Introduction à l'écho-anatomie du foie normal

Résumé Ce travail tente de définir une écho-anatomie du foie normal à partir de neuf plans tomographiques de référence, chacun étant caractérisé par la morphologie de la glande hépatique, par son contenu structural et par son environnement topographique.Les auteurs interprètent l'imagerie échographique directement à partir de l'observation macroscopique de coupes anatomiques correspondantes. Ils indiquent que la corrélation anatomo-échographique est satisfaisante et dégagent quelques indications spécifiques pour chacune des incidences.     

Study of the renin-angiotensin system in essential hypertension

320 patients with essential hypertension divided into three groups (minor, medium and major severty) were studied against 50 normal controls. Plasma renin activity (PRA) was estimated in case of normal and low Na intake, furthermore, of low Na intake in association with administration of chlorothiazide, in the recumbent position as well as at the end of 4-hr walk. The hypertensive group of medium severity (Group II) revealed a significant decrease in PRA, compared with the controls and with the hypertensive group of minor severity (Group I), in each period of observation. A significant increase of PRA in response to insulin hypoglycaemia was demonstrable in all three groups and in the controls, but the increase was of significantly lesser degree in Group II than either in the controls or in Group I. The plasma catecholamine concentrations were found lower in Group II than in the controls and in Group I. An elevation of the plasma catecholamine levels was demonstrable in response to insulin hypeglycaemia, but it was of lesser degree in Group II than a Group I and in the controls. The poor responsiveness of the RAS in Group II is attributed to an inadequate adrenergic activity and to an increased mean arterial pressure in that group, but the higher age of patients and longer duration of hypertensive disease, both characteristic of the group of medium severity, may also effect the renin-angiotensin system.     

The relation of uric acid metabolism to transferase activity in patients with ischemic heart disease and hypertension

Blood plasma uric acid and urea content and aspartate aminotransferase activity were studied in 177 patients with ischemic heart disease and essential hypertension. It was established that the blood uric acid level did not depend essentially on the transamination processes in patients with ischemic heart disease but was closely connected with transamination processes and amino acid metabolism in patients with essential hypertension.     

Face cooling-induced reduction of plasma prolactin response to exercise as part of an integrated response to thermal stress

Summary This study was designed to verify if the decrease in blood prolactin (PRL) induced by selective face cooling during exercise could be part of a response to specific body thermal stress. Five healthy trained male cyclists presenting a significant plasma PRL elevation to exercise were, on three occasions and at weekly interval, submitted to a submaximal exercise (approx. 65% ) on ergocycle with and without selective face cooling. In absence of face cooling a first trial served to establish reference values for workload, heart rate and plasma PRL levels, the latter increasing markedly (450% of resting values) in these conditions. On a second trial but with workload maintained at reference values (222±9 W), a significant bradycardia was observed with face cooling; furthermore, plasma PRL response to exercise was significantly reduced (to 31% of original response). On a third trial with face cooling, workload had to be significantly augmented (242±10 W) to maintain heart rate at reference level (78%HR _max); in addition, plasma PRL response to exercise was almost unchanged compared to the reference-value level. The absence of a significant face cooling-induced decrease in sympathetic tonus, as evaluated through peripheral plasma catecholamines response, does not indicate a role for the autonomic nervous system in the face cooling-induced reduction of both heart rate and PRL responses during exercise. Assay of circulating peripheral beta-endorphins could indicate that the face cooling-induced PRL blunted response does not necessarily involve an opioid mediation. It was concluded that decreased plasma PRL levels could be associated to bradycardia, hyposudation and peripheral vaso-constriction to constitute an integrated response to face cooling during thermal stress. This study was supported by grants from Natural Sciences and Engineering Research Council of Canada and from Régie de la Sécurité dans les Sports du Québec