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We herein report a male patient known as having a XYY karyotype. At the age of 26 years a Prader-Willi syndrome (PWS) was diagnosed. Before that time the whole symptomatology was ascribed to the XYY syndrome. This is the first reported association of PWS and polygonosomal abnormality in a male adult (whose height is above average).

The aim of this study was to evaluate the technique of cerebral protection by selective cerebral perfusion with moderate hypothermia during surgery of the transverse aortic arch. Twenty-three patients were operated for partial or total replacement of the transverse aortic arch between January 1987 and December 1993 by the technique of selective cerebral perfusion by bilateral carotid cannulation. There were 12 cases of aneurysm of the ascending aorta and/or transverse aortic arch, one aneurysm of the innominate artery and 10 Stanford type A aortic dissections. The selective cerebral flow rate was 1-1.5 l/min; the perfusion pressure 60-80 mmHg and the temperature of cerebral perfusion 25-28 degrees C. The perioperative mortality was 13%; the causes of death were not neurological (3 haemorrhages). The neurological morbidity was 10% (one brachial monoparesis and one bulbar tetraparesis). This is therefore a useful technique of cerebral protection which avoids the complications of deep hypothermia with circulatory arrest and does not limit the time of aortic repair.

The authors report an analysis concerning the healing of tracheo-bronchial anastomoses after lung- and heart-lung transplantation. The present study includes 64 anastomoses selected from a total of 80 cases. Sixteen had to be excluded because of early post-operative death; none of these deaths was related to an air-way complication. Bronchial healing was assessed by bronchoscopic follow-up; the appearance of the suture-line was classified according to Couraud's grades. The initial reference was the examination at 2 weeks, which was compared to subsequent follow-up. At the initial assessment, 42 anastomoses were grade 1, 4 were grade II, and 18 were grade III. The subsequent anatomic result was satisfactory for 52 sutures (81%). The complications were malacia in 2 cases, stenoses treated with a stenting device in 4 cases, dehiscence in 6 cases. The duration of ischemia and postoperative mechanical respiratory support, as well as the proximal or distal site of the anastomosis appeared to be of significant prognostic value.

The medical files of 532 patients who underwent medically induced abortion over a 10-year period (1982-1991) in the French department of Ille-et-Vilaine were studied in order to evaluate the indications and outcomes. Among the patients, 358 resided in the department (67%). Comparatively with the number of births during the 10-year period, there was a relative increase in the number of medically induced abortions from 3.5/1000 to 5.5/1000. This parameter was taken into consideration for the interpretation of a parallel decrease in the perinatal mortality during the same period, from 5.9/1000 to 5.1/1000. There was a maternal indication in 91 cases which correspond to the former category of therapeutic induced abortions. There was a clear increase in 1991 corresponding to abortions induced because of extremely premature rupture of the membranes which were formerly allowed to continue to dead births. Foetal indications were frequent: 441 cases (83%). Exogenous causes were lower (15.6%), particularly due to the disappearance of indications resulting from maternal irradiation. For indications related to infection, the vaccination against rubella and improved prenatal diagnosis resulted in the disappearance of rubella as an indication during the last three years of the study and a clear decrease in the number of toxoplasmosis indications. There were few indications due to maternal infection by human immunodeficiency virus (4 cases). Chromosomal abnormalities were the main cause of medically induced abortion among the foetal indications (27.7%).(ABSTRACT TRUNCATED AT 250 WORDS)

From 1st January 1988 to 31st December 1991, 107 patients were operated on for spontaneous idiopathic (N = 69) or secondary pneumothorax (N = 38). Surgery was performed for recurrence (63.6%) or failure to respond to management by tube drainage (36.4%). Ninety seven patients underwent pleural abrasion, and 10 underwent parietal pleurectomy. Prolonged continuous epidural analgesia was performed in 57 cases. Postoperative complications occurred in 15 patients (14%). Overall morbidity was significantly higher in patients with chronic lung disease (26.3%) than in patients without chronic lung disease (7.2%) (p < or = 0.01). As far as postoperative hospital stay was concerned, the same significant difference was observed (16.8 days versus 12.7 days) (p < or = 0.005). In patients with idiopathic pneumothorax, postoperative hospital stay was significantly shorter in those with epidural pain relief (11.7 days) than in the others (13.6 days) (p < or = 0.025). No recurrence was observed with a mean follow-up of 27 months. We conclude that: 1) surgery is the most efficient treatment of persistent or recurrent pneumothorax; 2) operative morbidity is related to the underlying lung disease and not to the procedure itself; 3) epidural analgesia is beneficial in this surgery.

The authors report an analysis concerning the healing of tracheo-bronchial anastomoses after lung- and heart-lung transplantation. The present study includes 64 anastomoses selected from a total of 80 cases. Sixteen had to be excluded because of early post-operative death; none of these deaths was related to an air-way complication. Bronchial healing was assessed by bronchoscopic follow-up; the appearance of the suture-line was classified according to Couraud's grades. The initial reference was the examination at 2 weeks, which was compared to subsequent follow-up. At the initial assessment, 42 anastomoses were grade I, 4 were grade II, and 18 were grade III. The subsequent anatomic result was satisfactory for 52 sutures (81%). The complications were malacia in 2 cases, stenoses treated with a stenting device in 4 cases, dehiscence in 6 cases. The duration of ischemia and post-operative mechanical respiratory support, as well as the proximal or distal site of the anastomosis appeared to be of significant prognostic value.

A female newborn with premature cranial synostosis and facial dysmorphism including bulging forehead, hypertelorism, downward slanting palpebral fissures, low set ears and a short nose with broad flattened nasal bridge, was shown to have the karyotype 46,XX,del(2)(q14q21). We suggest that the appearance of isolated or associated premature fusion of cranial sutures is related to a structural alteration of the long arm of chromosome 2.

An experience of three centers of genetic counselling (West France). The authors attempts to explain why in 9 cases the pregnancy was not terminated.

We report here the first case of a mosaic Down's syndrome in which both clones are trisomic for chromosome 21, one of them (90%) by a Robertsonian translocation (15;21) appearing de novo, and the other (10%) by an additional chromosome 21. Three hypotheses can explain the appearance of such a mosaic: that of a chimera formed by the fusion of two trisomy 21 zygotes, one of which had a Robertsonian translocation, the other an additional trisomy 21 zygote; that of a fusion between a chromosome 15 and a chromosome 21 in one of the early segmentation blastomeres of a trisomy 21 zygote; the more probable hypothesis of the occurrence of a fission at the break-attachment point of a Robertsonian translocation (15;21) in one of the cells arising from the early postzygotic divisions of a zygote which was a trisomy 21 by Robertsonian translocation (15;21).