[Ultrasound scan of a fetus with facial cleft must be done from the lip to the uvula]. / L'examen échographique d'un fœtus porteur d'une fente faciale doit se faire depuis la lèvre supérieure jusqu'à la luette.

Facial cleft are the most frequent craniofacial anomalies with an incidence of one for 1000 births, all births combined, and require specialized multidisciplinary care. Since 2005, the systematic realization of two ultrasound views (nose-lip and profile) is recommended for the exploration of the fetal face in the 2nd trimester of pregnancy. Application of these recommendations should allow screening of the majority of cleft lip and palate. However, cleft palates, without labiomaxillary involvement, are currently largely underdiagnosed at prenatal ultrasound, although they can be associated with a syndromic diagnosis in up to 30% of cases. The aim of this work is to describe, from embryology to surgical consultation, the complete ultrasound examination of a fetus with a classic facial cleft.

The evolutionary fate of the chloroplast and nuclear rps16 genes as revealed through the sequencing and comparative analyses of four novel legume chloroplast genomes from Lupinus.

The Fabaceae family is considered as a model system for understanding chloroplast genome evolution due to the presence of extensive structural rearrangements, gene losses and localized hypermutable regions. Here, we provide sequences of four chloroplast genomes from the Lupinus genus, belonging to the underinvestigated Genistoid clade. Notably, we found in Lupinus species the functional loss of the essential rps16 gene, which was most likely replaced by the nuclear rps16 gene that encodes chloroplast and mitochondrion targeted RPS16 proteins. To study the evolutionary fate of the rps16 gene, we explored all available plant chloroplast, mitochondrial and nuclear genomes. Whereas no plant mitochondrial genomes carry an rps16 gene, many plants still have a functional nuclear and chloroplast rps16 gene. Ka/Ks ratios revealed that both chloroplast and nuclear rps16 copies were under purifying selection. However, due to the dual targeting of the nuclear rps16 gene product and the absence of a mitochondrial copy, the chloroplast gene may be lost. We also performed comparative analyses of lupine plastomes (SNPs, indels and repeat elements), identified the most variable regions and examined their phylogenetic utility. The markers identified here will help to reveal the evolutionary history of lupines, Genistoids and closely related clades.

[Ultrasonography of fetal esophagus: healthy appearance and prenatal diagnosis of a case of esophagus atresia with esotracheal fistula]. / Echographie de l'oesophage foetal: aspect physiologique et application au dépistage anténatal d'une atrésie oesophagienne.

The thoracic part of a fetal esophagus is generally overlooked by usual prenatal ultrasonography. However, screening it might improve the detection rate of esophageal malformations for which prenatal diagnosis remains far from accurate. In this article, we describe the technique which makes it possible to get a precise image of a fetal thoracic esophagus in its more sensitive part: between the trachea and the aorta. After describing the appearance of a healthy thoracic esophagus, we will show how this technique can be used for prenatal detection of esophagus malformations. For this purpose, we provide the case report of a prenatal diagnosis of esophagus atresia with esotracheal fistula.

[Linear insertion of the atrioventricular valves without defect]. / Insertion linéaire des valves atrioventriculaires sans défect. A propos d'une nouvelle série anatomique de 213 coeurs de foetus trisomiques 21.

On a first anatomical series of 52 hearts of trisomic 21 fetuses, published in June 2002, we described a new minor cardiac anomaly, belonging to the atrioventricular septal defect, with a linear insertion of the atrioventricular valves without defect. We want to confirm these data, on a larger series of 213 new hearts of trisomic 21 fetuses by adding a complementary section to the standard examination; 100% of controls have shown a normal insertion with an offsetting of the atrioventricular valves. On 113 out of these 213 hearts of trisomic 21 fetuses, with a so called "normal" heart at the standard examination showing no defect, the complementary section has shown that only 37.2% of these hearts have a normal insertion, whereas 62.83% show a linear insertion, without offsetting and without any septal defect. This linear insertion has been observed in all the different types of atrioventricular septal defect as a good hallmark for trisomy 21; but, since then, they have always been described associated with a septal defect, atrial or ventricular. Our hypothesis is that the linear insertion of the atrioventricular valves without defect is the minor form of the atrioventricular septal defect spectrum, taking place between the prior described partial types of atrioventricular septal defect, in which there is always a defect (ostium primum type atrial septal defect or inflow type ventricular septal defect), and the real normal heart. A precise description of the level of the complementary section and of the anatomic peculiarities of the linear insertion of the atrioventricular valves without defect would help its screening in fetal ultrasonography.

[Enterobacteriaceae isolated in nine general hospitals of the Ile-de-France in 1988 and 1989: susceptibility to beta-lactam antibiotics according to the length of hospitalisation]. / Sensibilité aux bêtalactamines en fonction de la durée d'hospitalisation des entérobactéries isolées dans neuf hôpitaux généraux d'Ile-de-France en 1988 et 1989.

Susceptibility to beta-lactam antibiotics of strains of Enterobacteriaceae consecutively isolated in nine general hospitals during a period of 2 months (march and april) has been studied by the disk-agar diffusion method. The separation between susceptible and resistant strains was based on the measure of the inhibition zones centered by 2 disks: cephalothin and ticarcillin. Enterobacteriaceae were divided in 2 groups: strains isolated during the first 48 h of hospitalisation or isolated after. Fifty one per cent of the strains were isolated during the first 48 h: they did not belong to the residential flora of these hospitals. Klebsiella, Proteus indole positive, Providencia, Enterobacter, Serratia were more frequently isolated after 48 h of hospitalisation. Susceptible strains of Klebsiella, Proteus indole positive, Providencia, Serratia were more rarely isolated after 48 h of hospitalisation. E. coli whatever the duration of hospitalisation, is the less frequent susceptible bacterium.

[Value of the estimation of gliofibrillary acid protein in the diagnosis of glial tumours (author's transl)]. / Protéine gliofibrillaire acide. Intérêt de son dosage pour le diagnostic des tumeurs gliales. 6 observations.

Glial Fibrillary Acidic Protein (G.F.A.P.) is characteristic of astrocytes. Its estimation in a tumour fragment removed surgically may be used to confirm whether or not a cerebral tumour is glial in nature. This was confirmed here by study of 6 cases. G.F.A.P. levels were normal only in the 2 patients whose cerebral tumours were not glial. It remains to be determined whether this estimation may be used to define a particular treatment or prognosis.

[Immunological diagnosis of echinococcosis. A study of 146 cases, including 8 with bone involvement (author's transl)]. / Diagnostic immunologique de l'échinococcose. Etude de 146 cas dont 8 localisations osseuses.

After a study about 146 cases of echinococcosis which 8 osseous localizations, indirect immunofluorescence reactions and immunoprecipitation reactions allow for comparing between right immunologic answers in hydatid cyst of liver and hydatid cyst of bone. The right immunogenicity of osseous hydatid cyst can be explained by a close contact host-parasite and by a good vascularization and a good fertility.

[Myotonic dystrophy severity (Steinert's disease) (author's transl)]. / La gravité de la dystrophie myopathique myotonique de Steinert.

Four family cases of Steinert, myodystrophy are reported. The severity of the early onset form is specially noted. This form presents pulmonary complications and mental deficit. The influence of the myodystrophy on the pregnancy is discussed and an explanation of the disturbance of the oesophaguspharynx motility is presented. Physiopathogenesis problems of the Steinert's disease are noted.

[Bismuth encephalopathy in pregnant women. Apropos of a case]. / L'encéphalopathie bismuthique chez la femme enceinte A propos d'une observation

A case of bismuth encephalopathy in a pregnant woman is reported. The neurological picture, characterized especially by myoclonic attacks, is no different from that found in the non-pregnant state. The principal observations are on three points: - the need to think of a toxic origin of convulsions in pregnancy, - the onset of threatened premature labour during repeated convulsive crises, - the passage of bismuth across the placenta : this has been proved by the levels found in the amniotic fluid (55 mcg per 1,000) and in the cord blood (320 mcg per 1,000). The child, who was normal at birth, developed a transient hypotonus which seemed attributable more to the treatment of the mother with Diazepam and pheno-barbitone than to her having taken bismuth during the pregnancy.

[Subacute spongiform encephalopathy and Creutzfeldt-Jakob disease. Apropos of 1 case]. / Encéphalopathie spongiforme subaiguë et maladie de Creutzfeldt-Jakob. A propos d'un cas

The authors describe a case of sub-acute spongiform encephalopathy with an ultrastructural study in a man of 65 with associated dementia, extra-pyramidal syndrome, myoclonia, optical disorders, pyramidal syndrome and speech disorders, rapidly leading to death one and a half months later. Electroencephalograms were at first disorganized with persistent delta and theta activity and only in the last record did short runs of repetitive activity appear. Histologically, there was severe status spongiosus, a moderate degree of neuronal depopulation with a noticeable astrocytary gliosis. Under the electron microscope, the neuropile in the astrocytes was found to be pitted with numerous cavities and so were, to a lesser extent, the axonal projections. The vessels were normal. Nothing was found to indicate viral structures. Attention is drawn to the nosological connection between this type of observation and Creutzfeldt-Jakob disease.