[Neonatal cyanosis due to fetal hemoglobin M-Osaka]. / Cyanose néonatale due à une hémoglobine fœtale M-Osaka.

The case of a newborn with isolated neonatal cyanosis on day 1 is reported. The basic investigations were sufficient to reach the diagnosis. A rare abnormal fetal hemoglobin was isolated. The prognosis of this disease is excellent and self-resolving.

Systematic resequencing of X-chromosome synaptic genes in autism spectrum disorder and schizophrenia.

Autism spectrum disorder (ASD) and schizophrenia (SCZ) are two common neurodevelopmental syndromes that result from the combined effects of environmental and genetic factors. We set out to test the hypothesis that rare variants in many different genes, including de novo variants, could predispose to these conditions in a fraction of cases. In addition, for both disorders, males are either more significantly or more severely affected than females, which may be explained in part by X-linked genetic factors. Therefore, we directly sequenced 111 X-linked synaptic genes in individuals with ASD (n = 142; 122 males and 20 females) or SCZ (n = 143; 95 males and 48 females). We identified >200 non-synonymous variants, with an excess of rare damaging variants, which suggest the presence of disease-causing mutations. Truncating mutations in genes encoding the calcium-related protein IL1RAPL1 (already described in Piton et al. Hum Mol Genet 2008) and the monoamine degradation enzyme monoamine oxidase B were found in ASD and SCZ, respectively. Moreover, several promising non-synonymous rare variants were identified in genes encoding proteins involved in regulation of neurite outgrowth and other various synaptic functions (MECP2, TM4SF2/TSPAN7, PPP1R3F, PSMD10, MCF2, SLITRK2, GPRASP2, and OPHN1).

Rare mutations in N-methyl-D-aspartate glutamate receptors in autism spectrum disorders and schizophrenia.

Pharmacological, genetic and expression studies implicate N-methyl-D-aspartate (NMDA) receptor hypofunction in schizophrenia (SCZ). Similarly, several lines of evidence suggest that autism spectrum disorders (ASD) could be due to an imbalance between excitatory and inhibitory neurotransmission. As part of a project aimed at exploring rare and/or de novo mutations in neurodevelopmental disorders, we have sequenced the seven genes encoding for NMDA receptor subunits (NMDARs) in a large cohort of individuals affected with SCZ or ASD (n=429 and 428, respectively), parents of these subjects and controls (n=568). Here, we identified two de novo mutations in patients with sporadic SCZ in GRIN2A and one de novo mutation in GRIN2B in a patient with ASD. Truncating mutations in GRIN2C, GRIN3A and GRIN3B were identified in both subjects and controls, but no truncating mutations were found in the GRIN1, GRIN2A, GRIN2B and GRIN2D genes, both in patients and controls, suggesting that these subunits are critical for neurodevelopment. The present results support the hypothesis that rare de novo mutations in GRIN2A or GRIN2B can be associated with cases of sporadic SCZ or ASD, just as it has recently been described for the related neurodevelopmental disease intellectual disability. The influence of genetic variants appears different, depending on NMDAR subunits. Functional compensation could occur to counteract the loss of one allele in GRIN2C and GRIN3 family genes, whereas GRIN1, GRIN2A, GRIN2B and GRIN2D appear instrumental to normal brain development and function.

[Severe multiorgan psittacosis in a 10-year-old boy]. / Psittacose sévère multiviscérale chez un garçon de dix ans.

UNLABELLED: Psittacosis is rare among children and severe cases appear exceptional. We describe a child with psittacosis and multiorgan involvement. CASE REPORT: T., a ten-year-old boy, was admitted for a prolonged fever associated with meningism. Laboratory tests showed an important inflammatory response, mild renal failure and coagulation disorders. On admission, the chest X-Ray and the cerebrospinal fluid were normal. He rapidly developed shock, acute abdomen, oxygenodependency, pneumonia and bilateral pleural effusion. No improvement was observed after 48 hours of cefotaxime therapy. History revealed the presence of two parrots at home. Treatment by intravenous clarithromycin was therefore initiated. Serology for Chlamydia psittaci was strongly positive. All symptoms disappeared a few days later. CONCLUSION: The case reported was particular for two reasons: severe disease with multi-organ involvement and young age of the patient. We emphasize the need to search for a history of contact with birds in any case of unexplained pneumonia.

[Orange colored cells in the amniotic fluid. Statistical evaluation of 504 samples]. / Les cellules orangées du liquide amniotique. Exploitation statistique de 504 prélèvements.

The authors have made a statistical evaluation of 504 estimations of the percentage of orange coloured cells in the liquor amnii. They have been able to draw up a curve of the means which confirms the value of this method. Orange coloured cells of fetal origin first appear after about 28 to 30 weeks. The rise in the percentage which is gradually progressive between the 30th and 37th weeks becomes sharp at the 38th week. The gradients of the curve of the means between the 37th and 38th week is comparable to that of the ratio lecithin/sphingomyelin. It is different from that of creatinaemia which is steeper. False-positive results are rare: at 2 p. 100 they seem to correspond to an advance in fetal maturation which may be spontaneous or may be brought about by treatment. False-negative results are commomer: 13 p. 100. The percentage of orange coloured cells should be viewed in conjunction with other tests for maturity. The technique is simple but the results may be vitiated by the minutae of preservation, of taking or of staining the cells which are described. Orange coloured cells maintain their value in pathological pregnancies and in particular in those where the fetuses are small for dates, for the percentage of orange coloured cells agrees more with the age of the fetus than with its weight.