Increased expression of BDNF mRNA in the frontal cortex of autistic patients.

Autistic spectrum disorders (ASDs) are neurodevelopmental disorders for which genetic components have been well defined. However, specific gene deregulations related to synapse function in the autistic brain have not been as extensively described. Based on a candidate genes approach, we present in this study the expression data of 4 transcripts of interest (BDNF, CAMK2a, NR-CAM and RIMS1) located at the synapse in two regions of interest in the context of the ASDs; the lobule VI of cerebellum and the Brodmann area 46.

Netrin G1: its downregulation in the nucleus accumbens of cocaine-conditioned mice and genetic association in human cocaine dependence.

Netrin G1 is a presynaptic ligand involved in axonal projection. Although molecular mechanisms underlying cocaine addiction are still poorly understood, Netrin G1 might have a role as a regulator of anxiety, fear and spatial memory, behavioural traits impaired in the context of cocaine exposure. In this study, the Netrin G1 (Ntng1) expression was investigated in the nucleus accumbens of mice primarily conditioned to cocaine using a place preference paradigm.

Ibuprofen can induce syndrome of inappropriate diuresis in healthy young patients.

A 30-year-old caucasian woman, without past medical history or known drug use, was admitted to the emergency department for persistent fever and arthralgias. The laboratory analysis showed moderate hypoosmolar hyponatremia (Na: 132 mmol/L, osmolality: 239 mOsm/L), normal sodium excretion (<20 mmol/L), and a high urinary osmolality (415 mOsm/L). Later, she deteriorated with seizures and deeper hyponatremia (Na: 113 mmol/L) and so was moved to the critical care unit.

Genetics of dopamine receptors and drug addiction.

Dopamine plays a key role in reward behavior, yet the association of drug dependence as a chronic, relapsing disorder with the genes encoding the various dopaminergic receptor subtypes remains difficult to delineate. In the context of subsequent genome-wide association (GWAS) research and post-GWAS investigations, we summarize the novel data that link genes encoding molecules involved in the dopaminergic system (dopamine receptors, transporter and enzymes in charge of its metabolism) to drug addiction. Recent reports indicate that the heritability of drug addiction should be high enough to allow a significant role for a specific set of genes, and the available genetic studies, which might not be already conclusive because of the heterogeneity of designs, methods and recruited samples, should support the idea of a significant role of at least one gene related to dopaminergic system.

[Severe lactic acidosis due to metformin: report of 3 cases].

Metformin, an oral antidiabetic drug, is the sole representative of the biguanide class available in France. Because of its beneficial effects on weight and cardiovascular level, it represents the standard treatment for type 2 diabetic obese patients. Lactic acidosis associated with metformin is a rare but serious complication that can occur in these patients, particularly when intercurrent episode promotes the accumulation of this molecule.

[Hemoglobinopathy. Laboratory diagnosis].

Hemoglobinopathies are the most common genetic diseases in the world. They are most frequent in areas where malaria is endemic. Sickle cell disease and severe thalassemia require prompt diagnosis.

Primate-accelerated evolutionary genes: novel routes to drug discovery in psychiatric disorders.

Novel molecular genetic approaches, at genome-scale in different species allowed characterizing genes that have undergone recent selection. The interest in this research field is not limited to the natural curiosity about our evolutionary past, but it is also to identify novel susceptibility genes for neuropsychiatic disorders by pointing specific human traits, such as behavioral and cognitive abilities. Hypotheses have been proposed to relate specific psychiatric disorders to the origin of modern humans, as evidenced by the theory of Crow about schizophrenia.

[Congenital hemolytic anemia due to glucose-6-phosphate dehydrogenase deficiency].

Glucose-6-phosphate dehydrogenase (G6PD) deficiency is a common enzyme defect with a wide range of clinical manifestations that can be severe. A variety of factors including many medications can induce hemolytic episodes. Screening for G6PD deficiency is required before use of some drugs especially primaquine or dapsone.

Persisting mixed cryoglobulinemia in Chikungunya infection.

Background: Chikungunya virus (CHIKV), an arbovirus, is responsible for a two-stage disabling disease, consisting of an acute febrile polyarthritis for the first 10 days, frequently followed by chronic rheumatisms, sometimes lasting for years. Up to now, the pathophysiology of the chronic stage has been elusive. Considering the existence of occasional peripheral vascular disorders and some unexpected seronegativity during the chronic stage of the disease, we hypothesized the role of cryoglobulins.

Convergent evidence identifying MAP/microtubule affinity-regulating kinase 1 (MARK1) as a susceptibility gene for autism.

Autism spectrum disorders (ASDs) are common, heritable, but genetically heterogeneous neurodevelopmental conditions. We recently defined a susceptibility locus for ASDs on chromosome 1q41-q42. High-resolution single-nucleotide polymorphisms (126 SNPs) genotyping across the chromosome 1q41-q42 region, followed by a MARK1 (microtubule affinity-regulating kinase 1)-tagged-SNP association study in 276 families with autism from the Autism Genetic Research Exchange, showed that several SNPs within the MARK1 gene were significantly associated with ASDs by transmission disequilibrium tests.

Nrxn3 upregulation in the globus pallidus of mice developing cocaine addiction.

Dysfunctions affecting the connections of basal ganglia lead to major neurological and psychiatric disorders. We investigated levels of mRNA for three neurexins (Nrxn) and three neuroligins (Nlgn) in the globus pallidus, subthalamic nucleus, and substantia nigra, in control conditions and after short-term exposure to cocaine. The expression of Nrxn2beta and Nlgn3 in the substantia nigra and Nlgn1 in the subthalamic nucleus depended on genetic background.

[New use of primaquine for malaria].

Primaquine is the only available drug to treat Plasmodium vivax liver stages (hypnozoites). It has been used for more than five decades and is now included in an increasing number of clinical guidelines. The major concern is induced hemolysis when administered to glucose-6-phosphate-dehydrogenase deficient patients.

SLC25A12 expression is associated with neurite outgrowth and is upregulated in the prefrontal cortex of autistic subjects.

Autism is a neurodevelopmental disorder with a strong genetic component, probably involving several genes. Genome screens have provided evidence of linkage to chromosome 2q31-q33, which includes the SLC25A12 gene. Association between autism and single-nucleotide polymorphisms in SLC25A12 has been reported in various studies.

[Analytical interference caused by monoclonal immunoglobulin M with cryoglobulin effect: a case report].

In biochemistry laboratory, monoclonal immunoglobulins are frequently found. They can lead to analytical interferences which are difficult to anticipate. In this case reports, a monoclonal immunoglobulin M with cryoglobulin effect has been responsible of false result of protein electrophoresis because of the whole precipitation of the monoclonal immunoglobulin.

Quantitative evaluation of collagen type VI and SOD gene expression in the nuchal skin of human fetuses with trisomy 21.

Objective: To investigate the involvement of the genes encoding for COL6A1, COLA2 and super-oxide dismutase (SOD) in the mechanism for the retention of subcutaneous fluid in fetuses with trisomy 21.

Methods: During a 7-month period (November 2004-May 2005), human fetal skin from the nuchal region was obtained from euploid fetuses and from fetuses with trisomy 21 following abortions and terminations of pregnancy. Cell cultures were performed from nuchal skin.

Molecular cloning and expression pattern of the Fkbp25 gene during cerebral cortical neurogenesis.

Neocortical neurons are generated predominantly from the cells that proliferate in the ventricular zone of the telencephalon. In order to understand the nature of these expanding cortical neuronal progenitor cells, we selected by differential display some transcripts that were enriched in the telencephalon as compared to the more caudal regions (diencephalon/mesencephalon). This systematic screening revealed one of the differentially expressed transcripts, namely the Fkbp25 mRNA that encodes a member of the FK506 binding proteins (FKBPs).

Expression pattern of NOGO and NgR genes during human development.

Nogo protein has been identified as the component of central nervous system (CNS) myelin that limits axonal regeneration. We investigated the expression of the genes encoding Nogo and its receptor, NgR, between weeks eight and 23 of human embryonic development, by quantitative radioactive in situ hybridization. At 8 weeks, we detected NOGO and NgR transcripts in developing neuronal and non-neuronal structures.

[Cryoglobulins: detection, type determination and quantitation. A study of healthy subjects and patients with chronic hepatitis C].

Cryoglobulins are immunoglobulins or immune complexes which precipitate at a temperature lower than 37 degrees C and re-dissolve when rewarmed. So their collection and processing are critical. We describe the methodology used in the biochemical laboratory of Military hospital Laveran (Marseille) for detection determination of type and quantitation of cryoglobulins.

[Cryoglobulinemia].

Cryoglobulins are immunoglobulins or immune complexes which precipitate at a temperature lower than 37 degrees C and redissolve when rewarmed. Cryoglobulins can be asymptomatic. When not, clinical features are in most cases cutaneous, renal or neurological.

Identification of a novel brain-specific and Reelin-regulated gene that encodes a protein colocalized with synapsin.

We carried out a screening of genes that are differentially expressed in normal mice and reeler mutants and are characterized by abnormal neuronal migration and neurite deployment due to defective Reelin signalling. A novel gene, provisionally named C61, was overexpressed in Reelin-deficient embryonic mouse brain RNA. C61 encodes a 3.