Study of the serotonin transporter (SLC6A4) and BDNF genes in French patients with non syndromic mental deficiency

<p>Abstract</p> <p>Background</p> <p>Mental deficiency has been linked to abnormalities in cortical neuronal network connectivity and plasticity. These mechanisms are in part under the control of two interacting signalling pathways, the serotonergic and the brain-derived neurotrophic (BDNF) pathways. The aim of the current paper is to determine whether particular alleles or genotypes of two crucial genes of these systems, the serotonin transporter gene (<it>SLC6A4</it>) and the brain-derived neurotrophic factor gene (<it>BDNF</it>), are associated with mental deficiency (MD).</p> <p>Methods</p> <p>We analyzed four functional polymorphisms (rs25531, 5-HTTLPR, VNTR, rs3813034) of the <it>SLC6A4 </it>gene and one functional polymorphism (Val66 Met) of the <it>BDNF </it>gene in 98 patients with non-syndromic mental deficiency (NS-MD) and in an ethnically matched control population of 251 individuals.</p> <p>Results</p> <p>We found no significant differences in allele and genotype frequencies in the five polymorphisms studied in the <it>SLC6A4 </it>and <it>BDNF </it>genes of NS-MD patients versus control patients. While the comparison of the patterns of linkage disequilibrium (D') in the control and NS-MD populations revealed a degree of variability it did not, however, reach significance. No significant differences in frequencies of haplotypes and genotypes for VNTR/rs3813034 and rs25531/5-HTTLPR were observed.</p> <p>Conclusion</p> <p>Altogether, results from the present study do not support a role for any of the five functional polymorphisms of <it>SLC6A4 </it>and <it>BDNF </it>genes in the aetiology of NS-RM. Moreover, they suggest no epistatic interaction in NS-MD between polymorphisms in <it>BDNF </it>and <it>SLC6A4</it>. However, we suggest that further studies on these two pathways in NS-MD remain necessary.</p

Autism and Intellectual Disability Are Differentially Related to Sociodemographic Background at Birth

Background: Research findings investigating the sociodemographics of autism spectrum disorder (ASD) have been inconsistent and rarely considered the presence of intellectual disability (ID). Methods: We used population data on Western Australian singletons born from 1984 to 1999 (n = 398,353) to examine the sociodemographic characteristics of children diagnosed with ASD with or without ID, or ID without ASD compared with non-affected children. Results: The profiles for the four categories examined, mild-moderate ID, severe ID, ASD without ID and ASD with ID varied considerably and we often identified a gradient effect where the risk factors for mild-moderate ID and ASD without ID were at opposite extremes while those for ASD with ID were intermediary. This was demonstrated clearly with increased odds of ASD without ID amongst older mothers aged 35 years and over (odds ratio (OR) = 1.69 [CI: 1.18, 2.43]), first born infants (OR = 2.78; [CI: 1.67, 4.54]), male infants (OR = 6.57 [CI: 4.87, 8.87]) and increasing socioeconomic advantage. In contrast, mild-moderate ID was associated with younger mothers aged less than 20 years (OR = 1.88 [CI: 1.57, 2.25]), paternal age greater than 40 years (OR = 1.59 [CI: 1.36, 1.86]), Australian-born and Aboriginal mothers (OR = 1.60 [CI: 1.41, 1.82]), increasing birth order and increasing social disadvantage (OR = 2.56 [CI: 2.27, 2.97]). Mothers of infants residing in regional or remote areas had consistently lower risk of ASD or ID and may be linked to reduced access to services or underascertainment rather than a protective effect of location. Conclusions: The different risk profiles observed between groups may be related to aetiological differences or ascertainment factors or both. Untangling these pathways is challenging but an urgent public health priority in view of the supposed autism epidemic

Existence of a lens-shaped cluster of surfaces self-shrinking by mean curvature

We rigorously show the existence of a rotationally and centrally symmetric "lens-shaped" cluster of three surfaces, meeting at a smooth common circle, forming equal angles of 120 degrees, self-shrinking under the motion by mean curvature.Comment: 22 pages, 2 figure

Waste treatment and nutrient removal by high rate algae ponds

Meeting: Workshop on High Rate Algae Ponds, 27-29 Feb. 1980, Singapore, SGIn IDL-306

Twenty-day cerebral and umbilical Doppler monitoring on a growth retarded and hypoxic fetus1

In one growth retarded and hypoxic fetus, the cerebral and umbilical hemodynamic changes were assessed (by Doppler), daily over 20 days. The fetal brain was investigated by magnetic resonance imaging (MRI) close to the delivery, and because the fetus died at delivery we performed an anatomical study of the fetal brain. The evolution of the fetal hemodynamics (day by day) was interpreted according to the MRI findings and the clinical findings. During the period of observation (under sustained hypoxia) the fetal deterioration was characterized by: (a) the progressive development of the oligohydramnios (190d), (b) the disappearance of the vascular reactivity (eight successive cerebral resistance index (RI) constant at 194d), (c) the occurrence of fetal heart rate decelerations (199d), and finally (d) the increase of the cerebral vascular resistances with reduction of the brain perfusion (204d). The anatomical study of the brain showed a periventricular congestion however the histology revealed hypoxic lesions like gliosis and a marked vasodilation of the anterior and middle cerebral arteries. Finally in addition to single Doppler measurements performed 1 week before delivery (for prediction of fetal outcome), one can suggest to use the 'loss of fluctuation of the cerebral RI' to identify the beginning of the period of very high risk for the fetus. Such hypothesis may have to be confirmed on a larger number of pathological pregnancie

GEWINNUNG MIKROBIELLER BIOMASSE ALS NEBENPRODUKT DER ABWASSERBEHANDLUNG IN ALGENGRÄBEN

In the course of an Israeli-German Project concerning photosynthetic treatment of domestic sewage the "Intensive Algal Wastewater Treatment System (IAWIS)" was developed from existing high-rate pond technology. An IAWIS demonstration plant near Haifa was operated for several years, rendering effluent of high quality. Several tons of algae-bacteria biomass were recovered as a byproduct containing about 50 % of crude protein. Extended feeding tests and toxicological studies in animals proved the microbial biomass to be a suitable feed ingredient. Experiments with high-rate sewage oxidation ponds in the Federal Republic of Germany concerned the treatment of the liquid phase of piggery waste. The removal of BOD, , N and P was efficient, proceeding, however, at lower rate in winter, especially with respect to P removal rate. In order to conserve energy, concentrated liquid wastes should rather be treated by anaerobic/aerobic multistage processes in which high-rate oxidation ponds may be used as the aerobic step. Excess quantities of liquid manure are suggested as target substrates. Improved removal of COD is one of the aims of ongoing studies

TATA-BOX at a Glance

In this chapter we present very briefly the main framework used to establish the TATA-BOX project and the general methodology developed to codesign the territorial agroecological transition

Lymphoedema: What can be measured and how. overview

SCOPUS: re.jinfo:eu-repo/semantics/publishe