“Genetic mechanisms have been implicated as a cause of som


“Genetic mechanisms have been implicated as a cause of some cases of male infertility. Recently, 10 novel genes involved in human spermatogenesis were identified by microarray analysis of human testicular tissue. One of these is spermatogenesis-associated 17 (SPATA17). To investigate whether defects

in the SPATA17 gene are associated with azoospermia due to meiotic arrest, a mutational analysis was conducted, in which the SPATA17 coding regions of 18 Japanese patients with this condition were sequenced. A statistical analysis was carried out that included 18 patients with meiotic arrest, 20 patients with Sertoli-cell-only syndrome (SCOS) and 96 healthy control men. No mutations were found in SPATA17. However, three coding single nucleotide polymorphisms (cSNPs: SNP1-SNP3) were detected in the patients with meiotic arrest. No significant differences Galardin in the genotype or allele frequencies of SNP1 and SNP2 were found between patients with meiotic arrest and the others. However, the frequency of the SNP3 allele

was significantly elevated in the meiotic arrest group (P < 0.05). This study suggests that SPATA17 selleck products may play a critical role in human spermatogenesis, especially in meiosis.”
“Children with autistic spectrum disorder are known to have histopathological abnormalities in the cerebellum. Diffusion tensor imaging has been utilized to study abnormalities in connectivity and microintegrity in brains of such children. A region of interest approach was adopted to study cerebellar outflow and inflow pathways in 27 children (24 males; mean age, 5.0 years) with autism, and comparison was made with 16 normally developing controls. An increase in the mean diffusivity of bilateral superior cerebellar peduncles in those with autistic spectrum disorder was noted, as was a reversal of the asymmetry pattern in fractional anisotropy of the middle cerebellar peduncle and the inferior cerebellar peduncle in the autistic spectrum disorder group, compared with

controls. This study reiterates the underconnectivity between the cerebellum and neocortex, using diffusion AZD6094 tensor imaging.”
“Background: Variant surface antigens (VSA) expressed on the surface of Plasmodium falciparum-infected red blood cells constitute a key for parasite sequestration and immune evasion. In distinct malaria pathologies, such as placental malaria, specific antibody response against VSA provides protection. This study investigated the antibody response specifically directed against VSA expressed by parasites isolated from individuals presenting a given type of clinical presentation.

Methods: Plasma and isolates were obtained from four groups of Beninese subjects: healthy adults, patients presenting uncomplicated malaria (UM), cerebral malaria (CM), or pregnancy-associated malaria (PAM).

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