Golabi-Ito-Hall syndrome results from a missense mutation in the WW domain of the PQBP1 gene

Background: Golabi, Ito, and Hall reported a family with X linked mental retardation (XLMR), microcephaly, postnatal growth deficiency, and other anomalies, including atrial septal defect, in 1984.Methods: This family was restudied as part of our ongoing study of XLMR, but significant linkage to X chromosome markers could not be found. Extreme short stature and microcephaly as well as other new clinical findings were observed. Mutations in the polyglutamine tract binding protein 1 gene (PQBP1) have recently been reported in four XLMR disorders (Renpenning, Hamel cerebro-palato-cardiac, Sutherland-Haan, and Porteous syndromes) as well as in several other families. The clinical similarity of our family to these patients with mutations in PQBP1, particularly the presence of microcephaly, short stature, and atrial septal defect, prompted examination of this gene.Results: A missense mutation in PQBP1 was identified which changed the conserved tyrosine residue in the WW domain at position 65 to a cysteine (p.Y65C).Conclusions: This is the first missense mutation identified in PQBP1 and the first mutation in the WW domain of the gene. The WW domain has been shown to play an important role in the regulation of transcription by interacting with the PPxY motif found in transcription factors. The p.Y65C mutation may affect the proper functioning of the PQBP1 protein as a transcriptional co-activator

Studies on selected biological parameters off Mithapur (Gujarat)

The biological characteristics off Mithapur, India, indicated fairly high productivity in terms of macrobenthos and phytoplankton pigment concentration. The area sustained low standing stock of zooplankton. The overall biological productivity of plankton and macrobenthos indicated 30-90% reduction from the premonsoon to postmonsoon period. This decline in the standing stock of plankton and benthos was coinciding with the peak fishing season of the area

Étude de la performance de la STEP du centre emplisseur de la société Salam Gaz – Skhirat, Maroc

Le présent travail a pour but de vérifier l’efficacité du fonctionnement de la STEP de la société Salam Gaz. Les eaux traitées sont réutilisées durant le procédé de production de la société. Les résultats de la caractérisation physicochimique des eaux usées brutes ont montré que les paramètres analysés dépassent les valeurs limites de rejets directes ou indirectes. Les valeurs moyennes en MES, DBO5 et DCO de l’eau brute sont respectivement 3429, 447 et 698 mg/L. Les rendements d’éliminations des paramètres MES, DCO et DBO5 par la STEP sont respectivement 99%, 86%, et 84% alors que l’abattement de la teneur en chrome, cuivre, cadmium et plomb dépasse 90%. Ceci montre que la STEP fonctionne correctement. Toutefois, des améliorations sont nécessaires pour améliorer d’avantages la performance de la STEP. En outre, les eaux usées épurées ont montré un pH acide variant autour de 5 ce qui nécessite une optimisation de la dose du coagulant injecté et une neutralisation avant rejet des eaux traitées dans le milieu récepteur.Mots-clés : eaux usées, diagnostic, performances, recyclage, Salam Gaz – Skhirat, Maroc.Study of the performance of the WWTP filling station company Salam Gas - Skhirat MoroccoThe present work designed to verify the operating effectiveness of society Step Salam Gas. The treated water is reused in the production process of the company. The characterization results at selected tapping points show that the majority of the analyzed parameters exceed the limit values for discharges. The mean values of TSS, BOD5 and COD of raw water are respectively 3429, 447 and 698 mg/l. Yields eliminations parameters TSS, COD and BOD5 by STEP are respectively 99%, 86% and 84% while the reduction of chromium, copper, cadmium and lead in excess of 90%. This shows that STEP is working properly. However, improvements are needed to improve the performance benefits of STEP. In addition, the treated wastewater showed an acidic pH ranging around 5 which requires an optimization of the dose of coagulant injection and neutralization prior to discharge treated wastewater into the receiving environment.Keywords : Wastewater, diagnostic, performance, recycling performance, Salam Gaz – Skhirat, Morocco

HIV-1 subtype A gag variability and epitope evolution

Objective: The aim of this study was to examine the course of time-dependent evolution of HIV-1 subtype A on a global level, especially with respect to the dynamics of immunogenic HIV gag epitopes.Methods: We used a total of 1,893 HIV-1 subtype A gag sequences representing a timeline from 1985 through 2010, and 19 different countries in Africa, Europe and Asia. The phylogenetic relationship of subtype A gag and its epidemic dynamics was analysed through a Maximum Likelihood tree and Bayesian Skyline plot, genomic variability was measured in terms of G → A substitutions and Shannon entropy, and the time-dependent evolution of HIV subtype A gag epitopes was examined. Finally, to confirm observations on globally reported HIV subtype A sequences, we analysed the gag epitope data from our Kenyan, Pakistani, and Afghan cohorts, where both cohort-specific gene epitope variability and HLA restriction profiles of gag epitopes were examined. Results: The most recent common ancestor of the HIV subtype A epidemic was estimated to be 1956 ± 1. A period of exponential growth began about 1980 and lasted for approximately 7 years, stabilized for 15 years, declined for 2-3 years, then stabilized again from about 2004. During the course of evolution, a gradual increase in genomic variability was observed that peaked in 2005-2010. We observed that the number of point mutations and novel epitopes in gag also peaked concurrently during 2005-2010. Conclusion: It appears that as the HIV subtype A epidemic spread globally, changing population immunogenetic pressures may have played a role in steering immune-evolution of this subtype in new directions. This trend is apparent in the genomic variability and epitope diversity of HIV-1 subtype A gag sequences

Fibrosarcome du larynx - A propos d'un cas

Le fibrosarcome du larynx est une entité histologique rare, qui représente moins de 10% de tous les sarcomes des tissus mous, moins de 2 % des cancers laryngés. Cette localisation pose des problèmes diagnostique, thérapeutique et pronostique. Nous présentons un cas de fibrosarcome laryngé chez un patient de 54 ans. La confirmation histologique etimmunohistologique a été faite sur la pièce d’exérèse chirurgicale et surtout sur une confrontation anatomoclinique. La prise en charge thérapeutique est multidisciplinaire, associant la chirurgie qui doit être la plus complète sans curage ganglionnaire et la radiothérapie. Le pronostic est généralement sévère, dépend essentiellement de degré de différenciation histologique.Mots clés : fibrosarcome ; larynx ; chirurgie ; radiothérapie

Controlling for openness in the male-dominated collaborative networks of the global film industry.

Studies of gender inequality in film industries have noted the persistence of male domination in creative roles (usually defined as director, producer, writer) and the slow pace of reform. Typical policy remedies are premised on aggregate counts of women as a proportion of overall industry participation. Network science offers an alternative way of identifying and proposing change mechanisms, as it puts emphasis on relationships instead of individuals. Preliminary work on applying network analysis to understand inequality in the film industry has been undertaken. However, in this study we offer a comprehensive approach that enables us to not only understand what inequality in the film industry looks like through the lens of network science but also how we can attempt to address this issue. We offer a data-driven simulation framework that investigates various what-if scenarios when it comes to network evolution. We then assess each of these scenarios with respect to its potential to address gender inequality in the film industry. As suggested by previous studies, inequality is exacerbated when industry networks are most closed. We review evidence from three different national film industries on network relationships in creative teams and identify a high proportion of men who only work with other men. In response to this observation, we test several mechanisms through which industry structures may generate higher levels of openness. Our results reveal that the most critical factor for improving network openness is not simply the statistical improvement of the number of women in a network, nor the removal of men who do not work with women. The most likely behavioural changes to a network will involve the production of connections between women and powerful men