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

In silico evaluation of antiviral activity of flavone derivatives and commercial drugs against SARS-CoV-2 main protease (3CLpro).

In this paper the in silco evaluation of the antiviaral activity against the current spread of severe acute respiratory syndrome novel coronavirus 2 (SARS-CoV-2) of several anti-viral components such as Chloroquine, Simeprevir, Lopinavir and a series of five natural and synthesized flavone derivative was investigated.Results of the molecular docking revealed that among of the five flavones studied and Chloroquine, Simeprevir and Lopinavir, three compounds correlate with a high affinity for the same binding sites with the major protein 3-chymotrypsin-like protease (3CLpro) and a small negative binding energy compared with the control N3 molecule in protein 6LU7 and the control WK1 molecule in protein 2OP9. This may disrupt the 3CLpro main protease function and efficiency

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

Evaluation of the impact of wastewater in the rural commune of Jmaa Moulblad on the bacteriological water quality of the Grou River (Rabat region, Morocco)

In the region of Rabat, shallow watercourses are currently threatened by the magnitude of urban and industrial discharges, mainly due to its growing demography and the continuous development of the agricultural and industrial sectors. This study aims to evaluate the impact of wastewater from the rural commune of Jmaa Moulblad on the bacteriological water qualityof the Grou River. In order to measure the pollution levels of this watercourse, our study focused on the enumeration of fecal contamination indicator bacteria such as total coliforms (TC), faecal coliforms (FC) and intestinal enterococci (EI), as well as the detection of salmonella. Water samples were taken by season during the 2016/2017 period at four stations on the Grou River. The results obtained describe a worrying state of the watercourse, particularly at the S2 station located directly at the mouth of the wastewater of the rural commune of Jmaa Moulblad which is rejected without prior treatment. If protective measures are not taken, the perpetual degradation of the quality of these waters would certainly lead to the loss of this watercourse, which is of paramount importance in the region.

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

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

Deciphering the SARS-CoV-2 Delta Variant: Antiviral Compound Efficacy by Molecular Docking, ADMET, and Dynamics Studies

This research was conducted to discover potential antiviral compounds effective against the Delta variant of SARS-CoV-2 through computational screening methods. Our investigation encompassed nine established antiviral medications—Ritonavir, Remdesivir, Lopinavir, Ivermectin, Favipiravir, Ribavirin, Clofoctol, Chlorpromazine, and Artemisinin—and a flavone derivative, 2-(4-((6-hydroxyhexyl)oxy)phenyl)-4H-chroman-4-one (4c). These compounds were evaluated for their binding affinity to the Delta variant’s spike protein and their stability within the complex. We also examined their ADMET profiles and pharmacokinetic properties. he study found that all compounds exhibited strong binding to key amino acid residues within the spike protein’s active site, potentially inhibiting the enzyme’s function. Binding energy values ranged from -3.966 to -6.392 kcal/mol for the for the known drugs, with the flavone derivative exhibiting the highest binding affinity of -7.895 kcal/mol and an optimal ADMET profile. Molecular dynamics simulations further confirmed the stability of the 4c-spike protein complex. Our results indicate that the flavone derivative 4c is a promising lead for the development of novel antiviral therapies targeting the Delta variant of SARS-CoV-2