revealing-the-ferroptotic-phenotype-of-medulloblastoma

Revealing the Ferroptotic Phenotype of Medulloblastoma

The interaction of iron and oxygen is an integral part of the development of life on Earth. Nonetheless, this unique chemistry continues to fascinate and ...

Centre Scientifique de Monaco (CSM)

[Skin ulcers indicative of visceral tuberculosis].

[Serious materno-fetal alloimmunization: about a case and review of the literature].

Fresnes prison is one of the largest penitentiary centres in France (around 2300 inmates). Since dermatological consultations are not possible on site, a teledermatology agreement was signed in 2008 between the Kremlin-Bicêtre hospital, used by the Fresnes consultation unit and outpatient care (UCSA) and the Saint-Louis hospital for remote dermatological expertise. We report the results of the last 3 years of teledermatology activity in this prison.

[Teledermatology in a prison setting: A retrospective study of 500 expert opinions].

Pierson syndrome (PS) is a rare autosomal recessive disorder, caused by mutations in the laminin β2 (LAMB2) gene. It is characterized by congenital nephrotic syndrome, microcoria, and neurodevelopmental deficits. Several mutations with genotype-phenotype correlations have been reported, often with great clinical variability. We hereby report a novel homozygous nonsense mutation in the LAMB2 gene, associated with a severe phenotype presentation.

A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome.

[Authors'response to the letter on the article "Teledermatology in a prison setting: A retrospective study of 500 expert opinions"].

Early Infantile Epileptic Encephalopathy (known as Ohtahara Syndrome) is one of the most severe and earliest forms of epilepsy, characterized by early seizures onset. It affects newborns and children between two and six years old. Among the genes that have been associated with early infantile epileptic encephalopathy, the STXBP1 gene, which encodes the Syntaxin binding protein1a that is involved in SNARE complex formation, contributes to synaptic vesicles exocytosis. The aim of this study was to identify the most pathogenic polymorphisms of STXBP1 gene and determine their impact on the structure and stability of  protein. The high-risk nonsynonymous single nucleotide polymorphisms (nsSNPs) in the STXBP1 gene were predicted using 13 bioinformatics tools. The conservation analysis was realized by CONSURF web server. The analysis of the impact of the pathogenic SNPs on the structure of  protein was realized using YASARA software, and the molecular dynamics simulation was performed using GROMACS software. Out of 245 nsSNPs, we identified 11 (S42P, H103D R190W, R235G, D238E, L256P, P335S, C354Y, L365V, R406C, and G544D) as deleterious using in silico prediction tools. Conservation analysis results revealed that all these nsSNPs were located in conserved regions. The comparison of the hydrogen and hydrophobic interactions in the wild type  structure and its mutant forms showed that all these nsSNPs affect the protein structure on different levels. The molecular dynamics simulations revealed that the total of nsSNPs affect the protein stability, residual fluctuation, and the compaction at different levels. This study provides helpful information on high risk nsSNPs that may affect the  protein structure and function. Thus, these variants should be taken into consideration during the genetic screening of patients suffering from early infantile epileptic encephalopathy.

Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.

Partially hydrolyzed guar gum (PHGG) is a water-soluble fiber supporting digestive health with well-established safety and efficacy. This open-label, single-arm, multicenter trial aimed to assess the tolerability and safety of a semi-elemental enteral formula containing PHGG at 12 g/L in tube-fed young children.

Tolerability and safety of a semi-elemental enteral formula with partially hydrolyzed guar gum (PHGG) in tube-fed children aged 1-4 years: An open-label, single-arm study.

The routine work of any molecular biology laboratory includes the daily use of microorganisms, including strains of E. coli, transformed with a variety of plasmids expressing at least one antibiotic resistance gene (ARG). Therefore, to avoid the accidental release of ARGs into environmental water, methods for disinfection of liquid laboratory waste must be effective in destroying nucleic acids. In support of this recommendation, the origin of replication of Enterobacteriaceae plasmids has been detected in strains of non-Enterobacteriaceae bacteria isolated from wastewater from laboratories and research institutes, suggesting that interspecific transfer of laboratory plasmids had occurred. Using quantitative polymerase chain reaction, we determined the decimal reduction value (D value, expressed as concentration of disinfectant or length of physical treatment) of several decontamination methods for their DNA degradation effect on cultures of E. coli Top10 transformed with a kanamycin resistant plasmid (pET28A + or pEGFP-C2). The estimated D values were 0.7 M for sulfuric acid, 6.3% for a commercial P3 disinfectant, 25 min for steam sterilization at 121 °C, and 49 min for disinfection by UVC. A 20-min treatment of bacteria cultures with a final concentration of 1-10% sodium hypochlorite was found to be ineffective in completely destroying a bacteria plasmid gene marker (coding for the pBR322 origin of replication). Residual DNA from NaClO-treated cells was 60%, while it decreased under 10% using the commercial disinfectant P3 diluted at 5%. As the degradation was incomplete in both cases, we recommend avoiding discharge of disinfected liquid waste to wastewater (even after chemical neutralization) without additional plasmid destruction treatment, to prevent horizontal transfer of laboratory ARGs to environmental bacteria.

Prevention of horizontal transfer of laboratory plasmids to environmental bacteria: comparison of the effectiveness of a few disinfection approaches to degrade DNA.

Article	Year
[Skin ulcers indicative of visceral tuberculosis]. Annales de dermatologie et de venereologie\| PubMed ID: 19917445	2009
[Serious materno-fetal alloimmunization: about a case and review of the literature]. The Pan African medical journal\| PubMed ID: 26889318	2015
[Teledermatology in a prison setting: A retrospective study of 500 expert opinions]. Annales de dermatologie et de venereologie\| PubMed ID: 26971370	2016
A novel LAMB2 gene mutation associated with a severe phenotype in a neonate with Pierson syndrome. European journal of medical research\| PubMed ID: 27130041	2016
[Authors'response to the letter on the article "Teledermatology in a prison setting: A retrospective study of 500 expert opinions"]. Annales de dermatologie et de venereologie\| PubMed ID: 28739085	2017
Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease. BioMed research international\| PubMed ID: 31976320	2019
Tolerability and safety of a semi-elemental enteral formula with partially hydrolyzed guar gum (PHGG) in tube-fed children aged 1-4 years: An open-label, single-arm study. Clinical nutrition ESPEN\| PubMed ID: 37202073	2023
Prevention of horizontal transfer of laboratory plasmids to environmental bacteria: comparison of the effectiveness of a few disinfection approaches to degrade DNA. Environmental science and pollution research international\| PubMed ID: 37450185	2023

Boutaina Daher

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