Categorization of differences of sex development among Egyptian children and the role of antimullerian hormone and inhibin B

BackgroundDifferences of sex development (DSD) are congenital conditions linked to atypical development of chromosomal, gonadal, or anatomical sex.ObjectiveThe aim of this study was to demonstrate our experiences at the Diabetes Endocrine and Metabolism Pediatric Unit (DEMPU), Faculty of Medicine, Cairo University in the field of DSD by focusing on the clinical presentation, laboratory profile, classification, and etiological diagnosis of these conditions. In addition, the present study intended to delineate the importance of serum anti-Müllerian hormone (AMH) and inhibin B in detecting the presence of functioning testicular tissue.MethodsThis cohort study included 451 infants and children with various clinical presentations of DSD. The study performed a retrospective analysis on medical records of established DSD cases to evaluate the clinical importance of AMH and inhibin B. In addition, newly diagnosed patients were prospectively analyzed.ResultsThree hundred thirty-six (74.5%) patients were 46,XY DSD, 98 (21.7%) were 46,XX DSD, 14 patients had other karyotypes and 3 had missing karyotypes. Among the 46XY DSD patients, the most common cause was partial androgen insensitivity. In contrast, congenital adrenal hyperplasia constituted the most common diagnosis in 46,XX DSD cases. The cut off value of serum AMH was 14.5 ng/ml with 100% sensitivity and 55.1% specificity.ConclusionPartial androgen insensitivity was the most important cause of 46,XY DSD in Egyptian children, and congenital adrenal hyperplasia was the most common cause of 46,XX DSD. AMH was valuable in detecting functioning testicular tissue

Results of the Ontology Alignment Evaluation Initiative 2021

The Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity and use different evaluation modalities (e.g., blind evaluation, open evaluation, or consensus). The OAEI 2021 campaign offered 13 tracks and was attended by 21 participants. This paper is an overall presentation of that campaig

Evaluating the role of the hepatitis C virus in the pathogenesis of Hodgkin's lymphoma in Egyptian patients

Background Hepatitis C is an infection caused by a virus that attacks the liver and leads to inflammation. Several studies from Europe have reported a high prevalence of hepatitis C virus (HCV) infection in patients with non-Hodgkin's lymphoma. It has been suggested that HCV plays a role in the pathogenesis of B-cell non-Hodgkin's lymphoma (B-NHL). The aim of our study was to determine the prevalence of HCV infection in patients with B-NHL in the Egyptian population and to compare it with apparently healthy volunteers (as a control group). Patients and methods The current study was carried out on 50 patients diagnosed with B-NHL (as a patient group) as well as 35 healthy individuals (as a control group). HCV status was evaluated by the detection of anti-HCV antibodies using the enzyme-linked immunosorbent assay (ELISA) technique as well as the detection of HCV RNA by a reverse transcription PCR (RT-PCR). Results In terms of the Results of anti-HCV antibodies by ELISA, 26 of 50 patients (52%) were positive in patients with B-NHL compared with 10 of 35 cases (28.6%) in the control group (P=0.0541). HCV RNA detection by RT-PCR was positive in 30 of 50 patients (60%) with B-cell lymphoma compared with 15 of 35 patients (42.9%) in the control group (P=0.1823). Conclusion In Conclusion , the Results of our study show that there is a higher incidence of HCV infection in B-NHL patients compared with apparently healthy individuals. This supports the suspected role of HCV in the pathogenesis and etiology of B-NHL

Role of glutathione S-transferases polymorphisms and monocyte CD64 expression in Egyptian patients with systemic lupus erythematosus

Aim of work: To study the genetic variants of glutathione S-transferases and monocyte CD64 expression in systemic lupus erythematosus patients and to evaluate their role in disease susceptibility, activity and damage. Patients and methods: Forty female SLE patients and 40 age matched controls were genotyped for GSTP1, GSTM1 and GSTT1 gene polymorphisms using polymerase chain reaction-restriction fragment length polymorphism, conventional PCR and were assessed for monocyte CD64 expression level using flow cytometry. SLE disease activity index (SLEDAI) and the systemic lupus international. collaborating clinics/damage index (SLICC DI) were considered. Results: The patients mean age was 28.13 ± 4.56 years and disease duration of 6.4 ± 4.9 with a SLEDAI of 14.4 ± 7.1 and SLICC/DI 3.7 ± 1.5. The frequency of GSTM1 null genotype tended to be higher (55%) in SLE patients compared to the controls (and 42.5%) (p = 0.09). The frequency of GSTT1 null genotype was significantly higher in SLE patients (25%) compared to controls (12.5%) (p < 0.001) and with a 1.7-fold risk. The genotypes frequencies of GSTP1 polymorphism were comparable between SLE patients and controls. The monocyte CD64 expression was significantly increased in the patients (MFI: 46.23 ± 4.56) compared to the control (MFI: 14.05 ± 2.01) (p = 0.001). The GSTM1 and GSTT1 as well as CD64 significantly correlated with the serum creatinine (p = 0.005, p = 0.01 and p-0.001, respectively). Conclusion: The GST gene polymorphisms together with monocyte CD64 expression level could have a significant relation with SLE and with increased risk in Egyptian patients. The GST gene polymorphisms and monocyte CD64 may form potential biomarkers for renal function

Celecoxib-Loaded Cubosomal Nanoparticles as a Therapeutic Approach for <i>Staphylococcus aureus</i> In Vivo Infection

There is a great need for novel approaches to treating bacterial infections, due to the vast dissemination of resistance among pathogenic bacteria. Staphylococcus aureus are ubiquitous Gram-positive pathogenic bacteria and are rapidly acquiring antibiotic resistance. Here, celecoxib was encapsulated into cubosomal nanoparticles, and the particle morphology, size distribution, zeta potential, entrapment efficiency, and celecoxib release were evaluated in vitro. Also, a systemic infection model in mice elucidated the in vivo antibacterial action of the celecoxib cubosomes. Cubosomes are a nanotechnology-based delivery system which can adhere to the external peptidoglycan layers of Gram-positive bacteria and penetrate them. The size distribution investigation revealed that the prepared celecoxib-loaded cubosomes had a mean particle size of 128.15 ± 3.04 nm with a low polydispersity index of 0.235 ± 0.023. The zeta potential measurement showed that the prepared cubosomes had a negative surface charge of −17.50 ± 0.45, indicating a highly stable nanodispersion formation with little susceptibility to particle aggregation. The cubosomal dispersion exhibited an entrapment efficiency of 88.57 ± 2.36%. The transmission electron micrograph for the prepared celecoxib-loaded cubosomes showed a narrow size distribution for the cubosomal nanoparticles, which had a spherical shape and were non-aggregated. The tested cubosomes diminished the inflammation in the treated mice’s liver and spleen tissues, as revealed by hematoxylin and eosin stain and Masson’s trichrome stain. The immunostained tissues with nuclear factor kappa B and caspase-3 monoclonal antibodies revealed a marked decrease in these markers in the celecoxib-treated group, as it resulted in negative or weak immunostaining in liver and spleen that ranged from 4.54% to 17.43%. This indicates their inhibitory effect on the inflammatory pathway and apoptosis, respectively. Furthermore, they reduced the bacterial burden in the studied tissues. This is alongside a decrease in the inflammatory markers (interleukin-1 beta, interleukin-6, cyclooxygenase-2, and tumor necrosis factor-alpha) determined by ELISA and qRT-PCR. The IL-1β levels were 16.66 ± 0.5 pg/mg and 17 ± 0.9 pg/mg in liver and spleen, respectively. Also, IL-6 levels were 85 ± 3.2 pg/mg and 84 ± 2.4 pg/mg in liver and spleen, respectively. In conclusion, the current study introduced cubosomes as an approach for the formulation of celecoxib to enhance its in vivo antibacterial action by improving its oral bioavailability

Results of the Ontology Alignment Evaluation Initiative 2023

collocated with the 22nd International Semantic Web Conference ISWC-2023 November 7th, 2023, Athens, GreeceInternational audienceThe Ontology Alignment Evaluation Initiative (OAEI) aims at comparing ontology matching systems on precisely defined test cases. These test cases can be based on ontologies of different levels of complexity and use different evaluation modalities. The OAEI 2023 campaign offered 15 tracks and was attended by 16 participants. This paper is an overall presentation of that campaign

EOSC-Life Report on the work of the Open Call Projects

This Deliverable 3.3 is a report on the Digital Life Sciences Open Call and two Internal Calls organised by EOSC-Life WP3. The organisation of these Calls followed the successful integration and support of 8 Demonstrator projects&nbsp;which provided the first concrete use cases in the initial phase of EOSC-Life. The three Calls overall supported 11 scientific user projects, selected to facilitate integration of concrete use-cases across Life Sciences domains into the European Open Science Cloud (EOSC)&nbsp;framework. Through the Calls, the practical goal was to facilitate co-creation of an open, digital collaborative space for life science research by developing FAIR&nbsp;tools, workflows, resources, infrastructures, and guidelines together with the EOSC-Life RIs experts and communities. We report in this Deliverable the following achievements: Organisation of the EOSC-Life Open and Internal Calls; Integrating and training the EOSC-Life WP3 Open Call&nbsp;and Internal Call&nbsp;project teams in EOSC-Life; Activities for connecting project teams with EOSC-Life and LS-RI communities and dissemination of projects outcomes to broader communities; Work done in the individual projects, their results, and impact of developed resources; Recommendations from the EOSC-Life WP3 project teams and the EOSC-Life community for future Open Calls. </ol

The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update

Abstract Galaxy is a mature, browser accessible workbench for scientific computing. It enables scientists to share, analyze and visualize their own data, with minimal technical impediments. A thriving global community continues to use, maintain and contribute to the project, with support from multiple national infrastructure providers that enable freely accessible analysis and training services. The Galaxy Training Network supports free, self-directed, virtual training with &gt;230 integrated tutorials. Project engagement metrics have continued to grow over the last 2 years, including source code contributions, publications, software packages wrapped as tools, registered users and their daily analysis jobs, and new independent specialized servers. Key Galaxy technical developments include an improved user interface for launching large-scale analyses with many files, interactive tools for exploratory data analysis, and a complete suite of machine learning tools. Important scientific developments enabled by Galaxy include Vertebrate Genome Project (VGP) assembly workflows and global SARS-CoV-2 collaborations