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BackgroundEllis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused by pathogenic variants in EVC or EVC2. Weyers acrofacial dysostosis (WAD) is an ultra-rare dominant condition allelic to EvC. The present work aimed to enhance current knowledge on the clinical manifestations of EvC and WAD and broaden their mutational spectrum.MethodsWe conducted molecular studies in 46 individuals from 43 unrelated families with a preliminary clinical diagnosis of EvC and 3 affected individuals from a family with WAD and retrospectively analysed clinical data. The deleterious effect of selected variants of uncertain significance was evaluated by cellular assays.Main resultsWe identified pathogenic variants in EVC/EVC2 in affected individuals from 41 of the 43 families with EvC. Patients from each of the two remaining families were found with a homozygous splicing variant in WDR35 and a de novo heterozygous frameshift variant in GLI3, respectively. The phenotype of these patients showed a remarkable overlap with EvC. A novel EVC2 C-terminal truncating variant was identified in the family with WAD. Deep phenotyping of the cohort recapitulated ‘classical EvC findings’ in the literature and highlighted findings previously undescribed or rarely described as part of EvC.ConclusionsThis study presents the largest cohort of living patients with EvC to date, contributing to better understanding of the full clinical spectrum of EvC. We also provide comprehensive information on the EVC/EVC2 mutational landscape and add GLI3 to the list of genes associated with EvC-like phenotypes.

Background Silver–Russel syndrome (SRS) is a congenital disorder which is mainly characterized by intrauterine and postnatal growth retardation, relative macrocephaly, and characteristic (facial) dysmorphisms. The majority of patients shows a hypomethylation of the imprinting center region 1 (IC1) in 11p15 and maternal uniparental disomy of chromosome 7 (upd(7)mat), but in addition a broad spectrum of copy number variations (CNVs) and monogenetic variants (SNVs) has been reported in this cohort. These heterogeneous findings reflect the clinical overlap of SRS with other congenital disorders, but some of the CNVs are recurrent and have therefore been suggested as SRS-associated loci. However, this molecular heterogeneity makes the decision on the diagnostic workup of patients with SRS features challenging. Case presentation A girl with clinical features of SRS but negatively tested for the IC1 hypomethylation and upd(7)mat was analyzed by whole genome sequencing in order to address both CNVs and SNVs in the same run. We identified a 11p13 microduplication affecting a region overlapping with a variant reported in a previously published patient with clinical features of Silver–Russel syndrome. Conclusions The identification of a 11p13 microduplication in a patient with SRS features confirms the considerable contribution of CNVs to SRS-related phenotypes, and it strengthens the evidence for a 11p13 microduplication syndrome as a differential diagnosis SRS. Furthermore, we could confirm that WGS is a valuable diagnostic tool in patients with SRS and related disorders, as it allows CNVs and SNV detection in the same run, thereby avoiding a time-consuming diagnostic testing process.

Objectives Lifetime DSM‐5 diagnoses generated by the lay‐administered Composite International Diagnostic Interview for DSM‐5 (CIDI) in the World Mental Health Qatar (WMHQ) study were compared to diagnoses based on blinded clinician‐administered reappraisal interviews. Methods Telephone follow‐up interviews used the non‐patient edition of the Structured Clinician Interview for DSM‐5 (SCID) oversampling respondents who screened positive for five diagnoses in the CIDI: major depressive episode, mania/hypomania, panic disorder, generalized anxiety disorder, and obsessive‐compulsive disorder. Concordance was also examined for a diagnoses of post‐traumatic stress disorder based on a short‐form versus full version of the PTSD Checklist for DSM‐5 (PCL‐5). Results Initial CIDI prevalence estimates differed significantly from the SCID for most diagnoses (χ12${\\chi }_{1}^{2}$  = 6.6–31.4, p = 0.010 < 0.001), but recalibration reduced most of these differences and led to consistent increases in individual‐level concordance (AU‐ROC) from 0.53–0.76 to 0.67–0.81. Recalibration of the short‐form PCL‐5 removed an initially significant difference in PTSD prevalence with the full PCL‐5 (from χ12${\\chi }_{1}^{2}$  = 610.5, p < 0.001 to χ12${\\chi }_{1}^{2}$  = 2.5, p = 0.110) while also increasing AU‐ROC from 0.76 to 0.81. Conclusions Recalibration resulted in valid diagnoses of common mental disorders in the Qatar National Mental Health Survey, but with inflated prevalence estimates for some disorders that need to be considered when interpreting results.

The Composite International Diagnostic Interview (CIDI) has been clinically reappraised in several studies conducted mainly in the US and Europe. This report describes the methodology used to conduct one of the Middle East's largest clinical reappraisal studies. The study was carried out in conjunction with the World Mental Health Qatar-the first national psychiatric epidemiological study of common mental disorders in the country. This study aimed to evaluate the diagnostic consistency of core modules of the newly translated and adapted Arabic version of the CIDI 5.0 against the independent clinical diagnoses based on the Structured Clinical Interview for DSM-5 (SCID-5). Telephone follow-up interviews were administered by trained clinicians using the latest research edition of the SCID for DSM-5. Telephone administered interviews were key in the data collection, as the study took place during the COVID-19 pandemic. Overall, within 12 months, 485 interviews were completed. The response rate was 52%. Quality control monitoring documented excellent adherence of clinical interviews to the rating protocol. The overall methods used in this study proved to be efficient and effective. For future research, instrument cultural adaptation within the cultural context is highly recommended.

The aim of this study was to investigate the potential protective effect of two extracts derived from two soil actinomycete strains, designated S19 and G30, against CCl4-induced hepatotoxicity in male rats. Sixty-four male rats were divided into four groups of 16 rats per group. The first group was a control group given corn oil and the nutritive medium which is composed of a mixture of the two used media. The second group received CCl 4 only, the third group was administered CCl 4 and the extract S19, and the fourth group was administered CCl 4 and the extract G30. The results were taken after a treatment period of 8 weeks. Our data demonstrated that the two actinomycete extracts significantly ( P  < 0.01) lowered the CCl 4 -induced elevation of serum levels of alanine aminotransferase (ALT), aspartate aminotransferase (AST), and alkaline phosphatase (ALP) after 8 weeks of treatment. The extract S19 had no effect on serum lactate dehydrogenase (LDH) and total bilirubin, whereas the extract G30 significantly decreased ( P  < 0.01) the elevated levels of these parameters in the serum, especially after 4 weeks of treatment. The levels of hepatic glutathione (GSH), glutathione peroxidase (GSH-Px), peroxidase (Px), catalase (CAT), and superoxide dismutase (SOD) significantly increased ( P  < 0.01), while those of malondialdehyde (MDA) markedly decreased in rats treated with the two extracts. Furthermore, histopathological lesions in the liver, including necrosis, inflammatory cell infiltration, hydropic degeneration, and congestion of the central vein, were partially reversed by treatment with the two microbial extracts. Our results provided evidence for the protective effect of the two used actinomycete extracts against CCl 4 -induced liver damage occurred through the reduction of oxidative stress and improvement of antioxidant defense markers.

Actinomycetes are a group of the Gram-positive bacteria famous for their antimicrobial, anticancer, anti-parasitic, and anti-inflammatory activities. This study aimed to investigate the efficacy of two bacterial extracts derived from two soil actinomycete strains (S19 and G30) against carbon tetrachloride (CCl 4 )–induced nephrotoxicity in experimental rats. Sixty-four male rats were assigned to four groups of 16 rats in each group. The 1st group was kept as a normal (control) group and given corn oil combined with the used production medium, while the 2nd group received only CCl 4 (CCl 4 group). On the other hand, the 3rd group (CCl 4 +S19) was administered CCl 4 and the extract of the actinomycete strain S19 and the 4th group (CCl 4 +G30) received CCl 4 and the extract of the actinomycete strain G30, both treatments for 8 weeks. The results revealed that the two actinomycete extracts S19 and G30 could significantly ( p  < 0.01) lower the elevated levels of serum creatinine, urea, and uric acid caused by the CCl 4 administration. Additionally, the two actinomycete extracts improved the decreased serum total protein. Interestingly, treatment of the CCl 4 -intoxicated rats with S19 and G30 extracts remarkably reversed the lowered renal glutathione (GSH), glutathione peroxidase (GSH-Px), peroxidase (Px) and superoxide dismutase (SOD) activities, and the elevated lipid peroxidation (LPO) levels. The histopathological examination of the treated kidney revealed that the two actinomycete extracts improved rats against CCl 4 -induced kidney lesions. The present results suggested that the protective effect of the two actinomycete extracts may rely on its effect on reducing the oxidative stress and improving the antioxidant defense system.

Primary congenital glaucoma (PCG) accounts for 26–29% of childhood blindness in Egypt. The identification of disease causing mutations has not been extensively investigated. We aimed to examine the frequency of CYP1B1 and MYOC mutations in PCG Egyptian patients, and study a possible genotype/phenotype correlation. Ninety-eight patients with PCG diagnosed at the Ophthalmology department of Alexandria Main University Hospital were enrolled. Demographic and phenotypic characteristics were recorded. Patients and 100 healthy subjects (control group) were screened for two mutations in CYP1B1 gene (G61E, R368H) and one mutation in MYOC gene (Gln48His) using polymerase chain reaction/restriction fragment length polymorphism (PCR/RFLP). Phenotypic characteristics pertaining to disease severity were compared. Nineteen patients (19%) with PCG were found positive for one or more of the mutations screened for. Seven patients (7%) were homozygous for the G61E mutation. Ten patients (10%) were heterozygous; 6 for the G61E mutation, 2 for the R368H mutation and 2 for the Gln48His mutation. Two patients (2%) were double heterozygotes harboring a R368H as well as a Gln48His mutation. The most common mutation observed was the G61E in 13 patients; 7 homozygotes and 6 heterozygotes for the mutation. The control group were negative for all mutations screened for. No significant correlations between the mutations and phenotype severity were detected. A statistically significant positive correlation however was found between the different mutations and each of the IOP and the cup/disk ratio. The current study further endorses the role of CYP1B1 mutations in the etiology of PCG among Egyptian patients and is the first study to report MYOC gene mutation in Egyptian patients with PCG.

Fraser syndrome (FS) is a rare autosomal recessive disorder characterized by cryptophthalmos, cutaneous syndactyly, laryngeal malformations and urogenital defects. It may be also associated with ear, nose and skeletal abnormalities. There is a marked interfamilial clinical variability. However, there is strong phenotypic similarity and concordance of the degree of severity of the disease within a family. Our aim was to report new cases of FS from the Egyptian population. The study was carried out on 6 new cases of FS from four Egyptian families. All patients satisfied the diagnostic criteria for FS. Cryptophthalmos and ambiguous genitalia were each present in 5/6 of the studied cases, while syndactyly and urinary tract abnormalities were found in 4/6 of them. Nasal anomalies, sclerocornea and abnormal hair growth pattern were constant features observed in 100% of the cases. The frequency of additional anomalies in our series was also higher than those previously reported as umbilical abnormalities and contractures of large joints. In conclusion, our findings add further evidence for the clinical variability associated with FS. The studied cases showed inconsistent compatibility with life and variable expressions in prenatal sonographic findings and postnatal clinical manifestations.

This study analyzes the pedagogical strategies for integrating technology in early childhood education and provides reflective insights on its educational value based on a comprehensive review of research from 1994 to 2004. The study assumes that digital tools-when used intentionally and developmentally-enhance young children's interactive learning, linguistic acquisition, cognitive growth, and social engagement. Drawing on a rich corpus of studies addressing the use of computers, tablets, smart boards, and multimedia in preschool contexts, the research identifies best practices that emphasize guided play, discovery-based learning, and collaborative interaction. It discusses both the benefits and potential drawbacks of early exposure to technology, cautioning that unstructured or excessive use may hinder attention span and face-to-face interaction if not balanced with real-world experiences. The literature reviewed shows that digital educational media-especially interactive games and multimedia programs-can significantly improve language comprehension, creativity, and motivation among young learners. The study concludes that technology in early childhood education should function as a means to enrich learning, not replace it, advocating for teacher training programs in digital pedagogy and the design of safe, age-appropriate educational software aligned with developmental psychology. Abstract Written by Dar AlMandumh, 2025, Using AI

Psychosomatic symptoms have received considerable study and attention from researchers, but there is a paucity of studies examining their relationship to Stressful life events and physiological immunity in diabetic foot patients, The current study aims to reveal the Stressful life events and physiological immunity contribute to the prediction of psychosomatic symptoms in a sample of diabetic foot patients, The study sample consisted of 60 patients with diabetic foot, with an age range between 40 and 70 years, a mean age of 57.32 years, and a standard deviation of 13.3 years. The sample included 39 males and 21 females, The study results demonstrated the extent to which Stressful life events and physiological immunity contribute to the prediction of psychosomatic symptoms, The research results revealed the extent to which Stressful life events and physiological immunity contribute to psychosomatic symptoms. Underscores the urgent need for integrated approaches that simultaneously address psychological and immunological health.