Screening for Variants in Egyptian Patients with Pontocerebellar Malformations.

Introduction: Pontocerebellar hypoplasia (PCH) represents a group of rare disorders with prenatal onset and time-dependent loss of brain parenchyma, predominantly affecting the cerebellum and pons with variable involvement of supratentorial structures. Radiologically and pathologically, they are characterized by small cerebellum and pons. Our study aimed to screen for the gene variants in Egyptian patients with PCH for proper counseling and to describe the brain MRI and the clinical phenotype and compare, them to those described in the literature.

Identification of complex Plasmodium falciparum genetic backgrounds circulating in Africa: a multicountry genomic epidemiology analysis.

Background: The population structure of the malaria parasite Plasmodium falciparum can reveal underlying adaptive evolutionary processes. Selective pressures to maintain complex genetic backgrounds can encourage inbreeding, producing distinct parasite clusters identifiable by population structure analyses.

Methods: We analysed population structure in 3783 P falciparum genomes from 21 countries across Africa, provided by the MalariaGEN Pf7 dataset.

Biallelic loss-of-function variants in GON4L cause microcephaly and brain structure abnormalities.

We identified two homozygous truncating variants in GON4L [NM_001282860.2:c.62_63del, p.

Abnormal dental phenotypes in GAPO syndrome: A descriptive study with a new variant & insights on teeth eruption.

Objective: GAPO syndrome is usually diagnosed clinically owing to its characteristic features of growth retardation, alopecia, pseudoanodontia, and ophthalmic anomalies. Pseudoanodontia describes the failure of eruption of the two sets of teeth in these patients. Thus, the abnormal dental phenotype is the emergence of a set or part of a set of dentitions.

Biallelic PTPMT1 variants disrupt cardiolipin metabolism and lead to a neurodevelopmental syndrome.

Primary mitochondrial diseases (PMDs) are among the most common inherited neurological disorders. They are caused by pathogenic variants in mitochondrial or nuclear DNA that disrupt mitochondrial structure and/or function, leading to impaired oxidative phosphorylation (OXPHOS). One emerging subcategory of PMDs involves defective phospholipid (PL) metabolism.

Clinical and genetic delineation of autosomal recessive and dominant ACTL6B-related developmental brain disorders.

Purpose: This study aims to comprehensively delineate the phenotypic spectrum of ACTL6B-related disorders, previously associated with both autosomal recessive and autosomal dominant neurodevelopmental disorders. Molecularly, the role of the nucleolar protein ACTL6B in contributing to the disease has remained unclear.

Methods: We identified 105 affected individuals, including 39 previously reported cases, and systematically analysed detailed clinical and genetic data for all individuals.

Yogurt fortified with various protein hydrolysates: Texture and functional properties.

This work evaluated the impact of incorporating 1% of commercial protein hydrolysates [rice protein hydrolysate (RPH), pea protein hydrolysate (PPH), and casein hydrolysate (CH)] on the functional, microstructure, and texture properties of set yogurt. Yogurt prepared with RPH exhibited the highest viability number of Streptococcus thermophilus. The addition of three hydrolysate types to yogurt revealed significant increases in the antioxidant and ACE-inhibitory activities, where the highest values were noted for the yogurt prepared with RPH.

Biallelic null variants in PNPLA8 cause microcephaly by reducing the number of basal radial glia.

Patatin-like phospholipase domain-containing lipase 8 (PNPLA8), one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. Biallelic variants in PNPLA8 have been associated with a range of paediatric neurodegenerative disorders. However, the phenotypic spectrum, genotype-phenotype correlations and the underlying mechanisms are poorly understood.

A novel missense variant in CAT gene causing acatalasemia with gangrenous periodontitis (Takahara's disease).

Objectives: Acatalasemia is a very rare disorder characterized by gangrenous oral ulcerations and is caused by biallelic variants in the CAT gene which encodes the catalase enzyme that decomposes the hydrogen peroxide molecules to remove their toxic effect. We report two siblings from a consanguineous Egyptian family presenting with joint hyperlaxity, loose dentitions with gangrenous periodontitis, and early loss of teeth.

Study Design: The patients were clinically suspected to have the periodontal type of Ehlers-Danlos syndrome and thus genetic testing of C1S and C1R causative genes was carried out first by Sanger sequencing then exome sequencing (ES) was considered.

Alginate Extracted from Loaded in Selenium Nanoparticles: Insight on Characterization, Antifungal and Anticancer Activities.

Cancer is a threatening disease that needs strong therapy with fewer side effects. A lot of different types of chemotherapy or chemo-drugs are used in cancer treatments but have many side effects. The increasing number of antibiotic-resistant microorganisms requires more study of new antimicrobial compounds and delivery and targeting strategies.

Extensive genetic diversity in Plasmodium vivax from Sudan and its genetic relationships with other geographical isolates.

Plasmodium vivax, traditionally overlooked has experienced a notable increase in cases in East Africa. This study investigated the geographical origin and genetic diversity of P. vivax in Sudan using 14 microsatellite markers.

Work-related injuries and illnesses among kitchen workers at two major students' hostels.

Background: Kitchen workers face a disproportionately high risk of injuries and illnesses. Yet, despite the ubiquity of kitchen-related injuries, there has been a relative lack of comprehensive research on this topic, particularly in developing countries. Ain Shams University, as a prestigious educational institution with its diverse kitchen staff, provides an ideal setting for studying the challenges faced in professional kitchens.

A2A adenosine receptor stimulation ameliorated diabetic-induced osteoporosis in rats.

Diabetic osteoporosis is a common health problem that is associated with a disruption in bone metabolism. A2A adenosine receptor (A2AAR) signaling seems to play a critical role in bone homeostasis. This study aimed to evaluate the effect of A2AAR stimulation on the treatment of diabetic-induced osteoporosis versus insulin treatment.

Computed tomography benefits and cost in hemodynamically stable patients with blunt abdominal trauma at an Egyptian University Hospital.

Background: Trauma is a significant cause of mortality, especially among individuals aged between 15 and 44 years, with a substantial burden falling on economically active populations. Low- and middle-income countries (LMICs) bear the burden of trauma-related deaths, accounting for over 90 % globally. In Egypt, trauma rates are increasing, primarily due to road traffic crashes (RTC), affecting males disproportionately.

2-Methoxyestradiol ameliorates doxorubicin-induced cardiotoxicity by regulating the expression of GLUT4 and CPT-1B in female rats.

The clinical usage of doxorubicin (DOX) is hampered due to cardiomyopathy. Studies reveal that estrogen (E2) modulates DOX-induced cardiotoxicity. Yet, the exact mechanism is unclear.

Isolated dentinogenesis imperfecta: Novel DSPP variants and insights on genetic counselling.

Objective: Dentinogenesis imperfecta (DI) is an inherited dentin defect and may be isolated or associated with disorders such as osteogenesis imperfecta, odontochondrodysplasia Ehler-Danlos and others. Isolated DI is caused mainly by pathogenic variants in DSPP gene and around 50 different variants have been described in this gene. Herein, we report on 19 patients from two unrelated Egyptian families with isolated DI.

The potent effect of selenium nanoparticles: insight into the antifungal activity and preservation of postharvest strawberries from gray mold diseases.

Background: Most microorganisms that cause food decay and the lower the shelf life of foods are fungi. Nanotechnologies can combat various diseases and deal with the application of nanomaterial to target cells or tissues. In this study selenium nanoparticles (Se-NPs) were synthesized using ascorbic acid and characterized by ultraviolet-visible spectroscopy, transmission electron microscopy (TEM), X-ray diffraction and zeta potential.

New insights into the clinical and molecular spectrum of the MADD-related neurodevelopmental disorder.

Biallelic pathogenic variants in MADD lead to a very rare neurodevelopmental disorder which is phenotypically pleiotropic grossly ranging from severe neonatal hypotonia, failure to thrive, multiple organ dysfunction, and early lethality to a similar but milder phenotype with better survival. Here, we report 5 patients from 3 unrelated Egyptian families in whom 4 patients showed the severe end of the spectrum displaying neonatal respiratory distress, hypotonia and chronic diarrhea while one patient presented with the mild form displaying moderate intellectual disability and myopathy. In addition, we observed distal arthrogryposis and nonspecific structural brain anomalies in all our patients.

Medical prospects of cryptosporidiosis control using biofabricated nanoparticles loaded with extracts by .

Background And Aim: Global efforts are continuing to develop preparations against cryptosporidiosis. This study aimed to investigate the efficacy of biosynthesized loading oil extract on new zinc oxide nanoparticles (ZnONPs shorten to ZnNPs) and silver nanoparticles (AgNPs) as alternative treatments for experimental infection in rats.

Materials And Methods: Oil extract was characterized by gas chromatography-mass spectrometry, loaded by on ionic-based ZnO and NPs, and then characterized by transmission electron microscopy, scanning electron microscopy, and X-ray diffraction.

Biallelic variation in the choline and ethanolamine transporter underlies a pleiotropic disease spectrum from adult neurodegeneration to severe developmental disorders.

encodes Feline leukemia virus subgroup C receptor 1 (FLVCR1), a solute carrier (SLC) transporter within the Major Facilitator Superfamily. FLVCR1 is a widely expressed transmembrane protein with plasma membrane and mitochondrial isoforms implicated in heme, choline, and ethanolamine transport. While knockout mice die with skeletal malformations and defective erythropoiesis reminiscent of Diamond-Blackfan anemia, rare biallelic pathogenic variants are linked to childhood or adult-onset neurodegeneration of the retina, spinal cord, and peripheral nervous system.