A5056278511- Connective tissue disorders research
- Prenatal Screening and Diagnostics
- Genomic variations and chromosomal abnormalities
- Skin and Cellular Biology Research
- Inflammasome and immune disorders
- Biomarkers in Disease Mechanisms
- Genetic and Kidney Cyst Diseases
- Hedgehog Signaling Pathway Studies
- Congenital limb and hand anomalies
- Dermatological and Skeletal Disorders
- Genomics and Rare Diseases
- Kruppel-like factors research
- Metabolism and Genetic Disorders
- Acute Kidney Injury Research
- Bone and Dental Protein Studies
- Ethics and Legal Issues in Pediatric Healthcare
- Adipokines, Inflammation, and Metabolic Diseases
- RNA modifications and cancer
- Muscle and Compartmental Disorders
- Wnt/β-catenin signaling in development and cancer
- Surgical Sutures and Adhesives
- Biochemical Acid Research Studies
- Chronic Kidney Disease and Diabetes
- Vitamin D Research Studies
- Heterotopic Ossification and Related Conditions
National Research Centre
2001-2025
Weill Cornell Medical College in Qatar
2022
Hamad Medical Corporation
2022
National Water Research Center
2012
PLOD2 and FKBP10 are genes mutated in Bruck syndrome (BS), a condition resembling osteogenesis imperfecta (OI), but that is also typically associated with congenital joint contractures. Herein, we sought mutations six consanguineous BS families detected changes either or all cases. Two probands were found homozygous frameshift mutation the alternative exon 13a of PLOD2, indicating specific inactivation longer protein isoform encoded by this gene sufficient to cause BS. In addition,...
Previous work has shown Ellis-van Creveld (EvC) patients with mutations either in both alleles of EVC or EVC2. We now report affected individuals the two genes inactivated on each allele. In a consanguineous pedigree diagnosed EvC and borderline intelligence, we detected 520-kb homozygous deletion comprising EVC, EVC2, C4orf6, STK32B, caused by recombination between long interspersed nuclear element-1 (LINE-1 L1) elements. Patients for are deficient EVC2 have no increase severity typical...
Objectives Fibrodysplasia ossificans progressiva (FOP) is a rare ectopic ossification disorder of connective tissue deposited in the muscles, fascia, tendons, and ligaments. The disease an autosomal dominant pattern caused by pathogenic variants ACVR1 . Herein, we describe largest number affected individuals from Middle East North Africa region who presented with FOP. Methods DNA extraction molecular studies using Sanger sequencing was done for nine developing bony swellings variable...
Adams–Oliver syndrome is characterized by aplasia cutis congenita and variable degrees of terminal transverse limb defects. Other associated anomalies were described in the syndrome. Most cases follow an autosomal dominant pattern inheritance. Sporadic recessive cases, however, reported. In this study, we report on three Egyptian patients with from different families. The parents normal consanguineous all There was history similarly affected sibs for two cases. These findings denote reported...
Background Ellis-van Creveld syndrome (EvC) is a recessive disorder characterised by acromesomelic limb shortening, postaxial polydactyly, nail-teeth dysplasia and congenital cardiac defects, primarily caused pathogenic variants in EVC or EVC2 . Weyers acrofacial dysostosis (WAD) an ultra-rare dominant condition allelic to EvC. The present work aimed enhance current knowledge on the clinical manifestations of EvC WAD broaden their mutational spectrum. Methods We conducted molecular studies...
Introduction Dyggve–Melchior–Clausen (DMC) syndrome is a rare autosomal recessive type of skeletal dysplasia. It characterized by the association progressive spondyloepimetaphyseal dysplasia (SEMD), microcephaly, mental retardation (MR), and coarse facies. The radiographic appearance generalized platyspondyly with double-humped end plates lace-like iliac crests are pathognomonic distinctive DMC syndrome. disorder results from mutations in DYM gene mapped 18q12-12.1 chromosomal region....
In order to prepare moist healing wound dressings based on cotton gauze fabrics, the latter are carboxymethylated carboxyl contents of 72, 170, and 220meq/100g. contrast other two samples, first sample showed no gelling in phosphate buffered saline (PBS) at 37 ° C. The samples made Ca/Na forms 3% degree neutralization (% DN), 10/90, 20/80, 30/70), while that is left its Na form. To acquire them antibacterial activity, all padded 20/80 ethanol/water containing different concentrations...
Robinow syndrome (RS) is a rare genetic disorder characterized by limb shortening, genital hypoplasia, and craniofacial/orodental abnormalities. The follows both autosomal dominant recessive patterns of inheritance with similar phenotypic presentation overlapping features. Autosomal (ARRS) caused mutations in the ROR2 gene. Here, we present clinical, radiological molecular findings 11 Egyptian patients from 7 unrelated consanguineous families clinical features ARRS. Mutation analyses gene...
In this report, we describe two unrelated Egyptian male infants with limb malformations and constriction rings. The first case is developing normally but has severe anomalies, congenital rings, scoliosis because of vertebral a left accessory nipple, small tumor-like swelling on his lower back tiny skin tubular appendages, hypoplastic scrotum, an anchored penis. second developmentally delayed malformations, lumbar myelomeningeocele, hemangioma, appendages the back. patient also had bilateral...
Abstr act Background Familial Mediterranean fever (FMF) is autosomal recessive chronic disease represents by recurring attacks of polyserositis, fever, and joint pain. Vitamin D deficiency in FMF children has been recently mentioned literature linked to delayed physical growth. Osteoporosis patients can be low levels vitamin D, too. Osteoprotegerin (OPG) might used as an indicator for osteoporosis. Therefore, this work aimed investigate the impact administration on clinical status, BMI, bone...
BackgroundLimb reduction defects (LRDs) refer to absence of either parts a limb or entire limbs. They represent one the most common visible phenotypic effects several etiologies. The major causes LRDs are abnormal genetic problems and intrauterine disruption. Many environmental risk fact
One of the challenges physicians face while evaluating patients with markedly reduced kidney function is distinguishing between acute injury and chronic disease (CKD). The coexistence more than one disorder well recognized as CKD a major risk factor for injury, from which patient may not recover completely, leading to accelerated renal dysfunction.1 Determining baseline by retrospectively analyzing serum creatinine values over an extended period essential in such cases.
Abstract Familial Mediterranean fever (FMF) is the most common autoinflammatory disorder characterized by chronic subclinical inflammation. The aim of work to access if chemerin can be used as a diagnostic index in FMF patients. Methods: A total 66 patients and 60 controls matching age sex were enrolled study. Serum chemerin, lipid profile vitamin D determined ELISA assay. Results: Chemerin level which suggested inflammation was significantly elevated compared controls. had highly...