A5075549691- Metabolism and Genetic Disorders
- Genetics and Neurodevelopmental Disorders
- Genomics and Rare Diseases
- Genomic variations and chromosomal abnormalities
- Prenatal Screening and Diagnostics
- Autism Spectrum Disorder Research
- Mitochondrial Function and Pathology
- Regulation of Appetite and Obesity
- Adipose Tissue and Metabolism
- Chromosomal and Genetic Variations
- Neonatal Health and Biochemistry
- Peroxisome Proliferator-Activated Receptors
- Biochemical Analysis and Sensing Techniques
- Amino Acid Enzymes and Metabolism
- Diet and metabolism studies
- Lysosomal Storage Disorders Research
- Child Nutrition and Feeding Issues
- Folate and B Vitamins Research
- Biochemical and Molecular Research
- Family and Disability Support Research
- Epigenetics and DNA Methylation
- Trypanosoma species research and implications
- Assistive Technology in Communication and Mobility
- Genetic Syndromes and Imprinting
- Cancer, Hypoxia, and Metabolism
King Faisal Specialist Hospital & Research Centre
2015-2025
King Fahd Security College
2023
King Saud University
2015-2020
King Salman Center for Disability Research
2014-2020
Riyadh Armed Forces Hospital
2020
Alfaisal University
2020
Ministry of Health
2017
Human Genetic of Infectious Diseases
2004
Mayo Clinic
1998
To address the implementation of National Newborn Screening Program (NBS) in Saudi Arabia and stratify incidence screened disorders.A retrospective study conducted between 1 August 2005 31 December 2012, total 775 000 newborns were from 139 hospitals distributed among all regions Arabia. The NBS screens for 16 disorders a selective list inborn errors metabolism (IEM) endocrine disorders. Heel prick dry blood spot samples obtained biochemical immunoassay testing. Recall screening testing was...
Multiple displacement amplification (MDA) is a technique used in the of very low amounts DNA and reported to yield large quantities high-quality DNA. We MDA amplify whole genome directly from single cell. The most common techniques PGD are PCR fluorescent in-situ hybridization (FISH). There many limitations these including, number chromosomes diagnosed for FISH or quality issued cell PCR. This report shows, first time, use amplification. A total 16 short tandem repeats (STRs) were amplified...
Abstract Context Congenital hypothyroidism (CH) is the most common neonatal endocrine disorder, affecting one in 3000 to 4000 newborns. Since introduction of a newborn screening program 1988, more than 300 cases have been identified. The underlying genetic defects not systematically studied. Objective To identify mutation spectrum CH-causing genes. Methods Fifty-five patients from 47 families were studied by next-generation exome sequencing. Results Mutations identified 52.7% (29 55)...
Abstract Membrane trafficking is a complex, essential process in eukaryotic cells responsible for protein transport and processing. Deficiencies vacuolar sorting (VPS) proteins, key regulators of trafficking, cause abnormal intracellular segregation macromolecules organelles are linked to human disease. VPS proteins function as part complexes such the homotypic fusion vacuole (HOPS) tethering composed VPS11, VPS16, VPS18, VPS33A, VPS39 VPS41. The HOPS-specific subunit VPS41 has been reported...
Abstract Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to neuroregression death if untreated. Using biotin thiamine at early stage of the can lead significant improvement. Methods BTBGD a treatable diagnosed age has been frequently reported Saudi population....
A simple and efficient validated assay for quantifying 21-deoxycortisol (21-DOC), 17-hydroxyprogesterone (17-OHP), cortisol, cortisone in human plasma has been developed using ultra-high performance liquid chromatography coupled with tandem mass spectrometry (UHPLC-MS/MS). Analysis of samples were performed on Atlantis dC18 (3 μm) column a mobile phase 20.0 mM ammonium acetate acetonitrile (50:50, v : v) that was delivered at isocratic flow rate 0.3 mL/minute. After addition d4-cortisol as...
Abstract Objective: Genomic duplications that lead to autism and other human diseases are interesting pathological lesions since the underlying mechanism almost certainly involves dosage sensitive genes. We aim understand a novel genomic disorder with profound phenotypic consequences, most notably global developmental delay, autism, psychosis, anorexia nervosa. Methods: evaluated affected individuals, all maternally related, using childhood rating scale (CARS) Vineland Adaptive scales,...
Peroxisomes are subcellular organelles involved in lipid metabolic processes, including those of very-long-chain fatty acids and branched-chain acids, among others. Peroxisome matrix proteins synthesized the cytoplasm. Targeting signals (PTS or peroxisomal targeting signal) at C-terminus (PTS1) N-terminus (PTS2) mediate their import into organelle. In case PTS2-containing proteins, PTS2 signal is cleaved from protein when transported peroxisomes. The functional mechanism processing, however,...
Rett syndrome (RTT) is a severe neurodevelopmental disorder reported worldwide in diverse populations. RTT diagnosed primarily females, with clinical findings manifesting early life. Despite the variable rates across populations, has an estimated prevalence of ∼1 10,000 live female births. Among 215 Saudi Arabian patients and autism spectrum disorders, we identified 33 who were subsequently examined by genome-wide transcriptome mitochondrial genome variations. To best our knowledge, this...
<h3>Objectives:</h3> To determine the incidence of newborn screening (NBS) disorders and to study key performance indicators program. <h3>Methods:</h3> This retrospective single-center enrolled all infants who underwent NBS from January 2012 December 2017 at Prince Sultan Military Medical City, Riyadh, Saudi Arabia. We screened 17 disorders. Blood samples were collected 24 hours after birth. If initial result was positive, a second sample collected. True positive cases immediately referred...
Preimplantation genetic diagnosis (PGD) has been proposed as an alternative to prenatal (PND). This study compares the attitudes towards PGD of four groups parents in Saudi Arabia: two at risk for different conditions but with no experience procedures and who had experience, either or vitro fertilisation (IVF) infertility.One hundred eighty participants attending King Faisal Specialist Hospital Research Centre (KFSH&RC) Riyadh were interviewed using a semi-structured questionnaire: 49...
Objective . To assess the attitude and knowledge of Saudi mothers toward newborn screening (NBS) program. Methods A total 425 women (only who have at least one pregnancy) participated in study from different regions Arabia completed structured questionnaire which sought their views on NBS services. Results majority participating (91.1%) supported program felt it was very important useful. However, found to be limited only 34.6% knew that a test detect genetic disorders. lack communication...
Background . Several studies have shown an association between codon 16 polymorphism of the β 2AR gene and obesity. Methods We studied Arg16Gly obesity its influence on anthropometric parameters, lipids, insulin resistance leptin in Saudi individuals. The study group included 329 individuals (males: 109 females: 220). Metabolic including glucose, insulin, were analyzed parameters waist hip circumference, waist/hip (W/H) ratio, body mass index (BMI) measured HOMA-IR was calculated. Genotyping...
A randomized controlled trial was conducted to assess the feasibility of Responsive Teaching (RT) with a sample 28 Saudi Arabian preschool-aged children diagnoses autism and their mothers over 4-month period time. RT is an early intervention curriculum that attempts promote children’s development by encouraging parents engage in highly responsive interactions. Subjects were randomly assigned treatment conditions: Control group received standard community services; weekly parent–child...
Background Pathogenic variants in ALDH7A1 are associated with pyridoxine-dependent epilepsy (PDE), a rare autosomal recessive disorder characterized by epileptic seizures, unresponsiveness to standard antiseizure medications (ASM), and response only pyridoxine. Here, we report two patients (from consanguineous family) neonatal seizures developmental delay. Case presentation Patient 1 (a 13-year-old girl) was born normally at term. Her pregnancy complicated antiphospholipid syndrome,...
Different types of mutations have been reported in patients with hemophilia A. Although about half all severe factor VIII deficiencies are caused by gene rearrangements (inversions) involving intron 22 F8, other such as point mutation, large deletions and insertions had reported. We report the result first molecular testing for or F8 from Saudi Arabia. A cohort men was studied mutations. All were tested coagulant activity inhibitors. Peripheral blood samples used DNA extraction followed PCR...