A5049343291- Diabetes, Cardiovascular Risks, and Lipoproteins
- Lipoproteins and Cardiovascular Health
- Genetic Associations and Epidemiology
- Metabolism and Genetic Disorders
- Liver Disease Diagnosis and Treatment
- Pharmacogenetics and Drug Metabolism
- Genomics and Rare Diseases
- Heart Rate Variability and Autonomic Control
- Metabolomics and Mass Spectrometry Studies
- Stress Responses and Cortisol
- Connective tissue disorders research
- Heart rate and cardiovascular health
- Wnt/β-catenin signaling in development and cancer
- Genetics and Neurodevelopmental Disorders
- Genomic variations and chromosomal abnormalities
- Drug Transport and Resistance Mechanisms
- High Altitude and Hypoxia
- Alcohol Consumption and Health Effects
- Epigenetics and DNA Methylation
- Ion channel regulation and function
- Muscle Physiology and Disorders
- Chemical Reactions and Isotopes
- Dermatological and Skeletal Disorders
- Lipid metabolism and disorders
- Travel-related health issues
Sultan Qaboos University
2011-2024
Muscat College
2020
Sultan Qaboos University Hospital
2007-2014
Abstract Global Developmental Delay/Intellectual disability (ID) is the term used to describe various disorders caused by abnormal brain development and characterized impairments in cognition, communication, behavior, or motor skills. In past few years, whole-exome sequencing (WES) has been proven be a powerful, robust, scalable approach for candidate gene discoveries consanguineous populations. this study, we recruited 215 patients affected with ID from 118 Middle Eastern families....
Objectives: This study describes an unsupervised machine learning approach used to estimate the homeostatic model assessment-insulin resistance (HOMA-IR) cut-off for identifying subjects at risk of IR in a given ethnic group based on clinical data representative sample. Methods: The was applied analyse individuals with Arab ancestors, which obtained from family conducted Nizwa, Oman, between January 2000 and December 2004. First, HOMA-IR-correlated variables were identified clustering...
The Sultanate of Oman, like many other Arab countries, has relatively high rates consanguinity. Reports suggest that the incidence inborn errors metabolism (IEM) is also in Oman. This retrospective cross-sectional study was designed to evaluate number patients with IEM being followed at only two tertiary centers Oman treating such patients, and calculate consanguinity among these families. electronic medical records all were reviewed for demographic clinical characteristics. A total 285 2...
Cytochrome P450 enzymes are the major drug-metabolizing in humans and importance of drug transport proteins, particular P-glycoprotein, variability response has also been highlighted. Activity cytochrome P-glycoprotein can vary widely between individuals genotyping and/or phenotyping help assess their activity. Several cocktails have developed. The Geneva cocktail is composed a specific probe for six different one was used context research aiming at exploring genotypes phenotypes distinct...
Individual differences in heart rate variability (HRV) can be partly attributed to genetic factors that may more pronounced during stress. Using data from the Oman Family Study (OFS), we aimed estimate and quantify relative contribution of genes environment variance HRV at rest stress; calculate overlap environmental influences on under stress using bivariate analyses parameters (HR).Time frequency domain variables average HR were measured beat-to-beat obtained electrocardiogram recordings...
Abstract Grebe syndrome is a rare autosomal recessive acromesomelic dysplasia. The was studied clinically, radiographically, and genetically in an Omani family with four affected children. persons had normal axial skeletons, severely shortened, deformed limbs severity increasing proximo‐distal gradient, subluxated joints. humeri femora were hypoplastic distal malformations. radii/ulnae shortened whereas carpal bones invariably rudimentary or absent. tibiae appeared rudimentary; fibulae...
Lower mortality rates from coronary heart disease and higher levels of serum high-density lipoprotein cholesterol (HDL-C) have been observed in populations residing at high altitude. However, this effect has not investigated Arab populations, which exhibit considerable genetic homogeneity. We assessed the relationship between altitude HDL-C 2 genetically similar Omani different altitudes. The association other metabolic parameters was also investigated. were significantly high-altitude group...
Objective: To more precisely and comprehensively estimate the genetic environmental correlations between various indices of obesity BP. Methods: We estimated heritability with BP in Oman family study ( n = 1231). Ambulatory office beat-to-beat was measured mean values for SBP DBP during daytime, sleep, 24-h 10 min at rest were calculated. Different used to quantify fat distribution: BMI, percentage body (%BF), waist circumference waist-to-height ratio (WHtR). SOLAR software perform...
ApolipoproteinA1 (apoA1) is the major apoprotein constituent of high-density-lipoprotein(HDL). The relationship apoA1 -75 bp(M1-) allele polymorphism with lipoprotein phenotype and cardiovascular disease (CVD) remain unclear. Overnight fasting blood samples were collected from a cohort high-risk Omani population, 90 non-diabetic subjects 149 type 2 diabetes mellitus (T2DM) for genotype studies.The M1+ M1- alleles frequencies 0.808 0.192 M1-, respectively, comparable to frequency (M1+ M1-)...
Pelizaeus-Merzbacher–like disease is an autosomal recessive disorder characterized by neonatal nystagmus, ataxia, progressive spasticity, and development delay rarely caused GJC2 mutations. We report 7 patients from a large consanguineous family who had variable severity of disease. The 3 youngest branch A were bedridden their first year because permanent scissoring legs severe frontal lobe epilepsy. single patient B was the least affected, being able to walk until 12 years age no Brain...
Inborn errors of metabolism (IEM) are frequently encountered by physicians in the United Arab Emirates (UAE). However, mutations underlying a large number these disorders have not yet been determined. Therefore, objective this study was to identify IEM among UAE residents from both national and expatriate families. A case series patients 34 families attending metabolic clinic at Tawam Hospital were clinically evaluated, molecular testing carried out determine their causative mutations. The...
Abstract This family study from Oman (n = 1231) explored the heritability and genetic environmental correlations of heart rate variability (HRV) baroreceptor reflex sensitivity (BRS) with ambulatory beat-to-beat blood pressure (BP). Ambulatory BP was measured for 24 hours to calculate mean values daytime sleep separately. Time frequency domain HRV indices, BRS, office BP, (HR) were 10 minutes at rest. SOLAR software used perform univariate bivariate quantitative analyses adjusting age, age 2...
The aim of this study was to screen Omani individuals for the familial aggregation type 2 diabetes mellitus.A random cohort 1182 visiting Family Medicine Clinic at Sultan Qaboos University Hospital (SQUH), Muscat, Oman, regular medical checkup, aged ≥40 years, were sampled. Patients categorized into three groups: (1) who claim not have and had no family history diabetes; (2) but (3) with diabetes. Only 16% these Another separate 234 mellitus patients, from Diabetes SQUH, interviewed...
Interindividual and interethnic differences in allele frequencies of N-acetyltransferase (NAT2) single nucleotide polymorphisms (SNPs) are responsible for phenotypic variability adverse drug reactions susceptibility to cancer. We genotyped the seven NAT2 common SNPs 127 randomly selected unrelated northern Sudanese subjects using allele-specific RFLP polymerase chain reaction (PCR) based methods. Molecular genotyping was enough designate alleles 41 individuals unambiguously, whereas 63...
To determine the molecular basis of familial ichthyosis in three Omani families.Nine patients from consanguineous families, A, B, and C, were born with typical features lamellar subtype including collodion membrane maintained ectropion, epidermal scaling through their childhood. The 4 family B had more severe symptoms requiring neonatal critical care subsequent regular treatment emollients, eye lubricants, low-dose acitretin. DNA was extracted peripheral blood by standard methods. samples...
PTRHD1 was proposed as a disease-causing gene of intellectual disability, spasticity, and parkinsonism.To characterize the clinical phenotype molecular cause disability in four affected individuals consanguineous family.Clinical evaluation, whole-exome sequencing, Sanger reverse transcription polymerase chain reaction (PCR), real-time PCR, immunoblot, isoelectric focusing.A homozygous 28-nucleotide frameshift deletion introducing premature stop codon exon 1 identified members. We further...
The relative frequencies of the *A allele APOA1 gene at -75 bp (M1-) and C or T +83/+ 84 (M2-) varied significantly between populations. We found M1- M2- to be 0.22 0.067, respectively, in 150 healthy Omanis. These were compared other world
<i>Objective:</i> To estimate the apolipoprotein E (apo E) allele distribution in Omani population and to compare them with those of other populations. <i>Subjects Methods:</i> One hundred sixty-two healthy Omanis Arab Bedouin origin were genotyped by polymerase chain reaction followed restriction fragment length polymorphism. <i>Results:</i> The apo frequencies were: ε2, 0.052; ε3, 0.886; ε4, 0.062. This pattern distribution, characterized lowest ε4 among...
Abstract Variation in genes involved the absorption, distribution, metabolism, and excretion of drugs (ADME) can influence individual response to a therapeutic treatment. The study ADME genetic diversity human populations has led evolutionary hypotheses adaptation distinct chemical environments. Population differentiation measured drug metabolism phenotypes is, however, scarcely documented, often indirectly estimated via genotype-predicted phenotypes. We administered seven probe compounds...