Publications by authors named "Mohammed Al-Dubayee"

Background/objectives: Understanding the metabolic responses to different macronutrients is crucial for assessing their impacts on health. This study aims to investigate the postprandial metabolomic profiles of healthy individuals following the consumption of glucose, protein, and lipids.

Methods: Twenty-three healthy, normal-weight adults participated in the study, randomly assigned to consume 300 kcal from glucose, protein, or lipids after an overnight fast.

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  • Homozygous familial hypercholesterolaemia (HoFH) is a rare genetic disorder that causes extremely high LDL cholesterol levels, leading to heart disease at an early age; lomitapide is a medication designed to lower these cholesterol levels in affected adults and is being tested for safety and efficacy in children.
  • The APH-19 study involved 43 pediatric patients aged 5-17 years on existing cholesterol treatments; they received varying doses of lomitapide over a 24-week period to measure its effect on LDL cholesterol levels and other lipid parameters.
  • Results indicated a significant decrease in LDL cholesterol by 53.5% after 24 weeks of treatment, suggesting lomitapide may be effective for managing cholesterol
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The Saudi National Diabetes Registry focuses mainly on adult patients. In 2020, the National Guard Health Authority (NGHA) launched the Saudi Pediatric and Youth Diabetes Registry (SPYDR), for children and adolescents with diabetes. This report is about the first data and the challenges we faced during SPYDR initiation.

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Background: Congenital generalized lipodystrophy (CGL) is a rare inherited disease characterized by a near-total absence of adipose tissue and is associated with organ system abnormalities and severe metabolic complications. Here, we have analyzed the disease characteristics of the largest CGL cohort from the Middle East and North Africa (MENA) who have not received lipodystrophy-specific treatment.

Methods: CGL was diagnosed clinically by treating physicians through physical assessment and supported by genetic analysis, fat loss patterns, family history, and the presence of parental consanguinity.

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Homozygous familial hypercholesterolaemia (HoFH) is a severe form of FH in which inheritance of two defective or null mutations in genes associated with metabolism of low-density lipoprotein cholesterol (LDL-C) results in extremely high LDL-C, premature atherosclerotic cardiovascular disease (ASCVD) and mortality. Treatment of HoFH comprises a multi-modal approach of statins, ezetimibe, lipoprotein apheresis; and inhibitors of proprotein convertase subtilisin/kexin type, angiopoietin-like protein 3 (ANGPTL3) and microsomal triglyceride transfer protein. These treatments are generally costly, and patients also often require treatment for ASCVD consequent to HoFH.

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Metformin is the first-line oral medication for treating type 2 diabetes mellitus (T2DM). In the current study, an untargeted lipidomic analytical approach was used to investigate the alterations in the serum lipidome of a cohort of 89 participants, including healthy lean controls and obese diabetic patients, and to examine the alterations associated with metformin administration. A total of 115 lipid molecules were significantly dysregulated (64 up-regulated and 51 down-regulated) in the obese compared to lean controls.

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Objective: The aim of this study was to investigate the role of cytokines in children with T1D living in Saudi Arabia and their correlation with disease duration and autoimmune antibody markers.

Methods: A case-control study was conducted in the endocrine clinic of King Abdullah Specialized Children's Hospital in Riyadh. A total of 274 T1D and healthy control children were enrolled in the study.

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: Obesity and type 2 diabetes mellitus (T2DM) are characterized by underlying low-grade chronic inflammation. Metformin has been used as the first line of therapy in T2DM as it decreases hepatic glucose production and glucose intestinal absorption, enhances insulin sensitivity and weight loss, and is known to ameliorate inflammation. The mechanisms through which metformin exerts its effect remain unclear.

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Background: Post-operative pituitary insufficiency (PI) occurs in children with supra-tentorial tumors (STT) because of surgery or the mass effect of the tumor. We assessed the prevalence and clinical characteristics of STTs and predicted postoperative PI in our patients.

Methods: This retrospective cohort study included children who underwent surgery for STT in two tertiary hospitals in Saudi Arabia (2009-2019).

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: Visceral obesity is associated with chronic low-grade inflammation that predisposes to metabolic syndrome. Indeed, infiltration of adipose tissue with immune-inflammatory cells, including 'classical' inflammatory M1 and anti-inflammatory 'alternative' M2 macrophages, causes the release of a variety of bioactive molecules, resulting in the metabolic complications of obesity. This study examined the relative expression of macrophage phenotypic surface markers, cholesterol efflux proteins, scavenger receptors, and adenosine receptors in human circulating peripheral blood mononuclear cells (PBMCs), isolated from patients with type 2 diabetes mellitus (T2DM), with the aim to phenotypically characterize and identify biomarkers for these ill-defined cells.

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  • Goiter is often a sign of various thyroid diseases in children, with this study focusing on the ultrasound characteristics and prevalence of thyroid nodules in pediatric patients with goiter.
  • The study reviewed data from 262 patients under 18, finding that a significant number (80%) had abnormal thyroid ultrasounds, and 33.6% presented with thyroid nodules.
  • Findings suggest that patients with positive thyroid antibodies showed more variability in their thyroid ultrasounds, while those with negative antibodies were more likely to have nodules; papillary thyroid carcinoma was identified in some cases.
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  • Dyslipidemia, a key risk factor for atherosclerosis, affects about 25% of Saudi adolescents, with higher prevalence seen in males (33.3%) compared to females (17.9%).
  • The study analyzed data from 5,854 adolescents across all 13 regions in Saudi Arabia, revealing significant regional variations in dyslipidemia prevalence.
  • Factors linked to dyslipidemia included male gender, obesity (with higher risks for overweight and obese), serum ferritin levels, and daily intake of carbonated beverages, indicating a need for targeted public health interventions.
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  • Homozygous familial hypercholesterolemia (HoFH) is a rare genetic condition that leads to very high LDL cholesterol levels, increasing the risk of severe heart problems and early death; liver transplants are sometimes done to help manage the condition.
  • A study followed nine HoFH patients who underwent liver transplants across various centers in Europe and the Middle East, collecting data on their cholesterol levels and health outcomes for up to 28 years.
  • The results showed that liver transplants did not achieve desired LDL cholesterol targets for most patients, with many still needing cholesterol-lowering treatments afterward, indicating that transplants are not a definitive cure for HoFH.
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This cross-sectional study aimed to estimate the prevalence of obesity and its association with diabetes and hypertension among beneficiaries in the National Guard Health Affairs system of Saudi Arabia. We included individuals aged 17 years and older, and patients were classified as diabetic or hypertensive if they had any visit during the 4 years where the primary diagnosis was one of those conditions or they were taking diabetes or hypertension medications. The association between obesity (body mass index ≥30) and diabetes and hypertension were evaluated using a multiple logistic regression model, adjusting for age, gender, nationality, and region.

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Objectives: Recent studies have highlighted an increasing prevalence of depression and sleep problems among physicians during their residency training in the medical field. The study aims to explore the prevalence of depressive symptoms and sleepiness among the residents of different medical specialties in the two regions of KSA and describe the factors that potentially cause depression and sleepiness.

Methods: A survey was distributed to the residents of King Abdulaziz Medical City in the Riyadh province, and to the residents of King Fahad Specialist Hospital Buraidah and Maternity and Children's Hospital Buraidah in the Qassim province.

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Summary: The use of antihypertensive medications in patients with pheochromocytomas and paragangliomas (PCC/PG) is usually a challenge. We report a case of familial paraganglioma that was successfully treated by esmolol and other antihypertensive medications without associated perioperative complications. Our patient was an 11-year-old girl who presented with classic symptoms and signs of PCC/PG and a CT scan of the abdomen that showed a right-sided paravertebral mass.

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Introduction: Insulin resistance in obesity and type 2 diabetes mellitus (T2DM) is associated with cardiovascular complications such as atherosclerosis. On the other hand, the reduction of apoptosis in macrophages has been linked with accelerated atherosclerosis. Apoptosis is controlled by a different family of proteins including Bcl-2 and caspases.

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Metformin is widely used in the treatment of Type 2 Diabetes Mellitus (T2DM). However, it is known to have beneficial effects in many other conditions, including obesity and cancer. In this study, we aimed to investigate the metabolic effect of metformin in T2DM and its impact on obesity.

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Introduction: X-linked hypophosphatemia (XLH) is a rare inherited cause of hypophosphatemic rickets and osteomalacia. It is caused by mutations in the phosphate-regulating endopeptidase homolog, X-linked (PHEX). This results in increased plasma fibroblast growth factor-23 (FGF23), which leads to loss of renal sodium-phosphate co-transporter expression leading to chronic renal phosphate excretion.

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Obesity is associated with an increased risk of insulin resistance (IR) and type 2 diabetes mellitus (T2DM) which is a multi-factorial disease associated with a dysregulated metabolism and can be prevented in pre-diabetic individuals with impaired glucose tolerance. A metabolomic approach emphasizing metabolic pathways is critical to our understanding of this heterogeneous disease. This study aimed to characterize the serum metabolomic fingerprint and multi-metabolite signatures associated with IR and T2DM.

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Background: Although there is increasing evidence showing that cell senescence is increased in circulating PBMC in type 2 diabetes mellitus (T2DM), the data are contradictory. This study examined several senescence biomarkers, including LMNA/C transcript variants, p16, p53, and p21, in PBMC of T2DM patients and the effect of Metformin on these senescence markers.

Methods: Blood samples were obtained from 30 lean, 30 obese, 20 newly diagnosed type 2 diabetes mellitus (T2DM), and 30 T2DM on Metformin.

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Background: Interactions between environmental factors, such as diet and lifestyle, and metabolic pathways are pivotal in understanding aging mechanisms. hNAA40, Nicotinamide phosphoribosyltransferase (NAMPT), and NAD-dependent protein deacetylase sirtuin-1 (SIRT-1) have been shown to exert important biological processes, including stress response and aging.

Methods: hNAA40, NAMPT, and SIRT-1 mRNA expression in peripheral blood mononuclear cells (PBMC) were quantitated in 30 lean adult volunteers of normal weight, 30 obese, 20 drug-naïve obese Type 2 diabetes mellitus (T2DM), and 30 obese T2DM on Metformin.

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We report on a 3-year-old boy who has congenital adrenal hyperplasia and a suspected Van Maldergem syndrome, another genetic condition, with the classic phenotype seen in our patient. The latter diagnosis was supported by a genetic test that showed a novel and likely pathogenic variant in a previously described gene of the syndrome. Paediatricians do encounter such a challenge of coexisting genetic conditions albeit infrequently, and advanced genetic analysis, example whole exome sequencing, increasingly report variants of unknown significance with a variable degree of potential pathogenicity.

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Although peripheral blood mononuclear cells (PBMC) have been demonstrated to be in a pro-inflammatory state in obesity and type 2 Diabetes Mellitus (T2DM), characterization of circulating PBMC phenotypes in the obese and T2DM and the effect of Metformin on these phenotypes in humans is still ill-defined and remains to be determined. Thirty normal healthy adult volunteers of normal weight, 30 obese subjects, 20 obese newly diagnosed diabetics and 30 obese diabetics on Metformin were recruited for the study. Fasting blood samples were collected and PBMC were isolated from whole blood.

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Synopsis of recent research by authors named "Mohammed Al-Dubayee"

  • - Mohammed Al-Dubayee's recent research focuses on rare metabolic disorders and their management, particularly in pediatric populations, with notable studies including the efficacy of lomitapide for treating homozygous familial hypercholesterolemia (HoFH) and the establishment of a diabetes registry for children and adolescents.
  • - His investigations encompass genetic and phenotypic analyses of congenital generalized lipodystrophy in the Middle East, as well as the impact of metformin on lipid profiles and inflammatory markers in obese diabetic patients, underscoring the significance of personalized medicine in treating complex metabolic conditions.
  • - Al-Dubayee's work also addresses the intersection of autoimmune disorders and diabetes in children, specifically examining cytokine profiles and predictive factors for post-operative complications in pediatric tumors, thereby contributing to a broader understanding of pediatric endocrine health challenges in Saudi Arabia.

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