Prevalence of Gaucher Disease (GD) in Patients with Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia: A Multicenter Cross-sectional Study Protocol (Preprint)
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorder... more UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 mil...
The recent unprecedented emergence of the monkeypox (MPX) outbreak rang an alarm bell creating a ... more The recent unprecedented emergence of the monkeypox (MPX) outbreak rang an alarm bell creating a burden on global health. The virus historically spread in endemic regions of sub-Saharan Africa by animalhuman and human-human modes of transmission with an unknown modality. Currently, cases are occurring worldwide while risk factors, transmission, and outcomes of infection are still poorly defined. In addition, the likely genotypic mutation of MPX is an area of concern and requires further assessment. While licensed smallpox vaccinations are currently considered for early prevention after recent exposure, and antivirals are recommended for treating severe cases, there are no treatments available to treat MPX. This review provides general disease awareness and highlights recommendations for the containment of the virus.
This article explores the impact of COVID-19 vaccination on public health in Canada and the Unite... more This article explores the impact of COVID-19 vaccination on public health in Canada and the United States. Using OpenAI's GPT-3 language model, data was extracted from various online sources, including government health agencies, news articles, academic papers, and social media platforms. The data was analyzed using natural language processing techniques to identify common themes and sentiments. Despite the staggering death toll and impact on everyday life, the rollout of vaccines marks a critical milestone in the fight against the virus. However, challenges remain, including skepticism from some members of the public and the emergence of new virus variants. The early data is encouraging, showing a significant reduction in COVID-19 cases, hospitalizations, and deaths in vaccinated populations. The article emphasizes the critical role of vaccines in controlling the spread of the virus, alongside other public health measures, to overcome this devastating pandemic. The findings sug...
Presently, Gulf Cooperation Council countries are lagging in the generation of real-world data an... more Presently, Gulf Cooperation Council countries are lagging in the generation of real-world data and use of real-world evidence for patient-centered care compared with the global average. In a collaborative effort, experts from multiple domains of the healthcare environment from the Gulf Cooperation Council countries came together to present their views and recommended key action points for the generation of robust real-world data and leveraging real-world evidence in the countries. The opinions of the experts are presented, along with existing barriers to the effective generation of real-world evidence in the countries. The Gulf Cooperation Council countries are undergoing transformative changes paving the way for improved healthcare measures; however, the challenges in generating reliable, robust, accessible, and secure real-world evidence are persistent. Hence, ongoing public-private engagements, as well as collaborations between regulators, policymakers, healthcare professionals, insurance and pharmaceutical companies, and patients, are warranted. A few notable examples of real-world evidence studies highlighting the benefits of real-world evidence for gaining valuable insights into patient-centric decision making are also discussed. The actionable steps identified for successful real-world evidence generation would provide long-term, real-world evidence-based patient-centric benefits for the countries.
The recent unprecedented emergence of the monkeypox (MPX) outbreak rang an alarm bell creating a ... more The recent unprecedented emergence of the monkeypox (MPX) outbreak rang an alarm bell creating a burden on global health. The virus historically spread in endemic regions of sub-Saharan Africa by animalhuman and human-human modes of transmission with an unknown modality. Currently, cases are occurring worldwide while risk factors, transmission, and outcomes of infection are still poorly defined. In addition, the likely genotypic mutation of MPX is an area of concern and requires further assessment. While licensed smallpox vaccinations are currently considered for early prevention after recent exposure, and antivirals are recommended for treating severe cases, there are no treatments available to treat MPX. This review provides general disease awareness and highlights recommendations for the containment of the virus.
Understanding the pathogenic and nonpathogenic mutations and implications of α-galactosidase variant D313Y in Fabry disease
International Journal of Medicine in Developing Countries
Fabry disease (FD) is a rare, progressive, inherited disorder resulting from a markedly deficient... more Fabry disease (FD) is a rare, progressive, inherited disorder resulting from a markedly deficient enzyme activity of α-galactosidase A (AGAL), which is caused by mutations in the X-linked α-galactosidase A (GLA) gene. FD is perceived as a multidomain or a heterogeneous disease phenotype associated with complex pathophysiological manifestations and cascading pathways. The AGAL activity accurately predicts the severity of FD. It is vital to study the variants related to FD in the Gulf region because the existing population is mixed, and a founder gene, if predominant in any generation, leads to greater birth rates of autosomal recessive disorders. Identifying the pathogenicity of GLA mutations plays a crucial role in diagnosing and treating FD. We conducted an extensive review of the literature. We pooled data from randomized controlled trials, retrospective observational trials, systematic reviews, and case reports on p.D313Y variant pathogenicity versus nonpathogenicity and clinical...
Common c.-32-13T>G mutations of the acid α-glucosidase gene in Pompe disease: an updated literature review
International Journal of Medicine in Developing Countries
Pompe disease is a multisystemic metabolic rare disease caused by the deficiency of the lysosomal... more Pompe disease is a multisystemic metabolic rare disease caused by the deficiency of the lysosomal enzyme acid-α-glucosidase (GAA) leading to progressive muscle weakness, organomegaly, respiratory failure, and ultimately death. The inotropic c.-32-13T > G mutation is a commonly reported mutation among cases with late-onset Pompe disease and presents in 40%-90% of the cases, with predominance among Caucasian Populations. In addition, c.1856G > A missense mutation effectively reduces GAA activity and is associated with an intermediate disease course. To date, the mechanisms by which the c.-32-13T > G mutation affects GAA mRNA splicing and c.1856G > A affects GAA activity are not fully known. Therefore, this manuscript reviews the current literature describing the frequency of c.-32-13T > G and c.1856G > A variation in Pompe disease patients and the mechanisms underlying these variations.
Prevalence of Fabry Disease in Chronic Kidney Disease Patients in Saudi Arabia: A Multicenter, Cross-sectional, Study Protocol
American Journal of Medicine and Medical Sciences, 2021
Prevalence of Gaucher disease in patients with unknown cause of splenomegaly and/ or thrombocytopenia in Saudi Arabia: a multicenter cross-sectional study protocol
International Journal of Medicine in Developing Countries
Mucopolysaccharidosis (MPS I): Disease Knowledge and Patients Journey in Saudi Arabia and Gulf Region
International Journal of Medicine in Developing Countries
Prevalence of Fabry Disease in Patients with Hypertrophic Cardiomyopathy in Saudi Arabia: A Multicenter Cross-Sectional Screening Study Protocol
American Journal of Medicine and Medical Sciences, 2021
Diagnosis and Management of Pompe Disease in Saudi Arabia
American Journal of Medicine and Medical Sciences, 2021
Open Access Macedonian Journal of Medical Sciences, 2020
Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular ... more Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular accumulation of glycosaminoglycans with subsequent cellular and organ dysfunction. In the Middle East, especially Saudi Arabia, higher prevalence of MPS type I was observed compared to reported rates from European countries and the United States (U.S). The present work was developed as a part of the Saudi MPS Group’s efforts to address the current situation of MPS type I in Saudi Arabia and to reach a national consensus in the management of MPS type I. The first “Management of MPS Type I Advisory Board” meeting was held in Riyadh on May 2, 2019, to reflect the expert opinions regarding different aspects of MPS type I and develop this manuscript; eight consultants from different specialties (medical genetics, pediatric rheumatology, and pediatric endocrinology), representing six Saudi institutions, in addition to a global expert in genetics participated in the meeting.
Open Access Macedonian Journal of Medical Sciences, 2020
Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular ... more Mucopolysaccharidosis (MPS) is a group of rare disorders that are characterized by intracellular accumulation of glycosaminoglycans with subsequent cellular and organ dysfunction. In the Middle East, especially Saudi Arabia, higher prevalence of MPS type I was observed compared to reported rates from European countries and the United States (U.S). The present work was developed as a part of the Saudi MPS Group’s efforts to address the current situation of MPS type I in Saudi Arabia and to reach a national consensus in the management of MPS type I. The first “Management of MPS Type I Advisory Board” meeting was held in Riyadh on May 2, 2019, to reflect the expert opinions regarding different aspects of MPS type I and develop this manuscript; eight consultants from different specialties (medical genetics, pediatric rheumatology, and pediatric endocrinology), representing six Saudi institutions, in addition to a global expert in genetics participated in the meeting.
Severe acute respiratory syndrome coronavirus (SARS-CoV-2), a novel corona virus, causing COVID-1... more Severe acute respiratory syndrome coronavirus (SARS-CoV-2), a novel corona virus, causing COVID-19 with Flu-like symptoms is the first alarming pandemic of the third millennium. SARS-CoV-2 belongs to beta coronavirus as Middle East respiratory syndrome coronavirus (MERS-CoV). Pandemic COVID-19 owes devastating mortality and destructively exceptional consequences on Socio-Economics life around the world. Therefore, the current review is redirected to the scientific community to owe comprehensive visualization about SARS-CoV-2 to tackle the current pandemic. As systematically shown through the current review, it indexes unmet medical problem of COVID-19 in view of public health and vaccination discovery for the infectious SARS-CoV-2; it is currently under-investigational therapeutic protocols, and next possible vaccines. Furthermore, the review extensively reports the precautionary measures to achieve" COVID-19/Flatten the curve". It is concluded that vaccines formulation wi...
Gaucher disease (GD) is an inherited autosomal recessive lysosomal storage disease resulting from... more Gaucher disease (GD) is an inherited autosomal recessive lysosomal storage disease resulting from biallelic mutations in the Glucocerebrosidase gene located on chromosome 1q21. The sub-acute neuronopathic form, Gaucher disease type 3c, is commonly identified in the Arab population and associated with cardiac manifestations. It is uniquely linked to homozygosity for the D409H gene mutation in all identified mutated alleles. Despite being a commonly identified Gaucher genotype in the region, few reports of D409H mutation have been reported in the Middle East. Nevertheless, the increased rate of consanguinity among Arabs, ranging from 10% to 70%, contributes to a high rate of genetic diseases, including GD. However, with its associated gene mutation, GD, D409H, remains an area for further exploration in the Gulf area.
Mucopolysaccharidosis Type I Disease Prevalence Among Patients With Idiopathic Short Stature in Saudi Arabia: Protocol for a Multicenter Cross-sectional Study (Preprint)
BACKGROUND Since the underlying cause of idiopathic short stature can indeed be undiagnosed mucop... more BACKGROUND Since the underlying cause of idiopathic short stature can indeed be undiagnosed mucopolysaccharidosis type I, it is critical to identify patients with mucopolysaccharidosis type I among screened patients with idiopathic short stature. OBJECTIVE The primary objective of this study is to determine the prevalence of mucopolysaccharidosis type I disease in a high-risk group (ie, patients with idiopathic short stature). METHODS We plan to perform a multicenter, cross-sectional screening study to primarily assess the prevalence of mucopolysaccharidosis type I disease in patients with idiopathic short stature. All eligible patients will be tested after obtaining written informed consent from their parents and guardians. Eligible patients will be recruited over 18 months from specialty care centers for pediatrics and genetics. RESULTS This protocol was approved by the Institutional Review Board of King Fahd Medical City and funded by Sanofi Genzyme Saudi Arabia. We expect to col...
Prevalence of Gaucher Disease (GD) in Patients with Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia: A Multicenter Cross-sectional Study Protocol (Preprint)
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorder... more UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 mil...
Prevalence of Gaucher Disease (GD) in Patients with Unknown Cause of Splenomegaly and/or Thrombocytopenia in Saudi Arabia: A Multicenter Cross-sectional Study Protocol (Preprint)
UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorder... more UNSTRUCTURED Background: Gaucher disease (GD) is the commonest form of Lysosomal storage disorders that are characterized by the accumulation of glucosylceramide within the lysosomes of cells that are ordinarily degraded to glucose and lipid components. The primary objective of this study is to determine the prevalence of Gaucher Disease in a high-risk group (defined as patients with splenomegaly and/or thrombocytopenia of unknown cause). Methods: The present multicenter, cross-sectional, study will include patients presenting with signs of splenomegaly and/or thrombocytopenia over a period of 12 months with no definitive cause. Eligible patients will be assessed for acid β-glucosidase and acid sphingomyelinase enzymes activity using dried blood spot (DBS) samples. A total of 400 patients from Saudi Arabia who fulfill the eligibility criteria will be enrolled in the study. Discussion: Saudi Arabia is the largest country in the Arabian Peninsula, with a population of more than 28 mil...
Uploads
Papers by Yahia Aktham