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7
result(s) for
"Alhussaini, Bakr H."
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TagSNP approach for HLA risk allele genotyping of Saudi celiac disease patients: effectiveness and pitfalls
2021
Background: Celiac disease (CD) is a genetically complex autoimmune disease which is triggered by dietary gluten. Human leukocyte antigen (HLA) class II genes are known to act as high-risk markers for CD, where >95% of CD patients carry (HLA), DQ2 and/or DQ8 alleles. Therefore, the present study was conducted to investigate the distribution of HLA haplotypes among Saudi CD patients and healthy controls by using the tag single nucleotide polymorphisms (SNP). Methods: HLA-tag SNPs showing strong linkage value (r2>0.99) were used to predict the HLA DQ2 and DQ8 genotypes in 101 Saudi CD patients and in 103 healthy controls by using real-time polymerase chain reaction technique. Genotype calls were further validated by Sanger sequencing method. Results: A total of 63.7% of CD cases and of 60.2% of controls were predicted to carry HLA-DQ2 and DQ8 heterodimers, either in the homozygous or heterozygous states. The prevalence of DQ8 in our CD patients was predicted to be higher than the patients from other ethnic populations (35.6%). More than 32% of the CD patients were found to be non-carriers of HLA risk haplotypes as predicted by the tag SNPs. Conclusion: The present study highlights that the Caucasian specific HLA-tag SNPs would be of limited value to accurately predict CD specific HLA haplotypes in Saudi population, when compared with the Caucasian groups. Prediction of risk haplotypes by tag SNPs in ethnic groups is a good alternate approach as long as the tag SNPs were identified from the local population genetic variant databases.
Journal Article
Rare variant burden analysis from exomes of three consanguineous families reveals LILRB1 and PRSS3 as potential key proteins in inflammatory bowel disease pathogenesis
by
Qari, Yousef
,
Elango, Ramu
,
Alhussaini, Bakr H.
in
Crohn's disease
,
gastrointestinal tract
,
Gene expression
2023
Inflammatory bowel disease (IBD) is a chronic autoimmune disorder characterized by severe inflammation and mucosal destruction of the intestine. The specific, complex molecular processes underlying IBD pathogenesis are not well understood. Therefore, this study is aimed at identifying and uncovering the role of key genetic factors in IBD.
The whole exome sequences (WESs) of three consanguineous Saudi families having many siblings with IBD were analyzed to discover the causal genetic defect. Then, we used a combination of artificial intelligence approaches, such as functional enrichment analysis using immune pathways and a set of computational functional validation tools for gene expression, immune cell expression analyses, phenotype aggregation, and the system biology of innate immunity, to highlight potential IBD genes that play an important role in its pathobiology.
Our findings have shown a causal group of extremely rare variants in the
(Q53L, Y99N, W351G, D365A, and Q376H) and
(F4L and V25I) genes in IBD-affected siblings. Findings from amino acids in conserved domains, tertiary-level structural deviations, and stability analysis have confirmed that these variants have a negative impact on structural features in the corresponding proteins. Intensive computational structural analysis shows that both genes have very high expression in the gastrointestinal tract and immune organs and are involved in a variety of innate immune system pathways. Since the innate immune system detects microbial infections, any defect in this system could lead to immune functional impairment contributing to IBD.
The present study proposes a novel strategy for unraveling the complex genetic architecture of IBD by integrating WES data of familial cases, with computational analysis.
Journal Article
Prevalence of Esophageal Eosinophilia, Eosinophilic Esophagitis, and Lymphocytic Gastritis in Children with Celiac Disease: A Saudi Tertiary Center Experience
2024
Background. Celiac disease (CD) is an immune-mediated enteropathy that has been associated with other immune-related gastrointestinal disorders, such as eosinophilic esophagitis (EoE) and lymphocytic gastritis (LG). To our knowledge, this is the first study in Saudi Arabia that has described such an association. Aim. To evaluate the prevalence of EoE and LG in children and adolescents with CD. Methods. This was a retrospective cross-sectional study of all pediatric patients (aged 0–18 years) with CD following up at King Abdulaziz University Hospital, between January, 2014, and December, 2021. The study examined clinical, demographic, endoscopic, and histopathological data. Results. Seventy-five patients with CD were included in the analysis. The median age was 12 years (range, 2–18 years). Male constituted 54.7% of the overall cohort (n = 41). The most common clinical symptoms were short stature (54.7%), weight loss (34.7%), abdominal pain (33.3%), abdominal distension (29.3%), anorexia (29.3%), diarrhea (24%), and vomiting (21.3%). The esophageal biopsy results reported were basal cell hyperplasia in 24 patients (32.9%), esophageal eosinophilia in 23 patients (31.5%), and EoE in 3 patients (4.1%). The gastric biopsy results were normal in 40 patients (53.3%). The most common abnormality was chronic inactive gastritis with no Helicobacter pylori (HP) infection (16%). LG was found in 3 patients (4%). Conclusions. The prevalence of EoE in this cohort of patients with CD was lower than the prevalence recorded in a number of other studies. Further studies are needed to determine the effects of a gluten-free diet (GFD) on EOE and LG.
Journal Article
The Prevalence and Trends of the Early Introduction of Cow Milk to Newborns at Tertiary Care Center: A Risk of Atopy
by
Atwah, Ali F.
,
Alsaedi, Saad A.
,
Koshak, Emad A.
in
Babies
,
Birth weight
,
Breastfeeding & lactation
2021
Although all health organizations recommend exclusive breastfeeding (EBF), few neonates meet these recommended goals. The early intake of cow milk formulas (CMFs) has been linked to several childhood illnesses, including atopic diseases. Therefore, this study aimed to evaluate the prevalence of early exposure to CMFs in the nursery of a tertiary care hospital in Jeddah, Kingdom of Saudi Arabia. A retrospective review was conducted on the medical records of feeding practices of neonates born in King Abdulaziz University Hospital (KAUH) at Jeddah, Kingdom of Saudi Arabia. Two months from each year (May and December) were selected over the last five years. Approval from the ethical research committee at KAUH was obtained. Eight hundred and ninety-four different neonate files were reviewed. Four hundred and eighty-seven (54.5%) were males. Out of the total of 894, 838 (93.7%) newborns experienced an early introduction to CMFs, 797 (89.1%) received mixed CMF and breast milk, 41 (4.6%) received CMF only, and 56 (6.3%) received exclusive breastfeeding (EBF). Surprisingly, EBF has declined over time, from 39% in May 2016 to 1% in December 2020. The prevalence of early exposure to CMF was very high in newborns at KAUH nursery, and this prevalence was trending upwards. Extensive teaching programs on EBF and allergy prevention for mothers and related health care providers are highly recommended
Journal Article
The impact of COVID-19 on the sustainability of the environment, animal health and food security, and safety
by
Alhajri, Salah
,
Alshubaith, Ibrahim H.
,
Azhar, Esam I.
in
air pollution
,
Air Pollution - analysis
,
animal health
2022
COVID-19 pandemic influenced the environment, animal health, and food security. Due to reduced human mobility, the air and water quality increased. Other environmental consequences were the personal protective types of equipment and their haphazard disposal. Atmospheric pollution could be a cofactor leading to an increased COVID-19 mortality rate. Lockdown, however, caused a reduction in air and water pollution. Noise pollution affects the health of individuals and communities in terms of cardiovascular disorders and sleeping problems. Meanwhile, the COVID-19 lockdown controls human activities that reduce noise pollution. Municipal waste affects the environment. Recycling has been reduced in some countries but not in Saudi Arabia. COVID-19 had a drastic effect on livestock production on national, regional, and global levels, affecting countries' capacities to prevent and control diseases of animals and increasing global poverty, becoming a threat to the sustainability of global food security and safety. Many lessons have been learned from the COVID-19 pandemic, so it is wise to study and analyze the previous lessons and shed some light on past pandemics such as the Spanish flu to understand the readings and earn experiences. This paper is focused on the interaction between the pandemic and environmental health from the public health concern rather than other health classifications.
Journal Article
RETRACTED ARTICLE: The impact of COVID-19 on the sustainability of the environment, animal health and food security, and safety
by
Alhajri, Salah
,
Alshubaith, Ibrahim H.
,
Azhar, Esam I.
in
Aquatic Pollution
,
Atmospheric Protection/Air Quality Control/Air Pollution
,
Earth and Environmental Science
2022
COVID-19 pandemic influenced the environment, animal health, and food security. Due to reduced human mobility, the air and water quality increased. Other environmental consequences were the personal protective types of equipment and their haphazard disposal. Atmospheric pollution could be a cofactor leading to an increased COVID-19 mortality rate. Lockdown, however, caused a reduction in air and water pollution. Noise pollution affects the health of individuals and communities in terms of cardiovascular disorders and sleeping problems. Meanwhile, the COVID-19 lockdown controls human activities that reduce noise pollution. Municipal waste affects the environment. Recycling has been reduced in some countries but not in Saudi Arabia. COVID-19 had a drastic effect on livestock production on national, regional, and global levels, affecting countries’ capacities to prevent and control diseases of animals and increasing global poverty, becoming a threat to the sustainability of global food security and safety. Many lessons have been learned from the COVID-19 pandemic, so it is wise to study and analyze the previous lessons and shed some light on past pandemics such as the Spanish flu to understand the readings and earn experiences. This paper is focused on the interaction between the pandemic and environmental health from the public health concern rather than other health classifications.
Journal Article