Familial hypercholesterolemia (FH) is a globally underdiagnosed genetic condition associated with premature cardiovascular death. The genetic etiology data on Arab FH patients is scarce. Therefore, ...this study aimed to identify the genetic basis of FH in a Saudi family using whole exome sequencing (WES) and multidimensional bioinformatic analysis. Our WES findings revealed a rare heterozygous gain-of-function variant (R496W) in the exon 9 of the
gene as a causal factor for FH in this family. This variant was absent in healthy relatives of the proband and 200 healthy normolipidemic controls from Saudi Arabia. Furthermore, this variant has not been previously reported in various regional and global population genomic variant databases. Interestingly, this variant is classified as "likely pathogenic" (PP5) based on the variant interpretation guidelines of the American College of Medical Genetics (ACMG). Computational functional characterization suggested that this variant could destabilize the native
protein and alter its secondary and tertiary structural features. In addition, this variant was predicted to negatively influence its ligand-binding ability with
and Alirocumab antibody molecules. This rare
(R496W) variant is likely to expand our understanding of the genetic basis of FH in Saudi Arabia. This study also provides computational structural insights into the genotype-protein phenotype relationship of
pathogenic variants and contributes to the development of personalized medicine for FH patients in the future.
To determine the prevalence of celiac disease (CeD) in children with short stature (SS) and growth hormone deficiency (GHD).
This is a retrospective study of patients with isolated SS and GHD, ...diagnosed during the period 2002 to 2016. Their medical records were reviewed and serum tissue transglutaminase (tTG) antibody results retrieved. Patients with positive serology results underwent upper gastrointestinal endoscopy and small bowel biopsy to confirm the diagnosis of CeD. Clinical, anthropometric, and laboratory data were recorded for all patients.
Of the 351 patients identified with GHD, 199 (56.7%) were male. The mean age±SD was 9.0±3.7 years (range: 2-17.6 years), and the mean±SD height-for-age z score was -2.9±1.3. Partial GHD constituted 42.2% and severe GHD constituted 57.8% of GHD diagnoses. The mean growth hormone (GH) peak level was 5.8±3.9 ng/ml. Forty-seven patients (13.4%) had positive serology, and 14 (4%) had biopsy-proven CeD. No predictors could be identified through binary logistic regression analysis.
A prevalence of CeD seropositivity was found in 13.4% and overt CeD in 4% of children with GHD. The finding of GHD should not preclude the search for CeD, because the majority will potentially improve on a gluten-free diet (GFD).
Purpose
There is limited knowledge about oral health-related quality of life (OHRQoL) in children with celiac disease (CD). This study aimed to assess OHRQoL in children with CD compared to healthy ...controls.
Methods
This case–control study included children with CD and healthy controls. Three scales were used to assess OHRQoL in different age groups: 6–7 years, 8–10 years, and 11–14 years. The OHRQoL scores were compared between cases and controls to examine the possible associations between OHRQoL and demographics, socioeconomic status, and oral health.
Results
Overall, 104 children with CD and 104 healthy children (controls) were included. The mean age was 10.67 ± 2.39 years in CD patients and 10.69 ± 2.36 in controls (
P
= 0.971). Male and female children constituted 50% of each group. Children with CD had significantly higher OHRQoL scores than controls (
P
= 0.003). Low education levels of parents of children with CD and a higher number of siblings in controls were associated with high OHRQoL scores (
P
= 0.002,
P
< 0.020, and
P
= 0.010, respectively). Recurrent aphthous stomatitis (RAS) increased the OHRQoL scores by 7.5 on average (
P
= 0.016).
Conclusion
Children with CD had poor OHRQoL compared with healthy controls. Poor OHRQoL in children with CD was associated with RAS and with lower parental income and education. RAS was an independent predictor of poor OHRQoL in children with CD.
Objectives
To describe the clinical, histopathologic, and outcomes data for a cohort of patients with biliary atresia (BA), and to identify the factors affecting survival.
Methods
This was a ...cross-sectional study of all BA patients diagnosed between 1999 and 2017. Clinical, biochemical, imaging, and histopathologic data were analyzed, and Kaplan–Meier survival rates were compared to identify potential prognostic factors.
Results
We evaluated 23 patients. The median age at the Kasai procedure was 77 ± 34 days, and the median overall survival was 12.5 ± 65 months. Thirteen (56%) patients survived with their native livers, 3 (13%) received a transplant, and 6 died (26%) while awaiting a transplant. Cholangitis and the use of ursodeoxycholic acid were associated with longer survival, while impaired synthetic function was associated with shorter survival.
Conclusions
Most patients presented late for the Kasai procedure. The survival rate with the native liver was comparable to other cohorts. Therefore, clinicians are encouraged to refer for the Kasai procedure even with late presentation (between 60 and 90 days), provided there is no hepatic decompensation.
Objectives: To determine the prevalence of celiac disease (CeD) in children with short stature (SS) and growth hormone deficiency (GHD). Methods: This is a retrospective study of patients with ...isolated SS and GHD, diagnosed during the period 2002 to 2016. Their medical records were reviewed and serum tissue transglutaminase (tTG) antibody results retrieved. Patients with positive serology results underwent upper gastrointestinal endoscopy and small bowel biopsy to confirm the diagnosis of CeD. Clinical, anthropometric, and laboratory data were recorded for all patients. Results: Of the 351 patients identified with GHD, 199 (56.7%) were male. The mean age±SD was 9.0±3.7 years (range: 2-17.6 years), and the mean±SD height-for-age z score was -2.9±1.3. Partial GHD constituted 42.2% and severe GHD constituted 57.8% of GHD diagnoses. The mean growth hormone (GH) peak level was 5.8±3.9 ng/ml. Forty-seven patients (13.4%) had positive serology, and 14 (4%) had biopsy-proven CeD. No predictors could be identified through binary logistic regression analysis. Conclusion: A prevalence of CeD seropositivity was found in 13.4% and overt CeD in 4% of children with GHD. The finding of GHD should not preclude the search for CeD, because the majority will potentially improve on a gluten-free diet (GFD).
Background Celiac disease (CeD) is an immune-mediated enteropathy induced by gluten exposure in individuals with genetic susceptibility. Short stature (SS) can be the sole clinical manifestation of ...CeD, in the absence of gastrointestinal (GI) symptoms. This study aimed to determine the prevalence of CeD in Saudi Arabian children with SS. Patients and methods Medical records were reviewed in a total number of 275 retrospective cases (during the period 2002-2014) of children with isolated SS from King Abdulaziz University Hospital, Jeddah. Their serum samples were tested with tissue transglutaminase (tTG) antibodies. Patients with a positive serology were scheduled for an upper endoscopy and intestinal biopsy to confirm CeD diagnosis before starting a gluten-free diet (GFD). Clinical, anthropometric and laboratory data were recorded for all patients. Results A total of 275 children with SS were included. The mean age ± standard deviation (SD) was 9.4 ± 4.0 years (range, 2.6-16.9 years) and males constituted the predominant gender group (151/275; 54.9%) over females (124/275; 45.1%). The mean ± SD height for age z score (HAZ) was -2.9 ± 1.0.Thirty-eight (13.8%) had positive serology, and 16 (5.8%) had biopsy-proven CeD. Apart from the difference in duration of delayed bone age between CeD patients and CeD-negative serology subjects (mean ± SD, 39.6 ± 10.5 vs. 18.6 ± 16.8, p = 0.02), no other major difference in other clinical or laboratory parameters was evident. Conclusions The prevalence rate of CeD in Saudi Arabian SS children was 5.8%, which is comparable to published reports of a number of other countries. Regular screening of children with SS is therefore justifiable.
Celiac disease (CD) is an immune-mediated enteropathy. CD may also involve complications with the oral cavity, which can result in various dental and oral pathologies. There are currently a limited ...number of studies on the oral manifestation of CD. This study aims to compare the oral manifestations of children with CD against healthy controls in Saudi Arabia.
This study includes 208 children aged 6-14 years, distributed equally into CD patients and healthy controls. A parent completed and validated the interview questionnaire, which included the child's personal information and medical history. A dental examination was undertaken to measure possible recurrent aphthous stomatitis (RAS), dental enamel defects (DEDs), dental caries experience, and dental malocclusion. Data were analyzed using descriptive statistics and bivariate and multivariate analysis.
Two hundred and eight participants were included (104 CD patients and 104 controls). The mean age for CD patients was 10.67 ± 2.39 years and 10.69 ± 2.36 for the healthy controls. CD children had more RAS than controls (42.3% vs. 15.4%, P < 0.001) (OR = 4.03, 95% CI = 2.09-7.81) and more DEDs than healthy controls (70.2% vs. 34.6%, P < 0.001) (OR = 4.45, 95% CI = 2.48-7.97). No significant difference was found in the frequency of malocclusion between cases and controls.
Saudi Arabian children with CD had a greater number of clinical findings of RAS and DEDs than healthy controls. Pediatric dentists should consider the possibility of CD in child patients presenting with RAS or DEDs.
The results of this study provide an overview of the variations in microbiota diversity present in Saudi IBD patients compared to healthy controls.
The key finding was three negative bacterial ...biomarkers, Paraprevotellaceae, the Muribaculaceae families of Bacteroidetes phylum, and the Leuconostocaceae family of Firmicutes phylum, which had a higher relative abundance in healthy individuals compared to IBD patients. It was also found that primary microbiota signatures at certain genera and species levels, including Prevotella copri, Bifidobacterium adolescentis, Ruminococcus callidus, Coprococcus sp., Ruminococcus gnavus, Dorea formicigenerans, Leuconostoc, Dialister, Catenibacterium, Eubacterium biforme, and Lactobacillus mucosae, were absent in almost all IBD patients, while Veillonella dispar was absent in all healthy individuals.
After obtaining an informed consent, fecal samples were collected from 11 participants with IBD (patients) and 10 healthy individuals (controls). The bacterial components of the microbial population were identified by next-generation sequencing of partial 16S rRNA. Statistically significant dissimilarities were observed between samples for all metrics.
Inflammatory bowel disease (IBD) is a chronic intestinal inflammatory condition attributed to a complex interaction between imbalances in the gut microbiome, environmental conditions, and a deregulated immune response. The aim of the study was to investigate the composition of the gut microbiome of Saudi patients with IBD.
As the population ages, the number of elderly inflammatory bowel disease (IBD) patients is expected to increase. The clinical features and therapeutic options for young and old patients may differ, ...as elderly IBD patients are likely to have different comorbidities and disease characteristics. The goal of this study was to examine the clinical aspects and therapeutic choices for elderly Saudi IBD patients.
We conducted a retrospective study aimed at describing the demographic, clinical, and management characteristics of IBD in elderly patients (≥60 years) who followed up at King Abdulaziz University Hospital (KAUH), Jeddah, Saudi Arabia. The data was extracted from the KAUH inflammatory bowel disease information system (IBDIS) registry. The primary outcome was to describe disease characteristics in accordance with the Montréal classification and the secondary outcomes were to describe treatment patterns and identify significant clinical associations.
Our data were collected from 76 patients who fulfilled the study inclusion criteria. Females outnumbered males (53.9% vs 46.1%) and the mean age was 51.5 ± 9.7 years. Essential hypertension (26.3%) was the most common comorbidity followed by diabetes mellitus (23.6%), and malignant neoplasms (9.21%). More than half of the patients with Crohn's disease (CD) had disease onset after forty years of age. The most common form of disease distribution was ileocolonic disease (64.7%). Less than 17% of patients had a penetrating disease phenotype. About 88 percent of patients with UC presented >40 years of age. Approximately, half of the cohort had left-sided ulcerative colitis (UC) (48%), followed by pancolitis (40%). The most prescribed medication class for IBD was 5-aminosalicylic acid (5-ASA) derivatives (56.58%) followed by corticosteroids and immunosuppressive drugs.
In Saudi Arabia, age-specific concerns including comorbidities and polypharmacy remain the major challenges in the management of elderly IBD patients.
Background: Crohn's disease (CD) is a complex autoimmune disease that results in chronic inflammation of the gastrointestinal tract. CD activity is determined through clinical, laboratory, ...endoscopic, and radiological evaluations. Studies that examine the data of radiological modalities of evaluation are lacking, particularly in Saudi Arabia. This study compares magnetic resonance enterography (MRE) and ultrasonography (US) findings among patients diagnosed with CD, to uncover a possible correlation between these techniques.
Methods: All patients were assessed for disease activity using MRE and US.
Results: A total of 376 patients with CD were recruited. The mean age was 14.9 ± 4.3 years (range, 8-27 years), and males constituted 64% (n = 239) of the cohort. Overall, a strong positive correlation was found between US and MRE evaluations of disease activity (r = 0.83, P < 0.001). US activity correlated positively with MRE findings of enlarged lymph nodes (P < 0.001), bowel wall enhancement (P < 0.001), distal jejunal thickness (P < 0.001), and distal ileal thickness (P < 0.001). The mean difference in wall thickness was significant based on gender (P < 0.001), age in proximal jejunal thickness (P < 0.001), and distal ileal thickness (P = 0.011).
Conclusions: MRE and US correlate significantly as imaging techniques for the assessment of CD activity.
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