A nationwide cross-sectional study in Saudi Arabia for the assessment of understanding and practices of clinicians towards personalized genetic testing.

In order to plan and facilitate the culture of personalized / precision medicine in medical practices within any healthcare institution, it is requisite for healthcare professionals like clinicians to have a clear understanding and approach towards the practices of personalized genetic testing. This nationwide cross-sectional study aimed to measure the perceptions and knowledge of clinicians towards personalized genetic testing and assess their current practices of personalized genetic testing in clinical settings through an online self-administered questionnaire in Saudi Arabia. The results of the study revealed that almost two-fifths of participants were responsible for ordering genetic tests directly (39.

Effect of the COVID-19 Lockdown on Pediatric Bronchial Asthma Patients in Saudi Arabia: A Comparative Study.

Background: The lockdowns imposed during the COVID-19 pandemic and social distancing measures may have decreased traffic and air pollution, which may contribute to reducing asthma exacerbation. However, there is not enough information about the relationship between asthma and COVID-19 lockdown, especially in children. Therefore, the aim of this study is to identify the effects of the COVID-19 lockdown on pediatric patients with moderate to severe bronchial asthma.

Two-Month Duration of Esophageal Button Battery Impaction in a 23-Month-Old Boy: A Case Report.

Ingestion of foreign bodies, particularly button batteries (BB), is a common pediatric emergency. Esophageal impaction of BB is associated with life-threatening complications. Damage can be manifested within hours from ingestion; therefore, immediate removal is recommended.

Ocular findings in the evaluation of abusive head trauma in children.

Purpose: Abusive head trauma (AHT) is a form of child physical abuse that can result in major ocular injuries. This study describes the clinical presentation and ocular manifestations of infants diagnosed with AHT in a tertiary care center in Saudi Arabia.

Methods: This is an observational, retrospective, cross-sectional study from 2015 to 2022 conducted at King Abdullah Specialized Children's Hospital (KASCH) in Riyadh, Saudi Arabia.

Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to 1:170,000. This expert review evaluates the available guidelines, the status of diagnosed but untreated patients with FD, and the challenges in diagnosing and managing FD in the Kingdom of Saudi Arabia (KSA).

Effect of robotic-assisted gait training program on spatiotemporal gait parameters for ambulatory children with cerebral palsy: A randomized control trial.

Background: Gait training programs are commonly used to improve gait in children with cerebral palsy (CP).

Objective: To compared the effects of robotic-gait assistant training (RAGT) and conventional body weight support treadmill training (CBWSTT) on gait parameters among ambulatory children with CP.

Methods: The study is a randomized controlled trial of 36 children (17 in the RAGT group and 19 in the CBWSTT group) aged 5 to 14.

Segments 4, 7, and 8 liver resection: A case report.

Right superior resection (segments 7 and 8) is an uncommon resection for liver malignancies, with most of the literature limited to case reports and small series. Resection of segments 4, 7, and 8 has been reported in only a few cases. When the right hepatic vein is resected, venous reconstruction or identification of one or more right inferior hepatic veins is considered mandatory, to maintain segmentary function of segments 5 and 6.

Combined Urinary Reconstruction During en Bloc Kidney Transplantation From a Pediatric Donor to an Adult Recipient: A Case Report.

Urinary reconstruction during en bloc kidney transplantation is challenging, with different techniques described. Here, we report a case of combined urinary reconstruction using modified Lich ureteroneocystostomy and ureteroureterostomy.

Drug-coated balloons versus conventional percutaneous transluminal angioplasty for treatment-naïve dysfunctional arteriovenous fistulas.: A 10-year single center retrospective study.

Objectives: To compare the primary patency and restenosis rates in treatment naieve dialysis arteriovenous fistulas (AVFs) after drug-coated balloons (DCB) versus plain balloon angioplasty (PTA).

Methods: This retrospective study included 157 patients who underwent AVF angioplasty for treatment-native AVF stenosis between January 2012 to 2022. The fistulas were Brachiocephalic (75%), Brachiobasilic (17%), and radiocephalic (8%).

A novel homozygous FAM92A gene (CIBAR1) variant further confirms its association with non-syndromic postaxial polydactyly type A9 (PAPA9).

Polydactyly is a very common digit anomaly, having extra digits in hands and/or toes. Non-syndromic polydactyly in both autosomal dominant and autosomal recessive forms are caused by disease-causing variants in several genes, including GLI1, GLI3, ZNF141, FAM92A, IQCE, KIAA0825, MIPOL1, STKLD1, PITX1, and DACH1. Whole exome sequencing (WES) followed by bi-directional Sanger sequencing was performed for the single affected individual (II-1) of the family to reveal the disease causative variant/gene.

Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.

Genetic microcephaly is linked to an increased risk of developmental disabilities, epilepsy, and motor impairment. The aim of this study is to describe the spectrum of identifiable genetic etiologies, clinical characteristics, and radiologic features of genetic microcephaly in patients referred to a tertiary center in Saudi Arabia. This is a retrospective chart review study of all patients with identifiable genetic microcephaly presenting to a tertiary center in Saudi Arabia.

A peculiar foreign body ingestion in 2-year-old girl complicated by esophageal perforation: case report and review of the literature.

Foreign body ingestion is a common pediatric gastrointestinal emergency, which should be suspected in all patients who present with signs of airway obstruction or upper GI bleeding, especially if it developed after the child was left unwitnessed for a while. The most common foreign bodies identified in the literature are button batteries or coins. Early identification and management of suspected foreign body ingestion is crucial as it can lead to devastating complications including bleeding, fistula formation, perforation, mediastinitis, or abscess.

Review of the spectrum of tuberous sclerosis complex: The Saudi Arabian Experience.

Objectives: To determine the prevalence of tuberous sclerosis complex (TSC) in the paediatric Saudi population and to characterise the range of clinical symptoms, neurocutaneous findings, neuroimaging results, and complications of the disease.

Methods: A total of 61 genetically confirmed TSC patients from the National Guard Health Affairs (NGHA) in Saudi Arabia were the subject of this retrospective descriptive analysis. The data were presented using descriptive measures.

Examining biomedical waste management knowledge and training level among health care professionals in Saudi Arabia.

Background: The rapid development of medical care innovations and the use of newer technologies have resulted in a significant rise in the quantity of waste produced per patient within health care facilities. Biomedical waste in particular has emerged as a pressing concern due to its inherent propensity to pose health hazards and cause environmental harm. The World Health Organization has identified a lack of knowledge and training as primary factors contributing to the failure of Biomedical waste management (BMWM).

Stress and academic engagement among Saudi undergraduate nursing students: The mediating role of emotion regulation and emotional intelligence.

Aim: To assess the mediating role of emotion regulation and emotional intelligence in the relationship between stress and academic engagement among Saudi undergraduate nursing students.

Design: This study employed a quantitative cross-sectional research design.

Methods: The study recruited 367 Saudi undergraduate nursing students at a major Saudi university.

Pediatric intranasal lobular capillary hemangioma: a case report and review of the literature.

Lobular capillary hemangioma is a benign lesion commonly affecting the head and neck region. However, in children, it is commonly seen in the buccal mucosa, gingiva, and the tongue, but its presence in the nasal cavity is less frequent. The most common symptoms of nasal hemangiomas are epistaxis and nasal obstruction.

Clinical and Molecular Characteristics of Neuronal Ceroid Lipofuscinosis in Saudi Arabia.

Background: Neuronal ceroid lipofuscinoses (NCLs) represent a heterogeneous group of inherited metabolic lysosomal disorders characterized by neurodegeneration. This study sought to describe the clinical and molecular characteristics of NCLs in Saudi Arabia and determine the most common types in that population.

Methods: A retrospective review of electronic medical records was conducted for 63 patients with NCL (55 families) from six tertiary and referral centers in Saudi Arabia between 2008 and 2022.

Clinical profile of amblyopia in a tertiary care facility without proper vision screening in Saudi Arabia.

Purpose: To evaluate the clinical profile of amblyopia among patients referred to a tertiary care facility in Saudi Arabia.

Methods: All patients between 1 and 14 years presenting to the amblyopia clinic from 2016 to 2020 were retrospectively reviewed. Amblyopia was defined as visual acuity <0.

Semaglutide as a potential therapeutic alternative for HNF1B-MODY: a case study.

Maturity-onset diabetes of the young (MODY) is a grouping of monogenic disorders. It is characterized by dominantly inherited, non-insulin-dependent diabetes. MODY is relatively rare, encompassing up to 3.