Serial Post-Operative Radiographs in Surgically Managed Pediatric Supracondylar Humeral Fractures: Are They Always Required?

Objective:  Supracondylar humeral fractures are among the most common pediatric fractures that require surgical intervention when displaced. Recent attention has been directed towards the utilization of serial radiographs in the post-operative period and their effect on decision-making. This study aimed to determine the usefulness of postoperative radiographs early post-operatively, with the goal of determining the optimal frequency for these radiographs.

Parental Beliefs and Attitudes Toward the Use of Baby Walkers in the Eastern Region of Saudi Arabia.

Background Baby walkers (BWs) are popular among parents worldwide, despite safety concerns and developmental impact concerns, as they are influenced by cultural beliefs, social myths, and personal interests. This study aims to assess parental beliefs and attitudes toward the use of BWs in the Eastern region of Saudi Arabia. Materials and methods A descriptive cross-sectional study was conducted among 400 mothers in the Eastern region of Saudi Arabia.

Time of surgery and surgeon level in supracondylar humerus fractures in pediatric patients: A retrospective study.

Background: Supracondylar humerus fractures account for more than 60% of all elbow fractures and about 1/5 of all pediatric fractures. Unfortunately, these fractures can be associated with risk of complications including neurovascular injuries, malunions and limb deformities. Controversy exists regarding the effect of time of surgical intervention and/or level of surgeon performing the surgery on outcome of these fractures.

Assessing Acetabular Index Angle in Infants: A Deep Learning-Based Novel Approach.

Developmental dysplasia of the hip (DDH) is a disorder characterized by abnormal hip development that frequently manifests in infancy and early childhood. Preventing DDH from occurring relies on a timely and accurate diagnosis, which requires careful assessment by medical specialists during early X-ray scans. However, this process can be challenging for medical personnel to achieve without proper training.

BRAT1-related disorders: phenotypic spectrum and phenotype-genotype correlations from 97 patients.

BRAT1 biallelic variants are associated with rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL), and neurodevelopmental disorder associating cerebellar atrophy with or without seizures syndrome (NEDCAS). To date, forty individuals have been reported in the literature. We collected clinical and molecular data from 57 additional cases allowing us to study a large cohort of 97 individuals and draw phenotype-genotype correlations.

Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing.

Background: Hydrocephalus is a highly heterogeneous multifactorial disease that arises from genetic and environmental factors. Familial genetic studies of hydrocephalus have elucidated four robustly associated hydrocephalus associated loci. This study aims to identify potential genetic causation in cases of hydrocephalus, with or without spina bifida and Dandy Walker Syndrome (DWS), using family-based rare variant association analysis of whole exome sequencing.

A review of polydactyly and its inheritance: Connecting the dots.

Objective: This study collects what is known about the inheritance underpinnings of syndromic and non-syndromic polydactylies and highlights dactyly presentations with unknown genetic roots. This review summarizes the current information and genetics-enhanced understanding of polydactyly.

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Bi-allelic loss-of-function variants in PPFIBP1 cause a neurodevelopmental disorder with microcephaly, epilepsy, and periventricular calcifications.

PPFIBP1 encodes for the liprin-β1 protein, which has been shown to play a role in neuronal outgrowth and synapse formation in Drosophila melanogaster. By exome and genome sequencing, we detected nine ultra-rare homozygous loss-of-function variants in 16 individuals from 12 unrelated families. The individuals presented with moderate to profound developmental delay, often refractory early-onset epilepsy, and progressive microcephaly.

Blood utilization and quality indicators at a university hospital in the Eastern Province of Saudi Arabia.

Background: Blood transfusion is a common, essential procedure when treating many different medical and surgical conditions. Efficient utilization of blood bank facilities by frequent auditing is crucial; however, few studies have examined blood utilization in Saudi Arabia. We aimed to review the blood ordering patterns and transfusion practices, and blood bank audit effectiveness at a single center in Saudi Arabia and compare our results with those of a similar study performed in the same center 20 years ago.

Clinical profile, risk factors and outcomes of ric COVID-19: a retrospective cohort multicentre study in Saudi Arabia.

Objective: To describe the risk factors, clinical profile and outcomes of COVID-19 in the paediatric population.

Design: Multicentre, retrospective observational study.

Setting: Four tertiary hospitals in Saudi Arabia.

Novel Compound Heterozygous Variants of the Gene Warrant Identification of Pancreatic Histology in Infant with Diazoxide-unresponsive Congenital Hyperinsulinism.

Congenital hyperinsulinism (CHI) is characterized by dysregulated insulin secretion, resulting in severe hypoglycemia. Mutations in the and genes encoding KATP channels in beta cells of the pancreas are common among patients with CHI. Autosomal recessive CHI with diffuse involvement is the most common type of CHI among Saudi patients.

Genetic Variants of RPL5 and RPL9 Genes among Saudi Patients Diagnosed with Thrombosis.

Background: Thrombosis directly affects the quality of life with increased mortality. The RPL5 (L5) gene on intron 6 on chromosome 1p22, rs6604026 is associated with multiple sclerosis risk, whereas RPL9 (L9) on 8 exons on chromosome 4p14 has been documented so far as being an essential involvement in the proliferation of protein synthesized cells mostly by gene products.

Objective: The aim of this work was to assess genetic variants of RPL5 and RPL9 and thrombosis to characterize their role in the diagnosis of thrombosis among the Saudi population.

Identification of gene variants and the risk of hepatic vein thrombosis in Saudi patients.

Objectives: To identify ribosome protein L5 gene variants and the risk of hepatic vein thrombosis in Saudi patients.

Methods: A case-control study was conducted during the period of May 2018 to September 2019. Sixty-five patient cases of hepatic vein thrombosis (HVT) were chosen, and 50 healthy individuals of the same ages and both gender were set as a control group.

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies.

Purpose: We aimed to define a novel autosomal recessive neurodevelopmental disorder, characterize its clinical features, and identify the underlying genetic cause for this condition.

Methods: We performed a detailed clinical characterization of 19 individuals from nine unrelated, consanguineous families with a neurodevelopmental disorder. We used genome/exome sequencing approaches, linkage and cosegregation analyses to identify disease-causing variants, and we performed three-dimensional molecular in silico analysis to predict causality of variants where applicable.

Use of a Mortality Prediction Model in Children on Mechanical Ventilation: A 5-Year Experience in a Tertiary University Hospital.

Purpose: Currently, several scoring systems for predicting mortality in severely ill children who require treatment in a pediatric intensive care unit (PICU) have been established. However, despite providing high-quality care, children might develop complications that can cause rapid deterioration in health status and can lead to death. Hence, this study aimed to establish a simple early predictive mortality (SEPM) model with high specificity in identifying severely ill children who would possibly benefit from extensive mechanical ventilation during PICU admission.

The morbid genome of ciliopathies: an update.

Purpose: Ciliopathies are highly heterogeneous clinical disorders of the primary cilium. We aim to characterize a large cohort of ciliopathies phenotypically and molecularly.

Methods: Detailed phenotypic and genomic analysis of patients with ciliopathies, and functional characterization of novel candidate genes.

Malignant Infantile Osteopetrosis: A Case Report.

Osteopetrosis is a rare genetic disease of bone resorption. It includes a variety of hereditary skeletal disorders that have the main radiographic feature of increased bone density and thickness due to differentiation or functional defects in osteoclast. The clinical presentation varies widely based on the type of osteopetrosis and ranges in severity from asymptomatic to a fatal course.

Musculoskeletal symptoms among radiologists in Saudi Arabia: a multi-center cross-sectional study.

Background: Musculoskeletal symptoms account for the majority of work-related illnesses resulting in a significant economic burden on society. Computer users are subject to unique repetitive strains that predispose them to musculoskeletal symptoms. In the digitalized field of radiology, radiologists spend long hours interpreting medical images on computers.

Lessons Learned from Large-Scale, First-Tier Clinical Exome Sequencing in a Highly Consanguineous Population.

We report the results of clinical exome sequencing (CES) on >2,200 previously unpublished Saudi families as a first-tier test. The predominance of autosomal-recessive causes allowed us to make several key observations. We highlight 155 genes that we propose to be recessive, disease-related candidates.

Aortic calcification in Gaucher disease: a case report.

Gaucher disease is the most common sphingolipid storage disease and is present in all ethnic groups. Its symptoms span all systems including the cardiovascular system. The health care provider should be vigilant regarding this potentially fatal complication.

Autozygome and high throughput confirmation of disease genes candidacy.

Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases.

Topical vitamin D3: A randomized controlled trial (RCT).

Objective: The intent of this study was to test the effect of Top-D, a topical Vitamin D preparation, in delivering vitamin D.

Methods: Five hundred and fifty healthy patients, with vitamin D insufficiency and deficiency were recruited after written informed consent. Demographic data was recorded, adequate history and clinical examination was done to rule out any metabolic diseases.