Case Report: A homozygous selenocysteine insertion sequence-binding protein 2 () gene mutation in a pediatric patient.

Selenocysteine insertion sequence-binding protein 2 () is crucial for the biosynthesis of selenoproteins, including iodothyronine deiodinases, which play a vital role in thyroid hormone metabolism. Mutations in can disrupt thyroid function, leading to various clinical manifestations across multiple systems. We present the case of a 3-year-old Saudi female who was referred for genetic testing due to poor growth, developmental abnormalities, and notable facial dysmorphism.

Case Report: mutations in Saudi patients with 46,XY differences of sex development.

Differences of sex development (DSD) are a group of congenital conditions involving atypical chromosomal, gonadal, or anatomical sex development. , a gene involved in ribosome biogenesis, located on chromosome 12, at the 12q24.31 region, has recently emerged as a contributor to 46,XY DSD, particularly gonadal dysgenesis and testicular regression syndrome (TRS).

Clinical profiles and mortality risk factors in pediatric pulmonary hemorrhage: a singlecenter study in Saudi Arabia.

Background: Pulmonary hemorrhage (PH) is a rare, life-threatening event characterized by bleeding into the airways and lung parenchyma.

Objectives: To explore the clinical characteristics of PH patients and investigate mortality-related risk factors, providing a holistic understanding of patient outcomes in this population.

Design: A retrospective cohort study.

Cytomegalovirus infection in pediatric haploidentical stem cell transplantation.

Background: Human cytomegalovirus (CMV) is a major source of morbidity and mortality in pediatric hematopoietic stem cell transplantation (HSCT). CMV replication is mainly controlled by T-cell-mediated immunity. Despite treatment, CMV reactivation continues to have a significant adverse impact on post-transplant outcomes.

Prevalence and risk factors of thrombosis in patients with congenital hyperinsulinism: a retrospective analysis.

Background: Congenital hyperinsulinism (CHI) is a rare but significant cause of persistent neonatal hypoglycemia. While Central Venous Catheters (CVCs) are a known major risk factor for thrombosis in neonates, the evidence linking CHI, catheter use, and thrombotic risk remains limited. This study investigates the prevalence of thrombosis in CHI patients and explores potential contributing factors, such as CVC insertion and infection.

Incidence of and Risk Factors for Do-Not-Resuscitate Orders in Critically Ill Children: Insights From a Tertiary Care Center in Saudi Arabia.

To investigate the incidence and determinants of do-not-resuscitate (DNR) orders, as well as mortality-associated risk factors, in the pediatric intensive care unit (PICU) of a tertiary care center in Saudi Arabia. Retrospective cohort study. The PICU at the King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.

Hyperinsulinism-hyperammonemia syndrome associated with GLUD1 gene mutation: a case series.

Background: Congenital hyperinsulinism is a rare disorder characterized by inappropriate insulin secretion, leading to persistent hypoglycemia. One genetic subtype, hyperinsulinism-hyperammonemia syndrome, results from activating mutations in the GLUD1 gene. This study aimed to describe the clinical spectrum, genetic variants, and outcomes of patients with GLUD1-related hyperinsulinism-hyperammonemia syndrome treated at a tertiary care center in Saudi Arabia.

Prepubertal to adolescent lupus: Age-related variations in clinical, laboratory, and outcome profiles.

BackgroundChildhood-onset systemic lupus erythematosus (cSLE) is a heterogeneous autoimmune disease with age-related variations. Older children often exhibit higher disease activity, whereas early-onset cSLE is associated with worse outcomes. However, most existing studies are retrospective and based on single-nation cohorts, yiedling inconsistent findings.

Homozygous familial hypercholesterolemia in a high-consanguinity population: Insights from a Saudi cohort.

Background: Homozygous familial hypercholesterolemia (HoFH) is a genetic disorder characterized by markedly elevated low-density lipoprotein cholesterol (LDL-C) levels and a significantly increased risk of early-onset cardiovascular disease (CVD) and premature death. This study investigates the clinical features, treatment outcomes, genetic findings, and reverse cascade screening results for HoFH patients.

Methods: A total of 88 HoFH patients from 65 families following at a large referral center between 2010 and 2023 were included.

The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia.

Introduction: The Bacillus Calmette-Guérin (BCG) vaccine is widely used to prevent tuberculosis but is associated with significant complications in patients with severe combined immunodeficiency (SCID). Considering the high incidence of SCID in Saudi Arabia, the Ministry of Health revised its national vaccination schedule in 2019, postponing BCG administration from birth to 6 months of age, aiming to enable time for the diagnosis of primary immunodeficiency diseases before vaccination. This study evaluated the consequences of this policy change on the incidence of BCG-related complications in SCID patients.

Intensity of Care at the End-of-Life in Pediatrics: A Single Center Analysis With Implications for Advanced Care Planning in Saudi Arabia.

Advances in medicine have altered the progression of several pediatric disorders. However, this progress also comes with medical, economic, and ethical challenges, which can negatively affect children's quality of life. This study examines the quality of care of children with malignant and non-malignant conditions at the end of life.

Growth Parameters in Children with Non-syndromic Cleft Lip and Palate versus Healthy Controls: A Cohort Study from Riyadh, Saudi Arabia.

Background: Cleft lip and palate (CLP) can have an impact on the physical development of children; however, data from such studies is currently limited.

Objectives: To compare growth parameters between children with non-syndromic CLP and healthy controls in Saudi Arabia.

Materials And Methods: This case-control retrospective cohort study included Saudi children with CLP and age- and gender-matched healthy children (1:1) who attended a tertiary care center in Riyadh, Saudi Arabia.

Long-term outcomes of congenital adrenal hyperplasia due to 21-hydroxylase deficiency: a retrospective study from a tertiary care center in Saudi Arabia.

Introduction: Data on congenital adrenal hyperplasia (CAH) disorders in the Saudi population are limited. This retrospective study assessed the clinical characteristics ofadolescents and adults with 21-hydroxylase CAH alongside the long-term outcomes of chronic glucocorticoid replacement therapy.

Methods: The study was conducted at the King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.

Pycnodysostosis: a case series of eight Saudi patients with cathepsin K gene mutation and a literature review.

Pycnodysostosis, a rare osteopetrosis subtype, is mainly caused by homozygous or compound heterozygous biallelic pathogenic mutation of the cathepsin K () gene. The cohort included eight patients (four males and four females) with a mean current age of 13 years (SD ± 3.6) and a mean age at diagnosis of 5 years (SD ± 2).

Quality of life of 26 family members from four generations with X-linked hypophosphatemia: a cross-sectional study.

Introduction: X-linked hypophosphatemia (XLH) is a lifelong, progressive genetic condition affecting patients' physical health and quality of life.

Methods: This cross-sectional study aimed to understand the burden of XLH on four generations of family members with XLH. 26 family members with XLH from Saudi Arabia were assessed via a home visit and clinical assessment in hospital.

Effectiveness and safety of bisphosphonates in inflammatory bone disorders: a systematic review.

Objectives: We aimed to evaluate the available evidence on the use of bisphosphonates, with a focus on pamidronate, in the treatment of inflammatory bone disorders (IBDs).

Methods: A comprehensive literature search was conducted using PubMed, Google Scholar, Scopus, the Cochrane Library, and the Directory of Open Access Journals (DOAJ) for articles published between January 2000 and July 2024. Following PRISMA 2020 guidelines, this review focused on studies of childhood IBDs treated with bisphosphonates, assessing clinical and radiological remission and safety based on predefined criteria.

Incidence, outcomes, and mortality risk factors of acute kidney injury in critically ill children: a tertiary care center study in Saudi Arabia.

Background: Acute kidney injury (AKI) is a critical concern in pediatric intensive care units (PICUs) due to its high mortality rate.

Objectives: Investigate AKI incidence, outcomes, and mortality-related risk factors among critically ill children.

Design: Retrospective cohort.

Post hematopoietic stem cell transplant (HSCT) outcomes in pediatric intensive care unit, experience from a referral center for cellular therapy and hematopoietic stem cell transplantation.

Background: Patients who underwent hematopoietic stem cell transplantation (HSCT) are considered at high risk for pediatric intensive care unit (PICU) admission. Therefore, this study aimed to assess outcomes and mortality-related risk factors among pediatric HSCT recipients admitted to the PICU.

Methods: This retrospective cohort study was conducted at a Saudi Arabian tertiary care center and involved pediatric patients (aged 4 weeks to 14 years) who underwent HSCTs between January 2015 and December 2019 and were admitted to the PICU.

Effectiveness of traditional non-carbapenem β-lactams vs. novel β-lactams for the treatment of carbapenem-resistant Pseudomonas aeruginosa: a retrospective cohort study.

Background: The World Health Organization (WHO) has identified carbapenem-resistant Pseudomonas aeruginosa (CRPA) as one of the three critical priority pathogens. There is scarce literature evaluating the treatment outcomes in patients with CRPA infections treated with traditional non-carbapenem β-lactam (NCBL) agents. Thus, this study aims to assess the effectiveness of traditional NCBL compared to novel β-lactam agents (NVL) for treating non-carbapenem β-lactam -susceptible CRPA.

Discharge against medical advice in pediatrics: a 10-year retrospective analysis in a tertiary care center.

Background: There is still limited data on Discharge Against Medical Advice (DAMA) in the pediatric population. Most research comes from low-and middle-income countries, where the financial burden associated with medical care is often an important reason to leave a healthcare facility prematurely. Discharge against medical advice in the children's population is considered a significant issue that may lead to an increased risk of morbidity and mortality.

Burnout among Postgraduate Healthcare Trainees at a Tertiary Healthcare Center in Saudi Arabia.

Objectives: The aim of this study was to investigate the level of burnout among postgraduate healthcare trainees at a tertiary care center in Riyadh, Saudi Arabia, and assess the need to establish a well-being program.

Methods: This cross-sectional study was conducted between December 2021 and January 2022 and used two validated questionnaires: the Copenhagen Burnout Inventory (CBI) for assessing burnout among postgraduate healthcare trainees, and a questionnaire for assessing program directors' opinion on the need for a well-being program.

Results: A total of 386 trainees and 85 program directors completed the questionnaire.

Epidemiology, clinical profiles, and antimicrobial susceptibility of infections: Insights from a tertiary care hospital in Saudi Arabia.

Objectives: To investigate the incidence rate, clinical characteristics across different age groups, antimicrobial susceptibility, and outcomes of () infections.

Methods: A retrospective analysis was carried out to include 66 cases with confirmed cultures from sterile samples between January 2014 and June 2022 at King Faisal Specialist Hospital and Research Centre in Riyadh, Saudi Arabia.

Results: A total of 66 cases were identified, with an incidence rate of 0.

Clinical characteristics and prognostic value of autoantibody profile in children with monogenic lupus.

Objective: To report the frequency of selected autoantibodies and their associations with clinical features in Arab children with monogenic lupus.

Methods: This study was retrospective single-center study of genetically confirmed monogenic lupus cases at childhood lupus clinic at King Faisal Specialist Hospital and Research Center, from June 1997 to July 2022. We excluded familial lupus without genetic testing and patients with insufficient data.