Evaluation of the quality of life in individuals with intellectual disabilities: Challenges and influencing factors.

Background: Intellectual disability (ID) poses considerable difficulty in cognitive function and adaptive behaviour, impacting millions of individuals globally. Such adversity, which can coincide with deficits in social relationships, educational, and daily living skills, also tends to influence the general quality of life (QoL) of individuals with ID. Since QoL is a complicated, multifaceted construct which has various personal, social, and environmental associated factors, it is an important area for research and policies.

Multi-strain Probiotics for Treatment of Necrotizing Enterocolitis in Preterm Rats: Histological and Immunohistochemical Evaluation.

Necrotizing enterocolitis (NEC) is a commonly encountered disease of the gastrointestinal tract in premature infants. The aim of the study was to evaluate the therapeutic role of probiotics on NEC in a preterm rat model. NEC model was induced in preterm formula-fed rats, exposed daily to hypoxia, hypothermia, and administered pathogenic bacteria.

Long-term Follow-up for Survivors of Childhood Cancer in Saudi Arabia: A Multicenter Cross-Sectional Study.

Background: With the advancement of childhood cancer therapy, long-term survivors are on the rise. Reports on childhood cancer survivors in Saudi Arabia are scarce. This study aims to assess the spectrum and burden of long-term complications among survivors of childhood cancer in Saudi Arabia.

Long-Term Survival Rates of a Sickle Cell Disease Cohort in Saudi Arabia: A 2009-2023 Observational Study.

Background: Sickle cell disease (SCD) is prevalent in Saudi Arabia. This study evaluates the long-term survival rates of a cohort of SCD patients.

Methods: This observational cohort study was conducted at King Saud University Medical City from January 2009 to September 2023.

Prevalence and Regional Distribution of Beta-Hemoglobin Variants in Saudi Arabia: Insights from the National Premarital Screening Program".

Background: Hemoglobinopathies are among the most prevalent inherited disorders globally, with carrier prevalence varying significantly across regions. In Saudi Arabia, high rates of consanguineous marriages amplify the risk of these disorders.

Aim: This study aims to assess the burden of hemoglobinopathies by evaluating the prevalence and regional distribution of beta-hemoglobin variants, including rare variants, among couples participating in the national premarital screening program.

Effects of hydroxyurea on fertility in male and female sickle cell disease patients. A systemic review and meta-analysis.

Background: Evidence supports the benefits of hydroxyurea (HU) in adults with sickle cell disease (SCD), but reservations remain due to long-term concerns of fertility. Retrospective analysis of clinical records of SCD patients (haemoglobin SS genotype) have identified gender-related differences in disease progression. This could inform risk stratification during SCD at diagnosis with the possibility to guide therapeutic decisions.

International Society for Cell and Gene Therapy Clinical Translation Committee recommendations on mesenchymal stromal cells in graft-versus-host disease: easy manufacturing is faced with standardizing and commercialization challenges.

Mesenchymal stromal cells (MSCs) have been used in multiple clinical trials for steroid-refractory moderate-severe (grade II-IV) acute graft-versus-host disease (aGVHD) across the world over the last two decades. Despite very promising results in a variety of trials, it failed to get widespread approval by regulatory agencies such as the U.S.

Response to Lisinopril in Patients with Sickle Cell Anemia and Proteinuria.

Proteinuria is a manifestation of sickle cell anemia (SCA)-related renal disease and is a risk factor of renal impairment. Angiotensin-converting enzyme (ACE) inhibitors have benefits, but their role in SCA remains undefined. This study aimed to assess the role of lisinopril, an ACE inhibitor, in reducing proteinuria in SCA patients.

Utility and Implementation of the Distress Thermometer for Cancer Patients: A Cross-Sectional Study From Saudi Arabia.

Background Cancer patients suffer from variable degrees of distress. The distress thermometer (DT) is a valuable tool for screening those patients for distress. Few studies have addressed the utility of DT in screening cancer patients in Saudi Arabia.

Regional Prevalence of Hemoglobin C Across Saudi Arabia: An Epidemiological Survey.

Introduction: HbC is a common structural hemoglobinopathy especially in West Africa. Prevalence and regional distribution of HbC in Saudi Arabia are widely undocumented. Patients with homozygous HbC disease may have mild hemolytic anemia whereas combination with hemoglobin S (HbS) leads to a clinically severe phenotype.

Comparing between HLA-matched sibling donor allogenic HSCT and non-sibling matched related donor allogenic HSCT outcome in pediatric patients; single center retrospective study.

Background: Extended family donor search other than siblings may yield an HLA matched donor in communities with high rate of consanguinity. The outcome of patients who are transplanted from non-sibling matched related donors (NS-MRD) including engraftment and graft versus host disease (GVHD) are scarce in comparison with matched sibling donor (MSD).

Methods: We retrospectively reviewed the outcome of all our pediatric hematopoietic stem cell transplantation (HSCT) patients who had non-sibling matched related donor and controlled them with matched sibling donor HSCT (based on age, indication of HSCT, conditioning regimen, GVHD prophylaxis, serotherapy, stem cell source and cytomegalovirus status).

Isotretinoin-Induced Dyslipidemia: a Single-Center Study in Saudi Arabia.

Purpose: Acne is a chronic inflammatory skin disease with a high prevalence in Saudi Arabia. Isotretinoin is used to treat severe, resistant nodulocystic acne. Side effects include joint discomfort, headache, mucosal dryness, and nose bleeds.

Human leucocyte antigen-matched related haematopoietic stem cell transplantation using low-dose cyclophosphamide, fludarabine and thymoglobulin in children with severe aplastic anaemia.

When human leucocyte antigen-matched related donors are available, haematopoietic stem cell transplantation (HSCT) in children with severe aplastic anaemia (SAA) represents the standard of care. Cyclophosphamide (Cy) 200 mg/kg and anti-thymocyte globulin (ATG) are frequently administered, but to-date, no standard conditioning regimen exists. In this study, we investigated the efficacy of a unified HSCT conditioning protocol consisting of low-dose Cy 80 mg/kg, fludarabine and ATG.

Case report: Durable response to ruxolitinib in a child with -related disorder.

Background: JAK inhibitors are useful in treating interferonopathies, presumably because they downregulate the JAK/STAT signaling. There are limited studies about the safety and effectiveness of using JAK inhibitors in children with -related disorders.

Case Presentation: We report an 8-year-old female who presented at five years of age with features suggestive of hemophagocytic lymphohistiocytosis (HLH)-like disorder.

Presentations and outcomes of familial hemophagocytic lymphohistiocytosis in the pediatric intensive care units (PICUs).

Objectives: We aimed to describe Familial Hemophagocytic Lymphohistiocytosis (F-HLH) patients' clinical features, intensive care courses, and outcomes.

Methods: Multi-center retrospective cohort study of pediatric patients diagnosed with F-HLH from 2015 to 2020 in five tertiary centers in Saudi Arabia. Patients were classified as F-HLH based on their genetic confirmation of known mutation or on their clinical criteria, which include a constellation of abnormalities, early disease onset, recurrent HLH in the absence of other causes, or a family history of HLH.

Antithrombin Deficiency Is Associated with a Novel Homozygous Detrimental Mutation in Gene in a Saudi Female.

Antithrombin (AT) deficiency is a blood disorder associated with an increased tendency to form thrombosis. Hereditary AT deficiency is frequently caused by mutations in gene. It is usually inherited as an autosomal dominant with variable penetrance.

Leaves of Are Potential Source of Bioactive Compound β-Carotene: Evidence from In Silico and Quantitative Gene Expression Analysis.

is rich in bioactive compounds such as beta-carotene, which have high nutritional values and antimicrobial applications. Several studies have confirmed that bioactive-compound-based herbal medicines extracted from the leaves, seeds, fruits and shoots of are vital to cure many diseases and infections, and for the healing of wounds. The β-carotene is a naturally occurring bioactive compound encoded by zeta-carotene desaturase (ZDS) and phytoene synthase (PSY) genes.

Current Practice of Oral Care for Hematopoietic Stem Cell Transplant Patients: A Survey of the Eastern Mediterranean Blood and Marrow Transplantation Group.

Introduction: The oral cavity is one of the most common sites impacted by hematopoietic stem cell transplantation (HSCT) with acute complications including mucositis, bleeding, salivary gland dysfunction, infection, and taste alteration. These complications may result in significant morbidity and can negatively impact outcomes such as length of stay and overall costs. As such, oral care during HSCT for prevention and management of oral toxicities is a standard component of transplant protocols at all centers.

Anticancer effect of zinc oxide nanoparticles prepared by varying entry time of ion carriers against A431 skin cancer cells .

Although, zinc oxide nanoparticles (ZRTs) as an anti-cancer agent have been the subject of numerous studies, none of the reports has investigated the impact of the reaction entry time of ion-carriers on the preparation of ZRTs. Therefore, we synthesized variants of ZRTs by extending the entry time of NaOH (that acts as a carrier of hydroxyl ions) in the reaction mixture. The anti-proliferative action, morphological changes, reactive oxygen species (ROS) production, and nuclear apoptosis of ZRTs on human A431 skin carcinoma cells were observed.

Genotype and Phenotype of Adenosine Deaminase 2 Deficiency: a Report from Saudi Arabia.

Adenosine deaminase 2 deficiency (DADA2), a rare and potentially fatal systemic autoinflammatory disease, is characterized by low or lack of ADA2 activity due to ADA2 mutations. DADA2 symptoms are variable and include vasculitis, immunodeficiency, and cytopenia. Minimal data are available from Saudi Arabia.

Outcomes of blinatumomab based therapy in children with relapsed, persistent, or refractory acute lymphoblastic leukemia: a multicenter study focusing on predictors of response and post-treatment immunoglobulin production.

The management of Refractory/Relapsed B-cell Acute Lymphoblastic Leukemia (R/R ALL) remains challenging. Incorporating blinatumomab in R/R ALL treatment has shown encouraging results. We describe the outcome and predictors of response in children receiving blinatumomab as a bridge to definitive therapy.

Antimicrobial prophylaxis and the rate of blood stream infections and Clostridioides difficile in pediatric stem cell transplantation: A single-center retrospective study.

Background: The use of prophylactic antibiotics in the pre-engraftment period to minimize the risk of bacteremia is debatable given concerns of Clostridioides difficile (C. diff), antibiotics resistance, and disruption of gut microbiota.

Methods: We retrospectively reviewed the rate and characteristics of bacteremia and C.

The effect of intensity of conditioning regimen on the outcome of HSCT in children with sickle cell disease.

Background: Allogeneic hematopoietic stem cell transplantation (HSCT) provides a cure for patients with sickle cell disease (SCD). This study describes the effect of conditioning regimen intensity on HSCT outcomes among children younger than 14 years with SCD.

Methods: Transplants from HLA-matched related donors (MRD) and unrelated donors (MUD) using either myeloablative conditioning (MAC) regimens or reduced intensity conditioning (RIC) regimens were considered.