A Novel Homozygous Loss-of-Function Variant in GPR156 Delineates Non-syndromic Hearing Loss.

Non-syndromic hearing loss (NSHL) is a genetically heterogeneous disorder accounting for almost 70% of the total congenital hearing loss. The implementation of rapid advanced sequencing methods has significantly contributed to the correct molecular diagnosis for several rare genetic disorders, including NHSL. Features of two probands with NHSL were clinically and genetically evaluated.

A Comprehensive Pan-Cancer Analysis Reveals GRB7 as a Potential Diagnostic and Prognostic Biomarker.

Background And Aim: Growth factor receptor-bound protein 7 (GRB7) belongs to a group of adaptor proteins characterized by their conserved multidomain structure. These proteins are involved in cellular signaling pathways that regulate cell growth, proliferation, and differentiation. Alterations in GRB7 expression have been linked to multiple human cancers.

FSH/LH co-stimulation in Advanced Maternal Age (AMA) and hypo-responder patients - Arabian gulf delphi consensus group.

Background: In a global effort to assess expert perspectives on the use of recombinant gonadotropins, recombinant human luteinizing hormone (r-hLH) and recombinant human follicle-stimulating hormone (r-hFSH), a consensus meeting was held in Dubai. The key aim was to address three critical questions: What are the factors that influence follicle response to gonadotropins? Which categories of patients are most likely to benefit from LH supplementation? And what are the optimal management strategies for these patients?

Methods: A panel of thirty-six experts reviewed and refined the initial statements and references proposed by the Scientific Coordinator. Consensus was defined as agreement or disagreement by more than two-thirds (66%) of the panel members for each statement.

Unusual intravesical findings: a case report on foreign body in the bladder of an adolescent female.

Bladder foreign bodies (BFB) are uncommon in the pediatric population. They typically arise from self-insertion, iatrogenic factors, or trauma. Cystoscopy is the preferred intervention.

Automation and miniaturization of high-throughput qPCR for gene expression profiling.

Quantitative PCR (qPCR) is a technique commonly employed in laboratories and core facilities. In our previous study, we had shown the possibility to automate steps in a panel-specific gene expression workflow by pairing Mosquito HV with BioMark HD. Here we aimed to automate the full workflow and explore miniaturization capabilities.

Qatar's genetic counseling landscape: Current insights and future prospects.

Genetic counseling is a dynamic and rapidly growing field. In Qatar, the significance of genetic counseling is underscored by the distinctive demographic characteristics of the population, including elevated rates of consanguinity and larger family sizes, contributing to the increased incidence of many genetic conditions. This emphasizes the crucial role of genetic counseling in addressing the specific needs of the community.

Severe Hyperkalemia in a Child with Vomiting and Diarrhea.

Case Presentation: A 13-month-old child with past medical history of congenital adrenal insufficiency presented to the emergency department with vomiting and diarrhea. Initially the child was noticed to have bradycardia with normal blood pressure. An electrocardiogram (ECG) showed tall T waves, broad QRS complex, and widened PR interval suggestive of severe hyperkalemia.

Covered Stent Correction for Sinus Venosus Atrial Septal Defects, an Emerging Alternative to Surgical Repair: Results of an International Registry.

Background: Covered stent correction for a sinus venosus atrial septal defect (SVASD) was first performed in 2009. This innovative approach was initially viewed as experimental and was reserved for highly selected patients with unusual anatomic variants. In 2016, increasing numbers of procedures began to be performed, and in several centers, it is now offered as a standard of care option alongside surgical repair.

Machine Learning-Based Prediction Model for ICU Mortality After Continuous Renal Replacement Therapy Initiation in Children.

Background: Continuous renal replacement therapy (CRRT) is the favored renal replacement therapy in critically ill patients. Predicting clinical outcomes for CRRT patients is difficult due to population heterogeneity, varying clinical practices, and limited sample sizes.

Objective: We aimed to predict survival to ICUs and hospital discharge in children and young adults receiving CRRT using machine learning (ML) techniques.

Unplanned Extubation in Extremely Preterm Neonates: Incidence, Risk Factors, and Impact on Clinical Outcomes.

Background Unplanned extubation (UE) poses a significant safety risk to mechanically ventilated, preterm, and critically ill neonates in the neonatal intensive care unit (NICU).  Objective The aim of this study was to evaluate the incidence of UE from January 2018 to December 2021, identify contributing risk factors, and compare the outcomes with a cohort of extremely preterm (EP) infants. Methods A retrospective study was conducted in the NICU at the Women's Wellness and Research Center, Hamad Medical Corporation in Qatar.

A Unique Case of Cystic Partially Differentiated Nephroblastoma Associated With Botryoid Intralobar Nephrogenic Rests.

Cystic partially differentiated nephroblastoma (CPDN) is a rare pediatric renal tumor composed of multiple cystic spaces divided by septa containing immature nephrogenic elements. The presence of expansile solid areas in the septa of such a lesion indicates an alternative diagnosis of Wilms tumor (WT). We present a unique case of CPDN associated with grossly visible polypoid proliferations, which histologically correspond to botryoid growth of intralobar nephrogenic rests.

Megameatus intact prepuce: a systematic review of surgical techniques and long-term outcomes.

Megameatus intact prepuce (MIP) presents with diverse phenotypes that complicate the management of this rare but complex hypospadias variant. Current data on optimal treatment methods and patient outcomes are sparse, unintegrated, and therefore challenging to implement clinically. A comprehensive systematic review of the existing literature on MIP was conducted according to PRISMA guidelines.

Griscelli Syndrome Type 2: Comprehensive Analysis of 149 New and Previously Described Patients with RAB27A Deficiency.

Griscelli syndrome type 2 (GS2) is a rare, life-threatening immunodysregulatory disorder characterised by impaired cytotoxic activity leading to susceptibility to haemophagocytic lymphohistiocytosis (HLH) and hypopigmentation. We completed a literature review and analysis of clinical data of 149 patients with GS2 including 8 new patients.We identified three founder mutations which show diverse phenotypic profiles (RAB27A c.

Parental attitudes and perceptions towards the recruitment of children to clinical trials: a cross-sectional survey.

Background: Clinical trials (CTs) in children are critical for understanding and treating childhood diseases. However, there trials require prior permission from parents. We evaluated parental attitudes and perceptions regarding the recruitment of their children in CTs.

Electronic medical record redesign to improve patient safety and use of non-medication orders by clinicians.

Background: Electronic medical records (EMRs) have become highly customizable. Although customization allows changes for workflow optimization, such changes can result in a less standardized system and create barriers due to individual preferences.

Aim: This was a documentation of the efforts of a greenfield academic medical centre in Qatar to improve patient safety, physician operational efficiency and revenue capture by standardizing the design of the non-medication orders and associated revenue of the EMR .

Efficacy of Intraosseous Versus Intravenous Drug Administration in Out-of-Hospital Cardiac Arrest: A Systematic Review and Meta-Analysis.

This meta-analysis compared the efficacy of intraosseous (IO) versus intravenous (IV) drug administration in out-of-hospital cardiac arrest (OHCA). We systematically searched Embase, Web of Science, PubMed, and Cochrane Library through September 20, 2024, for relevant studies. The primary outcome was favorable neurological outcome, with secondary outcomes, including survival to hospital discharge and return of spontaneous circulation (ROSC).

Trafficking in the child and adolescent: Application of SAFETY and CARE for a global crisis of exploitation.

Human trafficking in the child and adolescent is a global public health crisis that can be divided into sex trafficking, labor trafficking and organ trafficking. This discussion considers basic terminology in this area, sociodemographic information on these victims, negative effects or repercussions from such egregious actions forced on the victims, issues of screening for healthcare providers based on specific risk factors/indicators, and information regarding screening tools as well as management principles for healthcare professionals. These trafficked persons are seen in varied practice settings such as primary care offices, emergency departments, street medicine operations, and others.

Effect of educational interventions addressing blood groups and donation aspects on the knowledge and attitude of allied health sciences students.

Objective: To determine the effect of educational interventions on knowledge and approach of Allied Health Sciences Students regarding blood groups and blood donation.

Methods: It was a cross-sectional study conducted at the department of Hematology and Transfusion Medicine, University of Child Health Sciences, The Children's Hospital, Lahore from October 2022-January 2023. A self-designed questionnaire was used to assess the baseline knowledge of students followed by educational interventions in the form of small group discussions, video lectures and practical demonstrations.

Comparative Effectiveness of Bariatric Metabolic Surgery Versus Glucagon-Like Peptide-1 Receptor Agonists on Cardiovascular Outcomes and Mortality: A Meta-Analysis.

Cardiovascular disease (CVD) remains a leading cause of morbidity and mortality worldwide, particularly in individuals with obesity and type 2 diabetes mellitus (T2DM). This meta-analysis aimed to compare the effectiveness of bariatric metabolic surgery (BMS) and glucagon-like peptide-1 receptor agonists (GLP-1RAs) on cardiovascular outcomes and mortality in patients with obesity. A comprehensive literature search was conducted in Medline, Embase, and Cochrane CENTRAL from inception to September 15, 2024.