Clinical, biochemical and molecular characteristics of classic homocystinuria in Saudi Arabia and the impact of newborn screening on prevention of the complications: A tertiary center experience.

Background: Classic homocystinuria (HCU) is a rare inborn metabolic disease that is generally asymptomatic at birth. If untreated, it can cause a wide range of complications including intellectual disability, lens dislocation, and thromboembolism. This study aimed to describe the natural history and the molecular findings of patients with HCU, and to assess the importance of early diagnosis.

A bibliometric analysis of inflammatory bowel disease research in the Arab world.

Background: The prevalence of inflammatory bowel disease (IBD) continues to increase worldwide, including in the Arab world. This study investigates IBD research output in Arab countries from 2009 to 2023, alongside prevalence and incidence trends.

Methods: We utilized bibliometric analysis with data from Clarivate Analytics, the Institute for Health Metrics and Evaluation, and the World Bank.

Antibiotic Treatment for 7 versus 14 Days in Patients with Bloodstream Infections.

Background: Bloodstream infections are associated with substantial morbidity and mortality. Early, appropriate antibiotic therapy is important, but the duration of treatment is uncertain.

Methods: In a multicenter, noninferiority trial, we randomly assigned hospitalized patients (including patients in the intensive care unit [ICU]) who had bloodstream infection to receive antibiotic treatment for 7 days or 14 days.

Copy Number Variants in 30 Saudi Pediatric Patients with Neurodevelopmental Disorders: From Unknown Significance to Diagnosis.

Background: Structural variants (SVs), such as copy number variants (CNVs), insertions, deletions, inversions, and translocations, contribute significantly to genetic diversity and disease etiology. CNVs, which involve the duplication or deletion of DNA segments, are particularly impactful on genes crucial for biological functions and disease processes.

Objective: To reassess unclassified SVs that may be underlying unresolved neurodevelopmental disorders among Saudi patients.

Synthesis and Evaluation of 3,5-Disubstituted-1,2,4-Oxadiazolyl Benzamides as Potential Anti-Breast Cancer Agents: In Vitro and In Silico Studies.

Herein, the synthesis, anti-cancer evaluation, and in silico studies of a series of 1,2,4-oxadiazole compounds (8-15) are disclosed. The synthesized molecules were tested in vitro for anti-cancer activity against MCF-7, MDA-MB-231, HeLa, Ishikawa cell lines and human embryonic kidney (HEK-293) cell lines. Among the synthesized compounds, 9 and 15 exhibited significant cytotoxicity, with IC values of 7.

Association Between Carbapenem-Resistant Enterobacterales (CRE) Colonization Status at Time of Hospital Admission and the Subsequent Development of CRE Infection and Mortality in High-Risk Patients.

Purpose: The study aimed to determine the impact of Carbapenem-resistant Enterobacterales (CRE) colonization status on development of CRE infection and 30-day mortality outcomes in high-risk patients.

Patients And Methods: This retrospective cohort study was conducted at King Faisal Specialist Hospital and Research Center in Jeddah, Saudi Arabia from October 2022 to July 2023. It included all patients aged 14 years and older admitted to the intensive care unit (ICU), the renal transplant unit and the oncology units who were screened for CRE colonization upon hospital admission.

Analysis of Alzheimer's Disease-Related Mortality Rates Among the Elderly Populations Across the United States: An Analysis of Demographic and Regional Disparities from 1999 to 2020.

Introduction: Alzheimer's Disease (AD) is the leading cause of dementia and a significant public health concern, characterized by high incidence, mortality, and economic burden. This study analyzes the mortality patterns and demographic disparities in Alzheimer's disease-related deaths among the elderly population in the United States from 1999 through 2020.

Methods: Alzheimer's disease mortality data for individuals 65 and older were obtained from the CDC WONDER database, utilizing ICD-10 codes G30.

The relationship between positive end-expiratory pressure (PEEP) and intra-abdominal pressure (IAP) in mechanically ventilated patients: A prospective observational study.

Background: Positive end-expiratory pressure is a crucial mechanical breathing parameter. Intra-abdominal hypertension is well defined as a sustained increase in the intra-abdominal pressure ≥12 mmHg. There are still controversies about mechanical ventilation's effect and use of positive end-expiratory pressure on intra-abdominal pressure.

Recent progress and applications of single-cell sequencing technology in breast cancer.

Single-cell RNA sequencing (scRNA-seq) technology enables the precise analysis of individual cell transcripts with high sensitivity and throughput. When integrated with multiomics technologies, scRNA-seq significantly enhances the understanding of cellular diversity, particularly within the tumor microenvironment. Similarly, single-cell DNA sequencing has emerged as a powerful tool in cancer research, offering unparalleled insights into the genetic heterogeneity and evolution of tumors.

Hajj vaccination strategies: Preparedness for risk mitigation.

Millions of pilgrims travel annually to Makkah and Madinah, Saudi Arabia, for the Hajj, posing unique challenges for public health management and disease control. The large influx of pilgrims from diverse backgrounds traveling to a confined geographic area, coupled with the close proximity and interactions among them, create significant pressure on the healthcare system and heighten the potential for the spread of communicable diseases. This review examines current trends in communicable diseases and their impact, drawing insights from expert perspectives on the required (i.

Assessment of the effectiveness of hospital external disaster functional drills on health care receivers' performance, using standardized patients and mass cards simulation: a pilot study from Saudi Arabia.

Background: Given the increasing frequency of disasters globally, it is critical that healthcare systems are prepared for these mass casualty events. The Saudi health system's preparedness for mass casualty incidents needs to be more robust, potentially due to limited disaster drills and inadequate standardized patient (SP) simulation training. This study aims to (i) assess the performance of front-line hospital staff in Saudi Arabia through a functional drill and (ii) evaluate the drill's effectiveness using SP and MAC-SIM cards, providing detailed insights into its design and execution.

Discontinuation of Tyrosine Kinase Inhibitor Therapy and Treatment Free Remission (TFR) in Chronic Myeloid Leukemia: Successful Achievement of TFR in More Than Two-Third of Patients in a Real-World Practice.

Background: Discontinuation of TKI therapy and treatment-free remission (TFR) have become new goals for chronic-phase chronic myeloid leukemia (CP-CML). The aim of this study was to estimate the TFR post discontinuation of TKI therapy at 3 tertiary-care centers.

Patients And Methods: CP-CML patients aged ≥16 years who had an attempt to discontinue TKI therapy till June 2022, were eligible.

Traumatic CSF rhinorrhea associated with COVID-19 testing: a case series and systematic review.

Background: This report analyzes traumatic anterior skull base CSF leaks following nasopharyngeal swab testing for detection of SARS-CoV-2 in the largest case series to date, combined with a systematic literature review.

Methods: Retrospective multi-institutional case-series of traumatic anterior skull base CSF leak with clear antecedent history of COVID-19 swab was completed. A comprehensive search of databases was performed for the systematic literature review.

A New Ultrasound-Guided, One-Point, Single Interfascial Plane Botulinum Toxin A Injection Technique for the Repair of Ventral Abdominal Wall Hernias Before Surgery: A Case Report.

Patients presenting with large ventral abdominal wall hernias require pretreatment with injection botulinum toxin A before surgery. Currently, multipoint and multilayered botulinum injection techniques are practiced. We are describing a new ultrasound-guided, 1-point, single interfascial plane botulinum toxin A injection technique for the closure of big hernial defects.

Oncology Early-Phase Clinical Trials in the Middle East and North Africa: A Review of the Current Status, Challenges, Opportunities, and Future Directions.

Clinical trials, the empirical discipline of medical experimentation conducted on human subjects, have engendered a paradigm shift in medical research. The need for new clinical studies is paramount in the Middle East and North Africa (MENA) region, with its rising cancer incidence and demand for efficient oncology treatments. This paper comprehensively reviews the challenges, opportunities, and future directions of phase I oncology clinical trials in the MENA region.