Mutations in the ciliary transport gene IFT140 cause syndromic congenital retinal dystrophy.

Early-onset, severe retinal dystrophy can be isolated or syndromic, presenting as part of an underlying systemic disease. Mainzer-Saldino syndrome, a rare systemic ciliopathy characterized by skeletal and renal disease, is caused by recessive mutations in the intraflagellar transport 140 chlamydomonas homologue (IFT140) gene. We present a series of 13 cases of early-onset retinal dysfunction with confirmed IFT140 mutations from 8 unrelated Saudi families belonging to 3 well-known tribes.

Preferences for albumin use in adult intensive care unit patients with shock: An international survey.

Introduction: Use of albumin is suggested for some patients with shock, but preferences for its use may vary among intensive care unit (ICU) physicians.

Methods: We conducted an international online survey of ICU physicians with 20 questions about their use of albumin and their opinion towards a randomised trial among adults with shock comparing the use versus no use of albumin.

Results: A total of 1248 respondents participated, with a mean response rate of 37%, ranging from 18% to 75% across 21 countries.

Patients with influenza admitted to a tertiary-care hospital in Riyadh between 2018 and 2022: characteristics, outcomes and factors associated with ICU admission and mortality.

Background: Influenza is a common cause of hospital admissions globally with regional variations in epidemiology and clinical profile. We evaluated the characteristics and outcomes of patients with influenza admitted to a tertiary-care center in Riyadh, Saudi Arabia.

Methods: This was a retrospective cohort of adult patients admitted with polymerase chain reaction-confirmed influenza to King Abdulaziz Medical City-Riyadh between January 1, 2018, and May 31, 2022.

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.

Tutor assessment of medical students in problem-based learning sessions.

Background: Problem-based learning (PBL) is a method of learning that has been adopted in different curricula of different disciplines for more than 30 years; the assessment of the students in PBL sessions in medical schools is fundamental to ensure students' attainment of the expected outcomes of conducting PBL sessions and in providing the students with the feedback that help them to develop and encourage their learning. This study investigated the inter-rater reliability of the tutor assessment in assessing medical students' performance in their PBL tutorial sessions.

Materials And Methods: This study was conducted in the College of Medicine (COM), in the academic year 2021-2022.

Predictors of Sepsis and Sepsis-related Mortality in Critically Ill Burn Patients: A Single Tertiary Care Center Experience.

Background: Clinical diagnosis of sepsis is challenging, emphasizing the importance of regular bacterial surveillance, and tailored antimicrobial therapy. This study aims to elucidate the predictors of sepsis in critically ill burn patients.

Methods: A retrospective analysis was conducted on patients admitted to the burn intensive care unit between 2016 and 2022.

Selective intra-arterial hypothermia combined with endovascular thrombectomy for large vessel occlusion: A systematic review and meta-analysis.

Background: Systemic therapeutic hypothermia may improve outcomes after acute ischemic stroke but increases complications. Selective intra-arterial hypothermia at the ischemic site during endovascular thrombectomy (EVT) theoretically offers benefits with fewer risks. However, there is little clinical evidence to support this approach.

Fetal exposure to isotretinoin in Saudi Arabia: a multicenter real-world data analysis from 2015 to 2020.

Background: Despite its high efficacy in treating severe acne, isotretinoin is associated with serious side effects, including teratogenicity. However, the extent of isotretinoin exposure during pregnancy in Saudi Arabia remains unknown.

Objectives: This study aims to quantify the extent of fetal exposure to isotretinoin in Saudi Arabia and to evaluate adherence to risk minimization measures approved by the Saudi Food and Drug Authority.

Experts' Opinion in Fabry Disease Management and the Unmet Medical Need: The Saudi Perspective.

Fabry disease (FD) is an X-linked lysosomal storage disorder caused by α-galactosidase A gene mutations. Its global incidence ranges from 1:40,000 to 1:170,000. This expert review evaluates the available guidelines, the status of diagnosed but untreated patients with FD, and the challenges in diagnosing and managing FD in the Kingdom of Saudi Arabia (KSA).

Sperm extraction in nonmosaic Klinefelter syndrome patients: A case series and literature review of sperm extraction in Klinefelter syndrome patients.

Objectives: Klinefelter syndrome (KF) is a group of chromosomal disorders with at least one extra X chromosome in male individuals that leads to infertility and diminished hair growth in affected males. In this study, we present a case series of 16 nonmosaic KF and an extensive literature review.

Patients And Methods: This is a retrospective study including 16 nonmosaic Klinefelter Syndrome patients that underwent micro-testicular sperm extraction (m-TESE) at our center between January 2016 and December 2022.

Exploring the incidence and characteristics of urolithiasis in the central region of Saudi Arabia: Insights from a prominent medical center.

Introduction: Urolithiasis is a common and recurrent condition with a rising global incidence. Stones typically develop in the upper urinary tract, primarily the kidneys. Various factors such as age, gender, diet, fluid intake, climate, occupation, genetics, and metabolic diseases influence stone formation.

The Association Between Sleep and Quality of Life Among Visitors of Lifestyle Clinics at the Ministry of National Guard-Health Affairs, Western Region, Saudi Arabia.

Background: Sleep quality significantly impacts health-related quality of life (QoL). However, the link between sleep quality and QoL needs further exploration, especially in the context of Saudi Arabia.

Objective: To assess the effect of sleep quality on QoL among visitors of lifestyle clinics at the National Guard primary healthcare centers in the Western region of Saudi Arabia in 2023.

Examining how customers perceive community pharmacies based on Google maps reviews: Multivariable and sentiment analysis.

Objective: This study aims to understand customer perceptions of community pharmacies utilizing publicly available data from Google Maps platform.

Materials And Methods: Python was used to scrape data with Google Maps APIs. As a result, 17,237 reviews were collected from 512 pharmacies distributed over Riyadh city, Saudi Arabia.

The genetic cause of neurodevelopmental disorders in 30 consanguineous families.

Objective: This study aims to clinically and genetically assess 30 unrelated consanguineous Pakistani families from various ethnic backgrounds, all exhibiting features of neurodevelopmental disorders (NDDs).

Methods: We conducted clinical, genetic, biochemical, and molecular analyses on 30 consanguineous families with NDDs enrolled from various regions of Pakistan. The likely molecular causes of primary microcephaly and NDDs were identified.

A Systematic Review of Questionnaires Assessing Patient Satisfaction in Plastic Surgery: Tools, Topics, and Surgical Types.

Background: Patient satisfaction is crucial for evaluating healthcare services, including plastic surgery. This systematic review aims to analyze questionnaires assessing patient satisfaction in plastic surgery, identifying their strengths and weaknesses to improve outcomes and enhance the quality of care.

Methods: A comprehensive literature search was conducted using electronic databases.

Lower Limb Doppler Ultrasound Prior to Pneumatic Compression for the Prevention of Pulmonary Embolism in Gynecological Cancer Patients: A Retrospective Cohort Study.

Introduction: Venous thromboembolism, which includes deep-vein thrombosis and pulmonary embolism, is the third most common cardiovascular disease after myocardial infarction and stroke. This study aimed to determine the effect of Doppler ultrasound on the prophylaxis and prevention of postoperative venous thromboembolism in gynecological oncology.

Method: This is a retrospective cohort study of procedures performed at King Abdulaziz Medical City in Jeddah, Saudi Arabia, between 2016 and 2021.

Interventions to promote mental health in the Occupied Palestinian Territories and Palestinian refugees: A scoping review.

Background: The long history of the Palestinian-Israeli conflict has resulted in a public and mental health crisis. Despite the significant mental health burdens facing the Palestinian population in the Occupied Palestinian Territories (OPT) and refugee camps, this issue remains comprehensively unexplored.

Aims: This scoping review identified mental health interventions and assessed their effectiveness among populations in the OPT and Palestinian refugee camps, while addressing delivery challenges.

Oral Lichen Planus: A Narrative Review Navigating Etiologies, Clinical Manifestations, Diagnostics, and Therapeutic Approaches.

: Oral Lichen Planus (OLP) is a common immune-mediated inflammatory disorder affecting the oral mucosa, impacting 0.5% to 2% of the global population, primarily middle-aged women. Immunological dysregulation is a key factor in OLP's pathogenesis, involving CD4+ T helper and CD8+ T cytotoxic cells.