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.

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.

Comparing Actual and Rounded Serum Creatinine Concentration for Assessing the Accuracy of Vancomycin Dosing in Elderly Patients: A Single-Center Retrospective Study.

Prescribers often face the challenge of predicting creatinine clearance (CrCl) in elderly patients who are 65 years or older and have serum creatinine (SCr) concentrations below 1 mg/dL. Studies have shown that utilizing rounded SCr would underestimate CrCl in this population, which could lead to the under-dosing of some medications like vancomycin. The current study aimed to compare the accuracy of vancomycin dosing using actual SCr versus rounded SCr to 1 mg/dL in elderly patients.

Enhancing Transplant Awareness and Acceptance Through Targeting Knowledge Gaps and Common Misconceptions.

Introduction Organ transplantation is a critical intervention for patients with end-stage organ failure, but misconceptions and knowledge gaps often hinder organ donation. This study evaluates the acceptability and effectiveness of an organ donation campaign focusing on addressing knowledge gaps and misconceptions in Riyadh, Saudi Arabia. Methods A two-day awareness campaign was conducted in a shopping mall, featuring four stations providing information on various aspects of organ donation.

Electronic Cigarette Prevalence and Knowledge Among Medical Students in Saudi Arabia and Bahrain: A Cross-National Study.

Background Electronic cigarettes (e-cigarettes and vapour devices) are the most commonly used form of alternative tobacco products (ATPs). The use of these vapour devices has been dramatically increasing worldwide, especially among current and former traditional cigarette smokers. A strong influence that will affect patients' health attitudes and play a crucial role in tobacco control and smoking cessation are medical students, as they are future physicians.