Spinal muscular atrophy carrier frequency in Saudi Arabia.

Background: Spinal Muscular Dystrophy (SMA) is one of the leading causes of death in infants and young children from heritable diseases. Although no large-scale popultion-based studies have been done in Saudi Arabia, it is reported that the incidence of SMA is higher in the Saudi population partly because of the high degree of consanguineous marriages.

Methods: The final analysis included 4198 normal volunteers aged between 18 and 25 years old, 54.

COVID-19 Pandemic Was Associated with Lower Activity but Not Higher Perioperative Mortality in a Large Eastern European Center.

BACKGROUND Surges of critically ill patients can overwhelm hospitals during pandemic waves and disrupt essential surgical activity. This study aimed to determine whether hospital mortality increased during the COVID-19 pandemic and during pandemic waves. MATERIAL AND METHODS This was a retrospective analysis of a prospective, observational, epidemiological database.

Combined quadriceps tendon reconstruction and total knee replacement with computer navigation: a case report.

Background: Chronic quadriceps tendon rupture is technically challenging for surgeons due to scarring and tendon retraction. The presence of concurrent ipsilateral knee osteoarthritis compounds the issue even further. Although a combined presentation is rare, treatment options to manage each coexisting pathology simultaneously are scarcely reported.

Angioleiomyoma as a rare cause of a painful subcutaneous nodule in the leg: a case report.

Angioleiomyomas are benign tumors originating in the vascular smooth muscles. The tumor typically presents as a painful, solitary, small subcutaneous nodule. Herein, we have described a case report of chronic leg pain due to angioleiomyoma.

Differential Gene Expression in Peripheral White Blood Cells with Permissive Underfeeding and Standard Feeding in Critically Ill Patients: A Descriptive Sub-study of the PermiT Randomized Controlled Trial.

The effect of short-term caloric restriction on gene expression in critically ill patients has not been studied. In this sub-study of the PermiT trial (Permissive Underfeeding or Standard Enteral Feeding in Critically Ill Adults Trial- ISRCTN68144998), we examined gene expression patterns in peripheral white blood cells (buffy coat) associated with moderate caloric restriction (permissive underfeeding) in critically ill patients compared to standard feeding. Blood samples collected on study day 1 and 14 were subjected to total RNA extraction and gene expression using microarray analysis.