Family-base rare variant association analysis in Saudi Arabian hydrocephalus subjects using whole exome sequencing.

Background: Hydrocephalus is a highly heterogeneous multifactorial disease that arises from genetic and environmental factors. Familial genetic studies of hydrocephalus have elucidated four robustly associated hydrocephalus associated loci. This study aims to identify potential genetic causation in cases of hydrocephalus, with or without spina bifida and Dandy Walker Syndrome (DWS), using family-based rare variant association analysis of whole exome sequencing.

Whole-exome sequencing of a Saudi epilepsy cohort reveals association signals in known and potentially novel loci.

Background: Epilepsy, a serious chronic neurological condition effecting up to 100 million people globally, has clear genetic underpinnings including common and rare variants. In Saudi Arabia, the prevalence of epilepsy is high and caused mainly by perinatal and genetic factors. No whole-exome sequencing (WES) studies have been performed to date in Saudi Arabian epilepsy cohorts.

Comparison between esomeprazole 20 mg Vs 40 mg as stress ulcer prophylaxis (SUP) in critically ill patients: A retrospective cohort study.

Critically ill patients admitted to intensive care units (ICUs) are at high risk of developing upper gastrointestinal bleeding due to GI stress ulceration (SU). The major independent risk factors for the development of GI bleeding in the ICUs include mechanical ventilation (MV) and coagulopathy. There is no enough evidence regarding the most appropriate dosing of esomeprazole as stress ulcer prophylaxis (SUP) in critically ill patients.

A Case of Trigeminal Schwannoma Presenting as a Parasellar Mass.

Schwannoma's of considerable size arising from the trigeminal nerve are very rare. Here, a case of a large right-sided parasellar mass diagnosed as a trigeminal schwannoma is reported. Complete resection of the tumor was successfully achieved.

Adult Desmoplastic Medulloblastoma.

Medulloblastoma is more common in young age and rare in adult age. Some characteristics that characterize medulloblastoma in adults compared with children: Lateral cerebellar location, heterogeneous signal intensity on magnetic resonance imaging, desmoplastic histological variant and more favorable prognosis. Preoperative diagnosis is important for correct management of these patients.

Mixed vestibular schwannoma and meningioma without neurofibromatosis.

The co-existence of meningioma and schwannoma as 2 distinct histologic components within the same tumor has been described in neurofibromatosis 2 (NF2), but the co-existence of both tumors without evidence of NF2 is much rarer. Here, we are reporting a case of mixed schwannoma with meningioma without clinical evidence of NF2. In an adult Saudi lady with progressive left-sided hearing loss, left cerebellopontine tumor was diagnosed by MRI, and the histopathological diagnosis revealed that this tumor was composed of vestibular schwannoma and meningioma.

In uteroventriculo-amniotic shunt for hydrocephalus.

Introduction: Hydrocephalus is one of the most common congenital anomalies affecting the central nervous system especially in developing countries for several reasons including prohibition of abortion in many countries. The technological advances in methods of intrauterine diagnosis of congenital malformation made it possible to detect early enlargement of the ventricles and diagnose hydrocephalus as early as 15 weeks of gestational age. Many trials of intrauterine shunting proved unsuccessful, mainly because of complications such as intra- or extracranial shunt migration, obstruction, infection, and malposition.

Experience with severe head injury and role of intracranial pressure monitoring in Eastern Saudi Arabia.

Objective: Severe head injury is the leading cause of death in the younger age group and it is an epidemic health problem in Saudi Arabia. Several factors contribute to this observation. These include socio-economic prosperity, poor driving behavior and attitudes.