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. METHODS: We performed whole exome sequencing in 143 individuals across 48 families where at least one offspring was affected with hydrocephalus (N.=27), with hydrocephalus with spina bifida (N.=21) and with DWS (N.=3), using Illumina HiSeq 2500 instrument. RESULTS: No pathogenic or putative pathogenic single-nucleotide variants were evident in the four known hydrocephalus loci in our subjects. However, after examining 73 known hydrocephalus genes previously identified from literature, we identified three potentially impactful variants from the cohort. Using a gene panel comprising variants in known neural tube defects loci, we identified a total of 1024 potentially deleterious variants, of which 797 were missense variants and 191 were frameshift variants, 36 were stop gain/loss variants. A small portion of our family pedigree analyses yielded putative genetic signals which may be responsible for hydrocephaly elated phenotypes, however the low diagnostic yield may be due to lack of capture of genetic variants in the exonic regions i.e. structural variants may only be evident from whole genome sequencing. CONCLUSIONS: We identified three potentially impactful variants from our cohort in 73 known hydrocephalus genes previously identified in literature.

Computer vision syndrome among Saudi population: An evaluation of prevalence and risk factors.

INTRODUCTION: In the recent era of technological evolution, electronic devices have become an essential part of our lives, not merely in professional work settings, but also in daily leisure activities. Although these devices have simplified our lives, they are associated with a wide variety of health complaints. Thus, the so-called computer vision syndrome (CVS) has become a growing public health problem and has gained significant attention as it plays an important role in the quality of life of each individual, which in turn has put an increased burden on the health care system. Eye symptoms are among the most reported, yet extraocular symptoms were frequently described as adding an extra load. METHOD: An electronic survey was distributed randomly through social media platforms among the general population in Saudi Arabia, between the period from July to December 2017, irrespective of their sociodemographic factors, aiming to determine the prevalence of CVS and to verify the most common associated risk factors. RESULTS: In total, 690 participants were involved in our study, with a mean age of 33.8 years. Of these, 77.6% suffer from CVS, with eye-burning being the most common ocular symptoms (71%), as well as itching (67.5%), blurred vision (65%), tearing (62.3%), and other eye symptoms being reported. Neck/shoulder pain was found to be the most prevalent extra ocular symptom (85.2%); also back pain and headache are frequently expressed (78% and 70% respectively). A significant positive correlation was observed between CVS symptoms and time spent using the devices (P-value: 0.002). CONCLUSION: As technology advances, electronic devices have become a common tool that is used for different purposes on daily basis. We found in our study that the so-called computer vision syndrome is a growing public health problem. Thus, community education about the impact of such a lifestyle for proper handling of electronic devices must be addressed to avoid such health complaints.

Gliosarcoma case report and review of the literature.

Gliosarcoma is an unusual subtype of glioblastoma multiforme. Its characteristic features are biphasic configuration, constituting a definite, separate glial and sarcomatous differentiation, on histological evaluation. Herein, we present a rare case of Gliosarcoma that had presented only once in our center in last 13 years. A 60 years old, diabetic, hypertensive male patient came to e emergency department with disturbed level of consciousness and right sided hemiplegia which was progressive over four days. On examination he was, conscious, unoriented in time, person or place, his mouth deviated to left and vitally stable. After initial evaluation, CT scan and MRI were advised. These showed a complex left parieto-occipital heterogeneous mass lesion with cystic and solid components, measuring approximately 5.2x4cm. The mass lesion was seen displacing the occipital horn anteriorly and inferiorly with probable extension into the lateral ventricular cavity. There was no associated midline shift or definite herniation. The lesion was diagnosed as highly suggestive of brain tumor with a differential diagnosis of glioblastoma multiforme or ependymoma. Blood picture revealed a rapidly increasing level of anemia. Surgical intervention comprising left parieto-occipital craniotomy and near total resection of the tumor was carried out. On histopathological and immunohistochemical evaluation the diagnosis of GS was established. A plan of a combination of adjuvant chemotherapy and radiation was formulated that was however, declined by the family. On regular follow up, the patients clinical state rapidly deteriorated with persistence of seizures and requirement of repeated blood transfusions. The patient finally passed away after eighth months.