The role of RNA metabolism in neurological diseases.

Neurodegenerative disorders are commonly encountered in medical practices. Such diseases can lead to major morbidity and mortality among the affected individuals. The molecular pathogenesis of these disorders is not yet clear. Recent literature has revealed that mutations in RNA-binding proteins are a key cause of several human neuronal-based diseases. This review discusses the role of RNA metabolism in neurological diseases with specific emphasis on roles of RNA translation and microRNAs in neurodegeneration, RNA-mediated toxicity, repeat expansion diseases and RNA metabolism, molecular pathogenesis of amyotrophic lateral sclerosis and frontotemporal dementia, and neurobiology of survival motor neuron (SMN) and spinal muscular atrophy.

Gaps in knowledge and practice for familial hypercholesterolemia among physicians caring for children in Saudi Arabia.

OBJECTIVE: Familial hypercholesterolemia (FH) is an inherited genetic disorder that can lead to an early-onset cardiovascular disease if left untreated. Proper awareness of FH among physicians, particularly those taking care of children can facilitate early detection, diagnosis, and treatment. However, data regarding the knowledge, awareness, and practices of physicians in relation to FH are limited worldwide, so we aimed to explore this aspect. MATERIALS AND METHODS: This cross-sectional study was conducted among physicians who would potentially treat pediatric patients at governmental hospitals and primary health care centers in the Qassim region of Saudi Arabia. A self-administered questionnaire consisting of 28 questions that assessed the physicians' knowledge, awareness, and practices related to FH was distributed among the participants. RESULTS: In total, 148 physicians were recruited, including pediatricians, family physicians, and primary care physicians (males vs. females, 52.7% vs. 47.3%; most common age group, 31-40 years [44.6%]), of which 46.6% were familiar with FH. The total mean knowledge score was 5.54 (standard deviation, 3.12) out of 15 points, with 53.4%, 36.5%, and 10.1% of the participants showing inadequate, moderate, and adequate knowledge levels, respectively. The knowledge score was significantly better in the older age group (H=16.155; p=0.01) and among pediatric endocrinologists (H=16.155; p=0.001), while it was significantly lower among resident physicians (H=6.575; p=0.037) and those who had been practicing for 1-5 years (H=5.329; p=0.021). CONCLUSIONS: The current study established significant gaps in the awareness, knowledge, and practices related to FH. Pediatric endocrinologists had the best levels of knowledge of FH. These findings emphasize the need for more extensive educational programs regarding the screening, diagnosis, and management of FH.

Efficacy of argon plasma coagulation compared to topical formalin application for chronic radiation proctopathy.

BACKGROUND: Chronic radiation proctopathy (CRP) is a troublesome complication of radiotherapy to the pelvis for which current treatment modalities are suboptimal. Currently, the application of formalin to the rectal mucosa (AFR) and thermal ablation with argon plasma coagulation (APC) are the most promising options. OBJECTIVE: To compare the efficacy and safety of AFR with APC for CRP. PATIENTS AND METHODS: Records of 22 patients (male to female ratio, 19:3; mean age, 74 years) who received either APC or AFR for chronic hematochezia caused by CRP, and who were evaluated and treated between May 1998 and April 2002, were reviewed. Complete evaluations were made three months after completion of each therapeutic modality. Patients were considered to be responders if there was a 10% increase in hemoglobin from baseline or complete normalization of hemoglobin (male patients, higher than 130 g/L; female patients, higher than 115 g/L) without the requirement for blood transfusion. RESULTS: The mean hemoglobin level before therapy was 107 g/L. Patients received an average of 1.78 sessions for APC and 1.81 sessions for AFR. Eleven patients (50%) were treated with APC alone, eight patients (36%) with AFR alone and three (14%) with both modalities (two with AFR followed by APC, and one with APC followed by AFR). Eleven of 14 patients (79%) in the APC group were responders, compared with three of 11 patients (27%) in the AFR group (P=0.017). In the APC group, seven of 11 responders required only a single session, while in the AFR group, only one patient responded after a single session. Adverse events (nausea, vomiting, flushing, abdominal cramps, rectal pain and fever) occurred in two patients after APC and in nine patients after AFR (P=0.001). In the APC group, the mean hemoglobin level increase was 20 g/L at three months follow-up, compared with 14 g/L in the AFR group. CONCLUSION: This retrospective study suggests that APC is more effective and safe than topical AFR to control hematochezia caused by CRP. Further studies are needed to confirm this observation.