Clinical, Neurophysiological, Radiological, Pathological, and Genetic Features of Dysferlinopathy in Saudi Arabia.

Background: To characterize the phenotypic, neurophysiological, radiological, pathological, and genetic profile of 33 Saudi Arabian families with dysferlinopathy. Methods: A descriptive observational study was done on a cohort of 112 Saudi Arabian families with LGMD. Screening for the Dysferlin (DYSF) gene was done in a tertiary care referral hospital in Saudi Arabia. Clinical, Neurophysiological, Radiological, Pathological, and Genetic findings in subjects with dysferlin mutation were the primary outcome variables. Statistical analysis was done by Epi-info. Results: 33 out of 112 families (29.46%) registered in the LGMD cohort had Dysferlinopathy. 53 subjects (28 males, 52.83%) from 33 families were followed up for various periods ranging from 1 to 28 years. The mean age of onset was 17.79 ± 3.48 years (Range 10 to 25 years). Miyoshi Myopathy phenotype was observed in 50.94% (27 out of 53), LGMDR2 phenotype in 30.19% (16 out of 53), and proximodistal phenotype in 15.09% (8 out of 53) of the subjects. Loss of ambulation was observed in 39.62% (21 out of 53 subjects). Electrophysiological, Radiological, and histopathological changes were compatible with the diagnosis. Mean serum Creatinine Kinase was 6,464.45 ± 4,149.24 with a range from 302 to 21,483 IU/L. In addition, 13 dysferlin mutations were identified two of them were compound heterozygous. One founder mutation was observed c.164_165insA in 19 unrelated families. Conclusion: The prevalence of Dysferlinopathy was 29.46% in the native Saudi LGMD cohort. It is the most prevalent subtype seconded by calpainopathy. The clinical course varied among the study subjects and was consistent with those reported from different ethnic groups. One founder mutation was identified. Initial screening of the founder mutations in new families is highly recommended.

Correction to: Neurological and Medical Complications in Brain Tumor Patients.

The order of the authors was inadvertently inverted; Dr. Alyahya is the intended first author.

Neurological and Medical Complications in Brain Tumor Patients.

PURPOSE OF REVIEW: Patients with brain tumors are susceptible to multiple complications that can affect their survival or quality of life. The scope of these complications is widening due to prolonged overall survival and improved therapies. In this review, we discuss the most common complications in this patient population focusing on the recent literature. We specifically concentrated on tumor-related epilepsy, vasogenic edema, infectious, vascular, chemotherapeutic, radiation, endocrine, and cognitive complications. RECENT FINDINGS: Molecular biomarkers play a role in epileptogenicity in brain tumor patients, and anti-epileptic drugs may cause neuro-cognitive side effects independent of other factors. The pathophysiology of vasogenic edema remains complex and poorly understood. Limited data suggest that newer oral anticoagulants appear to be safe and effective in venous and arterial thromboembolic complications. Brain tumor patients are prone to a wide variety of complications, including some related to new therapies. Optimal management of these complications improves quality of life, and in some cases overall survival.

Takotsubo cardiomyopathy in aneurysmal subarachnoid hemorrhage: Institutional experience and literature review.

OBJECTIVES: To review the current practice in the diagnosis, monitoring and management of TCM in SAH patients at our tertiary referral institution and the relevant literature, and to evaluate the effect of certain treatment modalities on the outcome of those patients. PATIENTS AND METHODS: A retrospective institutional chart review of 800 patients with aneurysmal SAH from 2007 to 2014. Eighteen patients were identified to have both aneurysmal SAH and TCM based on echocardiogram. Demographic data, clinical parameters, radiographic findings, treatment modalities, and laboratory results were analyzed. RESULTS: The incidence of typical TCM in our patients was 2.2%. Mortality rate of TCM in SAH was 22% compared to the total mortality rate of all non-traumatic SAH patients of 15% in our institution over the same time period. Use of beta blockers prior to or after the diagnosis of TCM did not seem to affect their outcome. Majority of patients (61%) were on vasopressors prior to the diagnosis of TCM. Of those, 73% had good outcomes. Even after the diagnosis of TCM, good outcomes were observed in 6 of 7 patients who remained on vasopressors. CONCLUSION: Despite the general agreement on the importance of the avoidance of vasopressors in TCM, our experience showed that the use of vasopressors is safe in these patients. The use of beta blockers in our patients was not associated with significantly better outcomes despite multiple previous reports on beta blocker usage in TCM.

Subacute thyroiditis: clinical presentation and long term outcome.

Few studies have been reported from the Kingdom of Saudi Arabia (SA) to describe the clinical presentation and long term outcomes of subacute thyroiditis (SAT). Our aim was to review the demographic, anthropometric, clinical presentation, laboratory results, treatment, and disease outcome in Riyadh region and to compare those with results from different regions of the Kingdom and different parts of the world. We reviewed the medical files of patients who underwent thyroid uptake scan during an 8-year period in King Khalid University Hospital. Only 25 patients had confirmed diagnosis of thyroiditis. Age and gender distribution were similar to other studies. Most patients presented with palpitation, goiter, and weight change. Elevated thyroid hormones, suppressed thyroid-stimulating hormone, and elevated ESR were reported. Among those, 7 cases of SAT were recorded. ß -Blockers were prescribed to 57% and nonsteroidal anti-inflammatory drugs to 29% of SAT. Long follow-up demonstrated that 85.7% of SAT cases recovered, while 14.3% developed permanent hypothyroidism. In conclusion, SAT is uncommon in the central region of SA. Compared to the western region, corticosteroid is not commonly prescribed, and permanent hypothyroidism is not uncommon. A nation-wide epidemiological study to explain these interprovincial differences is warranted.

What determines the selection of undergraduate medical students to the specialty of their future careers?

BACKGROUND: It is important to understand the factors that influence the undergraduate medical students' specialties choice for the post-graduation. OBJECTIVES: To identify the number of undergraduate medical students who decided their post-graduate specialty career, factors that may influence their decision to select a particular specialty, and their career specialties preference. METHODS: A self-administered questionnaire was used to achieve the objectives. RESULTS: Less than half of the students (40.2%) showed a future specialty preference. Senior students and having background about specialties were the significant factors for career choices. General Surgery (27.4%), ENT-Ophthalmology (24.6%) and Internal Medicine (22%) were preferred specialties. Male students preferred General Surgery (15.7%), Internal Medicine (15%), ENT-Ophthalmology (12%) and Orthopedics (9.1%). Female students showed interest in ENT-Ophthalmology (12.1%), Surgery (11.7%), Pediatrics (10.8%) and Dermatology (8.2%). The least popular specialties were Community Medicine, (6.6%), Anesthesia, (6%) and Forensic Medicine (4.6%). Obstetrics and Gynecology (Ob/Gyne) was a less popular branch even in female students. CONCLUSIONS: General Surgery, ENT-Ophthalmology and Internal Medicine were the most preferred specialties, while Community Medicine, Forensic and Ob/Gyne, even for female students were least selected specialties. Proper information and counseling should be offered to students about the challenges and opportunities to select their future careers.