Subarachnoid hemorrhage: tests of association with apolipoprotein E and elastin genes

<p>Abstract</p> <p>Background</p> <p>Apolipoprotein E (<it>APOE</it>) and elastin (<it>ELN</it>) are plausible candidate genes involved in the pathogenesis of stroke. We tested for association of variants in <it>APOE </it>and <it>ELN </it>with subarachnoid hemorrhage (SAH) in a population-based study. We genotyped 12 single nucleotide polymorphisms (SNPs) on <it>APOE </it>and 10 SNPs on <it>ELN </it>in a sample of 309 Caucasian individuals, of whom 107 are SAH cases and 202 are age-, race-, and gender-matched controls from the Greater Cincinnati/Northern Kentucky region. Associations were tested at genotype, allele, and haplotype levels. A genomic control analysis was performed to check for spurious associations resulting from population substructure.</p> <p>Results</p> <p>At the <it>APOE </it>locus, no individual SNP was associated with SAH after correction for multiple comparisons. Haplotype analysis revealed significant association of the major haplotype (Hap1) in <it>APOE </it>with SAH (<it>p </it>= 0.001). The association stemmed from both the 5' promoter and the 3' region of the <it>APOE </it>gene. <it>APOE </it>ε2 and ε 4 were not significantly associated with SAH. No association was observed for <it>ELN </it>at genotype, allele, or haplotype level and our study failed to confirm previous reports of <it>ELN </it>association with aneurysmal SAH.</p> <p>Conclusion</p> <p>This study suggests a role of the <it>APOE </it>gene in the etiology of aneurysmal SAH.</p

Interhospital Transfer Before Thrombectomy Is Associated With Delayed Treatment and Worse Outcome in the STRATIS Registry (Systematic Evaluation of Patients Treated With Neurothrombectomy Devices for Acute Ischemic Stroke).

BACKGROUND: Endovascular treatment with mechanical thrombectomy (MT) is beneficial for patients with acute stroke suffering a large-vessel occlusion, although treatment efficacy is highly time-dependent. We hypothesized that interhospital transfer to endovascular-capable centers would result in treatment delays and worse clinical outcomes compared with direct presentation. METHODS: STRATIS (Systematic Evaluation of Patients Treated With Neurothrombectomy Devices for Acute Ischemic Stroke) was a prospective, multicenter, observational, single-arm study of real-world MT for acute stroke because of anterior-circulation large-vessel occlusion performed at 55 sites over 2 years, including 1000 patients with severe stroke and treated within 8 hours. Patients underwent MT with or without intravenous tissue plasminogen activator and were admitted to endovascular-capable centers via either interhospital transfer or direct presentation. The primary clinical outcome was functional independence (modified Rankin Score 0-2) at 90 days. We assessed (1) real-world time metrics of stroke care delivery, (2) outcome differences between direct and transfer patients undergoing MT, and (3) the potential impact of local hospital bypass. RESULTS: A total of 984 patients were analyzed. Median onset-to-revascularization time was 202.0 minutes for direct versus 311.5 minutes for transfer patients ( CONCLUSIONS: In this large, real-world study, interhospital transfer was associated with significant treatment delays and lower chance of good outcome. Strategies to facilitate more rapid identification of large-vessel occlusion and direct routing to endovascular-capable centers for patients with severe stroke may improve outcomes. CLINICAL TRIAL REGISTRATION: URL: https://www.clinicaltrials.gov. Unique identifier: NCT02239640

Pediatric pelvic fracture urethral distraction defect causing complete urethrovaginal avulsion

Pelvic fracture with urethral injury in girls is an uncommon entity that is usually associated with concomitant vaginal lacerations. Management options vary from immediate exploration and urethral anastomosis to delayed urethroplasty. We report our experience of managing a 10-year old girl presenting 6 months after a pelvic fracture with urethrovaginal injury and a completely obliterated urethral meatus managed successfully with a single-stage bladder tube repair

Report of primary leiomyosarcoma of renal pelvis and literature review

Primary sarcomas of kidney are exceptionally rare tumors, accounting for only 1-2% of all malignant tumors of kidney. Leiomyosarcoma (LMS) is the most common histological subtype among all renal sarcomas. The authors describe here a case of primary leiomyosarcoma of renal pelvis in a 50-year-old lady, presenting with flank pain. Based on triple phase cardio-electroencephalographic covariance tracing abdomen, presumptive diagnosis of renal cell carcinoma/renal sarcoma/neurogenic tumor was made and patient underwent radical nephrectomy. Microscopy reflected spindle cell tumor which showed strong positivity for desmin and smooth muscle actin with negative epithelial markers, thereby confirming the diagnosis of renal LMS. Owing to aggressive nature and low survival rates of LMS patient received adjuvant treatment in form of chemotherapy and radiotherapy. Patient is doing well 1 year post treatment

Type 2 Diabetes and Three Calpain-10 Gene Polymorphisms in Samoans: No Evidence of Association

Although genomewide scans have identified several potential chromosomal susceptibility regions in several human populations, finding a causative gene for type 2 diabetes has remained elusive. Others have reported a novel gene, calpain-10 (CAPN10), located in a previously identified region on chromosome 2q37.3, as a putative susceptibility gene for type 2 diabetes. Three single-nucleotide polymorphisms (SNPs) (UCSNP43, UCSNP19, and UCSNP63) were shown to be involved in increased risk of the disease among Mexican Americans. We have tested the association of these three SNPs with type 2 diabetes among the Samoans of Polynesia, who have a very high prevalence of the disease. In the U.S. territory of American Samoa, prevalence is 25% and 15% in men and women, respectively, whereas, in the independent nation of Samoa, prevalence is 3% and 5% in men and women, respectively. In our study sample, which consisted of 172 unrelated affected case subjects and 96 control subjects, we failed to detect any association between case subjects and control subjects in allele frequencies, haplotype frequencies, or haplotype combinations of UCSNP43, -19, and -63. Also, our data showed no evidence of linkage, among 201 affected sib pairs, in the region of chromosome 2 that contains these SNPs. Three plausible scenarios could explain these observations. (1) CAPN10 is a susceptibility gene only in particular ethnic groups; (2) our study lacks power to detect the effects of CAPN10 polymorphisms (but our sample size is comparable to that of earlier reports); or (3) the underlying biological mechanism is too complex and requires further research