Single Nucleotide Polymorphisms and Adolescent Idiopathic Scoliosis: A Systematic Review and Meta-Analysis of the Literature.

STUDY DESIGN: Meta-analysis. OBJECTIVE: To determine the single nucleotide polymorphisms (SNPs) that are related to adult idiopathic scoliosis. SUMMARY AND BACKGROUND DATA: Adolescent idiopathic scoliosis (AIS) is considered one of the most prevalent spinal diseases. Even though the cause of AIS is yet to be determined, family history and sex have shown conclusive associations. Multiple studies have indicated that AIS is more prevalent in families where at least one other first-degree relative is similarly affected, indicating a possible genetic etiology to AIS. MATERIALS AND METHODS: Articles were collected from 3 different search engines and then processed in 2 stages for final article selection for quantitative analysis. Five different genetic models were represented to show the association between the different SNPs and AIS. The Hardy-Weinberg equilibrium was examined using Fisher exact test, with significance set at P <0.05. The final analysis paper's quality was evaluated using the Newcastle Ottawa Scale. Kappa interrater agreement was calculated to evaluate the agreement between authors. RESULTS: The final analysis comprised 43 publications, 19412 cases, 22005 controls, and 25 distinct genes. LBX1 rs11190870 T>C and MATN-1 SNPs were associated with an increased risk of AIS in one or all of the 5 genetic models. IGF-1 , estrogen receptor alfa, and MTNR1B , SNPs were not associated with AIS in all 5 genetic models. Newcastle Ottawa Scale showed good quality for the selected articles. Cohen k = 0.741 and Kappa interrater agreement of 84% showed that the writers were in strong agreement. CONCLUSIONS: There seem to be associations between AIS and genetic SNP. Further larger studies should be conducted to validate the results.

Folate Pathway Gene Single Nucleotide Polymorphisms and Neural Tube Defects: A Systematic Review and Meta-Analysis.

Neural tube defects (NTDs) are congenital abnormalities in the central nervous system. The exact etiology of NTDs is still not determined, but several genetic and epigenetic factors have been studied. Folate supplementation during gestation is recommended to reduce the risk of NTDs. In this review we examine single nucleotide polymorphisms (SNPs) of the genes in the folate pathway associated with NTD. We reviewed the literature for all papers discussing both NTDs and SNPs in the folate pathway. Data were represented through five different genetic models. Quality assessment was performed using the Newcastle-Ottawa Scale (NOS) and Cohen's Kappa inter-rater coefficient assessed author agreement. Fifty-nine papers were included. SNPs in MTHFR, MTRR, RFC genes were found to be highly associated with NTD risk. NOS showed that high quality papers were selected, and Kappa Q-test was 0.86. Our combined results support the notion that SNPs significantly influence NTDs across the population, particularly in Asian ethnicity. Additional high-quality research from diverse ethnicities is needed and meta-regression analysis based on a range of criteria may provide a more complete understanding of the role of folate metabolism in NTDs.

Surgical Outcomes with Midline versus Lateral Approaches for Cranial Base Chordomas: A Systematic Review and Meta-Analysis.

BACKGROUND: Cranial base chordomas are complex lesions centered on the clivus that surgically can be approached from either a midline or a lateral corridor. OBJECTIVE: To compare the surgical outcomes from midline versus lateral approaches by conducting a meta-analysis of the literature. METHODS: Studies were identified between 2000 and 2018. The primary outcome was gross total resection (GTR) rate. The secondary outcomes were recurrence rate and rates of cerebrospinal fluid (CSF) leak and new cranial nerve palsy. Odds ratios were calculated with a random-effect model using studies describing both approaches. An indirect (proportion) meta-analysis was performed pooling studies describing either of the approaches. Individual patient data were analyzed for differences in GTR or recurrence rate with different tumor extensions. RESULTS: Thirty-three studies were found suitable for indirect meta-analysis and 10 studies for direct meta-analysis. The overall odds of GTR with a midline approach compared with a lateral approach was 0.83 (95% confidence interval [CI], -0.43 to 1.62). The odds ratios for recurrence, CSF leak, and new cranial nerve palsy were 0.82 (95% CI, 0.26-2.56), 1.49 (95% CI, 0.14-15.5), and 0.14 (95% CI, 0.04-0.56), respectively. With individual patient data analysis, no statistically significant difference was observed in GTR or recurrence rates between the 2 approaches with different tumor extensions. CONCLUSIONS: The meta-analysis did not show any significant difference in GTR or recurrence rates between the midline versus lateral approaches. Tumor extension to different compartments did not affect the GTR or recurrence rates with either approach. In terms of complications, CSF leak rate was higher in midline approaches and cranial nerve palsy was higher in lateral approaches.

Is Intraoperative Ultrasound a Valuable Tool for Brain Arteriovenous Malformation Diagnosis and Treatment? A Case Report.

The localization of arteriovenous malformations (AVMs) intraoperatively in the setting of an acute intracerebral hemorrhage (ICH) is crucial to avoid damage of delicate vascular structures that may even further exacerbate the bleed. Currently, surgical mapping using preoperative angiographic is the standard of practice. We report the use of intraoperative ultrasound for the diagnosis and localization of an AVM in the case of a 61-year-old female with reported iodine contrast allergy and previous severe reaction, in a setting with limited resources, without other imaging options or timely transfer to another facility readily available. Immediate surgical care was warranted to avoid further deterioration of the patient; intraoperative diagnosis and localization of the suspected underlying lesion were done using ultrasound. The ultrasound display showed tubular anechoic intertwined structures that demonstrated bidirectional flow, which is suggestive of an AVM. The intraoperative diagnosis allowed the surgeon to avoid an inadvertent approach to the vascular malformation nidus or vessels, which could have further complicated the case. We believe that intraoperative ultrasound may be valuable for the neurosurgeons today in many settings. Despite the fact that this case occurred in a scenario with limited resources and no other imaging method (such as magnetic resonance imaging (MRI), magnetic resonance angiography (MRA)) available, we advise readers not to rely solely on intraoperative ultrasound.