Multi-ancestry genome-wide association meta-analysis of Parkinson?s disease

Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we performed a large-scale multi-ancestry meta-analysis of Parkinson’s disease with 49,049 cases, 18,785 proxy cases and 2,458,063 controls including individuals of European, East Asian, Latin American and African ancestry. In a meta-analysis, we identified 78 independent genome-wide significant loci, including 12 potentially novel loci (MTF2, PIK3CA, ADD1, SYBU, IRS2, USP8, PIGL, FASN, MYLK2, USP25, EP300 and PPP6R2) and fine-mapped 6 putative causal variants at 6 known PD loci. By combining our results with publicly available eQTL data, we identified 25 putative risk genes in these novel loci whose expression is associated with PD risk. This work lays the groundwork for future efforts aimed at identifying PD loci in non-European populations

Revision Functional Endoscopic Sinus Surgery

Refractory chronic rhinosinusitis can be challenging to treat. Initial treatment focuses on medical and nonsurgical treatments. If these treatments fail, revision endoscopic sinus surgery is an option. A plan for revision surgery must address anatomic factors contributing to recurrence. Preoperative imaging and sinonasal endoscopy are systematically reviewed; areas of disease and “danger” zones are identified. Traditional anatomic landmarks are often obscured or absent; thus, a set of consistent landmarks (unchanged despite prior surgery) are used to navigate the revision endoscopic sinus surgery. Wide sinusotomies permit visualization and access to disease intraoperatively. Large sinus openings also facilitate post-operative debridements in clinic, endoscopic disease monitoring, and topical sinus therapy

Traumatic CSF Leaks

The majority of cerebrospinal fluid (CSF) leaks result from some form of skull base trauma. Injuries to the base of skull can be the result of accidental injury or intraoperative (iatrogenic) injury. The type of injury can have an important impact on CSF leak management. This chapter reviews the types of traumatic CSF leak and the subsequent treatment options that can be considered

Assessment of Available Online Information About Nasopharyngeal Swab Testing in Patient Instructions for Sinus and Pituitary Surgery

This cross-sectional study assess online preoperative and postoperative patient information regarding the potential risks of severe acute respiratory syndrome coronavirus 2 nasopharyngeal swab testing for those with a history of sinus or skull-base surgery

The Efficiency of Protein Compartmentalization into the Secretory Pathway

Numerous proteins targeted for the secretory pathway are increasingly implicated in functional or pathological roles at alternative cellular destinations. The parameters that allow secretory or membrane proteins to reside in intracellular locales outside the secretory pathway remain largely unexplored. In this study, we have used an extremely sensitive and quantitative assay to measure the in vivo efficiency of signal sequence-mediated protein segregation into the secretory pathway. Our findings reveal that segregation efficiency varies tremendously among signals, ranging from >95 to <60%. The nonsegregated fraction is generated by a combination of mechanisms that includes inefficient signal-mediated translocation into the endoplasmic reticulum and leaky ribosomal scanning. The segregation efficiency of some, but not other signal sequences, could be influenced in cis by residues in the mature domain or in trans by yet unidentified cellular factors. These findings imply that protein compartmentalization can be modulated in a substrate-specific manner to generate biologically significant quantities of cytosolically available secretory and membrane proteins

Reporting of Participants' Sex, Race, Ethnicity, and Socioeconomic Status in Pituitary Surgery Literature

Abstract Introduction Social determinants of health (SDOH) are associated with differential outcomes after pituitary tumor treatment. However, the specific impact of SDOH is not well characterized. One reason may be the lack of collection and reporting of sociodemographic variables in the literature. This study aims to evaluate the frequency of reporting and distribution of participants' sex, race, ethnicity, income, and education level within pituitary surgery literature. We will compare the reported clinical research population demographics to the 2020 U.S. census. Methods A systematic review was performed by searching PubMed, Cochrane, and Embase databases for pituitary surgery clinical research published between July 1, 2021 to June 30, 2022. We excluded studies that lacked a comparison group, were not original research (i.e., systematic reviews, meta-analysis), or included national databases and registry data. Results The final analysis included 92 studies. A total of 99% of studies collected data on subject sex. On average 49% (range: 14–100%) of study populations were male. Only 4% (n = 4) studies included racial demographic data. Two studies included information on participants' ethnicity and two included education background. No studies included income or insurance data. Four U.S. studies included demographic distribution, and the reported race and ethnicity percentages are similar to the U.S. 2020 census distribution. Conclusions Most clinical pituitary research collects and reports data on participant sex. However, very few studies collect and report data on other sociodemographic variables that can play a role in outcomes. The lack of sociodemographic information in clinical research literature makes it difficult to determine the role of SDOH on pituitary surgery outcomes