Citations

Abstract Introduction Genetic loci for Alzheimer's disease (AD) have been identified in whites of European ancestry, but the genetic architecture of AD among other populations is less understood. Methods We conducted a transethnic genome‐wide association study (GWAS) for late‐onset AD in Stage 1 sample including whites of European Ancestry, African‐Americans, Japanese, and Israeli‐Arabs assembled by the Alzheimer's Disease Genetics Consortium. Suggestive results from Stage 1 from novel loci were followed up using summarized results in the International Genomics Alzheimer's Project GWAS dataset. Results Genome‐wide significant (GWS) associations in single‐nucleotide polymorphism (SNP)–based tests ( P < 5 × 10 −8 ) were identified for SNPs in PFDN1/HBEGF , USP6NL/ECHDC3 , and BZRAP1‐AS1 and for the interaction of the (apolipoprotein E) APOE ε4 allele with NFIC SNP. We also obtained GWS evidence ( P < 2.7 × 10 −6 ) for gene‐based association in the total sample with a novel locus, TPBG ( P = 1.8 × 10 −6 ). Discussion Our findings highlight the value of transethnic studies for identifying novel AD susceptibility loci.

A 66-year-old, Caucasian male presented with pain and swelling involving the left knee of one-week duration. Arthrocentesis was negative for evidence of septic arthritis. Magnetic resonance imaging (MRI) study of the left knee showed degenerative arthritis, partial tear of medial meniscus, and a complex fluid collection along the posteromedial aspect of the left knee suggestive of popliteal cyst. He underwent arthroscopy with partial medial meniscectomy. Intraoperative joint fluid was noted to be cloudy but cultures were negative. Arthroscopic procedure provided him with temporary relief but the pain and swelling in the posterior aspect of the left knee recurred in 6 weeks. Repeat MRI showed complex fluid collection in the posterolateral aspect of left knee. Ultrasound guided aspiration of the fluid collection revealed purulent material and cultures grewActinomyces meyeri. He was treated with 6 weeks of intravenous penicillin regimen followed by 18 months of oral penicillin.

We present a 49-year-old female with one year of intermittent fevers, chills, night sweats, and significant weight loss. Liver and lung biopsy showed evidence of a granulomatous process. Blood and liver biopsy cultures yielded growth of presumedMycobacterium interjectum, thought to be related to a disseminated long-term central venous catheter infection. She successfully received one year of combined antimicrobial therapy after catheter removal without recurrence of disease.M. interjectumhas been previously described as a cause of lymphadenitis in healthy children and associated with pulmonary disease in adults, although other localized infections have been reported. This is the first case described of a disseminatedM. interjectuminfection with bacteremia, hepatic and pulmonary involvement associated with a long-term catheter infection.

Key Points An international panel established the first ever diagnostic criteria for iMCD based on review of 244 clinical cases and 88 tissue samples. The criteria require multicentric lymphadenopathy with defined histopathology, ≥2 clinical/laboratory changes, and exclusion of iMCD mimics.

Background Historically, lumbar drains (LD) have played a prominent role in endonasal skull base surgery. Over the past few decades, advancements in techniques have augmented our ability to successfully reconstruct complex skull base defects and often obviates the need for cerebrospinal fluid (CSF) diversion. Clarity on the appropriate use of LDs is needed. Objective To examine the literature for the need for LDs in contemporary skull base reconstruction after resection of skull base tumors. Methods A systematic literature review of English language articles by using PubMed and Ovid. Search terms included “lumbar drain,” “CSF leak,” and “endoscopic endonasal reconstruction.” Articles were included when they pertained to adults, used current methods for reconstruction (i.e., multilayered repair or vascularized tissue), and addressed CSF leak rates secondary to endoscopic resection of skull base masses. All the studies discussed CSF leaks that resulted from traumatic-, idiopathic-, or sinus surgery-related iatrogenic causes were excluded. The Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines were followed. Results A total of five articles met inclusion criteria. These comprised 376 endoscopic skull base tumor resection and reconstruction cases; 5.59% developed postoperative CSF leaks. A meta-analysis was conducted by incorporating three studies that met criteria based on testing for heterogeneity. The average odds ratio for postoperative CSF leak for patients who did not have an LD relative to patients who had an LD was 0.590 (95% confidence interval, 0.214–1.630). Given a p value of 0.30, the results demonstrated a lack of statistically significant improvement between patients who had an LD and patients who did not have an LD. Various details, such as the defect size and type of CSF leak, were not consistently reported among studies. Conclusions Available evidence for the use of LDs in skull base surgery is of poor quality. Analysis of the literature revealed heterogenous and varied reporting in the primary literature. Further studies that include randomized controlled trials are needed.

Introduction: Racial and ethnic groups are under-represented among research subjects who assent to brain donation in Alzheimer disease research studies. There has been little research on this important topic. Although there are some studies that have investigated the barriers to brain donation among African American study volunteers, there is no known research on the factors that influence whether or not Asians or Latinos are willing to donate their brains for research. Methods: African American, Caucasian, Asian, and Latino research volunteers were surveyed at 15 Alzheimer Disease Centers to identify predictors of willingness to assent to brain donation. Results: Positive predictors included older age, Latino ethnicity, understanding of how the brain is used by researchers, and understanding of what participants need to do to ensure that their brain will be donated. Negative predictors included African/African American race, belief that the body should remain whole at burial, and concern that researchers might not be respectful of the body during autopsy. Discussion: The predictive factors identified in this study may be useful for researchers seeking to increase participation of diverse ethnic groups in brain donation.