Objective This study was undertaken to compare the rate of change in cognition between glucocerebrosidase (GBA) mutation carriers and noncarriers with and without subthalamic nucleus deep brain stimulation (STN‐DBS) in Parkinson disease. Methods Clinical and genetic data from 12 datasets were examined. Global cognition was assessed using the Mattis Dementia Rating Scale (MDRS). Subjects were examined for mutations in GBA and categorized as GBA carriers with or without DBS (GBA+DBS+, GBA+DBS‐), and noncarriers with or without DBS (GBA‐DBS+, GBA‐DBS‐). GBA mutation carriers were subcategorized according to mutation severity (risk variant, mild, severe). Linear mixed modeling was used to compare rate of change in MDRS scores over time among the groups according to GBA and DBS status and then according to GBA severity and DBS status. Results Data were available for 366 subjects (58 GBA+DBS+, 82 GBA+DBS‐, 98 GBA‐DBS+, and 128 GBA‐DBS‐ subjects), who were longitudinally followed (range = 36–60 months after surgery). Using the MDRS, GBA+DBS+ subjects declined on average 2.02 points/yr more than GBA‐DBS‐ subjects (95% confidence interval [CI] = −2.35 to −1.69), 1.71 points/yr more than GBA+DBS‐ subjects (95% CI = −2.14 to −1.28), and 1.49 points/yr more than GBA‐DBS+ subjects (95% CI = −1.80 to −1.18). Interpretation Although not randomized, this composite analysis suggests that the combined effects of GBA mutations and STN‐DBS negatively impact cognition. We advise that DBS candidates be screened for GBA mutations as part of the presurgical decision‐making process. We advise that GBA mutation carriers be counseled regarding potential risks associated with STN‐DBS so that alternative options may be considered. ANN NEUROL 2022;91:424–435
Based on our observations, some of the so-called 'eruptive syringoma' may represent a hyperplastic response of the eccrine duct to an inflammatory reaction rather than a true adnexal neoplasm. We proposed the term 'syringomatous dermatitis' for such cases.
Culture bump theory provides a practical and goal‐oriented framework for addressing cultural differences that can impact communication and patient care. Differences in language and culture, coupled with a lack of knowledge or competency regarding these differences, often contribute to ‘culture bumps’ between healthcare providers and patients. Interpreters serve the unique role of ‘cultural brokers’, going beyond bridging the linguistic divide to close cultural gaps. Research from the perspective of interpreters focused on culture bumps and cultural competency within genetic counseling sessions is lacking. We aimed to assess interpreters’ experiences with significant ‘culture bumps’ in genetic counseling sessions, obtain interpreters’ perspectives regarding genetic counselors’ gaps in cultural competency, and explore interpreters’ perceptions of the impact of cultural competency on the genetic counseling sessions. Spanish and Polish interpreters experienced in working in person with genetic counselors were recruited through interpreter supervisors at medical centers, hospitals, and interpreter training and service agencies in the Chicagoland area. Using a semi‐structured interview guide, phone interviews were conducted with eligible participants and transcribed verbatim. A codebook was developed between two coders, and inter‐rater reliability was assessed (κ = 0.82). Grounded theory was used as a guiding principle to code data. The results of this study revealed significant culture bumps identified by interpreters in genetic counseling sessions in the areas of exchange of information, gender and family dynamics, and incorporation of religious and faith beliefs. Interpreters identified the impact on rapport, both negative and positive, due to gaps and strengths in cultural competency, respectively. These responses offer useful insight for training and providing practicing genetic counselors with tools to promote cultural competency, in order to provide optimal care for patients with limited English proficiency (LEP). Further research is necessary to explore these concepts within other languages and cultures, as well as to determine the most appropriate methods for implementing these suggestions for improvement.
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