Citations

Abstract Background and Aims Truncating variants in the TTN gene (TTNtv) are the most common genetic cause of dilated cardiomyopathy (DCM) but also occur as incidental findings in the general population. This study investigated factors associated with the clinical manifestation of TTNtv. Methods An international multicentre retrospective observational study was performed in families with TTNtv-related DCM. Shared frailty models were used to estimate associations of variant characteristics with lifetime risk of DCM, and logistic regression to estimate odds ratios (ORs) for individual-level clinical risk factor profiles (cardiac conditions, cardiovascular comorbidities, lifestyle) and DCM. Results A total of 3158 subjects in 1043 families with TTNtv-related DCM were studied. TTNtv-positive subjects were 21-fold more likely to develop DCM [OR, 21.21; 95% confidence interval (CI), 14.80–30.39]. Disease onset was earlier in males, but was similar for TTNtv of different types and locations. The presence of clinical risk factors was associated with earlier DCM onset (OR, 3.41; 95% CI, 2.06–5.64), with a prior history of atrial fibrillation having a two-fold increased odds of DCM (OR, 2.05; 95% CI, 1.27–3.32). The prevalence of clinical risk factors increased with age; however, the strength of the DCM association was greatest for young-onset (<30 years) disease (OR, 4.75; 95% CI, 2.35–9.60). Administration of beta-adrenergic receptor or renin-angiotensin system-blocking drugs prior to overt DCM was associated with 87% reduced odds of DCM (OR, .13; 95% CI, .08–.23). Conclusions Disease onset in TTNtv-associated familial DCM is dependent on individual patient context and is potentially modifiable by risk factor management and prophylactic therapeutic intervention.

Case: An upper trunk brachial plexus injury patient underwent ulnar motor fascicular to biceps motor nerve transfer. At 6 months postoperative, the patient had trace biceps firing but was diagnosed with an unrecognized rupture of the distal biceps tendon, requiring reconstruction. Another patient with C5-T1 injury was noted to have distal biceps tendon rupture at the time of gracilis muscle transfer. Both patients had gravity-assisted elbow flexion at 1-year follow-up. Conclusion: Biceps rupture is an uncommon concomitant injury with brachial plexus trauma and challenging to diagnose in the context of a paretic limb. Thorough history and intraoperative biceps tendon palpation will ensure these injuries are identified.

Objective Mechanical thrombectomy (MT) is well-established for the treatment of acute ischemic stroke (AIS) from large vessel occlusion (LVO), with growing data supporting the expansion to distal and medium vessel occlusions (DMVO). Despite successful recanalization in DMVO, certain patients still experience poor long-term clinical outcomes, prompting our study to comprehensively explore pre-MT factors influencing outcome despite excellent recanalization (final modified Thrombolysis in Cerebral Infarction [mTICI] score ≥2c). Methods We retrospectively examined data from patients who consecutively underwent MT for a primary middle cerebral artery (MCA) DMVO across 37 centers in North America, Asia, and Europe. We identified baseline clinical and imaging factors associated with poor clinical outcome (defined as a modified Rankin Scale [mRS] score of 3–6) at 3 months, despite excellent recanalization using a multivariable model. Results Between September 2017 and July 2021, 623 patients achieved mTICI > 2b and they were included in our study. Among them, 198 (32%) experienced a poor clinical outcome (mRS 3–6). Predictors of poor clinical outcome included higher age (OR 1.05 [1.03–1.07], p < 0.001), higher NIHSS at admission (OR 1.12 [1.08–1.15], p < 0.001), higher baseline mRS (OR 1.77 [0.96–3.26], p = 0.067), and diabetes (OR 1.59 [1.01–2.48], p = 0.044). Higher ASPECTS was associated with a decreased risk of poor clinical outcome (OR 0.82 [0.71–0.94], p = 0.006). Conclusion Older age, diabetes, higher baseline mRS, and NIHSS were associated with poor clinical outcome in MCA DMVO despite excellent recanalization. Conversely, a higher ASPECTS decreased the probability of such an outcome.

Abstract INTRODUCTION Monoclonal anti‐amyloid therapies are now accessible, but how these treatments influence changes within the brain is still not clear. We investigated overall and regional change in amyloid removal, glucose metabolism, and atrophy in trial participants with dominantly inherited Alzheimer's disease (DIAD). METHODS In the DIAN‐TU‐001 trial, 92 carriers received gantenerumab or placebo and underwent serial neuroimaging assessments including [ 11 C]‐Pittsburgh compound‐B (PiB) positron emission tomography (PET), [ 18 F]‐fluoro‐2‐deoxyglucose (FDG) PET, and magnetic resonance imaging (MRI). RESULTS Gantenerumab significantly reduced PiB‐PET uptake overall and in most regions and showed no changes in FDG‐PET or MRI measures. Drug effects were associated with baseline PiB‐PET uptake, and the largest effects occurred in medial regions. DISCUSSION Treated DIAD participants, and especially those with higher amyloid burden, showed a decrease in PiB‐PET uptake, which was more pronounced in the basal ganglia and medial frontal structures. These results may inform patient response and future drug trial design. Highlights Gantenerumab unevenly decreased Aβ burden as measured by PiB‐PET across brain regions. The strongest decrease in PiB‐PET uptake was in basal ganglia and medial frontal structures. Variable drug effect on Aβ was partly due to the amount of burden present before treatment. There was no regional effect on FDG‐PET metabolism or MRI volumetrics after 4 years.

Context.— After-death care can be complicated and time-consuming for clinical staff, and frustrating for bereaved families. Delays and errors can have damaging legal and reputational consequences for hospitals. Offices of Decedent Affairs (ODAs) have been proposed as a solution, and their potential benefits have been described in several single institution reports. The literature lacks a contemporary and comprehensive review of existing ODAs and their approaches. Objective.— To describe the process of establishing a new ODA and to provide a snapshot of the spectrum of structure, function, and impact of existing ODAs in the United States. Design.— A survey was administered to 11 established ODAs spread across the continental United States. Programs were identified through the College of American Pathologists Autopsy Committee and a Medical Autopsy Listserv. Results.— Eleven ODAs returned the survey, representing more than 190 cumulative years of experience in decedent care in the hospital setting (median, 10 years). There was a wide range in staffing (both staff size and background) as well as scope of services offered. The median ratio of hospital deaths to full-time equivalent (FTE) staffing was 360 deaths per FTE. Respondents reported that ODAs unburden clinical providers and facilitate decedent management. Some respondents reported a quicker turnover of hospital beds and shorter intervals between pronouncement of death and autopsy. ODAs increased autopsy rates when the autopsy services were part of the ODA. Conclusions.— This survey provides practical information for hospitals considering establishing a new ODA and useful benchmarks for existing ODA programs.

Context.— Decedent Affairs Offices and Programs can serve as an avenue to assist medical centers in facilitating efficient and comprehensive decedent management, despite a paucity of literature on their roles, establishment, and efficacy. Objective.— To characterize the motivations and rationales for establishing Decedent Affairs Offices. Design.— A survey was administered to 11 established Decedent Affairs Offices/Programs, identified through the College of American Pathologists Autopsy Committee and a Medical Autopsy Listserv. The questions comprehensively cover establishment, operations, and outcomes data available by institution. Results.— Survey respondents reported the rationale for starting their programs and the benefits such offices can have. Conclusions.— Decedent Affairs Offices and Programs provide a useful option to medical centers to navigate the increasingly complex task of comprehensive decedent management. The present survey helps to delineate the similarities and differences between these programs at 11 institutions, to aid nascent programs in their establishment and growth over time.

OBJECTIVE Mechanical thrombectomy (MT) is well established for large-vessel occlusion (LVO) strokes, but its safety in distal and medium-vessel occlusions (DMVOs) requires further investigation. This study analyzed the relationship between procedural approaches, petechial hemorrhage (PetH), and clinical outcomes in DMVO thrombectomy, with particular attention to technical considerations and the complex interplay between tissue injury and hemorrhagic complications. METHODS A retrospective cohort study was conducted on DMVO stroke patients treated with MT at 37 stroke centers worldwide from 2016 to 2024. Patients were categorized based on follow-up imaging into those with or without PetH. Four logistic regression models analyzed the association of PetH with favorable functional outcomes (modified Rankin Scale score ≤ 2) at 90 days, early neurological improvement (≥ 4-point National Institutes of Health Stroke Scale score decrease at 24 hours), all-cause mortality, and independent determinants of PetH. Adjusted odds ratios (aORs), 95% confidence intervals, and p values were reported. RESULTS Of 1428 patients, 439 (30.7%) developed PetH. Factors independently associated with PetH were multiple thrombectomy passes (aOR 1.58, 95% CI 1.21–2.06; p = 0.001), IV thrombolysis (aOR 1.31, 95% CI 1.01–1.69; p = 0.04), and the combined use of a stent retriever with aspiration as the first-line method compared with aspiration alone (aOR 1.66, 95% CI 1.15–2.38; p = 0.007). Conversely, general anesthesia (aOR 0.55, 95% CI 0.40–0.77; p < 0.001), higher Alberta Stroke Program Early CT Scores (aOR 0.76, 95% CI 0.69–0.83; p < 0.001), and successful recanalization (aOR 0.56, 95% CI 0.39–0.80; p = 0.002) were significantly associated with a lower odds of PetH. PetH was associated with a decreased odds of favorable functional outcomes (aOR 0.51, 95% CI 0.36–0.73; p < 0.001), reduced early neurological improvement (aOR 0.59, 95% CI 0.44–0.79; p < 0.001), and increased all-cause mortality (aOR 1.84, 95% CI 1.23–2.76; p < 0.001). CONCLUSIONS PetH is a frequent sequela following MT in DMVO strokes and is associated with poorer outcomes, likely reflecting underlying ischemic injury rather than direct causation. Procedural factors influence PetH risk, suggesting medical treatment as first-line therapy for DMVOs, with MT reserved for refractory cases using less aggressive approaches.

Abstract Background Medical chaperones are authorized individuals present during physical examinations involving the genitals, breasts/chest, or anal areas. The use of medical chaperones may provide an opportunity to improve transgender and gender diverse (TGD) patients’ experiences with sensitive examinations. Aim To examine TGD adult patients’ preferences and comfort for having a medical chaperone and whether TGD-specific characteristics, social anxiety symptoms, and feelings of medical mistrust are associated with preference for having a medical chaperone present during a sensitive physical examination. Methods This study used a cross-sectional survey that randomly sampled adult patients from a gender clinic in the Midwest region of the U.S. A total of 420 surveys were mailed. Sixty-two surveys were returned undeliverable, 358 reached recipients; 151 were returned (42.1% response rate). The survey included items related to demographics, gender-related anatomical dysphoria, social anxiety symptoms, feelings of medical mistrust, and preference and comfort towards medical chaperones. Results Among 149 respondents, 74 (49.7%) reported comfort for the idea of having a medical chaperone present during a sensitive physical examination, 50 (33.6%) reported neutral comfort, and 25 (16.8%) reported discomfort. Among 147 respondents, 89 (60.5%) endorsed a preference for a female medical chaperone. We found no associations between gender-related anatomical dysphoria or social anxiety symptoms and comfort for having a medical chaperone, or the gender preference for a medical chaperone. Medical mistrust was associated with lower comfort with having a medical chaperone present during a sensitive physical examination. Clinical Implications Routinely offering medical chaperones, especially female chaperones, is like to be generally acceptable to most TGD patients. These findings may inform clinic policies on providing medical chaperones during sensitive examinations. Strengths and Limitations This study is the first to examine TGD preferences for medical chaperones. Findings are limited by a single site, homogeneous sample, cross-sectional design, and reliance on hypothetical rather than observed examinations. Conclusion TGD adults report comfort with the concept of having a medical chaperone during sensitive examinations and most would prefer the chaperone to be female. Preference for having a medical chaperone present during a sensitive physical exam is not likely influenced by gender dysphoria or social anxiety.