Citations

Abstract In 2024, the National Academies of Sciences, Engineering, and Medicine (NASEM) published a report entitled Advancing Research on Chronic Conditions in Women. A major purpose of this report was to summarize the current state of research into a series of 21 chronic conditions that affect women differently or that are more common in women. The American Society for Bone and Mineral Research (ASBMR) established a working group to evaluate the NASEM report’s implications for women’s musculoskeletal (MSK) health. This perspective summarizes key research gaps identified in the NASEM report, including the lack of sex-specific data, underrepresentation of women in clinical studies, and minimal integration of MSK health with other chronic conditions. The NASEM report underscores the need for more comprehensive study designs that consider hormonal, genetic, and social determinants of health across the lifespan. In addition to osteoporosis, in this perspective, the ASBMR working group highlights emerging but poorly understood evidence of detrimental effects on musculoskeletal biology in non-MSK, chronic diseases that were identified in the NASEM report to disproportionately affect women. To advance the field, we advocate for better diagnostics, increased investment, and stronger representation of women in research studies. Addressing these gaps is critical for improving prevention, care, and outcomes for chronic conditions that uniquely or disproportionately affect women.

Importance Currently, there are no standardized outcome domains or measures in clinical trials for facial aging. Heterogeneity in outcome domains and measurement instruments across clinical trials creates difficulty in directly comparing interventions, determining superior therapies, and developing high-quality meta-analyses. Objective To develop a core outcome set (COS) of essential domains to be reported in clinical trials evaluating the efficacy of interventions for facial aging. Evidence Review PubMed/Medline, Embase, Cochrane Central Register of Controlled Trials, and CINAHL were searched from September 2005 to September 2015. An updated search of the same databases was performed from September 2015 to February 2026. Studies were included if (1) they were randomized clinical trial or controlled clinical trial in design, (2) they assessed the efficacy or safety of an intervention for facial aging, (3) they were published in English, and (4) they involved human participants. Complementary sources, including patient interviews, were used to capture further relevant outcomes. Two rounds of Delphi surveys, followed by consensus meetings, were used to identify outcome domains considered most important by both patient and physician stakeholders. Findings The final COS consists of 6 outcome domains: (1) overall convenience of treatment; (2) time to return to normal work and social activity; (3) overall assessment of focused area of treatment (at the point in time when treatment is expected to provide peak benefit); (4) duration of treatment effect; (5) severity of persistent local or systemic adverse events, including pigmentary change, skin texture change, delayed healing, scarring, and serious adverse events; and (6) patient satisfaction with treatment. Conclusions and Relevance The 6 outcome domains identified through a Delphi consensus are recommended for reporting in future facial aging trials to ensure that outcomes that matter most to patients and clinicians are measured and that results are comparable across interventions.

Gephyrin is a postsynaptic scaffold protein essential for inhibitory neurotransmission. Gephyrin‐immunoglobulin G (IgG) was reported, decades ago, in a single case of paraneoplastic stiff‐person‐like syndrome, but its broader clinical relevance remains unknown. While investigating unclassified synaptic IgGs mimicking amphiphysin‐IgG, we identified gephyrin‐IgG in 3 patients using human protein microarray. Gephyrin specificity was confirmed using confocal tissue‐based immunofluorescence assay, cell‐based assay, and Western blot. The 3 patients, all female, had: encephalitis (2) and myeloneuropathy and breast cancer (1). All had inflammatory cerebrospinal fluid and abnormal magnetic resonance imaging, and improved following immunotherapy. Gephyrin‐IgG is associated with a treatable autoimmune neurological disease, sometimes paraneoplastic. ANN NEUROL 2026

Objective: Characterize pathogenic variants, rates of mosaicism, genetic testing yield, and disease severity among patients with NF2-related schwannomatosis dichotomized by diagnosis before or after the age of 30. Study design: Retrospective analysis. Setting: Tertiary referral center multidisciplinary NF2 clinic from 2021 to 2024. Patients: Patients with NF2-related schwannomatosis. Intervention: Next-generation sequencing. Main outcome measure: Rates of mosaicism, genetic testing rates and yield, and overall disease severity by tumor burden. Results: From 2021 to 2024, there were 32 patients ≥30 years of age and 39 patients diagnosed at younger ages. Patients diagnosed ≥30 years exhibited decreased likelihood of receiving genetic testing (53% vs. 85%; P =0.009) and decreased genetic yield (defined as identification of a pathogenic genetic variant in those undergoing testing; 65% vs. 85%; P =0.20). Both age groups demonstrated similar rates of pathogenic variant type with loss-of-function being the predominant variant detected in 73% vs. 67%, for ≥30 vs. <30 years of age; P =0.90. Those ≥30 years harbored fewer number of average anatomic regions involved by tumor (2.3 vs. 3.4; P <0.001) and decreased total number of tumors (7 vs. 12; P <0.001). Conclusions: Patients diagnosed with NF2-related schwannomatosis at age ≥30 years exhibited reduced disease severity compared with those diagnosed at a younger age despite harboring similar distributions of genetic pathogenic variants inclusive of loss-of-function pathogenic variants. These observations emphasize the importance of considering patient age in addition to genetic testing for diagnostic framing tailored to patients’ biology and clinical context to optimize care in the setting of NF2-related schwannomatosis.

Background Gastro-oesophageal reflux disease (GORD) occurs in most (∼75%) patients with systemic sclerosis (SSc) and significantly impacts quality of life. Current recommendations lack depth and therefore our aim was to produce practical, consensus-based recommendations for refractory SSc-related GORD. Methods An international, multidisciplinary steering board (SB) was assembled (n=19) consisting of clinicians (rheumatologists, gastroenterologists, gastrointestinal surgeons), an expert methodologist and patient representation. After reviewing the latest definitions of GORD and refractory GORD in the published literature, the SB collectively devised a practical definition of SSc refractory-GORD. Initial recommendations were drafted/agreed on by the SB based on review of the existing guidelines, published literature and expert opinion. Two online voting rounds were conducted to determine whether items should be accepted, with >75% and >60% SB agreement required for first and second rounds, respectively. Results There was a good response/completion rate for the initial (74%) and final (84%) voting rounds. The SB agreed on all 36 draft recommendations. The majority (n=34) were approved in the first round. Recommendations were organised according to the following categories: general approach to management (n=5), assessment (n=6), non-pharmacological (n=2) and pharmacological (n=10) management, endoscopic and surgical treatment (n=3), and special circumstances including refractory GORD and SSc-interstitial lung disease (n=3), myositis and SSc connective tissue disease-overlap (n=3) and perilung transplant (n=4). Conclusion The group of experts has drafted extended and practical recommendations for the management of SSc refractory-GORD. The necessity of a structured approach and a patient assessment is highlighted in order to provide a multidisciplinary approach to the tailored choice of the treatment. Our work also has also identified significant unmet needs and has provided a research agenda to advance the field.

ABSTRACT Background Cerebrospinal fluid (CSF) leak after retrosigmoid vestibular schwannoma resection remains a challenging complication. Historically, surgeons reopened the prior retrosigmoid incision for transmastoid repair because the safety of creating a separate postauricular incision was uncertain, with concerns regarding wound breakdown and infection. However, limited data support this practice, and a focused mastoid incision may offer improved access and patient tolerance. This study evaluated wound healing outcomes following transmastoid repair using a new postauricular incision for persistent CSF leak after retrosigmoid surgery in patients without serviceable hearing. Methods We retrospectively reviewed 27 patients who underwent transmastoid repair for persistent postoperative CSF leak after retrosigmoid craniotomy for vestibular schwannoma (2000–2025). Demographics, operative details, timing of leak diagnosis and repair, wound complications, readmissions, antibiotic use, and culture results were analyzed. Results Median age was 48 years (IQR 41–56); 67% were male, and mean BMI was 29.0 kg/m 2 . Mastoid obliteration was performed in 96%, with fat grafting in 93%. A new postauricular incision was used in all cases. Median time to leak diagnosis was 13 days (IQR 4–79), and median time to repair was 2 days (IQR 1–5). One patient (3.7%) developed a superficial wound abscess; no dehiscence or flap necrosis occurred. At median follow‐up of 34 months (IQR 2.9–87.7), all wounds were healed. CSF leak recurred in two patients (7.4%) and three (11.1%) required reoperation. Conclusion A separate postauricular incision for transmastoid CSF leak repair was not associated with increased wound morbidity. Durable wound healing was achieved in all patients, with 93% legal control, supporting this anatomy‐driven approach. Level of Evidence 4

Purpose To evaluate retear rates, clinical outcomes, and complications of a consecutive series of full‐thickness rotator cuff repair cases augmented with an autograft biceps patch. Methods A retrospective review was performed of patients undergoing rotator cuff repair with autograft biceps patch augmentation. Patients underwent either magnetic resonance imaging or ultrasound to evaluate rotator cuff repair integrity at a minimum of 6 months postoperatively. Patient‐reported outcomes including the American Shoulder and Elbow Surgeons Score and Single Assessment Numeric Evaluation score were also collected and evaluated for clinical significance at a minimum of 12 months postoperatively. Analysis of retear rates was performed by comparing observed retear rates to expected retear rates using the modified Rotator Cuff Healing Index score. Results The final cohort included 25 rotator cuff repair cases. Postoperative imaging was obtained by magnetic resonance imaging in 22 patients at a mean of 9 months postoperatively (range, 6.0‐15.3 months) and ultrasound in 3 patients at a mean of 30.4 months (range, 28.8‐32.2 months). The expected retear rate using the modified Rotator Cuff Healing Index score was 21.5% for the entire cohort. There was 1 retear, resulting in an actual retear rate of 4% at an average of 23.5‐month follow‐up ( P = .0196). The average Single Assessment Numeric Evaluation score was 93 (standard deviation 9), and the average American Shoulder and Elbow Surgeons Score was 96 (standard deviation 6.3) at an average of 23.5‐month follow‐up (range 14‐32). Patient acceptable symptomatic state was achieved by 96% of the cohort for the American Shoulder and Elbow Surgeons Score and 88% of the cohort for the Single Assessment Numeric Evaluation score. There were no cases of reoperation or complications. Conclusions In this consecutive series, the biceps autograft “smash” patch for rotator cuff augmentation resulted in a low rate of retears, favorable patient‐reported outcomes, and no complications. This augmentation option has the potential to be safe and effective for improving rotator cuff repair healing rates. Level of Evidence Level IV, retrospective case series.

This case series describes multicenter experience with interleukin 6 (IL-6) receptor blockers used during attacks in aquaporin 4–immunoglobulin G–positive neuromyelitis optica spectrum disorder (AQP4+NMOSD) and myelin oligodendrocyte glycoprotein antibody–associated disease (MOGAD).

ABSTRACT Background Readmission is considered as a surgical quality indicator. More data regarding predictors of readmission and outcomes after surgery for colorectal liver metastasis are needed. Using a propensity score match to create a 1:2 match of cases:controls for 90‐day. Readmission, the matching variables used for balance included age, tumor size, estimated blood loss, and type of resection (minor or major). T‐tests were used for continuous measures, Fisher's exact test was used for categorical data, and the Kaplan–Meier method was used to estimate survival. p < 0.05 was considered significant. Methods Retrospectively examined 935 patients with CLM from 2000 to 2018. Using a propensity score match to create a 1:2 match of cases:controls for 90‐day. Readmission, the matching variables used for balance included age, tumor size, estimated blood loss, and type of resection (minor or major). T‐tests were used for continuous measures, Fisher's exact test was used for categorical data, and the Kaplan–Meier method was used to estimate survival. p < 0.05 was considered significant. Results 935 patients were included in the initial sample with 896 eligible for inclusion in the propensity matching. The average age of the population was 59% and 59% male. Overall readmission rate was 8.0%. Median time to readmission was 14 days. In the propensity score matched sample, readmitted patients had higher rates of organ space infection (28% vs 2% and p < 0.0001), bile leak (26% vs 1% and p < 0.0001), and liver failure (9% vs 2% and p = 0.042). There was no difference in LOS (7 days versus six days and p = 0.40), overall survival (median 39.7 vs 41.0 months and p = 0.79), or rate of adjuvant therapy (68% for both and p > 0.99). Conclusion Patients readmitted for intermediate and late complications after surgery for CLM can recover and receive adjuvant therapy with no adverse effect on overall survival. Organ space infection, bile leak, and liver failure are highly associated with readmission.

Background: Achilles tendon ruptures are among the most debilitating injuries in professional basketball, often leading to prolonged absence and long-term performance decline. While calf strains are common among National Basketball Association (NBA) athletes, their role as a precursor to Achilles rupture remains poorly understood. Hypothesis: A previous calf strain would be associated with increased odds of Achilles tendon rupture in NBA players and that affected players would experience significant post-injury performance declines. Study Design: Case-cohort study; Level of evidence, 3. Methods: Publicly available data on NBA players from 1958 to 2024 were analyzed, with the data search conducted in June 2025. Players with Achilles ruptures (n = 60) were compared with players with calf strains who did not sustain a rupture (n = 258). Logistic regression adjusted for age, body mass index, position, starter status, and workload. Pre- and postinjury performance was evaluated over 2 seasons using paired t tests. Descriptive analyses characterized injury laterality, game context, quarter, shoe type, and draft position. Video review assessed injury mechanisms. Results: Previous calf strain was associated with increased odds of Achilles rupture (odds ratio, 2.49; 95% CI, 1.16-5.22; P = .02). Among those with both injuries, 85.7% occurred on the same side, with a mean interval of 1.9 years. Of all players, a total of 75% returned to play. Postinjury declines were observed in player efficiency rating (−2.46), win shares (−3.23), games played (−260.3), and minutes per game (−5.19) (all P < .001). Return was more likely in younger players and those on multiyear contracts. Video analysis revealed a consistent “false step” mechanism in 95% of cases with footage. Most Achilles tendon ruptures occurred during in-game activity, while shoe type was evaluated descriptively and was not associated with player position or preinjury workload. Conclusion: Our study showed that previous calf strain is associated with an increased risk of Achilles tendon rupture in NBA players and may serve as a clinically identifiable risk marker. Rupture leads to substantial and sustained performance decline, even among those who return. Targeted rehabilitation and movement retraining may help mitigate progression to rupture in high-risk athletes.