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As anti-diversity, equity, and inclusion (DEI) legislation continues to gain traction, it is essential for those in science, technology, engineering, mathematics, and medicine (STEMM) to grasp its implications and explore ways to preserve inclusive environments. Anti-DEI measures can result in the dismantling of support structures, such as DEI centers and peer counseling groups, leading to a decline in vital support programs on college campuses and beyond. In this Voices article, we examine these emerging challenges and underscore the critical need to reframe DEI as a tool for fostering inclusion and benefits all individuals.

Abstract With the increasing opportunities for medical management of von Hippel–Lindau (VHL)-related lesions, fundamental questions are arising regarding the possibilities of the FDA-approved medication (Belzutifan) to delay the progression of other non-VHL-related tumors that are not requiring urgent surgical interventions. We present a follow-up report on a VHL patient, with a co-morbid history of pulmonary mucosa-associated lymphoid tissue lymphoma, who was initially described in the clinical scientific literature ~10 years ago. This patient’s case highlights some of the challenges for some VHL patients with comorbid non-VHL-related tumors and potential opportunities for targeted support.

BACKGROUND AND OBJECTIVE There is limited research on screening for social determinants of health (SDOH) in hospitalized pediatric patients. In this article, we describe patient characteristics related to SDOH screening in the hospital setting and examine relationships with acute care metrics. METHODS This is a retrospective cohort study. From July 2020 to October 2021, a 14-question SDOH screener was administered to families of patients admitted or transferred to the hospital medicine service. Information was collected regarding screen results, demographics, patient comorbidities, patient complexity, and acute care metrics. Unadjusted and multivariable analyses were performed using generalized estimation equation logistic regression models. RESULTS Families in 2454 (65%) patient encounters completed SDOH screening, with ≥1 need identified in 662 (27%) encounters. Families with significant odds for positive screening results in a multivariable analysis included primary language other than English (odds ratio [OR] 4.269, confidence interval [CI] 1.731–10.533) or Spanish (OR 1.419, CI 1.050–1.918), families identifying as “Black” (OR 1.675, CI 1.237–2.266) or Hispanic (OR 1.347, CI 1.057–1.717) or having a child on the complex care registry (OR 1.466, CI 1.120–1.918). A positive screening result was not associated with increased length of stay, readmission, or 2-year emergency department or acute care utilization. CONCLUSIONS In hospitalized pediatric patients, populations at the greatest odds for positive needs include families with primary languages other than English or Spanish, those that identified as certain races or ethnicities, or those having a child on the complex care registry. A positive SDOH screening result in this study was not associated with an increase in length of stay, readmission, or acute care utilization.

Abstract Context Conventional therapy for hypoparathyroidism aims to alleviate symptoms of hypocalcemia but does not address insufficient parathyroid hormone (PTH) levels. Objective Assess the long-term efficacy and safety of TransCon PTH (palopegteriparatide) for hypoparathyroidism. Design Phase 3 trial with a 26-week, double-blind, placebo-controlled period followed by a 156-week, open-label extension (OLE). Setting Twenty-one sites across North America and Europe. Participants A total of 82 adults with hypoparathyroidism were randomized and received study drug and 78 completed week 52. Intervention(s) All OLE participants received TransCon PTH administered once daily. Main Outcome Measure(s) Multicomponent efficacy endpoint: proportion of participants at week 52 who achieved normal serum calcium (8.3-10.6 mg/dL) and independence from conventional therapy (≤600 mg/day of elemental calcium and no active vitamin D). Other efficacy endpoints included patient-reported outcomes and bone mineral density. Safety was assessed by 24-hour urine calcium and treatment-emergent adverse events. Results At week 52, 81% (63/78) met the multicomponent efficacy endpoint, 95% (74/78) achieved independence from conventional therapy, and none required active vitamin D. Patient-reported outcomes showed sustained improvements in quality of life, physical functioning, and well-being. Mean bone mineral density Z-scores decreased toward age- and sex-matched norms from baseline to week 52. Mean (SD) 24-hour urine calcium excretion decreased from 376 (168) mg/day at baseline to 195 (114) mg/day at week 52. Most treatment-emergent adverse events were mild or moderate and none led to trial discontinuation during the OLE. Conclusion At week 52 of the PaTHway trial, TransCon PTH showed sustained efficacy, safety, and tolerability in adults with hypoparathyroidism.

Abstract Objective Wearable nonelectroencephalographic biosignal recordings captured from the wrist offer enormous potential for seizure monitoring. However, signal quality remains a challenging factor affecting data reliability. Models trained for seizure detection depend on the quality of recordings in peri‐ictal periods in performing a feature‐based separation of ictal periods from interictal periods. Thus, this study aims to investigate the effect of epileptic seizures on signal quality, ensuring accurate and reliable monitoring. Methods This study assesses the signal quality of wearable data during peri‐ictal phases of generalized tonic–clonic and focal to bilateral tonic–clonic seizures (TCS), focal motor seizures (FMS), and focal nonmotor seizures (FNMS). We evaluated accelerometer (ACC) activity and the signal quality of electrodermal activity (EDA) and blood volume pulse (BVP) data. Additionally, we analyzed the influence of peri‐ictal movements as assessed by ACC (ACC activity) on signal quality and examined intraictal subphases of focal to bilateral TCS. Results We analyzed 386 seizures from 111 individuals in three international epilepsy monitoring units. BVP signal quality and ACC activity levels differed between all seizure types. We found the largest decrease in BVP signal quality and increase in ACC activity when comparing the ictal phase to the pre‐ and postictal phases for TCS. Additionally, ACC activity was strongly negatively correlated with BVP signal quality for TCS and FMS, and weakly for FNMS. Intraictal analysis revealed that tonic and clonic subphases have the lowest BVP signal quality and the highest ACC activity. Significance Motor elements of seizures significantly impair BVP signal quality, but do not have significant effect on EDA signal quality, as assessed by wrist‐worn wearables. The results underscore the importance of signal quality assessment methods and careful selection of robust modalities to ensure reliable seizure detection. Future research is needed to explain whether seizure detection models' decisions are based on signal responses induced by physiological processes as opposed to artifacts.

Endotoxemia is closely related to many diseases. As the largest endotoxin reservoir in the human body, the gut microbiota should be a key target for alleviating endotoxemia. The intestinal microbiota is believed to cause endotoxemia directly or indirectly by modifying the intestinal barrier function through dysbiosis, changing intestinal mucosal permeability and bacterial translocation. Diet is known to be the main environmental factor affecting the intestinal microbiota, and different diets and food components have a large impact on the gut microbiota. The Mediterranean diet, which received much attention in recent years, is believed to be able to regulate the gut microbiota, thereby maintaining the function of the intestinal barrier and alleviating endotoxemia. In this review, we focus on the relationship between the gut microbiota and endotoxemia, and how the Mediterranean dietary (MD) pattern can interfere with endotoxemia through the gut microbiota.

AbstractRippling muscle disease (RMD) is a rare disorder of muscle hyperexcitability. It is characterized by rippling wave‐like muscle contractions induced by mechanical stretch or voluntary contraction followed by sudden stretch, painful muscle stiffness, percussion‐induced rapid muscle contraction (PIRC), and percussion‐induced muscle mounding (PIMM). RMD can be hereditary (hRMD) or immune‐mediated (iRMD). hRMD is caused by pathogenic variants in caveolin‐3 (CAV3) or caveolae‐associated protein 1/ polymerase I and transcript release factor (CAVIN1/PTRF). CAV3 pathogenic variants are autosomal dominant or less frequently recessive while CAVIN1/PTRF pathogenic variants are autosomal recessive. CAV3‐RMD manifests with a wide spectrum of clinical phenotypes, ranging from asymptomatic creatine kinase elevation to severe muscle weakness. Overlapping phenotypes are common. Muscle caveolin‐3 immunoreactivity is often absent or diffusely reduced in CAV3‐RMD. CAVIN1/PTRF‐RMD is characterized by congenital generalized lipodystrophy (CGL, type 4) and often accompanied by several extra‐skeletal muscle manifestations. Muscle cavin‐1/PTRF immunoreactivity is absent or reduced while caveolin‐3 immunoreactivity is reduced, often in a patchy way, in CAVIN1/PTRF‐RMD. iRMD is often accompanied by other autoimmune disorders, including myasthenia gravis. Anti‐cavin‐4 antibodies are the serological marker while the mosaic expression of caveolin‐3 and cavin‐4 is the pathological feature of iRMD. Most patients with iRMD respond to immunotherapy. Rippling, PIRC, and PIMM are usually electrically silent. Different pathogenic mechanisms have been postulated to explain the disease mechanisms. In this article, we review the spectrum of hRMD and iRMD, including clinical phenotypes, electrophysiological characteristics, myopathological findings, and pathogenesis.

Abstract Single‐cell RNA sequencing and spatial transcriptomics enable unprecedented insight into cellular and molecular pathways implicated in human skin aging and regeneration. Senescent cells are individual cells that are irreversibly cell cycle arrested and can accumulate across the human lifespan due to cell‐intrinsic and ‐extrinsic stressors. With an atlas of single‐cell RNA‐sequencing and spatial transcriptomics, epidermal and dermal senescence and its effects were investigated, with a focus on melanocytes and fibroblasts. Photoaging due to ultraviolet light exposure was associated with higher burdens of senescent cells, a sign of biological aging, compared to chronological aging. A skin‐specific cellular senescence gene set, termed SenSkin™, was curated and confirmed to be elevated in the context of photoaging, chronological aging, and non‐replicating CDKN1A + (p21) cells. In the epidermis, senescent melanocytes were associated with elevated melanin synthesis, suggesting haphazard pigmentation, while in the dermis, senescent reticular dermal fibroblasts were associated with decreased collagen and elastic fiber synthesis. Spatial analysis revealed the tendency for senescent cells to cluster, particularly in photoaged skin. This work proposes a strategy for characterizing age‐related skin dysfunction through the lens of cellular senescence and suggests a role for senescent epidermal cells (i.e., melanocytes) and senescent dermal cells (i.e., reticular dermal fibroblasts) in age‐related skin sequelae.

AbstractBackgroundCyclic vomiting syndrome (CVS), a disorder of gut–brain interaction, presents with recurrent episodes of severe nausea and vomiting. It is often associated with missed or delayed diagnoses and substantial healthcare utilization. Despite historical recognition dating back to the 19th century, epidemiological insights remain limited, with research predominantly originating from specific regions, such as the US. CVS prevalence and incidence rates vary widely and are hindered by inconsistent methodologies and disease recognition.PurposeThis review aims to provide a comprehensive overview of CVS prevalence and incidence rates. It reviews the currently available data and identifies gaps in knowledge. Understanding the global epidemiology of CVS, increasing awareness of the disease, and fostering global collaboration are crucial. Other pertinent issues include disparities in outcomes, particularly among African Americans and Hispanics in the United States, underscoring the need to understand the social determinants of health that drive disease outcomes. This understanding can inform targeted interventions to address these barriers and achieve equitable healthcare both in the United States and globally.