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Esophageal schwannoma is a rare diagnosis and historically has been a tumor of middle-aged females. We report a case of a 22-year-old male presenting initially with dyspnea secondary to tracheal compression from an 8 × 6 × 3.0 cm esophageal schwannoma. The tumor was surgically resected, and diagnosis was confirmed with immunohistochemical and pathological studies. We report the youngest case of esophageal schwannoma in an otherwise healthy individual.

Charlotte Sumner and colleagues report that mutations in the ankyrin repeat region of TRPV4 cause Charcot-Marie-Tooth disease type 2C. Their functional studies indicate that the mutations result in increased channel activity. Charcot-Marie-Tooth disease type 2C (CMT2C) is an autosomal dominant neuropathy characterized by limb, diaphragm and laryngeal muscle weakness. Two unrelated families with CMT2C showed significant linkage to chromosome 12q24.11. We sequenced all genes in this region and identified two heterozygous missense mutations in the TRPV4 gene, C805T and G806A, resulting in the amino acid substitutions R269C and R269H. TRPV4 is a well-known member of the TRP superfamily of cation channels. In TRPV4-transfected cells, the CMT2C mutations caused marked cellular toxicity and increased constitutive and activated channel currents. Mutations in TRPV4 were previously associated with skeletal dysplasias. Our findings indicate that TRPV4 mutations can also cause a degenerative disorder of the peripheral nerves. The CMT2C-associated mutations lie in a distinct region of the TRPV4 ankyrin repeats, suggesting that this phenotypic variability may be due to differential effects on regulatory protein-protein interactions.

Dysphagia is more common in conditions such as stroke, Parkinson's disease, and head and neck cancer. This can lead to pneumonia, choking, malnutrition, and dehydration. Currently, the diagnostic gold standard uses radiologic imaging, the videofluoroscopic swallow study (VFSS); however, it is expensive and necessitates specialized facilities and trained personnel. Although several devices attempt to address the limitations, none offer the clinical‐grade quality and accuracy of the VFSS. Here, this study reports a wireless multimodal wearable system with machine learning for automatic, accurate clinical assessment of swallowing behavior and diagnosis of silent aspirations from dysphagia patients. The device includes a kirigami‐structured electrode that suppresses changes in skin contact impedance caused by movements and a microphone with a gel layer that effectively blocks external noise for measuring high‐quality electromyograms and swallowing sounds. The deep learning algorithm offers the classification of swallowing patterns while diagnosing silent aspirations, with an accuracy of 89.47%. The demonstration with post‐stroke patients captures the system's significance in measuring multiple physiological signals in real‐time for detecting swallowing disorders, validated by comparing them with the VFSS. The multimodal electronics can ensure a promising future for dysphagia healthcare and rehabilitation therapy, providing an accurate, non‐invasive alternative for monitoring swallowing and aspiration events. This article reports a wireless multimodal wearable system with machine learning for automatic, accurate clinical assessment of swallowing behavior and diagnosis of silent aspirations from dysphagia patients.

Regulatory frameworks ensure the trustworthiness of artificial intelligence in medicine (AI-MD). Yet, developers’ perspectives on these frameworks remain underexplored. We surveyed 122 AI-MD developers online, examining their awareness, familiarity, and adoption of regulatory frameworks, alongside their views on ethical principles and stakeholder responsibilities. About half (57.4%, n  = 70) were aware of any frameworks while reporting moderate familiarity. A third (33.6%, n  = 41) indicated that their organizations had formally adopted such frameworks. Developers identified robustness as the most critical ethical principle and viewed themselves as primarily responsible for implementing regulatory standards. Independent t -tests indicated marginal and significant differences in awareness ( p  = 0.051) and familiarity ( p  < 0.001), respectively, between developers from adopting and non-adopting organizations. Senior and junior developers differed significantly on both measures ( p  < 0.05). These findings highlight developers’ strong sense of professional accountability but also reveal limited familiarity and adoption, underscoring the need for greater education and organizational support to foster responsible AI-MD practices.

Spheroidal cancer cell cultures have been used to enrich cancer stem cells (CSC), which are thought to contribute to important clinical features of tumors. This study aimed to map the regulatory networks driven by circular RNAs (circRNAs) in CSC-enriched colorectal cancer (CRC) spheroid cells. The spheroid cells established from two CRC cell lines acquired stemness properties in pluripotency gene expression and multi-lineage differentiation capacity. Genome-wide sequencing identified 1503 and 636 circRNAs specific to the CRC parental and spheroid cells, respectively. In the CRC spheroids, algorithmic analyses unveiled a core network of mRNAs involved in modulating stemness-associated signaling pathways, driven by a circRNA–microRNA (miRNA)–mRNA axis. The two major circRNAs, hsa_circ_0066631 and hsa_circ_0082096, in this network were significantly up-regulated in expression levels in the spheroid cells. The two circRNAs were predicted to target and were experimentally shown to down-regulate miR-140-3p, miR-224, miR-382, miR-548c-3p and miR-579, confirming circRNA sponging of the targeted miRNAs. Furthermore, the affected miRNAs were demonstrated to inhibit degradation of six mRNA targets, viz. ACVR1C/ALK7, FZD3, IL6ST/GP130, SKIL/SNON, SMAD2 and WNT5, in the CRC spheroid cells. These mRNAs encode proteins that are reported to variously regulate the GP130/Stat, Activin/Nodal, TGF-β/SMAD or Wnt/β-catenin signaling pathways in controlling various aspects of CSC stemness. Using the CRC spheroid cell model, the novel circRNA–miRNA–mRNA axis mapped in this work forms the foundation for the elucidation of the molecular mechanisms of the complex cellular and biochemical processes that determine CSC stemness properties of cancer cells, and possibly for designing therapeutic strategies for CRC treatment by targeting CSC.

ObjectiveTo evaluate TIMP in preterm very low birth weight (VLBW) infants, analyze risk factors, for atypical TIMP (aTIMP) scores, and explore TIMP’s predictive relationship with Bayley-III at 2 years.MethodA prospective study of 288 VLBW infants, with TIMP assessment between 34 weeks postmenstrual age and 16 weeks age, corrected for prematurity.ResultaTIMP scores were observed in 58/288(20%) infants, whose mean birth weight (BW) and gestational age were 1122 ± 257 g and 29.2 ± 2.12 weeks respectively. Risk factors included BW < 750 g (OR 4.8, 95% CI 1.3–17.7) and 750–1000 g (OR 2.9, 95% CI 1.2–6.9), presence of necrotizing enterocolitis ≥ stage 2; or focal intestinal perforation (OR 4.6, 95% CI 1.4–14.4), periventricular leukomalacia (OR 22.4,95% CI 2.0–246.2), and need for intensive resuscitation at birth (OR 2.7, 95% CI 1.3–5.5).aTIMP scores correlated with Bayley-III Score <85 in motor and cognitive domains with high specificity (80–82%) and negative predictive value (85–94%).ConclusionIdentification of the risk factors for aTIMP scores will enable targeted intervention to optimize resources and outcomes in VLBW infants.

Approximately 10 years after vaccination with the recombinant zoster vaccine (RZV), an interim analysis of this follow-up study of the ZOE-50/70 trials demonstrated that efficacy against herpes zoster remained high. Moreover, the safety profile remained clinically acceptable, suggesting that the clinical benefit of the RZV in ≥50-year-olds is sustained up to 10 years.

Background The World Health Organization (WHO) Tool for Situational Analysis to Assess Emergency and Essential Surgical Care (hereafter called the WHO Tool) has been used in more than 25 countries and is the largest effort to assess surgical care in the world. However, it has not yet been independently validated. Test–retest reliability is one way to validate the degree to which tests instruments are free from random error. The aim of the present field study was to determine the test–retest reliability of the WHO Tool. Methods The WHO Tool was mailed to 10 district hospitals in Ghana. Written instructions were provided along with a letter from the Ghana Health Services requesting the hospital administrator to complete the survey tool. After ensuring delivery and completion of the forms, the study team readministered the WHO Tool at the time of an on-site visit less than 1 month later. The results of the two tests were compared to calculate kappa statistics for each of the 152 questions in the WHO Tool. The kappa statistic is a statistical measure of the degree of agreement above what would be expected based on chance alone. Results Ten hospitals were surveyed twice over a short interval (i.e., less than 1 month). Weighted and unweighted kappa statistics were calculated for 152 questions. The median unweighted kappa for the entire survey was 0.43 (interquartile range 0–0.84). The infrastructure section (24 questions) had a median kappa of 0.81; the human resources section (13 questions) had a median kappa of 0.77; the surgical procedures section (67 questions) had a median kappa of 0.00; and the emergency surgical equipment section (48 questions) had a median kappa of 0.81. Conclusions Hospital capacity survey questions related to infrastructure characteristics had high reliability. However, questions related to process of care had poor reliability and may benefit from supplemental data gathered by direct observation. Limitations to the study include the small sample size: 10 district hospitals in a single country. Consistent and high correlations calculated from the field testing within the present analysis suggest that the WHO Tool for Situational Analysis is a reliable tool where it measures structure and setting, but it should be revised for measuring process of care.