Social, Emotional, and Behavioral Functioning in Adolescents with Klinefelter Syndrome.

Objective: Klinefelter syndrome (KS) is a common genetic condition in males associated with an extra X chromosome (i.e., 47,XXY).

Voltage-dependent anion channel 1 oligomerization regulates PANoptosis in retinal ischemia-reperfusion injury.

Ischemia-reperfusion injury is a common pathophysiological mechanism in retinal degeneration. PANoptosis is a newly defined integral form of regulated cell death that combines the key features of pyroptosis, apoptosis, and necroptosis. Oligomerization of mitochondrial voltage-dependent anion channel 1 is an important pathological event in regulating cell death in retinal ischemia-reperfusion injury.

Success of Bone Ossification After Posterior Vault Distraction Osteogenesis in Patients With Craniosynostosis.

Background: Posterior vault distraction osteogenesis (PVDO) is an effective treatment for multisuture and syndromic craniosynostosis. It remains unclear how well the calvarium ossifies after PVDO, especially in older patients when they have plateaued in their cranial growth phase. The purpose of this study is to report outcomes associated with PVDO across a wide range of ages at our institution.

The association between physician sex and patient outcomes: a systematic review and meta-analysis.

Background: Some prior studies have found that patients treated by female physicians may experience better outcomes, as well as lower healthcare costs than those treated by male physicians. Physician-patient sex concordance may also contribute to better patient outcomes. However, other studies have not identified a significant difference.

Utilization of Telemedicine for Patients Receiving In-center Hemodialysis in the United States.

Background: In March 2020, responding to the COVID-19 pandemic, federal emergency waivers in the United States enabled kidney care providers (nephrologists and advanced practice providers) to substitute face-to-face in-center hemodialysis visits with telemedicine encounters. We examined whether the frequency of kidney care provider visits and hospitalizations were associated with telemedicine use in hemodialysis care.

Methods: We used Medicare claims to identify US patients receiving in-center hemodialysis during the first 16 months of the COVID-19 pandemic.

Responsiveness to transcutaneous spinal stimulation for upper extremity recovery following spinal cord injury: A case series exploration of midsagittal tissue bridges.

Context: Transcutaneous spinal stimulation (TSS), applied to the cervical spine, is able to improve voluntary upper extremity strength and function in individuals with cervical spinal cord injury (SCI). While most respond and improve in the presence of TSS, others do not respond as favorably. Midsagittal tissue bridges, adjacent to the lesion, can be observed and measured using T-weighted magnetic resonance imaging (MRI), and both ventral and dorsal tissue bridges are associated with recovery following SCI.

Distinct myeloid-derived suppressor cell populations in human glioblastoma.

The role of glioma-associated myeloid cells in tumor growth and immune evasion remains poorly understood. We performed single-cell RNA sequencing of immune and tumor cells from 33 gliomas, identifying two distinct myeloid-derived suppressor cell (MDSC) populations in isocitrate dehydrogenase-wild-type (IDT-WT) glioblastoma: an early progenitor MDSC (E-MDSC) population with up-regulation of metabolic and hypoxia pathways and a monocytic MDSC (M-MDSC) population. Spatial transcriptomics demonstrated that E-MDSCs geographically colocalize with metabolic stem-like tumor cells in the pseudopalisading region.

Protein-Based Degraders: From Chemical Biology Tools to Neo-Therapeutics.

The nascent field of targeted protein degradation (TPD) could revolutionize biomedicine due to the ability of degrader molecules to selectively modulate disease-relevant proteins. A key limitation to the broad application of TPD is its dependence on small-molecule ligands to target proteins of interest. This leaves unstructured proteins or those lacking defined cavities for small-molecule binding out of the scope of many TPD technologies.

Risk of cardiovascular disease following degarelix versus gonadotropin-releasing hormone agonists in patients with prostate cancer: a systematic review and meta-analysis.

Background: Prostate cancer treatment involves hormonal therapies that may carry cardiovascular risks, particularly for long-term use. Gonadotropin-releasing hormone (GnRH) antagonists, such as degarelix, may offer advantages over agonists, but comprehensive comparative cardiovascular outcomes are not well established. This study aimed to systematically review and analyze the cardiovascular safety profiles of degarelix compared to those of traditional GnRH agonists, providing critical insights for optimizing treatment strategies.

Reconstructive techniques for chest and breast deformities in Poland syndrome: An up-to-date systematic review.

Background: Poland syndrome (PS) is a congenital abnormality defined as aplasia or hypoplasia of the unilateral pectoralis muscle and breast tissue that may be accompanied by limb or thoracic deformities. Reconstruction of deformities associated with PS is challenging owing to the spectrum of differences. We aimed to evaluate the trends in surgical management of chest and breast anatomical anomalies associated with PS.

Opposing roles of p38α-mediated phosphorylation and PRMT1-mediated arginine methylation in driving TDP-43 proteinopathy.

Amyotrophic lateral sclerosis (ALS) is a devastating neurodegenerative disorder typically characterized by insoluble inclusions of hyperphosphorylated TDP-43. The mechanisms underlying toxic TDP-43 accumulation are not understood. Persistent activation of p38 mitogen-activated protein kinase (MAPK) is implicated in ALS.

Sleep and breathing in children with Joubert syndrome and a review of other rare congenital hindbrain malformations.

Background: Joubert syndrome (JS) is an autosomal recessive disorder with a distinctive mid-hindbrain malformation known as the "molar tooth sign" which involves the breathing control center and its connections with other structures. Literature has reported significant respiratory abnormalities which included hyperpnea interspersed with apneic episodes during wakefulness. Larger-scale studies looking at polysomnographic findings or subjective reports of sleep problems in this population have not yet been published.

Osseointegration and fixation opportunities of sacroiliac instrumentation: a preclinical evaluation in a large animal model.

Background: Implant fixation is often the cornerstone of musculoskeletal surgical procedures performed to provide bony fixation and/or fusion. The aim of this study was to evaluate how different design features and manufacturing methods influence implant osseointegration and mechanical properties associated with fixation in a standardized model in cancellous bone of adult sheep.

Methods: We evaluated the performance of three titanium alloy implants: (A) iFuse-TORQ implant; (B) Fenestrated Sacroiliac Device; and (C) Standard Cancellous Bone Screw in the cancellous bone of the distal femur and proximal tibia in 8 sheep.

Resting-state fMRI activation is associated with parent-reported phenotypic features of autism in early adolescence.

Introduction: Autism Spectrum Disorder (ASD) is characterized by deficits in social cognition, self-referential processing, and restricted repetitive behaviors. Despite the established clinical symptoms and neurofunctional alterations in ASD, definitive biomarkers for ASD features during neurodevelopment remain unknown. In this study, we aimed to explore if activation in brain regions of the default mode network (DMN), specifically the medial prefrontal cortex (MPC), posterior cingulate cortex (PCC), superior temporal sulcus (STS), inferior frontal gyrus (IFG), angular gyrus (AG), and the temporoparietal junction (TPJ), during resting-state functional magnetic resonance imaging (rs-fMRI) is associated with possible phenotypic features of autism (PPFA) in a large, diverse youth cohort.

Prognostic impact of expression of CD2, CD25, and/or CD30 in/on mast cells in systemic mastocytosis: a registry study of the European Competence Network on Mastocytosis.

Expression of CD2, CD25 and/or CD30 in extracutaneous mast cells (MC) is a minor diagnostic criterion for systemic mastocytosis (SM) in the classification of the World Health Organization and International Consensus Classification. So far, it remains unknown whether expression of these antigens on MC is of prognostic significance in SM. We performed a retrospective multi-center study of patients with SM using the data set of the registry of the European Competence Network on Mastocytosis, including 5034 patients with various MC disorders.

Dynamically reconfigurable acoustofluidic metasurface for subwavelength particle manipulation and assembly.

Particle manipulation plays a pivotal role in scientific and technological domains such as materials science, physics, and the life sciences. Here, we present a dynamically reconfigurable acoustofluidic metasurface that enables precise trapping and positioning of microscale particles in fluidic environments. By harnessing acoustic-structure interaction in a passive membrane resonator array, we generate localized standing acoustic waves that can be reconfigured in real-time.

Psychometric Evaluation of the Scleroderma Skin Questionnaire: A Novel Patient Reported Outcome for Skin Disease in Patients with Systemic Sclerosis.

Objective: To evaluate the psychometric properties of the Scleroderma Skin Questionnaire (SSQ), a novel patient-reported outcome (PRO) to assess systemic sclerosis (SSc) related skin symptoms.

Methods: The SSQ was administered to 799 adults (mean age 52.7; 82% female) enrolled in the SSc Collaborative National Quality and Efficacy Registry (CONQUER).

Evaluation of the Reliability of ChatGPT to Provide Guidance on Recombinant Zoster Vaccination for Patients With Rheumatic and Musculoskeletal Diseases.

Introduction: Large language models (LLMs) such as ChatGPT can potentially transform the delivery of health information. This study aims to evaluate the accuracy and completeness of ChatGPT in responding to questions on recombinant zoster vaccination (RZV) in patients with rheumatic and musculoskeletal diseases.

Methods: A cross-sectional study was conducted using 20 prompts based on information from the Centers for Disease Control and Prevention (CDC), the Advisory Committee on Immunization Practices (ACIP), and the American College of Rheumatology (ACR).

Microsurgery in Motion: An Objective Assessment of Microsurgical Skill and Efficiency.

Background:  High levels of precision, as well as controlled, efficient motions, are important components of microsurgical technique and success. An accurate and objective means of skill assessment is lacking in resident microsurgical education. Here we employ three-dimensional, real-time motion-tracking technology to analyze hand and instrument motion during microsurgical anastomoses.

The moderating effect of recent positive and negative life events on the impact of early life stress on mental wellbeing and distress.

Early life stress (ELS) significantly influences mental health in later stages of life. Yet it is unclear whether recent life events lessen or intensify the effects of ELS on present wellbeing and distress. We addressed this question in 1064 healthy community adults with a normative range of wellbeing and distress.

Direct evidence of fetal responses to noxious stimulations: A systematic review of physiological and behavioral reactions.

Fetal pain is usually debated using data extrapolated from physiology and anatomy; whereas direct observation of fetal pain reactions is only marginally used. We present the first systematic review to carefully analyse this direct evidence. Our objective was to summarize the scientific literature based on the direct observation of fetal responses to noxious stimulation.

Survival with Trastuzumab Emtansine in Residual HER2-Positive Breast Cancer.

Background: Patients with human epidermal growth factor receptor 2 (HER2)-positive early breast cancer with residual invasive disease after neoadjuvant systemic therapy have a high risk of recurrence and death. The primary analysis of KATHERINE, a phase 3, open-label trial, showed that the risk of invasive breast cancer or death was 50% lower with adjuvant trastuzumab emtansine (T-DM1) than with trastuzumab alone.

Methods: We randomly assigned patients with HER2-positive early breast cancer with residual invasive disease in the breast or axilla after neoadjuvant systemic treatment with taxane-based chemotherapy and trastuzumab to receive T-DM1 or trastuzumab for 14 cycles.