Reduced gray matter volume in limbic and cortical areas is associated with anxiety and depression in alcohol use disorder patients.

Alcohol use disorder (AUD) is a multifactorial disease closely related to neurodevelopment and environmental factors that influence behavior. This study explored the relationships between brain volume and behavior from an Exploratory Structural Equation Modeling (ESEM) based on the Research Domain Criteria. High-resolution magnetic resonance imaging scans were acquired from recent patients with AUD (n = 50) and healthy controls (HC=50).

Adaptation optimizes sensory encoding for future stimuli.

Sensory neurons continually adapt their response characteristics according to recent stimulus history. However, it is unclear how such a reactive process can benefit the organism. Here, we test the hypothesis that adaptation actually acts proactively in the sense that it optimally adjusts sensory encoding for future stimuli.

Neurodevelopmental and Mental Health Outcomes in a National Clinical Sample of Youth With Sex Chromosome Trisomies Compared With Matched Controls.

Objective: To compare the prevalence of neurodevelopmental and mental health diagnoses in a national sample of youth with sex chromosome trisomies (SCTs) with matched controls.

Methods: Patients in PEDSnet and a diagnosis code mapping to 47,XXY/Klinefelter syndrome (n = 1171), 47,XYY/Double Y syndrome (n = 243), or 47,XXX/Trisomy X syndrome (n = 262) were matched with controls using propensity scores. Generalized estimating equations computed odds ratios (OR) with 95% confidence intervals (CI) for the prevalence of diagnoses within the neurodevelopmental and mental health composites, psychotropic medication prescriptions, and encounters with behavioral health and therapy providers.

Control of striatal circuit development by the chromatin regulator .

The pathophysiology of neurodevelopmental disorders involves vulnerable neural populations, including striatal circuitry, and convergent molecular nodes, including chromatin regulation and synapse function. Despite this, how epigenetic regulation regulates striatal development is understudied. Recurrent de novo mutations in are associated with intellectual disability and autism.

Programmed shape transformations in cell-laden granular composites.

Tissues form during development through mechanical compaction of their extracellular matrix (ECM) and shape morphing, processes that result in complex-shaped structures that contribute to tissue function. While observed in vivo, control over these processes in vitro to understand both tissue development and guide tissue formation has remained challenging. Here, we use combinations of mesenchymal stromal cell spheroids and hydrogel microparticles (microgels) with varied hydrolytic stability to fabricate programmable and dynamic granular composites that control compaction and tissue formation over time.

Maralixibat Reduces Serum Bile Acids and Improves Cholestatic Pruritus in Adolescents With Alagille Syndrome.

Background: Alagille syndrome (ALGS) is a multisystem cholestatic disorder. Maralixibat is approved for the treatment of cholestatic pruritus in ALGS with limited data in adults.

Methods: Participants were included if they received ≥ 2 doses of maralixibat at age ≥ 16 years in one of the three previously published maralixibat ALGS clinical trials.

The Gendered Impact of the COVID-19 Pandemic on Employment in Argentina: The Mediating Role of the Public vs. Private Sectors.

This study examines the COVID-19 pandemic's immediate and long-term impact on Argentina's labor market with a focus on gender disparities and the mediating role of the public vs. private sectors. Using household survey data, we assess men and women's employment trends before, during, and after the pandemic.

Design and validation of cell-based potency assays for frataxin supplementation treatments.

Friedreich's ataxia (FRDA) is a multisystem, autosomal recessive disorder caused by mutations in the frataxin () gene. As FRDA is considered an FXN deficiency disorder, numerous therapeutic approaches in development or clinical trials aim to supplement FXN or restore endogenous expression. These include gene therapy, protein supplementation, genome editing or upregulation of transcription.

The Complete Inpatient Record Using Comprehensive Electronic Data (CIRCE) project: A team-based approach to clinically validated, research-ready electronic health record data.

Introduction: The rapid adoption of electronic health record (EHR) systems has resulted in extensive archives of data relevant to clinical research, hospital operations, and the development of learning health systems. However, EHR data are not frequently available, cleaned, standardized, validated, and ready for use by stakeholders. We describe an in-progress effort to overcome these challenges with cooperative, systematic data extraction and validation.

Improved patient reported outcomes with knotless double-row rotator cuff repair with and without lateral row biceps tenodesis at 2- and 5-years.

Background: The purpose of this study is to report outcomes of an arthroscopic knotless double-row (DR) rotator cuff repair (RCR) technique at 2- and 5- years postoperatively, and to compare clinical outcomes in patients undergoing knotless DR RCR with incorporated lateral row biceps tenodesis (LRT) vs. those without LRT.

Methods: All primary RCR surgeries were performed by a single surgeon at a single institution using a knotless transosseous equivalent (TOE) technique.

TEER for SAM of the Mitral Valve and Flail Posterior Mitral Leaflet: 1-Clip Solution.

Transcatheter edge-to-edge repair (TEER) is approved for patients with symptomatic severe mitral regurgitation (MR) who are deemed inoperable or at high surgical risk with life expectancy of more than 1 year, but has also been used off-label in patients with hypertrophic obstructive cardiomyopathy (HOCM) for symptomatic relief who are not candidates for septal reduction therapy. An 83-year-old woman with decompensated heart failure was found to have HOCM with systolic anterior motion of the mitral valve and a large P2 flail segment with ruptured cords. TEER was performed resulting in mild MR and resolution of the prior left ventricular outflow tract gradient.

Response to induction chemotherapy modifies the effect of conventional prognostic factors in high-risk neuroblastoma: A report from the Children's Oncology Group.

Background: Response to induction chemotherapy has been shown to predict outcome in patients with high-risk neuroblastoma (HR-NB), with those achieving a complete response (CR) having superior outcomes.

Methods: We evaluated whether conventional prognostic factors remain prognostic in subsets of patients defined by response to induction. 1244 Patients from four COG high-risk trials were included.

Association of Antihypertensive and Statin Medication Usage With Postoperative Stiffness After Arthroscopic Rotator Cuff Repair: A Retrospective Cohort Study.

Background: Angiotensin-converting enzyme inhibitors (ACEi), angiotensin receptor blockers (ARB), and statins may be able to modulate postoperative stiffness, a major cause of morbidity after arthroscopic rotator cuff repair (aRCR).

Purpose: To determine whether there is an association between ACEi, ARB, or statin usage and stiffness after aRCR.

Study Design: Cohort study; Level of evidence, 3.

Integrated Business and Engineering Educational Experience for Medical Students in the Development of Pediatric Medical Devices.

Background: There are few opportunities in undergraduate medical education that provide formal training in engineering and scientific innovation. Institutions have sought to address student-specific career goals through combined degree programs such as the Medical Scientist Training Program and MD/MBA. However, only a small percentage of medical students pursue these additional degrees.

Embolic Stroke in a Patient With Left Atrial Myxoma.

We present a case of a patient with a left atrial myxoma who presented with an ischemic stroke. Her cardiac myxoma had an irregular contour and was highly mobile, both features that have been associated with a greater risk of thromboembolism. She was treated with prompt surgical resection.

Neighborhood Socioeconomic Status and Cardiovascular Events in Adults With CKD: The CRIC Study.

Rationale & Objective: In the general population, neighborhood socioeconomic status (SES) has been found to be associated with cardiovascular risk, but this relationship has not been well studied among patients with chronic kidney disease (CKD). This study seeked to evaluate the association between neighborhood SES and cardiovascular outcomes in a CKD cohort.

Study Design: Multicenter prospective cohort.

Preoperative approach and technical considerations in parotid surgery.

Various approaches and techniques have been developed to address parotid neoplasms over the years. This article reflects on the integration, modification, and refinement of these techniques over a decade of clinical practice. This article provides a narrative description of the evolution of a head and neck oncologic surgeon's approach to parotid neoplasms.

Phenotypic variability and the gender paradox in the R363C variant of Fabry disease.

Fabry disease is an X-linked lysosomal disease caused by variants in the gene. Although Fabry disease is X-linked, gene variants in females can exhibit a wide range of symptoms, challenging the traditional view of Fabry as an X-linked recessive disease. A family is presented here with a 36-year-old female who is symptomatic with chronic kidney disease and her oligosymptomatic 70-year-old father, both of whom have a heterozygous and hemizygous GLA pathogenic variant, respectively, c.

Frequency and reasons that parents decline genetic testing for critically ill neonates.

Purpose: Current literature reports strong support among parents for genetic testing for ill neonates; yet, some parents decline this testing for unknown reasons. We aimed to document the proportion of parents who decline, describe their clinical and demographic characteristics, and categorize their rationales.

Methods: We reviewed medical records to collect and compare clinical and demographic information for patients whose parents consented to and declined recommended genetic testing.

The Role of Machine Learning Approaches in Pediatric Oncology: A Systematic Review.

To enhance patient outcomes in pediatric cancer, a better understanding of the medical and biological risk variables is required. With the growing amount of data accessible to research in pediatric cancer, machine learning (ML) is a form of algorithmic inference from sophisticated statistical techniques. In addition to highlighting developments and prospects in the field, the objective of this systematic study was to methodically describe the state of ML in pediatric oncology.

A Multicenter Study of Pulmonary Critical Care Trainees' Perception of Airway Management Training during Fellowship.

Background: There is significant variability in airway management training among pulmonary and critical care medicine (PCCM) fellows.

Objective: To assess the airway management training of PCCM fellows, specifically evaluating the role of the institutional approach to intubations (anesthesia-predominant primary operators vs. PCCM-predominant) to the overall fellows' educational experience.

Estimating Recent US Limb Loss Prevalence and Updating Future Projections.

Objective: To estimate limb loss prevalence in the United States (US) by etiology and anatomical position and the trends of limb loss over 40 years.

Design: We used the National Inpatient Sample, Healthcare Cost and Utilization Project to estimate current and future limb loss prevalence in the US and by anatomical location. Prevalence estimates were based on the incidence and duration of the disease.

DAA-PASS: A Prospective Evaluation of HCC Recurrence After Direct Acting Antiviral Therapy.

Direct-acting antiviral (DAA) therapy is associated with a significant reduction in hepatocellular carcinoma (HCC) incidence among patients with cirrhosis, but data are conflicting about the risk of recurrence following DAA therapy. DAA-PASS was a prospective, pragmatic, observational study designed to estimate the risk of HCC recurrence associated with DAA therapy exposure during routine clinical care. Eligible patients were DAA treatment naive with Barcelona Clinic Liver Cancer (BCLC) stage A.

Metastatic Squamous Cell Carcinoma Treated With Pembrolizumab in a Patient With Xeroderma Pigmentosum.

A 5-year-old male with xeroderma pigmentosum from Honduras presented with a rapidly growing mass on the left post-auricular neck, associated with left-sided hearing loss. MRI revealed a large mass with invasion of the external auditory canal, temporal bone, and metastasis to lymph nodes. Biopsy confirmed moderately differentiated squamous cell carcinoma (SCC).