Preventative treatment of tuberous sclerosis complex with sirolimus: Phase I safety and efficacy results.

Objective: Tuberous sclerosis complex (TSC) results from overactivity of the mechanistic target of rapamycin (mTOR). Sirolimus and everolimus are mTOR inhibitors that treat most facets of TSC but are understudied in infants. We sought to understand the safety and potential efficacy of preventative sirolimus in infants with TSC.

Retaining peers in the behavioral health workforce: Factors associated with peer recovery support specialists intent to remain or leave current position.

Objective: Peer recovery support specialists (PRSS) are essential members of the behavioral health workforce. While factors contributing to PRSS job satisfaction and burnout have been examined, less is understood about why PRSS consider leaving or remaining in their roles. This study sought to identify personal, professional, and organizational factors related to PRSS' intentions to leave their current position.

Description and functional validation of human enteroendocrine cell sensors.

Enteroendocrine cells (EECs) are gut epithelial cells that respond to intestinal contents by secreting hormones, including the incretins glucagon-like peptide 1 (GLP-1) and gastric inhibitory protein (GIP), which regulate multiple physiological processes. Hormone release is controlled through metabolite-sensing proteins. Low expression, interspecies differences, and the existence of multiple EEC subtypes have posed challenges to the study of these sensors.

Tuft cells act as regenerative stem cells in the human intestine.

In mice, intestinal tuft cells have been described as a long-lived, postmitotic cell type. Two distinct subsets have been identified: tuft-1 and tuft-2 (ref. ).

Mammalian Target of Rapamycin Inhibitor Levels Decrease Under Cenobamate Treatment.

Background: Everolimus therapy has been approved in Tuberous Sclerosis Complex (TSC), for drug-resistant epilepsy as adjunctive therapy. A novel anti-seizure medication is cenobamate, which was approved for adults as adjunctive treatment for focal-onset seizures in drug-resistant epilepsy and is now commonly used in patients with TSC. Drug-drug interactions between cenobamate and mammalian target of rapamycin (mTORi) have not been prospectively evaluated, even though these agents are frequently administered together.

Arthroscopic repair of anteroinferior glenoid rim fractures: mean 10-year clinical and radiologic results.

Background: To date, long-term results of the arthroscopic repair of glenoid rim fractures are missing. The aim of this study was, to evaluate clinical and radiographic results following arthroscopic repair of anteroinferior glenoid fractures using anchors or bioabsorbable compression screws after a mean follow-up period of 10 years.

Methods: Clinical outcome measures included evaluation of recurrent instability, the Constant Score, Subjective Shoulder Value, Rowe Score (RS), Western Ontario Shoulder Instability Score, and Melbourne Instability Shoulder Score.

Intraoperative physician assessment during total hip arthroplasty correlates with DXA parameters.

Purpose: Orthopedic surgeons can assess bone status intraoperatively and recommend skeletal health evaluation for patients with poor bone quality. Intraoperative physician assessment (IPA) at the time of total knee arthroplasty correlates with preoperative DXA-measured bone mineral density (BMD). This study evaluated IPA during total hip arthroplasty (THA) as a quantitative measure of bone status based on tactile assessment.

Clinical and functional studies of MTOR variants in Smith-Kingsmore syndrome reveal deficits of circadian rhythm and sleep-wake behavior.

Heterozygous de novo or inherited gain-of-function mutations in the MTOR gene cause Smith-Kingsmore syndrome (SKS). SKS is a rare autosomal dominant condition, and individuals with SKS display macrocephaly/megalencephaly, developmental delay, intellectual disability, and seizures. A few dozen individuals are reported in the literature.

When Interruption Becomes Innovation: How Integrated Behavioral Health in Primary Care Adapted During COVID-19.

Background And Objectives: Integrated behavioral health (IBH) delivered in primary care is critical to addressing the growing behavioral health crisis in the United States. COVID-19 prompted changes to the core components of IBH, causing the model to shift. The specifics of how IBH teams adapted and what these adaptations mean for the future of IBH teams in primary care are uncertain.

How would a certification in harm reduction impact service delivery and the harm reduction workforce? A qualitative study.

Introduction: Harm reduction utilizes evidence-based strategies to reduce the negative health and social impacts of substance use. As harm reduction services expand across the U.S.

Managing extreme AI risks amid rapid progress.

Preparation requires technical research and development, as well as adaptive, proactive governance.

Abnormality of Early White Matter Development in Tuberous Sclerosis Complex and Autism Spectrum Disorder: Longitudinal Analysis of Diffusion Tensor Imaging Measures.

Abnormalities in white matter development may influence development of autism spectrum disorder in tuberous sclerosis complex (TSC). Our goals for this study were as follows: (1) use data from a longitudinal neuroimaging study of tuberous sclerosis complex (TACERN) to develop optimized linear mixed effects models for analyzing longitudinal, repeated diffusion tensor imaging metrics (fractional anisotropy, mean diffusivity) pertaining to select white matter tracts, in relation to positive Autism Diagnostic Observation Schedule-Second Edition classification at 36 months, and (2) perform an exploratory analysis using optimized models applied to all white matter tracts from these data. Eligible participants (3-12 months) underwent brain magnetic resonance imaging (MRI) at repeated time points from ages 3 to 36 months.

Periprosthetic fractures are osteoporotic fractures: missed opportunities for osteoporosis diagnosis.

Unlabelled: Joint replacement surgery is common in older adults, leading to increasing periprosthetic fracture (PPFx) occurrence. We reviewed all PPFx seen over a 4-year period at an academic hospital. Clinical osteoporosis could be diagnosed based on existing data in 104 (67%) at the time of PPFx.

Common epilepsy variants from the general population are not associated with epilepsy among individuals with tuberous sclerosis complex.

Common genetic variants identified in the general population have been found to increase phenotypic risks among individuals with certain genetic conditions. Up to 90% of individuals with tuberous sclerosis complex (TSC) are affected by some type of epilepsy, yet the common variants contributing to epilepsy risk in the general population have not been evaluated in the context of TSC-associated epilepsy. Such knowledge is important to help uncover the underlying pathogenesis of epilepsy in TSC which is not fully understood, and critical as uncontrolled epilepsy is a major problem in this population.

Dual-energy X-ray Absorptiometry Trends Among US Medicare Beneficiaries: 2005-2019.

Introduction: Bone density measured using dual-energy X-ray absorptiometry (DXA) volume, performance site and interpreters have changed in the US since 2005. The purpose of this report is to provide updated trends in DXA counts, rates, place of service and interpreter specialty for the Medicare fee-for-service population.

Methods: The 100 % Medicare Physician/Supplier Procedure Summary Limited Data Set between 2005-2019 was used.

Bilateral hip DXA Reporting: 2023 Official Positions of the International Society for Clinical Densitometry.

Introduction: This position development conference (PDC) Task Force examined the use and reporting of bilateral hip bone mineral density (BMD) measurements. This was deemed appropriate as increased availability of Dual-energy X-ray Absorptiometry (DXA) technology offering bilateral hip measurement resulted in more routine clinical use. The International Society for Clinical Densitometry Official Positions accept bilateral hip BMD measurement for clinical use but currently do not include recommendations for reporting those studies.

DXA Reporting Updates: 2023 Official Positions of the International Society for Clinical Densitometry.

Introduction: Professional guidance and standards assist radiologic interpreters in generating high quality reports. Initially DXA reporting Official Positions were provided by the ISCD in 2003; however, as the field has progressed, some of the current recommendations require revision and updating. This manuscript details the research approach and provides updated DXA reporting guidance.

Reporting of Full-Length Femur Imaging to Detect Incomplete Atypical Femur Fractures: 2023 Official Positions of the International Society for Clinical Densitometry.

Incomplete atypical femur fractures (iAFFs) are associated with the long-term use of anti-resorptive therapies. Although X-rays are typically used to screen for iAFFs, images from dual-energy X-ray absorptiometry (DXA) offer an alternate method for detecting iAFFs. Although a previous 2019 ISCD Official Position on this subject exists, our task force aimed to update the literature review and to propose recommendations on reporting findings related to iAFFs that may be observed on DXA images.