Emerging biomarkers in Gaucher disease.

Gaucher disease (GD) is a rare lysosomal disorder characterized by the accumulation of glycosphingolipids in macrophages resulting from glucocerebrosidase (GCase) deficiency. The accumulation of toxic substrates, which causes the hallmark symptoms of GD, is dependent on the extent of enzyme dysfunction. Accordingly, three distinct subtypes have been recognized, with type 1 GD (GD1) as the common and milder form, while types 2 (GD2) and 3 (GD3) are categorized as neuronopathic and severe.

Knowledge of Mandatory Reporting Laws and Recording of Clients' Abuse Data: Effects of a Sexual Health Curriculum Training for Health Students in Tanzania.

Tanzania mandated reporting laws aim to identify and address child abuse, yet healthcare students' awareness and reporting are limited. This study assessed training's impact on their knowledge of reporting laws and handling confidential child abuse data. The study involved 412 medical and nursing students in a randomized controlled trial (RCT), with 206 participants receiving sexual health training and a waitlist control group of equal size receiving no intervention.

Non-Operative Management of Cholecystitis in Pregnant Patients Remains Common.

Cholecystectomy is the recommended treatment for acute cholecystitis in pregnancy, leading to fewer pregnancy-related complications than non-operative management. However, past research demonstrated high rates of non-operative management despite these recommendations. Rates of cholecystostomy tube usage and outcomes in pregnancy are not well described.

Recommended Opioid Receptor Tool Compounds: Comparative for Receptor Selectivity Profiles and for Pharmacological Antinociceptive Profiles.

Opioid agonist ligands bind opioid receptors and stimulate downstream signaling cascades for various biological processes including pain and reward. Historically, before cloning the receptors, muscle contraction assays using isolated organ tissues were used followed by radiolabel ligand binding assays on native tissues. Upon cloning of the opioid G protein-coupled receptors (GPCRs), cell assays using transfected opioid receptor DNA plasmids became the standard practice including S-GTPγS functional and cAMP based assays.

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.

Increased usage of doxycycline for young children with Lyme disease.

Background: The 2018 Infectious Disease Committee of the American Academy of Pediatrics stated that up to 3 weeks or less of doxycycline is safe in children of all ages. Our goal was to examine trends in doxycycline treatment for children with Lyme disease.

Methods: We assembled a prospective cohort of children aged 1 to 21 years with Lyme disease who presented to one of eight participating Pedi Lyme Net centers between 2015 and 2023.

A Case of Atraumatic Splenic Rupture Due to T-Cell/Histiocyte-Rich Large B-Cell Lymphoma and a Potential Role for Massive Transfusion Protocol.

Splenic rupture leads to massive hemorrhage and requires immediate surgical intervention. Splenic rupture results from trauma or from underlying disease processes. Lymphoma is a rare cause of atraumatic splenic rupture (ASR) with high mortality rates.

The Two Sides of Placebo Analgesia: Differential Functional Connectivity Reveals Mechanisms of Placebo Analgesic Response.

Background: Previous research has demonstrated that placebo induction manipulations can reduce an individual's pain through non-specific mechanisms, such as expectancy manipulations. However, despite robust research characterizing these effects, individual differences in predicting placebo analgesic responses are not well understood.

Methods: Fifty-four healthy pain-free adults over 18 (M=22.

Participation in mainstream community groups by older United States adults with intellectual and developmental disabilities: A multiple case study.

Background: Adults with intellectual and developmental disabilities want to be included in all aspects of community life, but social inclusion continues to be very limited.

Method: We used a qualitative multiple case study to describe the experiences and perspectives of four older workers or retirees with intellectual and developmental disabilities aged 45 to 63 who each participated in a different socially inclusive community group.

Results: Three themes emerged: finding a good match; support for participation; and the outcomes of participating in a mainstream community group.

Interdisciplinarity and self-injury: Toward an inclusive research and treatment paradigm.

Background: Historically, the research and treatment of self-injury has been disciplinarily siloed. As a result, the behaviour is understood and treated differently among individuals with and without intellectual and developmental disabilities. We explore the potential for an interdisciplinary research and practice agenda in self-injury.

Patient-Specific Rods vs Traditional Rods in Surgical Correction of Adult Spinal Deformities: A Case-Matched Study.

Aim: Patient specific pre-contoured rods (PSRs) represent a relatively new technological development aimed at improving surgical outcomes and reducing complications in adult spinal deformity surgery. To date, only a limited number of studies have been published comparing PSRs with traditional spinal rods. In this paper, we compare the surgical, imaging, and clinical outcomes of PSRs and traditional spinal rods in a single-center case-matched study.

Fine particulate matter from burning oil and gas and associated neurological symptoms among Deepwater Horizon oil spill cleanup workers.

Burning and flaring of oil and gas following the 2010 Deepwater Horizon (DWH) oil spill generated high airborne concentrations of fine particulate matter (PM). Neurological effects of PM have been previously reported, but this relationship has received limited attention in the context of oil spills. We evaluated associations between burning-related PM and prevalence of self-reported neurological symptoms during, and 1-3 years after, the DWH disaster cleanup.

Neurobiological fingerprints of negative symptoms in schizophrenia identified by connectome-based modeling.

Aim: As a central component of schizophrenia psychopathology, negative symptoms result in detrimental effects on long-term functional prognosis. However, the neurobiological mechanism underlying negative symptoms remains poorly understood, which limits the development of novel treatment interventions. This study aimed to identify the specific neural fingerprints of negative symptoms in schizophrenia.

Hand dominance shift during sleep in sexsomnia: a clue to pathophysiology?

Study Objectives: To elucidate whether awake handedness in sexsomnia is retained during sleep to uncover potential clues about the underlying neurophysiologic mechanisms.

Methods: Participants' and observers' self-reported handedness during sexsomnia events.

Results: Case 1: A 22 y/o right-handed female with an eight-year history of nocturnal sleep-related masturbatory behavior (SMB) involving the left hand (LH) exclusively.

An Expert Consensus Statement for Implementing Cognitive Behavioral Therapy for Nightmares in Adults.

Objectives: Research supports cognitive behavioral therapies for nightmares (CBT-N) in adults. However, the nuances of implementation and unstandardized nomenclature for treatment components has created confusion in the field. To provide clarification, an expert consensus panel convened to review treatment manual components and to develop guidelines for the standardized implementation and terminology of CBT-N.

The intermetacarpal distance method for assessment of active thumb radial abduction has excellent test-retest agreement, reliability, and precision in persons with non-operative thumb carpometacarpal osteoarthritis.

Background: Limitations in thumb radial abduction (i.e., carpometacarpal extension) are commonly experienced by persons with thumb carpometacarpal osteoarthritis.

Epidemiology of Antisynthetase Syndrome and Risk of Malignancy in a Population-based Cohort (1998-2019).

Objective: Population-based epidemiology studies about antisynthetase syndrome (ASSD) are lacking. Our aims were to determine the incidence and prevalence of ASSD and assess malignancy risk among patients following ASSD diagnosis.

Methods: A retrospective, population-based cohort of adults with incident ASSD residing in Olmsted County, Minnesota, in 1998-2019 was assembled.

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).

BiomedRAG: A retrieval augmented large language model for biomedicine.

Retrieval-augmented generation (RAG) involves a solution by retrieving knowledge from an established database to enhance the performance of large language models (LLM). , these models retrieve information at the sentence or paragraph level, potentially introducing noise and affecting the generation quality. To address these issues, we propose a novel BiomedRAG framework that directly feeds automatically retrieved chunk-based documents into the LLM.

Rethinking the rise of early onset gastrointestinal cancers: a call to action.

Since the early 1990s, there has been a dramatic rise in gastrointestinal cancers diagnosed in patients under age 50 for reasons that remain poorly understood. The most significant change has been the increase in incidence rates of early-onset colorectal cancer, especially rates of left-sided colon and rectal cancers. Increases in gastric, pancreatic, and other gastrointestinal cancer diagnoses have further contributed to this trend.

Gait during community ambulation and laboratory-based walking in people with mild traumatic brain injury.

Background: Gait impairments are common in individuals with mild traumatic brain injury (mTBI), presenting in the acute phase and often persisting in subtle ways over time. Despite the prominence of laboratory gait evaluations, a comprehensive understanding of gait deficits post-mTBI necessitates the examination of various gait domains in real-world environments. Assessing gait during a community ambulation task (CAT) may capture real-world challenges and influence focused interventions or rehabilitation in individuals with mTBI.

An Incognito Standardized Patient Approach for Measuring and Reducing Intersectional Healthcare Stigma: A Pilot Cluster Randomized Control Trial.

Background: Consistent evidence shows stigma impedes healthcare access in people living with HIV (PLWH) and men who have sex with men (MSM). We evaluated the impact of a stigma reduction training for providers whose design was informed by direct observation of their clinical behaviors obtained through visits by incognito standardized patient (SP).

Setting: We conducted this study in in sexually transmitted infection clinics in Guangzhou, China.