Bone marrow transplantation reverses metabolic alterations in multiple sulfatase deficiency: a case series.

Background: Multiple sulfatase deficiency (MSD) is an exceptionally rare neurodegenerative disorder due to the absence or deficiency of 17 known cellular sulfatases. The activation of all these cellular sulfatases is dependent on the presence of the formylglycine-generating enzyme, which is encoded by the SUMF1 gene. Disease-causing homozygous or compound heterozygous variants in SUMF1 result in MSD.

The importance of trunk motion in wearable based infant spontaneous movement analysis.

The characteristics of spontaneous movements in infants are essential for the early detection of neurological pathologies, with the Prechtl method being a widely recognized approach. While the Prechtl method is effective in predicting motor risks, its reliance on the evaluator's expertise limits its scalability, particularly in low-income areas. In such contexts, the use of inertial sensors combined with automated analysis presents a promising accessible alternative; however, more research is necessary to get results comparable to those of the Precht method.

Alkaline phosphatase decline and pain response as predictors of overall survival benefit in patients treated with radium-223: a post hoc analysis of the REASSURE study.

Background: Alkaline phosphatase (ALP) declines and pain responses can occur during radium-223 (Ra) treatment, but their association with treatment outcomes is unclear.

Methods: For patients with metastatic castration-resistant prostate cancer treated with Ra in the REASSURE study, we investigated whether ALP decline (Week 12) and/or pain response (during treatment) are associated with improved overall survival (OS). The Brief Pain Inventory-Short Form (BPI-SF) was used to assess pain at baseline and pain response (in patients with baseline BPI-SF score ≥2).

Deep learning MRI models for the differential diagnosis of tumefactive demyelination versus -wildtype glioblastoma.

Background And Purpose: Diagnosis of tumefactive demyelination can be challenging. The diagnosis of indeterminate brain lesions on MRI often requires tissue confirmation via brain biopsy. Noninvasive methods for accurate diagnosis of tumor and non-tumor etiologies allows for tailored therapy, optimal tumor control, and a reduced risk of iatrogenic morbidity and mortality.

Effectiveness of shared decision making strategies for stroke prevention among patients with atrial fibrillation: cluster randomized controlled trial.

Objective: To evaluate the effectiveness of multiple decision aid strategies in promoting high quality shared decision making for prevention of stroke in patients with non-valvular atrial fibrillation.

Design: Cluster randomized controlled trial.

Setting: Six academic medical centers in the United States.

Complications of percutaneous coronary intervention.

Complications of percutaneous coronary intervention (PCI) can lead to significant morbidity and mortality. In-depth understanding of the mechanisms and management options of these complications as well as timely recognition and action can sometimes be lifesaving. In this review we discuss the mechanisms, prevention methods, diagnosis, and management of three major PCI complications: a) perforation b) acute vessel closure, and c) equipment loss.

Cerebral cortical functional hyperconnectivity in a mouse model of spinocerebellar ataxia type 8 (SCA8).

Spinocerebellar Ataxia Type 8 (SCA8) is an inherited neurodegenerative disease caused by a bidirectionally expressed CTG●CAG expansion mutation in the ATXN-8 and ATXN8-OS genes. While SCA8 patients have motor abnormalities, patients may also exhibit psychiatric symptoms and cognitive dysfunction. It is difficult to elucidate how the disease alters brain function in areas with little or no degeneration producing both motor and cognitive symptoms.

Event-driven PrEP beyond cisgender men who have sex with men.

Despite advancements in existing antiretroviral-based prevention strategies, including daily oral, locally acting, and injectable options, there is a pressing need for more inclusive and flexible event-driven pre-exposure prophylaxis (PrEP) strategies for all. Event-driven or intermittent dosing of PrEP in populations beyond cisgender men who have sex with men would offer a promising alternative by fitting prevention into the diverse lifestyles of affected populations and thereby advancing health equity. Evidence from PrEP clinical trials, pharmacokinetic studies, modelling studies, and real-world observational research suggests that event-driven PrEP could be a flexible and inclusive option, yet optimal dosing has not been established across sex and gender spectrums.

Norepinephrine-mediated slow vasomotion drives glymphatic clearance during sleep.

As the brain transitions from wakefulness to sleep, processing of external information diminishes while restorative processes, such as glymphatic removal of waste products, are activated. Yet, it is not known what drives brain clearance during sleep. We here employed an array of technologies and identified tightly synchronized oscillations in norepinephrine, cerebral blood volume, and cerebrospinal fluid (CSF) as the strongest predictors of glymphatic clearance during NREM sleep.

Woody plant reinvasion shortens the lifespan of grassland restoration treatments.

An important question in restoration ecology is whether restored ecological regimes are more vulnerable to transitions back to a degraded state. In woody-invaded grasslands, high-intensity fire can collapse woody plant communities and induce a shift back to a grass-dominated regime. Yet, legacies from woody-dominated regimes often persist and it remains unclear whether restored regimes are at heightened vulnerability to reinvasion.

Efficacy of vidian neurectomy in treating chronic rhinosinusitis with nasal polyps combined with allergic rhinitis: A systematic review and meta-analysis.

Objective: To evaluate the impact of additional vidian neurectomy or posterior nasal neurectomy in patients with chronic rhinosinusitis with nasal polyps (CRSwNP) and allergic rhinitis (AR), compared to the outcomes of conventional endoscopic sinus surgery alone.

Methods: Up to May 2024, six databases were systematically searched. We evaluated studies that compared the clinical improvement of chronic sinusitis-related symptoms and endoscopic findings between the neurectomy group (endoscopic sinus surgery plus vidian neurectomy or posterior nasal neurectomy) and the control group (endoscopic sinus surgery only).

Maintenance of intraoperative correction with multi-rod constructs in adult long construct spine fusion surgery.

Objective: The purpose of this study was to evaluate the risk factors for loss of intraoperative correction, as measured by lumbar lordosis (LL), with an emphasis on rod characteristics.

Methods: A retrospective study identified patients at least 50 years of age who underwent instrumented fusion with an upper instrumented vertebrae (UIV) in the upper thoracic spine (T1-T6) or thoracolumbar junction (T10-L2) to the pelvis. Inclusion criteria included intraoperative x-rays that allowed for LL measurement, postop standing x-rays, and a minimum follow up of 24 months with the original rods still in place.

The effect of carbon fiber custom dynamic orthosis type on kinematics and kinetics of lower extremity joints in individuals with lower limb traumatic injuries.

Background: Carbon fiber custom dynamic orthoses have been used to improve gait mechanics after lower limb trauma in military service members, with the goal of restoring function and improving outcomes. However, the effects of commercially available carbon fiber orthoses available to civilians on lower extremity joint kinetics and kinematics are poorly understood.

Research Question: The aim of this study was to examine the effect of two commercially available orthoses on lower extremity kinematics and kinetics in individuals with lower limb trauma.

ATG9 promotes autophagosome formation through interaction with LC3.

The autophagosome is a double-membrane organelle that executes macroautophagy. Previous studies have shown that the autophagosome formation is driven by autophagy-related genes, among which ATG9 is the only conserved transmembrane protein and has been shown to play a critical role in the autophagosome formation. However, how ATG9 binds to the growing autophagosome membrane has remained uncertain.

Which items of the movement assessment battery for children are most sensitive for identifying children with probable developmental coordination disorder? Results from a large-scale study.

Introduction: Despite the widespread use of the Movement Assessment Battery for Children, 2nd edition (MABC-2), little is known about the sensitivity or specificity of the individual items to detect probable Developmental Coordination Disorder (p-DCD). This study examined which specific MABC-2 items were most sensitive to identify children with p-DCD and which items would predict p-DCD.

Methods: Based on a large dataset including European and African children aged 3-16 years (n = 4916, typically developing (TD, 49.

Does Management of Postoperative Nausea and Vomiting Differ by Patient Demographics? An Evaluation of Perioperative Anesthetic Management - An Observational Study.

Background: Disparities in postoperative nausea and vomiting (PONV) and its prophylaxis may exist based on race, ethnicity, and socioeconomic status (SES). Our objective was to evaluate whether patients from racial and ethnic minority groups and patients from lower SES backgrounds received less appropriate PONV prophylaxis and experienced higher rates of PONV and post-discharge nausea and vomiting (PDNV).

Methods: This retrospective cohort study included 23,333 adults who underwent major surgeries (total knee arthroplasty, cholecystectomy, hysterectomy, and prostatectomy) from 2017-2022 in a single, multi-state hospital system.

Restrictive or Liberal Blood Transfusion in Patients with Myocardial Infarction and CKD.

Background: Chronic kidney disease (CKD) is associated with higher risk of myocardial infarction and anemia. Among patients with anemia and CKD who experience myocardial infarction, it remains uncertain if a liberal red blood cell transfusion threshold strategy (hemoglobin cutoff [Hgb] < 10 g/dL) is superior to a restrictive transfusion threshold (Hgb 7-8 g/dL) strategy.

Methods: Among the 3,504 patients enrolled in the Myocardial Ischemia and Transfusion (MINT) trial with non-missing creatinine, we compared baseline characteristics and 30-day and 6-month outcomes of patients without CKD (N = 1279), CKD with eGFR 30-60 mL/min/1.

Longer Total Interhospital Transfer Times for Rural Sepsis Patients Not Associated with Increased Mortality.

Objectives: Sepsis is a time-sensitive condition, and many rural emergency department (ED) sepsis patients are transferred to tertiary hospitals. The objective of this study was to determine whether longer transport times during interhospital transfer are associated with higher sepsis mortality or increased hospital length-of-stay (LOS).

Methods: A cohort of rural adult (age ≥ 18y) sepsis patients transferred between hospitals were identified in the TELEmedicine as a Virtual Intervention for Sepsis Care in Emergency Departments (TELEVISED) parent study.

Expert Rater Agreement for Symptoms and Diagnosis of Bipolar Disorder in Youth.

The diagnosis of bipolar disorder (BD) in young children has been a topic of debate, in part owing to varied interpretation of manic-like symptoms. We examined how expert academic clinicians participating in the pediatric bipolar biobank varied in their interpretation and application of Diagnostic and Statistical Manual of Mental Disorders (DSM) criteria and diagnoses. Study co-investigators reviewed 12 standardized narratives and for each marked a visual analog scale with their confidence in the presence of manic episodes and criteria.

Heterogeneity in Developmental Trajectories of Internalizing and Externalizing Symptomatology: Associations with Risk and Protective Factors.

Among a large sample of youth (9-10 years old at baseline) from the Adolescent Brain Cognitive Development (ABCD) Study® (n = 11,661) we modeled trajectories of psychopathology over three years and associated risk and protective factors. Growth mixture modeling characterized latent classes with distinct psychopathology trajectories. Results indicated four different internalizing trajectories: a high-decreasing class, a moderate-decreasing class, a moderate-increasing class, and a low-stable class.

A field resource for the glioma cerebrospinal fluid proteome: impacts of resection and location on biomarker discovery.

Background: While serial sampling of glioma tissue is rarely performed prior to recurrence, cerebrospinal fluid (CSF) is an underutilized longitudinal source of candidate glioma biomarkers for understanding therapeutic impacts. However, the impact of key variables to consider in longitudinal CSF samples for monitoring biomarker discovery, including anatomical location and post-surgical changes, remains unknown.

Methods: Aptamer-based proteomics was performed on 147 CSF samples from 74 patients, 71 of whom had grade 2-4 astrocytomas or grade 2-3 oligodendrogliomas.

A Hitchhiker's Guide Toward CSF Biomarkers for Neuro-Oncology.

Cerebrospinal fluid (CSF) has emerged as a valuable liquid biopsy source for glioma biomarker discovery and validation. CSF produced within the ventricles circulates through the subarachnoid space, where the composition of glioma-derived analytes is influenced by the proximity and anatomical location of sampling relative to tumor, in addition to underlying tumor biology. The substantial gradients observed between lumbar and intracranial CSF compartments for tumor-derived analytes underscore the importance of sampling site selection.

Human Health Surveillance During Animal Disease Emergencies: Minnesota Department of Health Response to Highly Pathogenic Avian Influenza Outbreaks, 2015 and 2022-2023.

Objectives: Highly pathogenic avian influenza (HPAI) poses an occupational risk for poultry workers, responders, and others in contact with infected birds. The objective of this analysis was to describe HPAI surveillance methods and outcomes, and highlight the challenges, successes, and lessons learned during the Minnesota Department of Health's (MDH's) public health response to HPAI outbreaks in Minnesota poultry flocks in the years 2015 and 2022-2023.

Methods: During both outbreaks, MDH staff attempted to contact all potentially exposed people and conduct a standardized interview.