Visual Acuity, Full-field Stimulus Thresholds, and Electroretinography for 4 Years in The Rate of Progression of USH2A-related Retinal Degeneration (RUSH2A) Study.

Purpose: To describe progression of best-corrected visual acuity (BCVA), full-field stimulus thresholds (FST), and electroretinography (ERG) over 4 years in the -related Retinal Degeneration study and to assess their suitability as clinical trial endpoints.

Design: Prospective natural history study.

Participants: Participants (n = 105) with biallelic disease-causing sequence variants in USH2A and BCVA letter scores of ≥54 were included.

Intraoperative Anesthetic Care During Emergent/Urgent Craniotomy or Craniectomy for Intracranial Hypertension or Herniation: A Systematic Review.

This systematic review aimed to identify and describe best practice for the intraoperative anesthetic management of patients undergoing emergent/urgent decompressive craniotomy or craniectomy for any indication. The PubMed, Scopus, EMBASE, and Cochrane databases were searched for articles related to urgent/emergent craniotomy/craniectomy for intracranial hypertension or brain herniation. Only articles focusing on intraoperative anesthetic management were included; those investigating surgical or intensive care unit management were excluded.

Mapping mitochondrial morphology and function: COX-SBFSEM reveals patterns in mitochondrial disease.

Mitochondria play a crucial role in maintaining cellular health. It is interesting that the shape of mitochondria can vary depending on the type of cell, mitochondrial function, and other cellular conditions. However, there are limited studies that link functional assessment with mitochondrial morphology evaluation at high magnification, even fewer that do so in situ and none in human muscle biopsies.

"Blindness" is not a contraindication for voretigene neparvovec-rzyl treatment-a review of 9 cases.

Objective: Biallelic RPE65 pathogenic variants may cause Leber congenital amaurosis (LCA). Voretigene neparvovec-rzyl (VN, Luxturna) is the only approved subretinal gene therapy that demonstrated benefit and safety. The eligibility criteria are vague and variable between centres.

COMT and MTHFR Genetic Variants Combined Effects on Adolescent Idiopathic Scoliosis Progression.

Genetic variants encoding both low COMT and MTHFR activity are associated with idiopathic scoliosis. The combined impact of and on progression of adolescent idiopathic scoliosis (AIS) is unknown. This study investigated if and low activity variants are associated with AIS progression.

Mean Platelet Volume as an Emerging Biomarker for Diagnosing Acute Appendicitis: A Retrospective Study.

Introduction Acute appendicitis is a common surgical emergency that requires a timely and accurate diagnosis to prevent complications. Several laboratory markers have been assessed to improve the diagnostic accuracy of acute appendicitis, including C-reactive protein (CRP), white blood cell (WBC) count, and cytokines like interleukins and tumor necrosis factor-alpha. One less commonly used but potentially valuable marker is the mean platelet volume (MPV), which indicates the size of circulating platelets and has the potential to serve as a biomarker for inflammatory conditions.

Hypothesized pharmacogenomic and medication influences on tetrahydrocannabinol and cannabidiol metabolism in a cohort of unselected oral cannabis users.

Background: Differences in cannabinoid metabolism and patient responses can arise even with equivalent doses and formulations. Genetic polymorphisms in genes responsible for cannabinoid metabolism and medications that alter CYP450 pathways responsible for metabolism of cannabinoids may account for some of this variability.

Materials And Methods: A retrospective chart review was conducted on a cohort of unselected patients who had previously completed pharmacogenomic testing and reported oral cannabis use, as defined as "oral" or "by mouth" route of administration.

Predicting Severity of Acute Pancreatitis-Evaluation of Neutrophil-to-Lymphocyte Count Ratio as Emerging Biomarker: A Retrospective Analytical Study.

Introduction Acute pancreatitis (AP) is a pancreatic inflammatory disease that can range in severity from mild, self-limiting forms to severe cases with high mortality rates. AP has various etiologies, including lifestyle factors like alcohol consumption and obesity, and its rapid progression makes early and accurate prediction of severity critical for effective management and improved patient outcomes. The traditional AP severity assessment tools, such as Ranson's criteria and APACHE II, require extensive data and time, making them less feasible in emergency settings.

Potential Use of Voice-Activated Personal Assistants in Diabetes Prevention and Management: An Exploratory Qualitative Study Using the Consolidated Framework for Implementation Research.

Background: Diabetes affects millions of people in the United States and poses significant health and economic challenges, but it can be prevented or managed through health behavior changes. Such changes might be aided by voice-activated personal assistants (VAPAs), which offer interactive and real-time assistance through features such as reminders, or obtaining health information. However, there are little data on interest and acceptability of integrating VAPAs into programs such as the National Diabetes Prevention Program (National DPP) or diabetes, self-management, education, and support (DSMES) services.

A clinical perspective on muscle specific kinase antibody positive myasthenia gravis.

The discovery of autoantibodies directed against muscle-specific kinase (MuSK) in "seronegative" myasthenia gravis (MG) patients marked a milestone in MG research. In healthy muscle, MuSK regulates a phosphorylation pathway, which is essential for the development and maintenance of acetylcholine receptor (AChR) clusters at the neuromuscular junction. Autoantibodies directed against MuSK are predominantly of the IgG4 subclass, but there is increasing evidence that IgG1-3 could also contribute to the pathology underlying MuSK-MG.

Immune transcriptomic profile in adult female pigs: dominance status has more influence than environmental enrichment.

Background: Assessing farm animals' welfare is crucial, yet practical physiological tools are still lacking. In this study, we tested whether the peripheral blood mononuclear cell (PBMC) transcriptome shows variations in association with sows' welfare. To do this, we compared animals whose welfare states were assumed to differ due to their lives in more or less enriched environments and to their different dominance statuses.

Level I and II deficits-A clinical survey on international practice of awake craniotomy and definitions of postoperative "major" and "minor" deficits.

Background: Awake craniotomy (AC) is a technique that balances maximum resection and minimal postoperative deficits in patients with intracranial tumors. To aid in the comparability of functional outcomes after awake surgery, this study investigated its international practice and aimed to define categories of postoperative deficits.

Methods: A survey was distributed via neurosurgical networks in Europe (European Association of Neurosurgical Societies, EANS), the Netherlands (Nederlandse Vereniging voor Neurochirurgie, NVVN), Belgium (Belgian Society of Neurosurgery, BSN), and the United States (Congress of Neurological Surgeons, CNS) between April 2022 and April 2023.

Evidence-based guideline: premature ovarian insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae, and treatment of POI.

What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular, and cognitive health.

Practical and statistical aspects of subgroup analyses in surgical neuro-oncology: A comprehensive review from the PIONEER Consortium.

Subgroup analyses are essential to generate new hypotheses or to estimate treatment effects in clinically meaningful subgroups of patients. They play an important role in taking the next step towards personalized surgical treatment for brain tumor patients. However, subgroup analyses must be used with consideration and care because they have significant potential risks.

Ferromagnetic Exchange and Slow Magnetic Relaxation in Cobalt Bis(1,2-dithiolene)-Bridged Dilanthanide Complexes.

The construction of multinuclear lanthanide-based molecules with significant magnetic exchange interactions represents a key challenge in the realization of single-molecule magnets with high operating temperatures. Here, we report the synthesis and magnetic characterization of two series of heterobimetallic compounds, (Cp*Ln)(μ-Co(pdt)) (Ln = Y, Gd, Dy; pdt = 1,2-diphenylethylenedithiolate) and [K(18-crown-6)][(Cp*Ln)(μ-Co(pdt))] (Ln = Y, Gd), featuring two lanthanide centers bridged by a cobalt bis(1,2-dithiolene) complex. Dc magnetic susceptibility data collected for the Gd congeners indicate significant Gd-Co ferromagnetic exchange interactions with fits affording = +11.

Evidence-based guideline: Premature Ovarian Insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.

What Is Known Already: Premature ovarian insufficiency (POI) presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life; fertility; and bone, cardiovascular and cognitive health.

Evidence-based guideline: premature ovarian insufficiency.

Study Question: How should premature/primary ovarian insufficiency (POI) be diagnosed and managed, based on the best available evidence from published literature?

Summary Answer: The current guideline provides 145 recommendations on symptoms, diagnosis, causation, sequelae and treatment of POI.

What Is Known Already: POI presents a significant challenge to women's health, with far-reaching implications, both physically and emotionally. The potential implications include adverse effects on quality of life, on fertility and on bone, cardiovascular and cognitive health.

Perceived Health Concerns and Barriers to Care in Persons With Overweight and Obesity: A Patient Survey.

Objectives: To identify patient characteristics, health concerns, and barriers to care based on overweight or obesity.

Methods: A 50-question anonymous survey was administered to patients. Data were compared by body mass index (BMI).

Novel deletion and nonsense pathogenic variant in Bardet-Biedl syndrome.

Background: Bardet-Biedl syndrome (BBS) is a rare syndromic ciliopathy characterized with retinal degeneration and a broad range of systemic features. Twenty-six BBS-associated genes have been identified to date and clinical genetic testing resolves around 80% of the cases. Two BBS cases unsolved by clinical genetic testing were recruited to identify causative variants using next-generation sequencing.

Next-generation marker-free transplastomic plants: engineering the chloroplast genome without integration of marker genes in Solanum tuberosum (potato).

This study describes an optimized plastid genetic engineering platform to produce full marker-free transplastomic plants with transgene integrated at homoplasmy in one step in tissue culture. Plastid engineering is attractive for both biotechnology and crop improvement due to natural bio-confinement from maternal inheritance, the absence of transgene positional effects and silencing, the ability to express transgenes in operons, and unparalleled production of heterologous proteins. While plastid engineering has had numerous successes in the production of high-value compounds, no transplastomic plants have been approved for use in agriculture.

Impaired Muscle Parameters in Individuals With Premature Ovarian Insufficiency: A Pilot Study.

Context: Although bone loss is a recognized consequence of premature ovarian insufficiency (POI), the impact on skeletal muscle health is less well-defined.

Objective: To compare muscle mass and function parameters between women with POI and controls.

Methods: Cross-sectional study from a tertiary health network and community between 2017 and 2023.