Cost-utility analysis of newborn screening for spinal muscular atrophy in Japan.

Aims: Spinal muscular atrophy (SMA) is a rare genetic disorder characterized by progressive muscle weakness, atrophy, respiratory failure, and in severe cases, infantile death. Early detection and treatment before symptom onset may substantially improve outcomes, allowing patients to achieve age-appropriate motor milestones and longer survival. We assessed the cost-utility of newborn screening (NBS) for SMA in Japan.

Prefilled Ophthalmic syringes - New Possibilities in Terminal Sterilization.

In a joint study carried out by Gerresheimer, Sterigenics and Früh, it could be shown that also NO is well suited to terminally sterilize prefilled ophthalmic syringes. In detail 5 topics were addressed: (1) Compare EtO vs. NO penetration into the filled syringe; (2) Analyze gas ingress though 4 different plunger stoppers including silicone oil free and standard rubber plungers; (3) Scrutinize gas ingress through 2 different cap designs based on different elastomer properties; (4) Investigate gas permeation through COP plastic barrels compared to glass; (5) Check if the Tyvek®-layer has an influence on either sterilization.

Cost-Effectiveness Analysis of Newborn Screening for Spinal Muscular Atrophy in Italy.

Unlabelled: BACKGROUND AND OBJECTIVE: Untreated spinal muscular atrophy (SMA) is the leading genetic cause of death in children younger than 2 years of age. Early detection through newborn screening allows for presymptomatic diagnosis and treatment of SMA. With effective treatments available and reimbursed by the National Health Service, many regions in Italy are implementing newborn screening for SMA.

Valproic Acid-Associated Acute Pancreatitis: Systematic Literature Review.

Long-term medication with valproic acid has been associated with acute pancreatitis. The purpose of this report is to gain insight into the features of this pancreatitis. A preregistered literature search (CRD42023438294) was performed on the National Library of Medicine, Excerpta Medica, Web of Science, and Google Scholar.

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in England.

Introduction: We sought to evaluate the cost-effectiveness of newborn screening (NBS) versus no NBS for 5q spinal muscular atrophy (SMA) in England.

Methods: A cost-utility analysis using a combination of decision tree and Markov model structures was developed to estimate the lifetime health effects and costs of NBS for SMA, compared with no NBS, from the perspective of the National Health Service (NHS) in England. A decision tree was designed to capture NBS outcomes, and Markov modeling was used to project long-term health outcomes and costs for each patient group following diagnosis.

Sex-specific Differences in Infranodal Conduction Properties in Patients Undergoing Transcatheter Aortic Valve Replacement.

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Long-Term Effects of Mountain Hiking vs. Forest Therapy on Physical and Mental Health of Couples: A Randomized Controlled Trial.

Background: Lifelong physical activity is related to longer health span, which is reflected at an individual level, and is of substantial socioeconomic relevance. Sedentary lifestyles, on the other hand, pose an increasingly major public health problem. In addition, the COVID-19 pandemic had a negative impact on activity levels and well-being.

Potent high-avidity neutralizing antibodies and T cell responses after COVID-19 vaccination in individuals with B cell lymphoma and multiple myeloma.

Individuals with hematologic malignancies are at increased risk for severe coronavirus disease 2019 (COVID-19), yet profound analyses of COVID-19 vaccine-induced immunity are scarce. Here we present an observational study with expanded methodological analysis of a longitudinal, primarily BNT162b2 mRNA-vaccinated cohort of 60 infection-naive individuals with B cell lymphomas and multiple myeloma. We show that many of these individuals, despite markedly lower anti-spike IgG titers, rapidly develop potent infection neutralization capacities against several severe acute respiratory syndrome coronavirus 2 variants of concern (VoCs).

Vaccine-hesitant individuals accumulate additional COVID-19 risk due to divergent perception and behaviors related to SARS-CoV-2 testing: a population-based, cross-sectional study.

Purpose: To investigate the perception of SARS-CoV-2 detection methods, information sources, and opinions on appropriate behavior after receiving negative or positive test results.

Methods: In a questionnaire-based, cross-sectional study conducted between September 1 and November 17, 2021, epidemiological, behavioral, and COVID-19-related data were acquired from the public in Munich, Germany.

Results: Most of the 1388 participants obtained information from online media (82.

Assessment and aesthetic impact of a long-term vertical discrepancy between the single anterior maxillary implant-supported crown and adjacent teeth: A retrospective cross-sectional study.

Objectives: To assess the vertical discrepancy between implant-supported crowns and adjacent teeth in the maxillary anterior region at least 8 years after implant placement and to evaluate the influence of this discrepancy on the level of aesthetic awareness of patients.

Material And Methods: The sample consisted of 23 adult individuals evaluated at least 8 years after placement of an implant-supported central or lateral single tooth-fixed partial denture. Patients had their crowns delivered at a mean age of 47.

Cost-Effectiveness of Newborn Screening for Spinal Muscular Atrophy in The Netherlands.

Objectives: Spinal muscular atrophy (SMA) is a rare genetic disorder that causes progressive muscle weakness and paralysis. In its most common and severe form, the majority of untreated infants die before 2 years of age. Early detection and treatment, ideally before symptom onset, maximize survival and achievement of age-appropriate motor milestones, with potentially substantial impact on health-related quality of life.

Mountain Hiking vs. Forest Therapy: A Study Protocol of Novel Types of Nature-Based Intervention.

Introduction: The global rise of urbanization has much triggered scientific interest in how nature impacts on human health. Natural environments, such as alpine landscapes, forests, or urban green spaces, are potential high-impact health resources. While there is a growing body of evidence to reveal a positive influence of these natural environments on human health and well-being, further investigations guided by rigorous evidence-based medical research are very much needed.

Evolution of enhanced innate immune evasion by SARS-CoV-2.

The emergence of SARS-CoV-2 variants of concern suggests viral adaptation to enhance human-to-human transmission. Although much effort has focused on the characterization of changes in the spike protein in variants of concern, mutations outside of spike are likely to contribute to adaptation. Here, using unbiased abundance proteomics, phosphoproteomics, RNA sequencing and viral replication assays, we show that isolates of the Alpha (B.

Nusinersen for Spinal Muscular Atrophy in the United States: Findings From a Retrospective Claims Database Analysis.

Introduction: Spinal muscular atrophy (SMA) is a rare, genetic neuromuscular disorder caused by deletion/mutation of the survival motor neuron 1 gene, characterized by progressive loss of motor neurons, resulting in increasing muscular weakness, deteriorating motor function, and, in its most severe form, death before 2 years. Nusinersen, an antisense oligonucleotide that increases expression of the functional SMN protein, was approved for SMA by US and European regulatory agencies in 2016 and 2017, respectively. The indicated regimen requires intrathecal injections every 4 months, following the first four injections during the loading phase.

How far to go in deconstructing negative symptoms? Behavioural and neural level evidence for the amotivation domain.

Negative symptoms in schizophrenia are conceptualised as loading onto two factors: amotivation and diminished expression, which relate to different behavioural and neural markers. This distinction has proven useful for understanding the cognitive, motivational and neural mechanisms involved in negative symptoms, and for the development of treatments. Recently, it has been advocated that an even finer distinction into five subdomains is needed to understand the mechanisms underlying negative symptoms, and to prevent masking specific treatment and intervention effects.

Matching-adjusted indirect treatment comparison of onasemnogene abeparvovec and nusinersen for the treatment of symptomatic patients with spinal muscular atrophy type 1.

Objective: Onasemnogene abeparvovec, a one-time intravenous gene replacement therapy, and nusinersen, an antisense oligonucleotide that requires ongoing intrathecal administration, have been evaluated as treatments for spinal muscular atrophy (SMA) type 1 in separate Phase III trials, but no head-to-head comparison studies have been conducted. Onasemnogene abeparvovec was compared with nusinersen using a matching-adjusted indirect comparison (MAIC) to estimate the treatment effect of onasemnogene abeparvovec relative to nusinersen for the treatment of symptomatic patients with SMA type 1 for up to 24 months of follow-up.

Methods: In the absence of studies for both onasemnogene abeparvovec and nusinersen with a common comparator, a Bayesian naïve indirect treatment comparison (ITC) and MAIC between onasemnogene abeparvovec and nusinersen were conducted to compare efficacy and safety of onasemnogene abeparvovec with nusinersen.

An updated cost-utility model for onasemnogene abeparvovec (Zolgensma®) in spinal muscular atrophy type 1 patients and comparison with evaluation by the Institute for Clinical and Effectiveness Review (ICER).

: Recent cost-utility analysis (CUA) models for onasemnogene abeparvovec (Zolgensma®, formerly AVXS-101) in spinal muscular atrophy type 1 (SMA1) differ on key assumptions and results. : To compare the manufacturer's proprietary CUA model to the model published by the Institute for Clinical and Economic Review (ICER), and to update the manufacturer's model with long-term follow-up data and some key ICER assumptions. : We updated a recent CUA evaluating value for money in cost per incremental Quality-adjusted Life Year (QALY) of onasemnogene abeparvovec versus nusinersen (Spinraza®) or best supportive care (BSC) in symptomatic SMA1 patients, and compared it to the ICER model.

A pandemic response to home delivery for ambulatory ECG monitoring: Development and validation.

In response to the COVID-19 pandemic, a protocol was designed for mail-out devices and educational materials created to teach patients how to install a device for 2 weeks of continuous ambulatory ECG monitoring. We compared data collection from two sequential patient populations; one who received standard device application in the same clinic in the months before the pandemic response, and another, who received their device by mail for self-installation. Patients received a single phone call when the device was mailed and were able to contact the manufacturer as needed for support.

TRPV3 endogenously expressed in murine colonic epithelial cells is inhibited by the novel TRPV3 blocker 26E01.

TRPV3 is a Ca-permeable cation channel, prominently expressed by keratinocytes where it contributes to maintaining the skin barrier, skin regeneration, and keratinocyte differentiation. However, much less is known about its physiological function in other tissues and there is still a need for identifying novel and efficient TRPV3 channel blockers. By screening a compound library, we identified 26E01 as a novel TRPV3 blocker.

Emphysema after Sinus Grafting: Importance of Patient's Information, Early Diagnosis, and Management.

The sinus elevation procedure is a safe and predictable technique that allows the placement of implants in atrophic posterior maxillae. However, some recommendations have to be followed by the patient to ensure reliable healing. It is particularly important to avoid inducing trauma in the region concerned and through the sinuses.

Development of a surgical guide for minimally invasive corticotomies with a complete digital intraoral and laboratory workflow.

Aim: Surgically facilitated orthodontic treatment is increasingly being used, especially for adults, to facilitate tooth movements and reduce the duration of orthodontic treatment. The present article reports on an innovative, safe, and minimally invasive technique to perform flapless corticotomies using a dedicated surgical guide produced with a complete digital intraoral and laboratory workflow.

Materials And Methods: A 51-year-old man presented with maxillary and mandibular anterior crowding.

Clinical, behavioural and neural validation of the PANSS amotivation factor.

Negative symptoms in schizophrenia have been suggested to map onto two distinct factors - amotivation and diminished expression. Only recently, two-factor solutions for measuring negative symptoms have been proposed for the Positive and Negative Symptom Scale (PANSS), the most commonly used scale to assess the psychopathology of patients with schizophrenia. We aimed to validate the PANSS two-factor structure on a clinical, behavioural and neural level.