The Hand-Withdrawal-Method - An Adapted and Simplified Method of Limits for Behavioral Heat Pain Assessment.

The method-of-limits (MLI) is an established psychophysical procedure, for example for determining thermal thresholds. The standard MLI relies on fixating the thermode at the stimulation site by means of a strap and requires the participant to terminate the increase in heat by pressing a button. This, however, raises concerns regarding safety and task complexity in specific populations, such as cognitively impaired individuals, people with high fear of pain or young children (< 6 years).

Improvements in Walking Distance during Nusinersen Treatment - A Prospective 3-year SMArtCARE Registry Study.

Background And Objectives: Disease progression in patients with spinal muscular atrophy (SMA) has changed dramatically within the past years due to the approval of three different disease-modifying treatments. Nusinersen was the first drug to be approved for the treatment of SMA patients. Clinical trials provided data from infants with SMA type 1 and children with SMA type 2, but there is still insufficient evidence and only scarcely reported long-term experience for nusinersen treatment in ambulant patients.

Not within spitting distance: Salivary immunoassays of estradiol have subpar validity for predicting cycle phase.

Salivary steroid immunoassays are widely used in psychoneuroendocrinological studies of menstrual cycle phase, puberty, and menopause. Though manufacturers advertise their assays as suitable, they have not been rigorously validated for these purposes. We collated data from eight menstrual cycle studies across > 1200 female participants and > 9500 time points.

Mice with lung airway ciliopathy develop persistent lung infection and have a proinflammatory lung phenotype associated with decreased T regulatory cells.

Introduction: Human pulmonary infection with non-tuberculous mycobacteria (NTM) such as (Mabs) occurs in seemingly immunocompetent patients with underlying structural lung disease such as bronchiectasis in which normal ciliary function is perturbed. In addition to alterations in mucociliary clearance, the local immunologic milieu may be altered in patients with structural lung disease, but the nature of these changes and how they relate to NTM persistence remain unclear.

Methods: We used a mouse strain containing a conditional floxed allele of the gene , which encodes for the protein Polaris.

Genome-wide analysis of copy-number variation in humans with cleft lip and/or cleft palate identifies COBLL1, RIC1, and ARHGEF38 as clefting genes.

Cleft lip with or without cleft palate (CL/P) is a common birth defect with a complex, heterogeneous etiology. It is well established that common and rare sequence variants contribute to the formation of CL/P, but the contribution of copy-number variants (CNVs) to cleft formation remains relatively understudied. To fill this knowledge gap, we conducted a large-scale comparative analysis of genome-wide CNV profiles of 869 individuals from the Philippines and 233 individuals of European ancestry with CL/P with three primary goals: first, to evaluate whether differences in CNV number, amount of genomic content, or amount of coding genomic content existed within clefting subtypes; second, to assess whether CNVs in our cohort overlapped with known Mendelian clefting loci; and third, to identify unestablished Mendelian clefting genes.

mechanotransduction: Effect of acute exercise on the metabolomic profiles of mouse synovial fluid.

Objective: Exercise is known to induce beneficial effects in synovial joints. However, the mechanisms underlying these are unclear. Synovial joints experience repeated mechanical loading during exercise.

Efficacy and Safety of N-Acetyl-l-Leucine in Children and Adults With GM2 Gangliosidoses.

Background And Objectives: GM2 gangliosidoses (Tay-Sachs and Sandhoff diseases) are rare, autosomal recessive, neurodegenerative diseases with no available symptomatic or disease-modifying treatments. This clinical trial investigated N-acetyl-l-leucine (NALL), an orally administered, modified amino acid in pediatric (≥6 years) and adult patients with GM2 gangliosidoses.

Methods: In this phase IIb, multinational, open-label, rater-blinded study (IB1001-202), male and female patients aged ≥6 years with a genetically confirmed diagnosis of GM2 gangliosidoses received orally administered NALL for a 6-week treatment period (4 g/d in patients ≥13 years, weight-tiered doses for patients 6-12 years), followed by a 6-week posttreatment washout period.

Nutritional and health status of adult Syrian refugees in the early years of asylum in Germany: a cross-sectional pilot study.

Background: Migration is usually accompanied by changes in the social, cultural, and religious environment, socioeconomic status, and housing conditions, all of which affect nutritional health. In a cross-sectional study, we assessed the dietary intake as well as nutritional and health situation in a population of Syrian refugees who have resided in Germany for at least six months up to four years since 2015. The primary aim of this pilot study was to evaluate the nutritional and health status in comparison to reference values.

Daily Rapid Antigen Exit Testing to Tailor University COVID-19 Isolation Policy.

We evaluated daily rapid antigen test (RAT) data from 323 COVID-19-positive university students in Connecticut, USA, during an Omicron-dominant period. Day 5 positivity was 47% for twice-weekly screeners and 26%-28% for less-frequent screeners, approximately halving each subsequent day. Testing negative >10 days before diagnosis (event time ratio (ETR) 0.

Vaporized Nicotine (E-Cigarette) and Tobacco Smoking Among People With HIV: Use Patterns and Associations With Depression and Panic Symptoms.

Background: Vaporized nicotine (VN) use is increasing among people with HIV (PWH). We examined demographics, patterns of use, depression, and panic symptoms associated with VN and combustible cigarette (CC) use among PWH.

Methods: We analyzed VN use among PWH in care at 7 US sites.

Global phylogeography of ridley sea turtles ( spp.): evolution, demography, connectivity, and conservation.

Unlabelled: Globally distributed marine taxa are well suited for investigations of biogeographic impacts on genetic diversity, connectivity, and population demography. The sea turtle genus includes the wide-ranging and abundant olive ridley (), and the geographically restricted and 'Critically Endangered' Kemp's ridley (). To investigate their historical biogeography, we analyzed a large dataset of mitochondrial DNA (mtDNA) sequences from olive (n = 943) and Kemp's (n = 287) ridleys, and genotyped 15 nuclear microsatellite loci in a global sample of olive ridleys (n  285).

Associations among enacted weight stigma, weight self-stigma, and multiple physical health outcomes, healthcare utilization, and selected health behaviors.

Background: This study examined the relationship among enacted weight stigma, weight self-stigma, and multiple health outcomes. Weight stigma, a stressor experienced across all body sizes, may contribute to poorer physical health outcomes by activating the nervous and endocrine system or by triggering counterproductive health behaviors like lower physical activity, maladaptive eating patterns, and delayed health care, as well as provider bias that may cause a medical concern to be discounted. While associations of weight stigma with mental health issues are well documented, less is known about its association with physical health.

Treatment of CLN1 disease with a blood-brain barrier penetrating lysosomal enzyme.

Neuronal ceroid lipofuscinosis type 1(CLN1 disease) is a rare autosomal recessive lysosomal storage disease caused by genetic defects of palmitoyl protein thioesterase-1(), leading to accumulation of lipofuscin granules in brain and progressive neurodegeneration. Psychomotor regression, seizures, loss of vision, and movement disorder begin in infancy and result in early death. Currently, no disease-modifying therapy is available.

Neurosurgical shunt treatment of pediatric hydrocephalus: epidemiology and influencing factors on revision surgeries: a single-center retrospective analysis of 131 patients.

Background: Paediatric hydrocephalus is a result of a dysfunction of cerebrospinal fluid circulation, and it has diverse pathogeneses. This study investigates the epidemiology of paediatric hydrocephalus, as well as the influences of primary aetiology and implant type on treatment complications and the development of new therapeutic approaches and strategies.

Methods: Between 2013 and 2018, a retrospective analysis of 131 children, who were suffering from hydrocephalus, was conducted.

Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study.

Background: The development and approval of disease modifying treatments have dramatically changed disease progression in patients with spinal muscular atrophy (SMA). Nusinersen was approved in Europe in 2017 for the treatment of SMA patients irrespective of age and disease severity. Most data on therapeutic efficacy are available for the infantile-onset SMA.

Metagenome-Assembled Genome of a Putative Chemoheterotroph from Volcanic Terrain in Hawaii.

Here, we present the draft genome for a new putative species, Gaiellasilicea maunaloa, most closely related to Gaiella occulta, within the phylum This group contains Gram-negative, aerobic mesophilic species. This metagenome-assembled genome (MAG) contributes to knowledge of life in volcanic environments and may inform investigations of life beyond Earth.

Associations between drug and alcohol use, smoking, and frailty among people with HIV across the United States in the current era of antiretroviral treatment.

Objective: To examine associations between frailty and drug, alcohol, and tobacco use among a large diverse cohort of people with HIV (PWH) in clinical care in the current era.

Methods: PWH at 7 sites across the United States completed clinical assessments of patient-reported measures and outcomes between 2016 and 2019 as part of routine care including drug and alcohol use, smoking, and other domains. Frailty was assessed using 4 of the 5 components of the Fried frailty phenotype and PWH were categorized as not frail, pre-frail, or frail.

Impact and Recovery from COVID-19-Related Disruptions in Colorectal Cancer Screening and Care in the US: A Scenario Analysis.

Background: Many colorectal cancer-related procedures were suspended during the COVID-19 pandemic. In this study, we predict the impact of resulting delays in screening (colonoscopy, FIT, and sigmoidoscopy) and diagnosis on colorectal cancer-related outcomes, and compare different recovery scenarios.

Methods: Using the MISCAN-Colon model, we simulated the US population and evaluated different impact and recovery scenarios.