Quantitative natural history modeling of HPDL-related disease based on cross-sectional data reveals genotype-phenotype correlations.

Objectives: Biallelic HPDL variants have been identified as the cause of a progressive childhood-onset movement disorder, with a broad clinical spectrum from severe neurodevelopmental disorder to juvenile-onset pure hereditary spastic paraplegia type 83. This study aims at delineating the geno- and phenotypic spectra of patients with HPDL-related disease, quantitatively modelling the natural history, and uncovering genotype-phenotype associations.

Methods: A cross-sectional analysis of 90 published and one novel case was performed, employing a Human Phenotype Ontology-based approach.

Videodermoscopy as a Diagnostic Tool for Pili Trianguli and Canaliculi Syndrome.

Pili trianguli et canaliculi syndrome is a rare hair shaft disorder characterized by frizzy hair that cannot be smoothed flat. Affected hair shafts are triangular or kidney-shaped with longitudinal grooving. Diagnosis typically requires electron microscopy, which may be cost-prohibitive, or alternatively, the distinctive features of hair shafts can be identified through histological examination of cross sections, that is time-consuming.

Improved methodology for tracing a pulse of 13C-labelled tree photosynthate carbon to ectomycorrhizal roots, other soil biota and soil processes in the field.

Isotopic pulse-labelling of photosynthate allows tracing of carbon (C) from tree canopies to belowground biota and calculations of its turnover in roots and recipient soil microorganisms. A high concentration of label is desirable, but is difficult to achieve in field studies of intact ecosystem patches with trees. Moreover, root systems of trees overlap considerably in most forests, which requires a large labelled area to minimize the impact of C allocated belowground by un-labelled trees.

Model-Informed Once-Daily Dosing Strategy for Bedaquiline and Delamanid in Children, Adolescents and Adults with Tuberculosis.

The complexity of the currently registered dosing schedules for bedaquiline and delamanid is a barrier to uptake in drug-resistant tuberculosis treatment across all ages. A simpler once-daily dosing schedule is critical to ensure patient-friendly regimens with good adherence. We assessed expected drug exposures with proposed once-daily doses for adults and compared novel model-informed once-daily dosing strategies for children with current World Health Organization (WHO) recommended dosing.

Impact of Race on the Outcomes of Retinoblastoma Treated With Primary Enucleation: A Global Study of 1426 Patients.

Background: To evaluate the clinical presentation, pathological features and outcomes of retinoblastoma based on the race of origin in a global cohort of patients.

Methods: Retrospective collaborative study of 1426 patients who underwent primary enucleation for retinoblastoma.

Results: Patients were grouped into Caucasians (n = 231, 16%), Asians (n = 841, 59%), Hispanics (n = 226, 16%), Arabs (n = 96, 7%) and Others (Africans, African Americans, Indigenous Australians; n = 32, 2%) cohorts.

Racial discrimination and adverse childhood experiences predicting depressive symptoms and developmental assets: Testing cultural socialization and preparation for bias as moderators among Black adolescents and caregivers.

The current study examined whether adverse childhood experiences and racial discrimination predicted adolescents' internal developmental assets, external developmental assets, and depressive symptoms. We also tested whether these relations were buffered by aspects of caregivers' reports of ethnic-racial socialization efforts (i.e.

The Chronic Headache Self-Efficacy Scale: Development and assessment of measurement properties.

Objective: To develop and assess the psychometrics of the Chronic Headache Self-Efficacy Scale (CHASE).

Background: Existing scales assess self-efficacy in coping strategies and management of symptoms and triggers but do not measure other important self-efficacy domains, such as performing daily activities and socializing in patients with chronic daily headache (CDH).

Methods: The study had two phases: (i) Development of the 14-item CHASE, with items derived from patients with CDH and a multidisciplinary healthcare team; (ii) longitudinal observational study for psychometric evaluation.

Medicare Advantage and rural hospital profitability.

Purpose: This study compares 2018-2023 Medicare Advantage (MA) days as a percentage of total Medicare days in rural and urban hospitals, describes 2022-2023 operating profitability of rural and urban hospitals by quartiles of MA days as a percentage of total Medicare days, and explores hospital characteristics that may be important for understanding the relationship between MA and profitability of rural hospitals.

Methods: Financial and hospital data were obtained from the Centers for Medicare & Medicaid Services (CMS) Healthcare Cost Report Information System (HCRIS) for the years 2018 to 2023. Hospitals were assigned to quartiles based on MA days as a percentage of total Medicare days.

Disease Progression Mathematical Modeling With a Case Study on Hepatitis B Virus Infection.

Chronic Hepatitis B presents a significant health and socioeconomic burden. The risk of hepatocellular carcinoma remains elevated although treatments are available. Achieving an optimal treatment regimen necessitates a deep comprehension of the dynamic relationship between the virus and its host across disease states.

Social determinants of contraception use among rural adolescents: Implications for addressing disparities.

Purpose: Few studies have examined disparities in-and social determinants of-contraception use among rural adolescents despite evidence of higher teen birth rates and greater STI risk in rural communities. Guided by a social determinants of health (SDoH) framework, this cross-sectional study aimed to address these gaps.

Methods: Data come from the 2018 Healthy Youth Survey, including N = 3757 sexually active, rural-based adolescents.

A Bayesian Hybrid Design With Borrowing From Historical Study.

In early phase drug development of combination therapy, the primary objective is to preliminarily assess whether there is additive activity from a novel agent when combined with an established monotherapy. Due to potential feasibility issues for conducting a large randomized study, uncontrolled single-arm trials have been the mainstream approach in cancer clinical trials. However, such trials often present significant challenges in deciding whether to proceed to the next phase of development due to the lack of randomization in traditional two-arm trials.

POP-REFINE: A Comprehensive Framework for Evaluating and Optimizing Representativeness in Clinical Trials.

Clinical research has historically failed to include representative levels of historically underrepresented populations and these inequities continue to persist. Ensuring representativeness in clinical trials is crucial for patients to receive clinically appropriate treatment and have equitable access to novel therapies; enhancing the generalizability of study results; and reducing the need for post-marketing commitments focused on underrepresented groups. As demonstrated by recent legislation and guidance documents, regulatory agencies have shown an increased interest in understanding how novel therapies will impact the patient population that will receive them.

A descriptive examination of rurality in the Environmental influences on Child Health Outcomes Cohort: Implications, illustrations, and future directions.

Purpose: The Environmental influences on Child Health Outcomes (ECHO) Cohort has enrolled over 60,000 children to examine how early environmental factors (broadly defined) are associated with key child health outcomes. The ECHO Cohort may be well-positioned to contribute to our understanding of rural environments and contexts, which has implications for rural health disparities research. The present study examined the outcome of child obesity to not only illustrate the suitability of ECHO Cohort data for these purposes but also determine how various definitions of rural and urban populations impact the presentation of findings and their interpretation.

Rural-urban divide in risk perception of LSD: Implications for psychedelic-assisted therapy.

Background: Recent legislative initiatives in the United States have focused on the medical and legal status of psychedelics, prompting interest in understanding public perceptions of their risks. This study investigates rural-urban differences in the perception of LSD and cannabis risks using national survey data.

Methods: Data from the National Survey of Drug Use and Health (NSDUH) between 2015 and 2021 were analyzed.

Effectiveness and Safety of IVIG for the Treatment of HMGCR Immune-Mediated Necrotizing Myopathy.

Introduction/aims: Immune-mediated necrotizing myopathy (IMNM) is an autoimmune myopathy. We aimed to compare clinical outcomes in patients with antibodies against 3-hydroxy-3-methylglutaryl-CoA reductase (HMGCR) treated on immunotherapy regimens with and without maintenance intravenous immunoglobulin (IVIG). The secondary aim was to assess outcomes in a subset that received IVIG monotherapy.

California Warehouse Industry Worker Injury Rates in the Occupational Health and Safety Administration's Injury Tracking Application, 2018-2023.

Background: Occupational health and safety surveillance in the US relies primarily on federal and state administrative data sources which all have limitations created by underreporting and different sampling frames. To begin closing data gaps, in 2019 the federal Occupational Health and Safety Administration began requiring many US business establishments to submit injury and illness data to the Injury Tracking Application (ITA). We present an example use of these data by characterizing injuries in the California warehousing industry.

Global, regional, and national burdens of intracerebral hemorrhage and its risk factors from 1990 to 2021.

Background And Purpose: The aim of this study was to assess the intracerebral hemorrhage (ICH) burden in 204 countries and territories worldwide from 1990 to 2021, disaggregated by sex, age, and sociodemographic index (SDI) at the global, regional, and country levels.

Methods: Data from the 2021 Global Burden of Disease Study (GBD) were used to calculate age-standardized prevalence (ASPR), incidence (ASIR), death (ASDR), and disability-adjusted life year (DALY) rates for ICH. The estimated annual percentage change (EAPC) was used to assess time patterns.

The role of parents' and adolescents' critical reflection in the development of white youths' commitments to dismantling oppression.

Given the access that white youth have to privilege and power, it is important to understand how they might develop life goals related to dismantling multiple forms of oppression, which we term critical purpose. Parents may support their children's critical purpose via their own critical reflection (understanding of the root causes of disparities in society), which may be associated with their child's critical reflection. Structural equation models of two waves of data from 351 white youth showed an indirect relationship between parent critical reflection and youth critical purpose through youth critical reflection.

Long-Term Complications in Patient-Specific Plates for Maxillary Reconstruction.

Objectives: Virtual surgical planning (VSP) allows for optimal reconstruction of maxillary defects with fibula free flaps. Current data are limited regarding long-term complications of patient-specific plates (PSPs) in this setting. Our objective was to determine long-term complications of PSPs in maxillary reconstruction using fibula free flaps.

From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

Purpose: Heterozygous pathogenic variants in SPAST are known to cause Hereditary Spastic Paraplegia 4 (SPG4), the most common form of HSP, characterized by progressive bilateral lower limbs spasticity with frequent sphincter disorders. However, there are very few descriptions in the literature of patients carrying biallelic variants in SPAST.

Methods: Targeted Sanger sequencing, panel sequencing and exome sequencing were used to identify the genetic causes in 9 patients from 6 unrelated families with symptoms of HSP or infantile neurodegenerative disorder.

CFD-Based Determination of Optimal Design and Operating Conditions of a Fermentation Reactor Using Bayesian Optimization.

The efficiency of fermentation reactors is significantly impacted by gas dispersion and concentration distribution, which are influenced by the reactor's design and operating conditions. As the process scales up, optimizing these parameters becomes crucial due to the pronounced concentration gradients that can arise. This study integrates the kinetics of the fermentation process with hydrodynamic analysis using Bayesian optimization to efficiently determine the optimal reactor design and operating conditions.

Complications that arise with nasogastric tubes after hospitalization in the pediatric population: A mixed methods systematic review.

Children use nasogastric tubes (NGTs) to ensure optimum nutrition and medication delivery when oral feeding fails or when they experience faltering growth. Although this method is less invasive, children may experience complications associated with NGTs. There is a gap in the literature regarding the types and prevention of complications of NGTs in the pediatric population at home.

Potential Evolutionary Convergence in Trophic Adaptations of Two Booidean Snake Lineages as Evidenced by Skull Morphology.

Booidean snakes are a diverse and widespread lineage with an intriguing evolutionary and biogeographic history. By means of cranial morphology and osteology, this study investigates the evolutionary convergence in the Neotropical genera Boa and Corallus on the one hand and the Malagasy clade comprising Acrantophis and Sanzinia on the other. We hypothesize that the mostly arboreal Corallus and Sanzinia present larger jaws and longer teeth to keep hold of the prey and resist gravity and torsional forces acting on their skull while hanging from branches, while terrestrial genera such as Acrantophis show thinner jaws with shorter teeth because they can rely on the full length of their coils to immobilize and constrict the prey together with a substrate that supports the whole of their body.