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.

Accuracy of Preliminary Maxillary Canine and Anchorage Tooth Movement in Premolar Extraction Cases Using 12 In-House Clear Aligners: A Randomised Control Trial Comparing Power Arm and Control.

Objectives: To investigate maxillary canine movement accuracy and anchorage during space closure in first premolar extraction cases (maximum anchorage) using In-House Clear Aligners (IHCAs).

Materials And Methods: A randomised controlled trial with a split-mouth design recruited 16 adults in university setting. Each patient was randomly assigned by side for canine retraction using 12 IHCAs to both the experimental palatal power arm (Pa) and non-Pa control (C).

Factors Influencing the Demoralisation Syndrome of Post-Operative Patients With Breast Cancer: A Cross-Sectional Study.

Aim: We explored demoralisation syndrome among post-operative patients with breast cancer and its relationship with patients' body image and marital intimacy.

Design: A cross-sectional study.

Methods: In this cross-sectional study, 237 patients with breast cancer who were hospitalised in the breast surgery department of Grade A tertiary hospital in Xiamen, China from June 2022 to December 2023 and met the standards of adaxation were selected by the convenience sampling method.

Depression and psychological help-seeking attitude among Turkish mothers of children with autism: problem-focused coping as a mediator.

Studies demonstrate that mothers of children with autism spectrum disorder (ASD) experience depression and are less likely to seek professional psychological help. This study examined the roles of coping strategies in predicting psychological help-seeking attitudes among mothers of children with ASD. A total of 250 Turkish mothers of children with autism were recruited using purposive sampling during their training at the autism center in Istanbul.

A patent review of xanthine oxidase inhibitors (2021-present).

Introduction: Xanthine oxidase (XO) catalyzes the oxidation of both hypoxanthine and xanthine in the last two steps of the purine metabolic pathway, serving as a rate-limiting enzyme for uric acid production as well as a key target for the treatment of gout and other hyperuricemia-related conditions.

Areas Covered: This paper reviews XO inhibitors in patents from 2021 to the present. We summarize in detail the structural classes and characteristics, in vitro and in vivo biological results, and structure‒activity relationships of synthetic inhibitors, as well as the sources, specific structures, research methods, and biological activities of XO inhibitors from natural products.

Association between gestational age and severe maternal morbidity in preterm delivery: A nationwide population-based cohort study.

Objective: This study investigates whether early gestational age (GA) at delivery is associated with an increased risk for severe maternal morbidity (SMM) in women with preterm delivery.

Methods: This retrospective national cohort study based on the Programme de Médicalisation des Systèmes d'Information database included mothers who gave birth between 22 and 37 weeks in metropolitan France in 2019 (in utero deaths and medical terminations of pregnancies were excluded). SMM was defined as a composite criterion consisting of the occurrence of at least one of the following events: death, severe preeclampsia, obstetric surgical complications, severe maternal diseases, and admission to the intensive care unit.

Real-world experience of diagnosis, disability, and daily management in parents of children with different genetic developmental and epileptic encephalopathies: a qualitative study.

Purpose: This study describes the experience of parents of children with developmental and epileptic encephalopathies (DEE) and how the disease impacts their daily lives.

Materials And Methods: A descriptive qualitative study was conducted using purposeful sampling. Twenty-one parents of children with DEEs caused by SCN1A, KCNQ2, CDKL5, PCDH19, and GNAO1 variants were included.

Property Tuning in N-Methylpyrrole Azo-Photoswitches via Modification of the Peripheral Substituents.

Differently substituted pyrrole-azo‑benzene molecular photoswitches were prepared in a straightforward synthetic way. Their fundamental properties were investigated by XRD analysis, differential scanning calorimetry, thermogravimetric analysis, cyclic voltammetry, UV‑Vis absorption spectroscopy, Hyper-Rayleigh Scattering, and NMR spectroscopy; the experimental results were further corroborated by DFT calculations. Thermal robustness, the HOMO/LUMO levels, and the absorption properties were altered mostly by substituting the N‑methylpyrrole moiety and further fine-tuned by modifying the benzene substituents.

Analyzing the mother and father's parenthood behaviors in the early postpartum period.

Objective: This study aimed to examine the parenting behaviors of mothers and fathers during the postpartum period.

Methods: This descriptive cross-sectional study was conducted on 200 married individuals who had healthy babies between February 2019-September 2020 at a hospital. This study used introductory information forms for parents, "Postpartum Parenting Behavior Scale (PPBS)" and "Marital Adjustment Scale (MAS)".

Efficacy and safety of low-dose TBI combined MAC regimen for HSCT in high-risk AML patients with active disease.

Background: The management of high-risk acute myeloid leukaemia (AML) remains challenging, highlighting the need for innovative conditioning strategies beyond current regimens.

Methods: In the present single-arm study, a FACT regimen comprised of low-dose total body irradiation (TBI) with fludarabine, cytarabine and cyclophosphamide was employed to treat cytogenetically high-risk AML patients exhibiting pre-transplant active disease. This clinical trial is registered in the Chinese Clinical Trial Registry with the registration number ChiCTR2000035111.

Predicting the Health-Promoting Lifestyle Profile of Pregnant Women Based on Their Health Literacy Levels: A Cross-Sectional Study.

Aim: Health literacy is considered as key factor to empower women to participate in self-care and child-care activities. The purpose of the present study is to determine the relationship between health-promoting behaviours and health literacy among pregnant women.

Design: A cross-sectional study.

Cost-effectiveness analysis of 9-valent human papillomavirus vaccine combined with screening for cervical cancer in Japan.

Objective: In Japan, the current coverage rate of human papillomavirus (HPV) vaccination is only 30%, and the rate of biennial cervical screening is 40%. The Japanese Government has attempted to increase the coverage of HPV vaccination and cervical screening. We analyzed the cost-effectiveness of the 9-valent HPV vaccine and cervical screening in Japan.

Effect of serotonin receptor gene variants on substance use disorders.

Background: Substance use disorders are multifaceted conditions influenced by both genetic and environmental factors. Serotonergic pathways are known to be involved in substance use disorder susceptibility, with genetic markers within serotonin receptor genes identified as potential risk factors.

Methods: To further explore this relationship, we conducted a study to investigate the association between several polymorphisms in five serotonin receptor genes (, , ) and substance use disorders (SUD) in Jordanian males by sequencing genotypes in 496 SUD patients and 496 healthy controls.

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.

Comparison of Plant Genomic DNA Extraction Kits Using the Proofman-LMTIA Amplification Assay.

Introduction: The extraction of DNA is the basis of molecular biology research. The quality of the extracted DNA is one of the key factors for the success of molecular biology experiments.

Objective: To select a suitable DNA extraction method for Chinese medicinal herbs and seeds.

Protective role of Angiogenin in muscle regeneration in amyotrophic lateral sclerosis: Diagnostic and therapeutic implications.

Amyotrophic lateral sclerosis (ALS) is a fatal neuromuscular disease with no effective treatments, in part caused by variations in progression and the absence of biomarkers. Mice carrying the SOD1G93A transgene with different genetic backgrounds show variable disease rates, reflecting the diversity of patients. While extensive research has been done on the involvement of the central nervous system, the role of skeletal muscle remains underexplored.

Beyond Classification: A Unique Case of Self-Resolving Cutaneous Mucinosis Associated With Streptococcal Infection in a Child.

A 3-year-old boy presented with an unusual combination of indurated skin, sclerotic plaques with lichenification, and yellowish papules. Histopathology revealed diffuse dermal mucin deposits, and laboratory tests showed a positive throat culture for Group A streptococcus and elevated serum anti-streptolysin titers. An 10-day course of oral amoxicillin was associated with near-complete resolution of all dermatological findings within 4 months.

De-biasing the bias: methods for improving disparity assessments with noisy group measurements.

Health care decisions are increasingly informed by clinical decision support algorithms, but these algorithms may perpetuate or increase racial and ethnic disparities in access to and quality of health care. Further complicating the problem, clinical data often have missing or poor quality racial and ethnic information, which can lead to misleading assessments of algorithmic bias. We present novel statistical methods that allow for the use of probabilities of racial/ethnic group membership in assessments of algorithm performance and quantify the statistical bias that results from error in these imputed group probabilities.

Examining longitudinal associations between interpersonal outcomes and general psychopathology factors across preadolescence using random intercept cross-lagged panel model.

Background: Interpersonal outcomes and mental health problems are closely associated. However, their reciprocal influence has not been directly examined while considering the temporal stability of these constructs, as well as shared and unique variance associated with internalising, externalising and attention problems. Using random intercept cross-lagged panel models (RI-CLPM), we tested the hypotheses that negative bidirectional associations at the between-person and negative cross-lagged effects at the within-person level would emerge between interpersonal outcomes (friendship quality and perceived popularity) and mental health problems (i.