Mild behavioral impairment in idiopathic REM sleep behavior disorder and Lewy body disease continuum.

To investigate the clinical impact of mild behavioral impairment (MBI) in a predefined cohort with Lewy body disease (LBD) continuum. Eighty-four patients in the LBD continuum participated in this study, including 35 patients with video-polysomnography-confirmed idiopathic REM sleep behavior disorder (iRBD) and 49 clinically established LBD. Evaluations included the Movement Disorder Society-Unified Parkinson's Disease Rating Scale (MDS-UPDRS), neuropsychological tests, and MBI Checklist (MBI-C).

Genetic subtypes of B-cell acute lymphoblastic leukemia in adults.

B-cell acute lymphoblastic leukemia (B-ALL) is a rare malignancy in adults with outcomes remaining poor, especially compared to children. Over the past two decades, extensive whole-genome studies have identified numerous genetic alterations driving leukemia, leading to the recognition of more than 20 distinct subtypes which are closely associated with treatment response and prognosis. In pediatric B-ALL, large correlation studies have made genetic classification a central component of risk-adapted treatment strategies.

Genomic profiling of intimal sarcoma reveals molecular subtypes with distinct tumor microenvironments and therapeutic implications.

Background: Intimal sarcoma is a rare and aggressive soft-tissue sarcoma with limited treatment options. We explored genomic profiles of intimal sarcoma to uncover therapeutic implications.

Materials And Methods: We analyzed tumor tissues from patients with intimal sarcoma who visited the Seoul National University Hospital (SNUH) using whole-exome, whole-transcriptome, and clinical next-generation sequencing (NGS), integrated with intimal sarcoma NGS data from two public cohorts.

Detecting Early Recurrence With Circulating Tumor DNA in Stage I-III Biliary Tract Cancer After Curative Resection.

Purpose: This study aimed to assess (1) the prognostic value of circulating tumor DNA (ctDNA) and (2) the ability of ctDNA to detect recurrence compared with standard surveillance in curatively resected early-stage biliary tract cancer (BTC).

Methods: This retrospective, multicenter cohort study evaluated serial ctDNA testing for surveillance in patients with early-stage BTC after curative resection. We evaluated the relapse-free survival (RFS) by ctDNA positivity.

Surgery for Obstructive Sleep Apnea in Children With Down Syndrome in an Australian Population.

Objectives: The prevalence of obstructive sleep apnea (OSA) is known to be higher in children with Down syndrome (DS) than the general pediatric population, with lower rates of surgical cure. This study aims to determine the prevalence and predictors of OSA and evaluate the outcomes of surgical intervention for OSA in a cohort of Australian children with DS.

Methodology: A retrospective chart review was conducted on 156 patients with DS from 0 to 18 years who had undergone overnight, attended polysomnography (PSG) at Sydney Children's Hospital from January 2010 to July 2023.

Comprehensive molecular characterization to predict immunotherapy response in advanced biliary tract cancer: a phase II trial of pembrolizumab.

Background: Immune checkpoint inhibitors (ICIs) are effective in a subset of patients with metastatic solid tumors. However, the patients who would benefit most from ICIs in biliary tract cancer (BTC) are still controversial.

Materials And Methods: We molecularly characterized tissues and blood from 32 patients with metastatic BTC treated with the ICI pembrolizumab as second-line therapy.

A practical guide for diagnostic investigations and special considerations in patients with Huntington's disease in Korea.

The Korean Huntington's Disease Society (KHDS) has recently published a practical guide for clinical approach to patients with Huntington's disease (HD) in Korea in April issue of Journal of Movement Disorders this year.1 This article is the second practical guide particularly focused on 1) essential points of genetic counseling for families of HD covering issues of testing minors and prenatal/preimplantation testing; and 2) premanifest HD and useful laboratory investigations for assessing disease severity and progression. The latter part of this article deals with special issues of juvenile and very late-onset HD, and common comorbidities in HD patients.

Safety of current treatments for advanced cholangiocarcinoma.

Introduction: Biliary tract cancer (BTC) originates from the biliary epithelium of the small ducts within the liver (intrahepatic cholangiocarcinoma, IHCC), the main ducts of the hilum (extrahepatic cholangiocarcinoma, EHCC), or in the gallbladder (gallbladder cancer, GC). Due to presentation with nonspecific symptoms as well as absence of screening, most patients present with advanced disease and unfavorable prognosis.

Areas Covered: The ABC-02 trial established the current first-line chemotherapy with gemcitabine/platinum for advanced BTC in 2010.

Life course social mobility and cognitive function among middle-aged and older adults in India: Exploring heterogeneity by gender.

This study investigates the link between life course social mobility and cognitive function among middle-aged and older adults in India, specifically emphasizing whether upward and downward mobility exerts symmetric associations and potential gender heterogeneity within these associations. Leveraging data from the Longitudinal Aging Study in India 2017-2018, encompassing 64,710 individuals aged 45 years or above, we classified social mobility as 'consistently high,' 'upward mobility,' 'downward mobility,' and 'consistently low,' based on socioeconomic position during childhood and late adulthood. Multivariable regression and gender-interaction analyses were employed to assess associations.

Complete Genome Sequences of Phages EarickHC, Figueroism, FinalFrontier, SBlackberry, Skylord, and Slay isolated using .

Phages EarickHC, Figueroism, FinalFrontier, SBlackberry, Skylord, and Slay were isolated from soil samples collected around Southern California using the host All six phages are lytic and have a siphoviral morphology. Genomes are 39,843 to 52,992 bp in length and contain 58 to 91 protein coding genes.

Quality of life outcomes in terminal cancer patients attending regional cancer centers in South Korea: protocol for a prospective cohort study.

Introduction: Patients with cancer experience physical, mental, and social pain that affects themselves and their families. The increasing cancer incidence and advances in treatment have increased the number of cancer survivors in Korea, and there is an influx of patients in Seoul and other metropolitan areas, leading to shortages of continuous care and comprehensive life support facilities. Patients must travel long distances for treatment, which poses logistical and quality-of-life challenges.

ATP-binding cassette G23 is required for Arabidopsis seed coat suberization.

Suberin is an extracellular hydrophobic polymer deposited in seed coats that acts as a barrier to regulate the movement of ions, water, and gases, and protects seeds against pathogens. However, the molecular mechanisms underlying suberin deposition in the seed coat remain unknown. In this study, the in planta role of ATP-binding cassette G23 (ABCG23) was investigated in the Arabidopsis seed coat.

Draft genome sequence of CHEE98.

The draft genome sequence of CHEE98, isolated from cheese, is presented here. The whole-genome assembly is 2.7 Mbp in size, with a GC content of 45.

The role of extracellular vesicles in kidney disease progression.

Extracellular vesicles (EVs) are nanosized membranous particles released by nearly all cell types, playing a crucial role in mediating cell-to-cell communication. The molecular profile of EVs often reflects that of their originating cells, rendering them valuable for therapeutic and diagnostic purposes. The kidney comprises various cell types, and urinary EVs are predominantly produced from tubular, glomerular, and urinary bladder cells.

Developing institution-specific admission competency criteria for prospective health sciences students.

Background: Given the critical role of health professionals in societal health, the development of robust and effective selection methods is of fundamental concern for educational institutions within the field of health sciences education. Conventionally, admission competencies have been determined by institutional authorities. Developing institution-specific competency criteria enables an admission process that is mission- and value-aware, evidence-based, and strategically adaptable.

Retinal Degeneration Associated With Biallelic RDH12 Variants: Longitudinal Evaluation of Retinal Structure and Visual Function in Pediatric Patients.

Purpose: The purpose of this study was to determine the natural history of the photoreceptor disease in a large group of pediatric patients with RHD12-associated Leber congenital amaurosis (RDH12-LCA), to estimate the changes expected over the duration of a clinical trial, and to define the relationship between the photoreceptor loss and visual dysfunction.

Methods: Forty-six patients representing 36 families were included. The great majority of patients were under the age of 18 years.

Implementation of maternal death audits and changes in maternal health care in Cambodia, 2010-2017.

Objective: Cambodia is one of seven countries globally that met Millennium Development Goal 5A: reduction of maternal deaths by at least 75% between 1990 and 2015. The maternal death audit (MDA) was instituted in 2004 to support the improvement of maternal care. We evaluated progress in MDA implementation and maternal health services in Cambodia between 2010 and 2017.

Physical and Emotional Sibling Violence Behaviors with Closest-Aged Siblings in Childhood: An Exploratory Study Examining Associations with Sibling Relationships in Adulthood.

Research examining the influence of physical and emotional sibling violence on siblings' relationships across the lifespan is scant. This exploratory research examined whether affect, behavior, and cognitions associated with closest-aged sibling relationships in childhood as well as the occurrence of behaviors associated with physical and emotional sibling violence in childhood impacted adult sibling relationships in a sample of 156 adults. Using the Lifespan Sibling Relationship Scale (Riggio J Soc Pers Relat 17(6):707-728, 2000), associations were found between all aspects of childhood and adulthood sibling relationships.

Pioneering Computational Culture Within Pharmacy Schools by Empowering Students With Data Science and Bioinformatics Skills.

As advancements in digital health lead to the generation of increasingly diverse and voluminous pharmaceutical data, it is increasingly critical that we teach trainee pharmaceutical scientists how to leverage this data to lead future innovations in health care and pharmaceutical research. To address this need, the University of Southern California Alfred E. Mann School of Pharmacy and Pharmaceutical Sciences is incorporating data science and bioinformatics into the graduate and undergraduate curricula through introductory courses tailored for students without prior programming experience.

Genetics Adviser: The development and usability testing of a new patient digital health application to support clinical genomic testing.

Purpose: Increasing demand for genomic testing coupled with genetics workforce shortages has placed unsustainable pressure on standard models of care. Digital tools can offer improved access, efficiency, and cost savings. We created a patient-facing digital health application to support genomic testing.