ALG8-CDG: Advances in Molecular and Prenatal Phenotyping Facilitate Prenatal Diagnosis and Genetic Counseling.

Background: ALG8-congenital disorder of glycosylation (ALG8-CDG) is a rare inherited metabolic disorder leading to severe multisystem manifestations, with no reported prenatal patients to date.

Methods: We describe two fetuses from a single family with ALG8-CDG presenting with prenatal hydrops, undergoing comprehensive prenatal ultrasound, umbilical cord blood biochemistry, autopsy, placental pathology, and genetic testing.

Results: Prenatal ultrasound revealed fetal hydrops, skeletal anomalies, cardiac developmental abnormalities, cataracts, echogenic kidneys and bowel, oligohydramnios, choroid plexus cysts, and intrauterine growth restriction.

Differential insights into the distribution characteristics of bacterial communities and their response to typical pollutants in the sediment and soil of large drinking water reservoir.

In this study, a large drinking water reservoir (Fengshuba Reservoir) was chosen as a representative case, and the bacterial communities in the sediments and soils of Water-level fluctuating zone (WLFZ) as well as their responses to heavy metals (HMs) and polycyclic aromatic hydrocarbons (PAHs) were systematically investigated. The results indicated that the abundance and diversity of the bacterial community obviously changed with seasonal hydrological variations in sediments, and the absolute abundance and composition of bacteria community differed significantly between the sediment phase and soil phase. Bacteria with the ability to degrade pollutants rapidly proliferate and gain ascendancy in the soil phase, with Burkholderia-Caballeronia-Paraburkholderia (B-C-P) and Bradyrhizobium forming the core of the largest community.

Association of Metabolomics With Incidence of Age-Related Macular Degeneration: The UK Biobank Study.

Purpose: The purpose of this study was to identify serum metabolites associated with age-related macular degeneration (AMD) incidence and investigate whether metabolite profiles enhance AMD risk prediction.

Methods: In a prospective cohort study involving 240,317 UK Biobank participants, we assessed the associations of 168 metabolites with AMD incidence using Cox hazards models. Principal component analysis (PCA) captured 90% of the variance in metabolites.

Experimental Full-volume Airway Approximation for Assessing Breath-dependent Regional Aerosol Deposition.

Modeling aerosol dynamics in the airways is challenging, and most modern personalized tools consider only a single inhalation maneuver through less than 10% of the total lung volume. Here, we present an modeling pipeline to produce a device that preserves patient-specific upper airways while approximating deeper airways, capable of achieving total lung volumes over 7 liters. The modular system, called TIDAL, includes tunable inhalation and exhalation breathing capabilities with resting flow rates up to 30 liters per minute.

Enhanced poly(3-hydroxybutyrate-co-3-hydroxyvalerate) production from volatile fatty acids by Halomonas sp. YJ01 with 2-methylcitrate cycle.

Volatile fatty acids (VFAs) are suitable substrates for synthesizing poly(3-hydroxybutyrate-co-3-hydroxyvalerate) (PHBV), wherein propionate is a precursor of PHBV biosynthesis; however, high concentrations are toxic to bacteria. Therefore, VFAs with suitable ratio are needed. Here, with the ratio of acetate: propionate: butyrate being 1:4:2, the maximum PHBV content and the 3HV content were 46.

Correlation between obstructive sleep apnea and serum markers HIF-1, IL-6 and iNOS after lung transplantation.

Purpose: To analyze the correlation between obstructive sleep apnea (OSA) and hypoxia-inducible factor (HIF)-1, interleukin (IL)-6 and inducible nitric oxide synthase (iNOS) in patients complicated with OSA after lung transplantation. To identify serum markers of OSA after lung transplantation.

Methods: We retrospectively selected patients who planned to undergo lung transplantation between 2018 and 2020, including 25 without OSA before lung transplantation (group A), 20 with OSA after lung transplantation (group B), and 15 patients without OSA after lung transplantation (group C).

Review of the Afrotropical members of the genus Eridachtha Meyrick, 1910 (Lepidoptera: Lecithoceridae: Lecithocerinae), with descriptions of 12 new species.

The genus Eridachtha Meyrick, 1910 of the subfamily Lecithocerinae is revised for the Afrotropical region. Twelve new species are described within it: six from Kenya (Eridachtha campanella Park, sp. nov.

Artificial light-harvesting system with sequential energy transfer in photocatalytic CP coupling based on supramolecular organic framework of triphenylamine.

Porous structures exhibit an increased access surface area, thereby promoting the efficient transportation of active oxygen species. Reinforcing the development of artificial light-harvesting systems (LHSs) with porous structured supramolecular organic frameworks (SOFs) as the energy donor can significantly enhance its photocatalytic performance, thereby facilitating efficient organic transformation via photocatalysis. In this investigation, we have successfully fabricated a supramolecular organic framework (MT-SOF) composed of cucurbit[8]uril (CB[8]) and triphenylamine derivative (MeTPPA).

NINJ1 regulates plasma membrane fragility under mechanical tension.

Plasma membrane integrity is vital not only for cell survival but also nearly all aspects of cell functioning1. Mechanical stress can cause plasma membrane damage2, but it is not known whether there are large molecules (proteins) that control plasma membrane integrity. Here we constructed a 384-well cellular stretch system that delivers precise, reproducible mechanical strain to adherent cells.

Impact of Medicaid expansion under the Patient Protection and Affordable Care Act on lung cancer care in the US.

Background: Healthcare disparities significantly affect access to care and outcomes in lung cancer patients. The Patient Protection and Affordable Care Act (ACA) Medicaid expansion (ME) was enacted with the aim of improving access to quality and affordable healthcare. This study aims to determine the impact of ME on access to care and outcomes for patients with lung cancer.

Mapping and engineering RNA-controlled architecture of the multiphase nucleolus.

Biomolecular condensates are key features of intracellular compartmentalization. As the most prominent nuclear condensate in eukaryotes, the nucleolus is a layered multiphase liquid-like structure and the site of ribosome biogenesis. In the nucleolus, ribosomal RNAs (rRNAs) are transcribed and processed, undergoing multiple maturation steps that ultimately result in formation of the ribosomal small subunit (SSU) and large subunit (LSU).

Interfacial Regulation of Rice-Grain-like Iron-Nickel Phosphide Nanorods on Phosphorus-Doped Graphene Architectures as Bifunctional Electrocatalysts for Water Splitting.

The design of bimetallic metal-organic frameworks (MOFs) with a hierarchical structure is important to improve the electrocatalytic performance of catalysts due to their synergistic effect on different metal ions. In this work, the catalyst comprises bimetallic iron-nickel MOF-derived FeNi phosphides, intricately integrated with phosphorus-doped reduced graphene oxide architectures (FeNiP-C/P-rGA) through the hydrothermal and phosphating treatments. The hierarchical architecture of the catalyst is beneficial for exposing active sites and facilitating electron transfer.

Association of FOXL2 and ERCC6 variants with premature ovarian insufficiency and their potential use in clinical IVF guidance.

Premature ovarian insufficiency (POI) is the main cause of infertility in women. Some cases of POI are thought to be caused by genetic defects and the clinical outcomes of these patients are unknown. Here, we performed whole-exome sequencing of the peripheral blood of a cohort of 55 subjects with POI and identified one heterozygous missense variant in FOXL2 (c.

Integrated Thermal Proteome Profiling and Affinity Ultrafiltration Mass Spectrometry (iTPAUMS): A Novel Paradigm for Elucidating the Mechanism of Action of Natural Products.

Natural products (NPs) are foundational to drug discovery, offering a rich repertoire of molecular diversity with multifaceted modes of action against a broad array of targets. Despite their potential, deconvoluting the intricate mechanism of action (MoA) of NPs, characterized by their multicomponent, multitarget, and multilevel interactions, remains a formidable challenge. Here, we introduce an innovative pipeline called integrated thermal proteome profiling and affinity ultrafiltration mass spectrometry (iTPAUMS).

Polygenic risk score portability for common diseases across genetically diverse populations.

Background: Polygenic risk scores (PRS) derived from European individuals have reduced portability across global populations, limiting their clinical implementation at worldwide scale. Here, we investigate the performance of a wide range of PRS models across four ancestry groups (Africans, Europeans, East Asians, and South Asians) for 14 conditions of high-medical interest.

Methods: To select the best-performing model per trait, we first compared PRS performances for publicly available scores, and constructed new models using different methods (LDpred2, PRS-CSx and SNPnet).

study of p.Ala275Pro mutant causing alternating hemiplegia of childhood and rapid-onset dystonia-parkinsonism.

Introduction: We previously reported that ATP1A3 c.823G>C (p.Ala275Pro) mutant causes varying phenotypes of alternative hemiplegia of childhood and rapid-onset dystonia-parkinsonism in the same family.

A randomized study to evaluate the safety and immunogenicity of a pentavalent meningococcal vaccine.

A randomized, active-controlled, double-blind, first-in-human, phase 1 study was conducted in healthy Korean adults to evaluate the safety, tolerability, and immunogenicity of EuNmCV-5, a new pentavalent meningococcal vaccine targeting serogroups A, C, W, X, and Y. Sixty participants randomly received a single dose of either EuNmCV-5 or MenACWY-CRM, a quadrivalent vaccine containing serogroups A, C, W, and Y. Safety was assessed through monitoring anaphylactic reactions, adverse events for 28 days, and serious adverse events over 180 days.

Integrated metabolomics and proteomics analyses to reveal anticancer mechanism of hemp oil extract in colorectal cancer.

Cannabis sativa L., with a rich history in Chinese folk medicine, includes hemp strains that offer substantial economic and medical benefits due to their non-addictive properties. Hemp has demonstrated various pharmaceutical activities, including anti-inflammatory, antioxidant, and anti-tumor effects.

Retinal thickness and microvascular alterations observed by optical coherence tomography in antineutrophil cytoplasmic antibody-associated vasculitis: a cross-sectional study.

Background: As an autoimmune disease, antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) often affects multiple organs, including the ocular system. This study aims to investigate differences in retinal thickness (RT) and retinal superficial vascular density (SVD) between patients with AAV and healthy controls (HCs) using optical coherence tomography angiography (OCTA). Currently, these differences are not clear.

Bonding affinity and durability of recycled zirconia.

Statement Of Problem: While repurposing waste materials into zirconia blocks presents a promising avenue, uncertainty remains regarding whether the bonding properties of recycled zirconia align with those of commercially available zirconia.

Purpose: The purpose of this in vitro study was to evaluate the bonding affinity and durability of composite resin to recycled zirconia.

Material And Methods: A series of processing steps were performed with recycled zirconia residuals (Lava Plus; 3M Oral Care), including pulverization, sieving, heating, compaction, isostatic pressing, and presintering.

Molecular Analysis of Persistent and Recurrent Barrett's Esophagus in the Setting of Endoscopic Therapy.

Introduction: Early neoplastic progression of Barrett's esophagus (BE) is often treated with endoscopic therapy. Although effective, some patients are refractory to therapy or recur after apparent eradication of the BE. The goal of this study was to determine whether genomic alterations within the treated BE may be associated with persistent or recurrent disease.