Abdominal pain as a novel manifestation in children with PCDH19-related epilepsy: A case report.

Rationale: PCDH19-related epilepsy manifested various clinical features, including febrile epilepsy, with or without intellectual disability, and psych-behavioral disorders. However, there are few studies demonstrating abdominal pain as the first symptom.

Patient Concerns: A 3-year-old Chinese girl presented with clustered seizures of fever sensitivity accompanied by abdominal pain.

[Analysis of FBN1 gene mutations in six Chinese pedigrees affected with Marfan syndrome].

Objective: To determine the types of genetic variants in six Chinese pedigrees affected with Marfan syndrome (MFS) and analyze their clinical characteristics and molecular pathogenesis.

Methods: Six MFS pedigrees presented at the Taizhou Enze Medical Center (Group) between 2017 and 2022 were selected as the study subjects. Clinical data of pedigrees were retrospectively analyzed.

Functional study of three cases with novel TBX19 variants.

Purpose: Congenital isolated adrenocorticotropic hormone deficiency (CIAD) is an autosomal recessive disorder. This study identifies novel TBX19 variants for CIAD patients, explores its possible effect mechanism at the structural, functional and protein levels, and guides clinicians better understand the condition.

Methods: The clinical characteristics of three CIAD children were summarized.

Detection of PD-L1 expression levels in malignant pleural mesothelioma with a targeted MRI nanoprobe .

Objectives: Immune checkpoint inhibitors (ICIs) have demonstrated potential in inhibiting the growth of malignant pleural mesothelioma (MPM), and their efficacy is associated with the expression of programmed death-ligand 1(PD-L1). This study evaluated a PD-L1-targeted nanoprobe for detecting PD-L1 expression in a nude mouse model of malignant pleural mesothelioma (MPM).

Methods: A PD-L1-binding peptide (WL-12) was conjugated with superparamagnetic iron oxide nanoparticles (SPIONs) to create the nanoprobe WL-12@Fe₃O₄.

Bereaved Family Quality of Life Varies With Comorbid Psychological Distress and ICU-Care Quality.

Context: Health-related quality of life (HRQOL) is highly endorsed, but HRQOL studies scarcely investigate the following: ICU family members; modifiable end-of-life (EOL) ICU-care factors; conjoint associations with prolonged grief disorder (PGD), post-traumatic stress disorder (PTSD), and depression; and long-term bereavement outcomes.

Objectives: Exploratorily investigate associations of PGD-PTSD-depressive-symptom states (resilient, subthreshold-depression dominant, PGD dominant, and PGD-PTSD-depression comorbid) and quality of EOL ICU care with families' HRQOL 6-24 months post loss.

Methods: This cohort study examined symptoms of PGD (11 items of the PG-13), PTSD (Impact of Event Scale-Revised), and depression (Hospital Anxiety and Depression Scale), and HRQOL (Medical Outcomes Study 36-Item Short-Form Health Survey) among 303 ICU family members.

Minibioreactor arrays to model microbiome response to alcohol and tryptophan in the context of alcohol-associated liver disease.

The intestinal microbiota (IM) plays a role in the severity of alcohol-associated liver disease. Modifying severe alcohol-associated hepatitis (AH) dysbiosis improves liver injury through tryptophan (Trp) metabolites and the aryl hydrocarbon receptor (AhR). However, Trp's effect on the IM in alcohol use disorder (AUD) patients remains unclear.

[Clinical and genetic characteristics of children with Pitt-Hopkins syndrome caused by TCF4 gene variants].

The clinical data of children with Pitt-Hopkins syndrome (PTHS) who were treated in the Affiliated Women and Children's Hospital of Ningbo University from September 2022 to January 2024 were retrospectively included. The patients were followed up to June 2024, and their clinical and genetic characteristics were analyzed. A total of 4 children were included, 2 males and 2 females, with a diagnostic age [M (Q, Q)] of 22 (10, 32) months.

Immune Indicator Changes in Hepatocellular Carcinoma Undergoing TACE Plus ICIs and Anti-VEGF Antibodies/TKIs: A Prognostic Biomarker Analysis.

Objective: To explore changing trends in circulating immune indicators of hepatocellular carcinoma (HCC) undergoing TACE plus immune checkpoint inhibitors (ICIs) and anti-VEGF antibodies/TKIs and to elucidate the relationship between immune response and tumor prognosis.

Materials: This single-center retrospective study included patients with unresectable HCC undergoing TACE plus ICIs and anti-VEGF antibodies/TKIs from March 11, 2019, to February 15, 2024. Peripheral blood samples were collected at baseline and every cycle, from which blood cell counts and immune indicators were analyzed.

Hydraulic traits exert greater limitations on tree-level maximum sap flux density than photosynthetic ability: Global evidence.

Transpiration is a key process that couples the land-atmosphere exchange of water and carbon, and its maximum water transport ability affects plant productivity. Functional traits significantly influence the maximum transpiration rate; however, which factor plays the dominant role remains unknown. SAPFLUXNET dataset, which includes sap flux density of diverse species worldwide, provides fundamental data to test the importance of photosynthetic and hydraulic traits on maximum tree-level sap flux density (J).

Accumulation of 3-Monochloro-Propanediol Esters in Kidney Tissues of Patients with Human Renal Cell Carcinoma.

Background: 3-Monochloro-propanediol esters (3-MCPDEs), commonly found in refined edible oils and related products, have generated concerns due to their nephrotoxicity and carcinogenicity, yet clinical evidence remains limited.

Objectives: In this study, we aimed to assess, for the first time, the accumulation of 3-MCPDEs in human kidney tissues, focusing on 68 participants, some with and others without renal cell carcinoma (RCC).

Methods: An analytical method for 3-MCPDE determination in kidney tissues underwent partial validation to ensure its suitability for sample analysis.

[Clinical and genetic analysis of a Chinese pedigree affected with type 2 Long QT syndrome due to variant of KCNH2 gene].

Objetive: To explore the clinical and genetic etiology of a Chinese pedigree affected with type 2 Long QT syndrome (LQTS).

Methods: A pedigree with type 2 LQTS presented at Fuwai Central China Cardiovascular Hospital on August 23, 2019 was selected as the study subject. Peripheral blood samples were collected from the proband and her parents.

Trastuzumab Deruxtecan after Endocrine Therapy in Metastatic Breast Cancer.

Background: Outcomes in patients with hormone receptor-positive metastatic breast cancer worsen after one or more lines of endocrine-based therapy. Trastuzumab deruxtecan has shown efficacy in patients with metastatic breast cancer with low expression of human epidermal growth factor receptor 2 (HER2) after previous chemotherapy.

Methods: We conducted a phase 3, multicenter, open-label trial involving patients with hormone receptor-positive metastatic breast cancer with low HER2 expression (a score of 1+ or 2+ on immunohistochemical [IHC] analysis and negative results on in situ hybridization) or ultralow HER2 expression (IHC 0 with membrane staining) who had received one or more lines of endocrine-based therapy and no previous chemotherapy for metastatic breast cancer.

Characteristics of Rhizosphere Microbiome, Soil Chemical Properties, and Plant Biomass and Nutrients in cv. Shatangju Exposed to Increasing Soil Cu Levels.

The prolonged utilization of copper (Cu)-containing fungicides results in Cu accumulation and affects soil ecological health. Thus, a pot experiment was conducted using cv. Shatangju with five Cu levels (38, 108, 178, 318, and 388 mg kg) to evaluate the impacts of the soil microbial processes, chemistry properties, and citrus growth.

ZCCHC8 p.P410A disrupts nucleocytoplasmic localization, promoting idiopathic pulmonary fibrosis and chronic obstructive pulmonary disease.

Background: Idiopathic pulmonary fibrosis (IPF) is a special kind of chronic interstitial lung disease with insidious onset. Previous studies have revealed that mutations in ZCCHC8 may lead to IPF. The aim of this study is to explore the ZCCHC8 mutations in Chinese IPF patients.

Prochloraz induced alterations in the expression of mRNA in the reproductive system of male offspring mice.

Prochloraz is a widely used fungicide worldwide. It is classified as an endocrine disrupting pesticide that affects the reproductive system. This study aimed to examine the impact of exposure to prochloraz of male mice on the reproductive system of their offspring male mice.

The negative association between the docosapentaenoic acid intake and the incidence of AMD based on NHANES 2005-2008.

Introduction: Age-related macular degeneration (AMD) is an ophthalmic disease that causes visual impairment and is one of the leading causes of blindness in the elderly. Fatty acids are essential nutrients required by the body and play a cornerstone role in the life activities of the body. Many studies have reported that fatty acids are involved in the development of AMD.

Single-cell multi-omic and spatial profiling of human kidneys implicates the fibrotic microenvironment in kidney disease progression.

Kidneys are intricate three-dimensional structures in the body, yet the spatial and molecular principles of kidney health and disease remain inadequately understood. We generated high-quality datasets for 81 samples, including single-cell, single-nuclear, spot-level (Visium) and single-cell resolution (CosMx) spatial-RNA expression and single-nuclear open chromatin, capturing cells from healthy, diabetic and hypertensive diseased human kidneys. Combining these data, we identify cell types and map them to their locations within the tissue.

Single-Cell RNA Sequencing Analysis of Steroidogenesis and Spermatogenesis Impairment in the Testis of db/db Mice.

Objective: The mechanism of steroidogenesis and spermatogenesis impairment in men with type 2 diabetes remains unclear. We aimed to explore the local changes of steroidogenesis and spermatogenesis in the testis of db/db mice. .

A common polymorphism in the Intelectin-1 gene influences mucus plugging in severe asthma.

By incompletely understood mechanisms, type 2 (T2) inflammation present in the airways of severe asthmatics drives the formation of pathologic mucus which leads to airway mucus plugging. Here we investigate the molecular role and clinical significance of intelectin-1 (ITLN-1) in the development of pathologic airway mucus in asthma. Through analyses of human airway epithelial cells we find that ITLN1 gene expression is highly induced by interleukin-13 (IL-13) in a subset of metaplastic MUC5AC mucus secretory cells, and that ITLN-1 protein is a secreted component of IL-13-induced mucus.