GBA1 as a risk gene for osteoporosis in the specific populations and its role in the development of Gaucher disease.

Background: Osteoporosis and its primary complication, fragility fractures, contribute to substantial global morbidity and mortality. Gaucher disease (GD) is caused by glucocerebrosidase (GBA1) deficiency, leading to skeletal complications. This study aimed to investigate the impact of the GBA1 gene on osteoporosis progression in GD patients and the specific populations.

The Long-term Lung and Respiratory Outcomes of Acid Sphingomyelinase Deficiency: A 10- and 20-year Follow-up Study.

Background/aim: Acid sphingomyelinase deficiency (ASMD) is a rare lysosomal storage disorder characterized by sphingomyelin accumulation causing progressive lung disease, respiratory failure, and death.

Patients And Methods: This retrospective observational study used the TriNetX database of electronic health records for 15,108 patients with ASMD from 2000-2020. After exclusions, 8,980 individuals were followed for 10 or 20 years.

Changing clinical manifestations of Gaucher disease in Taiwan.

Background: Gaucher disease (GD) is a lysosomal storage disorder characterized by deficient glucocerebrosidase activity that results from biallelic mutations in the GBA1 gene. Its phenotypic variability allows GD to be classified into 3 subtypes based on the presence and extent of neurological manifestations. Enzyme replacement therapy (ERT) has been available for all patients with GD in Taiwan since 1998.

Clinical and molecular characterization of 10 Chinese children with congenital adrenal hyperplasia due to 11beta-hydroxylase deficiency.

Background: The clinical manifestations of nonclassical 11beta-hydroxylase deficiency are very similar to those of non-classical 21-hydroxylase deficiency. For this study, we investigated the relationship between the clinical and molecular features of congenital adrenal hyperplasia caused by 11beta-hydroxylase deficiency and reviewed the related literature, which are expected to provide assistance for the clinical diagnosis and analysis of congenital adrenal hyperplasia.

Methods: Clinical data for 10 Chinese patients diagnosed with congenital adrenal hyperplasia in our hospital from 2018 to 2022 were retrospectively analyzed.

Circulating circular RNA profiles associated with celiac disease seropositivity in children with type 1 diabetes.

Introduction: The frequency of celiac disease autoantibody (CDAb) positivity in type 1 diabetes (T1D) has increased due to unclear mechanisms, including autoimmune injury. Circular ribonucleic acids (circRNAs) participate in autoimmune diseases, but the roles of circRNAs in T1D with CDAbs are currently unknown. This study aimed to determine the frequency of CDAbs in Chinese children with T1D and describe the relationship between CDAbs and circRNAs.

T Cells Mediate Kidney Tubular Injury via Impaired PDHA1 and Autophagy in Type 1 Diabetes.

Context: Nephropathy is a severe complication of type 1 diabetes (T1DM). However, the interaction between the PDHA1-regulated mechanism and CD4+ T cells in the early stage of kidney tubular injury remains unknown.

Objective: To evaluate the role of PDHA1 in the regulation of tubular cells and CD4+ T cells and further to study its interaction in tubular cell injury in T1DM.

Yang cycle enzyme DEP1: its moonlighting functions in PSI and ROS production during leaf senescence.

Ethylene-mediated leaf senescence and the compromise of photosynthesis are closely associated but the underlying molecular mechanism is a mystery. Here we reported that apple DEHYDRATASE-ENOLASE-PHOSPHATASE-COMPLEX1 (MdDEP1), initially characterized to its enzymatic function in the recycling of the ethylene precursor SAM, plays a role in the regulation of photosystem I (PSI) activity, activating reactive oxygen species (ROS) homeostasis, and negatively regulating the leaf senescence. A series of Y2H, Pull-down, CO-IP and Cell-free degradation biochemical assays showed that MdDEP1 directly interacts with and dephosphorylates the nucleus-encoded thylakoid protein MdY3IP1, leading to the destabilization of MdY3IP1, reduction of the PSI activity, and the overproduction of ROS in plant cells.

Adjuvant Probiotics of subsp. AP-32, MH-68, and subsp. CP-9 Attenuate Glycemic Levels and Inflammatory Cytokines in Patients With Type 1 Diabetes Mellitus.

Introduction: Type 1 diabetes mellitus (T1DM) is characterized by autoimmune destruction of pancreatic β cells. Previous study has discovered that probiotic strains residing in the gut play essential roles in host immune regulation. However, few clinical results demonstrated probiotic would actually benefit in attenuating glycated hemoglobin (HbA1c) along with inflammatory cytokine levels of the T1DM patients and analyzed their gut microbiota profile at the same time.

Neonatal Intrahepatic Cholestasis Caused by Citrin Deficiency with Mutation Presenting Hepatic Steatosis and Prolonged Jaundice. A Rare Case Report.

: Neonatal intrahepatic cholestasis caused by citrin deficiency (NICCD) is a rare autosomal recessive disease. The incidence of citrin deficiency is estimated between 1/10,000 and 1/20,000 in Taiwan. : This report describes a case of a 42 day old female infant who suffered from prolonged jaundice, poor weight gain, and anemia.

Alström syndrome with a novel mutation of and Graves' hyperthyroidism: A case report and review of the literature.

Background: Alström syndrome (AS, OMIM ID 203800) is a rare disease involving multiple organs in children and is mostly reported in non-Chinese patients. In the Chinese population, there are few reports on the clinical manifestations and pathogenesis of AS. This is the first report on the association between AS and Graves' hyperthyroidism.

Effect of Pelvic Bone Marrow Sparing Intensity Modulated Radiation Therapy on Acute Hematologic Toxicity in Rectal Cancer Patients Undergoing Chemo-Radiotherapy.

Background: While chemo-radiotherapy improves local control in patients with locally advanced rectal cancer, it can also increase acute hematological toxicity (HT), which leads to poor outcomes. Patients receiving bone marrow radiation have been shown to develop acute HT. However, the safety and efficacy of bone marrow sparing is undetermined.

High Risk of Early Cataracts in Young Type 1 Diabetes Group: A Nationwide Cohort Study.

Background: Chronic hyperglycemia in type 1 diabetes (T1D) patients results in ocular problems over time, but only a few studies emphasized on cataracts.

Aim: To evaluate the epidemiology of cataracts in the T1D population.

Method: A two-part study was conducted using data from the National Health Insurance Research Database in Taiwan.

[Variational Trend and Characteristics of Air Pollution in Baoding City].

To understand the trends and characteristics of air pollution in Baoding in recent years, an analysis of air quality and air pollutant concentrations in Baoding from 2013 to 2018 was carried out. The results showed that: 1 from 2013 to 2018, the comprehensive index of Baoding dropped from 11.6 to 6.

A comprehensive and clinical-oriented evaluation criteria based on DVH information and gamma passing rates analysis for IMRT plan 3D verification.

Purpose: To accomplish the 3D dose verification to IMRT plan by incorporating DVH information and gamma passing rates (GPs) (DVH_GPs) so as to better correlate the patient-specific quality assurance (QA) results with clinically relevant metrics.

Materials And Methods: DVH_GPs analysis was performed to specific structures of 51 intensity-modulated radiotherapy (IMRT) treatment plans (17 plans each for oropharyngeal neoplasm, esophageal neoplasm, and cervical neoplasm) with Delta4 3D dose verification system. Based on the DVH action levels of 5% and GPs action levels of 90% (3%/2 mm), the evaluation results of DVH_GPs analysis were categorized into four regions as follows: the true positive (TP) (%DE> 5%, GPs < 90%), the false positive (FP) (%DE ≤ 5%, GPs < 90%), the false negative (FN) (%DE> 5%, GPs ≥ 90%), and the true negative (TN) (%DE ≤ 5%, GPs ≥ 90%).

Akebia trifoliata (Thunb.) Koidz Seed Extract inhibits human hepatocellular carcinoma cell migration and invasion in vitro.

Ethnopharmacological Relevance: The high recurrence rate postoperative and extensive metastases have become the obstacle of Hepatocellular Carcinoma (HCC) efficacy improvements, which contribute to most of the patient mortality. Akebia trifoliata (Thunb.) Koidz has been shown pharmacological activities in clinical and anti-HCC biological activity in previous research, but its potential function of anti-metastasis remains unknown.

The Risk of Clonal Evolution of Granulocyte Colony-Stimulating Factor for Acquired Aplastic Anemia: A Systematic Review and Meta-Analysis.

Objectives: This meta-analysis aimed to evaluate the risk of clonal evolution of granulocyte colony-stimulating factor (G-CSF) in acquired aplastic anemia (AA), and whether the use of G-CSF increases the occurrence of secondary malignant neoplasms, mainly myelodysplastic syndrome (MDS) and acute myeloid leukemia (AML) or paroxysmal nocturnal hemoglobinuria (PNH).

Methods: Data were gathered from randomized controlled trials (RCTs) to evaluate the effect of G-CSF versus no G-CSF at the risk of developing the clonal complications of acquired AA. Electronic searches in PubMed, Embase, and the Cochrane Library were performed to identify studies up to 1 January 2017.

[Effect of Osthole on Adrenocortical Function in Y1 Mouse Adrenocortical Tumor Cells].

Objective: To study the effect of osthole (Ost) on adrenocortical function in Y1 mouse adrenocortical tumor cells.

Methods: Y1 mouse adrenocortical tumor cells were taken as subjects in this experiment. In 10.

Association between occupational stressors and type 2 diabetes among Chinese police officers: a 4-year follow-up study in Tianjin, China.

Purpose: To explore the relationship between occupational stressors and the incidence of type 2 diabetes mellitus among police officers.

Methods: Baseline data were collected from policemen who completed the Occupational Stress Inventory-Revised (OSI-R) questionnaire, a self-designed questionnaire, and underwent free clinical measurements at the Medical Center of Police Hospital in Tianjin, China, in April 2007. A total of 5811 policemen participated in follow-up with the dynamic observation of new-onset diabetes (NOD) events occurring annually between 2008 and 2011.

Akebia trifoliate (Thunb.) Koidz Seed Extract Inhibits the Proliferation of Human Hepatocellular Carcinoma Cell Lines via Inducing Endoplasmic Reticulum Stress.

Akebia Fructus has long been used for hepatocellular carcinoma (HCC) in China, while the molecular mechanism remains obscure. Our recent work found that Akebia trifoliate (Thunb.) Koidz seed extract (ATSE) suppressed proliferation and induced endoplasmic reticulum (ER) stress in SMMC-7721.

Drug-in-cyclodextrin-in-liposomes: a promising delivery system for hydrophobic drugs.

Introduction: Recently, the entrapment of hydrophobic drugs in the form of water-soluble drug-cyclodextrin (CD) complex in liposomes has been investigated as a new strategy to combine the relative advantages of CDs and liposomes into one system, namely drug-in-CD-in-liposome (DCL) systems.

Areas Covered: For DCLs preparation, an overall understanding of the interaction between CDs and lipid components of liposomes is necessary and valuable. The present article reviews the preparation, characterization and application of DCLs, especially as antitumor or transdermal carriers.

Skin permeation behavior of elastic liposomes: role of formulation ingredients.

Introduction: With the incorporation of edge activators into the lipid bilayer structure, elasticity properties are given to liposomes. Regardless of the debate over the precise permeation mechanism of elastic liposomes, these vesicles have been proven to enhance drug permeation into or through skin in most cases.

Areas Covered: This article provides an overview of the formulation ingredients of elastic liposomes and their relationship with skin permeation behavior.

[The short term therapeutic effects of radioactive (125)I seeds implantation for treatment of non-small-cell lung cancer].

Objective: To explore influential factors of local therapeutic effect in CT guided brachytherapy of (125)I seeds for non-small-cell lung carcinoma (NSCLC).

Methods: Totally 141 primary NSCLC patients diagnosed by bronchoscope or puncture biopsy were treated with CT guided (125)I seeds implantation treatment from 2003 January to 2005 January. Among them, 26 patients were treated with seeds implantation only and remaining 115 combined with chemical therapy.

[Analysis of the dynamic changes of blood hormone levels in H22 liver cancer mice of poisonous pathogenic factors syndromes to different degrees].

Objective: To study the dynamic changes of blood hormone levels in H22 liver cancer mice of poisonous pathogenic factors syndromes (PPFS) to different degrees.

Methods: Two hundred and twenty mice were injected with H22 tumor cells from their armpits. On the ninth day after inoculation the mice of severe poisonous pathogenic factors syndrome (SPPFS) and of mild poisonous pathogenic factors syndrome (MPPFS) were screened.

[The correlation between adrenal corticosteroids and cytokines expressions in mice of different syndromes].

Objective: To study the cytokines expressions in the adrenal gland and its correlation with serum adrenal corticosteroids in mice of different syndromes.

Methods: Using the quantitative four diagnosis and syndrome differentiation methods, 60 normal mice and 190 H22 liver cancer bearing mice were syndrome typed. Serum corticosterone and aldosterone were tested by ELISA, and mRNA expressions of cytokines in the adrenal gland were detected using Real-time PCR.