Safety and efficacy of stoma site selection in CT-guided percutaneous gastrostomy: a retrospective analysis.

Purpose: To compare the safety and efficacy of CPG in the rectus abdominis and intercostal regions.

Materials And Methods: This retrospective study included 226 patients who underwent CPG at a single center, with the stoma placed in the rectus abdominis or intercostal region. Surgical outcomes and complications, such as pain and infection within 6 months postoperatively, were recorded.

Iodine-125 brachytherapy for a desmoid tumor in the abdomen-thorax: A retrospective study.

Purpose: To investigate the safety and efficacy of iodine-125 seed implantation in the treatment of abdomen-thorax desmoid tumors (DTs).

Methods And Materials: Data from 14 DT patients who received brachytherapy with iodine-125 seeds were retrospectively collected from 2014 to 2020. The operation was completed using CT guidance and the treatment plan system (TPS).

I Radioactive Particles Drive Protective Autophagy in Hepatocellular Carcinoma by Upregulating ATG9B.

Background And Aims: I radioactive particles implantation have demonstrated efficacy in eradicating hepatocellular carcinoma (HCC). However, progressive resistance of HCC to I radioactive particles has limited its wide clinical application.

Methods: We investigated the cellular responses to I radioactive particles treatment and autophagy-related 9B (ATG9B) silencing in HCC cell lines and Hep3B xenografted tumor model using Cell Counting Kit-8 reagent, western blotting, immunofluorescence, flow cytometry, transmission electron microscopy and immunohistochemistry.

Two Chinese siblings of combined oxidative phosphorylation deficiency 14 caused by compound heterozygous variants in FARS2.

Background: As a rare mitochondrial disease, combined oxidative phosphorylation deficiency 14 (COXPD14) is caused by biallelic variants in the phenylalanyl-tRNA synthetase 2, mitochondrial gene (FARS2) with clinical features of developmental delay, an elevated lactate level, early-onset encephalopathy, liver failure, and hypotonia. The objectives of this study were to analyze the clinical and molecular features of two Chinese siblings affected with COXPD14, and to review relevant literature.

Methods: Mutation screening was performed by whole exome sequencing (WES) in combination with Sanger sequencing validation to identify the disease-causing variants of the two patients.

Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism.

Background: Congenital hypothyroidism (CH) is a common neonatal endocrine disorder, characterized by irreversible intellectual disability and short stature if left untreated. It can be divided into thyroid dysgenesis (TD), including athyreosis, ectopy and hypoplasia, and dyshormonogenesis (DH), also referring to gland in situ (GIS), in which patients have eutopic thyroids with normal size or goiter. This study aims to analyze the clinical and genetic data of 375 Chinese CH patients without DUOX2 and thyroid transcription factor (TTF) variants, and to explore the mutation frequencies of the eight genes and the inheritance pattern of CH.

Measurement of the Correlation Degree between Rural Family Fertility Willingness and the Development of China's Labor Original Equipment Manufacturing Industry.

At present, China is facing problems such as the decline of fertility rate, gender imbalance, serious aging, and the reduction of youth and working population, which will have an adverse impact on the long-term development of social economy. Based on the literature review, combined with China's financial family data, combined with the innovative calculation model of the correlation between rural family fertility willingness and labor original equipment manufacturing (OEM) industrial development, through the empirical analysis of rural families, this paper investigates the relationship between fertility willingness and the development and endogeneity of labor OEM industry and finds that female labor participation has a significant negative impact on the number of children in rural families. Spouse labor participation has a negative effect on the number of children in rural families.

The first Chinese case of Vici syndrome with novel compound heterozygous sequence variants in EPG5.

Background: Vici syndrome (VICIS) refers to a clinical spectrum of multiple organ systems characterized by corpus callosum agenesis, hypopigmentation, cataracts, cardiomyopathy and immunodeficiency. The aims of this study were to describe detailed clinical and molecular features of two Chinese female siblings and to review several previous findings.

Methods: Targeted sequencing panel involving all known disease-causing genes of monogenic disorders combined with Sanger sequencing validation were performed to identify the likely pathogenic sequence variants of the proband with VICIS.

A Novel Homozygous Splice-Site Mutation Causing the Skipping of Exon 38 in a Chinese Family With Cohen Syndrome.

Cohen syndrome (CS) is a clinically heterogeneous disorder characterized by extensive phenotypic variation with autosomal recessive inheritance. was identified to be the disease-causing gene for CS. The objectives of the present study were to screen likely pathogenic mutations of the patient with developmental delay and mental retardation, and to determinate the effect of this splice-site mutation by reverse transcription analysis.

Molecular and clinical characteristics of congenital hypothyroidism in a large cohort study based on comprehensive thyroid transcription factor mutation screening in Henan.

Background: Congenital hypothyroidism (CH), the most common neonatal endocrine disorder worldwide, can be caused by variants in thyroid transcription factor (TTF) genes including NKX2-1, FOXE1, PAX8, NKX2-5 and HHEX. This study aims to perform targeted next-generation sequencing (NGS) panel for comprehensive mutation screening on these genes in a cohort of 606 CH patients with various types from Henan Province, China, to investigate the mutation rate of TTF genes, and to analyze the clinical, biochemical and molecular characteristics of our CH cohort.

Methods: High-throughput sequencing combined with statistical calculation were applied for mutation screening and analyses of the clinical data.

Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.

Background: The dysferlin gene or the DYSF gene encodes the Ca -dependent phospholipid-binding protein dysferlin, which belongs to the ferlin family and is associated with muscle membrane regeneration and repair. Variants in the DYSF gene are responsible for limb-girdle muscular dystrophy type 2B (LGMD2B), also called limb-girdle muscular dystrophy recessive 2 (LGMDR2), a rare subtype of muscular dystrophy involving progressive muscle weakness and atrophy. The present study aimed to identify the variants responsible for the clinical symptoms of a Chinese patient with limb girdle muscular dystrophies (LGMDs) and to explore the genotype-phenotype associations of LGMD2B.

Identification and analyzes of DUOX2 mutations in two familial congenital hypothyroidism cases.

Background: Mutations in DUOX2 are the frequent cause of congenital hypothyroidism (CH), a common neonatal metabolic disorder characterized by great phenotypic variability. CH can be traditionally subclassified into two subtypes: thyroid dysgenesis (TD) and thyroid dyshormonogenesis. The objectives of this study were to analyze the genetic data of two familial CH cases, to elucidate the pathogenesis from the perspective of genetics and to review and summarize the previous findings.

Targeted regions sequencing identified four novel PNPLA1 mutations in two Chinese families with autosomal recessive congenital ichthyosis.

Background: Autosomal recessive congenital ichthyosis (ARCI) is a rare genetically heterogeneous cutaneous disease predominantly characterized by erythroderma, generalized abnormal scaling of the whole body and a collodion membrane at birth. Numerous causative genes have been demonstrated to be responsible for ARCI including PNPLA1 which can cause ARCI type 10. The objectives of this study are to describe clinical features of three ARCI patients from two Chinese unrelated families and to identify the underlying causative mutations.

A novel ATRX mutation causes Smith‑Fineman‑Myers syndrome in a Chinese family.

Smith‑Fineman‑Myers syndrome (SFMS) is a rare inherited disorder characterized mainly by mental retardation and anomalies in the appearance of patients. SFMS is caused by a mutation in the α‑thalassemia/mental retardation syndrome X‑linked (ATRX) gene and has an X‑linked recessive pattern. In the present study, a novel ATRX mutation was identified, and the association between its genotype and the phenotype was explored in a Chinese Han family with SFMS.

Whole exome sequencing reveals two novel compound heterozygous mutations in TWNK as a cause of the hepatocerebral form of mitochondrial DNA depletion syndrome: a case report.

Background: Although Mitochondrial DNA depletion syndrome (MDS) can be classified into three forms: myopathic, encephalomyopathic and hepatocerebral form, it is difficult to identify its form due to its clinical heterogeneity. Therefore, it is very important to conduct molecular genetic analysis on suspected patients. This study presented a male 38 weeks and 5 days infant with liver cytolysis and leukodystrophy.

Clinical efficacy of computed tomography-guided iodine-125 seed implantation therapy for patients with metastatic epidural spinal cord compression: A retrospective study.

Background: This study evaluated the clinical efficacy of computed tomography (CT)-guided radioactive iodine-125 ( I) seed implantation in patients with metastatic epidural spinal cord compression (MESCC).

Materials And Methods: A cohort of 22 patients with MESCC were retrospectively enrolled. All patients underwent CT-guided I seed implantation therapy via standard procedures.

A Novel Mutation Associated with X-Linked Hyper IgM Syndrome in a Chinese Family.

: Mutations in CD40 ligand gene () affecting immunoglobulin class-switch recombination and somatic hypermutation can result in X-Linked Hyper IgM Syndrome (HIGM1, XHIGM), a kind of rare serious primary immunodeficiency disease (PID) characterized by the deficiency of IgG, IgA and IgE and normal or increased serum concentrations of IgM. The objective of this study is to explain genotype-phenotype correlation and highlight the mutation responsible for a Chinese male patient with XHIGM.: Whole exome sequencing (WES) and Sanger sequencing validation were performed to identify and validate the likely pathogenic mutation in the XHIGM family.

Photocatalytic Activation of Saturated C-H Bond Over the CdS Mixed-Phase Under Visible Light Irradiation.

Selective activation of saturated C-H bond in hydrocarbons to produce high-value-added chemicals is of great significance for chemical synthesis and transformation. Herein, we present a facile procedure to achieve Ni-doped CdS nanoparticles with mixed (cubic and hexagonal) phases, as well as its application to the photocatalytic activation of saturated primary C-H bond of toluene and its derivatives. The photocatalytic oxidation rate of toluene into benzaldehyde of formation reached up to 216.

[Is 18F-PET-CT the First Choice for Preoperative Screening for Ia Non-small Cell Lung Cancer?].

Background: The preferred therapy for patients with pulmonary nodules which highly suspected as lung cancer by low-dose spiral computed tomography (CT) is surgery, but the best screening method of whole body is not clear yet. The aim of this study is to investigate the differences in the progression-free survival (PFS) of patients with Ia stage non-small cell lung cancer after screening of positron emission computed tomography (PET)-CT and conventional imaging (B-ultrasound/CT/MRI/ECT, BCME).

Methods: A total of 300 cases of Ia stage non-small cell lung cancer were collected, of which 170 cases were performed PET-CT and 130 cases were performed BCME before operation.

Assessment of the cancer risk factors of solitary pulmonary nodules.

There are no large samples or exact prediction models for assessing the cancer risk factors of solitary pulmonary nodules (SPNs) in the Chinese population. We retrospectively analyzed the clinical and imaging data of patients with SPNs who underwent computer tomography guided needle biopsy in our hospital from Jan 1st of 2011 to March 30th of 2016. These patients were divided into a development data set and a validation data set.