Relationships between Secreted Aspartyl Proteinase 2 and General Control Nonderepressible 4 gene in the Candida albicans resistant to itraconazole under planktonic and biofilm conditions.

This study aimed to explore the roles of SAP2 and GCN4 in itraconazole (ITR) resistance of C. albicans under different conditions, and their correlations. A total of 20 clinical strains of C.

[Analysis of KIF1A gene variant in a Chinese pedigree affected with Spastic paraplegia type 30].

Objective: To explore the genetic basis for a Chinese pedigree affected with hereditary spastic paraplegia type 30 (HSP30).

Methods: A proband presented at the Second Hospital of Shanxi Medical University in August 2021 was selected as the study subject. The proband was subjected to whole exome sequencing, and candidate variant was verified by Sanger sequencing and bioinformatic analysis.

Correlation between and in clinical strains of at planktonic and biofilm states.

This study aimed to explore the influences of and on itraconazole (ITR) resistance of at different states. A total of 10 ITR-resistant strains and 10 ITR-sensitive strains were used for sequencing and sequencing. sequencing showed no missense mutation, and three synonymous mutations.

Case Report: A Missense Mutation in Dyskeratosis Congenita 1 Leads to a Benign Form of Dyskeratosis Congenita Syndrome With the Mucocutaneous Triad.

Background: Dyskeratosis congenita (DC) is a rare inheritable disorder characterized by bone marrow failure and mucocutaneous triad (reticular skin pigmentation, nail dystrophy, and oral leukoplakia). Dyskeratosis congenita 1 () is responsible for 4.6% of the DC with an X-linked inheritance pattern.

Genetic and functional analyses detect an EXT1 splicing pathogenic variant in a Chinese hereditary multiple exostosis (HME) family.

Background: Hereditary multiple exostosis (HME) is an autosomal dominant skeletal disorder characterized by the development of multiple cartilage-covered tumors on the external surfaces of bones (osteochondromas). Most of HME cases result from heterozygous loss-of-function mutations in EXT1 or EXT2 gene.

Methods: Clinical examination was performed to diagnose the patients: Whole exome sequencing (WES) was used to identify pathogenic mutations in the proband, which is confirmed by Sanger sequencing and co-segregation analysis: qRT-PCR was performed to identify the mRNA expression level of EXT1 in patient peripheral blood samples: minigene splicing assay was performed to mimic the splicing process of EXT1 variants in vitro.

[Identification of a novel SOD1 variant in a Chinese patient with amyotrophic lateral sclerosis].

Objective: To explore the genetic basis for a Chinese patient with amyotrophic lateral sclerosis (ALS).

Methods: Peripheral blood samples were collected from the patient and his parents for the extraction of genomic DNA. Genetic variant was identified by whole exome sequencing.

[Analysis of PKD2 gene variant and protein localization in a pedigree affected with polycystic kidney disease].

Objective: To detect the mutation site in a pedigree affected with autosomal dominant polycystic kidney disease (ADPKD) and verify its impact on the protein function.

Methods: Peripheral blood samples were collected from the proband and his pedigree members for the extraction of genomic DNA. Mutational analysis was performed on the proband through whole-exome sequencing.

A novel splicing pathogenic variant in COL1A1 causing osteogenesis imperfecta (OI) type I in a Chinese family.

Background: Osteogenesis imperfecta (OI), a rare autosomal inheritable disorder characterized by bone fragility and skeletal deformity, is caused by pathogenic variants in genes impairing the synthesis and processing of extracellular matrix protein collagen type I. With the use of next-generation sequencing and panels approaches, an increasing number of OI patients can be confirmed and new pathogenic variants can be discovered. This study sought to identify pathogenic gene variants in a Chinese family with OI I.

Preliminary evaluation and discussion of the safety of left innominate vein resection.

Background: To evaluate the safety of resection of anterior mediastinal lesions involving the left innominate vein (LIV) and analyze the risk factors affecting LIV resection safety.

Methods: Patients who underwent anterior mediastinal lesion and LIV resection from January 2010 to December 2018 in the Department of Thoracic Surgery of Tangdu Hospital, Air Force Medical University, were followed up, and preoperative, intraoperative and postoperative factors were analyzed.

Results: Forty-eight patients who underwent anterior mediastinal lesion and LIV resection from January 2010 to December 2018, except for 2 who died of lung infection-induced respiratory failure, were followed up, with an average follow-up time of 32 months (range, 6-72 months).

Identification of a novel compound heterozygous IDUA mutation underlies Mucopolysaccharidoses type I in a Chinese pedigree.

Background: Mucopolysaccharidosis type I (MPS I) is a rare autosomal storage disorder resulting from the defective alpha-L-iduronidase (encoded by IDUA) enzyme activity and accumulation of glycosaminoglycans (GAGs) in lysosomes. So far, more than 100 IDUA causative mutations have been identified leading to three MPS I phenotypic subtypes: Hurler syndrome (severe form), Hurler/Scheie syndrome (intermediate form), and Scheie syndrome (mild form).

Methods: Whole-exome sequencing (WES) was performed to identify the underlying genetic mutations.

Functional evaluation of a novel GLA causative mutation in Fabry disease.

Background: Fabry disease (FD), a rare X-linked α-galactosidase A (GLA) deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide in a variety of cell types. More and more disease-causing mutations in GLA have been identified in FD due to the advancement of molecular diagnostic tools. We found a novel mutation in a Chinese family with predominant Fabry's disease nephropathy.

[Instability of Mitochondrial DNA D-loop Region Genes in Patients with Leukemia].

Objective: To study the instability of mitochondrial DNA（mt DNA） D-loop region genes in patients with Leukemia.

Methods: The HV-1 and HV-2 regions of D-loop region in 24 patients with leukemia were amplificated and sequenced, then their results were compared with revised Cambridge reference sequence (rCRS) and Databank mtDB. The mutation rate was detected by SPSS 22.

A Novel α-Galactosidase A Splicing Mutation Predisposes to Fabry Disease.

Fabry disease (FD) is a rare X-linked α-galactosidase A () deficiency, resulting in progressive lysosomal accumulation of globotriaosylceramide (Gb3) in a variety of cell types. Here, we report a novel splicing mutation (c.801 + 1G > A) that results in alternative splicing in of a FD patient with variable phenotypic presentations of renal involvement.

GJB2 c.235delC variant associated with autosomal recessive nonsyndromic hearing loss and auditory neuropathy spectrum disorder.

Autosomal recessive nonsyndromic hearing loss (ARNSHL) is a genetically heterogeneous neurosensory disorder, usually characterized by congenital or prelingual hearing loss. We report a Han Chinese male, born to consanguineous parents, presenting with nonsyndromic sensorineural hearing loss, whose clinical phenotype was also consistent with auditory neuropathy spectrum disorder (ANSD). After exome sequencing, a gap junction protein beta 2 gene (GJB2) c.

Knockdown of MALAT1 expression inhibits HUVEC proliferation by upregulation of miR-320a and downregulation of FOXM1 expression.

Regulation of cancer angiogenesis could be a useful strategy in cancer therapy. Metastasis-associated lung adenocarcinoma transcript 1 (MALAT1) is a long non-coding RNA (lncRNA), and can induce cancer cell proliferation, while lncRNAs, generally are able to act as microRNA (miRNA) sponges. The latter is a type of competitive endogenous RNA (ceRNA) that regulates expression of the targeting miRNAs and protein-coding genes.

A novel surgical method for acquired non-malignant complicated tracheoesophageal and bronchial-gastric stump fistula: the "double patch" technique.

Background: To manage the acquired benign complicated tracheoesophageal fistula (TEF) and bronchial-gastric stump fistula (BGSF) are clinical technical challenge. The purpose of this study is to retrospectively review a surgical "double patch" technique in treating nonmalignant complicated TEF and BGSF, and then clarify the long-term curative effect of the technique.

Methods: Clinical records of 30 patients with non-malignant complicated TEF and BGSF treated by "double patch" technique in Tangdu Hospital between August 2004 and August 2014, were analyzed and summarized retrospectively.

Effect of cauterizing esophageal mucosa in "double-patch" treatment for acquired benign tracheoesophageal fistula/bronchogastric stump fistula.

Background: The management of acquired benign tracheoesophageal fistula (TEF) and bronchogastric stump fistula (BGSF) is a challenge. This study aimed to assess the "double-patch" technique with or without esophageal mucosa in treating nonmalignant TEF and BGSF.

Materials And Methods: We established a dog model with TEF by incising the esophageal and tracheal membranes and suturing them together.

Assessment of epidermal growth factor receptor mutation/copy number and K-ras mutation in esophageal cancer.

Background: The molecular status of epidermal growth factor receptor (EGFR) in esophageal cancer has not been well elucidated. The purpose of the study was to investigate the prevalence of EGFR and K-ras mutation, and EGFR gene copy number status as well as its association with clinicopathologic characteristics, and also to identify the prognostic value of EGFR gene copy number in esophageal cancer.

Methods: EGFR mutation in exon 19/exon 21 and K-ras mutation in codon 12/codon 13 were detected by real-time PCR method, while EGFR gene copy number status was analyzed by fluorescent in situ hybridization (FISH).

High ABCG4 Expression Is Associated with Poor Prognosis in Non-Small-Cell Lung Cancer Patients Treated with Cisplatin-Based Chemotherapy.

ATP-binding cassette (ABC) transporters are associated with poor response to chemotherapy, and confer a poor prognosis in various malignancies. However, the association between the expression of the ABC sub-family G member 4 (ABCG4) and prognosis in patients with non-small-cell lung cancer (NSCLC) remains unclear. NSCLC tissue samples (n = 140) and normal lung tissue samples (n = 90) were resected from patients with stage II to IV NSCLC between May 2004 and May 2009.

[Correlations of integrons and resistance gene cassettes in Gram-negative bacteria with multi-drug resistance].

Objective: To explore the correlations of integrons, gene cassettes and drug resistance phenotypes in 90 multi-drug resistant Gram-negative bacteria.

Methods: Class I/II/III integron and variable region of positive strains of 90 Gram-negative bacteria were amplified by PCR and types of integron variable region gene cassettes analyzed by DNA sequence. And the resistant rates of integron positive and negative strains were tested by drug susceptibility.

EGFR mutations in surgically resected fresh specimens from 697 consecutive Chinese patients with non-small cell lung cancer and their relationships with clinical features.

We aimed to reveal the true status of epidermal growth factor receptor (EGFR) mutations in Chinese patients with non-small cell lung cancer (NSCLC) after lung resections. EGFR mutations of surgically resected fresh tumor samples from 697 Chinese NSCLC patients were analyzed by Amplification Refractory Mutation System (ARMS). Correlations between EGFR mutation hotspots and clinical features were also explored.

[Screening for EXT1 and EXT2 gene mutations in a ethnic Han Chinese family from Shanxi with hereditary multiple exostoses].

Objective: To screen for potential mutations in an ethnic Han Chinese family from Shanxi with hereditary multiple exostoses.

Methods: Polymerase chain reaction and DNA sequencing were used to screen potential mutations in EXT1 and EXT2 genes.

Results: For EXT1 gene, two synonymous mutations (P477P and E587E), three intronic mutations (c.

Mutations of the phenylalanine hydroxylase gene in patients with phenylketonuria in Shanxi, China.

The variation in mutations in exons 3, 6, 7, 11 and 12 of the phenylalanine hydroxylase (PAH) gene was investigated in 59 children with phenylketonuria (PKU) and 100 normal children. Three single nucleotide polymorphisms were detected by sequence analysis. The mutational frequencies of cDNA 696, cDNA 735 and cDNA 1155 in patients were 96.

[Detection of exon 7 mutations of PAH gene in classical phenylketonuria by high-resolution melting analysis].

Objective: To establish a simple, rapid, inexpensive and sensitive method for detecting hot region for mutations in exon 7 of PAH gene.

Methods: High-resolution melting (HRM) technology was used to detect a c.728G>A mutation in exon 7 in 88 patients with classical type phenylketonuria.