Pulmonary alveolar proteinosis complicated with tuberculosis: A case report.

Background: Pulmonary alveolar proteinosis (PAP) is a rare lung disease characterized by the accumulation of phospholipoproteinaceous material in the alveoli. Cases of PAP complicated with tuberculosis are much more complex and have rarely been well recorded.

Case Summary: We describe a 21-year-old Han Chinese patient with suspicious lung infection associated with mild restrictive ventilatory dysfunction and diffusion reduction.

Prospective study of ALDH1A1 gene polymorphisms associated with antituberculosis drug-induced liver injury in western Chinese Han population.

Antituberculosis drug-induced liver injury (ATDILI) has received increasing attention globally, which may limit the effectiveness of antituberculosis (anti-TB) treatment. Many host genetic determinants of ATDILI have been identified recently. As little knowledge is currently available about the association between aldehyde dehydrogenase 1 family member A1 (ALDH1A1) polymorphisms and ATDILI, the association between their variants and the susceptibility to ATDILI was investigated.

genetic polymorphisms are associated with tuberculosis susceptibility and clinical phenotype in a Western Chinese Han population.

Tuberculosis (TB) is one of the most common infectious diseases globally. The surfactant protein C (SFTPC), which is involved in innate immunity and surfactant function in the lung, may contribute toward the progression of TB. The aim of the present study was to preliminarily investigate the possible association of single nucleotide polymorphisms (SNPs) in the gene with TB susceptibility and clinical phenotypes in a Western Chinese Han population.

[Retraction Note: Association of Gene Polymorphisms in Wnt Signal Pathway with Tuberculosis in Chinese Tibetan Population.2016,47(6):920-925.].

This corrects the article DOI: 10.13464/j.scuxbyxb.

[Methylation Chip Screening and Verification of Differential Genes Related to Tuberculosis Infection].

Objective: To screen the genes with significant changes in DNA methylation level in active tuberculosis patients, we used the methylation chips and expanded the sample size to verify candidate genes.

Methods: ① This study enrolled 9 cases of active tuberculosis patients, 3 cases of latent tuberculosis patients and 3 cases of healthy controls whose age and gender were all matched. Genome DNA was extracted from peripheral blood mononuclear cell in blood samples collected from these candidates, and bisulfite conversion treatment was then conducted.

[Methylation Analysis and Validation of Whole Genome DNA in Active Tuberculosis].

Objective: To screen and identify the gene of DNA methylation in patients with active tuberculosis.

Methods: ① This study enrolled 9 cases of active tuberculosis patients (including 3 newly diagnosed tuberculosis patients and 6 cases of retreatment of active tuberculosis patients), 3 cases of latent tuberculosis patients and 3 cases of healthy controls. Genome DNA was extracted from Peripheral Blood Mononuclear Cell and following bisulfite conversion treatment.

Plasma levels of IL-1Ra are associated with schizophrenia.

Aim: Although peripheral low-grade inflammation and brain-derived neurotrophic factor (BDNF) levels have been implicated in schizophrenia (SCZ), the interactions between them remain to be fully revealed. We aimed to compare BDNF and cytokines in patients with SCZ and healthy controls (HC). Additionally, we aimed to investigate the association between peripheral levels of cytokines and BDNF in patients with SCZ.

[Molecular Features of SMA-related Genes in Spinal Muscular Atrophy Patients of Han Nationality in Southwest China.].

Objectives: To investigate the molecular features of spinal muscular atrophy (SMA) related genes in SMA patients of Han nationality of southwest of China.

Methods: We collected 62 unrelated patients of SMA and 50 unrelated healthy individuals in this study.The copy numbers of survival motor neuron gene () and uronal-apoptosis inhibitory protein gene () were measured by using multiplex ligation-dependent probe amplification (MLPA).

[Correlations Between - Fusion Gene and Clinical Features of Acute Myeloid Leukemia in Sichuan].

Objectives: To determine the correlations between fusion gene and clinical characteristics of patients with AML,and its association with the prognosis of AML-M2.

Methods: Medical records of 94 AML-M2 cases with positive fusion gene and 51 AML-M2 cases with negative gene were retrospective reviewed.Their clinical characteristics,treatment responses and prognostic outcomes were compared.

[ Gene Expression and Its Clinical Significance in Acute Myeloid Leukemia].

Objectives: To determine the correlation between fms-like tyrosine kinase 3 gene () expression and -internal tandem duplication (ITD) mutations in acute myeloid leukemia patients,and the association between expression of gene and clinical and laboratory features of patients.

Methods: The expression of mRNA in bone marrow (BM) leukemic cells of 128 acute myeloid leukemia (AML) patients was measured by real-time PCR.The patients were divided into two groups using the 35% expression as a cut-off point.

[Association of Gene Polymorphisms in Wnt Signal Pathway with Tuberculosis in Chinese Tibetan Population.].

Objectives: To determine the correlation between gene polymorphisms in Wnt signal pathway and susceptibility of Chinese Tibetan people to tuberculosis.

Methods: A total of 488 active tuberculosis patients and 454 healthy subjects(control) were enrolled in this case-control study.Five single nucleotide polymorphisms (SNPs) in Wnt signal pathway (rs4135385 in gene,rs11001553 in gene,rs56900803 in gene,rs7832767 in gene and rs11079571 in gene) were genotyped using MassARRAY method.

[The Targeted Regulating Role of Has-miR-577 and Has-miR-583 on Gene -21 Detected by the Dual Luciferase Reporter System].

Objectives: To determine the targeted regulating role of has-miR-577 and has-miR-583 on the expression of fibroblast growth factor 21 (-21) based on a constructed luciferase reporter -21 gene vector.

Methods: The site of has-miR-577 and has-miR-583 target genes -21 were predicted by the bioinformatics analyzing tools online.-21 gene fragments,combined with has-miR-577 or has-miR-583 sequences and mutant sequences,were designed and synthesized.

[Advances of Molecular Diagnostic Techniques Application in Clinical Diagnosis.].

Over the past 20 years,clinical molecular diagnostic technology has made rapid development,and became the most promising field in clinical laboratory medicine.In particular,with the development of genomics,clinical molecular diagnostic methods will reveal the nature of clinical diseases in a deeper level,thus guiding the clinical diagnosis and treatments.Many molecular diagnostic projects have been routinely applied in clinical works.

[Gene Mutation Spectrum Analysis of 170 Patients with Duchenne/Bayesian Muscular Dystrophy in Southwest of China].

Objective: To determine gene variations and genotype-phenotype correlations in Duchenne/Bayesian muscular mystrophy (DMD/BMD) patients, and the association between dystrophin gene polymorphisms and clinical phenotype.

Methods: Multiplex ligation-dependent probe amplification (MLPA) was adopted to detect dystrophin gene variations in 170 patients. Sanger sequencing was performed in 3 cases with decreased peaks in MLPA results.

Prevalence and Clinical Profile of EGFR Mutation In Non- Small-Cell Lung Carcinoma Patients in Southwest China.

Aims: To investigate the distribution of epidermal growth factor receptor (EGFR) mutations, and explore any relationships with clinical characteristics in non-small-cell lung carcinoma (NSCLC) patients.

Materials And Methods: EGFR mutations were assessed by ADx-ARMS in 261 NSCLC patients from West China Hospital of Sichuan University. Relationships between EGFR mutation and clinical characteristics were analyzed by SPSS.

Clinical significance of BCR-ABL fusion gene subtypes in chronic myelogenous and acute lymphoblastic leukemias.

Background: Some reports have suggested that chronic myeloid leukemia (CML) patients have a higher prevalence of M-bcr than acute lymphoblastic leukemia (ALL) patients, which show a higher prevalence of m-bcr. However, the relationship between BCR-ABL subtypes and progression of CML and ALL remains unclear.

Materials And Methods: 354 CML chronic phase (CML-CP) patients, 26 CML blastic phase (CML-BP) patients and 72 ALL patients before treatment with BCR-ABL positive were recruited for blood routine examination and bone marrow smear cytology.

A simple, fast correction method of triglyceride interference in blood hemoglobin automated measurement.

Background: To establish a reliable correction method for automated hemoglobin (HGB) measurement by minimizing the interference from blood high triglyceride (TG).

Methods: Fifty whole blood samples and 50 plasma samples containing variable TG concentrations were used to determine the centrifugation speed and time. Complete blood cell counts (CBCs) were performed by an automated hematology analyzer for 102 blood samples, in which high-level TG were artificially added.

[Correlation between JAK2-V617F mutations and variation of peripheral blood cells among BCR/ABL-negative MPD patients].

Objective: To assess the correlation between JAK2-V617F mutation and complete blood counts among patients with BCR/ABL-negative myeloproliferative diseases (MPD).

Methods: One hundred and ninety one patients were recruited. Retrospectively, their laboratory data were analyzed for the counts of red blood cells (RBC), white blood cells (WBC) and platelets (PLT).

Reference intervals and factors contributing to serum cystatin C levels in a Chinese population.

Background: Serum cystatin C (Cys-C), an inhibitor of cysteine proteases, has been suggested as an ideal biomarker of glomerular filtration rate (GFR).

Objectives: The objective of this study was to describe the reference intervals of serum Cys-C and identify factors associated with serum Cys-C or its variability, including age, gender, creatinine (Crea), blood urea nitrogen (BUN), and uric acid (UA).

Design And Methods: Serum Cys-C, Crea, BUN, and UA were measured in 4,517 healthy participants aged 8-89 years attending our hospital.

[Detection of epidermal growth factor receptor gene mutation in non-small cell lung cancer by allele-specific oligonucleotide-PCR and bi-loop probe specific primer quantitative PCR].

Objective: To compare the detection sensitivity of epidermal growth factor receptor (EGFR) mutations between allele specific oligonucleotide PCR (ASO-PCR) and bi-loop probe and specific primer quantitative PCR (BPSP-qPCR).

Methods: A total of 96 non-small cell lung cancer specimens were selected from West China Hospital from September 2009 to December 2010. ASO-PCR was developed to detect the presence of classical EGFR mutations.

[Estimating glomerular filtration rate based on serum cystatin C].

Objective: To develop an estimating formula for glomerular filtration Rate (GFR) based on serum cystatin C in patients with chronic kidney disease (CKD).

Methods: Clinical characteristics of 242 CKD patients were collected. The patients were randomly divided into modeling group and model validation group.

[Detection of epidermal growth factor receptor gene mutations in non-small cell lung cancer using bi-loop probe specific primer quantitative PCR].

Objective: To investigate the sensitivity of bi-loop probe and specific primer quantitative PCR (BPSP-qPCR) in the detection of epidermal growth factor receptor (EGFR) gene mutations in non-small cell lung cancer (NSCLC).

Methods: BPSP-qPCR was employed to examine the presence of mutations of EFGR exon 19 through 21. Correlation of the mutations with clinicopathological characteristics and types of tumor samples were performed.