Publications by authors named "Fa-Quan Lin"

Background: Biopsy is the gold standard method for diagnosing liver fibrosis. FibroScan is a non-invasive method of diagnosing liver fibrosis, but it still faces some limitations. This study aimed to establish a nomogram model and identify patients at high risk of advanced liver fibrosis associated with hepatitis B infection.

View Article and Find Full Text PDF

Objective: This article aims to investigate the clinical value of hemoglobin/red cell distribution width ratio (Hb/RDW), C-reactive protein/albumin ratio (CAR) and plateletcrit (PCT) combined with carcinoembryonic antigen (CEA) in colorectal cancer (CRC) auxiliary diagnosis.

Methods: We retrospectively analyzed in 718 subjects (212 with CRC, 209 with benign colorectal lesions (BCL), 111 with other cancers, and 186 healthy controls).

Results: The CAR, PCT, and CEA in the CRC group were higher than those in the BCL, other cancers, and the healthy control group.

View Article and Find Full Text PDF

Background: Thiamine responsive megaloblastic anemia (TRMA) is a genetic disease caused by SLC19A2 gene mutation. This study aimed to preliminarily explore the relationship between endoplasmic reticulum stress (ERS)-PERK signaling pathway and the pathogenesis of hyperglycemia induced by TRMA.

Methods: Islet β (INS.

View Article and Find Full Text PDF
Article Synopsis
  • The study focused on a family with hereditary spherocytosis (HS) to identify the clinical and genetic factors contributing to the disorder, aiding in genetic counseling and prenatal diagnosis.
  • Clinical evaluations of the family indicated symptoms like anemia and jaundice in the proband, and genetic testing revealed rare compound heterozygous mutations in the SPTB gene inherited from the parents.
  • The findings confirm that these specific genetic mutations are responsible for HS in the family, marking a significant contribution to the mutation profile of the SPTB gene and its implications for future diagnoses.
View Article and Find Full Text PDF

Background: This study aimed to explore the value of neutrophil-to-lymphocyte ratio (NLR) in combination with routine blood tests, lactate dehydrogenase (LDH), and T-lymphocyte subsets for the early diagnosis of acquired immunodeficiency syndrome (AIDS) combined with Talaromyces marneffei (TM) infection.

Methods: A total of 166 confirmed AIDS patients were enrolled in this study. The observation group included 80 AIDS patients with TM infection, and the control group consisted of 86 AIDS patients with other complications.

View Article and Find Full Text PDF

Objective: Red blood cell distribution width (RDW) on admission is a prognostic factor in cardiovascular disease. This study investigated the prognostic value of the RDW measured within 24 hours before discharge (24h dRDW) on 1-year all-cause mortality in critically ill patients with acute myocardial infarction (AMI), and compared the effect of 24h dRDW in anemia and non-anemia patients.

Materials And Methods: Altogether, 4088 patients with AMI were studied retrospectively.

View Article and Find Full Text PDF

We aimed to determine the clinical and genetic characteristics of a boy diagnosed with the β-thalassemia trait. He also had hereditary spherocytosis (HS) that had been overlooked for 7 years. Blood samples collected from the proband and his family were assessed by laboratory tests, and next-generation sequencing (NGS) and Sanger sequencing.

View Article and Find Full Text PDF

Purpose: For the diagnosis of nasopharyngeal carcinoma (NPC), reliable early indicators with sensitivity and specificity should be sought. This study evaluated the effect of the combined use of mean platelet volume/platelet count ratio (MPV/PC ratio) and platelet distribution width (PDW) for differential diagnosis of NPC. In this study, MPV/PC ratio was used for the first time to diagnostically evaluate NPC.

View Article and Find Full Text PDF

Purpose: This study aims to report the clinical features of an infant with CGL in a Chinese Zhuang ethnic family, whose family members were discovered to carry new pathogenic mutations in the .

Patients And Methods: In this study, we report clinical and molecular investigations of CGL disease in a family of 4 members (parents and two sons). We used whole exome sequencing (WES) in the family to examine the genetic cause of the disease.

View Article and Find Full Text PDF

Background: Mean platelet volume (MPV) is a marker of platelet activation. MPV and platelet count (PC) are negatively correlated, and their ratio (MPV/PC) is informative for the diagnosis of malignant tumors. However, the relationship between MPV/PC and colorectal cancer is unclear.

View Article and Find Full Text PDF

Background: Inflammation plays an important role in the occurrence and development of cancer. Numerous studies have used the derived neutrophil-to-lymphocyte ratio (dNLR) to evaluate prognosis in many types of cancer. However, the relationship between dNLR and ovarian cancer and its value in the differential diagnosis of benign and malignant ovarian tumors remain unknown.

View Article and Find Full Text PDF

Objective: To investigate the feasibility and clinical significance of high resolution melting(HRM) curve analysis to detect SLC4A1 gene D38A and K56E mutations in the patients with hereditary spherocytosis(HS).

Methods: Peripheral blood was collected from 23 cases of HS for routine tests and their genomic DNA was extracted by routine technique. Specific primers of mutation sites D38A and K56E of SLC4A1 gene were designed.

View Article and Find Full Text PDF

Background/aims: Thiamine-responsive megaloblastic anemia syndrome is a rare autosomal recessive disorder resulting from mutations in SLC19A2, and is mainly characterized by megaloblastic anemia, diabetes, and progressive sensorineural hearing loss.

Methods: We study a Chinese Zhuang ethnicity family with thiamine-responsive megaloblastic anemia. The proband of the study presented with anemia and diabetes, similar to his late brother, as well as visual impairment.

View Article and Find Full Text PDF

Background: Severe hypertriglyceridemia usually results from a combination of genetic and environmental factors and is most often attributable to mutations in the lipoprotein lipase (LPL) gene.

Objectives: The aim of this study was to identify rare mutations in the LPL gene causing severe hypertriglyceridemia.

Methods: A Chinese infant who presented classical features of severe hypertriglyceridemia recruited for DNA sequencing of the LPL gene.

View Article and Find Full Text PDF

Food-borne parasitic diseases have become a public health problem for social economy and health care. In this paper, the epidemic situation of major food-borne parasitic diseases in Guangxi Zhuang Autonomous Region, such as toxoplasmosis and clonorchiasis, are reviewed, and the countermeasures of prevention and control are put forward.

View Article and Find Full Text PDF

With the widespread use of genetic diagnostic technologies, many novel mutations have been identified in hereditary spherocytosis (HS)-related genes, including SPTA1, SPTB, ANK1, SLC4A1, and EPB42. However, mutations in HS-related genes are dispersed and nonspecific in the diagnosis of some HS patients, indicating significant heterogeneity in the molecular deficiency of HS. It is necessary to provide the molecular and genetic characteristics of these 5 genes for clinicians to examine HS.

View Article and Find Full Text PDF

Background: Cancer is widely believed to result from chronic inflammation, and red cell distribution width (RDW) and mean platelet volume (MPV) are considered as inflammatory markers for cancer. We investigated the values of RDW, MPV, and cancer antigen 125 (CA125), alone or in combination, for distinguishing between ovarian cancer and benign ovarian tumors.

Methods: The study included 326 patients with ovarian cancer, 290 patients with benign ovarian tumors, and 162 control subjects.

View Article and Find Full Text PDF

Background: Studies on homocysteine (Hcy) have mainly focused on the correlation between the homocysteine concentration and disease development. Few epidemiological investigations have been performed. This study was conducted to investigate the prevalence of hyperhomocysteinemia (HHcy) during routine physical examination in Guangxi Province, China and the correlation of serum Hcy with gender, age, serum uric acid (UA), total cholesterol (TC), triglycerides (TG), high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C), and blood glucose (GLU) to provide evidence for preventing and treating HHcy.

View Article and Find Full Text PDF

Background: Osmotic fragility testing based on flow cytometry was recently introduced for the screening of hereditary spherocytosis (HS). This study was undertaken to evaluate the clinical diagnostic value of a flow-cytometric osmotic fragility test for HS.

Methods: Peripheral blood was collected from 237 subjects at the First Affiliated Hospital of Guangxi Medical University, including 56 HS patients, 86 thalassemia patients and 95 healthy controls.

View Article and Find Full Text PDF

Objective: To investigate whether γH2AX levels were different in the spermatozoa of healthy men compared with infertility patients, and to assess the possible correlations between γH2AX and conventional semen parameters and double-stranded breaks (DSBs) identified with the use of comet assay.

Design: Prospective study.

Setting: Clinical laboratory.

View Article and Find Full Text PDF

The objective of this study is to compare and evaluate the diagnostic value of hereditary spherocytosis (HS) by three screening tests, comparing mean spherical corpuscular volume (MSCV) to mean corpuscular volume (MCV), mean corpuscular hemoglobin concentration (MCHC), and flow cytometric osmotic fragility test. Peripheral blood was collected from 237 participators diagnosed at the First Affiliated Hospital of Guangxi Medical University, including 56 hereditary spherocytosis patients, 86 thalassemia patients, and 95 healthy people. The samples were examined by three tests, and the three screening tests were evaluated by the sensitivity and specificity of tests.

View Article and Find Full Text PDF

Objectives: To determine whether the values of mean cell volume (MCV) and mean sphered cell volume (MSCV) can distinguish hereditary spherocytosis (HS) from thalassemia.

Methods: The MCV, MSCV, and other erythrocyte indexes were measured in totally 263 people, 57 HS patients, 109 thalassemia patients, and 107 normal control subjects. All indexes were derived from measurements obtained by the Beckman-Coulter LH 750 Hematology Analyzer.

View Article and Find Full Text PDF

Phosphatidylserine (PS) is an amphiphilic phospholipid ubiquitously present in the inside of the membrane of prokaryotic and eukaryotic cells. In mammalian cells, there are two synthetic pathways for PS that are different from those of bacterial biosynthesis. The translocation of sperm PS from the inner to the outer leaflet of the plasma membrane is considered to be associated with sperm apoptosis and male infertility.

View Article and Find Full Text PDF
Article Synopsis
  • The study aims to explore gene mutations related to inherited coagulation factor VII (FVII) deficiency across two families, focusing on the connection between genetic changes (genotype) and observable traits (phenotype).
  • Using techniques like PCR and direct sequencing, researchers identified specific mutations in the FVII gene, noting that proband 1 had a homozygous mutation leading to significant FVII deficiency, while proband 2 had a compound heterozygous condition with multiple mutations affecting his FVII levels.
  • The findings suggest that mutations in the FVII gene's catalytic domain can disrupt FVII function and stability, leading to bleeding tendencies in individuals with homozygous or compound heterozygous
View Article and Find Full Text PDF

Magnetic activated cell sorting (MACS) is considered as a flexible, fast, specific and simple cell sorting system that can separate target cells effectively according to specific markers on the cell surface, for which it has won a wide clinical application. MACS offers a new platform for male infertility research, as well as a novel idea for applying this technology in the optimization of semen quality and the isolation of germ cells. This article briefly introduces the basic principles of MACS, and summaries its present and potential clinical application in male infertility research, as in spermatozoa selection and cryopreservation, and the isolation of spermatogonial stem cells and germ cells.

View Article and Find Full Text PDF