ObjectiveTo explore the prevalence and spectrum of β-thalassemia mutations in Fujian province,and to provide a reference for prenatal diagnosis and genetic counseling in this population.Methods Two thousand three hundred and one blood samples were randomly selected from 9 different areas of Fujian province from May 2008 to December 2010.PCR and reverse dot blot hybridization (RDB) were adopted for detection of the 17 common types of mutation,and the frequency of each genotype of β-thalassemia mutations was calculated.The β-globin gene of unknown positive samples were analyzed directly with DNA sequencing.Results Three hundred and fifty-nine cases were detected with β-thalassemia mutations of the 2301 copy blood samples submitted,and the detection rate was 15.60％ (359/2301).Of the mutated genes,12 different mutations were identified,namely IVS-2-654(C→T),CD41-42(-TCTT),CD17(A→T),-28(A→G),CD27-28(+C),CD26(G→A),CD71-72(+A),IVS-1-1(G→T),CD43(G→T),-29(A→G),initiation codon ATG→AGG and CD36(-C).Mutation frequencies were 46.54％ (175/376),33.24％ (125/376),9.31％ (35/376),5.05％ (19/376),2.13％(8/376),1.33％(5/376),0.80％(3/376),0.27％(1/376),0.27％(1/376),0.27％(1/376),0.53％(2/376),and 0.27％(1/376),respectively.The most common mutations were IVS-2-654 (C→T) and CD41-42 (-TCTT),which accounted for 79.78％(300/376) of total genetic mutations.In addition,a novel β-globin gene mutation CD36 (-C) allele was detected for the first time,the deletion of a nucleotide C at code 36 within exon 2 lead to a frameshift mutation that could result in a premature termination at code 60.Conclusions β-thalassemia mutations in Fujian province are complex with significant genetic heterogeneity.We present for the first time the detection of a new β-thalassemia mutation in the population:CD36(-C),which provides valuable information for genetic counseling and prenatal diagnosis in Fujian province.

OBJECTIVETo detect the hypermethylation status of RASSF1A promoter in serum DNA of non-small cell lung cancer (NSCLC) patient and evaluate its correlation with clinicopathological parameters.

METHODSSerum DNA was extracted from the peripheral blood of 75 NSCLC patients and another 35 patients with benign pulmonary disease and 15 healthy donors. The methylation status of RASSF1A promoter was determined using methylation-specific PCR (MSP), and the correlation of methylation profiles with clinicopathological parameters was statistically analyzed.

RESULTSAberrant methylation of RASSF1A was detected in 23 of 75 (30.7%) cancer patients, but in none of patients with benign pulmonary disease or in healthy donors (P <0.001). RASSF1A hypermethylation status was found to be correlated with late stage and poor differentiation (P < 0.05), but not with gender, age or histopathology in NSCLC patients.

CONCLUSIONHypermethylated RASSF1A promoter is frequently found in the serum DNA of non-small cell lung cancer patient, and RASSF1A may become a promising novel biomarker for diagnosis and prognosis prediction in lung cancer.

Adult ; Aged ; Biomarkers, Tumor ; blood ; Carcinoma, Non-Small-Cell Lung ; blood ; genetics ; pathology ; Case-Control Studies ; DNA Methylation ; DNA, Neoplasm ; blood ; genetics ; Female ; Humans ; Lung Neoplasms ; blood ; genetics ; pathology ; Male ; Middle Aged ; Neoplasm Staging ; Polymerase Chain Reaction ; methods ; Promoter Regions, Genetic ; Tumor Suppressor Proteins ; blood ; genetics

OBJECTIVETo assess the value of multi-slice spiral CT (MSCT) with three dimensional (3D) reconstruction in the diagnosis of neoplastic lesions in the jawbones.

METHODSThirty-three patients with neoplastic lesions of the jawbones underwent MSCT scanning with 3D reconstruction. Of these patients, 14 had ameloblastoma, 8 had hemangioma, 3 had osteosarcoma, 3 had ossifying fibroma, 2 had chondrosarcoma, 2 had fibrosarcoma, and 1 had odontogenic myxoma. Preoperative MSCT scanning was performed with the slice thickness of 2 mm, and 3D reconstruction of the images was conducted by means of multi-planar reconstruction (MPR), curved-planar reformation (CRP), and 3D volume rendering technique (VRT). The results were compared with those observed during the operations.

RESULTSIn the 33 cases, the neoplastic lesions of the jawbones were displayed by 2D or 3D imaging and confirmed by intraoperative findings. Two-dimensional imaging allowed better observation than 3D imaging of the deep structures, whereas 3D imaging was superior in visualizing the morphological changes of the compromised bones and the spatial relationship between the tumors and surrounding structures. Two-dimensional imaging and MPR were excellent in revealing the internal structures and pathological changes of tumors, having also better performance in showing the tumors involving the soft tissues. Benign tumors were most visualized as bone expansion changes with well defined ovoid or lobulated borderlines, and malignant ones often resulted in adjacent bony destruction and soft tissue masses.

CONCLUSIONMSCT examination is useful in defining the scope of tumor involvement and bony changes to help in the definite diagnosis, differential diagnosis and choice of clinical treatment. Two-dimensional imaging, MPR, VRT and CRP have their respective advantages and limitations in showing jawbone tumor, and their combination can be of great clinical value.

Adolescent ; Adult ; Ameloblastoma ; diagnosis ; Female ; Hemangioma ; diagnosis ; Humans ; Imaging, Three-Dimensional ; methods ; Jaw ; diagnostic imaging ; Jaw Neoplasms ; diagnosis ; Male ; Middle Aged ; Reproducibility of Results ; Sensitivity and Specificity ; Tomography, Spiral Computed ; methods ; Young Adult

OBJECTIVETo investigate the gene prevalence and spectrum of alpha- and beta-thalassemia in Fujian province.

METHODSA total of 11 234 of neonatal cord blood samples were collected for a prevalence study of alpha- and beta-thalassemia. All subjects included in this study were registered in 9 cities of Fujian province. A complete blood count and high performance liquid chromatography (HPLC) were performed in all samples, with microcytosis (MCV≤ 79 f1 and MCH≤ 27 pg) or HPLC positive cases further studied by DNA analysis. alpha- and beta-thalassemia were determined by using gap-PCR and reverse dot blot (RDB) assays. Unknown positive samples were analyzed directly with DNA sequencing.

RESULTSOf all 11 234 cord blood samples, 356 were identified as from alpha-thalassemia gene carriers, 7 deletion genotypes were identified including 236 (--SEA/ α α) cases, 67 (α 3.7/ α α) cases, 24 (alpha 4.2/alpha alpha) cases, 3 (alpha 3.7/ SEA) cases, 1 (alpha 4.2/ SEA) cases, 1 (alpha 3.7/ alpha 3.7) cases, 1 (alpha 3.7/ alpha 4.2) cases; 3 non-deletion genotypes were detected, including 7 (alpha alpha QS/ alpha alpha) cases, 3 (α α CS/α α) cases, 2 (α α WS/ α α) cases, the most common mutation was SEA/α α, which accounted for 66.29%, 148 individuals were found to have beta-hemoglobin gene mutations. 12 different mutations were identified, namely 65 IVS-2 654 (C>T) cases, 40 CD41-42(-TCTT, 12 CD17(A>T) cases, 10 -28(A>G) cases,7 CD27-28(+C) cases, 5 start codon ATG>AGG cases, 2 CD26(G>A) cases, 1 CD71-72(+A) cases, 1 IVS-1-1(G>T) cases, 1 CD43(G>T) cases, 2 -29(A>G) cases, 2 Codon 36 (-C) cases, the most common mutation was IVS-2 654(C>T) and CD41-42(-TCTT), which accounted for 70.95%. A novel beta-globin gene mutation CD36 (-C) allele was also detected. The carrier rate of thalassemia in Fujian population is 4.41%. In addition, 9 beta-thalassemia carriers were found with alpha-thalassemia mutation.

CONCLUSIONThe research has revealed the type of gene mutations in alpha- and beta-talassemia in Fujian province. The beta-thalassemia mutations in Fujian province are complex, which were also obviously heterogeneous. This will significant value for screening the incidence, provide the valuable information for genetic counseling and prenatal diagnosis.

Adolescent ; Adult ; China ; epidemiology ; Female ; Genotype ; Humans ; Male ; Middle Aged ; Prevalence ; Young Adult ; alpha-Thalassemia ; epidemiology ; genetics ; beta-Globins ; genetics ; beta-Thalassemia ; epidemiology ; genetics

Tumor cells can use different strategies to suppress the immune system and disable them for killing tumor cells. Previous studies have shown that recombinant human peroxiredoxin-5 (hPRDX5) can activate the normal anti-tumor immune, so as to control and eliminate the tumor cells, but its exact mechanism of action needs to be studied in depth. The study aimed to investigate whether hPRDX5 exerts its anti-tumor activity by activating or reversing the polarization state of mouse macrophages RAW264. 7 cells. The results of CCK8 showed that different doses of hPRDX5 could significantly enhance the viability of macrophage compared with the control group (P < 0. 001); The results of Nitric oxide (NO) test showed that hPRDX5 significantly enhanced NO secretion levels in RAW264. 7 cells (P < 0. 001); ELISA experiments revealed that hPRDX5 promotes TNF-α (P<0. 01) and IL-6 (P<0. 001) secretion in RAW264. 7 cells; Flow cytometry revealed that hPRDX5 increased the expression of antigen differentiation cluster (CD) 80 (P < 0. 01) and inducible nitric oxide oxide synthase (iNOS) (P < 0. 001) in RAW264. 7 cells, and reduced the expression of CD206 (P < 0. 001) in RAW264. 7 cells induced by tumor conditional culture solution (TCS); Lactate dehydrogenase (LDH) experiments revealed that hPRDX5 can increase the killing activity of mouse macrophages on mouse pancreatic cancer Panc02 cells. hPRDX5 is able to activate mouse macrophage RAW264. 7 cells, promotes its M1-type polarization, reverses M2-type polarization, and exerts antitumor activity through the immune-enhancing effect.

Male infertility (MI) and male sexual dysfunction (MSD) can often coexist together due to various interplay factors such as psychosexual, sociocultural and relationship dynamics. The presence of each form of MSD can adversely impact male reproduction and treatment strategies will need to be individualized based on patients’ factors, local expertise, and geographical socioeconomic status. The Asia Pacific Society of Sexual Medicine (APSSM) and the Asian Society of Men’s Health and Aging (ASMHA) aim to provide a consensus statement and practical set of clinical recommendations based on current evidence to guide clinicians in the management of MI and MSD within the Asia-Pacific (AP) region. A comprehensive, narrative review of the literature was performed to identify the various forms of MSD and their association with MI. MEDLINE and EMBASE databases were searched for the following English language articles under the following terms: “low libido”, “erectile dysfunction”, “ejaculatory dysfunction”, “premature ejaculation”, “retrograde ejaculation”, “delayed ejaculation”, “anejaculation”, and “orgasmic dysfunction” between January 2001 to June 2022 with emphasis on published guidelines endorsed by various organizations. This APSSM consensus committee panel evaluated and provided evidence-based recommendations on MI and clinically relevant MSD areas using a modified Delphi method by the panel and specific emphasis on locoregional socioeconomic-cultural issues relevant to the AP region. While variations exist in treatment strategies for managing MI and MSD due to geographical expertise, locoregional resources, and sociocultural factors, the panel agreed that comprehensive fertility evaluation with a multidisciplinary management approach to each MSD domain is recommended. It is important to address individual MI issues with an emphasis on improving spermatogenesis and facilitating reproductive avenues while at the same time, managing various MSD conditions with evidence-based treatments. All therapeutic options should be discussed and implemented based on the patient’s individual needs, beliefs and preferences while incorporating locoregional expertise and available resources.

OBJECTIVETo investigate the clinical results of scapula fractures with lateral incision combined with bridge internal fixation system.

METHODSFrom October 2012 to December 2016, 20 cases of scapular fractures were treated through the lateral incision combined with bridge fixation system, including 15 males and 5 females, with an average age of 31.6 years old(ranged, 21 to 52 years old). Fourteen cases were scapular body fracture, 10 were scapular neck fracture, 6 were scapular fracture, 1 was acromion fracture, 1 was coracoid fracture, 4 were the glenoid rim fracture, 3 were the glenoid fossa fracture. The operation time ranged from 4 to 15 d after injury with an average of 10 d.

RESULTSAll 20 cases were followed up for 3 to 24 months with an average of 15 months. Wound infection occurred in 2 cases after operation, and was healed after wound debridement and change dressing; no osteomyelitis, iatrogenic nerve injury, breakage of internal fixation, fracture displacement, joint stiffness occurred. Callus growth was observed at the fracture site 3 months after operation, the fracture healing time was 4 to 7 months, fracture healing was good without delayed union or malunion. According to Hardegger shoulder score, the results were excellent in 12 cases, good in 6 cases, moderate in 2 cases.

CONCLUSIONSLateral incision approach combined with bridge internal fixation system for scapula fractures has the advantages of easy operation, revealed clearly, and the incision can be arbitrary to extend on both sides, to provide favorable conditions for the reduction and fixation of fracture. Bridge combined internal fixation system has the advantages of flexible operation, reliable fixation strength, is a good choice for treatment of scapula fracture.

Objective: To investigate the effect of berberine on programmed necrosis of hepatocytes induced by metabolic-associated fatty liver disease (MAFLD) in mice and its related molecular mechanism. Methods: Twenty male C57BL/6N mice were randomly divided into four groups (n=5 in each group): control group (S), fatty liver group (H), berberine group(B), nuclear factor erythroid 2-related factor 2 inhibitor group (Nrf2), and all-trans-retinoic acid (ATRA) group (A). Serum alanine aminotransferase (ALT), aspartate aminotransferase (AST), lactate dehydrogenase (LDH), triglycerides (TG), total cholesterol (TC), tumor necrosis factor-α (TNF-α), interleukin-1β (IL-1β) concentrations were detected at the end of week 12 to calculate fatty liver index (liver mass/body mass ratio). Liver tissue was stained with HE, Masson and Oil Red O, and SAF score was used to evaluate the degree of liver injury. The expression levels of hepatic programmed necrosis-related proteins, namely receptor-interacting protein kinase 3 (RIPK3), phosphorylated mixed series protease-like domain (p-MLKL) and Nrf2 were detected by Western blot method. One-way ANOVA was used for intragroup comparisons and LSD-t tests were used for intergroup comparisons. Results: Compared with S group, H group serum ALT, AST, LDH, TG, TC, TNF-α, IL-1β levels and fatty liver index were significantly increased. The liver tissue was filled with vacuolar-like changes and inflammatory cell infiltration. Numerous red lipid droplets were observed with oil red O staining. Collagen fiber hyperplasia was evident with Masson staining. SAF scores (6.60 ± 0.55 and 0.80 ± 0.45) were significantly increased. The expressions of RIPK3 and p-MLKL were up-regulated. Nrf2 level was relatively increased, and the differences were statistically significant (P < 0.05). Compared with H group, berberine intervention group liver biochemical indexes, lipid levels, pro-inflammatory mediator expression, fatty liver index, and SAF score were significantly reduced, and the expression of RIPK3 and p-MLKL were down-regulated, while Nrf2 levels were further increased, and the differences were statistically significant (P<0.05). Compared with B group, treatment with Nrf2 inhibitor had antagonized the protective effect of berberine on fatty liver. Serum ALT, AST, LDH, TG, TC and TNF-α, IL-1β levels, fatty liver index, and SAF scores were significantly increased and the expressions of RIPK3 and p-MLKL were relatively increased, and the differences were statistically significant (P < 0.05). Conclusion: Berberine can significantly improve the metabolic-associated fatty liver disease injury in mice, and its mechanism is related to activation of Nrf2 and inhibition of programmed necrosis of hepatocytes.
Animals ; Berberine/therapeutic use* ; Fatty Liver ; Male ; Mice ; Mice, Inbred C57BL ; NF-E2-Related Factor 2/metabolism* ; Necrosis

OBJECTIVETo investigate the effect of blocking polypyrimidine complex binding to DNA site by using peptide nucleic acid (PNA) on γ-globin gene expression.

METHODSPYR-PNA, β-PNA and RS-PNA (random sequence-PNA) were designed and synthesized, then were transfected into K562 cells with the cationic liposome lipofectamine 2000 used as vector. The expression of γ-globin gene at both the transcriptional and translational level was detected by RT-PCR and the Western blot respectively at 24 h, 48 h and 72 h after transfection with PNAs.

RESULTSCompared with RS-PNA and control groups, the expression of γ-globin gene at mRNA and protein levels in PYR-PNA group was significantly up-regulated(P<0.05), especially at 48 h after tranfection, the levels of mRNA and protein in PYR-PNA group were increased by 2.0 and 2.5 times than those in control group, respectively.

CONCLUSIONPYR-PNA can significantly up-regulate the expression of γ-globin gene in K562 cells, this study may provide a new research idea for gene therapy of β-thalassemia.

DNA ; Gene Expression ; Humans ; Peptide Nucleic Acids ; Transfection ; gamma-Globins

OBJECTIVE: To establish a method for simultaneous determination of 12 kinds of chlorobenzene compound(CBs) in workplace air using portable gas chromatography-mass spectrometry(GC-MS) technique. METHODS: The GDH-3 air sampling tube was developed independently, and were used to collect the 12 kinds of CBs in the vapor state and aerosol state in the air. After elution with toluene solvent, portable GC-MS method was used for detection. Fast chromatographic column was used for separation, and then qualitatively analyzed with retention time and characteristics of the ions, and quantitative analyzed by standard curves. RESULTS: The quantitative determination ranges of the 12 kinds of CBs were 0.20-200.00 mg/L. All the correlative coefficients were greater than 0.998 3. All the minimum quantitative concentration was 0.01 mg/m~3, and all the minimum quantitative mass concentration was 0.04 mg/m~(3 )(15 L sample). The average elution efficiency was 88.97%-116.86%. The within-run and the between-run relative standard deviation was 10.15%-13.48% and 12.87%-19.66%, respectively. All the sampling efficiencies were>90.00%. CONCLUSION: The portable GC-MS technique could be used for rapid qualitative and quantitative detection of 12 kinds of CBs in workplace air.