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Congenital bilateral absence of the vas deferens (CBAVD) is observed in 1%-2% of males presenting with infertility and is clearly associated with cystic fibrosis transmembrane conductance regulator (CFTR) mutations. CFTR is one of the most well-known genes related to male fertility. The frequency of CFTR mutations or impaired CFTR expression is increased in men with nonobstructive azoospermia (NOA). CFTR mutations are highly polymorphic and have established ethnic specificity. Compared with F508Del in Caucasians, the p.G970D mutation is reported to be the most frequent CFTR mutation in Chinese patients with cystic fibrosis. However, whether p.G970D participates in male infertility remains unknown. Herein, a loss-of-function CFTR p.G970D missense mutation was identified in a patient with CBAVD and NOA. Subsequent retrospective analysis of 122 Chinese patients with CBAVD showed that the mutation is a common pathogenic mutation (4.1%, 5/122), excluding polymorphic sites. Furthermore, we generated model cell lines derived from mouse testes harboring the homozygous Cftr p.G965D mutation equivalent to the CFTR variant in patients. The Cftr p.G965D mutation may be lethal in spermatogonial stem cells and spermatogonia and affect the proliferation of spermatocytes and Sertoli cells. In spermatocyte GC-2(spd)ts (GC2) Cftr p.G965D cells, RNA splicing variants were detected and CFTR expression decreased, which may contribute to the phenotypes associated with impaired spermatogenesis. Thus, this study indicated that the CFTR p.G970D missense mutation might be a pathogenic mutation for CBAVD in Chinese males and associated with impaired spermatogenesis by affecting the proliferation of germ cells.
Subject(s)
Humans , Animals , Mice , Male , Mutation, Missense , Retrospective Studies , Cystic Fibrosis Transmembrane Conductance Regulator/genetics , Infertility, Male/genetics , Mutation , Vas Deferens/abnormalities , Spermatogenesis/geneticsABSTRACT
Objective:To investigate the application value and treatment opportunity of single balloon enteroscopy in children with Peutz-Jeghers syndrome(PJS).Methods:A retrospective analysis was conducted on 33 children diagnosed with PJS in Hunan Children′s Hospital from January 2011 to September 2021.The patient′s age, gender, family history, clinical symptoms, enteroscopy examination and treatment, number of polyps, intraoperative and pos-toperative complications, surgical treatment, recurrence of surgery, and follow-up data were analyzed, and the chi- square test was used for statistical analysis. Results:A total of 33 PJS children aged (9.00±3.13) years, including 21 males and 12 females, were included.All of them received at least once single balloon enteroscopy test.The main manifestations of the children were black spots (33 cases) and multiple polyps in the digestive tract (31 cases). In all the 33 cases, black spots were distributed on lips.Some black spots were also found at the end of fingers (3 cases), at the end of foot toes(2 cases), and at the end of finger toes (6 cases). During the operation, 391 polyps were removed, most of which were jejunum polyps (37.08%, 145/391 polyps). Eleven children with PJS has intussusception, of which intestinal intussusception accounted for 90.91% (10/11 cases). Ten cases (30.30%, 10/33 cases) received surgical treatment, and 72.73% (8/11 cases) underwent surgery for acute refractory intussusception.One case had intestinal perforation and 2 cases were bleeding during the operation, and the 3 cases recovered completely after hemostatic clip sealing and surgical treatment.The incidence of hollow ileum polyps and giant polyps in children aged >8 years was higher than that in children aged ≤8 years[92.55% (149/161 polyps) vs.7.45%(12/161 polyps), 96.20%(76/79 polyps) vs.3.80% (3/79 polyps)]. The differences were statistically significant ( χ2=9.854, 8.711, all P<0.05). There was no significant difference in the incidence of intussusception among different age groups ( P>0.05). Among the 33 children with PJS, 57.58% (19/33 cases) had recurrence 1-3 years after operation, and no cases of cancer have been followed up so far. Conclusions:Intestinal polyps are common in children with PJS, and the application of single-balloon enteroscopy in children with PJS is reliable and safe.Children over 8 years old are more vulnerable to empty ileum polyps and giant polyps.Therefore, it is advised that children aged above 8 years with PJS should undergo at least once enteroscopy.
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Objective@#To quantitatively analyze the chest computerized tomography ( CT ) images of coronavirus disease 2019 ( COVID-19 ) cases by automatic artificial intelligence ( AI ) system, so as to provide the basis for the prediction of severe cases and early clinical intervention.@*Methods@#Eighty-three confirmed cases of COVID-19 from January 23 to February 14, 2020 in Wuchang Hospital of Wuhan were selected and the clinical data were collected. According to the diagnosis and treatment Plan of COVID-19 (seventh trial), the patients were divided into an ordinary group and a severe group. The parameters of chest CT images were quantified by the automatic AI system, and the CT imaging features of two groups were compared.@*Results@#There were 46 cases in the ordinary group and 37 cases in the severe group, with the age of ( 62.68 ±13.69 ) years and ( 50.52 ±12.45 ) years, respectively. The percentages of total pulmonary lesions, the lesion volume of bilateral lungs, the lesion volume of right lower lung, the left lung volume and the right lung volume from -300 to -200 Hu [median (inter-quartile range)] were 19.80% ( 21.69% ), 622.87 ( 1 145.73 ) cm3, 205.73 ( 246.95 ) cm3, 26.50 (21.20) cm3 and 38.02 (48.78) cm3 in the severe group, which were significantly different from 9.78% ( 13.24% ), 333.55 ( 401.77 ) cm3, 126.02 (164.21) cm3, 21.43 (13.11) cm3 and 26.92 ( 18.04 ) cm3 in the ordinary group ( P<0.05 ). The volume of pulmonary lesions reached the peak from 10 to 16 days after infection.@*Conclusion@#The lung lesions in severe cases of COVID-19 are large, especially in the right lower lung, and need to be closely monitored from 10 to 16 days after infection for early warning of severe cases.
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Objective:To analyze the contractile properties of the lumbar erector spinae in patients with chronic nonspecific low back pain (CNLBP), and to explore their correlation with pain and dysfunction. Methods:From January to June, 2020, 24 patients with CNLBP in the outpatient and the ward of geriatric rehabilitation medicine department and 26 asymptomatic volunteers were included. Their contractile properties of the lumbar erector spinae were measured with tensiomyography, including maximum radial muscle displacement (Dm), contraction time (Tc), delay time (Td), sustain time (Ts), half-time relaxation (Tr) and lateral symmetry (LS). The contraction velocity (VC) was calculated. Potential associations of tensiomyography parameters to Visual Analogue Scale (VAS) and Oswestry Disability Index (ODI) were assessed using correlation analysis. Results:No significant differences were found in Td, Ts, Tc, Tr and LS between two groups (P > 0.05). Dm and Vc were significantly lower in both sides of CNLBP group than in the control group (t > 2.058, P < 0.01). Dm or Vc were not correlated with VAS and ODI (P > 0.05). Conclusion:Erector spinae are stiff and fatiguable in patients with CNLBP, however, they are not associated with pain and dysfunction. Tensiomyography could be used for accurate diagnosis and treatment of CNLBP.
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Purpose@#Drug resistance is one of the main causes of chemotherapy failure in patients with small cell lung cancer (SCLC), and extensive biological studies into chemotherapy drug resistance are required. @*Materials and Methods@#In this study, we performed lncRNA microarray, in vitro functional assays, in vivo models and cDNA microarray to evaluate the impact of lncRNA in SCLC chemoresistance. @*Results@#The results showed that KCNQ1OT1 expression was upregulated in SCLC tissues and was a poor prognostic factor for patients with SCLC. Knockdown of KCNQ1OT1 inhibited cell proliferation, migration, chemoresistance and promoted apoptosis of SCLC cells. Mechanistic investigation showed that KCNQ1OT1 can activate transforming growth factor-β1 mediated epithelial-to-mesenchymal transition in SCLC cells. @*Conclusion@#Taken together, our study revealed the role of KCNQ1OT1 in the progression and chemoresistance of SCLC, and suggested KCNQ1OT1 as a potential diagnostic and prognostic biomarker in SCLC clinical management.
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Objective To retrospectively analyze the prognostic factors for locoregionally recurrent early?stage extranodal nasal?type natural killer/T?cell lymphoma ( NKTCL) . Methods A total of 56 patients with early?stage extranodal nasal?type NKTCL, who had locoregional recurrence after initial treatment and then received salvage treatment from 1995 to 2014, were enrolled as subjects. The effects of salvage treatment on the overall survival ( OS) rate were analyzed after initial treatment and recurrence. Univariate and multivariate prognostic analyses were performed on the OS rate after recurrence. Results The median follow?up time was 35. 9 months after initial treatment and 14. 8 months after recurrence. The 3?year OS rate was 73% after initial treatment and 58% after recurrence. Compared with chemotherapy alone, radiotherapy?containing salvage treatment significantly improved the OS rates after initial treatment and recurrence ( P=0. 040, 0. 009 ) , and re?irradiation also significantly improved the OS rates after initial treatment and recurrence (P=0. 018, 0. 019). Most (84%) of the acute and late adverse reactions after re?irradiation were grade 1?2 ones. The univariate and multivariate analyses showed that the Karnofsky Performance Status score, radiotherapy in initial treatment, and radiotherapy in salvage treatment were influencing factors for the OS rate after recurrence. Conclusions Radiotherapy achieves improved survival and tolerable toxicities, making it indispensable in the treatment of locoregionally recurrent extranodal nasal?type NKTCL.
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Objective To investigate the correlation between tumor metastasis with T cell subsets and cytokines in the pa tients with primary hepatocellular carcinoma (HCC).Methods Ninety-seven cases of primary HCC were prospectively collected from January 2014 to January 2016 and assigned into the metastasis group (38 cases) and non-metastasis group(59 cases) according to whether suffering from metastasis.Surgical specimens were obtained from all pauents and flow cytometry was used to detect the CD4+,CD8+ T cell proportion in HCC tissue,paracancerous tissues and peripheral blood.Moreover,ELISA was adopted to detect the peripheral blood IL-6,IL-10,TNF-α and IFN-γ levels.Results Compared with the non-metastasis group,the CD4+ T cell proportion of HCC tissue in the metastasis group was significantly increased(P=0.02),while the CD8+ T cells were significantly decreased (P=0.015).There was no statistical difference in CD4+ T cells proportion in the paracancerous tissue between the two groups (P=0.328).However the CD8+ T cells proportion of paracancerous tissue in the metastasis group was significantly higher than that in the non-metastasis group (P=0.021).There was no statistically significant difference in the proportion of CD8+ T cells in peripheral blood of the two groups (P=0.362).The proportion of CD4+ T cells in peripheral blood of the metastatic group was significantly lower than that in non-metastasis group (P=0.032).When compared with non-metastasis group,the metastasis group got a decreased level of peripheral blood IL-6 (P =0.012);while the IL-10 level was significantly increased (P =0.006);the TNF-α level and IFN-γ level were significantly decreased(P=0.000,P=0.035).Conclusion The patients with primary HCC have obvious T cell subsets and cytokines imbalance.
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<p><b>OBJECTIVE</b>25-Hydroxyvitamin D3 [25(OH)D3] is the main product of vitamin D and can reflect the absolute concentration of active vitamin D in the body. This study examined serum 25(OH)D3 levels in children with juvenile idiopathic arthritis (JIA) in order to explore the association of vitamin D concentrations with the pathogenesis and disease activity of JIA.</p><p><b>METHODS</b>Serum samples were collected from 53 children confirmed as having JIA between January 2013 and March 2014, as well as 106 healthy children (control group) who underwent physical examination in the same period. Serum concentrations of 25(OH)D3 were measured using ELISA and compared between the cases and healthy controls. The association of serum 25(OH)D3 levels with JIA subtypes, ACR Pediatric 30 Score, peripheral blood C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR) were analyzed in children with JIA.</p><p><b>RESULTS</b>Compared with the control group, the JIA group had significantly reduced serum 25(OH)D3 levels (median: 42.6 nmol/L vs 49.9 nmol/L; P<0.01). The percentage of subjects with severe deficiency of vitamin D in the JIA group was significantly higher than that in the control group (17.0% vs 6.6%; P<0.05). Serum 25(OH)D3 showed no significant correlations with JIA subtypes, ACR Pediatric 30 Score, CRP, and ESR in children with JIA.</p><p><b>CONCLUSIONS</b>Vitamin D concentrations are significantly decreased in children with JIA. Decreased vitamin D concentrations may be associated with the pathogenesis of JIA. However, vitamin D concentrations may have no correlations with JIA subtypes, disease severity, and disease activity.</p>
Subject(s)
Adolescent , Child , Child, Preschool , Female , Humans , Infant , Male , Arthritis, Juvenile , Blood , Calcifediol , BloodABSTRACT
<p><b>OBJECTIVE</b>To investigate the correlation of prolactin receptor (PRL-R) expression to estrogen receptor (ER) and progesterone receptor (PR) expressions in primary breast cancer.</p><p><b>METHODS</b>For 130 female patients with breast cancer (median age 46 years), PRL-R expression in the primary tumor was detected by immunohistochemistry, and the correlation between PRL-R and ER/PR expressions was analyzed statistically.</p><p><b>RESULTS</b>PRL-R positivity in the primary tumor was found in 89 of the patients (68.5%), and the positivity rate for PRL-R was positively correlated to ER expression (P<0.05). Further stratification of the patients according to the CerbB-2 status revealed such a correlation only in CerbB-2-positive patients (P<0.05). In the patient cohort, no significant correlation was found in the positivity rate between PRL-R and PR expressions (P>0.05), but in CerbB-2-positive patients, the positivity rate of PRL-R showed a positive correlation to PR expression (P<0.05).</p><p><b>CONCLUSION</b>The positive correlations in positivity rate between the PRL-R and ER/PR expressions are found only in CerbB-2 positive patients with breast cancer, and the expressional status of CerbB-2 affects the correlation between PRL-R and ER/PR expression in breast cancer.</p>
Subject(s)
Adult , Aged , Female , Humans , Middle Aged , Breast Neoplasms , Metabolism , Receptor, ErbB-2 , Genetics , Metabolism , Receptors, Estrogen , Metabolism , Receptors, Progesterone , Metabolism , Receptors, Prolactin , MetabolismABSTRACT
<p><b>OBJECTIVE</b>To evaluate the radiosensitivity and toxicity of sodium glycididazole and cisplatin in concurrent chemoradiotherapy for local advanced nasopharyngeal carcinoma (NPC).</p><p><b>METHODS</b>Sixty patients with local advanced NPC (T3-4N2-3M0) were randomly divided into chemoradiotherapy group (n=30) and chemoradiotherapy plus sodium glycididazole group (n=30). All the patients received radiotherapy with (60)Co or 6-8 MV linear accelerator and concurrent injection of cisplatin at a weekly dose of 20 mg/m square. In sodium glycididazole group, the patients received injections of sodium glycididazole at 800 mg/m square prior to the radiotherapy 3 times a week.</p><p><b>RESULTS</b>At the end of the therapy and 3 month after the radiotherapy, a response rate of 100% was achieved in both of the groups. But at the end of the therapy, the chemoradiotherapy plus sodium glycididazole group showed a significantly higher rate of complete tumor remission than the chemoradiotherapy group (93.3% vs 73.33%, chi(2)=4.32, P=0.038). The patients in the two groups showed similar tolerance of the therapy during the observation.</p><p><b>CONCLUSION</b>Sodium glycididazole plus cisplatin can accelerate the tumor remission and improve the complete remission rate in patients with local advanced NPC without causing severe toxicity.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Antineoplastic Combined Chemotherapy Protocols , Therapeutic Uses , Carcinoma , Drug Therapy , Radiotherapy , Cisplatin , Cobalt Radioisotopes , Therapeutic Uses , Combined Modality Therapy , Metronidazole , Therapeutic Uses , Nasopharyngeal Neoplasms , Drug Therapy , Radiotherapy , Radiation-Sensitizing Agents , Therapeutic UsesABSTRACT
<p><b>OBJECTIVE</b>To study the interaction between polymorphisms of estrogen receptor (ER) gene and puberty on bone mineral density (BMD).</p><p><b>METHODS</b>One hundred and forty-six boys aged 13-17 years were divided into two groups according to their first spermorrhea. DNA was analyzed for Xba I and Pvu II genotypes by PCR-RFLP. BMD of the total body, forearm and lumbar spine was measured by dual-energy X-ray absorptiometry (DXA). The relationship between polymorphisms of ER gene and BMD in these two groups was analyzed.</p><p><b>RESULTS</b>The BMD at all sites in the spermorrhea group was significantly higher than that in the un-spermorrhea group. The independent contribution of ER genotypes to BMD at two pubertal stages was analyzed after adjusting co-variables. In the un-spermorrhea group, the BMD at distal 1/10 and 1/3 forearm of those carrying pp genotype was significantly higher than that of the non-carries, whereas in the spermorrhea group BMD in those carrying the same genotype was significantly lower than that in the non-carriers. Similar results were obtained by haplotype analysis. Multiple stepwise regression analysis showed that body weight, age and the first spermorrehea were the dominant determinants for BMD. BMD at forearm might be influenced by interaction between ER genotype and the first spermorrehea.</p><p><b>CONCLUSION</b>The polymorphisms of ER gene play a different role in BMD influenced by the first spermorrhea. Chinese boys carrying p or x allele should pay more attention to their bone mass.</p>
Subject(s)
Adolescent , Humans , Male , Absorptiometry, Photon , Base Sequence , Bone Density , DNA Primers , Polymorphism, Genetic , Puberty , Receptors, Estrogen , Genetics , SpermatozoaABSTRACT
<p><b>OBJECTIVE</b>To explore a method of isolation, culture and chondrogenic phenotype differentiation of mesenchymal stem cell (MSCs) from the bone marrow of rats in vitro and to offer experimental reference for the resources of seeding cells in cartilage tissue engineering.</p><p><b>METHODS</b>MSCs were isolated from bone marrow and purified by density gradient centrifuge and cultured in vitro. The MSC adherence formed and those in passage 3 were chosen to induce into chondrogenic differentiation. After 7, 14, 21 days, immunohistochemical techique was applied to detect the expression of collagen type II. The differentiated cells were implanted on the CPP/PLLA composites. After the cell-scaffold complex was cultured in vitro for one week, the ultrastructure of the scaffold was observed with scanning electron microscopy.</p><p><b>RESULTS</b>The differentiated cells changed from a spindle-like fibroblastic appearance to a polygonal shape, the capability of proliferation was down markedly. Immunohistochemical staining of collagen II were positive for the pass age, especially in the 21st days. Induced MSCs were well adherent to the scaffold composites and the cells were embedded by the cell-matrix.</p><p><b>CONCLUSION</b>Under the induced medium, MSCs can differentiate into chondrogenic phenotype and secrete specificity matrix of cartilage in vitro. MSCs can likely be served as optimal cell source for cartilage tissue engineering.</p>
Subject(s)
Animals , Female , Male , Rabbits , Bone Marrow Cells , Cell Biology , Physiology , Cell Differentiation , Cell Separation , Chondrocytes , Cell Biology , Physiology , Chondrogenesis , Mesenchymal Stem Cells , Cell Biology , Physiology , Tissue Engineering , Tissue ScaffoldsABSTRACT
<p><b>OBJECTIVE</b>To investigate molecular epidemiologic features of rotavirus (RV) infection in infantile diarrhea in Hangzhou area.</p><p><b>METHODS</b>Stool specimens of 683 infants with suspected acute viral enteritis in the autumn and winter of 2001 - 2003 were collected. RV (group A) was detected by using latex agglutination test (LAT). VP7 serotype (G) positive specimens were detected by using enzyme linked immunosorbent assay (ELISA) and then the RNA of the virus was determined with reverse transcription polymerase chain reaction (RT-PCR). cDNA of VP7 gene fragment was sequenced by automatic gene analyzor (ABI3730) and compared with the RV VP7 gene sequences stored in Genebank.</p><p><b>RESULTS</b>RV was detected in 297 of 683 (43.5%) specimens by LAT. The highest frequency of RV (group A) detected was 52.9% (228/431) in patients aged 7 - 18 months. The prevalent serotypes were G1 (36.7%, 109/297) and G3 (30.9%, 92/297), followed by mixed type (11.8%, 35/297), untyped (9.4%, 28/297), G4 (7.1%, 21/297) and G2 (4.0%, 12/297). The prevalent serotypes seen each year were different. G1 (54.9%, 45/82) was the major serotype in 2001 followed by G3 (14.6%, 12/82). In 2003, the major serotype was G3 (43.0%, 63/146) and followed by G1 (29.5%, 43/146). The reliability of ELISA was confirmed by RT-PCR, gene sequencing and homology analysis.</p><p><b>CONCLUSION</b>The main prevalent serotypes of VP7 of rotavirus were G1 and G3. The dominant serotypes of rotavirus varied in Hangzhou area from 2001 to 2003.</p>
Subject(s)
Child, Preschool , Female , Humans , Infant , Male , Antigens, Viral , Classification , Genetics , Metabolism , Capsid Proteins , Classification , Genetics , Metabolism , China , Epidemiology , Diarrhea, Infantile , Epidemiology , Virology , Enzyme-Linked Immunosorbent Assay , Latex Fixation Tests , Molecular Sequence Data , Prevalence , Reproducibility of Results , Reverse Transcriptase Polymerase Chain Reaction , Rotavirus , Classification , Genetics , Rotavirus Infections , Epidemiology , Virology , SerotypingABSTRACT
<p><b>OBJECTIVE</b>To explore a method for rapid diagnosis of sepsis in newborn infants.</p><p><b>METHODS</b>(1) The primers and oligonucleotide probes were designed and synthesized based on the sequences of bacterial 16SrRNA gene. The gene chip was prepared through the probes printed onto special glass slides. The gene chip included 18 special probes: universal probe 1, universal probe 2, Gram positive bacterial probe, Gram negative bacterial probe 1, Gram negative bacterial probe 2, Staphylococcus aureus, coagulase negative staphylococcus (CoNS) 1, CoNS 2, Escherichia coli, Hemophilus influenzae, Listeria monocytogenes, Streptococcus pneumoniae, Streptococcus agalactiae, Bacteroides fragilis, Bacillus, Meningococcus, Corynebacterium, Propionibacterium; (2) Blood specimens from 285 cases of suspected septicemia were cultured and bacterial 16S rRNA gene was detected separately; DNA isolated from blood specimens and cerebrospinal fluid was amplified by PCR, and PCR products were hybridized with the probes on the gene chips. Hybridization results were scanned and read by laser-scanner.</p><p><b>RESULTS</b>(1) Of the 285 cases, 17 were positive by PCR and the positive rate (5.96%) was significantly higher than that of blood culture (2.81%) (P < 0.01). When blood culture was taken as control, the sensitivity of PCR was 100% and Specificity was 96.75%, the index of accurate diagnosis was 0.968. (2) The 17 specimens which showed positive results by PCR were further hybridized on the gene chip. All were positive by universal probes. Among all of them, 5 were positive by E. coli probe; 4 were positive by Staphylococcus epidermidis; two were positive by Bacillus and Propionibacterium probes, separately; 4 were positive by CoNS. The 8 specimens which showed positive results by both PCR and blood culture, the result of gene chip hybridization coincided with the result of blood culture.</p><p><b>CONCLUSION</b>Detection of the bacterial 16SrRNA genes in clinical specimens by gene chip hybridization technology can diagnose neonatal septicemia rapidly. This method has higher sensitivity and specificity than blood culture or other methods and can provide a rapid way for the etiological diagnosis of neonatal septicemia. Therefore the genechip method may be valuable and practical in early diagnosis of neonatal septicemia.</p>