ABSTRACT
Objective:To investigate the effect of helicobacter pylori (HP) infection and eradication treatment on small intestinal bacterial overgrowth (SIBO) in children.Methods:A prospective case-control study was conducted to select 68 children with symptoms of abdominal distension, abdominal pain, diarrhea and suspected digestive system diseases admitted to the Affiliated Hospital of Xuzhou Medical University from June 2021 to June 2022. They were divided into HP negative group and HP positive group according to HP infection. HP positive group received triple standardized HP eradication treatment, 14 days as a course of treatment. The baseline SIBO positive rate and gastrointestinal symptom rating scale (GSRS) score of the two groups were compared. The HP positive group was followed up for 4 and 12 weeks after drug withdrawal for quantitative assessment of gastrointestinal symptoms and LHBT. The SIBO positive rate, GSRS score of the two groups and the change of SIBO positive rate and GSRS score of the HP positive group before and after treatment were compared. The measurement data with normal distribution were expressed, and independent sample t-test was used for comparison between the two groups. M( Q1, Q3) was used to represent the measurement data of non normal distribution, and Mann Whitney U test was used to compare the two groups; Friedman test was used for comparison between multiple time points, and Nemenyi test was used for pairwise comparison. Four grid table or paired χ 2 test was used to compare the counting data between groups. Results:The positive rate of SIBO in HP negative group was lower than that in HP positive group (36.1% (13/36) vs 62.5% (20/32)), the difference was statistically significant (χ 2=4.72, P=0.030). Four weeks after drug withdrawal, the SIBO positive rate in HP positive group was higher than that before treatment (87.5% (28/32) vs 62.5% (20/32)), and 12 weeks after drug withdrawal was lower than that before treatment (21.9% (7/32) vs 62.5% (20/32)), with statistically significant differences (χ 2=8.00, P=0.008; χ 2=13.00, P<0.001). There was no statistically significant difference in GSRS score between HP negative group and HP positive group ( P=0.098). The clinical symptoms of 32 children in HP positive group were improved 4 and 12 weeks after HP eradication was stopped. GSRS scores were lower than those before treatment (8.0 (6.0, 12.8), 7.0 (5.0, 9.0) points vs 15.0 (12.0, 19.0) points) , and the differences were statistically significant ( Z values were -3.91, -4.68, respectively; all P<0.001). Conclusions:HP infection can increase the positive rate of SIBO in children with suspected digestive system diseases. The standardized triple HP eradication therapy may further aggravate the overgrowth of intestinal bacteria while treating HP infection, but this effect can be eliminated after 12 weeks of treatment.
ABSTRACT
【Objective】 To investigate the clinicopathological features and prognosis of clear cell papillary renal cell carcinoma (CCPRCC). 【Methods】 The clinicopathological and follow-up data of 40 CCPRCC patients treated during Jun. 2011 and Oct.2021 were retrospectively analyzed. The prognosis was compared with that of 40 cases of clear cell renal cell carcinoma (ccRCC) and 19 cases of papillary renal cell carcinoma (PRCC) treated in the same period. Survival analysis was performed by Log-rank test and Kaplan-Meier survival curves were plotted. 【Results】 Among the 40 patients, 28 were male and 12 were female, aged 31-84 years; 38 cases had unilateral and 2 cases had bilateral tumors; 3 cases had multifocal lesions. All patients received surgery. The maximum diameter of the masses ranged from 3.0 to 95.0 mm, with an average of (27.6±18.1) mm. Pathological grade was Fuhrman 1-2 in all cases. Immunohistochemical tests were positive for CK7 and CA-IX. During the follow-up of 5-129 (average 56) months, 1 case died after bone metastasis, 2 had ipsilateral recurrence, and 1 developed primary esophageal cancer. CCPRCC patients had a significantly better prognosis than CCRCC (P<0.001) and PRCC (P=0.005) patients, while there was no significant difference in the prognosis between CCRCC and PRCC patients (P=0.93). 【Conclusions】 CCPRCC has low malignancy. The diagnosis relies on characteristic pathological and immunohistochemical features. Surgery is an effective treatment. CCPRCC has a better overall prognosis than CCRCC and PRCC.
ABSTRACT
Congenital generalized lipodystrophy type 1 (CGL1) is an autosomal recessive genetic disease caused by mutations in AGPAT2 gene. The main clinical mainifestations include body subcutaneous fat loss, muscle hypertrophy, obvious subcutaneous veins, pseudoacromegaly, hirsutism, and acanthosis nigricans. What′s more, CGL1 is always accompanied by metabolic diseases. Therefore, it is easily misdiagnosed as metabolic syndrome, type 2 diabetes, polycystic ovary syndrome, acromegaly, or Cushing′s syndrome. Meanwhile, it is difficult to distinguish it from partial lipoatrophy syndrome. In this article, we present clinical and molecular characteristics of a patient with CGL1 and review mutations reported in literature to replenish current knowledge about this orphan disease.
ABSTRACT
Microbial Engineering is a practical and applied course, it is therefore an indispensable part of teaching to let the students practice in the production line of an enterprise. However, lack of internship resources has always been a bottleneck hampering the high-level internship training during teaching the Microbial Engineering course. A virtual production line developed based on information technology enables students to learn the theoretical knowledge of the complex production system. Moreover, it enables students to perform complex virtual operations, thereby improving students' practicing and innovation abilities. In order to let the virtual simulation experiments project play a great role in undergraduate teaching, this article summarizes the progress, characteristics, and value of the virtual simulation experiments for Microbial Engineering. In addition, the main challenges that limit its shared application are also discussed, with potential solutions prospected.
Subject(s)
Humans , Computer Simulation , Curriculum , Learning , StudentsABSTRACT
OBJECTIVE@#To carry out genetic testing for 3 fetuses with abnormal prenatal screening.@*METHODS@#Fetal ultrasound, karyotype analysis, single nucleotide polymorphism (SNP) array and fluorescence in situ hybridization were performed.@*RESULTS@#Abnormalities of chromosome 22 were found with all 3 fetuses. Fetus 1 harbored a 7.1 Mb deletion in 22q13.2q13.33 region, which involved 54 OMIM genes including SHANK3 and FBLN1. Fetus 2 had a mosaicism karyotype, with 12% of cells harboring a 6.6 Mb deletion in 22q13.31q13.33, covering 48 OMIM genes such as SHANK3 and PPARA, and 5% of cells harboring a 26.1 Mb duplication in 22q11.1q13.2 involving 285 OMIM genes. Fetus 3 carried a tandem duplication of 1.7 Mb in 22q11.1q11.21, which involved 10 OMIM genes including CECR1, CECR2 and ATP6V1E1. No abnormality was found in the three couples by chromosomal karyotyping and SNP array analysis.@*CONCLUSION@#The severity of diseases caused by chromosome 22 abnormalities not only depends on the range of the deletion or duplication, but is also closely related to chromosome structure, gene dose and genetic environment. Combined ultrasonography and various genetic testing techniques in prenatal diagnosis can greatly increase the detection rate of genetic diseases with substantial phenotypic variation.
Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , Chromosome Deletion , Chromosome Disorders , Diagnosis , Genetics , Chromosomes, Human, Pair 22 , Genetics , Fetus , Genetic Testing , In Situ Hybridization, Fluorescence , Karyotyping , Prenatal Diagnosis , Transcription Factors , Ultrasonography, PrenatalABSTRACT
Methods:A total of 1 152 amniotic fluid samples were collected from pregnant women who underwent prenatal diagnosis in the Nanjing Maternity and Child Health Care Hospital, Women′s Hospital School of Medicine Zhejiang University, West China Second University Hospital, Sichuan University/West China Women′s and Children′s Hospital, and Xiamen Maternal and Child Health Hospital from September 2014 to August 2016. These samples were examined with SD-HRM and karyotyping simultaneously. Clinical sensitivity and specificity of SD-HRM were calculated, and Kappa values were measured to evaluate the consistency of detection results of the two methods.Results:A total of 161 cases of trisomy 21, 60 cases of trisomy 18, and 5 cases of trisomy 13 were detected by SD-HRM in 1 152 prenatal samples, sensitivity and specificity were both up to 100%, and Kappa values is equal to 1 which were consistent with the results of karyotype analysis.Conclusion:SD-HRM is validated to be highly accurate for the prenatal diagnosis of common trisomies, which is promising in the clinical practice.
ABSTRACT
Objective To analyze stress distributions of alveolar bone around implants with different types of implant thread shapes and thread depths during dental immediate implantation, so as to provide references for the design and selection of implants. Methods The simplified model of mandible bone block, implants and mandibular molar were established by Geomagic Studio, SolidWorks and ANSYS Workbench, and vertical and oblique loads were applied on this model, respectively. Stress distributions on implants with different thread shape and thread depth as well as alveolar bone around implants were calculated. Results Under vertical loading, the peak stresses of implants, cortical bone and cancellous bone were in the range of 120.51-129.63 MPa, 9.94-13.25 MPa and 3.92-8.01 MPa, respectively. And the stress of cortical bone around V-shaped, rectangular, buttress or reverse buttress implant remained stable in the range of 0.40-0.45 mm thread depth. Under oblique loading, the peak stresses of implants, cortical bone and cancellous bone were in the range of 220.23-286.51 MPa, 33.39-45.08 MPa, 4.96-12.5 MPa, respectively. Among the models, V-shaped, buttress, reverse buttress implant with 0.45 mm thread depth showed the minimum stress. Conclusions The V-shaped, buttress or reverse buttress implant with a thread depth of 0.45 mm, or the rectangular implant with a thread depth of 0.40 mm had better biomechanical properties.
ABSTRACT
Objective To investigate the differences in stress distribution at the bone-implant interface of dental implants with different length-diameter ratios, so as to provide references for the design of novel dental implants. Methods The three-dimensional finite element model of mandible was established using Geomagic studio, SolidWorks and ANSYS Workbench software. The mandibular molars were applied with different vertical or oblique forces, to compare and analyze stress distributions on dental implants and the surrounding bone tissues. Results Under the same length-diameter ratio, the maximum peak equivalent stress of implant under oblique loading was significantly higher than that under vertical loading. The Von Mises stresses of implants in Group A and Group B occurred in the neck under oblique and vertical loading. Under oblique loading, the implant stress variation in Group A and Group B was 144.74-374.67 MPa and 161.52-475.38 MPa, respectively. Under vertical loading, the implant stress variation in Group A and Group B was 101.28-187.40 MPa and 110.08-210.32 MPa, respectively. The maximum Von Mises stress of Group A was significantly smaller than that of Group B. Conclusions Dentists should focus on a length-diameter ratio of 2.67 to select the standard implants, and the jawbone quality of patients should be taken into full account.
ABSTRACT
Objective@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*Methods@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*Results@#The karyotype of the fetus was determined as 47, XX, + mar[53]/48, XX, + 2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*Conclusion@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.
ABSTRACT
OBJECTIVE@#To explore the clinical significance of a prenatal case with two small supernumerary marker chromosomes (sSMC) through identification of their origins.@*METHODS@#G-banding chromosomal karyotyping analysis were carried out on fetal amniotic fluid sample and peripheral blood samples from both patients. Fluorescence in situ hybridization (FISH) and single nucleotide polymorphism-array (SNP-array) were used to analyze the component and size of the sSMCs.@*RESULTS@#The karyotype of the fetus was determined as 47, XX, +mar[53]/48, XX, +2 mar[31]/46, XX[14]. SNP-array has revealed four copies of chromosome 2q11.1q11.2 with a size of 2.6 Mb and three copies of 10p11.23q11.23 with a size of 20.6 Mb. The results was confirmed by FISH.@*CONCLUSION@#A rare chromosomal abnormality with two sSMCs was identified by combined karyotype analysis, SNP-array and FISH, which provided valuable information for prenatal diagnosis.
Subject(s)
Female , Humans , Pregnancy , Chromosome Aberrations , Chromosome Banding , Fetus , In Situ Hybridization, Fluorescence , Karyotyping , Polymorphism, Single Nucleotide , Prenatal DiagnosisABSTRACT
The widespread application of next generation sequencing (NGS) in clinical settings has enabled testing, diagnosis, treatment and prevention of genetic diseases. However, many issues have arisen in the meanwhile. One of the most pressing issues is the lack of standards for reporting genetic test results across different service providers. The First Forum on Standards and Specifications for Clinical Genetic Testing was held to address the issue in Shenzhen, China, on October 28, 2017. Participants, including geneticists, clinicians, and representatives of genetic testing service providers, discussed problems of clinical genetic testing services across in China and shared opinions on principles, challenges, and standards for reporting clinical genetic test results. Here we summarize expert opinions presented at the seminar and report the consensus, which will serve as a basis for the development of standards and guidelines for reporting of clinical genetic testing results, in order to promote the standardization and regulation of genetic testing services in China.
ABSTRACT
[Summary] Hypercalcemia in pregnancy is a rare condition which brings considerable risks to mother and fetus. The most common cause is primary hyperparathyroidism(PHPT). The untypical symptoms and biochemical tests results add obstacles in the diagnosis of PHPT during pregnancy. The management is difficult, due to restrictions in choices of treatments and lack of clinical guidelines. Severity evaluation which takes consideration of calcium homeostasis during pregnancy is crucial for appropriate management. Parathyroidectomy during the second trimester is recommended for those with high serum calcium levels.
ABSTRACT
Chromosomal microdeletion and microduplication syndromes are common genetic diseases.Technologies including fluorescence in situ hybridization , chromosomal microarray , real-time PCR, multiplex ligation-dependent probe amplification and high-throughput sequencing have been used to detect these diseases . The advantages and limitations of these technologies as well as their clinical applications in the detection of chromosomal microdeletion and microduplication syndromes are analyzed . (Chin J Lab Med, 2016, 39:407-409 )
ABSTRACT
<p><b>OBJECTIVE</b>To verify the reliability of real-time PCR for the detection of genetic mutations underlying spinal muscular atrophy (SMA) and establish quality control for clinical testing.</p><p><b>METHODS</b>Thirty-five patients, 61 first-degree relatives, 61 healthy controls and 7 prenatal cases which were previously genotyped by multiplex ligation-dependent probe amplification (MLPA) were tested with Roche LightCycler 480 and Bio-Rad CFX96 (TM) real-time PCR machines for relative quantification of copy number of SMN1 exon 7.</p><p><b>RESULTS</b>Genotyping detected by relative quantitative real-time PCR were consistent with the results of MLPA. Both types of real-time PCR machines could accurately distinguish different SMN1 copy numbers despite certain systematic differences between the two platforms.</p><p><b>CONCLUSION</b>The reliability of real-time PCR assay for detecting SMA depends on quality control. Standard database generated with known SMN1 copy number variations should be established for different instruments.</p>
Subject(s)
Humans , Gene Dosage , Muscular Atrophy, Spinal , Genetics , Mutation , Real-Time Polymerase Chain Reaction , Methods , Survival of Motor Neuron 1 Protein , GeneticsABSTRACT
<p><b>OBJECTIVE</b>To investigate the origin of a rare supernumerary chromosome in a patient with premature ovarian failure (POF), and to explore the relationship between this abnormal karyotype and pathogenesis of POF.</p><p><b>METHODS</b>GTG banding karyotyping, Q-banding and fluorescence in situ hybridization (FISH) were employed for the investigation.</p><p><b>RESULTS</b>The extra chromosome was identified as i(Y)(q10) by FISH with a panel of sex chromosome probes. The patient's karyotype was described as: 47,XX,+ ish mar i(Y)(q10) (DXZ1-, SRY-, DYZ3+, DYZ1++, wcpY+).</p><p><b>CONCLUSION</b>Co-occurrence of the supernumerary i(Y)(q10) with a female kryotype is extremely rare. This supernumerary chromosome may cause failure of X chromosomes synapsis during pachytene of meiosis I, which may trigger apoptosis of many oocytes and result in POF of the patient. Q-banding, FISH and multiple probes have been critical for accurate diagnosis of the unknown chromosome.</p>
Subject(s)
Female , Humans , Chromosome Aberrations , Chromosomes, Human, Pair 10 , Chromosomes, Human, Y , In Situ Hybridization, Fluorescence , Karyotype , Primary Ovarian Insufficiency , GeneticsABSTRACT
Objective To explore the changes of programmed death receptor-1 (PD-1) in chronic hepatitis B (CHB) patients with different baseline of hepatitis B virus (HBV) DNA levels after treatment with adefovir dipivoxil (ADV).Methods One hundred CHB patients with positive hepatitis B e antigen (HBeAg),1 × 104 copy/mL≤HBV DNA≤1 × 107 copy/mL,and positive human leukocyte antigen-A2 were divided into two groups according to the baseline HBV DNA level:47 cases in low virus load group whose HBV DNA level was ≤1 × 105 copy/mL; 53 cases in high virus load group whose HBV DNA level was＞1 × 105 copy/mL.Both groups were treated with ADV 10 mg/d.Serum HBV DNA,HBeAg seroconversion rate,alanine aminotransferase (ALT) and total bilirubin (TBil) levels of both groups before treatment and 12 months after treatment were compared.Flow cytometry was used to test peripheral blood HBV-specific cytotoxic T lymphocyte (CTL) surface PD-1 and peripheral blood HBV-specific CTL level.Categorical data were tested by x2 test; quantitative data was compared with t-test.Results Peripheral blood HBV-specific CTL surface PD-1 of CHB patients in low virus load group was 20.17 ％±1.69％,which was lower than that in high virus load group (41.38％±2.30％,t =53.02,P＜0.01) ; peripheral blood HBV specific CTL levels in two groups were 0.37％±0.02％ and 0.17％± 0.02％,respectively (t=50.47,P＜0.01) ; ALT and TBil levels in low virus load group were both lower than those of high virus load group (t=13.07,P＜0.01; t=5.06,P＜0.01).Twelve months after treatment,HBV DNA of 25 cases (53.2％) in low virus load group and 10 cases (18.9％) in high virus load group were lower than the detectable level (HBV DNA＜500 copy/mL,x2 =12.89,P＜0.01);HBeAg seroconversion was achieved in 15 cases(31.9％) and 1 case (1.9％),respectively (x2 =16.72,P＜0.01) ; peripheral blood HBV-specific CTL surface PD-1 expression levels were 9.00 ％ ±1.38 ％ and 29.40 ％ ± 3.76 ％,respectively (t =36.80,P＜ 0.01) ; peripheral blood HBV-specific CTL levels were 0.65％±0.10％ and0.48％±0.07％,respectively (t=9.61,P＜0.01).Conclusions After treatment with ADV,along with the decrease of HBV DNA load,HBV-specific CTL surface PD-1 expression decreases,while HBV-specific CTL level increases.The changes in low virus load group are much more remarkable.
ABSTRACT
Objective To evaluate application feasibility of Array CGH in genetic diagnosis of clinical complex chromosomal abnormalities.Methods Two patients of genetic counseling and two patients of prenatal diagnosis were selected from Xiamen Maternity & Child Health Care Hospital during the period of December 2010 to December 2011.Under aseptic conditions 2-4 ml peripheral blood was collected in EDTA and 2-3 ml Cord Blood was collected through cordocentesis after genetic counseling and preoperative examination.G-banded chromosome analysis and genome DNA extraction were carried out on the four cases.The whole genome of four cases were scanned and analyzed by Array CGH.The results of Array CGH were confirmed by FISH.Results Array CGH detected different kinds of duplications and deletions in several chromosomes.Most of these duplications and deletions were not detected by karyotype analysis.The results of Array CGH showed duplication of 4p16.3-4p15.31,deletion of 4p16.3 in the first case,duplication of Xp11.22-Xq11.1 in the second case,duplication of 4p16.3-4p15.32,deletion of 2q37.3 in the third case and duplication of 2q21.2-2q32.1,deletion of 2q14.3-2q21.1 in the fourth case.These duplications and deletions were confirmed by FISH.Conclusions Compared with conventional cytogenetic analysis,Array CGH can not only accurately detect micro deletion and micro duplication with high resolution and sensitivity but also identify breakpoints precisely.Array CGH can provide the basis for clinical genetic diagnosis.
ABSTRACT
Objective To discuss about the relationship between the occurrence of the uterine cervix cancer and the risk factors.MethodsAmong the patients we collected,92 patients were diagnosed to have the cervical cancer,63 patients were diagnosed as CINⅢ (the cervical intraepithelial neoplasia,CIN),and 252 patients belonged to the control group.All patients had not been cured before.We used the questionnaire to investigate them about the dietary habit and other information.Through using different statistical Methods ,we explored the relationship between the cervical cancer and the potential factors.ResultsWe found out that many factors contributed to the happening of the cervical cancer,such as gynecopathy(χ2=19.31,P＜0.01),the first time of the menses(F＝11.62,P＜0.01),the first time of the sex life(F＝25.76,P＜0.01),the first time of the parturition (F＝28.02,P＜0.01),the times of the pregnancy and the parturition(F1＝13.98,P1＜0.01;F2＝4.78,P2＜0.01),the culture degree(χ2＝10.70,P＜0.05),the infection of HPV(χ2＝179.95,P＜0.01),the level of the folic acid (F＝3.39,P＜0.05) and so on.The result of the logistic regression analysis showed that keeping the habit of drinking tea(OR＝0.321,β＝-1.136,P＜0.05),paying attention to the sanitation of the sex life(OR＝0.387,β＝-0.950,P＜0.05),putting off the first time of the sex life(OR＝0.551,β＝-0.596,P＜0.05),and the higher level of the folic acid (OR＝0.502,β＝-0.688,P＜0.05) were the protective factors tothe occurrence of the uterine cervix cancer.Meanwhile,the infection of the HPV(OR＝27.215,β＝3.304,P＜0.01),many times of the parturition(OR＝1.846,β＝0.613,P＜0.05) and the passive smoking (OR＝1.673,β＝0.515,P＜0.05) were the risk factors.ConclusionsWith the higher level of the folic acid,the less possibility you will get the cervical cancer.There exists many measures to prevent the happening of the cervical cancer,like keeping the healthy sex life,keeping far away from the passive smoking,not to give birth too early or too many and preventing being infected the HPV.What's more,having the good habit of drinking tea and paying attention to the supplement of the folic acid and Vitamin B12 may be the effective method to prevent the occurrence of the cervical cancer.
ABSTRACT
Objective To investigate the role of muhiplex ligation-dependent probe amplification(MLPA) in identifying fetal aneuploidy of chromosomes 13,18,21,X,and Y. Methods From June 2007 to December 2008,263 samples(prenatal diagnosis group),including amniotic or umbilical cord blood from pregnant women who required prenatal diagnosis,were processed in parallel by MLPA and conventional karyotype to detect fetal aneuploidy.Another 26 samples(fetal death group).ineluding retained abortion and fetal death,were also processed bv MLPA. Results Five cases of 21-trisomy,4 eases of 18-trisomy,1 case of 13-trisomy and 3 cases of 45,X were identified among the prenatal diagnosis group by MLPA,and the results were consistent with karyotype.Two cases of 45,X and 1 case of 18-trisomy were identified among the retained abortion and fetal death group. Conclusions MLPA is a rapid,efficient,simple,reliable and economical technique in detecting most common chromosomal aneuploidies and have important clinical value.
ABSTRACT
Cultured smooth muscle cells from bovine aortic media were incubated with hyperlipemic serum for 14 days. Lipid peroxides in the cells were higher than controls (P