Objective:To determine the karyotype of a patient with mosaicism complex structural aberration of chromosome 18.Methods:A male patient with a 2-year history of infertility presented at the Center of Reproductive Medicine of the Third Hospital of Peking University in October 2019 was selected as the study subject. Clinical data of the patient was collected. Peripheral blood sample was taken for chromosomal karyotyping, copy number variation (CNV) analysis and fluorescence in situ hybridization (FISH) assay. Semen sample was taken for single sperm CNV analysis. Results:The patient was found to have a karyotype of mos 47, XY, del(18)(q21q23), + r(18)(q21q23)[84]/46, XY, del(18)(q21q23)[9]/48, XY, del(18)(q21q23), + r(18)(q21q23)×2[6]/47, XY, del(18)(q21q23), + r(18)(q21q23×2)[1]. ish 47, XY, del(18)(q21q23), + r(18)(q21q23)[84]/46, XY, del(18)(q21q23)[9]/48, XY, del(18)(q21q23), + r(18)(q21q23)×2[6]/47, XY, del(18)(q21q23), + r(18)(q21q23×2)[1]del(18)(q21q23)( D18Z1+, 18p+, 18q+, WCP18+ ), r(18)(q21q23)(WCP18+ ), r(18)(q21q23×2)(WCP18+ ). No pathogenic CNV was identified. Sequencing of 20 single sperms showed that 1 sperm was normal, 1 had yielded no result, 9 had harbored del(18q), 7 had harbored dup(18q)×2, and 2 had harbored dup(18q)×3. The dup/del fragments had both spanned approximately 33 Mb. Conclusion:It is rare for carriers of complex structural and numerical abnormalities of chromosome 18 to have a normal phenotype. Based on the accurate cytogenetic and molecular analyses and the single sperm CNV analysis, the influence of the aberrant karyotype on the gametogenesis may be evaluated.

OBJECTIVE: To determine the origin of a mosaicism small supernumerary marker chromosome (sSMC) by cytogenetic and molecular analysis. METHODS: Karyotype analysis, fluorescence in situ hybridization (FISH) and SNP-array were carried out. RESULTS: The karyotype of the patient was mos47,XX,+mar[45]/48,XX,+2mar[3]/46,XX[52]; the SNP-array result was arr[hg19]15q11.1q11.2 (20 161 372-24 314 675)×3, and the repeat fragment was about 4.15 Mb. FISH showed that approximately 50% of the cells have contained a sSMC with double D15Z1 probe site segments derived from abnormal idic(15). This sSMC did not contain SNRPN and PML probe fragments of Prader-Willi syndrome/Angelman syndrome. CONCLUSION When the patient's karyotype and phenotype are inconsistent, cytogenetic and molecular biology technologies should be combined to clarify the karyotype and gene location, so as to provide more accurate genetic consultation for the follow-up treatments.
Chromosome Disorders ; Chromosomes, Human, Pair 15 ; Comparative Genomic Hybridization ; Humans ; In Situ Hybridization, Fluorescence ; Karyotype ; Mosaicism

OBJECTIVE: To analyze a patient with infertility and a fragile site found at 16q22 by using cytogenetic methods. METHODS: Peripheral blood sample was taken from the patient and subjected to chromosomal karyotyping and single nucleotide polymorphism microarray (SNP-array) analysis. RESULTS: The patient was found to be a mosaicism for a fragile site at 16q22, which has a variable morphology and cannot be induced by folic acid treatment. No abnormality was found by SNP-array analysis. CONCLUSION A rare fragile site, which can be induced without folic acid treatment, has been identified at 16q22. The strategy of assisted reproduction for such individuals is yet to be explored.
Chromosome Fragile Sites ; Chromosome Fragility ; Chromosomes, Human, Pair 16 ; Genetic Testing ; Humans ; Karyotyping ; Mosaicism

Objective:To explore the application value of single source dual energy CT (DECT) scanning technique in improving the image quality of the pancreas.Methods:Imaging data of 21 patients with normal pancreas and 36 patients with pancreas related diseases in the First Affiliated Hospital of Naval Medical University from July 2021 to August 2021 were collected. All the patients first underwent multi-slice CT (MDCT) scan with no-contrast, and then dynamic enhanced MDCT scan. And the DECT scan was used in the delay period. Virtual single energy images (VMI, 40~100keV) of normal pancreas and mixed energy images of pancreatic lesions (PI, 80 and 140kVp) were obtained. The regions of interest (ROI) of fat on abdominal wall, normal pancreas and abdominal aorta were delineated, the CT values and standard deviation (SD) of each ROI were measured and recorded, and the pancreatic signal-to-noise ratio (SNR) and contrast-to-noise ratio (SNR) of each energy image were calculated. The objective index and subjective score of VMI(40-100keV) and PI (80kVp and 140kVp) with iodine (water) base map and VMI best CNR were compared between groups. The correlation between VMI(40-100keV) and PI(80, 140kVp) with iodine (water) base map and VMIbest CNR was analyzed by univariate regression.Results:In VMI(40-100keV) of normal pancreas, the highest SNR value was VMI best CNR and iodine (water) base map, and the highest CNR values were VMI 60keV and iodine (water) base map. There were significant differences on SNR and CNR values between different energy VMI and iodine (water) base map ( P<0.05). Among the four images of PI 80kVp, PI 140kVp, VMI best CNR and iodine (water) base map for pancreatic lesions, the SNR and CNR values of iodine (water) base map were the highest. The SNR and CNR values of VMI best CNR were higher than those of PI 80kVp, and the differences were statistically significant ( P<0.05). The lesion significance and edge sharpness score of iodine (water) base map was the highest, which was better than other groups; the lesion significance and edge sharpness score of VMI best CNR was better than PI 140kVp, and the differences were statistically significant ( P<0.05). The results of univariate regression analysis showed that the SNR values of PI 80kVp, PI 140kVp and VMI best CNR for pancreatic lesions were positively correlated with those of the iodine (water) base map ( P<0.05), the CNR values of PI 140kVp and VMI best CNR images were positively correlated with the iodine (water) base map ( P<0.05), and the SNR and CNR values of PI 140kVp were positively correlated with VMI best CNR ( P<0.05). Conclusions:VMI with different energy and iodine (water) base maps can be obtained by single source DECT enhanced scanning of pancreas related diseases. The VMI best CNR was the best among all VMIs, while the SNR and CNR values of iodine (water) base maps were the highest in all images. The VMI best CNR and iodine (water) base maps can improve the image quality of pancreas related diseases.

Objective To explore the safety and feasibility of laparoscopic hepatectomy combined with radiofrequency ablation for primary liver cancer difficult to manage.Methods A retrospective study was conducted to analyze the clinical data of 16 patients who underwent laparoscopic hepatectomy combined with radiofrequency ablation in the Zhejiang Provincial People's Hospital from Apr 2015 to Dec 2017.Results 2 more tumors were found by intraoperative laparoscopic ultrasound.All patients underwent laparoscopic hepatectomy combined with radiofrequency ablation successfully.There were 2 laparoscopic left hepatectomy combined with radiofrequency ablation,2 laparoscopic right hepatectomy combined with radiofrequency ablation,6 laparoscopic left lateral lobectomy combined with radiofrequency ablation,4 laparoscopic right postrior lobectomy combined with radiofrequency ablation and 2 irregular laparoscopic hepatectomy combined with radiofrequency ablation.The intraoperative blood loss ranged from 100-800 ml.The average operative time was (283 ± 112) min.The length of postoperative hospital stay ranged from 5 to 12 days.The tumor-free survival rate after operation is 100％ (16/16) on 6 to 38 months follow up.Conclusion It is safe and feasible to carry out laparoscopic hepatectomy combined with radiofrequency ablation in difficult to manage primary liver cancer.

Objective: To observe the efficacy and safety of 308 nm excimer light combined with compound triamcinolone acetoniazole cream in the treatment of chronic hand eczema. Methods: From February 2016 to August 2017, 62 patients with chronic hand eczema admitted to the First People's Hospital of Taicang were divided into two groups using random digital tables, with 31 cases in each group.The treatment group was given 308nm excimer light combined with compound triamcinolone acetoniazole cream.The control group was treated only with compound triamcinolone acetoniazole cream.The effect after 4 and 8 weeks of treatment were determined in both two groups. Results: After 4 and 8 weeks of treatment, the effective rates in the treatment group were 35.48% and 87.10%, respectively, which in the control group were 29.03% and 61.29%, respectively.After 8 weeks of treatment, the difference between the treatment group and the control group was statistically significant(χ²=5.39, P<0.05). Conclusion 308 nm excimer light combined with triamcinolone acetoniazole cream in the treatment of chronic hand eczema has good clinical effect and less adverse reactions, and the recurrence rate is low.

Taking the curriculum "society, the individual & medicine" in university of Ottawa faculty of medicine as an example, the cultivation models for comprehensive quality of medical students in China and Canada was compared. In University of Ottawa faculty of medicine, the curriculum "society, the individual & medicine" is throughout the whole medical education, including three themes of statistics and epidemiology related knowledge, health related issues and professional development. The varied teaching modes are combined with electronic teaching equipment and students' subjectivity in learning is emphasized. Drawing insights from the medical education in Canada, we should focus on promoting early contact and lifelong study of medical humanities curriculum for medical students, enriching the curriculum content, enhancing the curriculum practicality, diversifying the teaching methods, strengthening the teachers' training, improving the assessment system and establishing the long-term mechanism.

Objective To investigate whether metabolic pathway-related gene polymorphisms are associated with arterial plaque stability and their gene-gene interactions increase the risk of cerebral infarctions.Methods Totally 294 patients with atherothrombosis stroke admitted to the Department of Neurology, the Third Affiliated Hospital of Wenzhou Medical University from September 2010 to December 2012 were divided into a carotid vulnerable plaque group ( n=69 ) and a stable plaque group ( n=225 ) according to the results of carotid B-mode ultrasonography.A total of 282 healthy volunteers excluded carotid plaque and stroke were enrolled as well.Genetic polymorphisms of ALOX5AP and CYP3A5, CYP2C9*2, CYP2C9*3 and EPHX2 were genotyped using polymerase chain reaction and mass spectrometry analysis.The SPSS16.0 software was used to compare genotype frequencies and the generalized multifactor dimensionality reduction ( GMDR ) method was applied for gene-gene interaction analyses.Results The results showed that EPHX2 GG genotype might protect against stroke ( OR =0.520, 95% CI 0.288 -0.940, P=0.030).The distribution of CYP3A5 genotypes showed statistically significant differences (χ2 =7.284, P=0.026) between the vulnerable plaque ( AA: 5 cases, AG: 36 cases, GG: 28 cases) and stable plaque ( AA: 26 cases, AG: 77 cases, GG: 122 cases ) groups.Multivariate Logistic regression analysis showed that the GG genotype of CYP3A5 was protective factor for unstable plaques ( OR=0.405, 95%CI 0.178 -0.920, P =0.031 ).Differences in other SNPs did not reach statistical significance between the two groups.The GMDR analysis showed a significant gene-gene interaction between SG13S114 and A6986G, with scores of 10 for cross-validation consistency and 9 for the sign test (P=0.011).The best model for ischemic stroke was found to be SG13S114 AA and A6986G AA.Adjusting for age, hypertension and diabetes, the certain gene-gene interaction predicted a significantly higher risk of cerebral infarction (OR=1.804, 95%CI 1.180-2.759, P=0.006).Conclusions The EPHX2 G860A gene might be linked with the incidence of cerebral infarctions.Only a CYP3A5 gene polymorphism might be associated with carotid plaque instability in patients with stroke.The gene-gene interaction predicts a significantly higher risk of cerebral infarction.There is a 1.804-fold increased risk for ischemic stroke in individuals with these combined genetic factors.

OBJECTIVETo determine the carrier rate for common mutations causing deafness among pregnant women in order to prevent births of deaf children.

METHODSFor 893 pregnant women, 2 mL peripheral venous blood was taken and DNA was extracted. A deafness DNA microarray screening was applied to such samples, and DNA sequencing was applied to husbands of women with positive screening results.

RESULTSA total of 40 carriers were detected, with the overall mutation rate being 4.48%. Among such carriers, GJB2 235delC was the most common heterozygous mutation (18 cases) and the mutation rate was 2.02%. GJB2 299A-T heterozygous mutation was detected in 7 cases with a mutation rate of 0.78%. IVS7-2A to G heterozygous mutation was detected in 9 cases with a mutation rate of 1.02%. There were 2 cases carrying GJB3 heterozygous mutation and 2 cases of mitochondrial 12S rRNA heterozygous mutation, with a mutation rate of 0.22%. IVS7-2A>G with GJB3 538C>T double heterozygous mutation was detected in 1 case, and IVS7-2A>G with GJB2 299A-T double heterozygous mutation was detected in another case, with the mutation rate of each being 0.11%. DNA sequencing has failed to find presence of mutations in the same gene in the husbands. The results of neonatal hearing follow-up were all normal.

CONCLUSIONApplications of the deaf genes screening in pregnant women may play prove to be valuable for the early detection for neonatal deafness.

Adult ; Connexin 26 ; Connexins ; genetics ; Deafness ; diagnosis ; embryology ; genetics ; prevention & control ; Female ; Genetic Testing ; Humans ; Mutation ; Pregnancy ; Pregnancy Complications ; diagnosis ; genetics ; Prenatal Diagnosis ; RNA, Ribosomal ; genetics ; Young Adult

BACKGROUNDAmniotic fluid (AF) supernatant contains cell-free fetal DNA (cffDNA) fragments. This study attempted to take advantage of cffDNA as a new material for prenatal diagnosis, which could be combined with simple quantitative fluorescent polymerase chain reaction (QF-PCR) to provide an ancillary method for the prenatal diagnosis of trisomy 21 syndrome.

METHODSAF supernatant samples were obtained from 27 women carrying euploid fetuses and 28 women carrying aneuploid fetuses with known cytogenetic karyotypes. Peripheral blood samples of the parents were collected at the same time. Short tandem repeat (STR) fragments on chromosome 21 were amplified by QF-PCR. Fetal condition and the parental source of the extra chromosome could be determined by the STR peaks.

RESULTSThe sensitivity of the assay for the aneuploid was 93% (26/28; confidence interval, CI: 77%-98%) and the specificity was 100% (26/26; CI: 88%-100%). The determination rate of the origin of the extra chromosome was 69%. The sensitivity and the specificity of the assay in the euploid were 100% (27/27).

CONCLUSIONSTrisomy 21 can be prenatally diagnosed by the QF-PCR method in AF supernatant. This karyotype analysis method greatly reduces the requirement for the specimen size. It will be a benefit for early amniocentesis and could avoid pregnancy complications. The method may become an ancillary method for prenatal diagnosis of trisomy 21.

Amniotic Fluid ; metabolism ; Chromosomes, Human, Pair 21 ; genetics ; Down Syndrome ; diagnosis ; genetics ; Female ; Humans ; Microsatellite Repeats ; genetics ; Polymerase Chain Reaction ; methods ; Pregnancy ; Prenatal Diagnosis ; methods