Objective:To investigate the genetic etiology of a child with epilepsy accompanied by motor retardation.Methods:A patient with epilepsy and motor retardation in Henan Provincial People′s Hospital in January 2020 and his parents′ peripheral blood 2 mL were collected.G-banded karyotyping and array-based comparative genomic hybridization (aCGH) were used to analyze the duplication / deletion of chromosome segments in child and her pa-rents.Results:The karyotype of the patient revealed 46, XX, and add(19)(p13.3→qter), whereas aCGH detected a 9.50 Mb duplication at 19q13.33q13.43[arr(hg19)(49593920_59092570)×3]. This region contains 471 genes.No abnormality was discovered in the karyotyping and aCGH analysis of the patient′s parents.The phenotypes of the patient conformed to the previously reported clinical characteristics of 19q13.3 duplication.Conclusions:The de novo 19q13.3 duplication is the cause of epilepsy and motor development retardation for the patient.Combined with aCGH, the traditional G banding is valuable to diagnose the patient with developmental delay.

A in vitro platelet aggregation bioassay was developed for the quality control of XST capsules. The in vitro anti-platelet aggregation effect in rats was observed to detect the bioactivity of XST capsules. Panax notoginseng saponins and Xuesaitong lyophilizedpowder for injection were taken as standard control substances to determine the potency. According to the results, XST capsules showeda significant inhibitory effect on thrombin-induced platelet aggregation in a dose-dependent manner. The in vitro anti-platelet activity oflyophilized powder for injection was stabler than that of Panax notoginseng saponins, and so suitable to serve as a standard control substance. The biological potency of XST capsules compared with standard control substance was detected by using parallel line assay. According to the results, the established bioassay method had a good repeatability (RSD 2.92%). The sample test results could pass thereliability test(linear deviation P > 0.05, parallel deviation P > 0.05). This bioassay method could be used as one of the complementary quality control methods for XST capsules.
Animals ; Capsules ; pharmacology ; Drugs, Chinese Herbal ; pharmacology ; Male ; Panax notoginseng ; chemistry ; Platelet Aggregation ; drug effects ; Platelet Aggregation Inhibitors ; pharmacology ; Rats ; Rats, Sprague-Dawley ; Saponins ; pharmacology

Pancreatic cystic neoplasm is a general term for a large class of pancreatic tumors,including mucinous cystic neoplasm,serous cystic neoplasm,and pancreatic intraductal papillary mucinous neoplasm.Due to the limitations of the current techniques in differential diagnosis and disease staging,different centers have great discrepancies in their treatment.The 103rd annual meeting of American College of Surgeons (ACS)as a grand meeting in the field of surgery bringed together a large number of clinical research results every year.Therefore,authors selected and reviewed contents about pancreatic cystic neoplasm,with a view to provide new ideas in terms of its management and further research.

Objective To establish a capture enzyme-linked immunosorbent assay (ELISA) for detection of plague IgM antibody in herding dogs.Methods ELISA plates were coated with serum IgM antibody against dogs and F1 antibody to plague in the serum of herding dogs was detected by a sandwich ELISA.Results A total of 216 serum samples of herding dogs were tested,26 were positive for plague F1 antibody and the positive rate was 12.03％ (26/216); 14 were positive for plague IgM antibody and the positive rate was 6.48％ (14/216); IgM positive accounted for 53.8％(14/26) of all positive samples.Conclusions Serum plague IgM antibody of herding dogs can be used to predict the prevalent time and distribution of recent animal plague in plague foci indirectly,and to provide reference information for timely implementation of control measures.

BACKGROUNDMutation and expression change of p21WAF1/CIP1 may play a role in the growth of osteosarcoma. This study was to investigate the expression of the p21WAF1/CIP1 gene in human osteosarcoma, p21WAF1/CIP1 gene DNA sequence change and their relationships with the phenotype and clinical prognosis.

METHODSp21WAF1/CIP1 gene in 10 normal people and the tumours of 45 osteosarcoma patients were examined using polymerase chain reaction-single strand conformation polymorphism (PCR-SSCP) with silver staining. The PCR product with an abnormal strand was sequenced directly. The p21WAF1/CIP1 gene mRNA and P21 protein of 45 cases of osteosarcoma were investigated by using in situ hybridization and immunohistochemistry, respectively.

RESULTSThe occurrence of P21 protein in osteosarcoma was 17.78% (8/45), and p21WAF1/CIP1 mRNA expression in osteosarcoma was 42.22% (19/45). The p21WAF1/CIP1 gene DNA sequencing of amplified production showed that in p21WAF1/CIP1 gene exon 3 of 36 cases of human osteosarcoma, there were 17 cases (47.22%) with C-->T at position 609; 10 normal blood samples' DNA sequence analysis yielded 8 cases (80.00%) with C-->T at the same position.

CONCLUSIONSAlong with the increase of malignancy, the expression of p21WAF1/CIP1mRNA and P21 protein in osteosarcoma tends to decrease. It is uncommon for the p21WAF1/CIP1 gene mutation to occur in human osteosarcoma. As a result, the possible existence of tumour subtypes of p21WAF1/CIP1 gene mutation should be investigated. Our research leads to the location of p21WAF1/CIP1 gene polymorphism of Chinese osteosarcoma patients, which can provide a basis for further research.

Cyclin-Dependent Kinase Inhibitor p21 ; Cyclins ; genetics ; Humans ; Osteosarcoma ; genetics ; Polymerase Chain Reaction ; Polymorphism, Single-Stranded Conformational ; RNA, Messenger ; analysis ; Sequence Analysis, DNA

Objective To investigate iodine deficiency disorders(IDD) in Chongqing and Linzhi, and to provide scientific basis for IDD control and prevention. Methods According to the national program developed in 2007, investigation was conducted in Chengkou and Wuxi county in Chongqing municipality, and Linzhi, Bomi,Milin and Langxian county in Linzhi prefecture. Five towns were sampled in Linzhi county, and 3 in other counties.In each town, one township primary school and two village primary schools were selected to inspect thyroid by B ultrasound and palpation, and urinary iodine of children aged 8 to 10 years was tested in these schools. Meanwhile,2 villages were selected in each town for test of salt iodine level and urinary iodine of childbearing age women and search cretin cases. Results Three hundred and forty families in Chongqing and 915 families in Linzhi were investigated. The coverage of iodized salt in Chongqing was 98.82%(336/340), which was significantly higher than that in Linzhi[66.34%(607/905), x2 = 139.56, P ＜ 0.01]. Goiter rate of children in Chongqing was 9.27%(89/960) by palpation and 8.34% (61/731) by B ultrasound, while goiter rate of children in Linzhi was 7.80%(102/1308) by palpation and 5.53% (69/1248) by B ultrasound. The difference of goiter rate by palpation between Chongqing and Linzhi was not statistically significant (x2 = 1.37, P ＞ 0.05 ). But goiter rate of children by B ultrasound in Chongqing was higher than that in Linzhi (x2= 5.51, P ＜ 0.05). In Chongqing, the median urinary iodine was 319.15 μg/L, and 345.75 μg/L in Chengkou county and 281.39 μg/L in Wuxi county. In Linzhi prefecture, the median urinary iodine was 189.81 μg/L, and 207.81 μg/L in Linzhi county, 161.12 μg/L in Bomi county, 131.83 μg/L in Milin county and 334.60 μg/L in Langxian county. The median urinary iodine in childbearing women were 248.42 μg/L in Chongqing and 121.25 μg/L in Linzhi. The median urinary iodine in Chongqing both in children and women were higher than those in Linzhi. No new cretin case was found in these two areas. Conclusions Goiter rate in high risk areas of IDD in Chongqing and Linzhi has decreased to less than 10%.No new cretin case is found in these areas. It can be concluded that the work of control and prevention is effective.There is excess iodine in Chongqing. In Linzhi county and Langxian county, iodine is excess in children and deficient in women. Further investigation should be conducted to find out the reason. Population iodine is excess in Bomi and Milin counties. The concentration of salt iodine should be decreased in Chongqing. In Linzhi prefecture,adding iodine measures should be adjusted based on further investigation.

Objective:To observe the effect of electroacupuncture (EA) on the expressions of acetylcholine (ACh) and mucin 5AC (MUC5AC) in the lungs of rats with chronic obstructive pulmonary disease (COPD),and explore the mechanism of EA in treating COPD.Methods:Thirty Sprague-Dawley (SD) rats were randomly divided into a control group,a COPD group,and an EA group,with 10 rats in each group.The control group was a group of normal rats.The COPD rat model was induced by cigarette smoke combined with lipopolysaccharide (LPS).The COPD rats were treated with EA at bilateral Feishu (BL 13) and Zusanli (ST 36) in the EA group,30 min each time,once a day,successively for 14 d.The lung function was tested.The contents of ACh and MUC5AC in lungs and bronchoalveolar lavage fluid (BALF) were detected by enzyme-linked immunosorbent assay (ELISA).Pearson method was used to analyze the correlation between pulmonary function and the content of MUC5AC in lungs.The mRNA and protein expressions of MUC5AC in lung tissues were detected by real-time polymerase chain reaction (RT-PCR) and Western blot (WB),respectively.The immune response of MUC5AC was observed by immunohistochemistry.Results:Eight rats were left in each group,and the other two died.Compared with the control group,the total airway resistance (Raw) increased significantly and dynamic compliance (Cdyn) decreased significantly in the COPD group (P＜0.01);compared with the COPD group,the Raw level declined significantly and Cdyn increased significantly in the EA group (P＜0.01).The contents of ACh and MUC5AC in the lungs and BALF were remarkably higher in the COPD group compared with those in the control group (P＜0.01,P＜0.001);compared with the COPD group,the contents of ACh and MUC5AC were significantly lower in the EA group (P＜0.05,P＜0.001).There was a negative correlation between MUC5AC content and lung function (P＜0.001).The mRNA and protein expressions of MUC5AC in the lungs were significantly higher in the COPD group than in the control group (P＜0.001);compared with the COPD group,the expressions were significantly lower in the EA group (P＜0.01).Compared with the control group,the immune response of MUC5AC in the airway epithelium significantly increased in the COPD group (P＜0.001);the immune response of MUC5AC was significantly lower in the EA group compared with that in the COPD group (P＜0.001).Conclusion:EA treatment can improve the lung function of COPD rats,which may be related to its effect in the down-regulation of ACh and MUC5AC contents in the lungs as well as the inhibition of mucus hypersecretion.

OBJECTIVE: To explore the influence of uniparental disomy (UPD) on bipartite and tripartite paternity testing. METHODS: Two cases of paternity testing were analyzed by multiplex amplification and capillary electrophoresis typing. Suspected UPD was verified by using single nucleotide polymorphism array (SNP array). Parental power index was calculated by using a bipartite or tripartite model. RESULTS: The two cases were found to harbor respectively three short tandem repeats on chromosome 2 and two short tandem repeats on chromosome 15. SNP array verified that both cases were of UPD. Case 1 had a parental power index of 122274987565.23 by a tripartite model, while case 2 had a parental power index of 13500.8463 by a bipartite model. Based on the technical specification, the conclusions supported a biological parent-child relationship in both cases. CONCLUSION UPD may lead to misjudgment of paternity testing. The possibility of UPD should be considered when certain loci which do not conform to Mendelian inheritance have aggregated to one chromosome.
Chromosomes, Human, Pair 2 ; genetics ; Humans ; Microsatellite Repeats ; Paternity ; Polymorphism, Single Nucleotide ; Uniparental Disomy ; genetics

Objective: To explore the influence of uniparental disomy (UPD) on bipartite and tripartite paternity testing. Methods: Two cases of paternity testing were analyzed by multiplex amplification and capillary electrophoresis typing. Suspected UPD was verified by using single nucleotide polymorphism array (SNP array). Parental power index was calculated by using a bipartite or tripartite model. Results: The two cases were found to harbor respectively three short tandem repeats on chromosome 2 and two short tandem repeats on chromosome 15. SNP array verified that both cases were of UPD. Case 1 had a parental power index of 122274987565.23 by a tripartite model, while case 2 had a parental power index of 13500.8463 by a bipartite model. Based on the technical specification, the conclusions supported a biological parent-child relationship in both cases. Conclusion UPD may lead to misjudgment of paternity testing. The possibility of UPD should be considered when certain loci which do not conform to Mendelian inheritance have aggregated to one chromosome.

OBJECTIVETo assess the efficacy and experience of gracilis muscle transposition for complex rectovaginal fistula (RVF) and rectourethral fistula (RUF).

METHODSNineteen patients underwent gracilis muscle transposition for complex RVF and RUF from May 2009 to November 2011 in the Beijing Shijitan Hospital and the clinical data were prospectively collected. The success rate and complications were recorded. SF-36 quality of life score, Wexner fecal incontinence score, and female sexual function score before surgery and 6 months after surgery were recorded.

RESULTSIn 19 patients, there were 8 males (RUF) and 11 females (RUF). The times of failed attempt repair preoperatively ranged from 0-3 (mean, 1.0). The diameter of the fistula ranged from 0.5-3.0 cm (mean, 1.6), and all fistulas located above the sphincter. The operative time ranged from 145-400 minutes (median, 240). The postoperative hospital stay ranged from 10-39 days (median 21). Early postoperative complications included thigh pain and numbness in 2 cases, leg numbness in 2 cases. No long-term complications were noticed. The follow-up period ranged from 6-35 months (median, 18). The gracilis muscle transposition had a healing rate of 94.7% (18/19). As compared with the preoperative level, Wexner score decreased from 10.0±8.8 to 2.9±5.8, and the continence function improved significantly (P=0.002). Sexual function score of 11 female patients increased from 1.0±1.8 to 4.0±4.0, and the sexual function had a significant improvement after surgery (P=0.022). SF-36 quality of life scores improved significantly (P<0.001).

CONCLUSIONSGracilis muscle transposition for complex rectovaginal fistula and rectourethral fistula has high success rate with mild and rare complications.

Adolescent ; Adult ; Aged ; Aged, 80 and over ; Female ; Follow-Up Studies ; Humans ; Male ; Middle Aged ; Muscle, Skeletal ; surgery ; Prospective Studies ; Rectal Fistula ; surgery ; Rectovaginal Fistula ; surgery ; Surgical Flaps ; Thigh ; surgery ; Treatment Outcome ; Urethra ; surgery ; Urinary Fistula ; surgery ; Young Adult