Objective:To investigate the clinical efficacy of wrist-ankle acupuncture combined with rehabilitation for dysphagia caused by achalasia of the cricopharyngeal muscle after stroke.Methods:Sixty patients with dysphagia caused by achalasia of the cricopharyngeal muscle after stroke who received treatment in Wenzhou Hospital of Traditional Chinese Medicine from June 2019 to March 2020 were included in this study. They were randomly divided into a treatment group and a control group ( n = 30). All patients received routine drug treatment and swallowing rehabilitation training. The control group underwent routine acupuncture treatment. The treatment group received wrist-ankle acupuncture based on routine acupuncture treatment. Both groups were treated for 4 consecutive weeks. The clinical efficacy in the two groups was evaluated using the Video Fluoroscopic Swallowing Study (VFSS), Standardized Swallowing Assessment (SSA), and Swallow Quality-of-Life Questionnaire (SWAL-QOL). Results:Before treatment, there were no significant differences in VFSS, SSA, and SWAL-QOL scores between the two groups. After treatment, VFSS, SSA, and SWAL-QOL scores in the treatment group were (8.21 ± 0.77) points, (21.19 ± 1.42) points, (200.24 ± 11.12) points, and they were (6.01 ± 0.36) points, (23.31 ± 1.45) points, and (182.37 ± 12.06) points in the control group ( t = 3.26, 5.50, 6.31, all P < 0.05). Conclusion:Wrist-ankle acupuncture combined with rehabilitation is an effective treatment method for dysphagia caused by achalasia of the cricopharyngeal muscle after stroke. It can alleviate dysphagia and improve quality of life.

Objective:To investigate the expressions and clinical significance of tetraspanin CO-029 and integrin αv in intrahepatic cholangiocarcinoma (ICC ).Methods:Tissue microarray (TMA) was used to detect the expression of CO-029 and αv in 254 cases of intrahepatic cholangiocarcinoma. The relationship between the two factors and clinicopathological features, recurrence, metastasis and prognosis was analyzed.Spearman method was used to analyze their correlation.Relationship between αv and CO-029 was studied by mass spectrometry and database search,immunoprecipitation and Western blot were used to detect the coexistence.Results:Tissue microarray analysis showed that the positive expression rate of CO-029 was 51.6% (131/254), and the positive expression rate of αv was 61.4% (156/254). The expression of CO-029 and αv were closely correlated with tumor envelope, size, number and TNM stage ( P<0.05). According to the time of recurrence (TTR), the expressions of CO-029 and αv in early postoperative recurrence group (TTR <1 year) were significantly higher than those in non recurrence group (TTR ≥ 1 year). The patients with high CO-029 expression were more likely to relapse ( HR=2.01, 95% CI=1.45-2.79; P<0.001) and had shorter survival time ( HR=2.03, 95% CI=1.46-2.81; P<0.001). The patients with high expression of αv had shorter recurrence time ( HR=1.85, 95% CI=1.38-2.47; P<0.001) and shorter survival time ( HR=1.95, 95% CI=1.40-2.71; P<0.001). Co immunoprecipitation and Western blot confirmed that αv and CO-029 formed a complex. There was a positive correlation between CO-029 and αv in intrahepatic cholangiocarcinoma ( r=0.401, P<0.01). Conclusions:The differential expression of CO-029 and αv were closely related to the recurrence, metastasis and prognosis of intrahepatic cholangiocarcinoma, and CO-029 may couple with αv to form a complex to promote the invasion and metastasis of intrahepatic cholangiocarcinoma.

Objective To study the possible molecular mechanism of IL-10 in promoting Chlamydia muridarum infection in mice. Methods C57BL/6 wild-type and IL-10 gene knockout ( IL-10-/-) mice were infected with Chlamydia muridarum. Indirect immunofluorescence assay was used to detect the growth of Chlamydia muridarum in the intestinal and genital tracts. The severity of genital diseases was assessed by hydrosalpinx scoring. Expression of IFN-γand IL-2 in blood was measured by ELISA. Re-sults Compared with the wild-type group, Chlamydia clearance in the intestinal and genital tracts of IL-10-/- mice was significantly faster, and the expression of IFN-γ and IL-2 increased significantly. In addi-tion, wild-type mice showed more serious hydrosalpinx. Conclusions IL-10 delays Chlamydia trachomatis clearance and promotes Chlamydia infection through inhibiting the expression of IFN-γ and IL-2, which ag-gravates hydrosalpinx.

Objective To analyze the value of cerebral coronary view of nose tip deflection in screening fetal facial deformity in the first and second trimester. Methods All cases were divided into the 11～12+6 weeks, the 13 ～ 14+6 weeks and the 15 ～ 16+6 weeks undergone ultrasonographic examination on coronal view of nose tip deflection. The display of fetal facial structure and the detection rate of fetal facial malformation were analyzed. Results The fetal facial anatomic structures were clearly displayed. The median sagittal section ,eyes level coronal section ,retronasal triangle section ,or other sections were satisfactory in 4855 cases (97.10％). There was no Statistical difference in the display of fetal facial structures among the three groups. 69 fetus were found with facial malformations,including 31 fetus with facial malformations only,and 38 fetus combined with other abnormal struc-tures. The sensitivity,specificity,positive predictive value and negative predictive value were 93.24％,100％, 100％ and 99.90％ respectively. Conclusion The cerebral coronary view of nose tip deflection method has high detection rate and sensitivity,and is a reliable method for detecting fetal facial abnormalities in the first and second trimester.

OBJECTIVE: To explore the genetic basis for a child with supravalvular aortic stenosis. METHODS: The child and his parents were subjected to conventional G-banding karyotyping, array comparative genomic hybridization (aCGH) and multiplex ligation-dependent probe amplification (MLPA) analysis. RESULTS: No karyotypic abnormality was detected in the child and his parents. aCGH has identified a de novo 278 kb deletion encompassing the ELN gene in 7q11.23, which overlapped with the critical region of Williams-Beuren syndrome (WBS). MLPA has confirmed above findings. CONCLUSION The proband was diagnosed with atypical WBS. Deletion of the ELN gene may predispose to supravalvular aortic stenosis in the proband.
Aortic Stenosis, Supravalvular ; genetics ; Child ; Chromosome Banding ; Chromosomes, Human, Pair 7 ; genetics ; Comparative Genomic Hybridization ; Gene Deletion ; Genetic Testing ; Humans ; Williams Syndrome ; complications ; genetics

OBJECTIVE: To carry out genetic testing and prenatal diagnosis for a family affected with Duchenne muscular dystrophy (DMD). METHODS: Multiplex ligation dependent probe amplification (MLPA) was used to detect potential deletion and duplication of the Dystrophin gene. Haplotype analysis was performed using five short tandem repeat polymorphism loci (3'-STR, 5'-STR, 45-STR, 49-STR, 50-STR of the DMD gene. RESULTS: A same deletional mutation (exons 51-55) of the DMD gene was detected in two brothers but not in their mother. The patients and fetus have inherited different haplotypes of the Dystrophin gene from their mother, suggesting that the fetus was unaffected. CONCLUSION The mother was very likely to harbor germline mosaicism for the Dystrophin gene variant. Genetic testing of peripheral blood samples cannot rule out germline mosaicism in the mother. Prenatal diagnosis should be provided for subsequent pregnancies in this family.
Dystrophin ; genetics ; Exons ; Female ; Gene Deletion ; Germ-Line Mutation ; Humans ; Male ; Mosaicism ; Muscular Dystrophy, Duchenne ; genetics ; Pregnancy ; Prenatal Diagnosis

OBJECTIVE: To explore the molecular mechanism of a girl with developmental delay and intellectual disability. METHODS: Chromosomal karotypes of the child and her parents were analyzed with routine G-banding method. Their genomic DNA was also analyzed with array comparative genomic hybridization (aCGH) for chromosomal duplications/deletions. RESULTS: No karyotypic abnormality was detected in the child and her parents, while aCGH has identified a de novo 3.37 Mb deletion at 17p11.2 in the child. CONCLUSION The child was diagnosed with Smith-Magenis syndrome, for which RAI1 may be the causative gene.
Child ; Chromosome Deletion ; Chromosome Duplication ; Chromosomes, Human, Pair 17 ; genetics ; Comparative Genomic Hybridization ; Female ; Humans ; Karyotyping ; Smith-Magenis Syndrome ; genetics

OBJECTIVE: To explore the genetic basis for a pedigree affected with Bartter's syndrome (BS). METHODS: Panel-based next-generation sequencing (NGS) was carried out to detect mutation in BS-related genes SLC12A1, KCNJ1, BSND and CLCNKB. Sanger sequencing of MAGED2 gene and chromosomal microarray analysis (CMA) were also performed on the patient. Suspected mutation was validated in her family members. RESULTS: No pathogenic mutation was detected by NGS, while a 0.152 Mb microdeletion at Xp11.21 (54 834 585-54 986 301) was found in the male fetus, which removed the entire coding region of the MAGED2 gene. His mother was a heterozygous carrier of the deletion. His father and sister did not carry the same deletion. CONCLUSION The loss of the MAGED2 gene may underlie the BS in this pedigree.
Adaptor Proteins, Signal Transducing ; genetics ; Antigens, Neoplasm ; genetics ; Bartter Syndrome ; genetics ; Female ; Genetic Testing ; Heterozygote ; Humans ; Male ; Mutation ; Pedigree ; Sequence Deletion

Objective To evaluate the CT features of small lung invasive adenocarcinoma with air?containing space and its relationship with pathological types, and to explore the pathological basis of air?containing space. Methods CT and pathological data of fifty patients with surgically proven lung invasive adenocarcinoma with air?containing space in our hospital from January 2012 to December 2017 were retrospectively reviewed. CT image analysis included image features of tumor and air?containing space. Pathological analysis included pathological subtype, differentiation degree. CT features of tumor and air?containing space were compared with regard to pathological types using chi?square test or Fisher exact text. Analysis of variance was used to compare quantitative data satisfying normal distribution, while those data not satisfying normal distribution were compared with Kruskal?Wallis test. In addition, Spearman correlation was used to analyze the correlation between nodule density and pathological types. Results (1) CT features of tumors: Tumors were predominantly located in peripheral lungs (46/50). Most of the tumors were subsolid nodules (37/50). Tumor?lung interface was generally clear (46/50). Tumors are often accompanied by malignant signs such as lobulation (37/50), spicule sign (27/50), air bronchogram sign (43/50), and pleural indentation (36/50). The mean diameter of nodules ranged from 7.50 mm to 18.12 mm, with an average of (12.91±2.85)mm. The nodule density ranged from-657.00 to 73.00 HU with an average of (-213.88±206.16) HU. (2) CT features of air?containing space:Air?containing spaces were commonly solitary (37/50) and were found to be mainly in an eccentric distribution (29/37). The maximum diameter of air?containing space ranged from 1.00 to 16.00mm, and the average diameter was (4.23±3.14)mm. Air?containing spaces less than 5mm were found in 35 cases (70%), and air?containing spaces more than 5mm were found in 15 cases. (3) Comparison of CT features and corresponding pathological types: Nodule density, number of air?containing space, and type of nodule density in different pathological types were statistically different (P<0.05). There was a correlation between nodule density and pathological subtypes (r=0.371, P=0.008). Differences of nodule density, short?dimension of nodule, type of nodule density, spicule sign, pleural indentation among different tumor differentiation degrees were significant (P<0.05). The degree of tumor differentiation was negatively correlated with nodule density (r=-0.451, P=0.001). Conclusion The detection rate of air?containing space in lung invasive adenocarcinomas is 12.7%. Most small lung invasive adenocarcinomas with air?containing space are presented as peripheral subsolid nodule, and there is a certain correlation between their CT features and pathological types. The pathological basis of air?containing space was supposed to be dilated distal bronchiole induced by check?valve mechanism and destruction of alveolar structure by tumor.

OBJECTIVETo analyze the molecular mechanism and prognosis of a child with aortic stenosis and thumb aplasia.

METHODSThe karotypes of the child and his parents were analyzed with routine G-banding. Their genomic DNA was also analyzed with array comparative genomic hybridization(aCGH) for chromosomal duplications/deletions.

RESULTSNo karyotypic abnormality was detected at cytogenetic level for the child and his parents. aCGH identified a de novo 5.86 Mb deletion at 2q22.3-q23.3 in the child.

CONCLUSIONThe child was diagnosed with 2q23.1 microdeletion syndrome. MBD5 may be the key gene for the 2q23.1 microdeletion syndrome.