The present study, using the different catecholamines, observed the effects on plasminogen activator (PA) activity release in the vascular wall of rat hindlegs. The results showed that adrenaline perfusion induced the highest PA activity in three different catecholamines. Propranolol completely blocked PA activity induced by isoprenaline. PA activity induced by adrenaline or noradrenaline was completely inhibited by propranolol combined with phentolamine. During physiological stress the increase of plasma noradrenaline level was accompanied with higher PA activity. These data indicated that exogenous catecholamines produced a increase of PA activity via ?-adrenoreceptors stimulation mainly, as well as ?-receptors partially. The endogenous increase of catecholamines showed the same effect on fibrinolytie system.

OBJECTIVE To analyze mutation of POMT1 gene in a Chinese family affected with congenital muscular dystrophy (CMD). METHODS Peripheral blood samples of the family including one affected and two unaffected individuals, in addition with chorionic villous sample from the fetus, were collected. PCR was used to amplify exons 19 and 20 of the POMT1 gene, and the products were sequenced directly. Based on the result of genetic testing, prenatal diagnosis of the fetus was attained. RESULTS The proband was found to carry a heterozygous missense mutation c.1939G>A (p.Ala647Thr) in exon 19 of the POMT1 gene inherited from the mother and a heterozygous frameshift mutation c.2141delG (p.Trp714Ter) in exon 20 inherited from the father. Prenatal diagnosis revealed that the fetus has carried the c.1939G>A (p.Ala647Thr) missense mutation. With the disease causing mutation, the fetus was predicted to have similar phenotype as its mother. CONCLUSION The compound heterozygous mutations of c.1939G>A (p.Ala647Thr) and c.2141delG (p.Trp714Ter) probably underlie the CMD in this family. Based on the result, prenatal diagnosis may be provided.

OBJECTIVETo explore the feasibility of using PCR-based capillary electrophoresis method to analysis mutation of the TOR1A gene in a family affected with primary torsion dystonia (PTD).

METHODSPeripheral blood sample was collected from proband and amnionic fluid from her fetus for the extraction of DNA. The 5th exon of the TOR1A gene and its flanking sequences were amplified with PCR and analyzed with agarose electrophoresis, fluorescence labeled fragment analysis and Sanger sequencing.

RESULTSFluorescence labeled fragment analysis was performed through capillary electrophoresis, which showed that the proband carried a c.907_909delGAG (p.Glu303del) deletional mutation of the TOR1A gene. The result was verified by Sanger sequencing. The fetus DNA was also found with the same mutation by capillary electrophoresis, inferring that the fetus was probably affected with the disease.

CONCLUSIONThe mutation of c.907_909delGAG of the TOR1A gene was speculated as pathologic cause of proband in this family. Fragment analysis by capillary electrophoresis combined with DNA sequencing is an efficient test for small deletional mutations and feasible for its prenatal diagnosis.

Adult ; Dystonia ; diagnosis ; genetics ; Electrophoresis, Capillary ; Female ; Humans ; Molecular Chaperones ; genetics ; Mutation ; Prenatal Diagnosis ; Sequence Analysis, DNA

OBJECTIVE: To explore the clinical features and genetic etiology of a child with glycogen storage disease VI (GSD-VI). METHODS: Clinical data and laboratory results of the patient were collected. Whole exome sequencing (WES) was carried out for the patient. Candidate variant and its parental origin was verified by Sanger sequencing. RESULTS: The patient was a 3-year-and-9-month old boy whom has featured abdominal distention, hepatomegaly, short stature and elevated hepatic transaminase. WES revealed the he has harbored compound heterozygous variants of the PYGL gene, namely c.697G>A (p.Gly233Ser) and c.320dupA (p.Asn107fs). Sanger sequencing has verified that the two variants have derived from his father and mother, respectively. The c.320dupA (p.Asn107fs) variant was unreported previously. CONCLUSION The compound heterozygous variants of the PYGL gene probably underlay the GSD-VI in this patient. Above finding has enriched the spectrum of PYGL gene variants and provided a basis for the treatment and genetic counseling.
Child ; Genetic Testing ; Glycogen Storage Disease Type VI/genetics* ; Humans ; Infant ; Male ; Mutation ; Transaminases/genetics* ; Exome Sequencing

OBJECTIVE: To delineate chromosomal aberration caused by structural chromosomal abnormalities with bionano optical mapping. METHODS: Chromosomal karyotyping, bionano optical mapping and copy number variation sequencing (CNV-seq) were used to delineate the chromosomal aberration carried by a patient. RESULTS: The patient was found to have an anomalous chromosome 16 by karyotyping analysis, which was verified by bionano optical mapping and CNV-seq as loss of heterozygosity at 16p11.2-p12.2. CONCLUSION Bionano optical mapping has provided a novel tool for the detection and diagnosis of structural chromosomal aberrations.

OBJECTIVE: To detect gene inversion in two pedigrees affected with Hemophilia A by using Nanopore sequencing technology. METHODS: Peripheral blood samples were taken from members of the two pedigrees. Following extraction of genome DNA, genetic variants of the carriers were detected by Nanopore sequencing and subjected to bioinformatic analysis. RESULTS: Nanopore sequencing has identified the niece of the proband of the pedigree 1 as carrier of Hemophilia A Inv22, and the mother of the proband of the pedigree 2 as carrier of Hemophilia A Inv1, which was consistent with clinical findings. Breakpoint sites in both pedigrees were accurately mapped. Statistical analysis of the sequencing results revealed a large number of variations in the carriers' genomes including deletions, duplications, insertions, inversions and translocations. CONCLUSION Nanopore sequencing can be used to analyze gene inversions associated with Hemophilia A, which also provided a powerful tool for the diagnosis of diseases caused by gene inversions.
Chromosome Inversion/genetics* ; Hemophilia A/genetics* ; Humans ; Introns ; Nanopore Sequencing ; Pedigree

Objective? To analyze the research levels and development dynamics of discharge planning for patients with stroke in China using the bibliometric method and to provide a reference for improving the system of continued nursing care for stroke. Methods? The status quo of research into discharge planning for patients with stroke in China were explore using CNKI, Wanfang, VIP and CBM databases as the source of data. Bibliometric analysis was performed with Note Express. The external characteristics and keywords of the literature were analyzed. Results? Totally 64 literatures were included in this study, with Jiangsu, Fujian, Guangdong and Shanghai ranking the top 3 in terms of the number of literatures. The authors of 64.06% of the literatures came from university affiliated hospitals and medical colleges and universities. The number of nursing journals accounted for 52.63% of the total number of literatures, and only 40.63% of the literatures were included in the key magazine of China technology. The number of experimental research and quasi trial accounted for 71.86% of the total number of the literatures. The themes of research were mainly rehabilitation, self-management, continuous/continued nursing care and models; and the specific content of discharge planning needed to be further improved. Conclusions? There are not too many literatures on discharge planning for stroke. The development and intervention of discharge planning is not scientific or standardized yet, which should be improved based on the conditions of patients with stroke so as to establish a discharge planning model that conforms to China＇s national conditions.

To explore the method and effect of repairing the soft tissue defect of the lateral heel with the retrograde lateral supramalleolar flap pedicled with the end perforator of peroneal artery. Methods From May, 2015 to February, 2018, 16 cases of lateral calcaneal soft tissue defect were repaired with the retrograde lateral supramalleolar flap pedicled with the end perforator of peroneal artery.All wounds were treated with one-stage dilata-tion and VSD to control infection. In cases of chronic calcaneal bone infection, the bone defect formed after extensive resection of infected bone was temporarily filled with antibiotic bone cement. The area of soft tissue defect on the lat-eral heel was 3.0 cm×2.0 cm-8.0 cm×5.0 cm, and the area of flaps was 3.5 cm×2.5 cm-8.5 cm×5.5 cm. The small donor area of the flap was sutured directly, and the larger area was repaired by skin grafting. Patients with chronic calcaneal bone infection underwent bone cement removal and autogenous bone transplantation after inducing mem-brane formation 6 to 8 weeks after flap transplantation. All cases were followed-up, including 7 cases outpatient fol-low-up and 9 telephone follow-up. Results All the 16 flaps survived smoothly. The donor and recipient areas of the flaps healed primarily. All cases were followed-up for 3 to 13 months. The flaps had good shape, no swelling, similar color to heel skin and no pigmentation.Ankle flexion and extension were not restricted.Four cases with chron-ic osteomyelitis of calcaneus healed well after second-stage bone grafting, with an average healing time of 8.5 months. Conclusion The retrograde lateral supramalleolar flap with the end perforator of peroneal artery is an ideal method for repairing the soft tissue defect on the lateral heel with simple operation and reliable blood supply.

Objective To evaluate the efficacy of non-invasive prenatal screening (NIPS) in the detection of fetal aneuploidies.Methods Cell free DNA was sequenced in 5 566 pregnant women to identify the fetal aneuploidies in the First Affiliated Hospital of Zhengzhou University from January 1st,2015 to March 15th,2016.Among them,5 230 (93.96％,5 230/5 566) were singleton pregnancies and 336 (6.04％,336/5 566) were twin pregnancies.In singleton pregnancies,1 809 (34.59％,1 809/5 230) were women with advanced maternal age,and 3 421 (65.41％,3 421/5 230) were young women.The positive results of NIPS were validated by karyotyping through invasive procedures and neonatal outcomes were followed up by telephone.Results Among the 5 566 women,69 (1.24％,69/5 566) got positive NIPS results,with 66 in singleton pregnancies and 3 in twin pregnancies.Two were monochorionic diamniotic twins and 1 was dichorionic twin pregnancy.The positive predictive value of NIPS for trisomy 21,18 and 13 were 100.0％,90.9％ and 100.0％,and was 55.6％ for sex chromosome aneuploidies.There was no false negative case found during the follow-up.In the advanced maternal age group and young women group,the prevalence rates of fetal chromosomal aneuploidies were 1.11％ (20/1 809) and 0.94％ (32/3 421),respectively.In the young women with soft markers in fetal ultrasound,the prevalence of fetal chromosomal aneuploidies was 1.44％ (7/487),and in serum high risk women,it was 0.94％ (7/747).In women with the serum screening risk with cut-off value,0.89％(9/1 016) had fetal aneuploidies,and the prevalence was 0.77％(9/1 171) in volunteers.There was no statistically significant difference among these groups (P=0.636).Conclusions There is no difference in the detection rate of fetal aneuploidies between high-risk women in serum screening and volunteers in NIPS.NIPS is more suitable as a first line screening test for women without fetal ultrasound abnormalities.It should be used carefully when there is ultrasound abnormalities.

OBJECTIVE: To review the clinical data of a fetus with false positive result of non-invasive prenatal testing (NIPT) due to confined placental mosaicism (CPM). METHODS: Amniotic fluid sample was taken from a pregnant women with high risk for chromosome 16 aneuploidy for karyotyping analysis, single nucleotide polymorphism array (SNP array) and interphase fluorescence in situ hybridization (FISH). Genetic testing was also conducted on the fetal and maternal surface of the placenta, root of umbilical cord and fetal skin tissue after induced abortion. RESULTS: Cytogenetic analysis of the amniotic fluid sample yielded a normal karyotype. SNP array revealed mosaicism (20%) of trisomy 16 in the fetus. FISH confirmed the presence of mosaicism (25%) for trisomy 16. After induced labor, all sampled sites of placenta were confirmed to contain trisomy 16 by SNP array, while the analysis of fetal skin tissue yielded a negative result. CONCLUSION CPM is an important factor for false positive NIPT result. Prenatal identification of CPM and strengthened pregnancy management are important to reduce adverse pregnancy outcomes.
Amniocentesis ; Chromosomes, Human, Pair 16/genetics* ; Cytogenetic Analysis ; Female ; Fetus ; Humans ; In Situ Hybridization, Fluorescence ; Molecular Biology ; Mosaicism ; Placenta ; Pregnancy ; Prenatal Diagnosis ; Trisomy/genetics*