Objective To investigate the effects of bone marrow mesenchymal stem cells administration on VEGF,SDF-1 and TGF-?1 expressions and heart function in myocardial infarcts rats.Methods MSCs were harvested from SD rats,cultured and passaged in vitro,then the cells were purified by density gradient centrifugation and adhesive-screening method.Rats were randomly divided into 2 groups.In the control group(n=8) the animals were treated with saline of the same volume as placebo.Four weeks after the injection,the VEGF,SDF-1 and TGF-?1 expressions and heart function were examined.Results Four weeks after the transplantation,Immunohistochemistry showed expression of VEGF and SDF-1 increased markedly in experiment group,and expression of TGF-?1 decreased.Heart function was improved in the experiment group(P

Objective To investigate the potential effect of Lactobacillus acidophilus (L. acidophilus) on prevention and treatment of neonatal mice infected with human rotavirus (HRV). Methods Sixty 4-day-old kunming mice were randomly divided into control group. HRV infected group, L. acidophilus pretreated group (treated before HRV infection ) and L. acidophilus treated group(treated after HRV infection). The manifestation and pathological changes in small intestine of neonatal mice were observed. The HRV antigen in the feces and intestines were measured by ELISA and fluorescent-focus assay, respectively. Results The severity and duration of diarrhea as well as mortality in L. acidophilus pretreated group and treated group were lower than those in HRV infected group. The duration of HRV-antigens shedding following infection was considerably prolonged in HRV infected group compared to that in L. acidophilus pretreated group and treated group. Furthermore, decreased expression of HRV antigen and little pathological changes in intestinal mucosa were found in L. acidophilus pretreated group and treated group when compared with HRV infected group. Conclusion L. acidophilus may be used as an alternative approach for the prevention and treatment of neonatal mice infected with HRV.

Background One of the major challenges in arrhythmogenic right ventricular cardiomyopathy (ARVC) ablation is ventricular tachy-cardia (VT) non-inducibility. The study aimed to assess whether fast rate (≥ 250 beats/min) right ventricular burst stimulation was useful for VT induction in patients with ARVC.Methods Ninety-one consecutive ARVC patients with clinical sustained VT that underwent electro-physiological study were enrolled. The stimulation protocol was implemented at both right ventricular apex and outflow tract as follows: Step A, up to double extra-stimuli; Step B, incremental stimulation with low rate (< 250 beats/min); Step C, burst stimulation with fast rate (≥ 250 beats/min); Step D, repeated all steps above with intravenous infusion of isoproterenol.Results A total of 76 patients had inducible VT (83.5%), among which 49 were induced by Step C, 15 were induced by Step B, 8 and 4 by Step A and D, respectively. Clinical VTs were induced in 60 patients (65.9%). Only two spontaneously ceased ventricular fibrillations were induced by Step C. Multivariate analysis showed that a narrower baseline QRS duration under sinus rhythm was independently associated with VT non-inducibility (OR: 1.1; 95% CI: 1.0–1.1;P = 0.019).ConclusionFast rate (≥ 250 beats/min) right ventricular burst stimulation provides a useful supplemental method for VT induction in ARVC patients.

Objective: To explore the safety and efficacy of left atrial (LA) endocardial vagal denervation catheter ablation for treating the patients with refractory vasovagal syncope (VVS).
Methods: A total of 57 consecutive refractory VVS patients with severe symptom and positive response to head-up tilt test (HUT) were enrolled. There were 22 male at the mean age of (43 ± 13) years. The patients had no response or couldn’t tolerate routine treatment. LA model was re-established by three-dimensional mapping system, 10 patients received high-frequency stimulation technique for ganglionated plexi (GP) ablation and 47 received regional catheter ablation at 5 anatomic sites of GP for LA endocardial vagal denervation treatment. In-operative vagal response including hypotension, sinus bradycardia or asystole were observed, the endpoint of ablation was abolition of evoked vagal relfexes. Periodical follow-up was conducted to record the syncope recurrence and to re-examine ECG and HUT in all patients.
Results: There were 52/57(91.2%) patients had positive vagal response by radiofrequency application and reached the endpoint of ablation; 4 patients couldn’t receive obvious evoked vagal relfexes. During (36 ± 22) months follow-up period, there were 52 (91.2%) cases without syncope recurrence, 11 cases still having palpitation, amaurosis and dizziness as the precursors of syncope while the symptoms were much better then they were before. No complication occurred.
Conclusion: LA endocardial vagal denervation catheter ablation is a safe and effective method for treating the patients with refractory VVS, it may also effectively prevent VVS recurrence.

Objective: To quantitatively evaluate the abnormal tense of parasympathetic nerve via measuring the heart rate deceleration capacity (DC) and heart rate variability (HRV) in patients with vasovagal syncope (VVS).
Methods: Our research included 2 groups: VVS group,n=28 patients with positive head-up tilt test treated in our hospital from 2013-06 to 2014-08 and Control group,n=30 patients without cardiovascular disorders. The DC and HRV were examined and compared between 2 groups.
Results:① The overall deceleration capacity (ODC) (9.4 ± 2.9) ms and daytime deceleration capacity (DDC) (8.9 ± 2.9) ms in VVS group were higher than those in Control group (7.5 ± 2.5) ms and (7.5 ± 2.5) ms respectively,P<0.05.② More patients in VVS group presented daytime-to-nighttime deceleration capacity ratio (DNratio) >1 than those in Control group (9/28, 32.1% vs 2/30, 6.7%),P=0.019.③ The SDNN (139.8 ± 34.0) ms, SDSD (29.9 ± 15.7) ms and rMSSD (40.9 ± 18.8) ms in VVS group were higher than those in Control group, (115.5 ± 29.4) ms, (21.8 ± 6.6) ms and (28.9 ± 8.4) ms respectively,P<0.05.④ Multivariate Logistic regression analysis indicated that ODC was positively related to vasovagal syncope occurrence (OR=2.045, 95% CI: 1.100-3.801,P=0.024).
Conclusion: VVS patients have abnormally increased indexes of DC and HRV, HDC is the predictor for vasovagal syncope occurrence.

Objective:To investigate the pathogenic gene locus and prenatal genetic diagnosis of 54 families with oculocutaneous albinism (OCA).Methods:This retrospective study enrolled 54 OCA probands and their families from Gansu Province Maternal and Child Health Care Hospital from May 2014 to May 2020. TYR gene variation screening was performed on the probands by Sanger sequencing. Those with negative results were analyzed by high-throughput sequencing, and further verification was performed on their parents by Sanger sequencing. Among the 54 families, 15 ml amniotic fluid were collected from 16 women at 18-21 gestational weeks in their subsequent pregnancy. Sanger sequencing combined with short tandem repeats sequence for linkage analysis were performed for genetic analysis. All data were analyzed using descriptive statistical analysis. Results:Out of the 54 OCA probands, 48 were diagnosed as OCA1, five were OCA2 and one was OCA4 based on the Sanger sequencing and high-throughput sequencing detection. A total of 26 different variation sites were involved in the 48 OCA1 probands, including 15 missense mutations, five nonsense mutations, three splicing mutations, and three frame-shift mutations, among which, c.929insC (29%, 28/96) was the most frequent mutation, followed by c.896G>A (11%, 11/96), c.832C>T (8%, 8/96) and c.703T>C (5%, 5/96). The diagnosis was confirmed in all 16 fetuses in the 16 families that underwent prenatal diagnosis. Five of them were affected and their mothers chose to terminate the pregnancies, the other 11 pregnancies continued to delivery, including seven heterozygous carriers and four fetuses without the same pathogenic allele as the proband. Maternal contamination was excluded in all prenatal samples using short tandem repeat for linkage analysis. All 11 children were in good health during telephone follow-up one month after birth. Postnatal validations were consistent with the prenatal tests.Conclusions:Genetic diagnosis could accurately identify various types of OCA and help to provide prenatal diagnosis and fertility consultation for subsequent pregnancies.

We designed a novel microcantilever immuosensor based on magnetic microbead, applying different-sized CdSe QDs as fluorescent probes and polystyrene magnetic microbead. The novel microcantilever immuosensor used fluorescent probes embedded polystyrene microbeads and specific antibodies on the surface of the polystyrene microbead. In addition, we studied the mechanism of the on-chip magnetic separation, the structure of micro-electromagnet and the microbead magnetization by the micro-magnetic field, the snake-shaped planar micro-electromagnet for the novel microcantilever immuosensor.
Antibodies ; analysis ; Biosensing Techniques ; instrumentation ; methods ; Cadmium Compounds ; chemistry ; Equipment Design ; Immunoassay ; instrumentation ; methods ; Magnetics ; Micro-Electrical-Mechanical Systems ; instrumentation ; Microspheres ; Nanotechnology ; Polystyrenes ; chemistry ; Quantum Dots ; Selenium Compounds ; chemistry

OBJECTIVE: To analyze the clinical data and genetic characteristics of a child with fibrocartilage hyperplasia type 1 (FBCG1). METHODS: A child who was admitted to Gansu Provincial Maternity and Child Health Care Hospital on January 21, 2021 due to severe pneumonia and suspected congenital genetic metabolic disorder was selected as the study subject. Clinical data of the child was collected, and genomic DNA was extracted from peripheral blood samples from the child and her parents. Whole exome sequencing (WES) was carried out, and candidate variants were verified by Sanger sequencing. RESULTS: The patient, a 1-month-old girl, had presented with facial dysmorphism, abnormal skeletal development, and clubbing of upper and lower limbs. WES revealed that she has harbored compound heterozygous variants c.3358G>A/c.2295+1G>A of the COL11A1 gene, which has been associated with fibrochondrogenesis. Sanger sequencing has verified that the variants have been respectively inherited from her father and mother, both of whom were phenotypically normal. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.3358G>A variant was graded as likely pathogenic (PM1+PM2_Supporting+PM3+PP3), and so was the c.2295+1G>A variant (PVS1＋PM2_Supporting). CONCLUSION The compound heterozygous variants c.3358G>A/c.2295+1G>A probably underlay the disease in this child. Above finding has facilitated definite diagnosis, genetic counseling for her family.
Female ; Humans ; Infant ; Abnormalities, Multiple ; Collagen Type XI/genetics* ; Genetic Counseling ; Genomics ; Mutation

Objective:To evaluate the curative effect of non-surgical treatment of acute upper gastrointestinal perforation and analyze the risk factors.Methods:We retrospectively reviewed medical records of patients who were diagnosed with acute upper gastrointestinal perforation from Jan 2016 to Dec 2018 in Liaocheng People's Hospital. At first, all patients were put on non-surgical treatment. According to whether or not converted to surgery, they were divided into non-surgical treatment group (163 cases) and surgery group (29 cases). Univariate analyses and multivariate analyses were conducted.Results:192 patients with acute upper gastrointestinal perforation were cured without serious complications and death. The non-surgical treatment efficiency was 84.9%. The onset time ( OR=0.238, P=0.046), heart rate ( OR=1.043, P=0.004), serum albumin ( OR=0.869, P=0.002) are independent risk factors. Conclusion:Non-surgical treatment of acute upper gastrointestinal perforation is safe and effective. Onset time, heart rate and serum albumin are independent risk factors. In patients when time of onse t>12h, heart rate >100 beats/min, hypoalbuminemia, and high level of procalcitonin , conversion to surgery should be considered.

OBJECTIVE: To explore the clinical features and genetic basis for a child with 3-methylglutaconic aciduria type VII. METHODS: A child who was diagnosed at the Gansu Provincial Maternity and Child Health Care Hospital on August 9, 2019 was selected as the study subject. Clinical data of the child, including urine gas chromatography and mass spectrometry, were collected. The child and her parents were subjected to whole exome sequencing. RESULTS: The child, a female neonate, had presented mainly with intermittent skin cyanosis, convulsions, hypomagnesemia, apnea, neutropenia after birth. Her urine 3-methylpentenedioic acid has increased to 17.53 μmol/L. DNA sequencing revealed that she has harbored compound heterozygous variants of the CLPB gene, namely c.1016delT (p.L339Rfs*5) and c.1087A>G (p.R363G), which were respectively inherited from her mother and father. Both variants were unreported previously. Based on the standards from the American College of Medical Genetics and Genomics (ACMG), the variants were respectively predicted to be pathogenic and likely pathogenic. CONCLUSION The child was diagnosed with 3-methylglutenedioic aciduria type VII. Discovery of the c.1016delT and c.1087A>G variants has enriched the mutational spectrum of the CLPB gene.
Female ; Humans ; Infant, Newborn ; Pregnancy ; Base Sequence ; Metabolism, Inborn Errors/diagnosis* ; Mutation ; Neutropenia/genetics* ; Sequence Analysis, DNA