Objective:To explore influence of preoperative tirofiban usage and using time on blood flow of infarct re-lated artery (IRA) in patients with acute ST elevation myocardial infarction (ASTEMI ) undergoing emergency di-rect percutaneous coronary intervention (PCI ) .Methods:A total of 266 ASTEMI patients undergoing direct PCI from Jan 2009 to Oct 2012 ,were randomly divided into tirofiban group (n=134 ,received preoperative tirofiban us-age for PCI) and routine treatment group (n=132 ,didn't receive tirofiban during PCI) .According to percutaneous using time of tirofiban tirofiban group was divided into <3h group (n= 63) and ≥3h group (n= 71) ;TIMI blood flow of IRA ,before and after PCI were compared among different groups .Results:Compared with routine treat-ment group before PCI ,there were significant rise in percentages of TIMI grade 3 (10.6% vs .20.9% ) in tirofiban group ,P=0.028 ;after PCI ,percentage of TIMI grade 3 in tirofiban group was more significantly rose than that of routine treatment group (78.8% vs .92.5% ,P=0.001);in tirofiban group ,blood flow of IRA before PCI in <3h group was significantly improved compared with ≥3h group (TIMI grade 2 + 3 ,63.5% vs .29.6% , P<0.01) . Conclusion:Early tirofiban usage can improve TIMI blood flow of IRA before and after PCI in ASTEMI patients , the earlier it′s used ,the more significant effect it has .

ObjectiveTo explore the screening and therapeutic efficacy of primary carnitine deficiency (PCD) in newborns and mothers.Methods164245 newborns and suspected mothers were investigated for PCD by tandem mass spectrometry (MS/MS).The overall epidemiology,prognosis,and follow-up of the screening program were investigated.ResultsTotally 55 suspected cases were identified at the primary screening stage.Four newborns and three mothers were confirmed as cases of PCD.The incidence rate of newborns was 1 ∶ 40076.All the patients showed normal growth and development during the follow-up.Blood free carnitine level was raised in all three mothers after treatment.ConclusionsScreening for PCD with MS/MS in newborns may represent a valuable procedure in preventive medicine by enabling early diagnosis and treatment before the onset of symptoms.This protocol is also highly efficient and applicable in diagnosis of mothers with PCD.

Amino Acid Metabolism, Inborn Errors ; diagnosis ; genetics ; therapy ; Death, Sudden ; etiology ; Hereditary Central Nervous System Demyelinating Diseases ; diagnosis ; etiology ; Humans ; Hydroxymethylglutaryl-CoA Synthase ; deficiency ; Infant, Newborn ; Male ; Mutation ; Oxo-Acid-Lyases ; genetics ; Spectrometry, Mass, Electrospray Ionization ; Tandem Mass Spectrometry

Objective To explore the effect of continuing nursing mode in women with stress urinary incontinence who accept the pelvic floor functional exercise at home.Methods By convenient sampling method, 60 patients with incontinence were selected, who received four weeks pelvic floor electrophysiological treatment and biofeedback treatment in Peking Union Medical College Hospital, and then received 12 weeks of pelvic floor rehabilitation therapy at home . All patients were divided into control group and observation group on average. The patients of the control group underwent routine health education, while the patients of the observation group were given pelvic floor muscle tissue by electrical stimulation and the continuation of nursing mode, then we compared two groups of maternal pelvic floor functional exercise adherence, 1 hours urine pad test for lateral leakage urine volume, ICI-Q-SF score for subjective improvement.Results After interventions, the excise compliance of pelvic floor muscle was better in the observation group than that of the control group (P<0.05); 3 and 6 months after intervention, the lateral leakage urine volumes were both decreased in two groups (P<0.05); both scores of ICI-Q-SF in two groups were improved, but that of the observation group was more obvious (P<0.05).Conclusions Planned continuing nursing mode can maintain and strengthen the clinical treatment of urinary incontinence, and increase the compliance of pelvic floor muscle function exercise in patients with urinary incontinence.

OBJECTIVETo delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency.

METHODSClinical information and results of auxiliary examination of the patient were analyzed. Next-generation sequencing of the mitochondrial genome and related nuclear genes was carried out. Suspected mutation was confirmed in both parents with Sanger sequencing. Heterozygous deletion was mapped with chromosomal microarray analysis and confirmed with real-time PCR.

RESULTSThe patient presented with vomiting, polypnea, fever, metabolic acidosis, hyperlactatemia, hypoglycemia, dysfunction of coagulation and immune system, in addition with increased lactate dehydrogenase and creatine kinase isoenzyme. Elevation of blood alanine and acylcarnitines as well as urinary ketotic dicarboxylic acid were also noted. The patient also presented development delay, mental retardation and hypotonia. Sequence analysis revealed two mutations in the nuclear gene UQCRB, which included a previously reported frameshift mutation c.306_309delAAAA(p.Arg105Lysfs*22) and a novel large deletion encompassing the entire UQCRB gene.

CONCLUSIONThe clinical, biochemical and gene mutation characteristics of a child with mitochondrial complex III deficiency caused by mutations of the UQCRB gene have been delineated.

Adult ; Base Sequence ; Carrier Proteins ; genetics ; Electron Transport Complex III ; deficiency ; genetics ; Female ; Humans ; Infant ; Male ; Mitochondrial Diseases ; genetics ; Molecular Sequence Data ; Mutation

Objective: This study aims to explore the relationships of family functioning, general well-being, and exercise with psychological distress.Furthermore, we investigated the special roles of general well-being and exercise on the association between family functioningand psychological distress. Methods: Of 769 end-stage renal disease (ESRD) patients participated in the cross-sectional study which consisted of the 12-item GeneralHealth Questionnaire (GHQ-12), the Family APGAR Scales, and the General Well-Being Schedule. The collected data were analyzedusing multiple linear regression analysis and path analysis. Results: The prevalence of psychological distress was 72.3%. Family functioning, general well-being and exercise were associated factorsof psychological distress (p<0.05). The indirect effect of family functioning on psychological distress was partially mediated by generalwell-being (Effect=-0.08, 95% CI=-0.11, -0.04). In addition, the effect of family functioning on general well-being was moderated byexercise (Index=-0.092, SE=0.033, 95% CI=-0.159, -0.029). Conclusion The prevalence of psychological distress among ESRD patients was high. Family functioning, general well-being and exercisewere associated with psychological distress. Family functioning could affect psychological distress partially by affecting general wellbeing.Furthermore, exercise had a significant moderating effect on the relationship between family functioning and general well-being.Psychiatry Investig 2020;17(4):356-365

Objective To explore the effect of mixed antibiotics on the intestinal flora of mice to affect the immune regulation of the body,explore the role of intestinal flora in the development of obesity,and provide new ideas and ways for the prevention and treatment of obesity.Methods Seventy-two 10-week-old male C57BL/6 mice were randomly divided into blank control(Ctrl)group,high-fat diet(HF)group,antibiotic(ABX)group,and combined(COMB)group(n=18).At the first 2 weeks(lavage intervention weeks),Ctrl and HF group were given normal saline gavage;ABX and COMB group were given mixed antibiotics gavage,and the gavage volume was 0.2 mL/animal/day.For the following 8 weeks(feeding weeks),Ctrl and ABX group were fed with ordinary diet,HF and COMB group were fed with high-fat diet.Body weight was measured weekly,and fasting blood glucose was measured before and after gavage,and at the 4th and 8th week of feeding.Oral glucose tolerance test was performed at the end of the experiment.The organ coefficient was measured and the cell morphology of white and brown adipose tissue was observed.Serum was collected for the determination of free fatty acid,high-density lipoprotein,low-density lipoprotein,triglyceride,and total cholesterol.Serum TNF-α,IL-10,IL-4,IL-13,IL-33 and MCP-1 was detected by ELISA.The stool of mice was collected for second generation sequencing.Results High-fat diet increased body weight,serum total cholesterol,low-density lipoprotein,IL-13,IL-33,TNF-α,MCP-1 content,and decreased glucose tolerance and organ coefficient in mice(P＜0.05).From the first feeding week to the end of the experiment,body weight in COMB group was significantly lower than that in HF group(P＜0.05).The level of glucose tolerance,serum total cholesterol,low density lipoprotein,IL-13,IL-33,TNF-α and MCP-1 in COMB group was lower than those in HF group(P＜0.05).The α diversity of intestinal flora in ABX group was lower than that in Ctrl group(P＜0.05).Congestion and bleeding in WAT were obvious in HF group,but not in COMB group.The microbial community composition of ABX and HF group was similar to that of Ctrl and COMB group,respectively.Conclusion High-fat diet induces obesity,disorder of glucose and lipid metabolism and inflammation in mice.Short-term mixed antibiotic use can regulate the intestinal flora of mice,mediate increased expression of related anti-inflammatory factors,up-regulate host immunity,and improve glucose and lipid metabolism in mice.

Objective:To investigate the efficiency of biochemical screening and hotspot gene screening in the detection of neonatal inherited metabolic diseases.Methods:This was a prospective multi-center study.The study was carried out on 21 442 neonatal samples collected from 12 hospitals in 10 provinces from November 2020 to November 2021.The results of biochemical screening and hotspot gene screening were analyzed jointly.Biochemical screening methods included glucose-6-phosphate dehydrogenase deficiency enzyme activity assay and neonatal tandem mass spectrometry.Genetic screening analysis involved 135 genes associated with 75 neonatal diseases.Results:Of all the 21 442 neonates enrolled in the study, 21 205 were subject to biochemical screening.A total of 813 cases were positive in the initial screening, and 0.45% of them (95 cases) were diagnosed after recall.All the 21 442 neonates underwent gene screening.About 168 positive cases were detected in the initial screening, and 0.73% (156 cases) of them were confirmed finally.Biochemical and genetic screening improved the detection sensitivity of such diseases as primary carnitine deficiency, neonatal intrahepatic cholestasis caused by citrin deficiency, and 2-methylbutyrylglycinemia.Moreover, biochemical and genetic screening enabled the detection of more diseases, including the common single-gene genetic diseases such as thalassemia and Wilson disease.Conclusions:In neonatal screening, the combination of biochemical screening and gene screening expands the number of diseases detected and improve screening efficiency.

Objective:To investigate the incidence, clinical characteristics and prognosis of ornithine transcarbamylase deficiency(OCTD) in newborns in Zhejiang Province.Methods:A retrospective research was conducted.A total of 4 261 036 newborns from Department of Genetics and Metabolism, Children′s Hospital, Zhejiang University School of Medicine, between January 2009 and December 2021 were screened for inherited metabolic disorders using tandem mass spectrometry.OCTD was confirmed by urine organic acid and OTC gene analysis.Patients with OTCD received guidance on diet and lifestyle management, and were treated with citrulline and arginine.Long-term follow-up was performed.Their growth and intellectual development were evaluated. Results:A total of 7 patients with OCTD were diagnosed, with an incidence of 1.6/1 million.All patients were males.Two patients had neonatal-onset OCTD, and the other 5 had late-onset OCTD.Symptoms occurred several times in 6 patients, inducing hyperammonemia and hepatic impairment.One patient had no clinical manifestation.One patient died in the neonatal period.Blood citrulline levels were decreased in 7 patients to varying degrees.Uracil levels were increased in 4 patients, and 1 of them was complicated with elevated orotic acid levels.All patients had hemizygote variations in the OTC gene, including 6 missense variations(c.604C>T, c.386G>A, c.779T>C, c.1019C>T, c.594C>G, c.931G>A) and 1 intron variation(c.514-35C>G). Two variants(c.594C>G, c.514-35C>G) were never reported previously. Conclusions:The OTCD incidence by newborn screening is low with 1.6/1 million in Zhejiang province.All patients are males and present hypocitrullinemia.The clinical manifestations of OTCD are highly heterogeneous.The neonatal-onset form is severe and survivors always suffer serious sequelae.The late-onset form is mostly manifested with hyperammonemia and hepatic impairment.There may be association between phenotype and genotype.Two novel OTC variants are identified, which further expands the mutational spectrum.

OBJECTIVE: To investigate the genetic characterization of 3-hydroxyisovalerylcarnitine (C5-OH) metabolic abnormality in neonates. METHODS: Fifty two newborns with increased C5-OH, C5-OH/C3 and C5-OH/C8 detected by tandem mass spectrometry during neonatal screening were enrolled in the study. Genomic DNA was extracted from the whole blood samples of 52 cases and their parents. Seventy-nine genes associated with genetic and metabolic diseases including , were targeted by liquid capture technique. Variation information of these genes was examined by high-throughput sequencing and bioinformatic analysis, and then was classified based on the American College of Medical Genetics and Genomics (ACMG) standards and guidelines. The genetic types were classified as wild-type, -maternal-mutation, -paternal-mutation and -mutation. Wilcoxon rank-sum test was performed for the increased multiples of C5-OH calculated in neonatal screening. RESULTS: Twenty one variants (14 novel) were identified in 37 cases, 6 variants (5 novel) in 4 cases. The increased multiple of C5-OH calculated in -maternal-mutation and -mutation groups were significantly higher than that in wild-type group (all <0.05), while there was no significant difference between MCCC1-paternal-mutation group and wild-type group (>0.05). CONCLUSIONS Mutations on and genes are the major genetic causes for the increased C5-OH in neonates, and maternal single heterozygous mutation can contribute to the moderately to severely increased C5-OH.
Carbon-Carbon Ligases ; genetics ; Carnitine ; analogs & derivatives ; metabolism ; Female ; Genetic Testing ; Genetic Variation ; Humans ; Infant, Newborn ; Male ; Mutation ; Neonatal Screening ; Urea Cycle Disorders, Inborn ; genetics