Preliminary exploration on operation process for autologous ozonized blood transfusion / 中国输血杂志

Autologous ozonized blood transfusion(AOBT) is a therapy of re-transfusion of 100-200 mL of autologous blood after shaking and agitation with appropriate amount of oxygen-ozone in vitro. The oxidation of blood through the strong oxidation of ozone can enhance the non-specific immune response of the body, regulate the internal environment and promote health. This therapy has been increasingly applied in clinical practice, while no unified standard for the operation process in terms of ozone concentration, treatment frequency and treatment course had been established. This operation process of AOBT is primarily explored in order to standardize the operation process and ensure its safety and efficacy.

Analysis of influencing factors of frailty in elderly patients with coronary heart disease and comparative study of screening value of related scales / 中国综合临床

Objective:To explore the influencing factors of frailty in elderly patients with coronary heart disease (CHD), and to compare and analyze the value of different frailty scales in screening elderly patients with coronary heart disease.Methods:Using cross-sectional research methods，elderly patients with coronary heart disease from November 2019 to January 2020 in the Department of Cardiology of a tertiary hospital in Zhenjiang City were selected as the research objects. The frailty status of the patients was evaluated by the frailty index scale, and the patients were divided into frailty group (54 cases) and non-frailty group (149 cases) according to the evaluation results. F-test was used for the comparison between measurement data groups conforming to normal distribution, and χ 2 test or exact probability method was used for the comparison of counting data. Multivariate Logistic regression was used to analyze the main influencing factors of elderly patients with coronary heart disease. The correlation and consistency of clinical frail scale, frail scale and frail index were compared and analyzed were analyzed by Spearman correlation and Kappa test. ROC curve was used to analyze the sensitivity, specificity and the area under the working characteristic curve. Results:The age ((78.96±6.78) years), the percentage of monocytes >10% (31.48% (17/54)), the specific index for coronary heart disease ≥4 points (57.41% (31/54)), Barthel index <100 points (85.19% (46/54)), the mini nutritional assessment scale <24 points (66.67% (36/54)) of the patients in the frail group was higher than these in non-frail group ((73.94±5.89) years old, 12.08%(18/149), 7.38%(11/149), 22.15%(33/149), 14.77%(22/149)), the differences were statistically significant (statistical values were t=5.15, χ 2=10.46, χ 2=60.45, χ 2=66.26, χ 2=52.32; P values were <0.001,0.001,<0.001,<0.001,<0.001,respectively). The results of multivariate Logistic regression analysis showed that the percentage of monocytes >10% ( OR=5.927, 95% CI:1.854-18.947), the mini nutritional assessment scale <24 ( OR=7.026, 95% CI:2.660-18.555),the specific index for coronary heart disease ≥4 points ( OR=3.333, 95% CI:1.889-26.850,) and Barthel index <100 points ( OR=15.649, 95% CI:5.403-45.321) are the main effects of frailty in elderly patients with coronary heart disease factors ( P values were 0.003,<0.001,<0.001, and <0.001, respectively). Taking the frailty index as the gold standard, the sensitivity of the clinical frailty scale and FRAIL scale were 85.19% and 85.19%, respectively, and the specificity was 90.60% and 94.63%, respectively, with no significant difference (χ 2 values were 0.000 and 1.767; all P>0.05). The Kappa of the clinical frailty scale scale was <0.75, while the Kappa of the FRAIL scale was >0.75. The consistency of the frail scale with the gold standard was better than that of the clinical frailty scale scale. Conclusion:The percentage of monocytes, the specific index for coronary heart disease, the mini nutritional assessment scale and Barthel index are the main factors affecting the frailty of elderly patients with coronary heart disease. Taking the frailty index score as the standard, the consistency between the screening results of frail scale and frailty index score is better than that of clinical frailty scale scale, which has clinical application value.

Screening for hereditary tyrosinemia and genotype analysis in newborns / 浙江大学学报·医学版

OBJECTIVE@#To analyze the results of screening for hereditary tyrosinemia (HT) in newborns and its clinical features and genotype.@*METHODS@#The HT screening was conducted among 2 188 784 newborns from November 2013 to November 2018. The tyrosine (TYR)/ succinylacetone (SA) levels were detected by tandem mass spectrometry (MS-MS). The clinical characteristics, genetic results and following up data of identified patients were analyzed.@*RESULTS@#The normal ranges (0.5%-95.5%) of TYR and SA were 34.5-280.0 μmol/L and 0.16-2.58 μmol/L, respectively. Three HT cases were confirmed with a detection rate of 1∶729 595. There was 1 case of tyrosinemia type Ⅰ (HTⅠ) (homozygous variations of c.455G>A in gene), 1 case of tyrosinemia type Ⅱ(HTⅡ) (heterozygous variations of c.890G>T and c.408+1G>A in gene), and 1 case of tyrosinemia type Ⅲ (HT Ⅲ) (homozygous variations of c.257T>C in gene). The variations of c.890G>T, c.4081G>A of and c.257T>C of were novel. The positive predictive value of the screening was 3.4%. Case 1 (HTⅠ) with TYR and SA values of 666.9 μmol/L and 3.87 μmol/L respectively, presented cholestasis, mild elevated of liver enzyme and lactic acid, who were although fed with TYR and phenylalanine free milk, but died at 2 months of age. Case 2 (HTⅡ) with higher TYR (625.6 μmol/L) and normal SA at screening, received medical milk treatment; during the 7 months of follow-up the baby showed normal score of Bayley assessment and normal TYR without eye and skin symptoms. Case 3 (HT Ⅲ) with TYR of 1035.3 μmol/L and normal SA at screening; during the 29 months of follow-up the value of TYR fluctuated from 532.1 μmol/L to 1060.3 μmol/L due to irregular medical milk treatment, while the score of Bayley assessment was normal.@*CONCLUSIONS@#HT is rare in the southern Chinese population, and the gene spectrum is scattered. Early treatment with nitisinone is recommended in children with HTⅠ, otherwise the prognosis is poor; the prognosis of children with HTⅡ is good when early treated with special diet; the prognosis of children with HTⅢ needs to be determined with more data.

Analysis of UQCRB gene mutation in a child with mitochondrial complex III deficiency / 中华医学遗传学杂志

<p><b>OBJECTIVE</b>To delineate the clinical, biochemical and genetic mutational characteristics of a child with mitochondrial complex III deficiency.</p><p><b>METHODS</b>Clinical 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.</p><p><b>RESULTS</b>The 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.</p><p><b>CONCLUSION</b>The clinical, biochemical and gene mutation characteristics of a child with mitochondrial complex III deficiency caused by mutations of the UQCRB gene have been delineated.</p>

Screening for amino acid metabolic disorders of newborns in Zhejiang province:prevalence, outcome and follow-up / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To analyze the result and follow-up data of screening for newborn amino acid metabolic disorders in Zhejiang province.</p><p><b>METHODS</b>A total of 1 861 262 newborns were screened for amino acid metabolic disorders during January 2009 and December 2016 in Zhejiang province. The screening results and the follow-up data were analyzed retrospectively.</p><p><b>RESULTS</b>One hundred and sixty four cases were diagnosed as amino acid metabolic disorders with a prevalence of 1:11 349, including 83 with hyperphenylalaninaemia (1:22 400), 29 with neonatal intrahepatic cholestasis caused by citrin deficiency (1:64 138), 16 with methionine S-adenosyltransferase deficiency (1:116 250), 9 with maple syrup urine disease (1:206 667), 8 with argininemia (1:232 500), 7 with citrullinemia type Ⅰ (1:265 700), 6 with hyperprolinemia type Ⅰ (1:310 000), and 2 with carbamylphosphate synthetase Ⅰ deficiency(1:930 000). In addition, ornithine transcarbamylase deficiency, cystathionine β-synthase deficiency, argininosucoinate aciduria and tyrosinemia type Ⅰ were detected in one patient for each, respectively. Two patients had developmental delay, 7 patients were dead, and 2 cases of maple syrup urine disease were lost to follow-up.</p><p><b>CONCLUSIONS</b>Hyperphenylalaninaemia is the most common amino acid metabolic disease in newborns in Zhejiang province. Patients with amino acid metabolic disorders identified in newborn screening program can have chance for normal growth development by intervention.</p>

Screening for newborn organic aciduria in Zhejiang province:prevalence, outcome and follow-up / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To analyze the results and follow up data of screening for newborn organic aciduria in Zhejiang province.</p><p><b>METHODS</b>The results and follow-up data of 1 861 262 newborns from Zhejiang province undergoing screening for organic aciduria during January 2009 and December 2016 were retrospectively analyzed. The acylcarnitine spectrum in urine samples was detected by tandem mass spectrum (MS/MS) and the positive patients were confirmed by urine gas chromatography mass spectrometry and/or gene analysis.</p><p><b>RESULTS</b>Ninety two cases of organic aciduria were confirmed with a prevalence of 1:20 200. Among 40 cases of methylmalonic academia (MMA), 13 (32.5%) were of MMA simple type and 27 (67.5%) were combined type. Genetic analysis showed 6 cases of MUT type and 1 case of CblB type out of 7 patients with MMA simple type, 10 cases of CblC and 1 case of CblF out of 11 patients with combined type, respectively. Six patients had propionic academia with a prevalence of 1:310 200, 7 had isovaleric academia (1:265 900), 6 had glutaric academia type 1 (1:310 200), 27 had 3-methylcrotonyl-CoA carboxylase deficiency (MCC, 1:68 900), 1 had 3-hydroxy-3-methylglutaric aciduria (1:1 861 300), 2 had β-ketothiolase deficiency (1:960 600), and 3 had biotinidase deficiency/holocarboxylase synthetase deficiency (1:620 400). Thirty-one patients had a disease onset at neonatal period, and 15 at post-neonatal period. Thirty-three patients had brain involvements or cranial imaging disorders. Three patients with MMA had kidney diseases or heomlytic uremic syndrome, and 3 had myocardial impairments. Twenty patients died during the follow-up.</p><p><b>CONCLUSIONS</b>MMA is the most common newborn organic aciduria in Zhejiang province. Except MCC, most organic aciduria may lead to metabolism decompensation, complications or even death.</p>

Screening for fatty acid oxidation disorders of newborns in Zhejiang province:prevalence, outcome and follow-up / 浙江大学学报·医学版

<p><b>OBJECTIVE</b>To screen fatty acid oxidation disorders (FAOD) in newborns in Zhejiang province.</p><p><b>METHODS</b>A total of 1 861 262 newborns were screened for FAOD in Neonatal Screening Center of Zhejiang Province during January 2009 and December 2016. The blood samples from newborns were screened by tandem mass spectrometry, and diagnosis of FAOD was confirmed by urine organic acid measurement combined with genetic analysis. The prognosis and follow-up of patients with FAOD were also evaluated.</p><p><b>RESULTS</b>Of 1 861 262 newborns screened, 121 cases of FAOD were diagnosed. Among 121 cases of FAOD, primary carnitine deficiency (PCD) was the most common type (=78, 64.5%), which was followed by short-chain acyl-CoA dehydrogenase deficiency (SCADD,=27, 22.3%), medium-chain acyl-CoA dehydrogenase deficiency (=5, 4.1%), multiple acyl-CoA dehydrogenase deficiency (MADD,=4, 3.3%), very long-chain acyl-CoA dehydrogenase deficiency (=3, 2.5%), carnitine palmitoyltransferase Ⅰ deficiency(=2, 1.7%)and carnitine palmitoyltransferase Ⅱ deficiency (CPTⅡD,=2, 1.7%). During 2-82 month follow-up, 15 patients were lost, 4 were dead (1 PCD, 1 MADD, and 2 CPTⅡD), and the remaining 102 subjects had normal intelligence and physical development without any clinical symptoms.</p><p><b>CONCLUSIONS</b>PCD and SCADD are the most common FAODs in newborns in Zhejiang province. Most of FAOD patients are asymptomatic, and have normal growth and development after early intervention and management.</p>

Efficacy of flupentixol and melitracen combined with pinaverium bromide in irritable bowel syndrome / 中国生化药物杂志

Objective To investigate the efficacy of flupentixol and melitracen combined with pinaverium bromide in the treatment of patients with irritable bowel syndrome. Methods A total of 64 patients with irritable bowel syndrome from October 2014 to October 2015 in department of gastroenterology of Zhuji People’s Hospital were collected and randomly divided into two groups, with 32 cases in each group.Patients in control group received with pinaverium bromide by oral, patients in combination group received flupentixol and melitracen by oral on the basis of control group.The gastrointestinal symptom rating scale (GSRS), self-rating anxiety scale (SAS), self-rating depression scale (SDS) score and clinical efficacy pre-and post-treatment were compared between two groups.Results Compared with pre-treatment, the main symptoms score in two groups decreased significantly (P<0.05); compared with control group, the main symptoms score in combination group decreased significantly(P <0.05).Compared with pre-treatment, the SAS and SDS scores decreased significantly(P <0.05); compared with control group, the SAS and SDS scores in combination group decreased significantly ( P <0.05 ) .There was no significant difference in total efficacy between control group and combination group ( 93.75%vs.81.25%, χ2 =1.237,P=0.266).There was no adverse event in two groups during treatment.Conclusion Flupentixol and melitracen combined with pinaverium bromide could significantly improve the anxiety and depression in the treatment of irritable bowel syndrome, which could promote the recovery of gastrointestinal function.

Impact on level of serum IL-8 and IL-18 by Helicobacter pylori eradication therapy in patients with rheumatoid arthritis / 中国免疫学杂志

Objective:To investigate the impact on the level of serum IL-8 and IL-18 by Helicobacter pylori eradication therapy in patients with rheumatoid arthritis.Methods:Helicobacter pylori were assessed by 14-Curea breath test in patients with rheumatoid arthritis.All patients were divided into Hp positive group and Hp negative group on the basis of 14-C urea breath test results.The Hp positive group were divided into anti-helicobacter pylori group and control group.The level of ESR,serum C reactive protein (CRP), RF,IL-8 and IL-18 were measured in all patients before and after 12 weeks of treament.And the number of joint swelling,joint pain/tenderness,morning stiffness time, hands grip strength were recorded before and after 12 weeks treatment.Results: 12 weeks after treatment,the effective rate in the Hp negative group and the anti-helicobacter pylori group was higher than that in the control group (84.09%vs 62.50%,χ2=5.41,81.25% vs 62.50%,χ2=4.17,P<0.05).The clinical symptoms significantly improved and the levels of ESR, C-reactive protein, RF, IL-8 and IL-18 significantly reduced in the three groups ( P<0.05 ) .The clinical symptoms improved more obviously in the Hp negative group and the anti-helicobacter pylori group than that in the control group.The levels of ESR,C-reactive protein,IL-8 and IL-18 in the Hp negative group and the anti-helicobacter pylori group was lower than that in the control group.While there was no significantly difference in the level of RF in the three groups.Conclusion:From a certain extent ,Hp eradication therapy can improve the clinical curative effect of rheumatoid arthritis.

Influence and mechanism of obesity on the onset of pubertal development in obese children / 中华实用儿科临床杂志

Timing of puberty showed a dramatic decrease in the past decades,and it depends on the gene,nutrition,environment,social economics,and so on.Childhood obesity affects both the timing of puberty and sex hormone levels.However,the influence of obesity on the timing of puberty has gender differences.Current studies show that childhood obesity accelerates the onset of puberty in girls,but it still has controversy in boys.Mechanisms of concrete have not clear,may be related to the subjectivity of standard of male sexual development and the correlation of body mass index as a substitute for male obesity is poor.Through literature review at home and abroad,this article will explain the influence of obesity on the timing of puberty,sex hormone levels and its gender differences,further explore the possible mechanisms of body fat participate in starting the gonad axis,and provide new research direction on the switch for the gonad axis.

Diagnosis, therapy and follow-up in infants with subclincal hypothyroidism--A clinical analysis of 107 cases / 中华内分泌代谢杂志

The serum TSH levels of 107 infants with subclinical hypothyroidism (SH) were > 20 mIU/L after 1-8 check-up, along with FT4, TT4, within low normal range. After given small dosage L-T4, for 4 weeks, blood TSH level obviously descended while FT4, TT4, ascended (all P <0.01). Seven cases of thyroid hypogenesis and 7 strumas were found by ultrasonography. It seems appropriate to use dosage of 3-4 μg·kg·-1·d-1 L-T4 in treating SH.