Quality of life in children with McCune-Albright syndrome and its influencing factors / 中华实用儿科临床杂志

Objective:To investigate the quality of life in children with McCune-Albright syndrome (MAS) and its influencing factors, so as to provide scientific basis for improving their quality of life.Methods:The clinical data of 31 children with MAS diagnosed (MAS group) and followed up in Henan Children′s Hospital from June 2015 to December 2021 were retrospectively analyzed.During the same period, 37 healthy age and sex-matched children at a ratio of 1∶1 were recruited as healthy control group.The children′s Quality of Life Universal Core Scale (PedsQL?4.0) was used for the investigation and comparative analysis.Statistical analysis was performed using the independent sample t test, Chi- square test and multiple regression analysis. Results:Compared with the healthy control group, the physiological function ( t=2.092, P<0.05), emotional function ( t=2.373, P<0.05) and total score ( t=2.360, P<0.05) of MAS group significantly decreased.Multiple regression analysis showed that physiological function was negatively correlated with the annual number of vaginal bleeding ( t=-2.367, P<0.05) and the age of first fracture ( t=-2.606, P<0.05). Social function was negatively correlated with the number of fractures ( t=-2.481, P<0.05). Conclusions:The overall quality of life of MAS children is low, especially the quality of physiological function and emotional function.The annual number of vaginal bleedings, the age of the first fracture and the number of fractures are influencing factors for the reduction of the quality of life of children with MAS.

Genetic analysis of a case with 11β hydroxylase deficiency caused by CYP11B2/CYP11B1 chimeric gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze a child with 11β hydroxylase deficiency (11β-OHD) due to CYP11B2/CYP11B1 chimeric gene.@*METHODS@#Clinical data of the child who was admitted to Henan Children's Hospital on August 24, 2020 were retrospectively analyzed. Peripheral blood samples of the child and his parents were collected and subjected to whole exome sequencing (WES). Candidate variant was verified by Sanger sequencing. RT-PCR and Long-PCR were carried out to verify the presence of chimeric gene.@*RESULTS@#The patient, a 5-year-old male, had featured premature development of secondary sex characteristics and accelerated growth, and was diagnosed with 21 hydroxylase deficiency (21-OHD). WES revealed that he has harbored a heterozygous c.1385T>C (p.L462P) variant of the CYP11B1 gene, in addition to a 37.02 kb deletion on 8q24.3. Based on the guidelines from the American College of Medical Genetics and Genomics (ACMG), the c.1385T>C (p.L462P) was rated as a likely pathogenic variant (PM2_Supporting+PP3_Moderate+PM3+PP4). The results of RT-PCR and Long-PCR suggested that CYP11B1 and CYP11B2 genes have recombined to form a CYP11B2 exon 1~7/CYP11B1 exon 7~9 chimeric gene. The patient was diagnosed as 11β-OHD and effectively treated with hydrocortisone and triptorelin. A healthy fetus was delivered following genetic counseling and prenatal diagnosis.@*CONCLUSION@#11β-OHD may be misdiagnosed as 21-OHD due to the potential CYP11B2/CYP11B1 chimeric gene, which will require multiple methods for the detection.

Whole-genome characterization and traceability analysis of the first COVID-19 outbreak caused by Omicron variant in Henan Province / 中华微生物学和免疫学杂志

Objective:To analyze the whole genome of Omicron variants causing the first local Omicron outbreak in Henan Province and to investigate the mutations in the SARS-CoV-2 genome for source tracing.Methods:Respiratory tract samples from COVID-19 cases in the Omicron outbreak in Henan Province from January 7 to 29, 2022 were subjected to whole-genome sequencing and sequence alignment analysis. Whole-genome identity, variations and evolution of the Omicron variants were analyzed.Results:Through high-throughput sequencing, the whole-genome sequences of SARS-CoV-2 were obtained from 120 cases, which accounted for 25.64% (120/468) of all COVID-19 cases in Anyang during the same period. Compared with the genome of Wuhan reference strain (NC_045512.2), there were 57-59 nucleotide mutation sites in the 120 whole genome sequences, and one or two nucleotide mutation sites were added to the shared 57 nucleotide sites. All of the 120 strains were VOC/Omicron (BA.1.1) variants and shared high homology. The whole-genome sequence obtained from the first case A contained 57 nucleotide mutation sites, while apart from the 57 identical nucleotide mutation sites, one specific mutation site (C1594T) was found in the whole-genome sequence obtained from the first case B, suggesting that the two cases were in the same transmission chain. After comparing with the database of domestic and imported cases by the Chinese Center for Disease Control and Prevention and the Henan Provincial Center for Disease Control and Prevention, it was found that the current outbreak was linked with the same transmission chain as the existing local epidemics in other provinces. Moreover, epidemiological investigation showed that on January 2, case A had come into contact with her cousin and his family who returned from an affected area outside the province.Conclusions:Based on the gene sequencing results and epidemiological investigation, the COVID-19 outbreak in Anyang city, Henan Province was a local epidemic and the source of it was a college student who returned to Anyang city from other province on December 28, 2021. These infections were linked to the same transmission chain as the existing local infection in other provinces.

Five patients with 11β-hydroxylase deficiency due to CYP11B1 gene mutation: A case study / 中华内分泌代谢杂志

Objective:To investigate the clinical and molecular characteristics of 11β-hydroxylase deficiency(11β-OHD) to improve the understanding of this disorder.Methods:The clinical manifestation, hormone level, imaging examination, characteristics of gene variation and follow-up of five patients with 11β-OHD diagnosed in Henan Children′s Hospital from 2016 to 2021 were carefully reviewed.Results:Among the 5 children, 3 were male and 2 were female, all without positive family history. The age at diagnosis was 1 year 5 months to 7 years(average 3 years and 9 months), and the bone age was 3 years 6 months to 16 years(average 10 years and 3 months). Two cases were misdiagnosed as 21-hydroxylase deficiency(21-OHD) and treated with long-term mineralocorticoids. Three patients presented with hypertension and one patient had testicular adrenal rest tumor. Adrenal CT showed bilateral adrenal hyperplasia in five patients. ACTH, 17-hydroxyprogesterone, testosterone, and androstenedione levels were increased in 5 children, and hypokalemia occurred in 1 patient. One patient carried homozygous novel missense variant, and four patients had compound heterozygous variants. Four patients carried missence mutations, two patients had deletion and one patient harbored a chimeric CYP11B2 exon1-6/CYP11B1 exon7-9. Three novel CYP11B1 mutations, including c. 1385T>C(p.L462P), c.64C>T(p.Q22*)and c. 1354G>A(p.G452R) were identified. The final height of 2 male children were 164.4 cm and 150.2 cm, respectively, and the related hormone levels of the other 3 children were normal.Conclusion:11β-OHD is easily misdiagnosed, leading to severe impairment of final height. CYP11B1 gene variation is complex and diverse, which requires variety of gene detection methods.

Effect of inhalation of sevoflurane during cardiopulmonary bypass on early postoperative brain injury in patients undergoing cardiac valve replacement / 中华麻醉学杂志

Objective:To evaluate the effect of inhalation of sevoflurane during cardiopulmonary bypass (CPB) on early postoperative brain injury in the patients undergoing cardiac valve replacement.Methods:Forty-two American Society of Anesthesiaologists physical status Ⅱ or Ⅲ patients of either sex, aged 40-70 yr, weighing 47-86 kg, scheduled for elective single valve replacement under CPB, were divided into 3 groups ( n=14 each) using a random number table method: control group (group C), combined intravenous-inhalational anesthesia group (group CA) and sevoflurane group (group S). During CPB, propofol 4-6 mg·kg -1·h -1 was intravenously infused in group C, propofol 2-3 mg·kg -1·h -1 was intravenously infused, and 0.5 MAC sevoflurane was inhaled via the membrane oxygenator in group CA, and 1.0-1.5 MAC sevoflurane was inhaled via the membrane oxygenator in group S. The anesthesia and sedation index values were maintained at 40-60 during operation in the three groups.Blood samples were taken from arteries before anesthesia induction (T 1), at 30 min and 6 and 24 h after termination of CPB (T 2-4) for determination of plasma concentrations of neuron-specific enolase (NSE) and Tau protein. Results:Compared with group C, the plasma concentration of NSE was significantly decreased at T 2, 3, and plasma concentration of Tau protein was decreased at T 2-4 in group S, and the plasma concentration of Tau protein was decreased at T 2 in group CA ( P<0.05). Compared with group CA, the plasma concentration of NSE was significantly decreased at T 2, 3, and the plasma concentration of Tau protein was decreased at T 2-4 in group S ( P<0.05). Conclusions:Inhalation of sevoflurane during CPB can reduce early postoperative brain injury to a certain extent in the patients undergoing cardiac valve replacement.

Expression and significance of serum microRNA-122 in children with nonalcoholic fatty liver disease / 中华内分泌外科杂志

Objective:To study the expression of serum microRNA-122 (miR-122) in children with non-alcoholic fatty liver disease (NAFLD) .Methods:35 NAFLD children aged 7-14 years from the department of Endocrinology and Inherited Metabolic disease, Children’s Hospital Affiliated to Zhengzhou University were collected, and 43 healthy children healthy children matched with the gender and age as the control group. The height, weight, body mass index (BMI) , waist-hip ratio (WHR) , triglyceride (TG) , cholesterol (TC) , alanine transaminase (ALT) , aspartate aminotransferase (AST) and miR-122 levels of the children in the two groups were detected and recorded.Results:There was no significant difference in age between NAFLD group (9.97±1.93 years) and control group (10.28±1.68 years) ( P=0.455) . Body weight (65.91±15.94kg) , BMI (29.93±3.77kg/m2) , WHR (0.97±0.04) , TG (1.49±0.46mmol/L) , TC (3.96±0.67mmol/L) , ALT (32.7±15.65U/L) and the level of miR-122 (2.33±1.75) in the NAFLD group was higher than that in the control group (36.93±7.54kg, 17.75±1.60kg/m 2, 0.83±0.04, 0.94±0.18mmol/L, 3.55±0.53mmol/L, 19.77±4.3U/L) , the differences were statistically significant ( P<0.05) . The levels of miR-122 in the NAFLD group were positively correlated with ALT and AST (r=0.618, 0.487, P < 0.05) . The ROC curve was used to evaluate the efficacy of miR-122 in diagnosing NAFLD, and the area under the curve of miR-122, ALT and ALT+ miR-122 in diagnosing NAFLD was 0.824, 0.727 and 0.839, respectively. MiR-122 combined with ALT had an advantage in diagnosing NAFLD. Conclusion:The levels of miR-122 in children with NAFLD were positively correlated with ALT. MiR-122 combined with ALT has clinical value in diagnosing NAFLD.

Genome characterization and traceability analysis of SARS-CoV-2 in a local outbreak / 中华微生物学和免疫学杂志

Objective:To analyze the genome characteristics and variations in nucleotides and amino acids of SARS-CoV-2 causing an outbreak in Henan Province in November 2021 and perform the traceability analysis.Methods:In this study, throat swab specimens from cases in the acute phase were collected and tested for the nucleic acids of SARS-CoV-2 by real-time fluorescent RT-PCR. SARS-CoV-2 nucleic acid-positive samples were subjected to high-throughput genome sequencing and whole-genome alignment analysis.Results:The median Ct values of ORF1ab gene and N gene in 70 positive specimens was 26.41 (15.58 to 39.27) and 24.43 (12.04 to 39.74), respectively. Compared with the sequence of Wuhan-Hu(NC_045512) reference strain, 47 to 49 nucleotide mutations sharing 47 nucleotide mutation and 41 amino acid mutations were found in 63 strains of successfully sequenced SARS-CoV-2. Nine nucleotide mutations and 12 amino acid mutations were found in the spike protein. The index case shared 47 mutations with the Russian imported cases in Henan Province on October 14 and the local cases in Jiangxi Province in October. Moreover, their genomes were highly homologous and they all belonged to the Delta variant (AY.122 evolutionary branch).Conclusions:Continuous monitoring of imported COVID-19 cases and prolonging the period of quarantine were needed to reduce the risk of local outbreak and epidemic caused by imported COVID-19 cases. Analysis of the genomic characteristics of SARS-CoV-2 and the variations in nucleotides and amino acids was conducive to trace the origin of COVID-19 outbreak quickly and provide reference for precise control.

Analysis of ALPL gene variant in a patient with infantile hypophosphatasia / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a girl featuring bone and tooth mineralization disorder, premature deciduous teeth, rickets and short stature.@*METHODS@#Genomic DNA was extracted and subjected to high-throughput whole exome sequencing. Suspected variants were confirmed by Sanger sequencing. Impact of potential variants was analyzed with bioinformatic software.@*RESULTS@#The child was found to carry compound heterozygous missense variants of the ALPL gene, including c.1130C>T (p.A377V), a known pathogenic mutation inherited from her father, and c.1300G>A (p.V434M) inherited from her mother, which was unreported previously and predicted to be likely pathogenic based on standards and guidelines from the American College of Medical Genetics and Genomics (PM2+PM5+PP3+PP4).@*CONCLUSION@#The compound heterozygous variants of c.1130C>T (p.Ala377Val) and c.1300G>A (p.Val434Met) of the ALPL gene probably underlay the disease in this child. Above finding has enriched the spectrum of ALPL gene variants.

Analysis of TBX19 gene variant in a child with congenital isolated adrenocorticotropic hormone deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with congenital isolated adrenocorticotropic hormone deficiency (IAD).@*METHODS@#Clinical characteristics of the patient was reviewed. Genomic DNA of the child was subjected to whole exome sequencing.@*RESULTS@#Genetic testing has confirmed the diagnosis of congenital IAD by identification of compound heterozygous variants of the TBX19 gene, which included a pathogenic nonsense c.535C>T (p.R179X) variant inherited from his father and a novel missense c.298C>T (p.R100C) variant inherited from his mother.@*CONCLUSION@#Congenital IAD due to variants of the TBX19 gene is a rare autosomal recessive disease. It is characterized by low plasma adrenocorticotropic hormone and cortisol levels but normal levels of other pituitary hormones. Delayed diagnosis may lead to severe early-onset adrenal failure and wrong treatment which may result in neonatal mortality. Hydrocortisone replacement is effective. Detection of pathogenic variant of TBX19 gene is the key to diagnosis.

Screening of differential metabolites in urine of adult patients with Kashin-Beck disease by non-targeted metabonomics / 中华地方病学杂志

Objective:To screen differential metabolites and metabolic pathways in urine of adult patients with Kashin-Beck disease (KBD), so as to provide scientific basis for finding specific biomarkers and pathogenesis of KBD.Methods:In Yongshou County, the KBD area in Shaanxi Province, adult KBD patients were selected as the case group, and healthy people without clinical symptoms of KBD were selected as the control group in the same disease area. The subjects' fasting mid-morning urine was collected, and liquid chromatography-mass spectrometry (LC-MS) technology was used to detect small-molecule metabolites in the urine. Multivariate statistical analysis [partial least square discriminant analysis (PLS-DA)] and comparison with KEGG and human metabonomics database (HMDB) were used to identify and screen differential metabolites and metabolic pathways in KBD patients.Results:A total of 58 subjects were included, 39 cases in the case group, including 23 males and 16 females; the age was (61.2 ± 7.8) years old; the body mass index was (22.7 ± 6.5) kg/m 2. There were 19 cases in the control group, including 10 males and 9 females; the age was (50.0 ± 9.0) years old; the body mass index was (24.3 ± 5.5) kg/m 2. Three first-order differential metabolites (HT-2 toxin, T-2 tetraol and seleno-adenosine selenomethionine) were identified and screened, which were highly related to the pathogenesis of KBD, and all were down-regulated. There were 38 second-order differential metabolites, among them, 10 were up-regulated and 28 were down-regulated. Nine differential metabolic pathways were screened, mainly involving amino acid metabolism, lipid metabolism and energy metabolism. Conclusions:The urine metabolism profiles of adult KBD patients and healthy people are significantly different, mainly involving amino acid metabolism, lipid metabolism and energy metabolism. The first-order differential metabolites HT-2 toxin, T-2 tetraol and seleno-adenosine selenomethionine are highly correlated with the pathogenesis of KBD.

Clinical and genetic analysis of an infant with aldosterone synthase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical characteristics and genetic variants in a two-month-and-one-day male infant with aldosterone synthase deficiency.@*METHODS@#Clinical data of the child was collected. Whole exome sequencing was carried out by next generation sequencing(NGS). Candidate variants were verified by Sanger sequencing.@*RESULTS@#The infant had measured 54 cm (-2.1 SD) in length and 3.9 kg (-2.8 SD) in weight, and featured recurrent vomiting, poor feeding, apathetic appearance and failure to thrive. Blood electrolyte testing showed low sodium and increased potassium. Serum cortisol, adrenocorticotrophic hormone, 17-alpha-hydroxyl progesterone, androstenedione, and testosterone were all within the normal ranges. The plasma renin activity activity was increased, and plasma aldosterone level was low. NGS revealed that the infant has harbored compound heterozygous variants of the CYP11B2 gene, namely c.1334T>G(p.Phe445Cys) inherited from his father and c.1121G>A(p.Arg374Gln) inherited from his mother. Neither variant was reported previously, and both were predicted to be deleterious for the function of the protein product.@*CONCLUSION@#The compound heterozygous variants of c.1334T>G (p.Phe445Cys) and c.1121G>A (p.Arg374Gln) of the CYP11B2 gene probably underlay the disease in this patient.

Correlation of visceral fat distribution and carotid artery elasticity in severely abdominal obese children by RF-data based quantitative analysis on vessel stiffness / 中华超声影像学杂志

Objective:To evaluate the carotid artery elasticity in severely abdominal obese children by RF-data based quantitative analysis on vessel stiffness (R-VQS), and explore the correlation between visceral fat distribution and carotid artery elasticity.Methods:Seventy severely abdominal obese children aged 7-14 years old and 55 healthy children with normal body mass index were selected as obese group and control group in Children′s Hospital Affiliated to Zhengzhou University from July 2018 to July 2019. Epicardial fat thickness (EFT), visceral fat thickness (VFT), subcutaneous fat thickness (SFT), maximum preperitoneal fat thickness (PFTmax), minimum subcutaneous fat thickness (SFTmin), perirenal fat thickness (PRFT) were measured by ultrasound. Real-time intima-media thickness (RIMT) and R-VQS were employed to evaluate common carotid intima-media thickness (IMT), systolic diameter (Diam), distance (Dist), pulse wave velocity (PWV) and hardness coefficient (HC). The correlation between fat thickness and carotid artery elasticity was analyzed.Results:There were statistically differences of common carotid IMT, elasticity parameters (IMT, Diam, Dist, PWV, HC) and fat thickness (EFT, VFT, SFT, PFTmax, SFTmin, PRFT) between two groups ( P<0.05). In obese children, PFTmax, VFT, EFT, PRFT were positively correlated with IMT, PWV, and HC (with IMT: r=0.334, 0.425, 0.415, 0.370, P<0.05; with PWV: r=0.853, 0.744, 0.590, 0.358, P<0.05; with HC: r=0.822, 0.691, 0.526, 0.320, P<0.05), and there was no correlation between SFT, SFTmin and IMT, PWV, HC( P>0.05). The degree of correlations between visceral fat thickness and carotid artery elasticity was PFTmax>VFT>EFT>PRFT, however, the correlations between EFT, PRFT and carotid elastic elasticity were weak ( r<0.7). Conclusions:R-VQS can sensitively reflect the carotid artery elasticity in severely abdominal obese children, and it can be used as an important reference indicator for early evaluation of atherosclerosis in obese children. Their visceral fat thickness (EFT, PRFT, VFT and PFTmax) have a good correlation with carotid artery elasticity, among which PFTmax has the best correlation and shows a certain clinical significance for the treatment and follow-up of obese children.

Clinical and genetic analysis of a case of dihydrolipoamide dehydrogenase deficiency caused by novel variant of DLD gene / 中华医学遗传学杂志

OBJECTIVE@#To analyze the clinical and genetic characteristics of a patient with dihydrolipoamide dehydrogenase deficiency.@*METHODS@#Potential variants of the DLD gene were detected by whole exome sequencing and verified by Sanger sequencing.@*RESULTS@#Compound heterozygous variants, c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr), were detected in the DLD gene. The c.1058T>C (p.Ile353Thr) variant was derived from his mother and known to be pathogenic. The c.704_705delTT (p.Leu235Argfs*8) variant was derived from his father and was unreported previously.@*CONCLUSION@#The compound heterozygous variants of c.704_705delTT (p.Leu235Argfs*8) and c.1058T>C (p.Ile353Thr) of the DLD gene probably underlay the disease in this patient. Above finding has facilitated genetic counseling and prenatal diagnosis for the family.

Genetic analysis of a child with fructose-1, 6 bisphosphatase deficiency / 中华医学遗传学杂志

OBJECTIVE@#To analyze the genetic variant of a child with fructose-1, 6 bisphosphatase deficiency.@*METHODS@#Potential variant of the FBP1 gene was detected by next generation sequencing and verified by Sanger sequencing.@*RESULTS@#A compound heterozygous variant, c.826-2T>C and c.490G>A (p.Gly164Ser), was detected in the FBP1 gene. Among them, the c.490G>A(p.Gly164Ser) variant was derived from his mother and known to be pathogenic. The c.826-2T>C variant was derived from his father and was not reported previously.@*CONCLUSION@#The compound heterozygous variant of c.826-2T>C and c.490G>A(p.Gly164Ser) of the FBP1 gene probably underlie the disease in this patient. Genetic testing can facilitate diagnosis and genetic counseling and prenatal diagnosis.

Mutation analysis of a pedigree affected with brachydactyly type E2 and obesity / 中华医学遗传学杂志

OBJECTIVE@#To identify pathogenic mutation in a pedigree affected with brachydactyly and obesity.@*METHODS@#Peripheral blood sample was collected for extraction of genomic DNA. Exons capture combined with next generation sequencing (NGS) was carried out to identify potential mutation. Sanger sequencing was used to verify the results.@*RESULTS@#NGS has identified a novel heterozygous missense mutation (c.125A>C, p.Gln42Pro) in the exon 1 of PTHLH gene. The result was verified by Sanger sequencing. The mutations was derived from his mother. His uncle and sister have also carried the same heterozygous mutation.@*CONCLUSION@#A novel mutation of the PTHLH gene has been identified in a pedigree affected with brachydactyly type E2 and obesity.

Determination of methyl ethyl ketone in urine by headspace gas chromatography / 中华劳动卫生职业病杂志

Objective@#To establish a method for determination of methyl ethyl ketone in urine by headspace gas chromatography.@*Methods@#In the urine sample(hereinafter referred to as urine sample), methyl ethyl ketone is pretreated by headspace technology, and a certain amount of head air is injected into the gas chromatograph, separated by capillary column, detected by hydrogen flame ionization detector, and the retention time is qualitative and the peak height is high. Peak area.@*Results@#Good linearity was in the range of 0.01 to 6.0 μg/ml with a regression equation of y=13.316x+0.8497 and γ=0.9997.The minimum detectable concentration of methyl ethyl ketone was 0.01 μg/ml. The range intra-day RSD and inter-day RSD were 2.2%-5.5% and 2.5%-6.1% respectively. Urine samples can be stored for 20 days in the refrigerator at 4 ℃.@*Conclusion@#The method has a high advantage of sensitivity and accuracy, and also easy to operate. Therefore, it is suitable for the determination of methyl ethyl ketone in urine.

Clinical analysis of 27 cases with infantile diabetes / 中华内分泌外科杂志

Objective To investigate the clinical features,diagnosis and treatment of infantile diabetes.Methods The clinical data of 27 infants with type 1 diabetes (T1DM) admitted to our hospital from Apr.2014 to Jun.2016 were retrospectively analyzed.SPSS16.0 statistical software was used to carry out t test and chisquare test on relevant data.Results The onset age of diabetes in infants and young children was 1 year to 3 years and 7 months.There were 15 males and 12 females.The onset season was mainly in winter and spring.The fasting blood glucose in cesarean section was significantly higher than that in natural production group (P＜0.05).12 cases(44.44％) were complicated with respiratory infections before the onset of the disease,including 6 cases of pathogenic detection of viruses,mainly Coxsackie virus.Among them,14 cases were admitted to hospital with polydipsia and polyuria,6 cases had fever,cough and mental retardation,7 cases had elevated blood glucose,16 cases (62.50％) and 6 cases of women with diabetic ketoacidosis (37.50％).The incidence of diabetic ketoacidosis in male diabetic patients was higher than that in females (62.50％ vs 37.50％,x2=6.49,P＜0.05).With abnormal liver function and dyslipidemia in 2 cases;myocardial enzyme abnormality in 7 cases;abnormal thyroid function in 10 cases;26 cases of electrolyte abnormality,mainly hyponatremia;2 cases of positive anti-insulin antibody and 5 cases of positive glutamic acid decarboxylase antibody.Before admission,13 (35.14％) cases were misdiagnosed,6 cases were misdiagnosed as bronchopneumonia,3 cases were misdiagnosed as central nervous system infection,3 cases were sepsis and 1 case was myocarditis.All patients were treated with insulin.After 7 to 10 days of treatment,the patient's condition improved and continued to be treated at home.Conclusions The clinical manifestations of infantile T1DM onset are not typical,and it is easy to be associated with ketoacidosis.Infection may be one of the important causes of diabetic ketoacidosis.When the child has an infection and the blood sugar level is high,attention should be paid to the occurrence of diabetic ketoacidosis,to avoid misdiagnosis.

Clinical and molecular genetic characterizations of 7 children with X-linked adrenal hypoplasia congenita / 中华实用儿科临床杂志

Objective To analyze the clinical and molecular genetic characterizations of X-linked adrenal dysplasia congenita(AHC) onset in infant.Methods Seven children (from 7 families) with X-linked AHC who were admitted to the Department of Endocrinology,Genetics and Metabolism,Children's Hospital Affiliated to Zhengzhou University,from July 2012 to June 2017 were selected.All patients were screened for dosage-sensitive-sex reversal-adrenal hypoplasia congenital critical region on the X chromosome gene1 (DAX1/NR0B1) mutations.The clinical manifestation and laboratory examination were analyzed,their clinical characterizations were summarized.Results Seven patients were all male,the onset age of the patients were from after birth to 7 months old,and 4 patients (4 families) had a family history of X-linked recessive inheritance.The clinical manifestations were skin pigmentation [100.0％ (7/7 cases)],vomiting [71.4％ (5/7 cases)],no weight gain [57.1％ (4/7 cases)] and poor spirit [28.6％ (2/7 cases)].Laboratory tests showed that hyperkalemia and hyponatremia,increased coricotrophin,normal or decreased cortisol,17α-hydroxyprogesterone,progesterone,aldosterone and dehydroepiandrosterone.Testosterone levels increased in 5 patients.The abnormalities of adrenal glands imaging could be seen in 2 patients.Two patients were misdiagnosed as congenital adrenal cortical hyperplasia.Then the definitive diagnosis were made by genetic test.DAX1/ NR0B1 gene mutations were found in all patients.Five patients were novel mutations (c.114_126del,c.872G ＞ A,c.56delG,c.884T ＞ G,c.1217delG).Conclusions The clinical manifestations of X-linked AHC with infant onset include pigmentation,poor spirit and growth retardation,which should be differentiated from congenital adrenal cortical hyperplasia.Hormone levels such as elevated blood 17α-hydroxyprogesterone and family history are the main identification points,and AHC cannot be excluded when testosterone level increases.Five novel mutations are found in this study,which enrich the gene database.

Effects of dobutamine with those of milrinone on myocardial strain in patients undergoing valve replacement surgery / 临床麻醉学杂志

Objective To compare the effects of dobutamine with those milrinone on myocardial strain in patients undergoing valve replacement surgery.Methods Fifty-five patients udergoing valve replacement surgery, 27 males and 28 females, aged 40-75 years, falling into ASA physical statusⅡ orⅢ, New York Heart Association (NYHA) ⅡorⅢ, were included in this study.They were divided into 3 groups by using a random number table:intravenous infusion dobutamine group (group D, n=18), intravenous infusion milrinone group (group M, n=20) and intravenous infusion saline group (group C, n=17).All patients were used general anesthesia.In groups D, the patients received intravenous infusion dobutamine (4μg·kg-1·min-1) for an hour starting from 15 min after termination of CPB.In group M, the patients did intravenous infusion milrinone (0.4μg·kg-1·min-1) in the same way.In group C, the patients got intravenous infusion saline also.After induction of anesthesia, these patients were recorded for hemodynamic measurement at three points after induction of anesthesia and before splitting of sternum (T0), starting from 15 min after termination of CPB (T1), intravenous infusion medicine for 30 min (T2), intravenous infusion medicine for one hour (T3):HR, CVP, cardiac output (CO), left ventricular ejection fraction (LVEF), right ventricular fractional area change (RVFAC), cardiac index (CI) and systemic vascular resistance index (SVRI) and strained indicator:global longitudinal strain of left ventricle (S-LVL), global circumferential strain of the left ventricle (S-LVM), global longitudinal strain of right ventricle (S-RV).Results Compared with group M, HR in group D at T2 and T3 was higher (P<0.05).Compared with group C, HR in group D at T3 was higher (P<0.05).And CI in group D at T2 was higher than that in groups C and M (P<0.05).Compared with groups C, S-LVMin groups D and M at T2 and T3 were stronger, S-LVL, S-RV in group D and S-RV in group M at T3 were stronger (P<0.05).Conclusion Intravenous infusion dobutamine can improve S-LVM, S-LVLand S-RV;Intravenous infusion milrinone can improve S-LVMand S-RV.

New progress in the anti-tumor mechanism of curcumin / 国际中医中药杂志

Curcumin is derived from traditional Chinese medicine turmeric and can be used for chemoprevention and treatment of various cancers. Recent studies have shown that curcumin can participate in the regulation of various molecular signal transduction pathways, regulate the levels of reactive oxygen species, and regulate the inflammatory microenvironment to inhibit the occurrence of tumors. In addition, curcumin can inhibite the proliferation of tumor cells and promote apoptosis of tumor cells. Here, the paper reviews the mechanism of action of curcumin in cancer prevention and treatment and the new progress in the clinical trials, aiming to provide a basis for research in related fields.