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1.
Article in English | WPRIM | ID: wpr-895384

ABSTRACT

Purpose@#The present study assessed the role of an amino acid-based formula (AAF) in the growth of infants with cow's milk protein allergy (CMPA). @*Methods@#Non-breastfed, term infants aged 0–6 months with symptoms suggestive of CMPA were recruited from 10 pediatric centers in China. After enrollment, infants were started on AAF for two weeks, followed by an open food challenge (OFC) with cow's milk-based formula (CMF). Infants with confirmed CMPA remained on AAF until 9 months of age, in conjunction with a cow's milk protein-free complementary diet. Body weight, length, and head circumference were measured at enrollment and 9 months of age. Measurements were converted to weight-for-age, length-for-age, and head circumference-for-age Z scores (WAZ, LAZ, HCAZ), based on the World Health Organization growth reference. @*Results@#Of 254 infants (median age 16.1 weeks, 50.9% male), 218 (85.8%) were diagnosed with non-IgE-mediated CMPA, 33 (13.0%) tolerated CMF, and 3 (1.2%) did not complete the OFC. The mean WAZ decreased from 0.119 to −0.029 between birth and enrollment (p=0.067), with significant catch-up growth to 0.178 at 9 months of age (p=0.012) while being fed the AAF. There were no significant changes in LAZ (0.400 vs. 0.552; p=0.214) or HCAZ (−0.356 vs. −0.284; p=0.705) from the time of enrollment to age 9 months, suggesting normal linear and head growth velocity. @*Conclusion@#The amino acid-based study formula, in conjunction with a cow's milk proteinfree complementary diet, supported normal growth till 9 months of age in a cohort of Chinese infants with challenge-confirmed non-IgE-mediated CMPA.

2.
Article in English | WPRIM | ID: wpr-903088

ABSTRACT

Purpose@#The present study assessed the role of an amino acid-based formula (AAF) in the growth of infants with cow's milk protein allergy (CMPA). @*Methods@#Non-breastfed, term infants aged 0–6 months with symptoms suggestive of CMPA were recruited from 10 pediatric centers in China. After enrollment, infants were started on AAF for two weeks, followed by an open food challenge (OFC) with cow's milk-based formula (CMF). Infants with confirmed CMPA remained on AAF until 9 months of age, in conjunction with a cow's milk protein-free complementary diet. Body weight, length, and head circumference were measured at enrollment and 9 months of age. Measurements were converted to weight-for-age, length-for-age, and head circumference-for-age Z scores (WAZ, LAZ, HCAZ), based on the World Health Organization growth reference. @*Results@#Of 254 infants (median age 16.1 weeks, 50.9% male), 218 (85.8%) were diagnosed with non-IgE-mediated CMPA, 33 (13.0%) tolerated CMF, and 3 (1.2%) did not complete the OFC. The mean WAZ decreased from 0.119 to −0.029 between birth and enrollment (p=0.067), with significant catch-up growth to 0.178 at 9 months of age (p=0.012) while being fed the AAF. There were no significant changes in LAZ (0.400 vs. 0.552; p=0.214) or HCAZ (−0.356 vs. −0.284; p=0.705) from the time of enrollment to age 9 months, suggesting normal linear and head growth velocity. @*Conclusion@#The amino acid-based study formula, in conjunction with a cow's milk proteinfree complementary diet, supported normal growth till 9 months of age in a cohort of Chinese infants with challenge-confirmed non-IgE-mediated CMPA.

3.
Article in English | WPRIM | ID: wpr-880701

ABSTRACT

The pathogenesis of very-long-chain acyl-CoA dehydrogenase (VLCAD) deficiency is highly heterogeneous and still unclear. Additional novel variants have been recently detected in the population. The molecular and cellular effects of these previously unreported variants are still poorly understood and require further characterization. To address this problem, we have evaluated the various functions and biochemical consequences of six novel missense variants that lead to mild VLCAD deficiency. Marked deficiencies in fatty acid oxidation (FAO) and other mitochondrial defects were observed in cells carrying one of these six variants (c.541C>T, c.863T>G, c.895A>G, c.1238T>C, c.1276G>A, and c.1505T>A), including reductions in mitochondrial respiratory-chain function and adenosine triphosphate (ATP) production, and increased levels of mitochondrial reactive oxygen species (ROS). Intriguingly, higher apoptosis levels were found in cells carrying the mutant VLCAD under glucose-limited stress. Moreover, the stability of the mutant homodimer was disturbed, and major conformational changes in each mutant VLCAD structure were predicted by molecular dynamics (MD) simulation. The data presented here may provide valuable information for improving management of diagnosis and treatment of VLCAD deficiency and for a better understanding of the general molecular bases of disease variability.

4.
Article in Chinese | WPRIM | ID: wpr-817900

ABSTRACT

Standardized residency training is the only way for medical students to grow into qualified doctors. Since the implementation of pediatric standardized residency training nationwide in 2014,the training has been progressing smoothly and has made remarkable achievements. In order to further adapt to the status of residential training,meet the needs of pediatric training nationwide and improve the quality of pediatric training,the Pediatric Professional Committee organized experts to brainstorm and revise the two criteria, "Pediatric Criteria for Standardized Residency Training Base" and "Pediatric Criteria for Standardized Residency Training Contents". The revision of these two criteria follows the principles of continuity,accessibility,advancement and consistency. Revision was focused on lowering the scale of the base,proposing the concept of professional group,making rotation of specialty flexible,and strengthening stratified training. We hope to improve the capability of base to improve the comprehensive ability of residential students without increasing the bed size. It is believed that the pediatric standardized residency training system will provide a solid foundation for the pediatric training through providing good policy guidance,support,and medical and educational cooperation.

5.
Article in Chinese | WPRIM | ID: wpr-817850

ABSTRACT

Medicine is a highly practical science. A high-quality clinical doctor must go through strict college education,post-graduation education and follow-up continuing education. Since the implementation of standardized resident training in 2014,great achievements have been achieved:great attention has been paid to residential training,about 500 pediatric professional training bases have been set up nationwide,and software and hardware(e.g. simulation centers and teacher training)have been upgraded. Since 2017,the state has gradually launched specialty training. In the process of promoting resident and specialty training,some problems were exposed. Hence,pediatrician training needs to be in line with the“top-level design”of national health,such as the system of tiered medical services,and family physician contract system;to handle the phases and continuity of different stages of medical education;to learn foreign excellent experience based on the national conditions of China. With good top-level design,medical and educational collaboration,learning international advanced experience based on our national conditions,a standardized medical training system with Chinese characteristics will be built,which will enhance the overall level of our medical team.

6.
Article in Chinese | WPRIM | ID: wpr-776654

ABSTRACT

OBJECTIVE@#To investigate the epidemiological characteristics, phenotype, genotype, and prognosis of medium-chain acyl-CoA dehydrogenase deficiency (MCADD) in the Chinese population.@*METHODS@#A retrospective analysis was performed for the clinical data of the neonates who underwent screening with high-performance liquid chromatography-tandem mass spectrometry from January 2009 to June 2018 and were diagnosed with MCADD by gene detection.@*RESULTS@#A total of 2 674 835 neonates underwent neonatal screening, among whom 12 were diagnosed with MCADD. Gene detection was performed for 10 neonates with MCADD and found 13 mutation types at 16 mutation sites of the ACADM gene, among which there were 7 reported mutations (p.T150Rfs*4, p.M1V, p.R206C, p.R294T, p.G310R, p.M328V, and p.G362E), 5 novel mutations (p.N194D, p.A324P, p.N366S, c.118+3A>G, and c.387+1del G), and 1 exon 11 deletion; p.T150Rfs*4 was the most common mutation (4/16). The detection rate of mutation sites in the ACADM gene was 80%. No phenotype-genotype correlation was observed. Dietary guidance and symptomatic treatment were given after confirmed diagnosis. No acute metabolic imbalance was observed within 4-82 months of follow-up. All neonates had good prognosis except one who had brain dysplasia.@*CONCLUSIONS@#MCADD is relatively rare in southern China, and p.T150Rfs*4 is a common mutation in the Chinese population. Cases with positive screening results should be evaluated by octanoylcarnitine C8 value and gene detection.


Subject(s)
Acyl-CoA Dehydrogenase , Carnitine , China , Follow-Up Studies , Humans , Infant, Newborn , Lipid Metabolism, Inborn Errors , Mutation , Neonatal Screening , Retrospective Studies
7.
Journal of Preventive Medicine ; (12): 461-464, 2016.
Article in Chinese | WPRIM | ID: wpr-792500

ABSTRACT

Objective TostudythetrendofaccidentaldeathamongchildrenunderfiveinZhejiangProvinceduringthelast tenyears,andfurthertoprovidepreventivestrategiesforreducingtheaccidentalmortalityintheregion.Methods By stratified cluster random sampling,all the children under five from 30 sampling areas of Zhejiang Province from 2005 to 201 4 were enrolled.The accidental injury mortalities were investigated by descriptive analysis and chi -square test for lineartrend.Results Theunder-fivemortalitycausedbyaccidentaldeathdemonstratedadecreasedtrendinZhejiang Province between 2005 and 201 4,from 2.52‰in 2005 to 1.48‰in 201 4.During 2005 to 201 4,the accidental mortality rate caused by accidental injuries of neonatal was reduced by 70.05%,1 -1 1 months old by 45.60%,and 1 -4 years old by 31.63% with statistical significance (P<0.05 ).The major cause of accidental death among infants was accidental asphyxia.The top cause in 1 -4 years old children was drowning,followed by traffic incidents and falls.The accidental mortality rate in rural regions decreased faster than that in urban regions.Compared with the resident population, decreasing was slower in cause -mortality rate in floating population.The gap between resident and floating population becamewiderfrom2005to2014.Conclusion Accidentalinjuriesarethemostcriticalmortalfactorstochildrenunder five.The prevention programs should be carried out especially on the floating population.The prevention of accidental asphyxia is critical to infants,while drowning and traffic incidents is critical to 1 -4 years old children.

8.
Article in Chinese | WPRIM | ID: wpr-255226

ABSTRACT

Low-density lipoprotein receptor (LDLR) and metabolic syndrome (MS) are closely correlated. Changes in LDLR expression, feedback regulation and degradation, impacts of LDLR deficiency on blood lipid levels, roles of LDLR in islet β cell dysfunction and cholesterol homeostasis dysregulation, expression of LDLR gene nuclear transcription factors and polymorphism of LDLR gene segments are all involved in the development of specific components of MS. In recent years, a variety of targets and intervention mechanisms in relation to LDLR and MS have been extensively studied. Knowledge about association between LDLR and MS may contribute to the development of strategies for prevention and treatment of MS. This article reviews the update on the association between LDLR and MS.


Subject(s)
Homeostasis , Humans , Lipid Metabolism , Lipoproteins, LDL , Metabolic Syndrome , Receptors, LDL
9.
Article in Chinese | WPRIM | ID: wpr-255169

ABSTRACT

Oncolytic virotherapy is a novel cancer therapy. Vaccine-attenuated strains of measles virus(MV)is an ideal candidate for oncolytic virotherapy which has an excellent safety record. Vaccine-attenuated MV uses CD46 and Nectin-4 molecule as major entry receptors into cells. Vaccine-attenuated MV can selectively infect and kill a wide variety of cancer cells in vitro and in vivo. With the development of molecular cloning, scientists have successfully rescued cDNA of vaccine-attenuated MV and increased its oncolytic efficiency with molecular engineering techniques. Phase I clinical trials of virotherapy for ovarian cancer and multiple myeloma with vaccine-attenuated MV are underway. The preliminary results indicate the promising antitumor potential of vaccine-attenuated MV.


Subject(s)
Clinical Trials, Phase I as Topic , Humans , Measles virus , Neoplasms , Therapeutics , Oncolytic Virotherapy
10.
Article in Chinese | WPRIM | ID: wpr-345621

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the efficacy and safety of a phenylalanine-free amino acid-based enteral formula (AA-PKU2) in the treatment of children with phenylketonuria (PKU) aged 1-8 years.</p><p><b>METHODS</b>A prospective, open, self-controlled, multi-center trial was performed, enrolling 121 PKU children (1-8 years in age) consecutively between July, 2009 and May, 2011. Enteral nutrition therapy was administered for 32 weeks. The data on blood phenylalanine (PHE) levels, metal development, weight, height, head circumference, serum nutritional biomarkers (total protein, pre-albumin, albumin, total cholesterol, total triglyceride, low-density lipoprotein cholesterol, high-density lipoprotein cholesterol), and measurements from routine blood and urine examinations and from renal and hepatic function tests were collected before the therapy and at 8 weeks and 32 weeks after the therapy and were comparatively analyzed.</p><p><b>RESULTS</b>The mean blood PHE level at 8 and 32 weeks of AA-PKU2 treatment was 353±253 and 361±280 µmol/L respectively, significantly lower than that before the treatment (487±327 µmol/L; P<0.01). The difference in intelligence quotient scores before and after AA-PKU2 treatment was not significant (P>0.05) when assessed by the Gesell tests in children aged 1-4 years but significant (P<0.01) when assessed by WPPSI or WISR-R tests in children over 4 years. The average height, weight and head circumference at 8 and 32 weeks after treatment were significantly increased as compared to these measurements before treatment (P<0.01) with absolute levels similar to those in the control children. In contrast, the mean values of total protein, pre-albumin, albumin, total cholesterol, total triglyceride, low-density lipoprotein cholesterol and high-density lipoprotein cholesterol at both time points were not different either from those prior to the treatment or from those in the control children. Mild diarrhea was the adverse events associated with AA-PKU2 treatment, which occurred in 3 (2.5%) cases. All these 3 patients fully recovered without treatment.</p><p><b>CONCLUSIONS</b>The phenylalanine-free amino acid-based formula, AA-PKU2, is effective and safe in controlling blood PHE levels and improving mental development with adequate nutritional support in PKU.</p>


Subject(s)
Child , Child, Preschool , Enteral Nutrition , Female , Humans , Infant , Intelligence , Male , Phenylalanine , Blood , Phenylketonurias , Diet Therapy , Psychology , Prospective Studies
11.
Article in Chinese | WPRIM | ID: wpr-251693

ABSTRACT

Mesenchymal stem cell (MSC) can differentiate into multiple lines in various tissues. MSC has the advantage of congenital hypoimmunogenicity and can interact with both innate and adaptive immunocytes, exerting immunoregulatory function via direct cell-cell contact and secreting soluble factors. It also can migrate to tissue injury sites to dampen inflammatory reactions. MSC can be potentially applied to treat immunological and inflammatory diseases, such as acute renal injury, immune kidney diseases, diabetic nephropathy and end-stage renal diseases. This review summarizes the biological characteristics of MSC and the prospects of its application in treatment of renal diseases.


Subject(s)
Humans , Kidney Diseases , Mesenchymal Stem Cells , Allergy and Immunology
12.
Article in Chinese | WPRIM | ID: wpr-232205

ABSTRACT

<p><b>OBJECTIVE</b>To establish a method of methylation-sensitive restriction enzymes based quantitative PCR (MSRE-qPCR) for analysis of CpG island DNA of FMR1 gene, and to assess its value for molecular diagnosis of fragile X syndrome.</p><p><b>METHODS</b>Thirty boys with mental retardation and abnormal repeats of 5'(CGG)n in the FMR1 gene and 20 mothers were analyzed by conventional PCR screening. Eag I was used to digest genomic DNA, and qPCR was performed to amplify CpG island in the FMR1 gene using both undigested and digested templates. Raw Ct values were obtained through quantitative PCR amplification. The degree of CpG island methylation was calculated by 2 - U+0394 U+0394 Ct. The result of MSRE-qPCR was verified by Southern blotting. 30 healthy females and 30 healthy males were used as controls to optimize the established MSRE-qPCR method.</p><p><b>RESULTS</b>The ranges of 2 - U+0394 U+0394 Ct value for normal methylation, partial methylation and full methylation were determined. Among the 30 patients, 3 were found to have partial methylation of CpG island of the FMR1 gene, and 27 were found to have full methylation (3/30 results were verified by Southern blotting). Only 7 mothers were found abnormal methylation of CpG island of FMR1 gene, whilst the remaining 13 mothers were normal.</p><p><b>CONCLUSION</b>MSRE-qPCR is a quick and reliable method for quantitative analysis of CpG island methylation status in FMR1 gene, which may provide a new strategy for the diagnosis of fragile X syndrome.</p>


Subject(s)
CpG Islands , DNA Methylation , Female , Fragile X Mental Retardation Protein , Genetics , Fragile X Syndrome , Diagnosis , Genetics , Humans , Male , Sex Factors
13.
Chinese Journal of Pediatrics ; (12): 498-503, 2012.
Article in Chinese | WPRIM | ID: wpr-355937

ABSTRACT

<p><b>OBJECTIVE</b>To determine the relationship between maternal and neonatal vitamin D status and related factors.</p><p><b>METHOD</b>Serum 25-(OH)D levels were measured by ELISA in 499 pregnant women at 30 - 37 weeks gestation and in cord blood of their infants born at term (37 - 42 wk gestation) in Southeastern China at 28.9°N latitude. One-way analysis of variance (ANOVA) was used to explore maternal and neonatal vitamin D levels by season. Pearson linear and linear regression of partial correlation was used to analyze the relationship between maternal and neonatal 25-(OH) D levels. The multiple factors related to maternal vitamin D status was assessed by binary logistic regression.</p><p><b>RESULT</b>The levels of serum 25-(OH)D were (33.0 ± 13.4) nmol/L in mothers and (31.0 ± 12.5) nmol/L in their newborns. Serum 25-(OH)D < 50 nmol/L was shown in 88.8% of mothers and 91.2% of their neonates. Both maternal and neonatal 25-(OH)D levels varied with season (Ps = 0.000). Vitamin D level was the lowest in spring, with the 25-(OH)D concentration < 50 nmol/L in 98.6% of mothers and 99.3% of their neonates. The highest vitamin D level was presented in fall, but there were still 64.0% of mothers and 75.0% of neonates with 25-(OH)D < 50 nmol/L. Except for season, calcium-vitamin D supplement and intake of egg ≥ 600 g per week during pregnancy benefited to improve maternal vitamin D level [25-(OH)D ≥ 50 nmol/L] [OR = 2.3 (95%CI:1.0, 5.3), 3.4 (95%CI:1.2, 9.9) respectively]. There was a positive correlation between maternal and neonatal 25-(OH)D measures in the sample as a whole (r = 0.45, P = 0.000, N = 499), the correlation was of no statistical significance when maternal serum 25-(OH)D was ≤ 25 nmol/L.</p><p><b>CONCLUSION</b>Hypovitaminosis D was common in late pregnant mothers and their newborns in southeastern China, especially in spring. Vitamin D supplement and intake of vitamin D-rich food were beneficial to improvement of maternal vitamin D level. There was a moderate and positive correlation between maternal and neonatal 25-(OH)D concentrations in this population. The correlation was lost when maternal serum 25-(OH)D ≤ 25 nmol/L.</p>


Subject(s)
Adult , Calcium , Blood , Dietary Supplements , Female , Fetal Blood , Chemistry , Metabolism , Humans , Infant, Newborn , Blood , Male , Maternal Nutritional Physiological Phenomena , Nutritional Status , Pregnancy , Blood , Pregnancy Complications , Blood , Pregnancy Trimester, Third , Regression Analysis , Risk Factors , Seasons , Sunlight , Vitamin D , Blood , Vitamin D Deficiency , Blood , Young Adult
14.
Chinese Journal of Pediatrics ; (12): 767-770, 2012.
Article in Chinese | WPRIM | ID: wpr-348541

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the association of Ureaplasma urealyticum (UU) infection with the incidence of bronchopulmonary dysplasia (BPD), to compare the clinical manifestations and prognosis of BPD infants with or without Ureaplasma urealyticum infection.</p><p><b>METHOD</b>Data were retrospectively collected between January 2004 and June 2011. All infants whose gestational age was ≤ 32 w and survived at 36 w were included in this study. Endotracheal aspirates were collected for UU polymerase chain reaction (PCR) within the first 48 hr of life. Statistical analyses were performed by using SPSS 11.5 software. The clinical characteristics of infants in the two groups were compared. The association of UU infection and BPD was analyzed and the clinical manifestations and prognosis of BPD in the two groups were compared.</p><p><b>RESULT</b>The results of PCR for UU were positive while that for other pathogens were negative in 168 infants whose chest X rays confirmed pulmonary inflammatory changes (UU group). The results of PCR for UU were negative in 393 infants (non-UU group). Except for premature rupture of membranes >24 hr, the rates of vaginal delivery, neonatal respiratory distress syndrome (NRDS) and surfactant use, there was no significant difference in the demographics and other baseline clinical characteristics of the two groups. The incidence of BPD was higher in UU group than in non-UU group and there was statistically significant difference in severity of BPD (P = 0.044, 0.031). The infants had been followed up until they were 1 year old. Compared to infants in non-UU group, infants in UU group showed no significant differences in the rate of death of pulmonary infection in moderate and severe BPD infants, the same as the rates of BPD infants hospitalized again or hospitalized more than 2 times because of pulmonary infection or/and wheezing episode in the first year after birth.</p><p><b>CONCLUSION</b>Preterm infants infected with UU were more likely to have BPD than non-UU infants. BPD infants associated with UU infection were more severe than that in non-UU infants. Prognosis of BPD infants associated with UU infection was similar to that of the infants whose BPD was not associated with UU infection.</p>


Subject(s)
Bronchopulmonary Dysplasia , Epidemiology , Female , Humans , Infant , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases , Epidemiology , Male , Prognosis , Retrospective Studies , Risk Factors , Severity of Illness Index , Ureaplasma Infections , Epidemiology , Ureaplasma urealyticum
15.
Chinese Medical Journal ; (24): 702-704, 2012.
Article in English | WPRIM | ID: wpr-262543

ABSTRACT

<p><b>BACKGROUND</b>It has been 11 years since newborn screening started in Zhejiang in 1999. The aim of this study was to analyze and summarize the status of newborn screening in Zhejiang from 1999 to 2009.</p><p><b>METHODS</b>Blood samples were collected from the heels of newborns 72 hours after birth. We have conducted laboratory tests that the congenital hypothyroidism (CH) and circulating levels of thyroid-stimulating hormone (TSH) was detected. Blood phenylalanine (Phe) was detected for phenylketonuria (PKU). Dissociation-enhanced lanthanide fluorescent immunoassay (DELFIA) was used for detection.</p><p><b>RESULTS</b>From 1999 to 2009, 3 875 228 newborns were screened and 2309 cases were confirmed as CH and 155 cases were confirmed as PKU. The incidence of CH and PKU were 1:1678 and 1:25 001 respectively.</p><p><b>CONCLUSION</b>In 11 years, the Zhejiang newborn screening center screened more than 3.8 million newborns, and helped more than 2000 CH and PKU patients to obtain early treatment in order to prevent physical disability and mental retardation.</p>


Subject(s)
China , Congenital Hypothyroidism , Diagnosis , Humans , Infant, Newborn , Neonatal Screening , Methods , Phenylketonurias , Diagnosis
16.
Article in Chinese | WPRIM | ID: wpr-262427

ABSTRACT

<p><b>OBJECTIVE</b>The purpose of this prospective study was to investigate the presence of human papillomavirus (HPV) in tonsillectomy and adenoidectomy specimens from pediatric patients without juvenile-onset recurrent respiratory papillomatosis (JORRP), so as to understand the effect of HPV infection in the upper respiratory tract in children.</p><p><b>METHODS</b>Two hundred and forty-one pediatric patients without known JORRP or other HPV-related diseases undergoing tonsillectomy and/or adenoidectomy for hypertrophy or chronic tonsillitis were enrolled in this prospective study. One hundred and seventy-seven fresh samples of tonsillar tissues and 195 samples of adenoid tissues were collected and then examined for the presence of HPV DNA with the polymerase chain reaction (PCR) technique and typing. Laryngeal papilloma specimens from 17 patients obtained during routine debulking procedures were also analyzed and served as positive controls.</p><p><b>RESULTS</b>All 17 papilloma specimens were positive for HPV DNA and the type was 6 or 11. This result confirmed that the methods used were valid for detecting HPV infection. HPV DNA was detected in 2 of the 177 tonsillar specimens and zero of the 195 adenoid specimens. The two positive samples were confirmed with typing. One was positive for HPV6 and the other for HPV11. Review of the medical records of these two cases confirmed that there were no history of HPV-related diseases. Histologic analysis of their specimens showed lymphoid hyperplasia, no specific changes suggesting HPV infection and no signs of malignancy. The HPV infection rate in upper respiratory tract was 0.8% (2/241).</p><p><b>CONCLUSION</b>There is HPV infection in upper respiratory tract in Chinese children without JORRP, but maybe is not sufficient for the formation of JORRP.</p>


Subject(s)
Child , Child, Preschool , DNA, Viral , Female , Humans , Infant , Male , Palatine Tonsil , Virology , Papillomaviridae , Papillomavirus Infections , Diagnosis , Virology , Prospective Studies , Respiratory System , Virology , Respiratory Tract Infections , Tonsillectomy
17.
Article in Chinese | WPRIM | ID: wpr-308774

ABSTRACT

<p><b>OBJECTIVE</b>To study the effects of PI3K/Akt signaling pathway inhibitor wortmannin on long-term learning and memory abilities in neonatal rats with hypoxic-ischemic brain damage (HIBD).</p><p><b>METHODS</b>Forty-eight neonatal rats were randomly assigned to blank control (n=8), sham-operated (n=8), HIBD model (n=10), HIBD+DMSO (dimethyl sulfoxide, n=8) and HIBD+wortmannin groups (n=8). Wortmannin (2 μL) was injected to the left hippocampus 30 minutes before HIBD inducement in the HIBD+wortmannin group. The Morris water maze test was used to examine the long-term learning and memory abilities at the age of 28 days.</p><p><b>RESULTS</b>With the increased number of swimming, the escape latency was shortened in various groups. From the second day, the escape latency in the HIBD+wortmannin group was significantly longer than that in the sham-operated and the blank control groups (P<0.05), and the differences increased with the time. On the fourth day, there were significant differences in the escape latency between the HIBD+wortmannin group and the HIBD+DMSO group as well as the HIBD model group (P<0.05). On the eighth day (retention trial), there were the most obvious differences in the escape latency between the HIBD+wortmannin group with the other four groups. In the space exploration test, the number of times crossing the former platform location within 120 seconds after removing the platform in the HIBD+DMSO and the HIBD model group was lower than the sham-operated and the blank control groups (P<0.05). The HIBD+wortmannin group showed lower number of times crossing the former platform location compared with the HIBD+DMSO and the HIBD model groups (P<0.05), as well as the sham-operated and the blank control groups (P<0.01).</p><p><b>CONCLUSIONS</b>P13K/Akt signaling pathway inhibitor wortmannin can aggravate the cognitive impairments, thus affecting adversely long-term learning and memory abilities in neonatal rats with HIBD.</p>


Subject(s)
Androstadienes , Pharmacology , Animals , Animals, Newborn , Dimethyl Sulfoxide , Pharmacology , Hypoxia-Ischemia, Brain , Psychology , Learning , Maze Learning , Memory , Phosphatidylinositol 3-Kinases , Physiology , Proto-Oncogene Proteins c-akt , Physiology , Rats , Rats, Sprague-Dawley , Signal Transduction , Physiology
18.
Chinese Journal of Pediatrics ; (12): 765-770, 2011.
Article in Chinese | WPRIM | ID: wpr-356382

ABSTRACT

<p><b>OBJECTIVE</b>To determine the impact of expanded newborn screening using tandem mass spectrometry (MS/MS) on the overall detection rate of inborn errors of metabolism in Zhejiang province and to assess the outcome of the patients who were diagnosed.</p><p><b>METHOD</b>Blood spots were collected between days 3 and 6 of life from the newborns. All samples were subjected to MS/MS analysis using Waters Quattro API. Confirmation tests included amino acid analysis, urinary organic acids by GC-MS, routine blood analysis, biochemistry, blood gas analysis, blood glucose and ammonia tests, blood homocysteine, lactate and pyruvate tests, urine acetone tests, biotin and biotin enzyme profile and DNA analysis. Standard treatment protocol was given to the patients. Protein restricted diet, special powdered formula and medicines recommended for the patients with amino acidemias. Protein restricted diet and L-carnitine, folic acid and Vitamin B12 supplementation were given for the patients with organic acidemia. L-carnitine was given to the patients with primary carnitine deficiency. The overall epidemiology, prognosis, follow-up of the screening program were also investigated in the neonates.</p><p><b>RESULT</b>A total of 129 415 neonates were investigated for 26 inborn errors of metabolism during the period. Twenty-three newborns were confirmed as having inborn errors of metabolism, including 13 with amino acidemias, 6 with organic acidemias and 4 with fatty acid oxidation disorders. The prevalence was 1:5626. Positive predictive value was 2.10%, specificity was 99.72% and sensitivity 100%. Seventeen children remain asymptomatic during the follow-up. Five patients had motor and mental developmental delay. One patient presented metabolic disorders during the follow-up. No death occurred in this series of patients.</p><p><b>CONCLUSION</b>This strategy represents a valuable preventive medicine approach by enabling diagnosis and treatment before the onset of symptoms.</p>


Subject(s)
Female , Follow-Up Studies , Humans , Infant, Newborn , Male , Metabolism, Inborn Errors , Diagnosis , Metabolism , Neonatal Screening , Methods , Spectrometry, Mass, Electrospray Ionization , Tandem Mass Spectrometry
19.
Chinese Journal of Cardiology ; (12): 631-635, 2011.
Article in Chinese | WPRIM | ID: wpr-272189

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the relationship between 22q11 microdeletion syndrome and congenital heart disease.</p><p><b>METHODS</b>Clinical screening assessment and genetic testing using standard fluorescence in-situ hybridization (FISH) were applied in 207 subjects suspected for 22q11 microdeletion syndrome. Patients with 22q11 microdeletion syndrome were examined by echocardiography, patients with complicated congenital heart disease were examined further by cardiac catheterization.</p><p><b>RESULTS</b>22q11 microdeletion syndrome was detected in 39 subjects. The incidence of 22q11 microdeletion syndrome was 1.6% in suspects with simple congenital heart disease without extracardiac manifestations, 53.0% in suspects with congenital heart disease combined with at least two extracardiac manifestations, 3.8% in suspects without congenital heart disease. The incidence of congenital heart disease in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 94.9% and 54.2% (P < 0.01). The incidence of congenital heart disease combined with at least two extracardiac manifestations in 22q11 microdeletion syndrome patient and non 22q11 microdeletion syndrome patient was 89.7% and 18.5% (P < 0.01). In 22q11 microdeletion syndrome patients, Tetralogy of Fallot was the most common type of congenital heart disease. Dysmorphic faces, learning difficulties and retarded physical development were the most common extracardiac manifestations of the congenital heart disease patients.</p><p><b>CONCLUSION</b>22q11 microdeletion syndrome is related to congenital heart disease.</p>


Subject(s)
Adolescent , Child , Child, Preschool , Chromosome Deletion , Chromosomes, Human, Pair 22 , Female , Heart Defects, Congenital , Genetics , Humans , In Situ Hybridization, Fluorescence , Infant , Male
20.
Chinese Journal of Pediatrics ; (12): 114-118, 2009.
Article in Chinese | WPRIM | ID: wpr-360364

ABSTRACT

<p><b>OBJECTIVE</b>The incidences of nonalcoholic fatty liver disease (NAFLD) and metabolic syndrome (MS) are very high in obese children, and insulin resistance may be the key point linking them together. Debates still remain as to whether NAFLD could be a component of MS. Some researchers reported that NAFLD was a composition of MS, while the others stated that NAFLD was an independent predicting factor of MS. Here we analyzed the prevalence of NAFLD and MS in 308 obese children who came to our endocrinology department from June 2003 to September 2006, and we also evaluated the relationship between NAFLD and MS in this group of obese children.</p><p><b>METHOD</b>Totally 308 obese children aged from 9 to 14 years with mean age of (10.7 +/- 2.6) years were enrolled. Two hundred and thirty one were males, and 77 were females. Body mass index (BMI), waist circumference (WC), biochemical indicators, liver B-mode ultrasound examination, oral glucose tolerance test (OGTT) and insulin releasing test were performed for all of the cases. The incidences of NAFLD including simple nonalcoholic fatty liver (SNAFL) and nonalcoholic steatohepatitis (NASH) as well as MS were calculated. Three subgroups were selected according to the diagnostic criteria: Group 1: OCWLD (obese children without liver disorder), Group 2: SNAFL and Group 3: NASH. The prevalence of MS, components of MS, free insulin, whole body insulin sensitivity index (WBISI), homeostasis model of insulin resistance (HOMA(IR)) were compared among these three subgroups.</p><p><b>RESULT</b>(1) Among all the obese children, the prevalence of NAFLD, SNAFL, NASH and MS was 65.9% (203), 45.5% (140), 20.5% (63) and 24.7% (76) respectively. Among all the MS children, the prevalence of NAFLD was 84.2% (64/76). The prevalence of MS was 29.3% (41/140) in SNAFL group and 36.5% (23/63) in NASH group, which was significantly higher than that of OCWLD group 11.4% (12/105) (P < 0.05), but no significant difference was found between SNAFL group and NASH group (P > 0.05). Moreover, there were significantly higher incidences in NASH group concerning every component of MS (hypertension, hyperlipidemia, hyperglycemia) compared with that of OCWLD group. The incidence of hypertension in SNAFL was significantly higher than that of OCWLD group. And the incidence of hyperlipidemia was markedly increased in NASH group compared with SNAFL group. NAFLD group had higher free insulin and more severe IR compared with that of OCWLD group. When OCWLD developed to SNAFL and NASH, free insulin and IR deteriorated calculated by HOMA-IR and WBISI. However there was no significant difference between NAFLD and MS children concerning free insulin and IR.</p><p><b>CONCLUSION</b>The prevalence of NAFLD and MS hits high in obese children. The prevalence of NAFLD was very high among children with MS and NAFLD and MS shared the common mechanism of IR. The higher prevalence of MS and higher frequencies of MS components were tightly associated with the development of NAFLD and severity of IR.</p>


Subject(s)
Adolescent , Child , Fatty Liver , Diagnosis , Epidemiology , Metabolism , Female , Humans , Male , Metabolic Syndrome , Diagnosis , Epidemiology , Obesity , Epidemiology , Prevalence
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