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1.
Article in English | WPRIM | ID: wpr-888487

ABSTRACT

OBJECTIVES@#To study the survival rate and the incidence of complications of very preterm infants and the factors influencing the survival rate and the incidence of complications.@*METHODS@#The medical data of the very preterm infants with a gestational age of <32 weeks and who were admitted to the Department of Neonatology in 11 hospitals of Jiangsu Province in China from January 2018 to December 2019 were retrospectively reviewed. Their survival rate and the incidence of serious complications were analyzed. A multivariate logistic regression analysis was used to evaluate the risk factors for death and serious complications in very preterm infants.@*RESULTS@#A total of 2 339 very preterm infants were enrolled, among whom 2 010 (85.93%) survived and 1 507 (64.43%) survived without serious complications. The groups with a gestational age of 22-25@*CONCLUSIONS@#The survival rate is closely associated with gestational age in very preterm infants. A low 1-minute Apgar score (≤3) may increase the risk of death in very preterm infants, while high gestational age, high birth weight, and prenatal use of glucocorticoids are associated with the reduced risk of death. A low 5-minute Apgar score (≤3) and maternal chorioamnionitis may increase the risk of serious complications in these infants, while high gestational age and high birth weight may reduce the risk of serious complications.


Subject(s)
Female , Gestational Age , Humans , Infant, Newborn , Infant, Premature , Infant, Premature, Diseases , Infant, Very Low Birth Weight , Pregnancy , Retrospective Studies , Survival Rate
2.
Article in Chinese | WPRIM | ID: wpr-879899

ABSTRACT

OBJECTIVE@#To evaluate the clinical features of preterm infants with a birth weight less than 1 500 g undergoing different intensities of resuscitation.@*METHODS@#A retrospective analysis was performed for the preterm infants with a birth weight less than 1 500 g and a gestational age less than 32 weeks who were treated in the neonatal intensive care unit of 20 hospitals in Jiangsu, China from January 2018 to December 2019. According to the intensity of resuscitation in the delivery room, the infants were divided into three groups:non-tracheal intubation (@*RESULTS@#Compared with the non-tracheal intubation group, the tracheal intubation and ECPR groups had significantly lower rates of cesarean section and use of antenatal corticosteroid (@*CONCLUSIONS@#For preterm infants with a birth weight less than 1 500 g, the higher intensity of resuscitation in the delivery room is related to lower rate of antenatal corticosteroid therapy, lower gestational age, and lower birth weight. The infants undergoing tracheal intubation or ECRP in the delivery room have an increased incidence rate of adverse clinical outcomes. This suggests that it is important to improve the quality of perinatal management and delivery room resuscitation to improve the prognosis of the infants.


Subject(s)
Birth Weight , Cesarean Section , China , Female , Gestational Age , Humans , Infant , Infant, Newborn , Infant, Premature , Pregnancy , Retrospective Studies
3.
Article in Chinese | WPRIM | ID: wpr-879865

ABSTRACT

OBJECTIVE@#To systematically evaluate the association of early nutrition intake with the risk of bronchopulmonary dysplasia (BPD).@*METHODS@#PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, Wanfang Data, and Weipu Periodical Database were searched for the observational studies on the association between early nutrition intake and BPD. RevMan 5.3 software was used to perform a Meta analysis of eligible studies.@*RESULTS@#Eight observational studies were included, with 548 infants with BPD and 522 infants without BPD. The Meta analysis showed that the BPD group had a significantly lower caloric intake than the non-BPD group within the first week after birth and in the first 2 weeks after birth (@*CONCLUSIONS@#Early nutrition deficiency may be associated with the development of BPD, and more attention should be paid to enteral feeding of infants at a high risk of BPD to achieve total enteral feeding as soon as possible.


Subject(s)
Bronchopulmonary Dysplasia/etiology , China , Humans , Infant , Infant, Newborn , Infant, Premature , Malnutrition , Parenteral Nutrition
4.
Article in Chinese | WPRIM | ID: wpr-879806

ABSTRACT

OBJECTIVE@#To study the influence of twin pregnancy by assisted reproductive technology (ART) versus twin pregnancy by spontaneous conception (SC) on neonatal outcomes.@*METHODS@#A retrospective analysis was performed for the clinical data of 3 356 live twins with a gestational age of ≥24 weeks who were born in Nanjing Maternal and Child Health Hospital from 2017 to 2019, with 2 006 twins (1 003 pairs) in the ART group and 1 350 (675 pairs) in the SC group. The two groups were compared in terms of the mother's general information and pregnancy comorbidities and the general information, diseases, and outcomes of neonates.@*RESULTS@#Compared with the SC group, the ART group had a significantly higher maternal age (@*CONCLUSIONS@#Compared with twin pregnancy by SC, twin pregnancy by ART does not increase the neonatal mortality rate and risk of adverse outcomes.


Subject(s)
Cesarean Section , Female , Humans , Infant, Newborn , Pregnancy , Pregnancy Outcome , Pregnancy, Twin , Premature Birth , Reproductive Techniques, Assisted , Retrospective Studies
5.
Article in Chinese | WPRIM | ID: wpr-828683

ABSTRACT

OBJECTIVE@#To investigate the incidence of severe neonatal hyperbilirubinemia and the management on the treatment and follow-up of this disease in Jiangsu Province, China.@*METHODS@#The neonates with severe hyperbilirubinemia who were admitted to 13 hospitals in Jiangsu Province from January to December, 2018, were enrolled as subjects. A retrospective analysis was performed on their mediacal data and follow-up data.@*RESULTS@#In 2018, 740 neonates with severe hyperbilirubinemia were reported from the 13 hospitals in Jiangsu Province, accounting for 2.70% (740/27 386) of the total number of neonates admitted to the department of neonatology. Among these neonates, 620 (83.8%) had severe hyperbilirubinemia, 106 (14.3%) had extremely severe hyperbilirubinemia, and 14 (1.9%) had hazardous hyperbilirubinemia. Four neonates (0.5%) were diagnosed with acute bilirubin encephalopathy. A total of 484 neonates (65.4%) were readmitted due to severe hyperbilirubinemia after discharge from the delivery institution, with a median age of 7 days, among whom 214 (44.2%) were followed up for jaundice at the outpatient service before readmission, with a median age of 6 days at the first time of outpatient examination. During hospitalization, 211 neonates (28.5%) underwent cranial MRI examinations, among whom 85 (40.3%) had high T1WI signal in the bilateral basal ganglia and the globus pallidus; 238 neonates (32.2%) underwent brainstem auditory evoked potential examinations, among whom 14 (5.9%) passed only at one side and 7 (2.9%) failed at both sides. The 17 neonates with acute bilirubin encephalopathy or hazardous hyperbilirubinemia were followed up. Except one neonate was lost to follow-up, and there were no abnormal neurological symptoms in the other neonates.@*CONCLUSIONS@#Neonates with severe hyperbilirubinemia account for a relatively high proportion of the total number of neonates in the department of neonatology. Jaundice monitoring and management after discharge from delivery institutions need to be strengthened. For neonates with severe hyperbilirubinemia, relevant examinations should be carried out more comprehensively during hospitalization and these neonates should be followed up comprehensively and systematically after discharge.


Subject(s)
Bilirubin , China , Evoked Potentials, Auditory, Brain Stem , Humans , Hyperbilirubinemia, Neonatal , Infant, Newborn , Retrospective Studies
6.
Article in Chinese | WPRIM | ID: wpr-297203

ABSTRACT

The study reports a female neonate with a gestational age of 29weeks and a birth weight of 1 210 g. Ten minutes after birth, the neonate was admitted to the hospital due to shortness of breath. Several days after birth, the neonate presented with hyperglycemia, polyuria, and poor weight gain, accompanied by azotemia, hypochloremic metabolic alkalosis, hypokalemia, and hyponatremia. Laboratory examinations showed elevated levels of aldosterone, renin, and angiotensin II. Gene detection revealed SLC12A1 gene mutation. Neonatal Bartter syndrome was thus confirmed. The neonate was treated with sodium and potassium supplements, and was followed up for 8 months. During the follow-up, the mental and neural development of the neonate was almost normal at the corrected age, and regular reexaminations showed slight metabolic alkalosis and almost normal electrolyte levels. For the neonates who have the symptoms of unexplainable polyurine and electrolyte disorders, it is important to examine the levels of aldosterone, renin and angiotensin. A definite diagnosis of neonatal Bartter syndrome can be made based on the presence of SLC12A1 gene mutation.


Subject(s)
Acidosis , Bartter Syndrome , Therapeutics , Female , Humans , Hypokalemia , Infant, Newborn , Recurrence , Weight Gain
7.
Article in Chinese | WPRIM | ID: wpr-340591

ABSTRACT

<p><b>OBJECTIVE</b>To study the effect of breastfeeding quality improvement on the breastfeeding rate in very low birth weight (VLBW) and extremely low birth weight (ELBW) infants in the neonatal intensive care unit (NICU).</p><p><b>METHODS</b>A retrospective analysis was performed for the clinical data of VLBW and ELBW infants who were admitted from July 2014 to July 2015 (pre-improvement group) and those who were admitted from August 2015 to June 2016 after the implementation of breastfeeding quality improvement measures (post-improvement group). The parameters including condition of breastfeeding (breastfeeding rate, breastfeeding amount, and breastfeeding time), duration of parenteral nutrition, time to enteral feeding, and incidence of feeding intolerance were compared between the two groups.</p><p><b>RESULTS</b>The implementation of breastfeeding quality improvement measures significantly increased breastfeeding rate and amount, significantly shortened time to addition of human milk fortifier, duration of parenteral nutrition, and time to enteral feeding, and significantly decreased the incidence of feeding intolerance.</p><p><b>CONCLUSIONS</b>Breastfeeding quality improvement measures can increase breastfeeding rate in the NICU and decrease gastrointestinal complications in preterm infants.</p>


Subject(s)
Breast Feeding , Enteral Nutrition , Female , Humans , Infant, Extremely Low Birth Weight , Infant, Newborn , Infant, Very Low Birth Weight , Intensive Care Units, Neonatal , Male , Parenteral Nutrition , Quality Improvement , Retrospective Studies , Weight Gain
8.
Article in Chinese | WPRIM | ID: wpr-261176

ABSTRACT

<p><b>OBJECTIVE</b>To investigate the influence of delayed cord clamping (DCC) on preterm infants with a gestational age of <32 weeks.</p><p><b>METHODS</b>Ninety preterm infants with a gestational age of <32 weeks delivered naturally from January to December, 2015 were enrolled and randomly divided into DCC group (46 infants) and immediate cord clamping (ICC) group (44 infants). The routine blood test results, total amount of red blood cell transfusion, blood gas parameters, mean arterial pressure, bilirubin peak, total time of phototherapy, and incidence rates of necrotizing enterocolitis, late-onset sepsis, intracranial hemorrhage, retinopathy, and bronchopulmonary dysplasia were compared between the two groups.</p><p><b>RESULTS</b>Compared with the ICC group, the DCC group had significantly higher levels of hemoglobin, hematocrit, mean arterial pressure, and standard base excess (P<0.05), as well as a significantly lower percentage of preterm infants who underwent volume expansion and dopamine treatment and a significantly lower amount of red blood cell transfusion (P<0.05). The body temperature, pH value, HCO3(-) concentration, serum bilirubin peak, total time of phototherapy, and incidence rates of late-onset sepsis, retinopathy, grade≥2 intracranial hemorrhage, and grade≥2 neonatal necrotizing enterocolitis showed no significant differences between the two groups (P>0.05).</p><p><b>CONCLUSIONS</b>DCC is a safe clinical intervention and can improve the prognosis of preterm infants with a gestational age of <32 weeks.</p>


Subject(s)
Constriction , Delivery, Obstetric , Methods , Female , Gestational Age , Humans , Infant, Newborn , Blood , Infant, Premature , Male , Time Factors , Umbilical Cord
9.
Article in Chinese | WPRIM | ID: wpr-279872

ABSTRACT

<p><b>OBJECTIVE</b>To plot a hour-specific transcutaneous bilirubin (TCB) nomogram for healthy neonates, and to evaluate its value for prediction of the risk of neonatal hyperbilirubinemia.</p><p><b>METHODS</b>A total of 5,250 healthy full-term or near-term neonates (gestational age≥35 weeks, birth weight≥2 000 g) were enrolled as subjects. Their TCB values were continuously recorded for 168 hours after birth. The TCB values in the high-risk zones of three time periods, 24-48, 49-72, and 73-96 hours after birth, were used as predictors. The hour-specific TCB nomogram combined with the receiver operating characteristic (ROC) curve was used to evaluate the predictive value of hour-specific TCB nomogram for hyperbilirubinemia.</p><p><b>RESULTS</b>According to the hour-specific TCB nomogram, the TCB value dramatically increased during 16-72 hours after birth, and the increase slowed down gradually during 72-144 hours. Finally, the curve reached a plateau after 144 hours. Particularly, the P95 of TCB had been stabilized at 96 hours. The P40, P75, and P95 peak values of TCB were 173, 217, and 248 µmol/L, respectively. For the prediction of hyperbilirubinemia, the areas under the ROC curve of TCB at 24-48, 49-72, and 73-96 hours after birth were 0.77, 0.85, and 0.87, respectively. The high-risk zones at 24-48, 49-72, and 73-96 hours after birth predicted the incidence rates of neonatal hyperbilirubinemia as 35.03%, 43.35%, and 79.95%, respectively, with positive likelihood ratios of 3.35, 4.75, and 22.70, respectively.</p><p><b>CONCLUSIONS</b>The hour-specific TCB nomogram and the division of TCB risk zones can give a satisfactory prediction of the incidence of neonatal hyperbilirubinemia. The neonate with a bilirubin level in the high-risk zone within 73-96 hours after birth is likely to have hyperbilirubinemia after 73-96 hours.</p>


Subject(s)
Bilirubin , Female , Humans , Hyperbilirubinemia, Neonatal , Diagnosis , Infant, Newborn , Male , Neonatal Screening , Methods , Nomograms , ROC Curve
10.
Article in English | WPRIM | ID: wpr-289915

ABSTRACT

<p><b>OBJECTIVE</b>To explore the potential role of TUC40- in human and mouse embryonic heart development.</p><p><b>METHODS</b>Bioinformatics databases including NCBI,UCSC,and Uniprot and software including Clustal,DNAMAN,and MEGA 6 were used to collect information of TUC40- and uc.40-. The expression profile at key time points of heart development was investigated by strand-specific quantitative real time polymerase chain reaction.</p><p><b>RESULTS</b>Uc.40- was conservative in sequence, genomic location, and transcription factor binding sites across human and mouse. Pbx1/TUC40- showed negative trend during embryonic mouse heart maturation.</p><p><b>CONCLUSIONS</b>Various levels of conservation of uc.40- suggests similar functions of TUC40- in these two species. TUC40- may play its roles in human and mouse embryonic heart development by regulating Pbx1.</p>


Subject(s)
Animals , Computational Biology , Heart Septal Defects, Ventricular , Humans , Mice , RNA, Long Noncoding , Real-Time Polymerase Chain Reaction
11.
Chinese Medical Journal ; (24): 2652-2658, 2016.
Article in English | WPRIM | ID: wpr-230905

ABSTRACT

<p><b>BACKGROUND</b>Globally, the proportion of child deaths that occur in the neonatal period remains a high level of 37-41%. Differences of cause in neonate death exist in different regions as well as in different economic development countries. The specific aim of this study was to investigate the causes, characteristics, and differences of death in neonates during hospitalization in the tertiary Neonatal Intensive Care Unit (NICU) of China.</p><p><b>METHODS</b>All the dead neonates admitted to 26 NICUs were included between January l, 2011, and December 31, 2011. All the data were collected retrospectively from clinical records by a designed questionnaire. Data collected from each NICU were delivered to the leading institution where the results were analyzed.</p><p><b>RESULTS</b>A total of 744 newborns died during the 1-year survey, accounting for 1.2% of all the neonates admitted to 26 NICUs and 37.6% of all the deaths in children under 5 years of age in these hospitals. Preterm neonate death accounted for 59.3% of all the death. The leading causes of death in preterm and term infants were pulmonary disease and infection, respectively. In early neonate period, pulmonary diseases (56.5%) occupied the largest proportion of preterm deaths while infection (27%) and neurologic diseases (22%) were the two main causes of term deaths. In late neonate period, infection was the leading cause of both preterm and term neonate deaths. About two-thirds of neonate death occurred after medical care withdrawal. Of the cases who might survive if receiving continuing treatment, parents' concern about the long-term outcomes was the main reason of medical care withdrawal.</p><p><b>CONCLUSIONS</b>Neonate death still accounts for a high proportion of all the deaths in children under 5 years of age. Our study showed the majority of neonate death occurred in preterm infants. Cause of death varied with the age of death and gestational age. Accurate and prompt evaluation of the long-term outcomes should be carried out to guide the critical decision.</p>


Subject(s)
Cause of Death , China , Female , Hospital Mortality , Humans , Infant , Infant Mortality , Infant, Newborn , Infant, Newborn, Diseases , Mortality , Intensive Care Units, Neonatal , Male , Perinatal Death , Retrospective Studies
12.
Chinese Medical Journal ; (24): 2743-2750, 2015.
Article in English | WPRIM | ID: wpr-315258

ABSTRACT

<p><b>BACKGROUND</b>With the progress of perinatal medicine and neonatal technology, more and more extremely low birth weight (ELBW) survived all over the world. This study was designed to investigate the short-term outcomes of ELBW infants during their Neonatal Intensive Care Unit (NICU) stay in the mainland of China.</p><p><b>METHODS</b>All infants admitted to 26 NICUs with a birth weight (BW) < l000 g were included between January l, 2011 and December 31, 2011. All the data were collected retrospectively from clinical records by a prospectively designed questionnaire. The data collected from each NICU transmitted to the main institution where the results were aggregated and analyzed. Categorical variables were performed with Pearson Chi-square test. Binary Logistic regression analysis was used to detect risk factors.</p><p><b>RESULTS</b>A total of 258 ELBW infants were admitted to 26 NICUs, of whom the mean gestational age (GA) was 28.1 ± 2.2 weeks, and the mean BW was 868 ± 97 g. The overall survival rate at discharge was 50.0%. Despite aggressive treatment 60 infants (23.3%) died and another 69 infants (26.7%) died after medical care withdrawal. Furthermore, the survival rate was significantly higher in coastal areas than inland areas (53.6% vs. 35.3%, P = 0.019). BW < 750 g and GA < 28 weeks were the largest risk factors, and being small for gestational age was a protective factor related to mortality. Respiratory distress syndrome was the most common complication. The incidence of patent ductus arteriosus, intraventricular hemorrhage, periventricular leukomalacia, bronchopulmonary dysplasia, retinopathy of prematurity was 26.2%, 33.7%, 6.7%, 48.1%, and 41.4%, respectively. Ventilator associated pneumonia was the most common hospital acquired infection during hospitalization.</p><p><b>CONCLUSIONS</b>Our study was the first survey that revealed the present status of ELBW infants in the mainland of China. The mortality and morbidity of ELBW infants remained high as compared to other developed countries.</p>


Subject(s)
China , Female , Humans , Infant , Infant Mortality , Infant, Extremely Low Birth Weight , Infant, Newborn , Intensive Care Units, Neonatal , Male , Morbidity , Respiratory Distress Syndrome, Newborn , Mortality , Retrospective Studies , Surveys and Questionnaires
13.
Article in Chinese | WPRIM | ID: wpr-733000

ABSTRACT

Objective To describe the change of obesity incidence over the years by evaluating simple obesity children aged 0-7 years old during 1986 to 2010 in China.Methods Relevant articles were searched for in PubMed,Cochrane Library,Chinese Science Citation Database,CBM,CNKI and Wanfang Database using the key words of "child"," overweight" and "simple obesity" in English and Chinese articles between Jan.1,1980 and Jul.31,2012.A criterion for inclusion was established based on valid criteria for diagnostic research.The eligible studies were collected and analyzed using Stata 10.0.Publication bias was tested by Begg's funnel plot.The heterogeneity test was performed at the same time.The appropriate models was used to calculate prevalence rate and 95% CI and study gender effect among children.Results Fourteen articles were included with a total of 126 310 children (66 558 boys and 59 752 girls).The rate of child obesity was 4.30%,95% CI:3.30%-5.40% ;boys:4.80%,95% CI:3.60%-6.00% ;girls:3.70%,95% CI:2.80%-4.60%.There was no difference between boys and girls in obesity incidence from 1986 to 1995(P >0.05),while differences appeared from 1996 to2010(P<0.05).Conclusions In the 1986 to 2010 period both child obesity incidence and differences between boys and girls continued to increase.The government shall pay attention to such a situation at once and introduce polices to prevent the continuous development of the children simple obesity.

14.
Article in Chinese | WPRIM | ID: wpr-237283

ABSTRACT

<p><b>OBJECTIVE</b>To detect potential mutations of OTC gene in a male infant affected with ornithine transcarbamylase deficiency.</p><p><b>METHODS</b>Genomic DNA were isolated from peripheral blood samples of family members and 100 healthy individuals. Potential mutations of the 10 exons of OTC gene were screened with PCR and Sanger sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation c.917G>C in exon 9, which results in p.R306T, was identified in the infant. Sequencing of the mother and two female members of the family indicated a heterozygous status for the same mutation. The same mutation was not found in other members of the family and 100 healthy controls.</p><p><b>CONCLUSION</b>A missense mutation c.917G>C in the OTC gene is responsible for the pathogenesis of the disease. Identification of the mutation can facilitate prenatal diagnosis and genetic counseling for the family.</p>


Subject(s)
Computational Biology , Female , Humans , Male , Mutation , Ornithine Carbamoyltransferase , Genetics , Ornithine Carbamoyltransferase Deficiency Disease , Diagnosis , Genetics , Sequence Analysis, DNA
15.
Article in Chinese | WPRIM | ID: wpr-295534

ABSTRACT

<p><b>OBJECTIVE</b>To detect chromosomal aberrations in a child with developmental delay and speech and language disorders in order to explore the underlying genetic causes of congenital malformation, and to investigate the feasibility of array-based comparative genomic hybridization (array-CGH) for molecular genetic diagnosis.</p><p><b>METHODS</b>G-banding and array-CGH were applied to characterize the genetic abnormality in the three family members.</p><p><b>RESULTS</b>G-banding analysis revealed the affected child and the healthy mother are both carriers of inv(9)(p13q13), while the child has carried a chromosome fragment derived from chromosome 13. Array-CGH analysis indicated the derivative chromosome fragment has originated from 9p with breakpoints at around 9p13.1-p24.3.</p><p><b>CONCLUSION</b>Trisomy 9p13.1-p24.3 may be the cause of congenital malformation in the child. For its high resolution and high accuracy, array-CGH is a powerful tool for genetic analysis.</p>


Subject(s)
Child, Preschool , Chromosome Aberrations , Chromosomes, Human, Pair 9 , Genetics , Comparative Genomic Hybridization , Methods , Female , Humans , Male , Pregnancy , Trisomy , Diagnosis , Genetics
16.
Article in Chinese | WPRIM | ID: wpr-339591

ABSTRACT

<p><b>OBJECTIVE</b>This study examined the effects of maternal deficiency of folic acid during pregnancy on pulmonary development and protein A (SP-A) expression in newborn rats in order to explore the possible mechanism of lung developmental disorders.</p><p><b>METHODS</b>Thirty-six adult Sprague-Dawley female rats were randomly assigned into two groups: control and study (n=18). The study and the control groups were fed with fodder containing folic acid or not respectively. Two weeks later, the female rats in the two groups copulated with normal male rats. Newborn rats were sacrificed at 1, 7 and 14 days after birth (8 pups at each time point). Lung sections were stained with hematoxylin and eosin for histological examination. SP-A expression of protein and mRNA were determined by immunohistochemistry and real-time quantitative RT-PCR, respectively.</p><p><b>RESULTS</b>The newborn rats from the study group showed damaged lung tissue structures. The mean optical density of type II cells with positive expression of SP-A decreased significantly from 1 to 14 days in newborn rats of the study group compared with the control newborn rats (P<0.05). The real-time quantitative RT-PCR showed that the expression of lung SP-A mRNA also decreased significantly from 1 to 14 days in newborn rats of the study group compared with control newborn rats (P<0.05).</p><p><b>CONCLUSIONS</b>Maternal deficiency of folic acid during pregnancy can decrease the expression of SP-A in lung tissues of newborn rats, which might lead to the disorder of lung development maturation.</p>


Subject(s)
Animals , Animals, Newborn , Female , Folic Acid Deficiency , Metabolism , Immunohistochemistry , Lung , Embryology , Male , Pregnancy , Pregnancy Complications , Metabolism , Pulmonary Surfactant-Associated Protein A , Genetics , RNA, Messenger , Rats , Rats, Sprague-Dawley , Reverse Transcriptase Polymerase Chain Reaction
17.
Article in Chinese | WPRIM | ID: wpr-295566

ABSTRACT

<p><b>OBJECTIVE</b>To investigate potential mutation of the ASS1 gene in a male infant with acute citrullinemia type I.</p><p><b>METHODS</b>Genomic DNA was prepared from peripheral blood samples of the family members. Mutation analysis of the 14 ASS1 exons was carried out by PCR and direct DNA sequencing.</p><p><b>RESULTS</b>A homozygous missense mutation of c.970G>A located in exon 13, which results in p.G324S, was identified in the child. Sequencing of the parents showed a heterozygous status for the same mutation.</p><p><b>CONCLUSION</b>A missense mutation of c.970G>A in the ASS1 gene is responsible for the pathogenesis of the disease in the infant.</p>


Subject(s)
Amino Acid Sequence , Amino Acid Substitution , Argininosuccinate Synthase , Chemistry , Genetics , Base Sequence , Citrullinemia , Genetics , Gene Order , Humans , Infant , Male , Models, Molecular , Molecular Sequence Data , Mutation, Missense , Protein Conformation , Sequence Alignment , Sequence Analysis, DNA
18.
Chinese Journal of Pediatrics ; (12): 904-910, 2009.
Article in Chinese | WPRIM | ID: wpr-358471

ABSTRACT

<p><b>OBJECTIVE</b>To evaluate the effects of infant formula containing palm oil on the nutrient absorption and defecation in infants.</p><p><b>METHODS</b>A search in Cochrane Library, PubMed, OVID, Springer, China National Knowledge Infrastructure, Vip Chinese Periodical Database, Wanfang Chinese Periodical Database and Chinese Bio-medicine Database was performed to identify relevant English and Chinese language articles between January 1990 and March 2009. Two reviewers independently performed data extraction and appraised using Jadad instrument. Double data were input and analyzed by software of Review Manager 4.2 recommended by Cochrane Collaboration. Intestinal nutrient absorption, electrolyte content of fecal excretion, in vivo calcium deposition, and defecation were included as the target outcomes. These outcomes were evaluated as the combined standardized mean difference (SMD) and relative risk (RR) value and 95% CI of them.</p><p><b>RESULTS</b>Thirteen articles were included. Three articles meeting inclusion criteria were analyzed for the effects between infant formula containing palmitic acid at the Sn-2 positions and palmitic acid at the Sn-1, 3 positions; five articles were analyzed for the effects between infant formula containing palmitic acid at the Sn-1, 3 and without palmitic acid; another five articles were analyzed for the effects between infant formula containing palmitic acid at the Sn-2 positions and without palmitic acid. Absorption of fat and calcium was higher, the Ca(2+) of fecal excretion was lower when the infant formula provided palmitic acid at the Sn-2 positions or without palmitic acid than that determined when formula containing palmitic acid at the Sn-1 and Sn-3 positions was given (P < 0.01). The bone mineral content (BMC) and bone mineral density (BMD) increased at 3, 6 months when the infant formula without palmitic acid as compared with using the formula containing palmitic acid at the Sn-1 and Sn-3 positions (P < 0.01). The formation of calcium soaps in stool was reduced, the BMC increased when the infant formula provided palmitic acid at the Sn-2 positions as compared with using the infant formula without palmitic acid (P < 0.01). The incidence of soft stools was higher, and the incidence of hard stools was lower when the infant formula provided palmitic acid at the Sn-2 positions or without palmitic acid than that when formula containing palmitic acid at the Sn-1 and Sn-3 positions was used (P < 0.01).</p><p><b>CONCLUSION</b>Absorption of fat and calcium was lower, the Ca(2+) of fecal excretion was higher, the BMC was reduced, the incidence of hard stools increased when the infant formula provided the palmitic acid at the Sn-1 and Sn-3 positions as compared with using formula contained palmitic acid at the Sn-2 positions or without palmitic acid. However, this conclusion should be used cautiously because of the limited quality of studies included into the analysis.</p>


Subject(s)
Defecation , Humans , Infant , Infant Formula , Chemistry , Infant Nutritional Physiological Phenomena , Intestinal Absorption , Palm Oil , Palmitic Acid , Plant Oils
19.
Article in Chinese | WPRIM | ID: wpr-325612

ABSTRACT

<p><b>OBJECTIVE</b>To study the evidence-based therapy of inhaled nitric oxide (iNO) for hypoxic respiratory failure (HRF) in term and near-term infants by analyzing the literature systematically.</p><p><b>METHODS</b>The literature related to the treatment of HRF with iNO was retrieved from the following: PubMed, EMBASE, OVID, Springer and Chinese Journals Full-Text Database (CNKI). The relevant literature on randomized controlled trials (RCTs) that met the criteria was statistically analyzed by the software of Review Manager 4.2, as recommended by Cochrane Collaboration.</p><p><b>RESULTS</b>A total of 162 articles were retrieved. Fifteen met the criteria and were selected for Meta analysis (4 single center and 11 multicenter randomized trials). Meta analysis showed that 30-60 minutes iNO therapy decreased the oxygenation index (P<0.05), increased PaO2 significantly, and reduced need of extracorporeal membrane oxygenation(ECMO) (P<0.05). However, for the neonates with HRF caused by congenital diaphragmatic hernia, iNO therapy did not result in a significant reduction in the oxygenation index and death rate. There was no significant difference in the occurrence of neurodevelopmental sequelae between the iNO and control groups.</p><p><b>CONCLUSIONS</b>The currently published evidence from RCTs supports the use of iNO in term and near-term infants with HRF but except for the HRF infants caused by diaphragmatic hernia. The effect of iNO therapy on long-term neurodevelopment needs to be further studied.</p>


Subject(s)
Administration, Inhalation , Fetal Hypoxia , Drug Therapy , Humans , Infant, Newborn , Nitric Oxide , Randomized Controlled Trials as Topic , Respiratory Insufficiency , Drug Therapy
20.
Chinese Journal of Epidemiology ; (12): 1137-1140, 2008.
Article in Chinese | WPRIM | ID: wpr-298302

ABSTRACT

Objective To investigate the main risk factors related to the incidence of perinatal congenital heart disease (CHD) in Chinese people. Methods Results on the risk factors of CHD in 12 papers were analyzed by Meta-analysis method. The cumulative cases and controls were 3436 and 3976, respectively. The calculation methods of the combined odds ratio( OR ) and 95 % confidence interval (CI) were determined according to the homogeneity test. Results The pooled OR values of single-factor-analysis were as follows: spiritual stimulus ( 4.55 ), maternal exposures to pesticides ( 4.85 ), negative life events (5.39) during pregnancy, cold (3.18) during early pregnancy, exposure to chemical toxic substances before pregnancy. The pooled OR values of multiple-factor analysis were as follows: spiritual stimulus (4.08), exposure to chemical toxic substances ( 3.54 ), cold with fever ( 5.00 ) during pregnancy. Conclusion The main factors influencing the incidence of CHD in Chinese people were current spiritual stimulus, exposure to chemical toxic substances or pesticides, negative life events during pregnancy, cold or fever during early pregnancy, exposure to chemical toxic substances before pregnancy.

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