1.Report of a case with Potter's syndrome.
Chinese Journal of Pediatrics 2004;42(7):556-556
2.Detection of genetic defect within ABCA3 from newborns with respiratory distress syndrome.
Xi-hui ZHOU ; Zhi-yan HUI ; Yuan LI ; Hong-xia SONG ; Wei ZHANG ; Mi XIAO ; Fang-hui WANG ; Li LIU
Chinese Journal of Pediatrics 2012;50(2):111-116
OBJECTIVETo detect possible relationship between genetic defect within the gene encoding member A3 of the ATP Binding Cassette family (ABCA3) and neonatal respiratory distress syndrome (NRDS), thus to understand the genetic mechanisms of NRDS in Han ethnic group.
METHODThe clinical data of 11 cases with NRDS hospitalized in neonatal intensive care unit was investigated. Blood samples were collected from 11 cases with NRDS and 97 unassociated normal individuals. Polymerase chain reaction (PCR) and DNA direct sequencing were performed to screen all exons and their flanking introns of ABCA3 gene for mutation analysis in 11 cases with NRDS. If a new missense variation was identified, single strand conformation polymorphism analysis was performed in 97 healthy controls. Lung tissue sample from a case who died 12 hours after birth was examined with light microscopy and electron microscopy.
RESULTThree missense genetic variants in exons, which include c. 2169 G > A (p.M723I), c. 1010 T > G (p.V337G), c. 4972 A > G (p.S1658G), one splice junction site variation (Exon 30 + 2 T/G), several unreported polymorphism sites [213 C > T(p.F71F), exon 21 + 34C/T] and reported polymorphism site (p.F353F) were identified on ABCA3 gene coding region in 11 case. The homozygous variation (c.2169G > A), which was in exon 17 and causes an M723I amino acid change, was found in the case who died 13 hours after birth, but not detected in 97 controls, indicating that this variation is indeed a mutation and not a polymorphism. In the case carrying c.2169G > A, ultrastructural examination of the alveolar type II cells with electron microscopy demonstrated abnormally small and dense lamellar body with eccentrically distributed electron dense substance.
CONCLUSIONGenetic variants within ABCA3 may be the genetic cause of or a contributor to some unexplained refractory NRDS. Identification of ABCA3 genetic variant in NRDS infants is important to establish appropriate management and evaluation of treatment options, as well as to offer genetic counseling and prenatal diagnosis.
ATP-Binding Cassette Transporters ; genetics ; DNA Mutational Analysis ; Exons ; Humans ; Infant, Newborn ; Polymorphism, Genetic ; Respiratory Distress Syndrome, Newborn ; etiology ; genetics
3.Perinatal conditions of preterm infants with different severities of respiratory distress syndrome.
Fa-Lin XU ; Fang-Li ZHUANG ; Qiong-Dan BAI ; Jia-Jia DUAN
Chinese Journal of Contemporary Pediatrics 2011;13(10):780-782
OBJECTIVETo understand the risk factors for respiratory distress syndrome (RDS) by comparing the perinatal conditions of preterm infants with different severities of RDS.
METHODSA total of 667 preterm infants with RDS were classified into 4 groups according to the chest X-ray severity: grade I (217 cases), grade II (225 cases), grade III (126 cases) and grade IV (99 cases). The perinatal conditions of the preterm infants were reviewed retrospectively.
RESULTSThere were no significant differences in the gender, the percentage of twins, the percentage of the younger one in twins, maternal age, the percentage of using antenatal corticosteroids, the percentage of premature rupture of membranes, the percentage of placental abruption, the delivery mode and the fertilization mode in preterm infants with different severities of RDS. With the increasing severity of RDS, the birth weight and the gestational age decreased, and the percentage of the infants with Apgar score ≤7 or maternal pregnancy-induced hypertension increased (P<0.05).
CONCLUSIONSThe severity of RDS is related to gestational age, birth weight and perinatal asphyxia in preterm infants.
Birth Weight ; Female ; Gestational Age ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Prognosis ; Respiratory Distress Syndrome, Newborn ; classification ; etiology
4.Clinical features of respiratory distress syndrome in neonates of different gestational ages.
Mao-Jun LI ; Qing WU ; Wei SHI ; Qian YANG ; Bin-Zhi TANG ; Chang-Hui CHEN
Chinese Journal of Contemporary Pediatrics 2016;18(10):960-964
OBJECTIVETo study clinical features of respiratory distress syndrome (RDS) in neonates of different gestational ages (GA).
METHODSAccording to GA, 133 neonates with RDS were classified into GA <34 weeks group (n=66), GA 34-36 weeks group (late preterm neonates; n=31), and GA ≥37 weeks group (full-term neonates; n=36). The mothers' medical history during pregnancy and the condition of the neonates at birth were retrospectively analyzed, and the clinical data were compared between groups.
RESULTSPrenatal corticosteroids supplementation in the GA <34 weeks group was more common than that in the GA 34-36 weeks group (P<0.05). Compared with the GA ≥37 weeks group and the GA 34-36 weeks group, the GA <34 weeks group showed a significantly lower rate of primary diseases, a significantly later time of the development of dyspnea (P<0.05), and a higher rate of intraventricular hemorrhage (P<0.05). Serum albumin levels in the GA <34 weeks group were significantly lower than in the GA ≥37 weeks group (P<0.05). The GA ≥37 weeks group and the GA 34-36 weeks group showed a significantly higher reuse rate of pulmonary surfactant (P<0.05). Use of high-frequency oscillatory ventilation was more common in the GA ≥37 weeks group compared with the GA <34 weeks group (P<0.05).
CONCLUSIONSThe clinical features of RDS are different across neonates of different GA, suggesting that the pathogenesis of RDS may be different in neonates of different GA.
Female ; Gestational Age ; Humans ; Infant, Newborn ; Male ; Respiratory Distress Syndrome, Newborn ; blood ; etiology ; Retrospective Studies ; Risk Factors ; Serum Albumin ; analysis
5.Association of different stages of histological chorioamnionitis with respiratory distress syndrome in preterm infants with a gestational age of < 32 weeks.
Ran DING ; Qiang CHEN ; Qian-Wei ZHANG ; Qi-Bin SUN ; Dai-Jing WANG ; Ruo-Bing SHAN
Chinese Journal of Contemporary Pediatrics 2021;23(3):248-253
OBJECTIVE:
To study the association of different stages of histological chorioamnionitis (HCA) with the incidence rate and severity of respiratory distress syndrome (RDS) in preterm infants.
METHODS:
Related data were collected from the infants and their mothers who were treated in the Neonatal Intensive Care Unit of Qingdao Women and Children's Hospital, Qingdao University, from January 2018 to June 2020. According to the presence or absence of HCA and its stage, the infants were divided into four groups: control (
RESULTS:
Compared with the control and late-stage HCA groups, the early-stage HCA group had a significantly lower incidence rate of placental abruption and a significantly higher rate of prenatal use of antibiotics (
CONCLUSIONS
Early-, middle-, and late-stage HCA can reduce the incidence rate of RDS in preterm infants. HCA stage may not be correlated with RDS severity in preterm infants, which needs to be verified by further research.
Birth Weight
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Child
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Chorioamnionitis/epidemiology*
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Female
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Gestational Age
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Humans
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Infant
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Infant, Newborn
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Infant, Premature
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Pregnancy
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Respiratory Distress Syndrome, Newborn/etiology*
6.High-risk factors and clinical characteristics of massive pulmonary hemorrhage in infants with extremely low birth weight.
Dan CHEN ; Meng WANG ; Xin WANG ; Xue-Wei DING ; Rui-Hua BA ; Jian MAO
Chinese Journal of Contemporary Pediatrics 2017;19(1):54-58
OBJECTIVETo explore the high-risk factors and analyze the clinical characteristics of massive pulmonary hemorrhage (MPH) in infants with extremely low birth weight (ELBW).
METHODSTwo hundred and eleven ELBW infants were included in this study. Thirty-five ELBW infants who were diagnosed with MPH were labelled as the MPH group, and 176 ELBW infants without pulmonary hemorrhage were labelled as the control group. The differences in clinical characteristics, mortality rate, and incidence of complications between the two groups were analysed. The high-risk factors for MPH were identified by multiple logistic regression analysis.
RESULTSThe MPH group had significantly lower gestational age, birth weight, and 5-minute Apgar score than the control group (P<0.05). The MPH group had significantly higher rates of neonatal respiratory distress syndrome, patent ductus arteriosus (PDA), early-onset sepsis (EOS), intracranial hemorrhage, pulmonary surfactant utilization, and death compared with the control group (P<0.01). The multiple logistic regression analysis showed that 5-minute Apgar score was a protective factor for MPH (OR=0.666, P<0.05), and that PDA and EOS were risk factors for MPH (OR=3.717, 3.276 respectively; P<0.01). In the infants who were discharged normally, the MPH group had a longer duration of auxiliary ventilation and a higher incidence rate of ventilator-associated pneumonia (VAP) compared with the control group (P<0.05).
CONCLUSIONSA higher 5-minute Apgar score is associated a decreased risk for MPH, and the prensence of PDA or EOS is associated an increased risk for MPH in ELBW infants. ELBW infants with MPH have a prolonged mechanical ventilation, a higher mortality, and higher incidence rates of VAP and intracranial hemorrhage compared with those without pulmonary hemorrhage.
Female ; Hemorrhage ; etiology ; Humans ; Infant, Extremely Low Birth Weight ; Infant, Newborn ; Logistic Models ; Lung Diseases ; etiology ; Male ; Pneumonia, Ventilator-Associated ; epidemiology ; Respiratory Distress Syndrome, Newborn ; epidemiology ; Risk Factors
7.Genetic polymorphism of surfactant protein A in neonatal respiratory distress syndrome.
Liang ZHAI ; Hong-Min WU ; Ke-Lun WEI ; Shi-Meng ZHAO ; Hong JIANG
Chinese Journal of Contemporary Pediatrics 2008;10(3):295-298
OBJECTIVETo investigate the characteristics of gene expression of surfactant protein A in Chinese premature infants and the association between surfactant protein A and the risk of neonatal respiratory distress syndrome (RDS).
METHODSVein-blood samples (2 mL) from 18 Chinese premature infants with RDS and 28 controls were assayed for SP-A genotypes 6A2, 6A3, 1A0 and 1A1 by SSCP.
RESULTSThe frequency of allele distribution of SP-A1 allele 6A2 and 6A3 was 0.50 and 0.056 respectively in the RDS group and was 0.214 and 0.107 in the control group. Compared with the controls, SP-A1 allele 6A2 was over-represented in the RDS group (P<0.05). In contrast, SP-A1 allele 6A3 tended to be under-represented in the RDS group but there was no statistical difference when compared with the controls. The frequency of allele distribution of SP-A2 allele 1A0 and 1A1 was 0.722 and 0.667 respectively in the RDS group and was 0.679 and 0.821 respectively in the control group. There were no significant differences in the distribution frequency of SP-A2 allele 1A0 and 1A1 between the two groups. In the infants born at gestation >32 weeks, SP-A1 allele 6A2 was over-represented in the RDS group compared with the control group (frequency: 0.56 vs 0.15; P<0.05).
CONCLUSIONSThe frequency of SP-A1 allele 6A2 and 6A3 was low, in contrast, the frequency of SP-A2 allele 1A0 and 1A1 was high in normal Chinese premature infants. SP-A1 allele 6A2 may be a susceptible gene for RDS.
Female ; Gene Frequency ; Genetic Predisposition to Disease ; Humans ; Infant, Newborn ; Infant, Premature ; Male ; Polymorphism, Genetic ; Pulmonary Surfactant-Associated Protein A ; genetics ; Respiratory Distress Syndrome, Newborn ; etiology ; genetics
8.Relationship between pulmonary surfactant-associated protein B polymorphisms and the susceptibility to neonatal respiratory distress syndrome.
Wei-Cheng LU ; Wei XIANG ; Ming WU ; Xu ZHENG ; Jing LIN ; Xing-Yue CHEN ; Hai-Bo WEI ; Duan ZHAN ; Chun-Lei LI
Chinese Journal of Contemporary Pediatrics 2012;14(1):24-27
OBJECTIVETo study the relationship between pulmonary surfactant-associated protein B (SP-B) gene polymorphisms and their susceptibility to neonatal respiratory distress syndrome (RDS).
METHODSEighty-eight preterm infants with RDS (RDS group) and 103 infants without RDS (control group) were enrolled. The genomic DNA was isolated using DNA kits. Polymerase chain reaction with restriction fragment length polymorphism technique was used to detect the genotype and allele frequency of the SP-B -18A/C and SP-B 1580C/T single nucleotide polymorphisms. The association between the polymorphisms and RDS was analyzed.
RESULTSSP-B -18A/C and SP-B 1580C/T were found to be polymorphic in both RDS and control groups. The frequencies of CC genotype (X2=12.26, P<0.01) and C allele (X2=11.97, P<0.01) of SP-B 1580C/T were significantly higher in the RDS group than in the control group. The C allele significantly increased the risk of RDS (OR=2.26, 95%CI: 1.42-3.60). The frequencies of genotype and allele of SP-B -18A/C showed no significant difference between the two groups.
CONCLUSIONSSP-B 1580C/T polymorphism contributes to the etiology of RDS and may serve as the susceptibility gene for RDS. The C allele increases the risk of RDS. SP-B -18A/C shows no association with the etiology of RDS.
Genetic Predisposition to Disease ; Genotype ; Humans ; Infant, Newborn ; Polymorphism, Single Nucleotide ; Pulmonary Surfactant-Associated Protein B ; genetics ; Respiratory Distress Syndrome, Newborn ; etiology ; genetics
9.Association of Ureaplasma urealyticum infection with bronchopulmonary dysplasia in very low birth weight infants with respiratory distress syndrome.
You CHEN ; Li-Ya MA ; Yan HUANG ; Shang-Ming HUANG ; Shan-Qiu XIAO ; Guang-Jin LU
Chinese Journal of Contemporary Pediatrics 2014;16(5):469-472
OBJECTIVETo study the relationship between Ureaplasma urealyticum (UU) infection in the lower respiratory tract and the incidence of bronchopulmonary dysplasia (BPD) in very low birth weight (VLBW) infants with respiratory distress syndrome (RDS).
METHODSSeventy-three VLBW infants diagnosed with neonatal RDS, who had received at least one dose of pulmonary surfactant, as well as mechanical ventilation, and were hospitalized for over 28 days, were recruited. Endotracheal aspirates were obtained from the lower respiratory tract and examined by real-time PCR to detect UU DNA. The infants were divided into UU infection and non-UU infection groups according to examination results. Clinical characteristics and the incidence of BPD were compared between the two groups.
RESULTSCompared with the non-UU infection group, the UU infection group had a higher rate of maternal vaginal delivery, higher incidence of recurrent nosocomial pulmonary infection and premature rupture of membranes (PROM), and longer durations of PROM, oxygen supplementation, and hospital stay; in addition, the UU infection group had higher plasma IgM level, leukocyte count, and neutrophil count within 3 hours after birth. Among 73 VLBW infants, 45 developed BPD; the incidence of BPD in the UU infection group was 90% (19/21), versus 50% (26/52) in the non-UU infection group (P<0.01).
CONCLUSIONSUU infection in the lower respiratory tract increases the incidence of BPD in VLBW infants with RDS.
Bronchopulmonary Dysplasia ; epidemiology ; etiology ; Female ; Humans ; Infant, Newborn ; Infant, Very Low Birth Weight ; Male ; Respiratory Distress Syndrome, Newborn ; complications ; Ureaplasma Infections ; complications ; Ureaplasma urealyticum
10.Clinical characteristics, diagnosis and management of respiratory distress syndrome in full-term neonates.
Jing LIU ; Yun SHI ; Jian-ying DONG ; Tian ZHENG ; Jing-ya LI ; Li-li LU ; Jing-jing LIU ; Jing LIANG ; Hao ZHANG ; Zhi-chun FENG
Chinese Medical Journal 2010;123(19):2640-2644
BACKGROUNDRespiratory distress syndrome (RDS) is one of the most common causes of neonatal respiratory failure and neonatal death, however, its clinical characteristics are very different from premature RDS, and these characteristics have not been well documented as yet. This study was to investigate the pathogenesis, clinical characteristics and management strategies of RDS in full-term neonates, with the aim of developing a working protocol for improving the outcome in full-term neonates with RDS.
METHODSA total of 125 full-term infants with RDS were enrolled in this study. Their clinical and laboratory data were collected for analyzing the characteristics of full-term neonatal RDS.
RESULTS(1) The 125 cases included 94 male and 31 female infants, vaginal delivery occurred in 80 cases and cesarean section in 45 cases. (2) The onset time of RDS was (3.11 ± 3.59) hours after birth. (3) The possible reasons included severe perinatal infections in 63 patients, elective cesarean section in 34 cases, severe birth asphyxia in 12 patients, meconium aspiration syndrome in 9 patients, pulmonary hemorrhage in 4 patients and maternal diabetes in 3 patients. (4) Complications included multiple organ system failure (MOSF) in 49 patients, persistent pulmonary hypertension of newborn (PPHN) in 25 patients, acute renal failure in 18 patients, severe hyperkalemia in 25 patients, severe metabolic acidosis in 6 cases, severe myocardial injury in 9 cases, pulmonary hemorrhage in 3 cases, disseminated intravascular coagulation in 14 patients and shock in 12 patients. (5) Four patients died, the mortality was therefore 3.2% with the main cause of septicemia complicating of MOSF, but their prognosis was improved while comprehensive treatment measures including early mechanical ventilation and broad spectrum antibiotics were taken into account.
CONCLUSIONSRDS is not an uncommon disease in full-term infants and is associated with a higher mortality, its clinical characteristics are very different from premature RDS, and its onset is earlier and is more likely to develop into PPHN and/or MOSF. The main cause of death is severe infection complicating of MOSF and most patients require prolonged mechanical ventilation. Comprehensive management strategies will help to improve patient's prognosis.
Anti-Bacterial Agents ; therapeutic use ; Female ; Humans ; Infant, Newborn ; Male ; Multiple Organ Failure ; etiology ; Nitric Oxide ; therapeutic use ; Respiratory Distress Syndrome, Newborn ; complications ; diagnosis ; drug therapy ; mortality