Clinical phenotype and genetic analysis of a child with 3p26.3p25.3 deletion / 中华医学遗传学杂志

OBJECTIVE@#To explore the genetic basis for a child with facial dysmorphism and multiple malformations.@*METHODS@#The child, born at 34+6 weeks' gestation due to premature rupture of amniotic membrane, dichorionic diamniotic twinning and gestational diabetes, was subjected to chromosomal karyotyping analysis and copy number variations sequencing (CNV-seq).@*RESULTS@#The child was found to have facial dysmorphism, hypospadia, cryptorchidism and hypotonia. He was found to have a 46,XY,del(3)(p26) karyotype in addition with a 9.80 Mb deletion (chr3: 60 000-9 860 000) encompassing 33 protein coding genes.@*CONCLUSION@#The 3p26.3p25.3 deletion probably underlay the multiple malformations in this child. Continuous follow-up is required to improve his quality of life.

Autosomal recessive complete signal transducer and activator of transcription 1 deficiency in a newborn: a case report / 中华围产医学杂志

We reported the clinical data of a neonate admitted to the Second Affiliated Hospital (Yuying Children's Hospital) of Wenzhou Medical University in November 2021 with autosomal recessive complete signal transducer and activator of transcription 1 ( STAT1) deficiency identified by whole exome sequencing. The baby boy received bacillus of calmette-guerin (BCG) vaccine 2 d after birth and presented with persistent high fever, increased white blood cell count and increased level of C-reactive protein (CRP) on 21 d after birth. Human cytomegalovirus (HCMV) was detected in both blood and bone marrow specimens. The patient improved after comprehensive treatment with antiviral agents, antibiotics and intravenous gammaglobulin. Oral anti-viral drugs were prescribed on discharge. However, the baby was rehospitalized due to a fever at 55 days. HCMV and Mycobacterium tuberculosis complex were detected in blood samples. The infant was transferred to the Children's Hospital of Fudan University due to persistent high fever even after active management and died after treatment withdrawal at 69 d after birth because of worsening infections and multiple organ failure. A homozygous mutation in the STAT1 gene was detected [c.1011_1012del, NM_007315: exon11: c.1011_1012del (p.V339Pfs*18)] and the child was diagnosed as autosomal recessive complete STAT1 deficiency. We concluded that the clinical manifestations of autosomal recessive complete STAT1 deficiency are bacterial infections caused by lethal low-pathogenic mycobacteria and life-threatening virus infections. Whole exome sequencing is of great value for early diagnosis and timely treatment. The prognosis of this disease is very poor, but the condition of the patients might be improved in a short period with early anti-tuberculosis and anti-viral treatment.

Bacterial flora of biofilm in the endotracheal tube of mechanically ventilated neonates and its relationship with ventilator-associated pneumonia / 中华传染病杂志

Objective:To explore the relationship between endotracheal tube-bacterial biofilm (ETT-BF) in mechanically ventilated neonates and ventilator-associated pneumonia (VAP).Methods:A total of 30 mechanically ventilated neonates whose mechanical ventilation time were ≥48 h in the Department of Neonatology in The Second Affiliated Hospital of Wenzhou Medical University from January 2019 to January 2020 were included.According to the indwelling time of endotracheal tube, all cases were divided into three groups including group A(two to six days), group B(seven to 14 days) and group C (over 14 days). The morphological results of ETT-BF were scanned by scanning electron microscope (SEM). The incidence of VAP, the positive rates of strains isolated from endotracheal tube surface and lower respiratory tract secretion, the detection of strains and drug resistance were analyzed. Chi-squared test were used for statistical analysis.Results:The results of SEM showed that sheet matrix could be observed on the surface of the inner cavity of endotracheal tube in three days of tracheal catheter retention, and cocci adhered to it in four days. With prolonged indwelling time of endotracheal tube, the structure of bacterial biofilm (BF) had improved.The positive rate of strains isolated from the secretion of lower respiratory tract in 30 neonates was 23.3%(7/30) and all of them were Gram-negative bacteria. There was no patient developed VAP in group A, while there were two patients with VAP in group B, and five patients with VAP in group C. The incidences of VAP in the three groups were statistically significant ( χ2=10.82, P=0.004). There was no significant difference in the positive rate of strains isolated from the surface of endotracheal tube under different indwelling time in 30 cases ( χ2=1.03, P=0.598). Among of 13 neonates in group A, there were seven strains isolated from ETT-BF, mainly Gram-positive bacteria which turned out to be mainly Gram-negative bacteria with the prolongation of endotracheal tube indwelling time. Of the seven VAP cases, strains isolated from the lower respiratory tract secretion were consistent with the strains isolated from the surface of the corresponding endotracheal tube in five cases, which were Serratia liquefaciens, Klebsiella acidogenes, Serratia marcescens, Flavobacterium meningosepticum and Stenotrophomonas maltophilia, and the drug resistance was consistent. Conclusions:The colonization bacteria of early ETT-BF may come from the upper respiratory tract, with less migration which rarely causes VAP. With the prolongation of endotracheal tube indwelling time, the incidence of VAP in neonates increases. The same pathogen can be found in the ETT-BF and lower respiratory tract secretion. The source of pathogen needs further study.

Clinical analysis of 33 cases with purulent meningitis complicated with hydrocephalus in neonates / 中华传染病杂志

Objective:To study the clinical characteristics of purulent meningitis complicated with hydrocephalus in neonates, and to analyze the risk factors of the disease.Methods:Neonates diagnosed with purulent meningitis complicated with hydrocephalus who hospitalized in the department of neonatology of the Second Affiliated Hospital of Wenzhou Medical University from January 2002 to August 2021 were selected as the case group. Neonates with positive pathogen cultures but no hydrocephalus during the same period were assigned by random number table method as the control group. The ratio of the control group and the case group was 2 ∶1. The clinical data such as bacteria distribution, cranial imaging, therapy and prognosis were compared between the two groups. The risk factors for hydrocephalus were predicted. Statistical analysis was conducted using chi-square test and multiple logistic regression analysis.Results:There were 33 cases in the case group and 66 cases in the control group. A total of 27 cases had confirmed pathogen results, of which 20 cases (74.1%) were Gram-negative bacteria and seven cases (25.9%) were Gram-positive bacteria. The time of diagnosis for hydrocephalus were 13.0(5.5, 28.5) days after the onset. Twenty-six cases received non-surgical treatment, while seven cases received surgery. The cure rate of case group was 42.4%(14/33), which was lower than that of control group (72.7%, 48/66), and the difference was statistically significant ( χ2=8.63, P=0.003). Univariate analysis showed that the incidences of protein>3 g/L in cerebrospinal fluid, glucose<2 mmol/L in cerebrospinal fluid, convulsions, central respiratory failure, intracranial hemorrhage and encephalomalacia in the case group were all higher than those in the control group, with statistical significance ( χ2=19.72, 12.04, 19.04, 5.73, 11.85 and 17.48, respectively, all P<0.050). Multivariate logistic regression analysis showed that convulsions (odds ratio ( OR)=4.476, 95% confidence interval ( CI) 1.091 to 18.363, P=0.037), intracranial hemorrhage ( OR=8.031, 95% CI 1.894 to 34.059, P=0.005) and encephalomalacia ( OR=35.189, 95% CI 2.954 to 419.150, P=0.005) were risk factors for neonatal purulent meningitis complicated with hydrocephalus. Conclusions:Gram-negative bacteria are common pathogen of neonatal purulent meningitis complicated with hydrocephalus. Convulsions, intracranial hemorrhage and encephalomalacia are important predictors for neonatal purulent meningitis complicated with hydrocephalus.

Mycoplasmahominis meningitis in an extremely preterm infant: a case report and literature review / 中华围产医学杂志

Objective:To summarize the clinical characteristics, diagnosis, treatment, and prognosis of neonatal meningitis caused by Mycoplasma hominis. Methods:We present the clinical data, diagnosis and treatment of a premature infant with Mycoplasma hominis meningitis who was admitted to the Department of Neonatology, the Second Affiliated Hospital of Wenzhou Medical University in June 2020. Relevant literature up to May 2021 was retrieved with the strategy of "( Mycoplasma hominis) AND (meningitis OR central nervous system OR cerebrospinal fluid) AND (newborn)" from CNKI, Wanfang, and PubMed database. The clinical manifestations, examinations, diagnosis, treatments and prognosis of cases with complete clinical data were summarized using two-sample rank sum test. Results:A premature female infant at gestational age of 27 +4 weeks presented with repeated low-grade fever and apnea since the 7 days of life. Cerebrospinal fluid testing in a local hospital showed neutrophil-based leukocytosis, which indicated purulent meningitis. However, empiric antibiotic treatment did not improve the infant's condition. The patient was transferred to our hospital due to dyspnea for 32 days and repeated fever for 25 days. Mycoplasma hominis was detected from the cerebrospinal fluid samples using metagenomic next generation sequencing (NGS). Treatment with erythromycin was ineffective, but the patient improved and discharged after changing to chloramphenicol for 18 d without any side effects. A total of 21 English articles were retrieved, and no Chinese literature was retrieved, involving 22 infants. Of the 23 cases including the present case, 14 were preterm, eight were term and one with no available data; 19 were born by vaginal delivery; the median age of onset was 11.0 d ( P25- P75: 7.0-18.0 d). The initial symptoms included fever, convulsions, irritability, and apnea. Blood routine examination showed elevated white blood cell count in ten cases and elevated C-reactive protein in seven cases. In the cerebrospinal fluid testing, white blood cell count increased in 19 cases, protein increased in 20 cases, and glucose decreased in 13 cases. Eight cases were confirmed by 16S RNA polymerase chain reaction amplification technology, seven by serum antibodies test, two cases by culture and microscopic findings, two cases by culture alone, one case by Mycoplasma kit, and one by NGS. The main treatment was the administration of tetracyclines, quinolones, chloramphenicol, lincosamides, etc. (alone or in combination). Two cases improved without using special anti- Mycoplasma drugs. Of the 23 patients, 15 had hydrocephalus, eight had intracranial hemorrhage, four had cerebral ischemic infarction, and two had cerebral abscess. Four cases had good prognosis,16 cases had adverse prognosis, and other three without available data. The median time to start sensitive antibiotic therapy in children with good prognosis was 4.5 d(3.6-5.0 d) after diagnosis, which was earlier than that in children with adverse prognosis [16.8 d (7.0-25.0 d)]( Z=－2.27, P=0.023). Conclusions:Mycoplasma hominis infection has non-specific clinical manifestations and should be considered for infants with intracranial infection that is not responding to empirical antibiotic treatment. NGS is helpful in detecting Mycoplasma hominis and chloramphenicol can be an option for the treatment.

Changes and influencing factors of splanchnic regional oxygenation before and after feeding in preterm infants with feeding intolerance / 中国新生儿科杂志

Objective:To study the changes and influencing factors of splanchnic regional saturation before and after feeding in preterm infants with feeding intolerance (FI).Methods:From December 2018 to August 2019, preterm infants with FI admitted to the neonatal intensive care unit of our hospital within 24 hours after birth were prospectively enrolled in this same-patient before-after study. Splanchnic regional saturation (rSsO 2) and cerebral regional oxygenation (rSc0 2) 5 minutes before feeding and 1 hour after feeding were monitored using near-infrared spectroscopy (NIRS). The average values of rScO 2, rSsO 2 and splanchnic-cerebral oxygenation ratio (SCOR) before and after feeding were calculated. The clinical data including postnatal age, corrected gestational age and feeding methods (breastfeeding or formula feeding) were collected. Single-factor correlation analysis and multiple linear regression were used to analyze the influencing factors of rSsO 2 before and after feeding. Results:A total of 41 preterm infants were included. No significant differences existed in rSsO 2, rScO 2 and SCOR before and after feeding ( P>0.05). The feeding methods showed relative prominent influences on the changes of rSsO 2 and SCOR before and after feeding. The breastfeeding infants had smaller changes of rSsO 2 and SCOR before and after feeding compared with formula feeding infants, the regression equations were Y=5.538-4.065X (model complex correlation coefficient was 0.414 determination coefficient R2=0.171, F=8.050, P<0.01) and Y=0.109-0.075X (model complex correlation coefficient was 0.405 determination coefficient R=0.1642, F=7.655, P<0.01). Conclusions:Proper feeding will not increase rSsO 2 in preterm infants with FI. Comparing with formula feeding infants, breastfeeding infants has more stable post-feeding rSsO 2.Breastfeeding should be the first choice for preterm infants with FI.

The short-term and medium-term outcomes of children with type-Ⅲ congenital esophageal atresia after surgery / 中华胸心血管外科杂志

Objective:To analyze the short-term and medium-term survival status of children with congenital esophageal atresia, and to provide reference for clinical multidisciplinary management of children with congenital esophageal atresia.Methods:The clinical data of neonates with type Ⅲ congenital esophageal atresia who were operated in our hospital between November 2007 to November 2018 and followed up in this hospital were analyzed retrospectively.Results:Among the 62 cases, 16 cases were discharged automatically, 1 case died, and 45 cases were included in the short-term follow-up. 35 cases were classified as gross Ⅲa, 10 as Ⅲb, 5 as long segment type, 44 patients accepted one-stage surgery, 1 infant accepted delayed operation, 9 infants received second operations. Anastomotic leakage occurred in 8 cases (17.8%), anastomotic stenosis in 11 cases (24.4%), recurrence of tracheoesophageal fistula in 2 cases (4.4%), blood flow infection in 14 cases(31.1%), incision infection in 4 cases (8.9%). The medium-term survival status of 38 cases: 2 cases died of aspiration, 29 cases (76.3%) of anastomotic stenosis underwent esophageal dilatation, 5 cases (13.2%) of dysphagia when 1.5 years old, 6 cases (15.8%) of malnutrition. After multidisciplinary collaboration, the survival rate increased (57.1% vs. 85.3%, P=0.013), and the incidence of anastomotic leakage decreased (46.4% vs. 20.6%, P=0.03). Conclusion:The quality of life of children with congenital esophageal atresia can be improved by multidisciplinary cooperation and standardized postoperative follow-up.

Neonatal lateral meningocele syndrome: report of a case and literature review / 中华围产医学杂志

Objective:To investigate the clinical characteristics and pathogenic gene mutation of lateral meningocele syndrome(LMS).Methods:We retrospectively collected the clinical manifestations, laboratory examination, imaging examinations, and genetic analysis of a neonate with LMS which was diagnosed at the Department of Neonatology of the Second Affiliated Hospital of Wenzhou Medical University in May 2020. Relevant literature up to February 2021, retrieved from PubMed, OMIM, CNKI, Wanfang, and CQVIP database with the terms of "lateral meningocele syndrome", " NOTCH3", were reviewed to summarize the clinical characteristics, pathogenesis, and genetic etiology of this disease. Results:A full-term male newborn was admitted to our hospital due to feeding difficulty 7 d after birth. The clinical characteristics included hypotonia, dysphagia, hypertension, lateral spinal meningocele, craniofacial anomaly, and cryptorchidism. Abnormal spinal MRI and brainstem evoked potential were also observed. Whole exome sequencing revealed a heterozygous frameshift variation c.6667_6686del(p.Ala2223Profs*12) of NOTCH3 gene located in 19p13.12, which was not detected in the parents. Only 12 English literature were retrieved, with 17 patients from 15 pedigrees. Out of the 18 patients including the index case, 10 were genetically diagnosed as LMS. The age at diagnosis ranged from 15 d to 55 years. Regarding the clinical features, multiple lateral thoracolumbar spinal meningoceles (18/18) was the most common one, followed by retrognathia and low-set ears (16/18), eyelid ptosis and down slanting palpebral fissures (15/18), hypotonia (13/18), hypertension (11/18), developmental delay (9/18), mixed or conductive hearing loss (9/18), cardiovascular dysplasia (7/18), and cryptorchidism (7/10). A total of nine NOTCH3 gene variants were detected, all were heterozygous variants, including six frameshift and three nonsense variants. Conclusions:LMS is caused by NOTCH3 gene mutation with the clinical characteristics including multiple lateral thoracolumbar spinal meningoceles, craniofacial dysmorphisms, hypotonia, hypertension, developmental delay, difficulty in feeding, cryptorchidism, etc.

The clinical value of cerebrospinal fluid tumor necrosis factor-α and resolvin D1 in neonatal purulent meningitis / 中国新生儿科杂志

Objective To study the clinical value of tumor necrosis factor-α (TNF-α) and resolvin D1 (RvD1) concentrations in cerebrospinal fluid (CSF) of neonatal purulent meningitis(NPM).Method From June 2016 to June 2017,neonates of suspected NPM admitted to the neonatology department of our hospital were studied prospectively.Their CSF was examined before the use of antibiotics.The patients were assigned into NPM group and non-NPM group.After 7 to 10 days of treatment,according to the clinical symptoms and the reexamination results of CSF,patients in the NPM group were further assigned into the improved group and the unimproved group.The levels of TNF-α and RvD1 in CSF were measured using enzyme-linked immunosorbent assay (ELISA) method,and SPSS 22.0 was used for statistical analysis.Result A total of 23 patients were included in the NPM group (18 in the improved group and 5 in the unimproved group) and 30 in the non-NPM group.The levels of TNF-α and RvD1 in the CSF of the NPM group were higher than the non-NPM group [TNF-α:(0.263 ±0.088) pg/ml vs.(0.087 ±0.001) pg/ml,RvD1:(2.017 ± 0.171) pg/ml vs.(0.563 ±0.048) pg/ml] (P ＜0.05).After 7 to 10 days of treatment,TNF-α and RvD1 decreased in the improved NPM group[TNF-α:0.083 (0.078,0.111) pg/ml vs.0.122 (0.098,0.214) pg/ml,RvD1:1.242 (0.740,2.098) pg/ml vs.1.791 (1.371,2.804) pg/ml] (P ＜ 0.05),and increased in the unimproved NPM group [TNF-α:2.239 (1.309,2.806) pg/ml vs.0.102 (0.100,1.312) pg/ml,RvD1:2.614 (1.265,2.940) pg/ml vs.0.139 (0.103,0.276) pg/ml] (P ＜ 0.05).The reexamination results of TNF-oα in the NPM group were lower than the examination results before the use of antibiotics of the non-NPM group,and RvD1 higher than the non-NPM group (P ＜ 0.05).Conclusion TNF-α and RvD1 in CSF have clinical value for the early diagnosis and therapeutic evaluation of NPM.

Predictive factors of mortality in extremely preterm infants / 中华儿科杂志

Objective@#To investigate the predictive factors of mortality in extremely preterm infants.@*Methods@#The retrospective case-control study was accomplished in the Second Affiliated Hospital and Yuying Children's Hospital of Wenzhou Medical University. A total of 268 extremely preterm infants seen from January 1, 1999 to December 31, 2015 were divided into survival group (192 cases) and death group (76 cases). The potential predictive factors of mortality were identified by univariate analysis, and then analyzed by multivariate unconditional Logistic regression analysis. The mortality and predictive factors were also compared between two time periods, which were January 1, 1999 to December 31, 2007 (65 cases) and January 1, 2008 to December 31, 2015 (203 cases).@*Results@#The median gestational age (GA) of extremely preterm infants was 27 weeks (23+3-27+6 weeks). The mortality was higher in infants with GA of 25-<26 weeks (OR=2.659, 95% CI: 1.211-5.840) and<25 weeks (OR=10.029, 95% CI: 3.266-30.792) compared to that in infants with GA> 26 weeks. From January 1, 2008 to December 31, 2015, the number of extremely preterm infants was increased significantly compared to the previous 9 years, while the mortality decreased significantly (OR=0.490, 95% CI: 0.272-0.884). Multivariate unconditional Logistic regression analysis showed that GA below 25 weeks (OR=6.033, 95% CI: 1.393-26.133), lower birth weight (OR=0.997, 95% CI: 0.995-1.000), stage Ⅲ necrotizing enterocolitis (NEC) (OR=15.907, 95% CI: 3.613-70.033), grade Ⅰ and Ⅱ intraventricular hemorrhage (IVH) (OR=0.260, 95% CI: 0.117-0.575) and dependence on invasive mechanical ventilation (OR=3.630, 95% CI: 1.111-11.867) were predictive factors of mortality in extremely preterm infants.@*Conclusions@#GA below 25 weeks, lower birth weight, stage Ⅲ NEC and dependence on invasive mechanical ventilation are risk factors of mortality in extremely preterm infants. But grade ⅠandⅡ IVH is protective factor.

Clinical characteristics and prognosis of neonatal VACTERL association in 33 cases / 中国新生儿科杂志

Objective To study the clinical characteristics,treatment and prognosis of neonatal VACTERL association.Method The clinical data of newborns diagnosed with VACTERL association from January 2010 to December 2015 were collected and retrospectively analyzed.Result A total of 33 patients diagnosed with VACTERL association were included,including 23 males and 10 females.Among them,17 cases were term infants,15 cases premature infants and 1 case of overdue birth,with an admission age of 1 to 24 days.The most common deformities were cardiac anomalies (C) in 27 cases (81.8％),followed by anal atresia/anorectal malformation (A) in 25 cases (75.8％),renal deformity (R) in 24 cases (72.7％),limb abnormalities (L) in 20 cases (60.6％),Tracheoesophageal fistula (TEF) in 8 cases (24.2％) and vertebral abnormalities (V) in 3 cases (9.1％).11 cases (33.3％) had other deformities.Among these 33 patients,24 cases had 3 types of malformations and 9 cases had 4 types of malformations.The most common combination was ACR (n =8).20 patients had no abnormalites on chromosome karyotype test including 2 patients had normal gene microarray results.16 patients received surgical treatment during neonatal period and 13 of them recovered and discharged.Among the other 17 cases received no surgery,only 1 patient improved and discharged.A telephone follow-up was proceeded in 14 discharged cases at 1 year old.Among them,13 cases had good prognosis,however,the remaining one was dead.Conclusion VACTERL association is a rare non-random combination of multiple malformations.The early discovery and appropriately treatment after diagnosis will improve the prognosis and prevent death.Doctors should reinforce the ability to detect various types of deformities and examine the chromosome and gene properly.

Survival rates and complications among 243 cases of extremely low birth weight infants / 中国新生儿科杂志

Objective To review the trends of survival rates and complications in extremely low birth weight (ELBW) infants and to improve the prognosis of ELBW infants.Method From January 1999 to December 2015,ELBW infants in our hospital were retrospectively studied.Their survival rates and complications were compared among groups with different birth weight,and the risk factors for survival were identified using multivariate unconditional logistic regression analysis.Result A total of 243 ELBW infant were collected.The median gestational age of ELBW infant was 27.3 weeks (23 ～ 34 weeks),and their median birth weight was 890 g (490 ～ 995 g).Excluding 40 cases refused treatment,the cure and survival rates of the remaining 203 ELBW infants were 43.8％ (89/203) and 65.0％ (132/203),respectively.The survival rate in ELBW infant with birth weight ＜ 600 g was 0/3,increased to 70.8％ (68/96) when birth weight was 900 ～ 999 g,with an ascending trend with increased birth weight (x2 trend =12.673,P ＜0.001).The most common complications of 243 cases were neonatal respiration distress syndrome [87.7％ (213/243)],sepsis [45.3％ (110/243)],intraventricular hemorrhage [37.4％ (91/243)],bronchopulmonary dysplasia [36.6％ (89/243)] and pheumonia [36.6％ (89/243)].The incidence of complications (including intracerebral hemorrhage and hydrocephalus),decreased with increased birth weight.Multivariate unconditional logistic regression analysis found that birth weight below 800 g (＜ 700 g:OR =22.333,95％ CI 1.493 ～ 334.148,P =0.024;700 ～ 799 g:OR =3.573,95％ CI 1.075 ～ 11.874,P =0.038),stage Ⅲ necrotizing enterocolitis (OR =8.803,95％ CI 1.308 ～ 59.244,P =0.025),stage Ⅲ and Ⅳ of intraventricular hemorrhage (OR =8.902,95％ CI 1.127 ～ 70.338,P =0.038) and mechanical ventilation (OR =3.597,95％ CI 1.043 ～ 12.410,P =0.043) were risk factors affecting the ELBW infant's survival.Conclusion As birth weight increases,the survival rate also increases,and the rate of complications decreases.Birth weight,stage Ⅲ necrotizing enterocolitis,stage Ⅲ and Ⅳ intraventricular hemorrhage and mechanical ventilation are risk factors for the ELBW infant's survival.

Neonatal asplenia syndrome:clinical characteristics and prognosis of 8 cases / 中国新生儿科杂志

Objective To summarize the clinical characteristics of neonatal asplenia syndrome to improve the understanding of the disorder. Methods Newborns with neonatal asplenia syndrome admitted to the neonatal department of our Hospital from June 2008 to July 2015 were recruited and their gender, birth weight, gestational age, clinical manifestations, imaging features, laboratory examinations, treatments and prognosis were analyzed. Results A total of 8 newborns with asplenia syndrome were studied. All the patients presented with cyanosis at birth, 5 of them with heart murmur, 3 with apical impulse in the right ( dextrocardia) thorax and complex congenital heart diseases were found in all of them by echocardiogram examinations. 2 of them were diagnosed congenital heart diseases before birth by the fetal ultrasound. 2 cases combined with congenital imperforate anus and cutaneous fistulas. 1 case was found right renal agenesis and Howell-Jolly was seen in another case. All the 8 patientsˊ parents refused medical advices about continuing treatments and left hospital. Among them, 4 patients died in the neonatal period, 2 lost in follow-up and only 2 survived, one for 19 months and the other for 4 years. Conclusions Patients with asplenia syndrome presented absence of spleen, visceral inversion, severe cardiovascular malformations and other malformations. When the cyanosis, heart murmur and abnormal position of apical impulse were found in the newborns, asplenia syndrome should be considered and imaging examinations such as chest X-ray, ultrasound, visceral angiography and more should be ordered immediately, in order to make an early diagnosis of the disease.

Clinical analysis of 8 cases of neonatal septicemia caused by Candida haemulonii in neonatal intensive care unit / 中华儿科杂志

<p><b>OBJECTIVE</b>To study the clinical characteristics, antibiotics sensitivity, outcome and risk factors of neonatal septicemia caused by Candida haemulonii.</p><p><b>METHOD</b>A retrospective analysis was performed on clinical characteristics and antibiotics sensitivity after 8 cases of neonatal septicemia caused by Candida haemulonii were identified; each of these patients had at least one positive result of bacterial culture for Candida haemulonii.</p><p><b>RESULT</b>The 8 cases born at gestational age of 178-260 d, weighing 835-2 055 g, developed the infection from May to July at 10-34 d after hospitalization. Among the 8 patients, 7 were cured, 1 died during hospitalization after the treatments were given up because of serious complications. The 8 patients with septicemia caused by Candida haemulonii had similar clinical chariacteristics to those of other neonatal candidemia, such as apnea, fever, abdominal distension, jaundice etc. They had abnormal auxiliary examination with increased C-reactive protein (CRP), declined platelet (PLT) count to different degrees. All of the 8 patients had peripherally inserted central catheter (PICC) and broad-spectrum antibiotics were applied. C. haemulonii as an emergent fungal pathogen had varying degrees of resistance to fluconazole, amphotericin B, itraconazole, or ketone, but was susceptible to voriconazole.</p><p><b>CONCLUSION</b>The characteristics of neonatal septicemia caused by Candida haemulonii were similar to those caused by other candida, and the main risk factors are the low birth weight, PICC, and usage of broad-spectrum antibiotics. It mainly occurred in May to July which is hot and humid season.</p>

Effect of di-(2-ethylhexyl) phthalate on lung morphology of newborn rats / 中华围产医学杂志

Objective To investigate the effect of di-(2-ethylhexyl) phthalate (DEHP) on the postnatal lung development in newborn rats.Methods A total of 60 newborn Sprague-Dawley rats (weighing 5.0-8.0 g) in five age groups were studied in the first experiment.The rats were divided based on the different postnatal ages:postnatal day (PND)I,PND4,PND7 and PND14.A total of 45 newborn Sprague-Dawley rats (weighing 5.0-8.0 g) were randomly divided into three groups according to the dosage of DEHP administered in the second experiment.The newborn rats were administered DEHP through intraperitoneal injection at 10 (low-dose subgroup),100 (medium-dose subgroup) or 750 (high-dose subgroup) mg/kg daily from PND1 to PND13.The rats were sacrificed on PND14.Pups were sacrificed with lethal dose injection of pentobarbital sodium.The lung was removed.The right middle lobes were used for analysis.The tissue was processed for histology and lung sections were stained with HE for light microscopic (LM) morphometric measurement.The analysis was performed by means of a digital image analysis system,including pulmonary interstitial area ratio (IAR) and total length density of all segments.One-way ANOVA,LSD and Dunnet T3 methods were used for statistical analysis.Results In the normal controls,IAR decreased significantly by (31.97±5.03) ％,(30.05±3.57)％,(25.33± 1.83)％ and(22.01 ±2.19)％,respectively,from PND1 to PND14 (P＜0.05 or P＜0.01).IAR in medium-and high-dose subgroups increased significantly by (24.11 ±2.78)％ and (26.53± 3.42)％,respectively on PND 14.The total length density of all segments in unit area lung volume increased significantly by 0.047 8±0.003 7,0.050 0±0.002 9,0.071 2±0.003 0 and 0.084 4±0.004 3,respectively from PND1 to PND14 (P＜0.01).In the DEHP treated animals,when compared with the control group,IAR was significantly higher on PND14 (P＜0.05 or P＜0.01),while the total length density of all segments in unit area lung volume was significantly decreased (P＜0.05 or P＜0.01).Length density in medium-and high-dose subgroups were higher than that of low-dose subgroup by 0.082 9±0.001 8,0.077 2±0.002 0 and 0.071 3±0.003 7,respectively on PND14 (P＜0.05 or P＜0.01).Conclusions Medium-and high-dose DEHP affect the postnatal lung development in rats in a dose-dependent mode.

Clinical investigation of formula feeding in extremely low birth weight infants / 中华儿科杂志

<p><b>OBJECTIVE</b>To explore the relationship between gastric retention and full enteral feeding during the course of feeding in extremely low birth weight (ELBW, birth weight <1 000 g) infants.</p><p><b>METHOD</b>A total of 43 ELBW infants were fed with formula according to the strategy for premature infants feeding of Canadian Society of Neonatology. The information such as gastric retention, the time they finish full enteral feeding and sucking spontaneously and complication were recorded. These infants had transition to full enteral feeding step by step since initiating formula feeding on the second day of life. The volume of gastric retention and the duration of gastric retention was analyzed with the time of attaining full enteral feeding and sucking spontaneously by linear regression.</p><p><b>RESULT</b>Forty-one infants finished the course, the remaining 2 infants got necrotizing enterocolitis (NEC) and were rescued by surgery. The incidence was 4.6%. In 18 infants full enteral feeding could not be initiated successfully on the second day of life, the incidence was 43.9%. The peak duration of gastric retention was the first week of feeding. The average time of attaining enteral feeding was (26.71 ± 12.24) days. The proportion of different residual contents was simlar, the major content was milky content after 3 weeks of feeding. The gastric retention time had a significant effect of on the time of attaining full enteral feeding (β = 1.045, P = 0.001) and sucking well (β = 0.787, P = 0.034) .</p><p><b>CONCLUSION</b>The course of formula feeding ELBW infants to attaining full enteral feeding was a long period, in the early stage of formula feeding the occurrence of gastric retention was high; the amount of formula during the first week of feeding should be slowly increased as compared to the second week; the present strategy and aggressive strategy should be done 2 weeks later. The time of attaining full enteral feeding can be predicted by the duration of gastric retention.</p>

11beta-hydroxysteroid dehydrogenase type 2 enzyme activity effect after exposures phthalate esters in maternal / 中华预防医学杂志

<p><b>OBJECTIVE</b>To study the association between phthalate esters (PAEs) metabolites in maternal urine and 11beta-hydroxysteroid dehydrogenase type 2 (11β-HSD2 ) enzyme activity, explore the possible mechanism of PAEs effect on fetal development.</p><p><b>METHODS</b>All of 33 cases of intrauterine growth retardation (IUGR) newborn were selected by random sampling in 2012. And 33 cases of normal control newborn were enrolled, use high performance liquid chromatography-tandem mass spectrometry method was used to detect 4 kinds of phthalate esters (PAEs) metabolites in maternal urine: mono-n-butyl phthalate ester (MBP), mono (2-ethylhexyl) phthalate (MEHP), mono (2-ethyl-5-hydroxyhexyl) phthalate (MEHHP), mono (2-ethyl-5-oxohexyl) phthalate (MEOHP) and three kinds of cortisol corticosterone metabolites, tetrahydrocortisol (THF), allo-tetrahydrocortisol (allo-THF), tetrahydrocortisone (THE), and analyze the association between phthalate esters (PAEs) metabolites in maternal urine and 11β-HSD2 enzyme activity.</p><p><b>RESULTS</b>MBP, MEHP, MEHHP, MEOHP metabolites can be detected in 98% (65 cases) , 89% (59 cases), 91% (60 cases), 91% (60 cases) of all 66 maternal urine samples, respectively. The median concentrations of test material in case group were 31.20 ng/ml for MBP, 24.61 ng/ml for MEHHP, 11.72 ng/ml for MEOHP and 48.67 ng/ml for SumDEHP which were significantly higher than those of the control group (were 17.32, 12.03, 5.68 and 28.64 ng/ml); 11β-HSD2 activity in case group ((THF+allo-THF)/THE = (0.79 ± 0.09) ng/ml) was significantly lower than that of the control group((THF+allo-THF)/THE = (0.58 ± 0.04) ng/ml); PAEs metabolites MBP (β' = 1.12), MEHHP(β' = 1.14), MEOHP(β' = 1.10), SumDEHP(β' = 1.08) in baby boy mother's urine was reversely correlated to 11β-HSD2 activity.</p><p><b>CONCLUSIONS</b>PAEs could affect fetal development by inhibit 11β-HSD2 activity.</p>

Analysis of 75 cases lower respiratory tract infection by respiratory syncytial virus / 中华围产医学杂志

Objective To summarize the clinical features of neonatal lower respiratory tract infection of respiratory syncytial virus (RSV). Methods Data of newborns admitted into Deparrment of Neonatology of Yuying Children Hospital of Wenzhou Medical College from January to December 2010 with RSV lower respiratory tract infection were retrospectively analyzed. The characteristics of clinical manifestation,examination,treatment and prognosis were studied.Factors affecting the duration of hospitalization were analyzed with x2 test. Results Of 354 cases of neonatal lower respiratory tract infection,75 (21.2％) were RSV positive,whose attack time was from 5 to 25 days with an average of 13.2 days; and there were two preterm infants (2.7％).The chief clinical manifestations were cough (100.0％,75/75),followed by shortness of breath (56.0％,42/75),spittle (52.0％,39/75) and fever with temperature ≥38.0 ℃ (25.3％,19/75).The white blood cell count of one newborn was higher than 20.0× 109/L; 52 cases (69.3％) had higher blood lymphocyte percentage (＞ 0.48) ; eight cases (10.7％) had higher level of C-reactive protein (≥ 8 mg/L).Among the 58 patients who underwent blood gas analysis,28 (48.3％) had carbon dioxide retention (partial pressure of carbon dioxide≥ 45 mm Hg). Chest X-ray results within 48 hours after hospitalization suggested that 52.0％ patients (n =39) had pneumonia and 20.0％ (n=15) had bronchitis.Among 69 patients who had sputum cultures,20 cases were positive.And for the 11 cases who had blood cultures,three were positive for Staphylococcus epidermidis.Finally,73 cases were cured,two were improved and no death was reported.The duration of hospitalization was from 3 to 17 days with an average of 8.4 days.Neonates with RSV lower respiratory tract infection who had higher C-reactive protein (≥8 mg/L),carbon dioxide retention,nasal oxygen catheter or assisted ventilation had higher percentage of longer hospital stay (≥7 days). Conclusions Compared with infants,the clinical characteristics of RSV lower respiratory tract infections in neonates are atypical,which are mainly menifested by cough,shortness of breath,spittle,but rare wheezing.There are no effective interventions against RSV infection except for supportive therapy.

Clinical analysis of congenital diaphragmatic hernia in newborn infants: report of 33 cases / 中华胸心血管外科杂志

Objective To review the clinical experience of diagnosis and treatment of the congenital diaphragmatic hernia in newborn infants. Methods Thirty-three neonates were diagnosed having congenital diaphragmatic hernia in our hospital from Jan. 1,2004 to Sept. 30, 2009. The clinical data was retrospectively reviewed. Results 21 cases were treated surgically and 17 survived, while 4 cases died. The main cause of death was congenital pulmonary dysplasia. Another 12 cases refused to accept surgical treatment and they all died, one died shortly after he was born. Four cases who had been diagnosed by prenatal ultrasonography were survived. Conclusion The mortality of congenital diaphragmatic hernia in neonates was still high. Prenatal diagnosis of the congenital diaphragmatic hernia is very important and the cooperation between the obstetrics, neonatology and cardiothoracic surgery will improve the survival rate of congenital diaphragmatic hernia in newborn infants.

Effect of dexamethasone on the expression of matrix metalloproteinase 2 and type Ⅳcollagen in perinatal rat alveoli / 中华围产医学杂志

Objective To investigate the variations of matrix metalloproteinase 2 (MMP2) and type Ⅳcollagen expression in newborn rat alveoli at different stage during pregnancy and the influence of dexamethasone (DXM). Methods Twenty-four Sprague-Dawley (SD) pregnant rats were randomly divided into control group and observe group (12 in each group). Normal saline (0.5 ml) or DXM [0.8 mg/(kg?d)] were injected muscularly to these two groups, respectively, on the 18th,19th and 20th day after conception. All rats were delivered normally at term. The lung tissue were examined in 20 days gestation fetal rats and newborn rats on the 1st, 4th, 10th and 14th day after birth. Immunohistochemical studies were performed for MMP2 and type Ⅳ collagen. Reverse transcriptase-polymerase chain reaction (RT-PCR) was used to test the MMP2 mRNA expression. Results The MMP2 expression of day 4 rats (20.14?3.39) was stronger than that of fetal rats lung (16.35?2.36), and decreased in day 10 rats(15.93?1.94). while the general MMP2 expression in the observe group was significantly less than the control(P0.05). The expression of type Ⅳcollagen was stronger than the control group. Conclusion DXM applied in later stage of gestation inhibits the expression of MMP2, reduces the degradation of type Ⅳcollagen, which affect basement membrane and alveoli development.