The patient, a 20-day-old male, was admitted due to respiratory distress that had persisted for 20 days after birth. The main clinical manifestations included gradually worsening respiratory distress and edema. The patient received treatment including mechanical ventilation and diuretics. Echocardiography indicated cardiomegaly, pulmonary hypertension, and heart failure. A comprehensive systemic examination revealed a significant blowing vascular murmur upon auscultation over the anterior fontanelle and bilateral temporal regions. Further imaging studies including cranial magnetic resonance imaging, magnetic resonance angiography, and magnetic resonance venography showed marked dilation of the superior sagittal sinus, transverse sinus, and sigmoid sinus, leading to a definitive diagnosis of dural arteriovenous fistula. After a multidisciplinary consultation, the patient underwent cerebral angiography and partial embolization of the left parietal arteriovenous fistula. Postoperatively, the patient was treated with positive inotropes, diuretics, and fluid restriction. Ultimately, the patient was weaned off the ventilator and discharged in improved condition. This article reports a case of neonatal dural arteriovenous fistula presenting with respiratory distress and discusses the multidisciplinary approach to managing this condition, which aids in early disease recognition and guides clinical decision-making.
Humans ; Male ; Infant, Newborn ; Central Nervous System Vascular Malformations/diagnosis* ; Respiratory Distress Syndrome, Newborn/etiology* ; Embolization, Therapeutic

OBJECTIVES: To study the significance of interleukin-6 (IL-6) and interleukin-27 (IL-27) in the differential diagnosis of acute respiratory distress syndrome (ARDS) and neonatal respiratory distress syndrome (NRDS) in preterm infants. METHODS: The preterm infants with the manifestation of respiratory distress who were treated in the Neonatal Diagnosis and Treatment Center, Children's Hospital of Chongqing Medical University, from March to November 2021, were enrolled in this prospective study. According to the diagnosis results, they were divided into two groups: ARDS group (n=18) and NRDS group (n=20). ELISA was used to measure the plasma levels of IL-6 and IL-27. The receiver operating characteristic (ROC) curve was used to analyze the value of each index in the diagnosis of ARDS. RESULTS: The ARDS group had significantly higher plasma levels of IL-6 and IL-27 than the NRDS group (P<0.05). The ROC curve analysis showed that IL-6 had an area under the ROC curve (AUC) of 0.867 for the diagnosis of ARDS, with a sensitivity of 61.1% and a specificity of 95.0% at the cut-off value of 56.21 pg/mL. The ROC curve analysis also showed that IL-27 had an AUC of 0.881 for the diagnosis of ARDS, with a sensitivity of 83.3% and a specificity of 80.0% at the cut-off value of 135.8 pg/mL. CONCLUSIONS Plasma IL-6 and IL-27 can be used as biological indicators for early differential diagnosis of ARDS and NRDS in preterm infants.
Diagnosis, Differential ; Humans ; Infant, Newborn ; Infant, Premature ; Interleukin-27/blood* ; Interleukin-6/blood* ; Pilot Projects ; Prognosis ; Prospective Studies ; ROC Curve ; Respiratory Distress Syndrome/diagnosis* ; Respiratory Distress Syndrome, Newborn/diagnosis*

Objective To evaluate the value of serum aminoterminal pro-brain natriuretic peptide (NT-proBNP) and interleukin(IL)-6 levels in diagnosis and severity assessment of the preterm infants with respiratory distress syndrome(RDS).Methods Totally 150 preterm infants with RDS who were hospitalized in our center from August 2016 to March 2018 were enrolled in this study as the RDS group. These infants were further divided into grades 1,2,3,and 4 according to chest radiography. In addition,158 preterm infants without RDS hospitalized in our center during the same period were included as the controls (control group). Serum NT-proBNP and IL-6 levels were measured by ELISA on days 1,3,and 7 after birth,and their pulmonary arterial pressure (PAP) was monitored as well.Results Serum NT-proBNP and IL-6 levels in RDS group were significantly higher than those in control group on day 1 (t=-91.04,P=0.000;t=-11.03,P=0.000),day 3 (t=-89.10,P=0.000;t=-9.909,P=0.000),and day 7 (t=-87.91,P=0.000;t=-8.548,P=0.000). There were significant differences in NT-proBNP levels among grades 1,2,3,and 4 on day 1 (F=50.89,P=0.000),day 3 (F=49.16,P=0.000),and day 7 (F=45.45,P=0.000),showing an increasing trend. Serum IL-6 levels showed no significant difference among grades 1,2,3,and 4 on day 1 (F=0.89,P=0.448),day 3 (F=0.76,P=0.518),and day 7 (F=0.85,P=0.469). The PAP of the RDS group on days 1,3,and 7 was (49.3±3.7),(40.1±5.4),and (39.0±2.6)mmHg (1 mmHg=0.133 kPa),which were significantly higher than those of the control group (35.0±2.7)mmHg (t=-90.01,P=0.000),(30.0±3.1)mmHg (t=-81.90,P=0.000),(26.0±3.0)mmHg (t=-88.89,P=0.000). Thus,there was a positive correlation between NT-proBNP and IL-6 levels (r=0.876,P=0.000) and a positive correlation between NT-proBNP and PAP (r=0.916,P=0.000) in preterm infants with RDS.Conclusion Monitoring serum NT-proBN contributes to early diagnosis and disease severity assessment in preterm infants with RDS.
Biomarkers ; Early Diagnosis ; Humans ; Infant ; Infant, Newborn ; Infant, Premature ; Interleukin-6 ; Natriuretic Peptide, Brain ; Peptide Fragments ; Respiratory Distress Syndrome, Adult

Mutations of the surfactant protein (SP)-C gene (SFTPC) have been associated with neonatal respiratory distress syndrome (RDS) and childhood interstitial lung disease (ILD). If accurate diagnosis and proper management are delayed, irreversible respiratory failure demanding lung transplantation may ensue. A girl was born at term but was intubated and given exogenous surfactant due to RDS. Cough and tachypnea persisted, and symptoms rapidly progressed at 16 months of age despite treatment with antibiotics, oral prednisolone, methylprednisolone pulse therapy, and intravenous immunoglobulin. At 20 months, she visited our hospital for a second opinion. A computed tomography scan showed a diffuse mosaic pattern with ground-glass opacity and subpleural cysts compatible with ILD. A video-assisted thoracoscopic lung biopsy revealed ILD with eosinophilic proteinaceous material and macrophages in the alveolar space. Bilateral lung transplant from a 30-month-old child was done, and she was discharged in room air without acute complications. Genetic analysis revealed a novel c.203T>A, p.Val68Asp mutation of SP-C, based on the same exon as a known pathogenic mutation, p.Glu66Lys.
Anti-Bacterial Agents ; Biopsy ; Child ; Child, Preschool ; Cough ; Diagnosis ; Eosinophils ; Exons ; Female ; Humans ; Immunoglobulins ; Lung Diseases, Interstitial* ; Lung Transplantation* ; Lung* ; Macrophages ; Methylprednisolone ; Prednisolone ; Referral and Consultation ; Respiratory Distress Syndrome, Newborn ; Respiratory Insufficiency ; Tachypnea

OBJECTIVE: To investigate the change of maternal characteristics, delivery and neonatal outcomes in gestational diabetes mellitus (GDM) over recent 10 years and to identify the risk factors associated with adverse outcome. METHODS: Consecutive GDM patients (n=947) delivered in our institution were included. Research period was arbitrarily divided into 2 periods (period 1: from 2006 to 2010, period 2: from 2011 to 2015). Multiple pregnancies or preexisting diabetes were excluded. Maternal baseline characteristics, delivery and neonatal outcomes were reviewed. Fetal biometric findings by prenatal ultrasonography were collected. Adverse pregnancy outcome (APO) was defined by the presence of one of the followings; shoulder dystocia, neonatal macrosomia (>4 kg), neonatal hypoglycemia (< 35 mg/dL), respiratory distress syndrome (RDS), and admission to the neonatal intensive care unit (NICU) in term pregnancy. RESULTS: Period 2 was associated with older maternal age (34 vs. 33, P < 0.001) and higher proportion of GDM A2 compared to period 1 (30.9% vs. 23.0%, P=0.009). By univariate analysis, APO was associated with increased body mass index (BMI) at pre-pregnancy (23.4 kg/m² vs. 21.8 kg/m², P=0.001) or delivery (27.9 kg/m² vs. 25.8 kg/m², P < 0.001), higher HbA1c at diagnosis (5.6% vs. 5.3%, P < 0.001) or delivery (5.8% vs. 5.5%, P=0.044), and larger fetal biometric findings (abdominal circumference [AC] and estimated fetal weight, P=0.029 and P=0.007, respectively). Multivariate analysis showed pre-pregnancy BMI (odds ratio [OR], 1.101; 90% confidence interval [CI], 1.028–1.180) and fetal AC (OR, 1.218; 90% CI, 1.012–1.466) were independently associated with adverse outcomes. CONCLUSION: Our study demonstrated the trends and relevant factors associated with the adverse outcomes.
Body Mass Index ; Diabetes, Gestational* ; Diagnosis ; Dystocia ; Female ; Fetal Macrosomia ; Fetal Weight ; Humans ; Hypoglycemia ; Infant, Newborn ; Intensive Care, Neonatal ; Maternal Age ; Multivariate Analysis ; Pregnancy ; Pregnancy Outcome ; Pregnancy, Multiple ; Respiratory Distress Syndrome, Newborn ; Risk Factors* ; Shoulder ; Ultrasonography, Prenatal

PURPOSE: Ultrasonography is non-ionizing, easy to operate, and performed at bedside in neonatal intensive care unit (NICU). We investigated the incidence of respiratory distress syndrome (RDS) with or without using lung ultrasound (LUS) in late preterm infants with postnatal respiratory difficulties. METHODS: We retrospectively reviewed medical records of 494 late preterm infants born at 34–36 weeks' gestation at Keimyung University Dongsan Medical Center. Fifty infants with postnatal respiratory difficulties were admitted to the NICU between May 2015 to October 2015 (period I), and forty-one were between November 2015 to February 2016 (period II). The diagnosis of RDS was based on chest radiography in period I. LUS was additionally performed at bedside in period II. All infants with RDS were received exogenous surfactant therapy. RESULTS: The overall incidence of RDS with surfactant replacement therapy was decreased in period II period II (9.4%, 20/212) compared to period I (14.5%, 41/282) (P=0.088). In terms of infants with postnatal respiratory difficulties, the incidence of RDS in period II (48.8%, 20/41) was significantly lower than that in period I (82.0%, 41/50) (P=0.001). There are no difference in the rate of reintubation, repeated doses of surfactant, oxygen demand at 48 hours after birth, air leak syndrome, pulmonary hemorrhage, persistent pulmonary hypertension of newborn, and mortality (P> 0.05). CONCLUSION: We could decrease the incidence of RDS with surfactant replacement therapy by using LUS in late preterm infants with postnatal respiratory difficulties. Further prospective studies are needed to apply LUS clinically to diagnose RDS.
Diagnosis* ; Female ; Hemorrhage ; Humans ; Incidence* ; Infant ; Infant, Newborn ; Infant, Premature* ; Intensive Care, Neonatal ; Lung* ; Medical Records ; Mortality ; Oxygen ; Parturition ; Persistent Fetal Circulation Syndrome ; Pregnancy ; Prospective Studies ; Radiography ; Respiratory Distress Syndrome, Newborn ; Retrospective Studies ; Thorax ; Ultrasonography*

OBJECTIVETo detect potential mutation of immunoglobulin μ -binding protein 2 (IGHMBP2) gene in a two-year-old patient with spinal muscular atrophy with respiratory distress type 1 (SMARD1).

METHODSGenomic DNA was extracted from peripheral blood sample from the patient and her parents, as well as cord blood sample from the fetus. Potential mutations of the coding region of the IGHMBP2 gene was detected with PCR and Sanger sequencing.

RESULTSA heterozygous missense mutation c.1060G>A and a frameshift mutation c.2356delG was detected in the patient. The mutations were respectively inherited from her father and mother. Neither mutation was found in DNA derived from the cord blood sample.

CONCLUSIONThe missense mutation c.1060G>A and frameshift mutation c.2356delG were probably causative for the disease. Analysis of the IGHMBP2 gene has provided an important clue for the etiology and prenatal diagnosis of SMARD1.

Adult ; Base Sequence ; Child, Preschool ; DNA Mutational Analysis ; DNA-Binding Proteins ; genetics ; Female ; Humans ; Infant ; Male ; Molecular Sequence Data ; Muscular Atrophy, Spinal ; genetics ; Pregnancy ; Prenatal Diagnosis ; Respiratory Distress Syndrome, Newborn ; genetics ; Transcription Factors ; genetics

OBJECTIVETo study the association between serum level of high-mobility group box 1(HMGB1) and neonatal respiratory distress syndrome (NRDS).

METHODSA total of 35 infants with NRDS and 35 normal neonates (control group) were enrolled. Peripheral venous blood samples were collected with 12-24 hours after birth. ELISA was used to measure the serum level of HMGB1.

RESULTSThe infants with mild and severe NRDS had a significantly higher serum level of HMGB1 than the control group (P<0.05). The infants with severe NRDS had a significantly higher serum level of HMGB1 than those with mild NRDS (P<0.05). The infants with NRDS who died had a significantly higher serum level of HMGB1 than those who survived (P<0.05). The receiver operating characteristic (ROC) curve showed that the optimal cut-off value for serum level of HMGB1 to predict NRDS was 625.3 pg/mL with an area under the ROC curve (AUC) of 0.846 (95%CI: 0.755-0.936), and the optimal cut-off value for serum level of HMGB1 to predict the death of infants with NRDS was 772.2 pg/mL with an AUC of 0.916 (95%CI: 0.813-1.000).

CONCLUSIONSInfants with NRDS have a significant increase in the serum level of HMGB1, and the serum level of HMGB1 can well predict the development and prognosis of NRDS.

Female ; HMGB1 Protein ; blood ; Humans ; Infant, Newborn ; Male ; Prognosis ; Respiratory Distress Syndrome, Newborn ; blood ; diagnosis

Extracorporeal membrane oxygenation (ECMO) was originated from heart-lung machine for cardiac surgery. This technique that receive the blood from venous system, oxygenate it and support to selected patients with severe respiratory or cardiac failure as flow and oxygen. ECMO can provide partial or total support, is temporary, and requires systemic anticoagulation. ECMO controls gas exchange and perfusion, stabilizes the patient physiologically, decreases the risk of ongoing iatrogenic injury, and allows enough time for decision, diagnosis, treatment, and recovery from the primary injury or disease. The two major ECMO modalities are venoarterial and venovenous. Until 1980s, ECMO usually used to pediatric respiratory failure. However after H1N1 influenza epidemic in the world, venovenous ECMO support for adult has been increased rapidly. Venoarterial ECMO support for cardiac failure and resuscitation also abruptly has been increased. As a support modality, cannula position and possibility of complication is different. Survival rate of ECMO has a range from 30% in extracorporeal cardiopulmonary resuscitation to 70% for acute myocarditis and acute respiratory distress syndrome in adult, and better in neonate and pediatrics. Advancing ECMO technology and increasing experience with ECMO techniques have improved patient outcomes, reduced complications and expanded the potential applications of ECMO. Awareness of the indications and implications of ECMO among physicians managing patients with severe but potentially reversible respiratory or cardiac failure may help facilitate better communication between health care teams and improve patient recovery.
Adult ; Cardiopulmonary Resuscitation ; Catheters ; Diagnosis ; Extracorporeal Membrane Oxygenation* ; Heart Failure ; Heart-Lung Machine ; Humans ; Infant, Newborn ; Influenza, Human ; Myocarditis ; Oxygen ; Patient Care Team ; Pediatrics ; Perfusion ; Respiratory Distress Syndrome, Adult ; Respiratory Insufficiency ; Resuscitation ; Survival Rate ; Thoracic Surgery

OBJECTIVETo investigate the association of ATP-binding cassette transporter A3 (ABCA3) gene mutations with severe neonatal respiratory distress syndrome (NRDS) and lung disease in children.

METHODThirty-eight children hospitalized with respiratory disorders in Children's Hospital of Chongqing Medical University from January 2010 to December 2011 were screened. Two mutations (E292V, G1221S) in the ABCA3 gene were identified. Interstitial lung disease (ILD) was present in 10 cases, NRDS was found in 23 and congenital pulmonary dysplasia in 5 cases. There were 24 males and 14 females, with an age range of 1 hour to 15 years. Genomic DNA was prepared from blood samples and sequences were analyzed by polymerase chain reaction (PCR). Clinical feature, imaging characteristics and the results of gene detection were retrospectively analyzed.

RESULTFour cases with ABCA3 gene mutations were found; 2 patients (case 2 and case 4) had the heterozygous mutation of ABCA3 E292V. One was a 3-hour-old girl and another was a 52-day-old boy, 2 patients (case 1 and case 4) had the heterozygous mutation of ABCA3 G1221S. One was a 78-day-old boy and another was a girl, 15 years and one month old. The family history was negative for respiratory disease. Three patients (case 1, 2, 4 ) had NRDS and 2 (case 1, 2) of them were premature. One patient (case 3) had normal growth and development. She was diagnosed clinically as interstitial lung disease (ILD) after admission. The clinical outcomes of 4 cases were various. Case 1 had recurrent wheezing and inhaled corticosteroid was needed. Case 2 died because she failed to wean from mechanical ventilator. Case 3 was discharged with improvement but lost to follow-up. Case 4 grows normally.

CONCLUSIONGenetic variants within ABCA3 may be the genetic causes or background of a contributor to some unexplained refractory NRDS, and chronic lung disease developed in latter childhood. Identification of ABCA3 genetic variants in NRDS infants is important to offer genetic counseling, as well as early prognosis estimation and intervention in pediatric chronic lung disease.

ATP-Binding Cassette Transporters ; genetics ; Adolescent ; Child ; Child, Preschool ; DNA Mutational Analysis ; Exons ; Female ; Heterozygote ; Humans ; Infant ; Infant, Newborn ; Lung ; diagnostic imaging ; pathology ; Lung Diseases, Interstitial ; diagnosis ; genetics ; Male ; Mutation ; genetics ; Radiography ; Respiratory Distress Syndrome, Newborn ; diagnosis ; genetics