No abstract available.
Female ; Humans ; Persistent Fetal Circulation Syndrome*

Inhaled nitric oxide (iNO) is a potent and selective pulmonary vasodilator agent that improves arterial oxygenation and subsequent clinical outcomes for newborn infants with persistent pulmonary hypertension of the newborn (PPHN). Along with beneficial pharmacological properties, iNO also shows toxicological effects. Although the side effects of iNO have not been fully understood, these need to be thoroughly considered and monitored for the safe and effective clinical use of iNO. This article presents a review of the side effects of iNO and short-term and long-term clinical prognosis in newborn infants > or =34 weeks' gestation with PPHN.
Female ; Humans ; Hypertension, Pulmonary* ; Infant, Newborn* ; Nitric Oxide* ; Oxygen ; Persistent Fetal Circulation Syndrome ; Pregnancy ; Prognosis*

OBJECTIVETo report a newborn infant who died of alveolar capillary dysplasia (ACD). The literature on about 20 cases of ACD was reviewed.

METHODSA retrospective review of records of infants from Medline with a diagnosis of ACD was carried out.

RESULTSThe case was a newborn female infant who developed respiratory distress 5 hours after an uncomplicated delivery. She died at the fourth day after birth despite full ventilatory support. The lung autopsy provided a diagnosis of ACD. In the 21 infants, 7 were male and 14 were female; 19 infants were born full-term and 2 were born pre-term. The birth weight of 19 infants and Apgar score of 15 infants were normal; 16 infants developed progressing tachypnea and cyanosis within 24 hours of age, 5 developed cyanosis at 1 day to 19 days. Echocardiography demonstrated a right to left shunt in the hearts of all the 21 infants, and pulmonary hypertension in 20 infants. Twenty infants were treated with conventional mechanical ventilation, 7 infants with high-frequency oscillatory ventilation and 12 infants with extracorporeal membrane oxygenation (ECMO). Fourteen infants were also treated with inhaled nitric oxide therapy and 4 with exogenous surfactant. Diagnostic open lung biopsy was performed in 6 infants. The chest radiography showed normal findings in 3 infants, pneumothoraces in 9 infants, reticular markings, granular, patchy or diffuse opacity in lungs of 7 infants, and decreased pulmonary vascular markings in two infants. All the 21 infants died; 8 of them died within 10 days of age, 7 within 30 days of age, and one died at the age of 4 months who was the longest survivor. Fourteen infants were associated with congenital malformations, such as cardiovascular, gastrointestinal, and genitourinary systems, including one infant associated with chromosomal abnormalities, two infants of familial genetic predisposition.

CONCLUSIONSAt present, ACD is still a disease with poor prognosis, significant medical expenses and no specific treatment. When respiratory failure or persistent pulmonary hypertension (PPHN) is persistent after routine treatment in an infant, ACD should be highly suspected and conventional open-lung biopsy should be preformed to confirm the diagnosis.

Female ; Humans ; Infant, Newborn ; Male ; Persistent Fetal Circulation Syndrome ; diagnosis ; pathology ; Pulmonary Alveoli ; abnormalities ; pathology

Persistent pulmonary hypertension of the newborn (PPHN) secondary to congenital diaphragmatic hernia (CDH) is one of the main reasons for high mortality of the newborn and a factor that leads to respiratory and circulatory failure in newborns with CDH. PPHN secondary to CDH is severe and difficult to treat, with poor prognosis. Therefore, prenatal intervention aims for preventing the pathological process of CDH, especially the etiological treatment for impeding the development of PPHN, has become a research focus. Given unknown causes and poor outcomes of PPHN, this article summarizes the research advances in pathogenesis and treatment of PPHN secondary to CDH based on related studies so as to provide a reference for relevant studies and clinical treatment.
Hernias, Diaphragmatic, Congenital ; complications ; Humans ; Infant, Newborn ; Persistent Fetal Circulation Syndrome ; etiology ; therapy

We report a case of a full-term neonate with persistent pulmonary hypertension who developed asphyxia after birth and was treated with iloprost. The neonate had persistent hypoxia and did not respond to supportive treatment. Because inhaled nitric oxide (iNO) was not available in our hospital, inhaled iloprost was administered via an endotracheal tube. This resulted in an immediate elevation of oxygen saturation. Echocardiography revealed the conversion of the right-to-left ductal shunt to the left-to-right one and a decrease of the right ventricular pressure. The use of inhaled iloprost did not cause any significant side effects. Here, we describe our experience where iloprost was used in a neonate with persistent pulmonary hypertension because the standard therapy with inhaled nitric oxide was not available.
Anoxia ; Asphyxia ; Echocardiography ; Female ; Humans ; Hypertension, Pulmonary ; Iloprost ; Infant, Newborn ; Nitric Oxide ; Oxygen ; Parturition ; Persistent Fetal Circulation Syndrome ; Ventricular Pressure

Antioxidants ; therapeutic use ; Humans ; Infant, Newborn ; Oxygen Inhalation Therapy ; Persistent Fetal Circulation Syndrome ; drug therapy ; metabolism ; Reactive Oxygen Species ; metabolism

OBJECTIVE: To explore the diagnosis, treatment and genetic characteristics of a neonate with severe pulmonary hypertension and respiratory failure. METHODS: Perinatal history, clinical manifestations, laboratory finding and diagnosis and treatment data of the child were collected. Whole exome sequencing was carried out for the child, and Sanger sequencing was used to verify the candidate variants. RESULTS: The female neonate has developed progressive respiratory failure and refractory pulmonary hypertension shortly after birth. Conventional treatment such as mechanical ventilation, vasoactive drugs, and inhaled nitric oxide were ineffective. She has developed sustained pulmonary hypertension after weaning from extracorporeal membrane oxygenation therapy, and had died after the treatment had ceased. Whole exome sequencing revealed that she has harbored a heterozygous de novo variant of c.682_683insGCGGCGGC (p.G234Rfs*148) of the FOXF1 gene, which was predicted as pathogenic based on guidelines from the American College of Medical Genetics and Genomics (ACMG), with evidence items of PVS1_Strong+PM2_Supporting+PS2. Based on her clinical manifestations and result of genetic testing, the child was diagnosed with alveolar capillary dysplasia with misalignment of the pulmonary veins (ACD/MPV). CONCLUSION Discovery of the c.682_683insGCGGCGGC (p.G234 Rfs*148) variant of the FOXF1 gene has expanded the mutational spectrum of the FOXF1 gene, which has facilitated implementation of specific treatment and provided a basis for clinical diagnosis and genetic counseling.
Female ; Humans ; Child ; Infant, Newborn ; Pregnancy ; Persistent Fetal Circulation Syndrome/therapy* ; Hypertension, Pulmonary ; Pulmonary Veins ; Forkhead Transcription Factors/genetics*

OBJECTIVETo review the role of epigenetic regulation in neonatal diseases and better understand Barker's "fetal origins of adult disease hypothesis".

DATA SOURCESThe data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.

STUDY SELECTIONArticles associated with epigenetics and neonatal diseases were selected.

RESULTSThere is a wealth of epidemiological evidence that lower birth weight is strongly correlated with an increased risk of adult diseases, such as type 2 diabetes mellitus, hypertension, and cardiovascular disease. This phenomenon of fetal origins of adult disease is strongly associated with fetal insults to epigenetic modifications of genes. A potential role of epigenetic modifications in congenital disorders, transient neonatal diabetes mellitus (TNDM), intrauterine growth retardation (IUGR), and persistent pulmonary hypertension of the newborn (PPHN) have been studied.

CONCLUSIONSAcknowledgment of the role of these epigenetic modifications in neonatal diseases would be conducive to better understanding the pathogenesis of these diseases, and provide new insight for improved treatment and prevention of later adult diseases.

DNA Methylation ; Diabetes Mellitus ; genetics ; Epigenesis, Genetic ; Fetal Growth Retardation ; genetics ; Genomic Imprinting ; Histones ; metabolism ; Humans ; Infant, Newborn ; Infant, Newborn, Diseases ; genetics ; Persistent Fetal Circulation Syndrome ; genetics

Persistent pulmonary hypertension of the newborn infant (PPHN), is a clinical syndrome characterized by elevated pulmonary vascular resistance, resulting from reactive vasoconstriction or structural remodeling of the pulmonary vasculature. Although inhaled nitric oxide (iNO) has emerged as a novel selective treatment of PPHN, responses to iNO are variable according to the etiologies or the clinical situation. A retrospective chart review of 51 newborn infants with PPHN and treated with iNO, was undertaken to evaluate the factors affecting response to iNO. Response to iNO was defined as a reduction in the oxygenation index (OI) of more than 20%, or disappearance of the difference in oxygen saturation between preductal and postductal circulation after iNO therapy. The patients were divided into two groups; the responder group and the non- responder group. Respiratory distress syndrome (RDS) was more commonly associated with PPHN in the responder group than in the non-responder group (p < 0.05), while there were many more patients with congenital diaphragmatic hernia (CDH) in the non-responder group than in the responder group (p < 0.05). Infants with meconium aspiration syndrome (MAS) were similar in both of the two groups. Initial OI, initial mean airway pressure (MAP), and initial and peak NO concentration were significantly lower in the responder group compared to the non-responder group (p < 0.05). Rapid response (response to iNO within the first hour) was shown in 74% of the responder group and 33% of the nonresponder group (p < 0.05). There was no significant differences in the initial chest radiographic findings, such as normal, focal or bilateral diffuse infiltration, with the exception of CDH, between each group. Lower initial OI, lower initial MAP and significant response within the first hour were shown to be favourable factors in response to iNO therapy. Patients with RDS associated with PPHN responded much better to iNO than those with other diseases.
Administration, Inhalation ; Female ; Human ; Infant, Newborn ; Male ; Nitric Oxide/*administration & dosage ; Persistent Fetal Circulation Syndrome/*drug therapy/radiography ; Retrospective Studies ; Treatment Outcome ; Vascular Resistance/drug effects

Nitric oxide, an endothelium-derived relaxing factor, is a selective pulmonary vasodilator. We have built and settled down the delivery system of nitirc oxide gas inhalation for the first time in Korea. Two newborn babies delvelped near fatal pulmonary hypertension after surgical repair of a congenital diaphragmatic hernia. All conventional therapeutic measures failed. So we decided to attempt to use of nitric oxide gas for treatment. Addition of ntiric oxide of 1-80 parts per million to the inspired gas allowed resolution of pulmonary hypertension. No side effect of nitric oxide therapy was observed, and ventilatory support could be substantially reduced as a result of treatment and could be stopped later. On the basis of the striking and lifesaving effects of nitric oxide therapy shown in these cases, we believe that nitric oxide inhalation can be used as a major treatment modality in the management of persistent pulmonary hypertension of the newborn.
Endothelium-Dependent Relaxing Factors ; Female ; Hernia, Diaphragmatic* ; Humans ; Hypertension, Pulmonary* ; Infant, Newborn ; Inhalation* ; Korea ; Nitric Oxide* ; Persistent Fetal Circulation Syndrome ; Strikes, Employee