Prevalence of pulmonary hypertension among children with Down syndrome:A systematic review and meta-analysis

BACKGROUND Pulmonary hypertension(PH)has serious short-and long-term consequences.PH is gaining increasing importance in high risk groups such as Down syndrome(DS)as it influences their overall survival and prognosis.Hence,there is a dire need to collate the prevalence rates of PH in order to undertake definitive measures for early diagnosis and management.AIM To determine the prevalence of PH in children with DS.METHODS The authors individually conducted a search of electronic databases manually(Cochrane library,PubMed,EMBASE,Scopus,Web of Science).Data extraction and quality control were independently performed by two reviewers and a third reviewer resolved any conflicts of opinion.The words used in the literature search were“pulmonary hypertension”and“pulmonary arterial hypertension”;“Down syndrome”and“trisomy 21”and“prevalence”.The data were analyzed by Comprehensive Meta-Analysis Software Version 2.Risk of bias assessment and STROBE checklist were used for quality assessment.RESULTS Of 1578 articles identified,17 were selected for final analysis.The pooled prevalence of PH in these studies was 25.5%.Subgroup analysis was carried out for age,gender,region,year of publication,risk of bias and etiology of PH.CONCLUSION This review highlights the increasing prevalence of PH in children with DS.It is crucial for pediatricians to be aware of this morbid disease and channel their efforts towards earlier diagnosis and successful management.Community-based studies with a larger sample size of children with DS should be carried out to better characterize the epidemiology and underlying etiology of PH in DS.

Distinctive clinical features of spontaneous pneumoperitoneum in neonates: A retrospective analysis

BACKGROUND Spontaneous pneumoperitoneum(SP) without gastrointestinal perforation rarely occurs in neonates, with most SP cases being idiopathic. Although SP usually follows a benign clinical course with favorable prognosis, it can become lifethreatening in certain situations. In these cases, urgent surgical intervention may be required. Therefore, it may be difficult to decide when or how to perform prompt interventions.AIM To demonstrate the distinct clinical features of SP to guide appropriate management by comparing characteristics between SP and typical pneumoperitoneum secondary to gastrointestinal perforation.METHODS We retrospectively reviewed electronic medical records and identified 37 neonates with radiological evidence of pneumoperitoneum who were treated at our institution. Clinical variables were compared between neonates with SP without gastrointestinal perforation(Group A) and those with pneumoperitoneum secondary to gastrointestinal perforation(Group B). Clinical variables between groups were compared using Student’s t-test and the chi-square test. The risk factors related to mortality were examined using multi-logistic regression analysis.RESULTS Group A comprised 35.1%(13/37) of the patients. The frequency of persistent pulmonary hypertension(53.8%) and pneumothorax(46.2%) before the development of pneumoperitoneum was significantly higher in group A than in group B(P =0.004). Platelet count and partial pressure of arterial oxygen(PaO) were significantly lower in group A(P = 0.015 and 0.025, respectively). Overall mortality was significantly higher in group A than in group B(76.9% vs 16.7%, P = 0.001). Only preterm infants were significantly associated with high mortality(P = 0.041;odds ratio = 18.0). Accompaniment with persistent pulmonary hypertension and pneumothorax were also significantly high(P = 0.004) in group A, but these were not strongly associated with high mortality.CONCLUSION This study identified a higher mortality rate in patients with SP than that described in previous reports. Neonates with SP were more likely to have thrombocytopenia, pneumothorax, and persistent pulmonary hypertension. Prematurity was the most significant factor affecting mortality.

Important Newborn Cardiac Diagnostic Dilemmas for the Neonatologist and Cardiologist-A Clinical Perspective

Most congenital heart disease(CHD)is readily recognisable in the newborn.Forewarned by previous fetal scanning,the presence of a murmur,tachypnoea,cyanosis and/or differential pulses and saturations all point to a cardiac abnormality.Yet serious heart disease may be missed on a fetal scan.There may be no murmur or clinical cyanosis,and tachypneoa may be attributed to non-cardiac causes.Tachypnoea on day 1 is usually non-cardiac except arising from ventricular failure or a large systemic arteriovenous fistula.A patent ductus arteriosus(PDA)may support either pulmonary or systemic duct dependent circulations.The initially high pulmonary vascular resistance(PVR)limits shunts so that murmurs even from large communications between the systemic and pulmonary circulations take days/weeks to develop.At times despite expert input,serious CHD maybe difficult to diagnose and warrants close interaction between the neonatologist and cardiologist to reach a timely diagnosis.Such conditions include obstructed total anomalous pulmonary venous connections(TAPVC)and the need to distinguish it from persistent pulmonary hypertension in the newborn(PPHN)–the treatment of the former is surgical the latter medical.A large duct shunting right to left may overshadow a suspected hypoplastic aortic isthmus and/or coarctation.Is the right to left shunting because of severe aortic obstruction or resulting from a high PVR with little obstruction.The diagnosis of pulmonary vein stenosis(PVS)remains problematic often developing in premature infants with ongoing bronchopulmonary dysplasia(BPD),still being cared for by the neonatologist.While there are other diagnostic dilemmas including deciding the contribution of a recognised CHD in a sick neonate,this paper will focus on the above-mentioned conditions with suggestions on what may be done to arrive at a timely diagnosis to achieve optimal outcomes.

Epigenetics in neonatal diseases

Objective To review the role of epigenetic regulation in neonatal diseases and better understand Barker＇s ＂fetal origins of adult disease hypothesis＂.Data sources The data cited in this review were mainly obtained from the articles published in Medline/PubMed between January 1953 and December 2009.Study selection Articles associated with epigenetics and neonatal diseases were selected.Results There 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.Conclusions Acknowledgment 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.