Hyaline Membrane Disease

IntroductionNeonatal respiratory distress (NRD) is a main cause of neonatal morbidity and mortality in developing countries. Early detection of its risk factors and early treatment of its etiologies are major challenges. However, few studies in developing countries have provided data needed to tackle it. We aimed to determine the prevalence, predictors, etiologies and outcome of NRD in a tertiary health care centre of Cameroon.MethodsWe analyzed the hospital files of all newborns admitted to the Neonatal unit of Douala General Hospital from 1(st) January 2011 to 28(th) February 2013. NRD was diagnosed based on the presence of one or more of the following signs: an abnormal respiratory rate, expiratory grunting, nasal flaring, chest wall recessions and thoraco-abdominal asynchrony with or without cyanosis, in their files. Socio-demographic and clinical variables of newborns and their mothers were analyzed using logistic regression analysis.ResultsThe prevalence of NRD was 47.5% out of the 703 newborns studied. Acute fetal distress, elective caesarean delivery, APGAR score ConclusionNRD is a frequent emergency and causes high morbidity and mortality. Most of its risk factors and etiologies are preventable. Adequate follow-up of pregnancy and labor for timely intervention may improve the neonatal outcomes.

BackgroundRespiratory diseases in newborns are considered major causes of neonatal morbidity and mortality especially in developing countries. Its causes are diverse and require early detection and management. This study aimed for detection of the prevalence and risk factors of respiratory diseases in addition to outcome among neonates admitted in neonatal intensive care unit.MethodsOur study was a prospective observational study that was undertaken at the neonatal intensive care unit of Qena University Hospital, Egypt from July 2017 to July 2018. Demographic and clinical data of newborns and their mothers were evaluated and tabulated.ResultsIn this period, 312 neonates were admitted to the neonatal intensive care unit, out of them 145 suffered respiratory diseases giving a prevalence of (46.5%), and (55.9%) were males. The mean neonatal age at admission was 4.33 ± 7.19 days and mean gestational age was 34.49 ± 3.31 weeks. The most common detected respiratory diseases were respiratory distress syndrome (RDS; 49.6%), transient tachypnea of newborn (TTN; 22%), neonatal pneumonia (17.2%) and meconium aspiration syndrome (MAS; 6.21%). Premature rupture of membrane (PROM), maternal diabetes and fetal prematurity had the highest risk factors for respiratory diseases occurrence in neonates. Neonatal mortality rate was 26.2%, mainly due to hyaline membrane disease and pneumonia.ConclusionRespiratory diseases constitute major part of total admission in neonatal intensive care unit especially RDS, TTN, pneumonia and MAS. Prematurity and maternal diabetes were the most important risk factors associated with respiratory diseases. Respiratory distress syndrome carried the highest risk of mortality and TTN carried the highest survival rate.

BackgroundIn neonatology the role of chest physiotherapy is still uncertain because of the controversial outcomes.MethodsThe aim of this study was to test the applicability in preterm infants of 'reflex rolling', from the Vojta method, in preterm neonates with lung pathology, with particular attention to the effects on blood gases and oxygen saturation, on the spontaneous breathing, on the onset of stress or pain. The study included 34 preterm newborns with mean gestational age of 30.5 (1.6) weeks - mean (DS) - and birth weight of 1430 (423) g - mean (DS) -, who suffered from hyaline membrane disease, under treatment with nasal CPAP (continuous positive airways pressure), or from pneumonia, under treatment with oxygen-therapy. The neonates underwent phase 1 of 'reflex rolling' according to Vojta method three times daily. Respiratory rate, SatO2, transcutaneous PtcCO2 e PtcO2 were monitored; in order to evaluate the onset of stress or pain following the stimulations, the NIPS score and the PIPP score were recorded; cerebral ultrasound scans were performed on postnatal days 1-3-5-7, and then weekly.ResultsIn this population the first phase of Vojta's 'reflex rolling' caused an increase of PtcO2 and SatO2 values. No negative effects on PtcCO2 and respiratory rate were observed, NIPS and PIPP stress scores remained unmodified during the treatment; in no patient the intraventricular haemorrhage worsened in time and none of the infants developed periventricular leucomalacia.ConclusionsOur experience, using the Vojta method, allows to affirm that this method is safe for preterm neonates, but further investigations are necessary to confirm its positive effects and to evaluate long-term respiratory outcomes.

The significant variability in the clinical manifestations of COL2A1-associated skeletal dysplasias makes it necessary to conduct a clinical and genetic analysis of individual nosological variants, which will contribute to improving our understanding of the pathogenetic mechanisms and prognosis. We presented the clinical and genetic characteristics of 60 Russian pediatric patients with type II collagenopathies caused by previously described and newly identified variants in the COL2A1 gene. Diagnosis confirmation was carried out by new generation sequencing of the target panel with subsequent validation of the identified variants using automated Sanger sequencing. It has been shown that clinical forms of spondyloepiphyseal dysplasias predominate in childhood, both with more severe clinical manifestations (58%) and with unusual phenotypes of mild forms with normal growth (25%). However, Stickler syndrome, type I was less common (17%). In the COL2A1 gene, 28 novel variants were identified, and a total of 63% of the variants were found in the triple helix region resulted in glycine substitution in Gly-XY repeats, which were identified in patients with clinical manifestations of congenital spondyloepiphyseal dysplasia with varying severity, and were not found in Stickler syndrome, type I and Kniest dysplasia. In the C-propeptide region, five novel variants leading to the development of unusual phenotypes of spondyloepiphyseal dysplasia have been identified.