Ascertaining the Prevalence of Heart Malformations in Neonates: A Novel Clinically Approved Solution

Background: It is vital to screen all critical congenital heart defects as early as possible. Screening for congenital heart diseases in neonates is essential for saving children's lives and reducing undetected adult congenital heart diseases. Unfortunately, over 50% of neonates with heart malformations are unrecognized at birth. Accurate screening for congenital heart malformations can be accomplished using the certified and internationally patented digital intelligent phonocardiography machine. The objective of this study is 2-fold: assess the actual prevalence of newborn heart defects in our well-baby nursery and evaluate the digital intelligent phonocardiogram screening for critical congenital heart diseases. Methods: In this study, we have accomplished "The Neonates Cardiac Monitoring Research Project" (ethics approval IR-IUMS-FMD. REC.1398.098) at Shahid Akbarabadi Maternity Hospital. Eight hundred forty neonates from our well-baby nursery have undergone both the standard clinical examinations at birth and the digital intelligent phonocardiogram examination in a double-blinded format. The median age of the neonates was 30,85 hours, and the median weight was 3.12 Kg. In addition, the pediatric cardiologist has performed echocardiography diagnosis for each neonate classified as abnormal either by the intelligent machine or by the standard medical examinations of a neonate. Detailed dataset of the eight hundred neonates’ examinations and printouts of the intelligent machine are available online.Results: We have found that the prevalence of heart malformations in our well-baby nursery is 5%. 44% of the heart malformations are unrecognized at birth through the standard medical examination of the hospital, including neonates with CCHD, Whereas the intelligent phonocardiogram has recognized 100% of neonates with heart malformations.Conclusions: We have accomplished screening for congenital heart malformations in all neonates accurately and cost-effectively in our hospital using the digital intelligent phonocardiogram. The intelligent machine has detected CCHD, where we have not detected it through the hospital's standard medical examinations, including pulse oximetry and the heart sound auscultation. In addition, the intelligent machine interprets innocent murmurs as healthy heart sounds.

Mutants of the Zebrafish K+ Channel Hcn2b Exhibit Epileptic-like Behaviors

Epilepsy is a chronic neurological disorder that affects 50 million people worldwide. The most common form of epilepsy is idiopathic, where most of the genetic defects of this type of epilepsy occur in ion channels. Hyperpolarization-activated cyclic nucleotide-gated (HCN) channels are activated by membrane hyperpolarization, and are mainly expressed in the heart and central and peripheral nervous systems. In humans, four HCN genes have been described, and emergent clinical data shows that dysfunctional HCN channels are involved in epilepsy. Danio rerio has become a versatile organism to model a wide variety of diseases. In this work, we used CRISPR/Cas9 to generate hcn2b mutants in zebrafish, and characterized them molecularly and behaviorally. We obtained an hcn2b mutant allele with an 89 bp deletion that produced a premature stop codon. The mutant exhibited a high mortality rate in its life span, probably due to its sudden death. We did not detect heart malformations or important heart rate alterations. Absence seizures and moderate seizures were observed in response to light. These seizures rarely caused instant death. The results show that mutations in the Hcn2b channel are involved in epilepsy and provide evidence of the advantages of zebrafish to further our understanding of the pathogenesis of epilepsy.

Surveillance of Fontan-associated liver disease: current standards and a proposal from the European Society of Paediatric Radiology Abdominal Task Force

Since Francis Fontan first introduced the eponymous technique, the Fontan procedure, this type of surgical palliation has allowed thousands of children affected by specific heart malformations to reach adulthood. Nevertheless, abdominal, thoracic, lymphatic and neurologic complications are the price that is paid by these patients. Our review focuses on Fontan-associated liver disease; the purpose is to summarize the current understanding of its physiopathology, the aim of follow-up and the specific radiologic follow-up performed in Europe. Finally, we as members of the Abdominal Task Force of the European Society of Paediatric Radiology propose a consensus-based imaging follow-up algorithm.

Ascertaining The Prevalence of Heart Malformations in Neonates: A Novel Clinically Approved Solution

Background: Screening of all congenital heart malformations (CHD & CCHD) , as early as possible, is essentials to save children’s lives and, vanishing undetected CHD before becoming adult congenital heart disease (ACHD). As it is known, over 50% of neonates with heart malformations are not recognized at birth. Accurate screening of congenital heart malformations can be accomplished by a certified and patented passive intelligent machine known as Pouya Heart. The objective of this study is 2-fold: to evaluate true prevalence of neonates heart malformations and to evaluate screening of critical congenital heart diseases (CCHD) by the intelligent machine.Methods: 840 neonates with a median age of 31.16 hours and a median weight of 3.11 Kg from the well-baby nursery have been screened by the passive intelligent machine. 20 seconds of heart sounds are recorded into the intelligent machine from two thoracic sites. Each neonate is then classified as normal or abnormal. Echocardiography diagnosis is carried out for verification of each abnormal case.Results: The prevalence of heart malformations (CHD & CCHD), in our well-baby nursery, is 5%. Where, 44% of the heart malformations have not been recognized at birth through the standard medical examination routine.Conclusions: Screening of congenital heart malformations, in all neonates, can be accomplished accurately and cost-effectively by using the Pouya Heart. It detects even CCHD in which it has not been detected through standard medical routine. The innocent murmurs are interpreted as healthy heart sounds.

The Potential of Prenatal Diagnosis in the Early Detection of Congenital Malformations

We present a unique association of fetal malformations very early diagnosed by ultrasoundexamination, at 14 weeks of gestation. A 28-year-old pregnant female, was addressed in a privatemedical center from Bucharest, Romania, for a routine ultrasound screening. A detailed ultrasoundevaluation of the fetus showed numerous and significant cephalic and heart malformations. Theultrasound examination of the fetal head suggest the diagnosis of fetal lobar hydrocephalus, and theultrasound examination of the fetal heart suggest the transposition of the great vessels. The parentswere informed about the severity of the fetal malformations and decided to terminate the pregnancydue to medical reasons. Anatomopathological examination confirmed the prenatal diagnosis. Firsttrimester ultrasonography was crucial in the early prenatal diagnosis and management of themalformed fetus with a unique association of fetal malformations.