Severe Cardiac Anomalies Research Articles

Compression brace for secondary pectus carinatum in infants and toddlers undergoing cardiac surgery with midline sternotomy

PurposesThis study aimed to retrospectively assess the response to a newly developed compression brace for improving the deformity of the secondary pectus carinatum in infants and toddlers undergoing cardiac surgery with midline sternotomy. Factors affecting the response to the brace were identified.MethodsFifty-one children were enrolled. Severity was expressed as the protrusion angle of the sternum obtained from chest X-ray. The patients were divided into two groups by positive or negative binary residuals of the relationship between the angle at the beginning and its percentage change after wearing the brace. Logistic regression analysis was used to identify the influencing factors.ResultsThirty patients (58.8%) showed zero and positive residuals to the relationship (good responders, Group G), whereas 21 patients showed negative residuals (poor responders, Group P). Male sex, severe cardiac anomaly, complex surgical procedure, multiple sternotomy, total duration, and self-discontinuation were associated with poor response to the brace by univariate analysis. The first three factors remained with high odds ratio for poor response by multivariate analysis. No adverse events occurred with the brace.ConclusionOur newly developed compression brace contributed, at least in part, to improve the deformity of the secondary pectus carinatum. Further studies are required to clarify the therapeutic efficacy of anterior chest compression for secondary pectus carinatum.

The impact of specialty training and physician attitudes on fetal cardiac counseling

Objective Fetal cardiac anomalies are the most commonly diagnosed structural anomalies. In these cases, Maternal-Fetal Medicine (MFM) specialists are tasked with counseling patients on a spectrum of diagnoses as well as their prognostic implications. A recent study of pediatric cardiologists demonstrated that personal beliefs regarding termination impact the counseling provided to patients. Our objective was to study whether the personal beliefs of MFMs impact counseling of patients with severe fetal cardiac anomalies and to compare these providers to their cardiology counterparts. Methods We conducted an anonymous cross-sectional survey of MFMs in New England that assessed personal beliefs and counseling practices when diagnosing hypoplastic left heart syndrome (HLHS). We subsequently compared these providers to the previously surveyed cardiologists. Results A total of 34 respondents representing a broad spectrum of age and experience across several states in New England were analyzed. When presented with the statement “some life is always better than no life at all,” 79% (n = 27) of respondents disagreed and all respondents (n = 34) offered termination, palliative care, and treatment options when counseling patients with HLHS. Additionally, while 74% (n = 25) of providers would personally support a decision to terminate a pregnancy with HLHS, 94% (n = 32) would professionally support the decision to pursue termination. MFMs and cardiologists differed in their responses to “some life is better than no life” and the belief that termination should be offered, though differences did not reach statistical significance. However, with respect to the providers’ personal and professional support of the decision to terminate the pregnancy, the groups of respondents varied significantly in their level of support, both professionally and personally with fewer cardiologists supporting this decision. Conclusion When diagnosing a severe and potentially fatal congenital cardiac anomaly, counseling by MFMs was largely unaffected by personal beliefs regarding termination of pregnancy. While this is consistent with previously published data on counseling practices among pediatric cardiology specialists, some important differences between the specialties were seen.

Treatment courses and outcomes of oesophageal atresia in patients with trisomy 18: a case series of 271 patients from a nationwide database in Japan

ObjectiveTo describe characteristics, treatments and clinical outcomes of patients with trisomy 18 and oesophageal atresia, using a nationwide database in Japan.DesignDescriptive study using a retrospective cohort.SettingA nationwide inpatient database including...

Abstract P3129: Strain-induced Cardiac Arrhythmias Caused By A Noonan Syndrome Mutation In Raf1 Can Be Suppressed By Modulation Of The Ras-mapk Pathway In Vitro

The gain of function mutation RAF1 S257L/+ , accounting for more than 50% of Noonan syndrome (NS) cases, results in a hyperactive RAS-MAPK pathway. Individuals suffer from myocardial dysfunction including electrophysiological abnormalities. Resulting arrhythmias may be potentially life-threatening, if sinus rhythm is not restored expeditiously. Intensive research has provided insights into structural anomalies. However, electrophysiological abnormalities contributing to arrhythmia initiation and maintenance in affected NS patients have not yet been investigated in-depth.To delineate the role of RAF1 S257L/+ in cardiac rhythm disturbance in vitro , we used cardiomyocytes differentiated from NS patient-derived (RAF1 S257L/+ ) and isogenic gene-corrected (RAF1 corr/+ ) iPS cells to generate 3D bioartificial cardiac tissues (BCTs). In a custom-made bioreactor system, we applied mechanical preload to BCTs to resemble an in vivo physiological stress condition. Here, in RAF1 S257L/+ BCTs, we observed a high susceptibility to arrhythmias compared to RAF1 corr/+ myocardium. This abnormality came alongside with a severely stiffened myocardium, and an impaired myocardial relaxation, pointing towards a diastolic disfunction. Electrophysiological analysis revealed a potentially arrhythmogenic shortening in action potential duration in RAF1 S257L/+ BCTs. Furthermore, the presence of spontaneous ectopic foci resulted in unstable excitation patterns. Long-term modulation of the hyperactive RAS-MAPK pathway by treatment with a MEK inhibitor, significantly reduced these arrhythmogenic parameters accompanied with a normalization of RAF1 S257L/+ BCT compliance, eventually stabilizing beating rhythm significantly.For the first time, our study provides an in-depth characterization of the RAF1 S257L/+ -associated arrhythmogenic phenotype in vitro . Shortened action potential durations, instable pace maker regions and a stiffened myocardium may contribute to the initiation and maintenance of severe cardiac rhythm anomalies. Moreover, we successfully rescued this distinct phenotype by pharmacological intervention. Our findings may have implications for future preventive treatment strategies for NS patients.

Current outcomes of infants with esophageal atresia and tracheoesophageal fistula: A multicenter analysis

ObjectiveThis study aims to quantify mortality rates and hospital lengths of stay (LOS) in neonates with esophageal atresia and tracheoesophageal fistula (EA/TEF), and to characterize the effects of birth weight (BW) and associated congenital anomalies upon these. MethodsData regarding patients with EA/TEF were prospectively collected (2013–2019) at 298 North American centers. The primary outcome was mortality and secondary outcome was LOS. Risk factors affecting mortality and LOS were assessed. ResultsEA/TEF was diagnosed in 3290 infants with a median BW of 2476 g (IQR 1897,2970). In-hospital mortality was 12.7%. Mortality was inversely correlated with BW. After adjustment, the risk of mortality decreased by approximately 11% with every 100 g increase in BW. A significant congenital anomaly other than EA/TEF was diagnosed in 37.9% of patients. Risk of mortality increased in patients with associated congenital anomalies, most notably in those with a severe cardiac anomaly. Lower BW was associated with an increased mean LOS among survivors. Similar to mortality risk, additional anomalies were associated with prolonged LOS. ConclusionsThis study demonstrates an in-hospital mortality of over 10%. Both increased mortality and prolonged LOS are highly associated with lower birth weight and the presence of concomitant congenital anomalies.

Analysis of outcomes in patients with abnormal laterality undergoing congenital heart surgery.

Laterality anomalies are almost always associated with severe cardiac anomalies. Demographic properties, type of the procedures, associated anomalies, and early and mid-term prognosis of four types of laterality anomalies were analysed. A total of 64 consecutive patients with laterality anomalies were enrolled between July 2014 and July 2020. We grouped the patients as situs solitus dextrocardia (SSD) (n = 12; 18.7%); situs inversus (SI) (n = 16; 25%); right atrial isomerism (RAI) (n = 29; 45.3%); and left atrial isomerism (LAI) (n = 7; 10.9%). TAPVC was only present in the RAI group (31%). Incidence of mitral or tricuspid atresia was higher in the SSD group (25%). All the patients were followed up with a mean of 19.06 ± 17.6 (0.1-72) months. Early postoperative mortality was 17 patients, among 107 procedures (15.8%). Twelve patients were in the neonatal period. All ten patients survived after isolated ductal stenting. Fourteen of the deaths were in the RAI group (48.3%). The 3-year survival rates were 85% in LAI, 78.7% in SI, 55.8% in SSD, and 38% in RAI groups. According to the multivariable Cox regression model, mechanical ventilation, kidney injury, RAI, and complex surgery in the neonatal period were independent risk factors for early mortality. Laterality anomalies are one of the most challenging patients who commonly had univentricular physiology. The most prevalent anomaly was RAI, and RAI had the worst outcome and survival. Ductal stent is an acceptable first intervention during the neonatal period in suitable patients. Complex procedures may carry a high risk of death in the neonatal period.

A retrospective comparative study to determine the factors leading to poor outcome in operated cases of esophageal atresia and trachea-esophageal fistula: An audit

Aim: To determine the different factors leading to poor outcome in operated case of esophageal atresia and trachea-esophageal fistula (EA-TEF). Material and Methods: This is a retrospective non-randomized comparative study. All the patient who presented with EA-TEF to us were included in the study. The patients who were not operated and patient who were discharged against the advice were excluded from the study. Patients were divided in to two groups. Group-A- Those who have survived after the surgery-39 and Group-B those who expired after the surgery-38. Various parameters were considered in relation to pre-operative, intra-operative and post-operative factors. To name few antenatal findings, maternal hemoglobin, gestational age, gap between both the end, duration of procedure, need for mechanical ventilation, early start of NG feed, need for blood products and postoperative complications. Results: Preoperative factor which had significant negative impact on survival were antenatally diagnosed polyhydramnios, maternal anemia, gestational age and associated severe cardiac anomalies. Mean operating time was more in group-B. Whenever surgeons or anaesthesiologists decided to continue postoperative ventilation the outcome was poor- 34 needed post-operative ventilation in group-B versus 12 in group A. Need for blood transfusion and need for platelets transfusion did not show significant difference among two groups but the need for plasma transfusion had poor survival. SIRS/sepsis played important determining factor in survival of EA-TEF. Patients who could be fed early, had better survival. Pneumothorax, pneumonia and leak didn’t show significant difference in survival. Conclusion: Different factors before, during and after the surgery have impact on outcome of EA-TEF. We should be able to formulate prognostic score which is based our local needs and available resources.

Role of Brahma-related gene 1 (Brg1) in heart disease

Role of Brahma-related gene 1 (Brg1) in heart disease

Congenital anomalies in children with postneonatally acquired cerebral palsy: an international data linkage study.

To describe the major congenital anomalies present in children with postneonatally acquired cerebral palsy (CP), and to compare clinical outcomes and cause of postneonatally acquired CP between children with and without anomalies. Data were linked between total population CP and congenital anomaly registers in five European and three Australian regions for children born 1991 to 2009 (n=468 children with postneonatally acquired CP; 255 males, 213 females). Data were pooled and children classified into mutually exclusive categories based on type of congenital anomaly. The proportion of children with congenital anomalies was calculated. Clinical outcomes and cause of postneonatally acquired CP were compared between children with and without anomalies. Major congenital anomalies were reported in 25.6% (95% confidence interval [CI] 21.7-29.9) of children with postneonatally acquired CP. Cardiac anomalies, often severe, were common and present in 14.5% of children with postneonatally acquired CP. Clinical outcomes were not more severe in children with congenital anomalies than those without anomalies. Cause of postneonatally acquired CP differed with the presence of congenital anomalies, with cerebrovascular accidents predominating in the anomaly group. Congenital anomalies were likely associated with cause of postneonatally acquired CP in 77% of children with anomalies. In this large, international study of children with postneonatally acquired CP, congenital anomalies (particularly cardiac anomalies) were common. Future research should determine specific causal pathways to postneonatally acquired CP that include congenital anomalies to identify opportunities for prevention. One-quarter of children with postneonatally acquired cerebral palsy (CP) have a major congenital anomaly. Cardiac anomalies, often severe, are the most common anomalies. Causes of postneonatally acquired CP differ between children with and without congenital anomalies.

Perioperative Management of Neonates Born to Mothers with COVID-19 Undergoing Urgent Cardiac Surgery

Neonates born to mothers with COVID-2019 are at high risk of SARS‐CoV‐2 infection, although the direct vertical transmission from mother to fetus have not been documented but the baby may be infected during breast feeding by airborne or droplet infection. The baby should be isolated from infected mother and from other neonates born to healthy mothers. Neonates born with critical and severe cardiac anomalies usually require lifesaving cardiac surgical intervention.

MP65-20 THE HYPOSPADIAS COMPLICATION RATE IN CHILDREN WITH SEVERE EXTRA-GENITAL ANOMALIES: ARE WE STAGING FOR A REASON?

You have accessJournal of UrologyPediatrics: Hypospadias and Penile Surgery (MP65)1 Apr 2020MP65-20 THE HYPOSPADIAS COMPLICATION RATE IN CHILDREN WITH SEVERE EXTRA-GENITAL ANOMALIES: ARE WE STAGING FOR A REASON? Sarah Holzman*, Carol Davis-Dao, Zayn Suhale, Amanda Macaraeg, Joshua Chamberlin, Kai-wen Chuang, Heidi Stephany, Elias Wehbi, and Antoine Khoury Sarah Holzman*Sarah Holzman* More articles by this author , Carol Davis-DaoCarol Davis-Dao More articles by this author , Zayn SuhaleZayn Suhale More articles by this author , Amanda MacaraegAmanda Macaraeg More articles by this author , Joshua ChamberlinJoshua Chamberlin More articles by this author , Kai-wen ChuangKai-wen Chuang More articles by this author , Heidi StephanyHeidi Stephany More articles by this author , Elias WehbiElias Wehbi More articles by this author , and Antoine KhouryAntoine Khoury More articles by this author View All Author Informationhttps://doi.org/10.1097/JU.0000000000000940.19AboutPDF ToolsAdd to favoritesDownload CitationsTrack CitationsPermissionsReprints ShareFacebookLinked InTwitterEmail Abstract INTRODUCTION AND OBJECTIVE: Patients with hypospadias may have extra-genital anomalies. The effect of these anomalies on surgical planning and complication rates are not well defined. We sought to review our experience with hypospadias and identify if patients with extra-genital anomalies had higher complication rates. METHODS: We reviewed a prospectively-managed hypospadias database for patients who underwent hypospadias repair at our institution from 2008-2019. We identified patients with complex genetic syndromes or severe neurologic, cardiac or gastrointestinal anomalies. Patients with prior hypospadias repair performed outside our institution were excluded. We evaluated hypospadias severity, type of repair and complications. Complications were stratified by severity ranging from simple complications to severe. Primary outcome was complication rate. Analyses were conducted using Chi-square and logistic regression. RESULTS: Our database included 733 patients including 26 patients with severe anomalies. Meatal location was recorded as distal, mid-shaft and proximal in 13, 6 and 11 patients with severe anomalies, respectively. Twelve children had severe cardiac anomalies including tetralogy of Fallot, transposition of the great arteries, atrial and ventral septal defects. Three children had VATER, 5 children had neurologic syndromes and 6 had chromosomal anomalies. Complication rate amongst children with extra-genital anomalies was 19% (5/26) compared to 15% (105/707) in children without anomalies but this was not significant (p=0.54). There was no difference in severe complications between the two groups. The rate of planned staged procedures was higher in children with extra-genital anomalies with 23% (6/26) staged procedures compared to 6% in children without these anomalies (39/666, p=0.0005). In regression analysis, staged procedures remained significant when adjusting for hypospadias location (OR= 3.5, 95% CI: 1.1-12, p=0.04). We did not find an association between severe extra-genital anomalies and complication rate adjusting for single or staged procedure and hypospadias location (OR= 0.88, 95% CI: 0.29-2.6, p=0.81). CONCLUSIONS: Children with severe extra-genital anomalies had a higher staged repair rate compared to their peers; however, their complication rate did not differ. Staged repair may have a protective effect against complications as these children are thought to have impaired wound healing. Given the rare nature of hypospadias with severe anomalies, further study is required to verify these findings. Source of Funding: none © 2020 by American Urological Association Education and Research, Inc.FiguresReferencesRelatedDetails Volume 203Issue Supplement 4April 2020Page: e981-e981 Advertisement Copyright & Permissions© 2020 by American Urological Association Education and Research, Inc.MetricsAuthor Information Sarah Holzman* More articles by this author Carol Davis-Dao More articles by this author Zayn Suhale More articles by this author Amanda Macaraeg More articles by this author Joshua Chamberlin More articles by this author Kai-wen Chuang More articles by this author Heidi Stephany More articles by this author Elias Wehbi More articles by this author Antoine Khoury More articles by this author Expand All Advertisement PDF downloadLoading ...

Long-term follow-up in surgical newborns: A single-institution experience

BackgroundTo assess the actual experiences of long-term follow-up and discuss ways to improve care during the period from childhood to adulthood in newborns who have undergone surgery. MethodsA total of 306 patients with congenital anomalies requiring newborn surgery who survived to discharge from 1994 to 2013 were eligible for inclusion. Survivors with severe chromosomal and cardiac anomalies were excluded. Patients with myelomenigocele, urogenital anomalies and miscellaneous diagnoses were also excluded. Patients with Hirschsprung’s disease were excluded since many of them underwent surgery after the neonatal period. Patients with hypertrophic pyloric stenosis were also excluded since their duration of follow-up was too short for this study. ResultsAccording to the follow-up status, survivors were categorized into 4 groups: under follow-up as an outpatient (UF, n = 67), moved (MV, n = 60), follow-up suspended by doctor (Sus, n = 87), and lost to follow-up (LF, n = 92). The incidence of active medical problems was high, and the duration of follow-up was significantly longer in the survivors with esophageal atresia, congenital diaphragmatic hernia and high-type anorectal malformations than in those with other anomalies. Survivors followed by pediatric surgeons alone, free from active medical problems or free from adverse events during the initial hospitalization were at risk of being LF. ConclusionsMore than 30% of the surgical newborn cases were LF. Disease-specific and standardized multidisciplinary follow-up programs that increase both children’s and parents’ satisfaction and compliance are needed. (230/250 words).

Hepatoblastoma associated with trisomy 18

Abstract There is currently no consensus regarding the treatment strategy for malignant tumors with trisomy 18 because of the high mortality rate of this genetic disorder. In this study, we reported five cases of hepatoblastoma associated with trisomy 18. With the exception of one patient with severe cardiac anomalies, the other four patients underwent hepatectomy, and two patients also underwent chemotherapy. There was no treatment-related deterioration of their general condition. Three of the four patients who underwent hepatectomy, including one with a high-risk hepatoblastoma, were still alive at a median follow-up of 43 months (range, 25–169 months) with no sign of recurrence. The combination of radical surgery and chemotherapy is a feasible and effective treatment for hepatoblastoma in carefully selected patients with trisomy 18. Risk adapted management might improve the prognosis and quality of life of these children, even in cases with high-risk hepatoblastoma.

Assessment of knowledge on pulse oximetry screening for critical congenital heart disease among nursing officers attached to postnatal units of a teaching hospital in Sri Lanka

Introduction: Critical congenital heart disease (CCHD) refers to any severe cardiac anomaly existing since birth and requiring surgical or catheter-based intervention during infancy Objective: To assess knowledge on pulse oximetry (POS) protocol and its interpretation among nursing officers attached to postnatal wards of Sri Jayewardenepura General Hospital. Method: A descriptive cross-sectional study was carried out to assess the nursing officers’ knowledge on POS. Data were collected from the nursing officers in the postnatal wards who had working experience of one month or more by using an interviewer administered questionnaire. According to the responses, results were graded as unacceptable, acceptable and satisfactory. Results: Fifty three female nurses working in the postnatal wards participated in the study. The average working experience was 72 months. The average score obtained was 6.4 (SD 1.63) out of a total of 9. Ninety one percent scored above 5, 98% knew the correct sites of saturation measurements, 91% were aware about the purpose of neonatal POS and 66% knew the optimal time of performing the test. Seventy percent knew the test is positive if the SpO2 difference between limbs is more than 3, but only 43% knew the test is positive if SpO2 is Conclusions: More than 90% of nursing officers had acceptable or satisfactory knowledge of POS. More than 90% knew the purpose of screening and the appropriate limbs to check saturations. Only 66% knew the optimal time to perform the study. Lag of knowledge was seen in interpretation of positive as well as inconclusive results. Sri Lanka Journal of Child Health , 2019; 48(2): 146-151

Therapeutic Hypothermia After Perinatal Asphyxia in Infants With Severe, Ductal-Dependent Congenital Heart Disease.

Patients with severe congenital heart disease and cardiac anomalies such as restrictive foramen ovale, intact atrial septum, or narrowing of ductus arteriosus are at risk for perinatal asphyxia, leading to hypoxic-ischemic encephalopathy. We hypothesize that therapeutic hypothermia can be applied to these patients and seek to investigate feasibility and safety of this method. A retrospective observational study. The Department of Neonatology of Charité, University Hospital, Berlin, Germany. Newborns with severe congenital heart disease and perinatal asphyxia were retrospectively analyzed over a 6-year period. Application of therapeutic hypothermia. Ten patients with perinatal asphyxia were enrolled in this study. All patients received low-dose prostaglandin E1 for ductal maintenance. Three patients without evidence for hypoxic-ischemic encephalopathy did not receive therapeutic hypothermia. One patient died at the age of 15 hours, and therapeutic hypothermia was discontinued after 19 hours in another patient with severe arterial hypotension. Adverse effects during hypothermia included respiratory insufficiency (100%), arterial hypotension (71%), the need for inotropic support (71%), and pulmonary hypertension (43%), the latter associated with prolonged postoperative inotropic support. No neurologic complications occurred before or after the surgery. Operative outcome of surviving patients was excellent. Early brain MRI scans were suggestive of good neurodevelopmental prognosis for most patients. Therapeutic hypothermia can be applied to patients with severe congenital heart disease and hypoxic-ischemic encephalopathy. Low-dose prostaglandin E1 infusions are safe for ductal maintenance during cooling, but cardiopulmonary adverse effects should be anticipated.

Clinical investigation of congenital heart defects in prenatal life: a retrospective study on 198 cases

Objective: The authors present a necropsy study of fetal congenital heart defects (CHD) collected retrospectively, to investigate the spectrum of CHD in prenatal life and the frequency of extracardiac malformations and the proportion of chromosome abnormalities among the fetuses. Materials and Methods: During a five-year period, necropsies were performed in 198 fetuses with congenital heart anomalies identified by prenatal ultrasound and for which prenatal cytogenetic analyses were performed on fetal cells obtained by amniocentesis and cordocentesis. Sequential segmental analysis was used to describe cardiac defects according to the prenatal ultrasound findings and postnatal necropsy results. The classification of these cases was referred to the grading suggested by Choi. Results: The 198 cases were divided into two groups: group 1 described fetuses with severe cardiac anomalies which contained 90 cases and group 2 described fetuses with complex cardiac anomalies which contained 108 cases. In the spectrum of heart malformations, complex cardiac anomalies comprised 54.5% of the malformations and severe cardiac anomalies comprised 45.5% in the present necropsy population. Extracardiac malformations accounted for 104 cases (52.5%), and chromosome abnormalities were diagnosed in 34 fetuses (17.2%). Conclusion: Fetal cardiac anomalies detected in the present study were more severe than those in previous cardiology surveys. The present data will provide an adequate basis for future genetic counseling and improvement of prenatal care for fetal congenital heart defects.

Development of myotendinous-like junctions that anchor cardiac valves requires fibromodulin and lumican.

There are many patients that exhibit connective tissue related cardiac malformations but do not have mutations in collagen genes. The Small Leucine Rich Proteoglycans (SLRP) fibromodulin (FMOD) and lumican (LUM) bind collagen and regulate fibril assembly in other biological contexts. FMOD deficient mice and double deficient FMOD; LUM mice exhibited anomalies in regions where cardiac valve tissue interdigitates with adjacent muscle for support. Ectopic connective and/or myocardial tissue(s) was associated with the more severe cardiac valve anomalies in FMOD; LUM deficient mice. At postnatal day 0 (P0) there was an increase in the mesenchymal cell number in the regions where valve cusps anchor in FMOD; LUM deficient mice compared to WT. The cardiac valve anomalies correlated with the highest levels of FMOD expression in the heart and also where myotendinous junctions (MTJ) components biglycan, collagen type I alpha 1, and collagen type VI, are also localized. The postnatal assembly of the collagen-rich ECM in regions where cardiac valves anchor, that we have designated 'myotendinous-like junctions' (MTLJ) requires the SLRPs FMOD and LUM. Moreover, FMOD and LUM may facilitate mesenchymal cell differentiation in late stages of cardiac valve development. Developmental Dynamics 245:1029-1042, 2016. © 2016 Wiley Periodicals, Inc.

Score for Neonatal Acute Physiology-II Predicts Outcome in Congenital Diaphragmatic Hernia Patients.

Accurate and validated predictors of outcome for infants with congenital diaphragmatic hernia are needed. Score for Neonatal Acute Physiology-II has been validated to predict mortality in newborns. We investigated whether Score for Neonatal Acute Physiology-II scores in congenital diaphragmatic hernia could predict mortality, need for extracorporeal membrane oxygenation (in patients born in a center with extracorporeal membrane oxygenation availability), and development of bronchopulmonary dysplasia (oxygen dependency beyond 28 d after birth) in survivors. Data were obtained from a prospective, multicenter randomized controlled trial of initial ventilation strategy carried out by the Congenital Diaphragmatic Hernia EURO Consortium (NTR 1310). ICUs of level III university children's hospitals. Congenital diaphragmatic hernia infants without severe chromosomal anomalies or severe cardiac anomalies born between November 2008 and December 2013. Randomization for initial ventilation strategy (high-frequency oscillation/ conventional mechanical ventilation. Logistic regression analyses were used to evaluate associations between Score for Neonatal Acute Physiology-II and outcome parameters. Of the 171 included patients, 46 died (26.9%), 40 of 108 (37.0%) underwent extracorporeal membrane oxygenation, and 39 of 125 survivors (31.2%) developed bronchopulmonary dysplasia. In nonsurvivors, the median Score for Neonatal Acute Physiology-II was 42.5 (interquartile range, 33.5-53.8) and 16.5 (interquartile range, 9.0-27.5) in survivors (p < 0.001). Score for Neonatal Acute Physiology-II also significantly differed between extracorporeal membrane oxygenation and non-extracorporeal membrane oxygenation-treated patients (p < 0.001), and survivors with and without bronchopulmonary dysplasia (p < 0.001). Multivariable logistic regression analyses adjusted for hernia side, liver position, ventilation mode, gestational age, center and observed-to-expected lung-to-head-ratio showed that Score for Neonatal Acute Physiology-II was associated with mortality (odds ratio, 1.16 [1.09-1.23]; p < 0.001) and need for extracorporeal membrane oxygenation support (odds ratio, 1.07 [1.02-1.13]; p = 0.01), but not for the development of bronchopulmonary dysplasia (odds ratio, 1.04 [0.99-1.09]; p = 0.14). The Score for Neonatal Acute Physiology-II predicts not only mortality but also need for extracorporeal membrane oxygenation in congenital diaphragmatic hernia patients. We, therefore, recommend to implement this simple and rapid scoring system in the evaluation of severity of illness in patients with congenital diaphragmatic hernia and thereby have insight into the prognosis within 1 day after birth.

Expanding the Phenotype Associated with NAA10-Related N-Terminal Acetylation Deficiency.

ABSTRACTN‐terminal acetylation is a common protein modification in eukaryotes associated with numerous cellular processes. Inherited mutations in NAA10, encoding the catalytic subunit of the major N‐terminal acetylation complex NatA have been associated with diverse, syndromic X‐linked recessive disorders, whereas de novo missense mutations have been reported in one male and one female individual with severe intellectual disability but otherwise unspecific phenotypes. Thus, the full genetic and clinical spectrum of NAA10 deficiency is yet to be delineated. We identified three different novel and one known missense mutation in NAA10, de novo in 11 females, and due to maternal germ line mosaicism in another girl and her more severely affected and deceased brother. In vitro enzymatic assays for the novel, recurrent mutations p.(Arg83Cys) and p.(Phe128Leu) revealed reduced catalytic activity. X‐inactivation was random in five females. The core phenotype of X‐linked NAA10‐related N‐terminal‐acetyltransferase deficiency in both males and females includes developmental delay, severe intellectual disability, postnatal growth failure with severe microcephaly, and skeletal or cardiac anomalies. Genotype–phenotype correlations within and between both genders are complex and may include various factors such as location and nature of mutations, enzymatic stability and activity, and X‐inactivation in females.

Incidence of antenatal moderate and severe congenital cardiac anomalies in Cairo (a multi-center retrospective study).

To determine the prenatal incidence of moderate and severe cardiac anomalies and determine the prenatal pattern of CHD. Multi-center retrospective observational study. Cairo, Al-Azhar and 6th October Universities. 5499 pregnant women in the second and third trimester attending the fetal medicine unit in the three universities from January 2012 to June 2013 for anomaly scan were retrospectively reviewed. One hundred and five cases were diagnosed as severe and moderate CHD with a incidence of 1.9%. Severe forms were approximately ten folds higher than moderate forms. The commonest lesions in order of frequency were VSD (34.3%), HLHS (21.9%) and AVSD (20%). Cases having associated anomalies were 56.2% of affected cases and those with ultrasound markers of chromosomal anomalies were 34.3%. Prenatal pattern of CHD differs from its postnatal pattern with dominance of severe forms. Prenatally diagnosed cases have poorer prognosis than those diagnosed postnatal with high associations with other anomalies especially chromosomal defects.