Arterial-level repair of transposition of great arteries without coronary artery transfer.

Hypoplastic ascending aorta and interrupted aortic arch (IAA) are rarely associated with dextro-transposition of the great arteries (D-TGA). Severe hypoplastic ascending aorta may preclude coronary artery transfer making arterial switch operation problematic. We report a case of D-TGA with a large subpulmonic ventricular septal defect, IAA, and hypoplastic ascending aorta that underwent successful biventricular surgical repair without coronary artery transfer.

Transcatheter Closure of Perimembranous Ventricular Septal Defects Using Different Generations of Amplatzer Devices: Multicenter Experience.

Objectives: To demonstrate safety and efficacy of using different generations of softer Amplatzer™ devices for ventricular septal defect (VSD) closure to avoid serious complications at follow-up.

Background: Transcatheter closure of perimembranous ventricular septal defects (PmVSD) is a well-established procedure; however, it is associated with unacceptable incidence of complete heart block. Great advantages have been achieved by using softer devices for VSD transcatheter closure.

Thoracoscopic versus conventional open repair of tracheoesophageal fistula in neonates: A short-term comparative study.

Purpose: Esophageal atresia with or without a tracheo-esophageal fistula is a challenging anomaly in neonates. Thoracoscopic repair is gaining popularity now in pediatric surgery community. The present study aims at comparing the short term outcomes of thoracoscopy versus classic thoracotomy for repair of such conditions.

Homozygous Missense Variants in NTNG2, Encoding a Presynaptic Netrin-G2 Adhesion Protein, Lead to a Distinct Neurodevelopmental Disorder.

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from seven unrelated families) with ultra-rare homozygous missense variants in NTNG2; these individuals present with shared features of a neurodevelopmental disorder consisting of global developmental delay, severe to profound intellectual disability, muscle weakness and abnormal tone, autistic features, behavioral abnormalities, and variable dysmorphisms. The variants disrupt highly conserved residues across the protein.

Genetic, clinical and biochemical characterization of a large cohort of patients with hyaline fibromatosis syndrome.

Background: Hyaline fibromatosis syndrome (HFS) is a rare clinical condition in which bi-allelic variants in ANTXR2 are associated with extracellular hyaline deposits. It manifests as multiple skin nodules, patchy hyperpigmentation, joint contractures and severe pain with movement. HFS shows some clinical overlap to Farber disease (FD), a recessive lysosomal storage disorder.

Diagnostic Performance Analysis of the Point-of-Care Bilistick System in Identifying Severe Neonatal Hyperbilirubinemia by a Multi-Country Approach.

Importance: The real prevalence and clinical burden of severe neonatal jaundice are undefined due to difficulties in measuring total serum bilirubin (TSB) outside secondary and tertiary clinical centers.

Objective: To assess the diagnostic performance of the point-of care Bilistick System (BS) in identifying neonatal jaundice patients requiring treatment.

Design: Between April 2015 and November 2016, 1911 neonates, were recruited to participate in the study.

The overlooked left ventricle in persistent pulmonary hypertension of the newborn.

Persistent pulmonary hypertension of the newborn (PPHN) is a rapidly increasing condition among neonates. It represents failure of adaptation of pulmonary circulation to the extrauterine environment causing severe hypoxemia in affected newborns. Few data have weighed the relationship of ventricular dysfunction in the context of PPHN and the outcome in involved patients.

ASD device closure in pediatrics: 3-Dimensional transthoracic echocardiography perspective.

Objective: Real-time three-dimensional echocardiography, using both reconstruction methods and RT3D, has been used as an extra helping tool in several forms of congenital heart diseases. Our aim was to understand the relation of the ASD device to all surrounding structures by 3-dimensional echocardiography (3D).

Methods: This prospective study included 37 patients diagnosed as ASD secundum by transthoracic (TTE) and transesophageal echocardiography (TEE) referred for transcatheter closure from October 2013 to July 2016.

Neonatal RBC transfusions: Do benefits outweigh risks?

Preterm neonates represent one of the most transfused categories of patients. Their target hematocrits, however, are mainly based on expert opinion. The risk of transfusions are very high in the smallest preterm baby with a weak immune response, immature antioxidant ability, fragile germinal matrix and impaired cerebral autoregulation, yet red cell transfusions remain the only life saving measure in the baby with symptomatic anemia.

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants in KIF14 were detected; two loss-of-function (p.

Mitochondrial Diseases as Model of Neurodegeneration.

"Mitochondria" partially autonomous sophisticated cellular organelle involved in a wide range of crucial cellular functions, well known as the power house of the cell where ATP (adenosine triphosphate) production takes place, that is the cellular source of energy.Mitochondria has its own genome, however proper functioning of the mitochondria is dependent upon the coordinated expression of both nuclear and mitochondrial encoded gene products. Peculiar maternal inheritance of mitochondrial DNA has led the scientists to think about mitochondrial donation as a solution to maternally inherited mitochondriopathy "Three parent baby", raising many ethical and scientific issues, concerns about safety of the procedure, long term outcome and effect of genetic modification are still questionable.

Comparison between Bilistick System and transcutaneous bilirubin in assessing total bilirubin serum concentration in jaundiced newborns.

Objective: To compare the performance and accuracy of the JM-103 transcutaneous bilirubinometer and Bilistick System in measuring total serum bilirubin for the early identification of neonatal hyperbilirubinemia.

Study Design: The study was performed on 126 consecutive term and near-term (⩾36 weeks' gestational age) jaundiced newborns in Cairo University Children Hospital NICU, Egypt. Total serum bilirubin was assayed concurrently by the clinical laboratory and Bilistick System and estimated using the JM-103 transcutaneous bilirubin instrument.

Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.

Mutations in SCN2A, a gene encoding the voltage-gated sodium channel Nav1.2, have been associated with a spectrum of epilepsies and neurodevelopmental disorders. Here, we report the phenotypes of 71 patients and review 130 previously reported patients.

Perimembranous Ventricular Septal Defect Device Closure: Choosing Between Amplatzer Duct Occluder I and II.

Transcatheter closure of perimembranous ventricular septal defects (pmVSDs) is a well-established procedure. Recently, Amplatzer duct occluders (ADO) I and II have been reported to close large series of pmVSDs successfully (off-label use). ADOs are economical compared with the standard Amplatzer VSD occluders, a major consideration in developing countries with low-budget programs.

Diagnosis of celiac disease and applicability of ESPGHAN guidelines in Mediterranean countries: a real life prospective study.

Background: We assessed how the diagnosis of Celiac Disease (CD) is made and how the new ESPGHAN guidelines can be applied in children from countries with different resources.

Methods: A real life prospective study was performed in 14 centres of 13 different Mediterranean countries. Participants were asked to apply the usual diagnostic work-up for CD according to their diagnostic facilities.

Echocardiographic changes and growth retardation in a group of Egyptian children with rheumatic heart disease.

Background: Advances in echocardiographic studies have identified a massive burden of rheumatic heart disease (RHD) which continues to be a major health hazard in most developing countries. The aim of this study was to investigate the correlation between cardiac affection as regards the presence of single or multiple valvular lesions, and their severity and the growth parameters in a group of Egyptian children with RHD.

Methods: This study is a cross-sectional study, that was conducted on 200 children with RHD and 400 age-matched healthy.

Seven key actions to eradicate rheumatic heart disease in Africa: the Addis Ababa communiqué.

Acute rheumatic fever (ARF) and rheumatic heart disease (RHD) remain major causes of heart failure, stroke and death among African women and children, despite being preventable and imminently treatable. From 21 to 22 February 2015, the Social Cluster of the Africa Union Commission (AUC) hosted a consultation with RHD experts convened by the Pan-African Society of Cardiology (PASCAR) in Addis Ababa, Ethiopia, to develop a 'roadmap' of key actions that need to be taken by governments to eliminate ARF and eradicate RHD in Africa. Seven priority areas for action were adopted: (1) create prospective disease registers at sentinel sites in affected countries to measure disease burden and track progress towards the reduction of mortality by 25% by the year 2025, (2) ensure an adequate supply of high-quality benzathine penicillin for the primary and secondary prevention of ARF/RHD, (3) improve access to reproductive health services for women with RHD and other non-communicable diseases (NCD), (4) decentralise technical expertise and technology for diagnosing and managing ARF and RHD (including ultrasound of the heart), (5) establish national and regional centres of excellence for essential cardiac surgery for the treatment of affected patients and training of cardiovascular practitioners of the future, (6) initiate national multi-sectoral RHD programmes within NCD control programmes of affected countries, and (7) foster international partnerships with multinational organisations for resource mobilisation, monitoring and evaluation of the programme to end RHD in Africa.

Diagnosis and treatment of late-onset Pompe disease in the Middle East and North Africa region: consensus recommendations from an expert group.

Background: Pompe disease is a rare autosomal recessive disorder caused by a deficiency of the lysosomal enzyme alpha-glucosidase responsible for degrading glycogen. Late-onset Pompe disease has a complex multisystem phenotype characterized by a range of symptoms.

Methods: An expert panel from the Middle East and North Africa (MENA) region met to create consensus-based guidelines for the diagnosis and treatment of late-onset Pompe disease for the MENA region, where the relative prevalence of Pompe disease is thought to be high but there is a lack of awareness and diagnostic facilities.

Ocular manifestations in egyptian children and young adults with sickle cell disease.

In sickle cell disease (SCD), ocular lesions result from stasis and occlusion of small eye vessels by sickled erythrocytes. Vaso-occlusive disease of the retina can be responsible for nonproliferative (NPR) and proliferative retinopathy (PR). Patients are often asymptomatic until serious complications arise as, vitreous hemorrhage and retinal detachment.

Early detection of right ventricular diastolic dysfunction by pulsed tissue Doppler echocardiography in iron loaded beta thalassemia patients.

Early heart iron overload in beta thalassemia major patients can be quantified through T2* cardiovascular magnetic resonance (CMR). To clarify the value of tissue Doppler imaging (TDI) in early detection of myocardial dysfunction in iron loaded thalassemia patients diagnosed by CMR. Two groups were included in the study; Group I: 69 asymptomatic thalassemia patients (28 females, 41 males), mean age 18.

Selective screening for inborn errors of metabolism by tandem mass spectrometry in Egyptian children: a 5 year report.

Objective: In order to enhance awareness and promote registry for inborn errors of metabolism (IEMs) in Egypt, we aimed to evaluate the prevalence and main clinical findings of IEMs detectable by tandem mass spectrometry (MS/MS) among high risk pediatric patients presenting to our tertiary care facility at Cairo University Children's Hospital over a period of 5 years and to compare the disease burden in Egypt in the absence of a national screening program for inherited metabolic disorders with other populations.

Methods: During this period 3380 Egyptian children were suspected of having IEMs based on clinical/laboratory presentation and were analyzed by MS/MS. Confirmatory testing was performed according to flagged analyte by MS/MS using a different sample type such as plasma or urine or by a different technique such as GC/MS.

Clinical, neuroimaging, and genetic characteristics of megalencephalic leukoencephalopathy with subcortical cysts in Egyptian patients.

Background: Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a rare and genetically heterogeneous cerebral white matter disease. Clinically, it is characterized by macrocephaly, developmental delay, and seizures. We explore the clinical spectrum, neuroimaging characteristics, and gene involvement in the first patients with megalencephalic leukoencephalopathy with subcortical cysts described from Egypt.

Improvement of cardiac function in thalassemia major treated with L-carnitine.

Introduction: Heart disease secondary to chronic anemia and hemosiderosis remains the major cause of morbidity and mortality in thalassemic patients. Chronic anemia and the tissue hypoxia it induces impair free fatty acid oxidation and ATP production in myocardial cells. The use of L-carnitine, a butyric acid derivative, may help overcome some of these defects.