Advocacy at the Eighth World Congress of Pediatric Cardiology and Cardiac Surgery.

The (WCPCCS) will be held in Washington DC, USA, from Saturday, 26 August, 2023 to Friday, 1 September, 2023, inclusive. The will be the largest and most comprehensive scientific meeting dedicated to paediatric and congenital cardiac care ever held. At the time of the writing of this manuscript, has 5,037 registered attendees (and rising) from 117 countries, a truly diverse and international faculty of over 925 individuals from 89 countries, over 2,000 individual abstracts and poster presenters from 101 countries, and a Best Abstract Competition featuring 153 oral abstracts from 34 countries.

Co-creating a local environmental epidemiology study: the case of citizen science for investigating air pollution and related health risks in Barcelona, Spain.

Background: While the health risks of air pollution attract considerable attention, both scholarly and within the general population, citizens are rarely involved in environmental health research, beyond participating as data subjects. Co-created citizen science is an approach that fosters collaboration between scientists and lay people to engage the latter in all phases of research. Currently, this approach is rare in environmental epidemiology and when co-creation processes do take place, they are often not documented.

Tetralogy of Fallot Repair in Developing Countries: International Quality Improvement Collaborative.

Background: Isolated reports from low- and middle-income countries (LMICs) for surgical results in tetralogy of Fallot (TOF) are available. The International Quality Improvement Collaborative for Congenital Heart Disease (IQIC) seeks to improve surgical results promoting reductions in infection and mortality in LMICs.

Methods: All cases of TOF in the IQIC database performed between 2010 and 2014 at 32 centers in 20 LMICs were included.

Morbidity in congenital heart surgery in a public hospital in Argentina.

Objective: To describe the complications associated with heart surgery, compare them to a reference population, and identify mortality risk factors.

Patients And Methods: Retrospective and descriptive study. All patients who underwent surgery at Hospital Garrahan in the 2013-2015 period were included.

Global perspective on training and staffing for paediatric cardiac critical care.

This manuscript provides a global perspective on physician and nursing education and training in paediatric cardiac critical care, including available resources and delivery of care models with representatives from several regions of the world including Africa, Israel, Asia, Australasia, Europe, South America, and the United States of America.

[Mechanical circulatory support in pediatrics. Experience at the Dr. Juan P. Garrahan Pediatric Hospital. Argentina].

Introduction: Mechanical circulatory support provides oxygen to the tissues in patients with cardiac and/or respiratory reversible disease refractory to conventional treatments.

Objective: The aim of this study is to show our initial results of mechanical circulatory support in children with heart disease.

Method: Retrospective cohort between March 2006 and March 2012.

Regional venous oxygen saturation versus mixed venous saturation after paediatric cardiac surgery.

Background: Central venous oxygen saturation (ScvO2) remains the gold standard surrogate for tissue oxygen extraction in paediatric cardiac surgery. Near-infrared spectroscopy (NIRS) has been developed as a non-invasive diagnostic tool for regional oxygen saturation. The aim was to compare regional oxygen saturation measured by NIRS with ScvO2 in postoperative paediatric cardiac patients.

[Congenital heart disease: surgical results in a public hospital in Argentina].

Objective: To describe the results of congenital heart surgery at the Hospital de Pediatría J. P.Garrahan.

[Functional univentricular heart: immediate and long term results, in the different stages of sequential correction].

Introduction: The functionally univentricular heart represents an heterogeneous group of anomalies that have in common the feature that only one of the chambers within the ventricular mass is capable of supporting independently either the pulmonary or systemic circulation.

Objective: Evaluation from the neonatal period of the immediate and long term surgical results of the sequential total cavo-pulmonary connection in the various anatomical forms of the functional univentricular hearts.

Methods: From May 1998 to May 2009, 84 patients have been followed since the neonatal period and in a prospective retro-prospective way (bidirectional), in which 181 sequential surgical procedures were performed in three stages: Neonatal, Bidirectional Glenn and Total cava pulmonary connection.

[Cardiac surgical repair in newborns: five years' experience in neonatal open surgery].

Introduction: Four hundred newborns die every year in our country suffering from congenital heart disease. Definitive surgical repair, whenever possible, is nowadays the optimal therapeutic strategy. Our goal is to describe mortality and morbidity in neonatal surgery with cardiopulmonary bypass in a tertiary public hospital in Argentina.

[Levosimendan, a new inotropic drug: experience in children with acute heart failure].

Introduction: Low cardiac output syndrome occurs frequently in pediatric patients after cardiac surgery. Catecholamines are used as inotropic drugs to treat this threatening condition, but may cause undesirable and potentially harmful side effects. This study was performed to evaluate the efficacy and safety of levosimendan (LEVO) in pediatric patients with low cardiac output syndrome.

Novel mutations in the CDKL5 gene, predicted effects and associated phenotypes.

It has been found that CDKL5 gene mutations are responsible for early-onset epilepsy and drug resistance. We screened a population of 92 patients with classic/atypical Rett syndrome, 17 Angelman/Angelman-like patients and six idiopathic autistic patients for CDKL5 mutations and exon deletions and identified seven novel mutations: six in the Rett subset and one in an Angelman patient. This last, an insertion in exon 11, c.

A case of pediatric tumefactive demyelinating lesion misdiagnosed and treated as glioblastoma.

Because of their clinical and neuroradiological features, tumefactive demyelinating lesions, or giant plaques, are easily mistaken for tumors, with a consequent risk of gross errors in the choice of treatment. This article reports a 10-year-old girl who underwent surgery for a left parietal lesion misinterpreted as a glioblastoma which subsequently proved to be a case of giant plaque.

Salvage treatment for childhood ependymoma after surgery only: Pitfalls of omitting "at once" adjuvant treatment.

Purpose: To discuss the results obtained by giving adjuvant treatment for childhood ependymoma (EPD) at relapse after complete surgery only.

Methods And Materials: Between 1993 and 2002, 63 children older than 3 years old entered the first Italian Association for Pediatric Hematology and Oncology protocol for EPD (group A), and another 14 patients were referred after relapsing after more tumor excisions only (group B). Prognostic factors were homogeneously matched in the two groups.

Transitory, spontaneously recovering, peripheral facial nerve palsy after vinorelbine administration.

Childhood intrinsic brain-stem gliomas have a dismal prognosis. Different treatment strategies have been adopted over the years without changing the final outcome of this ominous disease. Due to this grim prognosis, experimental therapeutic designs are worthwhile.

GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy.

Background: Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease (PMD), PMLD is characterized clinically by nystagmus, cerebellar ataxia, and spasticity, due to a permanent lack of myelin deposition in the brain. Mutations in the GJA12 gene, encoding connexin 47 (Cx47), were recently reported in five children with autosomal recessive PMLD.

CXCL12 expression is predictive of a shorter time to tumor progression in low-grade glioma: a single-institution study in 50 patients.

The clinical course of 50 patients with low-grade glioma (31 male, 19 female) undergoing surgery at a single Institution from 1992 to 1996 was analyzed in relationship with known prognostic factors as far as time to tumor progression (TTP) and survival time (ST) are concerned. Moreover, microvessel density (MVD) and expression of the angiogenesis-related chemokine CXCL12 were investigated in surgical specimens. Age at diagnosis ranged from 1 to 68 years (median 30).

High response rate to cisplatin/etoposide regimen in childhood low-grade glioma.

Purpose: The aim of this study was to avoid radiotherapy and to induce an objective response in children with low-grade glioma (LGG) using a simple chemotherapy regimen based on cisplatin and etoposide.

Patients And Methods: Thirty-four children (median age, 45 months) with unresectable LGG were treated with 10 monthly cycles of cisplatin (30 mg/m(2)/d on days 1 to 3) and etoposide (150 mg/m(2)/d on days 1 to 3). Tumor originated in the visual pathway in 29 patients, in the temporal lobe in two, in the frontal lobe in two, and in the spine in one.

Modulation of the inward rectifier potassium channel IRK1 by the Ras signaling pathway.

In this study, we investigated the role of Ras and the mitogen-activated protein kinase (MAPK) pathway in the modulation of the inward rectifier potassium channel IRK1. We show that although expression of IRK1 in HEK 293 cells leads to the appearance of a potassium current with strong inward rectifying properties, coexpression of the constitutively active form of Ras (Ras-L61) results in a significant reduction of the mean current density without altering the biophysical properties of the channel. The inhibitory effect of Ras-L61 is not due to a decreased expression of IRK1 since Northern analysis indicates that IRK1 mRNA level is not affected by Ras-L61 co-expression.

Sites of phosphorylation by protein kinase A in CDC25Mm/GRF1, a guanine nucleotide exchange factor for Ras.

Activation of the neuronal Ras GDP/GTP exchange factor (GEF) CDC25Mm/GRF1 is known to be associated with phosphorylation of serine/threonine. To increase our knowledge of the mechanism involved, we have analyzed the ability of several serine/threonine kinases to phosphorylate CDC25Mm in vivo and in vitro. We could demonstrate the involvement of cAMP-dependent protein kinase (PKA) in the phosphorylation of CDC25Mm in fibroblasts overexpressing this RasGEF as well as in mouse brain synaptosomal membranes.

Calcium and calmodulin are essential for Ras-GRF1-mediated activation of the Ras pathway by lysophosphatidic acid.

The exchange factor Ras-GRF1, also called CDC25Mm, couples calcium signaling and G-protein-coupled receptors to Ras and downstream effectors. Here we show that when expressed in different cell lines Ras-GRF1 strongly enhances the level of active Ras (Ras-GTP) and the activity of mitogen-activated protein kinases (MAPK). Moreover, in NIH 3T3 fibroblasts it potentiates the effect of lysophosphatidic acid (LPA) on Ras protein and MAPK activity.

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita.

Myotonia congenita (MC) is a genetic disease characterized by mutations in the CLCN1 gene (OMIM*118425) encoding the skeletal muscle voltage-gated chloride channel (ClC-1). Autosomal dominant and recessive forms are observed, characterized by impaired muscle relaxation after forceful contraction (myotonia), which is more pronounced after inactivity and improves with exercise. We report three novel and one known mutations of the CLCN1 gene in four unrelated MC families.

Expression of Ras-GRF in the SK-N-BE neuroblastoma accelerates retinoic-acid-induced neuronal differentiation and increases the functional expression of the IRK1 potassium channel.

Ras-GRF, a neuron-specific Ras exchange factor of the central nervous system, was transfected in the SK-N-BE neuroblastoma cell line and stable clones were obtained. When exposed to retinoic acid, these clones showed a remarkable enhancement of Ras-GRF expression with a concomitant high increase in the level of active (GTP-bound) Ras already after 24 h of treatment. In the presence of retinoic acid, the transfected cells stopped growing and acquired a differentiated neuronal-like phenotype more rapidly than the parental ones.

[Cerebral tumors in children with neurofibromatosis type 1].

Twenty-eight children (mean age 8 years) with neurofibromatosis type 1 (NF1) and cerebral tumor were studied from 1975 to 1992 (mean follow-up 8.1 years) considering the biological behaviour of the tumor and the patient's quality of life, in order to identify retrospectively the best management. All, except one, tumors were benign gliomas, 76% of the optic nerve/chiasm (NCO), just 10% infratentorial.

Triventricular hydrocephalus: review of 71 cases evaluated at the Istituto Neurologico "C. Besta" Milan over the last 10 years.

The authors review 71 patients with triventricular hydrocephalus in whom a contrast-enhanced CT scan did not show any tumoral or vascular lesion that could have caused the hydrocephalus. The patients were subdivided into three age groups. The results of the neuroradiological examination, the surgical treatment, and the complications of the shunt procedure are analyzed, with special reference to the high number (13) of periaqueductal alterations of signal pattern found on MRI (interpreted as a "slow growing" neoplasm) and to the incidence and causes of shunt malfunction.