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Antibodies Against ZSCAN1 in Pediatric and Adult Patients With Non-Paraneoplastic ROHHAD Syndrome.

Neurol Neuroimmunol Neuroinflamm

September 2024

From the Neuroimmunology Program (A.B.S., G.O.-C., J.O.D., F.G., T.A., L.S.), Fundació de recerca clínic-Institut d'Investigacions Biomèdiques August Pi i Sunyer (FCRB-IDIBAPS), Caixa Research Intitute (CRI), Universitat de Barcelona; Pediatric Neurology Section (G.O.-C.), Hospital Parc Taulí, Sabadell, Barcelona; Department of Pulmonology (Á.O.-G.), Hospital General Universitario Nuestra Señora del Prado, Talavera de la Reina, Spain; Neuroimmunology Program Barrow Neurological Institute (M.C.K.), Phoenix Children's Hospital, Phoenix, AZ; Departments of Child Health, Cellular and Molecular Medicine, Genetics, and Neurology, University of Arizona College of Medicine-Phoenix; Division of Autonomic Medicine (D.W.-M., C.M.R.), Department of Pediatrics, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA; Department of Pediatrics (D.W.-M.), Northwestern University Feinberg School of Medicine; Stanley Manne Children's Research Institute (D.W.-M., C.M.R.), Chicago, IL; Pediatric Neurology Department (C.F., T.A.), Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Children's Hospital, Barcelona; Department of Pediatric Neurology (J.A.F.-R.), Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), University of Cordoba, CIBERER-ISCIII, Spain; Paediatric Endocrinology Section (M.C.), Hospital Materno-Infantil Vall d'Hebron, Universitat Autònoma, Barcelona, Spain; Division of Neurology (M.M.S.), Hospital das Clínicas (HCFMUSP), Faculdade de Medicina, Universidade de São Paulo; Department of Neurology (E.K.E.), University of State of Bahia, Salvador, Brazil; Servicio de Neuropediatria (S.I.-M.), servicio de Pediatria, Hospital Virgen de la Arrixaca, Murcia, España; Centro de Investigación Biomédica en Red (J.O.D., L.S.), Enfermedades Raras (CIBERER-ISCIII), Madrid, Spain; Department of Neurology (J.O.D.), Perelman School of Medicine, University of Pennsylvania, Philadelphia; Catalan Institution for Research and Advanced Studies; and Hospital Clínic de Barcelona (T.A.), Barcelona, Spain.

Objectives: To report the association of zinc finger and SCAN domain containing 1 antibodies (ZSCAN1-abs) with rapid-onset obesity, hypothalamic dysfunction, hypoventilation, and autonomic dysregulation (ROHHAD) syndrome in patients without tumor.

Methods: Patients with symptoms compatible with ROHHAD syndrome but without an associated tumor were selected from our database. Serum and CSF samples were examined for the presence of ZSCAN1-abs by an in-house cell-based assay.

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Objectives: To investigate the association of growth patterns with overweight/obesity and markers of metabolic syndrome in ex-premature adolescents; to assess the relationship between the increase (1 SD) in Z-score weight at term and at 2 years with outcomes in adolescents with or without intrauterine growth restriction; and to evaluate the association between the Cook criteria and overweight/obesity according to body mass index.

Methods: Cohort, retrospective, analytical study. Population: adolescents born weighting<1,500 g.

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The genetics of human congenital coronary vascular anomalies (hCCVA) remains largely underresearched. This is surprising, because although coronary vascular defects represent a relatively small proportion of human congenital heart disease (CHD), hCCVAs are clinically significant conditions. Indeed, hCCVA frequently associate to other congenital cardiac structural defects and may even result in sudden cardiac death in the adult.

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Article Synopsis
  • Lateral suspension is a surgical procedure designed to fix apical prolapse by placing T-shaped mesh in the abdomen, but there’s no consensus on its safety or indications.
  • A Delphi process involved 21 international expert surgeons discussing and reaching agreement on various aspects of laparoscopic lateral suspension (LLS) through rounds of statements and discussions.
  • The consensus highlighted LLS as a safe and effective method for treating pelvic organ prolapse, along with key technical details and indications for the procedure.
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This document has been developed to provide a guide for basic and advanced reporting in paediatric echocardiography. Furthermore, it aims to help clinicians in the interpretation of echocardiographic measurements and functional data for estimating the severity of disease in different paediatric age groups. The following topics will be reviewed and discussed in the present document: (i) the general principle in constructing a paediatric echocardiographic report, (ii) the basic elements to be included, and (iii) the potential and limitation of currently employed tools used for disease severity quantification during paediatric reporting.

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Indirect Effects of Neighbourhood Socioeconomic Status on Preterm Birth Risk in an Argentine Population.

Matern Child Health J

September 2024

Estudio Colaborativo Latino Americano de Malformaciones Congénitas (ECLAMC), Centro de Educación Médica e Investigaciones Clínicas-Consejo Nacional de Investigaciones Científicas y Técnicas (CEMIC-CONICET), Ciudad Autónoma de Buenos Aires, Argentina.

Background: Preterm birth (PTB) is the main condition related to perinatal morbimortality worldwide. The aim of this study was to determine the indirect effects of neighbourhood socioeconomic status (NSES) on the risk of spontaneous PTB.

Methods: We carried out a retrospective case-control study including sociodemographic and obstetric data of multigravid women who gave birth at a maternity hospital in Tucumán, Argentina, between 2005 and 2010: 949 women without previous PTB nor pregnancy loss who delivered at term and 552 who had spontaneous PTB.

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Article Synopsis
  • The EPICO-SEHOP platform in Spain collects COVID-19 data specifically from children, comparing those with cancer or recent stem cell transplants to those without underlying health issues.
  • Findings show that children with cancer or who have undergone stem cell transplants generally experience milder COVID-19 symptoms (7.1%) compared to those without comorbidities (14.7%), unless they had a recent transplant (less than 300 days), where 35.7% faced severe illness.
  • The shared data aims to inform treatment and isolation strategies, emphasizing the role of collaborative registries in addressing health crises during the pandemic.
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Unlabelled: IMPACT-III and IMPACT-III-P are health-related quality of life (HRQoL) questionnaires for patients with pediatric inflammatory bowel disease (p-IBD) and their parents/caregivers. We aimed to perform a transcultural adaptation and validation for the Spanish context. Translation, back-translation, and evaluation of the questionnaires were performed by an expert committee and 12 p-IBD families.

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Introduction: Growth modulation allows correction of progressive ulnar deviation of the distal radius in skeletally immature patients, which may occur as a consequence of various pathologies. The aim of this study is to evaluate the radiographic results and complication rate in a series of patients treated with minifragment plates.

Methods: The medical records of 12 patients who underwent guided growth with a minifragment plate on the radial aspect of the distal radius as a consequence of angular deformities in the distal radius were retrospectively reviewed.

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REHem-AR was created in 2013. The progressive implementation of neonatal screening for haemoglobinopathies in Spanish autonomous communities where the registry had not been implemented, as well as the addition of new centres during this period, has considerably increased the sample of patients covered. In this study, we update our previous publication in this area, after a follow-up of more than 5 years.

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COVID-19 affects children less seriously than adults; however, severe cases and deaths are documented. This study objective is to determine socio-demographic, clinical and laboratory indicators associated with severe pediatric COVID-19 and mortality at hospital entrance. A multicenter, retrospective, cross-sectional study was performed in 13 tertiary hospitals in Bolivia.

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Article Synopsis
  • Duchenne and Becker muscular dystrophies (DMD and BMD) are genetic disorders affecting muscle strength due to a lack of dystrophin, also linked to higher rates of epilepsy and central nervous system issues.
  • A review of 416 individuals with dystrophinopathies found a lifetime epilepsy prevalence of 1.4%, lower than previous studies, with no significant differences between DMD and BMD or their genotypes, and cognitive impairment was not linked to higher epilepsy rates.
  • The research suggests that the actual prevalence of epilepsy in these conditions may be significantly lower than previously thought, which may have important implications for the medical care of affected individuals, especially those with concurrent epilepsy.
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Volga German surnames and Alzheimer's disease in Argentina: an epidemiological perspective.

J Biosoc Sci

July 2024

Instituto Patagónico de Ciencias Sociales y Humanas (IPCSH), Centro Nacional Patagónico, Consejo Nacional de Investigaciones Científicas y Técnicas, Puerto Madryn, Argentina.

The N141I variant (PSEN1 gene) is associated with familial forms of early-onset Alzheimer's disease (AD) in descendants of Volga Germans, whose migration to Argentina is well documented. As a proxy for geographic origin, surnames can be a valuable tool in population studies. The 2015 Argentine Electoral Registry provided geographic data for 30,530,194 individuals, including 326,922 with Volga German surnames.

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Background: Some maternal characteristics are related to alcohol intake during pregnancy, which irreversibly compromises the maternal-fetal binomial integrity.

Objectives: To identify the frequency, impact, and factors associated with alcohol consumption during pregnancy.

Design And Setting: A cross-sectional study was performed at the Hospital Materno Infantil Presidente Vargas (HMIPV) in Porto Alegre/RS between March and December 2016.

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Objective: To analyze the characteristics of the new medicines approved in the pediatric population in the last 3 years, both those with studies only in the pediatric population and those that extend their indication in this population group, as well as the current situation in relation to their marketing and financing.

Methods: Descriptive observational study of all drugs that include an indication in the pediatric population in Spain (by extension of the indications of drugs already authorized or because they are new drugs that already include an indication in this population group), from January 2019 to March 2022.

Results: During the study period, 129 drugs included their indication in the pediatric population.

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Introduction: The course in Primary Care in Pediatric Trauma (ATIP in Spanish) has been taught in Spain since 1997, and there are currently 9 accredited training centers. Care of polytraumatized pediatric patients often takes place in an environment conducive to errors resulting from forgetfulness, which is why checklists - mnemonic tools widely used in industry and medicine - are particularly useful to avoid such errors. Although several checklists exist for pediatric trauma care, none have been developed within the setting of our course.

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There is very limited evidence regarding the use of prone position as part of the treatment of severe ARDS in pregnant patients. Currently, recommendations for invasive ventilatory management in this population are very scarce and are based on the extrapolation of conclusions obtained in studies of non-pregnant patients. The available literature asserts that the anatomy and physiology of the pregnant woman undergoes complex adaptive changes that must be considered during invasive ventilatory support and prone position.

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Introduction: ECLIM-SEHOP platform was created in 2017. Its main objective is to establish the infrastructure to allow Spanish participation into international academic collaborative clinical trials, observational studies, and registries in pediatric oncology. The aim of this manuscript is to describe the activity conducted by ECLIM-SEHOP since its creation.

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Objective: To describe the patterns of diabetic ketoacidosis (DKA) occurrence in children newly diagnosed with type 1 diabetes (T1DM) across several Latin American pediatric diabetes centers from 2018 to 2022.

Methods: A retrospective chart review included children under 18 with new-onset T1DM from 30 Latin American pediatric diabetes centers (Argentina, Chile, and Peru) between 30 December 2018 and 30 December 2022. Multiple logistic regression models examined the relationships between age, gender, medical insurance, BMI, and DKA at new-onset T1DM.

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Healthcare service use for children with chronic complex diseases: A longitudinal six-year follow-up study.

J Pediatr Nurs

July 2024

Universidad de Málaga, Faculty of Health Sciences, Department of Nursing, Spain; Instituto de Investigación Biomédica de Málaga-Bionand (IBIMA), Spain. Electronic address:

Purpose: The objective was analysed the patterns use of healthcare services of this population and the influence of their clinical and sociodemographic characteristics.

Design And Methods: A six-year longitudinal follow-up study was performed to evaluate the annual healthcare resources use and clinical data among children with complex chronic diseases in Spain between 2015 and 2021. The sample trends in healthcare usage and the associated factors were analysed using ANCOVA and multivariable linear regression models.

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Prevalence of Bacterial Codetection and Outcomes for Infants Intubated for Respiratory Infections.

Pediatr Crit Care Med

July 2024

Red Colaborativa Pediátrica de Latinoamérica (LARed Network), Montevideo, Uruguay.

Article Synopsis
  • The study aimed to find out how common respiratory bacterial codetection is in children under 2 years old who are intubated for acute lower respiratory tract infections, mainly viral bronchiolitis, and to see how it affects the duration of mechanical ventilation.
  • It analyzed 472 children, finding that 29% had bacterial codetection, with younger age and positive RSV tests linked to higher rates, while codetection didn't show a clear connection to longer mechanical ventilation duration.
  • The research suggests that while bacterial codetection is common, it may not significantly impact the length of time patients need invasive mechanical ventilation.
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Article Synopsis
  • - The study aims to categorize respiratory infections in ventilated children, focusing on outcomes like the duration of mechanical ventilation and hospital stays, given the ongoing use of terms like ventilator-associated pneumonia (VAP) and tracheobronchitis in clinical practice.
  • - Conducted across 15 Pediatric Intensive Care Units, the research analyzed data from 391 ventilated children, finding that the average hospital stay was 21 days with a mortality rate of 5.9%. Of the respiratory infections documented, 29.3% were classified as VAP and 70.7% as ventilator-associated tracheobronchitis (VAT).
  • - Infections following ventilator-associated event (VAE) criteria led to
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[Introduction to food allergy].

Rev Alerg Mex

December 2023

Director responsable de la S.C. de Pediatría, Hospital Materno Infantil Macedonio Melloni, Milán, Italia. Director del Departamento Materno Infantil, Hospital Fatebenefratelli-Ophthalmic de Milán, Italia. Profesor adjunto de la Escuela de Es-pecialización en Pediatría III, Universidad de Milán y Consejero de la Sociedad Italiana de Pediatría, Sección Lombarda. Pediatric Hospital Bambino Gesú IRCCS Allergy division, Roma, Italia.

Food allergy is a common chronic disorder that affects infants, children, adolescents, and adults. The prevalence of food allergy has increased in recent decades throughout the world, not limited to Western countries. Since there is no treatment, this focuses on avoiding allergens, in addition to educating patients and caregivers in the emergency treatment of acute reactions, for example: application of epinephrine.

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