Developmental outcome of electroencephalographic findings in encephalopathy.

haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals.

[RYR1 myopathies in childhood: phenotype-genotype correlation and incidence].

Introduction: Ryanodine receptor type 1-related myopathies (RYR1-RM) represent the most prevalent category of congenital myopathies. The introduction of genetic techniques has shifted the diagnostic paradigm, suggesting the prioritization of molecular studies over biopsies. This study aims to explore the clinical and epidemiological characteristics of patients with RYR1 gene variants in a tertiary pediatric hospital, intending to enhance the understanding of the genotype-phenotype correlation in RYR1-RM.

[KIF1A gene-associated neurological disease: the correlation between genotype and phenotype].

Introduction: KIF1A-associated-neurological-disorder (KAND) encephalopathy is a group of progressive neurodegenerative pathologies of varying severity caused by mutations in the KIF1A gene (Kinesin family member 1A) located on chromosome 2q37.3. This gene encodes a protein of the kinesin-3 family that participates in the ATP-dependent anterograde transport of presynaptic vesicles through neuronal microtubules.

[Congenital myotonia. Incidence and presentation of a series of cases].

Introduction: Myotonia congenita is the most common form of genetic myotonia and is caused by mutations in the CLCN1 gene. It can be inherited in an autosomal dominant or recessive manner. We present a series of cases to update its incidence in our environment, to describe its phenotype in relation to the genotype found, and we also review the mutations found, among which we provide a new, undescribed alteration.

Prior Distribution and Entropy in Computer Adaptive Testing Ability Estimation through MAP or EAP.

To derive a latent trait (for instance ) in a computer adaptive testing (CAT) framework, the obtained results from a model must have a direct relationship to the examinees' response to a set of items presented. The set of items is previously calibrated to decide which item to present to the examinee in the next evaluation question. Some useful models are more naturally based on conditional probability in order to involve previously obtained hits/misses.

Bronchiolitis before and after the SARS-CoV-2 pandemic: Twelve years of experience in a Spanish paediatric hospital.

Introduction: Acute bronchiolitis is the main cause of hospitalization in children under 2 years of age, with a regular seasonality, mostly due to the respiratory syncytial virus.

Objectives: To describe the epidemiology of bronchiolitis hospitalizations in our center in the last 12 years, and analyze the changes in clinical characteristics, microbiology, and adverse outcomes during the SARS-CoV-2 pandemic.

Methods: Observational study including patients admitted for bronchiolitis between April 2010 and December 2021 in a Spanish tertiary paediatric hospital.

[Joubert syndrome: incidence and clinicoradiological description of a genotyped series of seven cases].

Introduction: Joubert syndrome is produced by an alteration of the ciliary proteins essential for the structure and function of neurons and organs such as the kidneys, liver, sight, and hearing. Some 34 mutations are currently known.

Objective: Calculate the incidence / prevalence, describe the phenotype / genotype and radiological alterations of this ciliopathy in our health area.

[Epileptic status in paediatric patients: its developmental consequences and an epidemiological update].

Introduction: Epileptic status represents the most frequent neurological emergency in pediatrics. Prolonged febrile seizures represent the most common etiology. Our objective is to update its epidemiology and analyze its evolutionary consequences.

Changes from COVID-19. A perspective from internal pediatric medicine.

The SARS-CoV2 pandemic dimension has affected the Hospital Pediatrics Medicine assistance in our country. New challenges generated by COVID-19 require a series of proactive measures, based on existing scientific knowledge and standards of good practice, that allow the Pediatric Hospital services readiness and operability. Hospital Internal Pediatrics, as responsible of integral care of the hospitalized child, plays a leading role in the new hospital model emerging from this crisis.

[Changes from COVID-19. A perspective from internal pediatric medicine].

SARS-CoV-2 pandemic dimension has affected the Hospital Pediatrics Medicine assistance in our country. New challenges generated by COVID-19 require a series of proactive measures, based on existing scientific knowledge and standards of good practice, that allow the Pediatric Hospital services readiness and operability. Hospital Internal Pediatrics, as responsible of integral care of the hospitalized child, plays a leading role in the new hospital model emerging from this crisis.

[ADCY5-associated dyskinesia in young children: a case report of a family and an updated review].

Introduction: Dyskinesia of the ADCY5 mutation is a rare movement-onset disorder in childhood. It is characterized by isolated chorea movements or associated with myoclonus and dystonia affecting the limbs, neck and face. The low number of patients and families still does not allow an adequate genotype-phenotype relationship.

Influence of pneumococcal vaccination on the hospitalization of healthy pediatric patients due to typical Community-Acquired Pneumonia.

Introduction: Community-Acquired Pneumonia (CAP) is one of the most frequent causes of hospital admission in children. Our objective is to measure the impact of the introduction of pneumococcal conjugate vaccines on the hospitalization of previously healthy children due to CAP.

Method: From 2011 to 2016, a partially retrospective, prospective, and descriptive study was carried out on healthy pediatric patients (3 months-14 years old) with CAP, who required hospital admission.

Does exposure of pregnant women to epidemic respiratory syncytial virus affect the severity of bronchiolitis?

Introduction: Passive transplacental immunity against respiratory syncytial virus (RSV) appears to mediate in the protection of the infant for the first 6 months of life. Lower environmental exposure in pregnant women to RSV epidemic may influence the susceptibility of these infants to infection by lowering the levels of antibodies that are transferred to the fetus.

Objectives: To contrast the risk of severe disease progression in infants with acute bronchiolitis by RSV, according to the mother's level of exposure to epidemic.

Apnea in infants hospitalized with pertussis: Incidence and gestational smoking association.

Background: Apnea is a life-threatening complication of pertussis, now a re-emerging cause of infant hospitalization worldwide. The incidence of apnea during pertussis ranges widely. The aim of this study was therefore to determine the incidence of apnea in hospitalized infants diagnosed with pertussis and to identify relevant risk factors for apnea.

[Validation study of an acute bronchiolitis severity scale to determine admission to a Paediatric Intensive Care Unit].

Introduction: At present, there are few validated scoring tests for assessing acute bronchiolitis (AB) severity, and limited information on their test power. The aim of the present study is to evaluate the validity of an acute bronchiolitis severity score (ABSS) to help in deciding PICU admission.

Patients And Method: Prospective, descriptive, observational study of previously healthy infants under 1 year of age with AB, where the ABSS was used to compare severity as regards the need for PICU admission.

[Lower lymphocyte response in severe cases of acute bronchiolitis due to respiratory syncytial virus].

Introduction: Acute bronchiolitis (AB) of the infant has a serious outcome in 6-16% of the hospital admitted cases. Its pathogenesis and evolution is related to the response of the T lymphocytes. The objective of the present study is to determine if the lower systemic lymphocytic response is related to a worse outcome of AB in hospitalised infants.

[Apnoea in infants with bronchiolitis: Incidence and risk factors for a prediction model].

Introduction: The presence of apnoea in acute bronchiolitis (AB) varies between 1.2% and 28.8%, depending on the series, and is one of its most fearsome complications.

[Prediction of Severe Course in Infants with RSV Bronchiolitis under 6 Months. Spain].

Objective: The need for mechanical ventilation (MV) in acute bronchiolitis (AB) by respiratory syncytial virus (RSV) varies depending on the series (6-18%). Our goal is to determine the admissions to PICU for MV in patients under 6 months with AB and define the risk factors for building a prediction model.

Methods: Retrospective study of patients younger than 6 months admitted by BA-VRS between the periods April 1, 2010 and March 31, 2015 was made.

[Epidemiology of patients hospitalised due to bronchiolitis in the south of Europe: Analysis of the epidemics, 2010-2015].

Introduction: The renewal of clinical practice guidelines on acute bronchiolitis (AB) requires the re-assessment of the consequences of their implementation. An update is presented on the main clinical and epidemiological variables in patients hospitalised due to AB in Southern Europe and an analysis made of the causes associated with longer hospital stay.

Patients And Method: A retrospective study was conducted on patients admitted to hospital due to AB during 5 epidemics (2010-2015), with an analysis of the major clinical and epidemiological variables.

[Renal scarring in children under 36 months hospitalised for acute pyelonephritis].

Introduction: Acute pyelonephritis (APN) is one of the most common causes of serious bacterial infection in infants. Renal scarring is the most prevalent long-term complication.

Objectives: To review the incidence of renal scarring within 6 months after an episode of APN in children under 36 months and its relationship with imaging studies, clinical settings, and bacteriology.