Functional neuroimaging of responses to multiple sensory stimulations in newborns with perinatal asphyxia.

Background: Functional neuroimaging can provide pathophysiological information in perinatal asphyxia (PA). However, fundamental unresolved questions remain related to the influence of neurovascular coupling (NVC) maturation on functional responses in early development. We aimed to probe the feasibility and compare the responses to multiple sensory stimulations in newborns with PA using functional magnetic resonance imaging (fMRI) and functional near-infrared spectroscopy (fNIRS).

Kaposiform Lymphangiomatosis in a Male Adolescent: A Clinical Challenge and the Role of Genetics.

Kaposiform lymphangiomatosis (KLA) is a rare and aggressive generalized lymphatic anomaly (GLA), with distinctive clinical, radiology, morphologic, and genetic features. It does not have a current standard treatment and presents poor overall prognosis. Somatic mutations in the RAS pathway were reported as the likely driver for the majority of patients.

Biomarkers of hypoxic-ischemic encephalopathy: a systematic review.

Background: Current diagnostic criteria for hypoxic-ischemic encephalopathy in the early hours lack objective measurement tools. Therefore, this systematic review aims to identify putative molecules that can be used in diagnosis in daily clinical practice (PROSPERO ID: CRD42021272610).

Data Sources: Searches were performed in PubMed, Web of Science, and Science Direct databases until November 2020.

Hypothermia Does Not Boost the Neuroprotection Promoted by Umbilical Cord Blood Cells in a Neonatal Hypoxia-Ischemia Rat Model.

Neonatal hypoxic-ischemic encephalopathy (HIE) is one of the leading causes of death and long-term disability in the perinatal period. Currently, therapeutic hypothermia is the standard of care for this condition with modest efficacy and strict enrollment criteria. Therapy with umbilical cord blood cells (UCBC) has come forward as a strong candidate for the treatment of neonatal HIE, but no preclinical studies have yet compared the action of UCBC combined with hypothermia (HT) with the action of each therapy by itself.

Use of Therapeutic Hypothermia in Sudden Unexpected Postnatal Collapse: A Retrospective Study.

Introduction: Sudden and unexpected postnatal collapse is a rare event with potentially dramatic consequences. Intervention approaches are limited, but hypothermia has been considered after postnatal collapse. The aim of this study was to analyse sudden and unexpected postnatal collapse cases that underwent therapeutic hypothermia in the five Portuguese hypothermia centres.

Stem Cell Therapy for Neonatal Hypoxic-Ischemic Encephalopathy: A Systematic Review of Preclinical Studies.

Neonatal hypoxic-ischemic encephalopathy (HIE) is an important cause of mortality and morbidity in the perinatal period. This condition results from a period of ischemia and hypoxia to the brain of neonates, leading to several disorders that profoundly affect the daily life of patients and their families. Currently, therapeutic hypothermia (TH) is the standard of care in developing countries; however, TH is not always effective, especially in severe cases of HIE.

[Prognostic value of near-infrared spectroscopy in hypoxic-ischaemic encephalopathy].

Introduction: Despite treatment with hypothermia, 40% of newborns with hypoxic-ischaemic encephalopathy die or suffer moderate to severe disability. Near-infrared spectroscopy (NIRS) could be a useful, non-invasive tool to establish the prognosis.

Objectives: To evaluate the prognostic value of NIRS in predicting neurodevelopmental outcomes at 18 to 36 months in newborns with hypoxic-ischaemic encephalopathy, and to establish the time points and cut-off values of regional cerebral oxygen saturation that exhibit the strongest correlation to these outcomes.

Inborn Errors of RNA Lariat Metabolism in Humans with Brainstem Viral Infection.

Viruses that are typically benign sometimes invade the brainstem in otherwise healthy children. We report bi-allelic DBR1 mutations in unrelated patients from different ethnicities, each of whom had brainstem infection due to herpes simplex virus 1 (HSV1), influenza virus, or norovirus. DBR1 encodes the only known RNA lariat debranching enzyme.

Defining a Brief Intervention for the Promotion of Psychological Well-being among Unemployed Individuals through Expert Consensus.

Background: Epidemiologic evidence highlights the harmful consequences of unemployment on health and well-being. This emphasizes the need to design low-cost interventions to prevent the adverse mental health effects of unemployment. The main aim of this study was to create expert-consensus regarding development and implementation of a brief, sustainable, and effective intervention program for promoting mental health among unemployed.

Complement factor B mutation-associated aHUS and myocardial infarction.

A 6-month-old female infant was referred with a 3-day history of low-grade fever, slight nasal congestion and rhinorrhoea. On admission, the clinical findings were unremarkable and she was discharged home. However, she became progressively more listless with a decreased urine output and was once again seen in the emergency department.

Phenotyping GABA transaminase deficiency: a case description and literature review.

Gamma-aminobutyric acid transaminase (GABA-T) deficiency is an autosomal recessive disorder reported in only three unrelated families. It is caused by mutations in the ABAT gene, which encodes 4-aminobutyrate transaminase, an enzyme of GABA catabolism and mitochondrial nucleoside salvage. We report the case of a boy, deceased at 12 months of age, with early-onset epileptic encephalopathy, severe psychomotor retardation, hypotonia, lower-limb hyporeflexia, central hypoventilation, and rapid increase in weight and, to a lesser rate, length and head circumference.

Invasive Meningococcal Disease: Application of Base Excess and Platelets Score in a Portuguese Paediatric Intensive Care Unit.

Introduction: Meningococcal infection has a high mortality and morbidity. Recently a new prognostic scoring system was developed for paediatric invasive meningococcal disease, based on platelet count and base excess â base excess and platelets score. The main objective of this study was to evaluate the accuracy of base excess and platelets score to predict mortality in children admitted to intensive care due to invasive meningococcal disease.

Memories of shame experiences with others and depression symptoms: the mediating role of experiential avoidance.

Background: Shame experiences have been suggested to be related with psychopathological symptoms and with self-relevant beliefs. Recent studies also suggest that avoidant-focused strategies (e.g.

Innocent heart murmurs.

Innocent heart murmur is a frequent auscultatory finding in children. The diagnosis is essentially clinical, without need for further investigation. However, excluding heart disease can be a difficult task.