RESUMO
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). Methods: Responses to visual, auditory, and sensorimotor passive stimulation were measured with fMRI and fNIRS and compared in 18 term newborns with PA and six controls. Results: Most newborns exhibited a positive fMRI response during visual and sensorimotor stimulation, higher in the sensorimotor. An asymmetric pattern (negative in the left hemisphere) was observed in auditory stimulation. The fNIRS response most resembling the adult pattern (positive) in PA occurred during auditory stimulation, in which oxyhemoglobin (HbO) increased, and deoxyhemoglobin (HbR) decreased. Significative differences were found in the HbO and HbR profiles in newborns with PA compared to the controls, more evident in auditory stimulation. Positive correlations between the fMRI BOLD signal and at least one fNIRS channel (HbO) in all stimuli in newborns with PA were identified: the strongest was in the auditory (r=0.704) and the weakest in the sensorimotor (r=0.544); in more fNIRS channels, in the visual. Conclusions: Both techniques are feasible physiological assessment tools, suggesting a distinctive level of maturation in sensory and motor areas. Differences in fNIRS profiles in newborns with PA and controls and the fMRI-fNIRS relationship observed can encourage the fNIRS as a clinically emergent valuable tool.
RESUMO
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. We report a case of a 17-year-old male adolescent who was referred to the emergency department due to a severe anemia. Laboratory workup confirmed the anemia and revealed coagulation factor consumption and fibrinolysis. Chest-abdomen-pelvis computed tomography revealed an extensive cervical, mediastinal, abdominal and retroperitoneal "hematoma." During admission, progressive pancytopenia, and disseminated intravascular coagulation were observed, and the hypothesis of a tumor/neoplastic etiology was considered. A thoracoscopy revealed a moderate hemorrhagic pleural effusion and a mediastinal mass resembling a "hemolymphangiomatosis" malformation, which was biopsied. Histology displayed a lymphatic-venous malformation. The patient was presented at the multidisciplinary Vascular Anomalies Center and, due to the complex vascular anomaly diagnosis, oral sirolimus monotherapy was initiated. Four years later, the patient remains clinically stable, with stability of the lesion's dimensions and characteristics. A p.Q61R variant in the NRAS gene [NM_002524.4: c.182A>G, p.(Gln61Arg)], with 5% allelic fraction and 1993x coverage was detected. In conjunction with clinical and pathological findings, it allowed KLA final diagnosis. This case reinforces the importance of a high index of clinical suspicion and highlights the need of referring these cases to referral to Vascular Anomalies Centers.
Assuntos
Derrame Pleural , Sirolimo , Humanos , Masculino , Adolescente , Tomografia Computadorizada por Raios XRESUMO
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. English original papers analyzing samples from newborns > 36 weeks that met at least two American College of Obstetricians and Gynecologists diagnostic criteria and/or imaging evidence of cerebral damage were included. Bias was assessed by the Newcastle-Ottawa Scale. The search and data extraction were verified by two authors separately. RESULTS: From 373 papers, 30 met the inclusion criteria. Data from samples collected in the first 72 hours were extracted, and increased serum levels of neuron-specific enolase and S100-calcium-binding protein-B were associated with a worse prognosis in newborns that suffered an episode of perinatal asphyxia. In addition, the levels of glial fibrillary acidic protein, ubiquitin carboxyl terminal hydrolase isozyme-L1, glutamic pyruvic transaminase-2, lactate, and glucose were elevated in newborns diagnosed with hypoxic-ischemic encephalopathy. Moreover, pathway analysis revealed insulin-like growth factor signaling and alanine, aspartate and glutamate metabolism to be involved in the early molecular response to insult. CONCLUSIONS: Neuron-specific enolase and S100-calcium-binding protein-B are potential biomarkers, since they are correlated with an unfavorable outcome of hypoxic-ischemic encephalopathy newborns. However, more studies are required to determine the sensitivity and specificity of this approach to be validated for clinical practice.
Assuntos
Asfixia Neonatal , Hipóxia-Isquemia Encefálica , Gravidez , Feminino , Humanos , Recém-Nascido , Hipóxia-Isquemia Encefálica/diagnóstico , Biomarcadores , Prognóstico , Asfixia Neonatal/complicações , Asfixia Neonatal/diagnóstico , Proteínas S100 , Fosfopiruvato HidrataseRESUMO
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. Thus, to evaluate the potential of each therapeutic approach, a hypoxic-ischemic brain lesion was induced in postnatal day ten rat pups; two hours later, HT was applied for 4 h; and 24, 48, and 72 h post-injury, UCBC were administered intravenously. The neonatal hypoxic-ischemic injury led to a brain lesion involving about 48% of the left hemisphere that was not improved by HT (36%) or UCBC alone (28%), but only with the combined therapies (25%; p = 0.0294). Moreover, a decrease in glial reactivity and improved functional outcomes were observed in both groups treated with UCBC. Overall, these results support UCBC as a successful therapeutic approach for HIE, even when treatment with therapeutic hypothermia is not possible.
Assuntos
Hipotermia Induzida , Hipotermia , Hipóxia-Isquemia Encefálica , Ratos , Animais , Neuroproteção , Sangue Fetal , Hipóxia-Isquemia Encefálica/terapia , Hipóxia-Isquemia Encefálica/patologia , Isquemia/terapiaRESUMO
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. MATERIAL AND METHODS: In this multicentre, retrospective and descriptive study, clinical, ultrasonography, amplitude-integrated electroencephalography and brain magnetic resonance findings of newborns with postnatal collapse that underwent therapeutic hypothermia are reported (2010 - 2018). Statistical analysis was performed by using IBM SPSS Statistics version 21. RESULTS: Twenty-two cases of sudden and unexpected postnatal collapse were referred for therapeutic hypothermia (82% outborn), all ≥ 36 weeks, with Apgar 5´ ≥ 8. Collapse occurred during the first two hours in 73% (all < 24 hours), 50% during skin-to-skin care, 55% related to feeding and 23% during co-bedding. Moderate-severe encephalopathy and severe acidosis were observed (median: Thompson score 16, pH 6.90, base deficit 22 mmol/L). Amplitude-integrated electroencephalogram was abnormal in 95% and magnetic resonance imaging showed severe brain injury in 46%. The mortality rate was 50%. A possible cause was identified in 27%. DISCUSSION: The incidence rate of 2.7 sudden cases of postnatal collapse per 100 000 births, is possibly under-estimated. All infants suffered the collapse in the first day, mostly within the first two hours, as reported before. Possible causes were identified in less than a third of cases, but multiple predisposing conditions were identified, suggesting that prevention may be possible. Newborn positioning and skin-to-skin care have been the most discussed practices. A significant proportion of infants had poor outcomes. Lower Thompson score, electroencephalogram amplitude normalization and normal magnetic resonance imaging seemed to indicate better outcomes. Although conclusive trials on therapeutic hypothermia after postnatal collapse are not available, its use has been considered individually. No severe adverse effects directly related to hypothermia were registered in this study, but the results do not allow drawing meaningful conclusions. CONCLUSION: In our national sample of 22 infants who suffered sudden and unexpected postnatal collapse and underwent therapeutic hypothermia, a significant proportion had poor outcomes. Absolute conclusions from our experience with hypothermia in postnatal collapse cannot be drawn, but systematic reporting of cases and long-term clinical evaluation would facilitate understanding of the real benefits of hypothermia. As this procedure has not been validated with clinical trials for this indication, its use should be considered on a case-by-case approach. The potentially avoidable nature of unexpected postnatal collapse is evident from its association with certain behaviours and risk factors. Surveillance practices during the first hours should be implemented, whilst the benefits of breastfeeding and skin-to-skin care should continue to be widely promoted.
Introdução: O colapso pós-natal súbito inesperado, apesar de raro, condiciona potenciais consequências dramáticas. As intervenções terapêuticas são limitadas, mas a hipotermia induzida tem sido considerada após estes eventos. O objetivo deste estudo foi analisar os casos de colapso pós-natal súbito inesperado submetidos a hipotermia induzida nos cinco centros portugueses que a realizam. Material e Métodos: Estudo descritivo retrospetivo multicêntrico dos recém-nascidos submetidos a hipotermia induzida após colapso pós-natal entre 2010 e 2018. Foram analisadas as variáveis clínicas, a monitorização por eletroencefalograma de amplitude integrada e imagem por ultrassonografia e a ressonância magnética cerebral. A análise estatística foi efetuada com apoio do IBM SPSS Statistics version 21. Resultados: Foram submetidos a hipotermia terapêutica por colapso súbito 22 recém-nascidos, 82% outborn, todos com 36 ou mais semanas de gestação e Apgar 5´ ≥ 8. A situação ocorreu nas primeiras duas horas de vida em 73% (todos com menos de 24 horas de vida), 50% no contacto pele-a-pele, 55% associados à amamentação e 23% durante partilha de cama. Os recém-nascidos observados apresentaram encefalopatia moderada a grave e acidose grave (mediana: Thompson 16, pH 6,90, défice bases 22 mmol/L). Entre os recém-nascidos, 95% registaram alteração no eletroencefalograma e 46% padrões graves de ressonância cerebral. A taxa de mortalidade foi de 50%. Identificaram-se possíveis causas em 27%. Discussão: Estimou-se uma incidência de 2,7 casos de colapso pós-natal súbito inesperado por cada 100 000 nascimentos, um valor possivelmente subestimado. O colapso ocorreu no primeiro dia em todas as crianças, a maioria nas primeiras duas horas, tal como descrito em publicações anteriores. Identificaram-se possíveis causas em menos de um terço dos casos, mas múltiplas condições predisponentes foram referidas, o que sugere a possibilidade de adoção de medidas preventivas. O posicionamento do recém-nascido e o contacto pele-a-pele têm sido as práticas mais discutidas. Uma proporção significativa das crianças teve uma evolução desfavorável. Um desfecho mais positivo parece ter ocorrido nos casos em que se verificaram valores inferiores na escala de Thompson, normalização do eletroencefalograma de amplitude integrada e ressonância magnética normal. Embora não estejam disponíveis ensaios conclusivos sobre a utilização da hipotermia terapêutica após o colapso pós-natal, o seu uso tem sido considerado individualmente. Nesta revisão não foram observados efeitos adversos diretamente relacionados com o procedimento, mas os resultados não permitem obter conclusões significativas. Conclusão: Na nossa amostra nacional de 22 crianças que sofreram colapso súbito pós-natal e submetidas a hipotermia terapêutica, uma proporção significativa teve uma evolução desfavorável. A nossa experiência e a raridade da entidade clínica não permitem delinear conclusões precisas sobre a aplicação da hipotermia induzida no colapso pós-natal súbito inesperado, pelo que se considera essencial a prevenção. O benefício desta terapêutica poderá ser clarificado através do registo sistemático dos casos e do seguimento a longo prazo das crianças. Embora não existam ensaios clínicos que permitam a sua validação após estes eventos, a hipotermia induzida deve ser uma opção a considerar individualmente. A associação do colapso pós-natal com determinados comportamentos e fatores de risco evidenciam a sua potencial prevenção. Devem ser implementadas estratégias de monitorização nas primeiras horas de vida que permitam simultaneamente a contínua promoção da amamentação e do contacto pele-a-pele.
Assuntos
Hipotermia Induzida , Aleitamento Materno , Feminino , Humanos , Incidência , Lactente , Recém-Nascido , Estudos Retrospectivos , Fatores de RiscoRESUMO
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. Addressing this concern, several preclinical studies assessed the potential of stem cell therapy (SCT) for HIE. With this systematic review, we gathered information included in 58 preclinical studies from the last decade, focusing on the ones using stem cells isolated from the umbilical cord blood, umbilical cord tissue, placenta, and bone marrow. Outstandingly, about 80% of these studies reported a significant improvement of cognitive and/or sensorimotor function, as well as decreased brain damage. These results show the potential of SCT for HIE and the possibility of this therapy, in combination with TH, becoming the next therapeutic approach for HIE. Nonetheless, few preclinical studies assessed the combination of TH and SCT for HIE, and the existent studies show some contradictory results, revealing the need to further explore this line of research.
Assuntos
Encefalopatias/etiologia , Encefalopatias/terapia , Terapia Baseada em Transplante de Células e Tecidos , Hipóxia-Isquemia Encefálica/complicações , Transplante de Células-Tronco , Animais , Astrócitos , Encefalopatias/metabolismo , Encefalopatias/patologia , Diferenciação Celular , Transplante de Células-Tronco de Sangue do Cordão Umbilical , Modelos Animais de Doenças , Humanos , Hipotermia Induzida , Recém-Nascido , Transplante de Células-Tronco Mesenquimais , Microglia , Neurogênese , Neurônios , Estresse Oxidativo , Padrão de Cuidado , Transplante de Células-Tronco/métodosRESUMO
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. PATIENTS AND METHODS: The study included all term newborns with hypoxic-ischaemic encephalopathy managed with hypothermia and NIRS between 2013 and 2016. We established 3 outcome categories: normal neurodevelopment, moderate disability and severe disability. RESULTS: The sample comprised 28 newborns (median gestational age, 39 weeks; median birth weight, 3195g). The median regional cerebral oxygen saturation increased from 65% to 85% at 48hours post birth. Neurodevelopmental outcomes were normal in 28.6%, while 35.7% developed moderate disability and 35.7% severe disability; 3 patients died. We found a statistically significant difference between groups at 48hours (P=.005) and after hypothermia (P=.03), with higher values in patients with disability. When we compared patients in the severe disability group with the other groups, we found a statistically significant area under the ROC curve at 48hours of 0.872 (P=.001) applying a regional cerebral oxygen saturation cutoff of 83.5%. After hypothermia, regional cerebral oxygen saturation values below 66.0% (AUC, 0.794; P=.017) predicted normal development, while values above 82% (AUC, 0.881; P=.001) predicted severe disability. CONCLUSIONS: NIRS seems to be a valuable tool to predict neurodevelopmental outcomes in patients with hypoxic-ischaemic encephalopathy, even after hypothermia, with higher cerebral oxygen saturation values in patients with disability.
Assuntos
Hipotermia Induzida , Hipóxia-Isquemia Encefálica , Humanos , Hipóxia-Isquemia Encefálica/diagnóstico , Recém-Nascido , Prognóstico , Espectroscopia de Luz Próxima ao InfravermelhoRESUMO
Resumo Objetivo Identificar a prevalência das perturbações músculo-esqueléticas em adolescentes e analisar a sua relação com variáveis sociodemográficas, antropométricas e contextuais. Métodos Conceptualizou-se um estudo observacional, transversal, descritivo/relacional de cariz quantitativo, que envolveu 632 adolescentes de seis agrupamentos de escolas das zonas centro e norte de Portugal, com média de idades de 13,36 anos. O protocolo de colheita de dados integrava questões de cariz sociodemográfico, antropométrico, contextual e ainda o "Questionário Nórdico Músculo-Esquelético" para avaliar as perturbações músculo-esqueléticas. Resultados Os dados mostraram que 47,4% dos adolescentes referem perturbação músculo-esqueléticas nos últimos 3 meses, localizando-se estas aos níveis dos ombros (27,8%), região dorsal (25,3%), coxa/anca (26,1%), pescoço (23,4%), zona lombar (22,8%) e joelhos (19,6%). Verificou-se ainda, que as perturbações músculo-esqueléticas são mais prevalentes nos adolescentes do género feminino, naqueles que gastam mais tempo por dia a ver televisão e ainda nos que se deslocam para a escola a pé ou de bicicleta. Conclusão A prevalência das perturbações músculo-esqueléticas nos adolescentes é elevada, tem origem multicausal, tornando-se imperativa a implementação de intervenções de prevenção e readaptação promotoras de um funcionamento músculo-esquelético otimizado.
Resumen Objetivos Identificar la prevalencia de trastornos musculoesqueléticos en adolescentes y analizar su relación con variables sociodemográficas, antropométricas y contextuales. Métodos Se conceptualizó un estudio observacional, transversal, descriptivo/relacional de aspecto cuantitativo, que incluyó 632 adolescentes de seis agrupamientos de escuelas de la zona centro y norte de Portugal, con promedio de edad de 13,36 años. El protocolo de recolección de datos incluyó cuestiones de aspecto sociodemográfico, antropométrico, contextual e, inclusive, el "Cuestionario Nórdico Musculoesquelético" para evaluar los trastornos musculoesqueléticos. Resultados Los datos mostraron que el 47,4% de los adolescentes señalan trastornos musculoesqueléticos en los últimos 3 meses, localizados en el nivel de los hombros (27,8%), región dorsal (25,3%), muslo/cadera (26,1%), cuello (23,4%), zona lumbar (22,8%) y rodillas (19,6%). Además, se verificó que los trastornos musculoesqueléticos tienen mayor prevalencia en adolescentes de género femenino, en los que pasan más tiempo por día viendo televisión y en los que van a la escuela caminando o en bicicleta. Conclusión La prevalencia de los trastornos musculoesqueléticos en adolescentes es elevada, tiene origen multicausal, por lo que se torna imperativa la implementación de intervenciones de prevención y readaptación que promuevan un funcionamiento musculoesquelético optimizado.
Abstract Objective To identify the prevalence of musculoskeletal disorders in adolescents, and to analyze this prevalence relationship with sociodemographic, anthropometric and contextual variables. Methods An observational, cross-sectional, descriptive/relational study with quantitative approach was conceptualized, involving 632 adolescents with mean age of 13.36 from six school groups from Central and North Portugal. Data collection protocol included questions of sociodemographic, anthropometric and contextual nature, and also the "Nordic Musculoskeletal Questionnaire" to assess musculoskeletal disorders. Results Data showed that 47.4% of adolescents mentioned musculoskeletal disorders within the last 3 months, located in the shoulders (27.8%), dorsal region (25.3%), thigh/hips (26.1%), neck (23.4%), lumbar region (22.8%), and knees (19.6%). We found that musculoskeletal disorders are more prevalent in female adolescents, and among those who spend longer time watching television per day, and also those who go to school by foot or bicycle. Conclusion The prevalence of musculoskeletal disorders in adolescents is high and has multicausal origin, turning imperative the implementation of preventive and readapted actions to promote a better musculoskeletal function.
Assuntos
Humanos , Masculino , Feminino , Criança , Adolescente , Postura , Fatores de Risco , Dor Musculoesquelética/epidemiologia , Inquéritos e Questionários , Dor Musculoesquelética/prevenção & controle , Estudo ObservacionalRESUMO
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. METHODS: The Delphi technique entailed a selected panel of 75 experts from various relevant professional backgrounds. Panel members were asked to state their level of agreement (5-point Likert scale) regarding (a) required characteristics for an effective mental health intervention for unemployed people and (b) key variables for assessing the effectiveness of that intervention. Consensus was obtained throughout two rounds of data collection through e-mail contact, with structured questionnaires. Items of the questionnaire were based on literature reviews about community-based interventions for unemployed individuals. RESULTS: Overall, 46 experts collaborated with the Delphi process (final participation rate: 61.3%). Based on a review of the literature, 185 items were identified and grouped into two broad categories (set of characteristics of the intervention and set of variables for effectiveness assessment), aggregating a total of 11 dimensions. The two Delphi rounds resulted in the selection of 35 characteristic items for the intervention program and 54 variables for its effectiveness assessment. Brief group interventions were considered to be effective and sustainable for mental health promotion in unemployment conditions if targeting mental health literacy, training interpersonal skills, and job-search skills. CONCLUSION: As agreed by the panel of experts, a brief, sustainable and effective intervention can be developed and implemented by accounting for unemployed capacity-building for mental health self-care and adequate job-searching attitudes and skills. These results should be further implemented in community and multisector-based standardized interventions, targeting mental health among unemployed people, ensuring adequate conditions for its effectiveness assessment.
RESUMO
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. We show that DBR1 expression is ubiquitous, but strongest in the spinal cord and brainstem. We also show that all DBR1 mutant alleles are severely hypomorphic, in terms of expression and function. The fibroblasts of DBR1-mutated patients contain higher RNA lariat levels than control cells, this difference becoming even more marked during HSV1 infection. Finally, we show that the patients' fibroblasts are highly susceptible to HSV1. RNA lariat accumulation and viral susceptibility are rescued by wild-type DBR1. Autosomal recessive, partial DBR1 deficiency underlies viral infection of the brainstem in humans through the disruption of tissue-specific and cell-intrinsic immunity to viruses.
Assuntos
Encefalopatias Metabólicas Congênitas/genética , Tronco Encefálico/metabolismo , Tronco Encefálico/virologia , RNA/química , RNA/metabolismo , Alelos , Sequência de Aminoácidos , Animais , Encefalopatias Metabólicas Congênitas/patologia , Tronco Encefálico/patologia , Encefalite Viral/genética , Escherichia coli/metabolismo , Feminino , Fibroblastos/metabolismo , Fibroblastos/patologia , Fibroblastos/virologia , Herpesvirus Humano 1 , Humanos , Interferons/metabolismo , Íntrons/genética , Masculino , Camundongos , Proteínas Mutantes/metabolismo , Mutação/genética , Fases de Leitura Aberta/genética , Linhagem , RNA Nucleotidiltransferases/química , RNA Nucleotidiltransferases/deficiência , RNA Nucleotidiltransferases/genética , Receptor 3 Toll-Like/metabolismo , Replicação ViralRESUMO
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. Analytically she was found to have metabolic acidosis, hyperkalaemia, thrombocytopaenia, anaemia and schistocytes in the peripheral blood smear. Based on these findings, the diagnosis of haemolyticâ-uremic syndrome was made. A few hours postadmission, there was an abrupt clinical deterioration. She went into cardiorespiratory arrest and she was successfully resuscitated. An ST-segment elevation was noted on the ECG monitor and the troponin I levels were raised, suggesting myocardial infarction. Despite intensive supportive therapy, she went into refractory shock and died within 30 hours.
Assuntos
Síndrome Hemolítico-Urêmica Atípica/diagnóstico , Fator B do Complemento/genética , Infarto do Miocárdio/diagnóstico , Síndrome Hemolítico-Urêmica Atípica/complicações , Diagnóstico Diferencial , Evolução Fatal , Feminino , Humanos , Lactente , Infarto do Miocárdio/complicaçõesRESUMO
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. He presented signs of premature pubarche, thermal instability, and water-electrolyte imbalance. Serum total testosterone was elevated (43.3 ng/dl; normal range <16), as well as serum growth hormone (7.7 ng/ml; normal range <1). Brain magnetic resonance imaging (MRI) showed decreased myelination and generalized brain atrophy, later confirmed by post-mortem examination. ABAT gene sequencing was performed post-mortem, identifying a homozygous variant c.888G > T (p.Gln296His),not previously described. In vitro analysis concluded that this variant is pathogenic. The clinical features of this patient are similar to those reported so far in GABA-T deficiency. However, distinct mutations may have a different effect on enzymatic activity, which potentially could lead to a variable clinical outcome. Clinical investigation aiming for a diagnosis should not end with the patient's death, as it may allow a more precise genetic counselling for the family.
Assuntos
4-Aminobutirato Transaminase/deficiência , Erros Inatos do Metabolismo dos Aminoácidos/diagnóstico , Erros Inatos do Metabolismo dos Aminoácidos/patologia , 4-Aminobutirato Transaminase/genética , 4-Aminobutirato Transaminase/metabolismo , Erros Inatos do Metabolismo dos Aminoácidos/genética , Erros Inatos do Metabolismo dos Aminoácidos/metabolismo , Humanos , Lactente , Masculino , Mutação/genéticaRESUMO
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. MATERIAL AND METHODS: Observational study, with retrospective data collection, during a 13.5 years period (01/2000 to 06/2013). Mortality by invasive meningococcal disease and related factors (organ dysfunction and multi-organ failure) were analysed. The base excess and platelets score was calculated retrospectively, to evaluate its accuracy in predicting mortality and compared with Paediatric Risk of Mortality and Paediatric Index of Mortality2. RESULTS: Were admitted 76 children with invasive meningococcal disease. The most frequent type of dysfunction was cardiovascular (92%), followed by hematologic (55%). Of the total, 47 patients (62%) had criteria for multi-organ failure. The global mortality was 16%. Neurologic and renal dysfunction showed the strongest association with mortality, adjusted odds ratio 315 (26 - 3 804) and 155 (20 - 1 299). After application of receiver operating characteristic curves, Base Excess and Platelets score had an area under curve of 0.81, Paediatric Index of Mortality2 of 0.91 and Paediatric Risk of Mortality of 0.96. DISCUSSION: The Base Excess and Platelets score showed good accuracy, although not as high as Paediatric Risk of Mortality or Paediatric Index of Mortality2. CONCLUSIONS: The Base Excess and Platelets score may be useful tool in invasive meningococcal disease because is highly sensitive and specific and is objectively measurable and readily available at presentation.
Introdução: A infeção meningocócica tem uma elevada mortalidade e morbilidade. Recentemente foi desenvolvido um score de prognóstico para a doença meningocócica invasiva em idade pediátrica, baseado na contagem plaquetar e no excesso de base - o Base Excess and Platelets Score. O objetivo principal desde estudo foi avaliar a precisão prognóstica do Base Excess and Platelets Score em doentes admitidos em cuidados intensivos pediátricos por doença meningocócica invasiva.Material e Métodos: Estudo observacional, com colheita de dados retrospetiva, que incluiu um período de 13,5 anos (01/2000 a 06/2013). Foram analisados: mortalidade por doença meningocócica invasiva e fatores associados (disfunção de órgão e falência multi-órgão). Foi calculado o Base Excess and Platelets Score de forma retrospetiva, para avaliar a sua precisão na predição da mortalidade e foi comparado com o Paediatric Risk of Mortality e Paediatric Index of Mortality2.Resultados: Foram admitidas 76 crianças com doença meningocócica invasiva. O tipo de disfunção mais frequente foi a cardiovascular (92%), seguida da hematológica (55%). Cumpriram critérios de falência multi-órgão 47 doentes (62%). A mortalidade global foi de 16%. A disfunção neurológica e a renal foram as que apresentaram uma maior associação com a mortalidade, odds ratio ajustado 315 (26 - 3 804) e 155 (20 - 1 299). Após aplicação das curvas receiver operating characteristic, o Base Excess and Platelets Score tinha umaarea under curve de 0,81, o Paediatric Index of Mortality2 de 0,91 e o Paediatric Risk of Mortality de 0,96.Discussão: O Base Excess and Platelets Score apresentou uma boa precisão apesar de não tão elevada como o Paediatric Index of Mortality2 ou o Paediatric Risk of Mortality.Conclusões: O Base Excess and Platelets Score pode ser útil como indicador prognóstico na doença meningocócica invasiva, por apresentar uma elevada sensibilidade e especificidade e ser objetivo e rapidamente disponível na admissão.
Assuntos
Desequilíbrio Ácido-Base/sangue , Infecções Meningocócicas/sangue , Infecções Meningocócicas/metabolismo , Contagem de Plaquetas , Desequilíbrio Ácido-Base/microbiologia , Pré-Escolar , Feminino , Humanos , Lactente , Unidades de Terapia Intensiva Pediátrica , Masculino , Infecções Meningocócicas/complicações , Infecções Meningocócicas/microbiologia , Portugal , Estudos Retrospectivos , Índice de Gravidade de DoençaRESUMO
Introdução: A Doença de Huntington (DH) é uma patologia neuro degenerativa hereditária de transmissão autossómica dominante que afeta o movimento e conduz a um défice progressivo das capacidades cognitivas e comportamentais. Cuidar um doente de Huntington é um processo complexo e exigente com um grande impacto na saúde, bem-estar e qualidade de vida do cuidador informal. Objetivo: Avaliar o impacto da DH na Qualidade de Vida do Cuidador Informal, e verificar em que medida as variáveis sociodemográficas, contextuais e clínicas se relacionam com essa Qualidade de Vida. Metodologia: Trata-se de um estudo quantitativo, não experimental, transversal numa lógica de análise descritivo-correlacional com 50 Cuidadores Informais de nacionalidade espanhola, membros da "Asociación de Corea de Huntington Española" - ACHE. Utilizamos a versão espanhola do questionário: Huntington's Disease Quality of Life Battery for Carers (HDQoLC) como instrumento de colheita de dados especifico para a avaliação da QDV dos Cuidadores de Doentes de Huntington . Resultados: Os participantes são na sua maioria do sexo feminino (68%), com uma media de idades de 50,04 anos, casados (72%) com elevado grau de literacia (52%) e no ativo (72%). São essencialmente cônjuges da pessoa dependente (52%) ou filhos(as) (28%). Os resultados sugerem que os CI possuem uma QDV moderada (53%) na qual os "aspetos práticos do cuidar", ou seja, o papel de cuidador, tem grande impacto na QDV (43%) a "satisfação com a vida e os "sentimentos sobre a vida com DH" parecem atenuar esta sobrecarga. Os dados obtidos revelam que as variáveis que influenciaram significativamente a Qualidade de Vida total são: as habilitações literárias e o número de horas de cuidados diários. No entanto podemos afirmar que a idade, tempo como CI e os motivos que levaram a assumir o papel de cuidador, tem uma relação expressiva com a dimensão "aspetos práticos do cuidar" da QDV. Conclusões: Os resultados reforçam a multidimensionalidade e variabilidade da qualidade de vida dos cuidadores informais de Doentes de Huntington e evidenciam a necessidade dos profissionais de saúde apostarem em programas de intervenção na comunidade, de forma a implementar estratégias de apoio que minimizem as dificuldades sentidas, aumentem a capacidade para a prestação de cuidados e que promovam a qualidade de vida dos que cuidam.
Introduction: Huntington's disease (HD) is an inherited neurodegenerative disease of autosomal dominant transmission pattern which affects the movement and leads to the progressive cognitive deficits and behavioral capacities. Care for a Huntington patient is a complex and demanding process with a major impact on health, well-being and quality of life of Informal Caregivers (IC). Objective: To evaluate the impact of HD in the Quality of Life Informal Caregiver, and to verify to what extent the socio-demographic, contextual and clinical variables relate to that Quality of life. Methodology: This is a quantitative study, non-experimental, transversal in a logic of descriptive and correlational analysis of 50 Informal Caregivers of Spanish nationality, members of the "Asociación de Corea de Huntington Española " - ACHE. We used the Spanish version of the questionnaire: Huntington's Disease Quality of Life (QoL) Battery for Carers (HDQoL-C) as specific the data collection instrument for assessing QoL of Huntington's Patients' Caregivers. Results: The participants are mostly female (68%), averaging 50.04 years of age, married (72%) with a high level of literacy (52%) and active (72%). Essentially spouses of the dependent person (52%) or children (male or female) (28%). The results suggest that IC have a moderate QoL (53%) in which the "practical aspects of care", i.e., caregiver role, has great impact on QoL (43%) considering "life satisfaction" and "feelings about life with HD" which appear to alleviate this burden. Data showed that the variables that significantly influenced the overall Quality of Life are: the educational level and the number of hours of daily care. However, we can say that the age, time spent as an IC and the reasons to assume the role of caregiver have a significant relationship with the dimension of the "practical aspects of care" of QoL. Conclusions: The results reinforce the multidimensionality and variability of quality of life of the Huntington's patients Informal Caregivers and highlight the need for health professionals to take a chance on intervention programs in the community, in order to implement strategies to support and minimize these difficulties, increase the capability to care and promote the quality of life of those who care.
Assuntos
Qualidade de Vida , Pessoal de Saúde , Doença de HuntingtonRESUMO
Previous studies have suggested that shame memories can have a pervasive impact on depression symptoms, and avoidant-focused processes may play a mediating role. In addition, it is stated in Acceptance and Commitment Therapy (ACT) literature that experiential avoidance is a consequence of cognitive fusion. This study aims to explore the role of cognitive fusion and experiential avoidance in the relationship between shame memories (with caregivers and traumatic shame memories with others) and depression symptoms. In order to do that, we used Structural Equation Modeling to conduct a path analysis in a sample of 181 subjects of the general population. Our results add new information on the processes through which shame memories impacts on both experiential avoidance and depression symptoms. It is suggested that shame memories are not itself pervasive, but the entanglement with painful internal experiences (cognitive fusion) and/or the attempts to control them (experiential avoidance). This suggests the importance of planning an intervention that targets these processes when dealing with shame memories, particularly in patients with depression symptoms (AU)
No disponible
Assuntos
Vergonha , Memória , Depressão/diagnóstico , Repressão Psicológica , CogniçãoRESUMO
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., rumination, thought suppression and dissociation) mediate the impact of shame memories and depression symptoms. However, experiential avoidance has been found to mediate the relation between early experience of abuse and psychopathological symptoms. Our goal was to test the mediating effect of experiential avoidance in the relation between both the nature of shame experiences at the hands of caregivers and the centrality of shame memories with others, and depression symptoms. METHOD: Using structural equation modelling, we assessed the frequency and nature of recalled shame experiences at the hands of caregivers, the centrality of shame experiences with others throughout childhood and adolescence, experiential avoidance and depression symptomatology in 161 participants from general population. RESULTS: Experiential avoidance mediates the impact of shame experiences with caregivers and depression symptoms. Experiential avoidance also mediated the association between the centrality of shame experiences with others and depression symptoms. CONCLUSION: Our results suggest that shame memories with others do not per se impact on depression symptoms, but rather the unwillingness to experience them and the attempts to control them. Hence, our results emphasize the importance of addressing affect regulation processes such as avoidance when dealing with shame memories, particularly with patients who experience depression symptoms. KEY PRACTITIONER MESSAGE: The recall of shame experiences with caregivers is associated with the experience of depression symptoms, even when these experiences are not perceived as central points to one's life identity and story. This seems to suggest a necessity to explore these experiences in a therapeutic setting. Our findings suggest that experiential avoidance is a key process through which these memories of shame experiences impact on depression symptomatology. Hence, it seems to be of great importance to reduce experiential avoidance and help people change the way they relate with these memories.
Assuntos
Adaptação Psicológica , Depressão/psicologia , Memória , Vergonha , Adulto , Feminino , Humanos , Masculino , Autoimagem , Inquéritos e QuestionáriosRESUMO
The aim of the following paper was to adapt and validate the Portuguese version of the Acceptance and Action Questionnaire- II (AAQ-II), which measures Psychological Flexibility/Inflexibility, central components in Acceptance and Commitment Therapy. We assessed the psychometric properties of this scale in both general population and clinical samples. Exploratory Factor Analysis supported a single-factor structure with seven items and results from a Confirmatory Factor Analysis showed the goodness of fit of the model. This version also demonstrated a good level of internal consistency and good convergent and discriminant validity. Overall, the results stressed out that this Portuguese version of AAQ-II is a consistent and valid scale (AU)
No disponible
Assuntos
Humanos , Psicometria/instrumentação , Maleabilidade , Escalas de Graduação Psiquiátrica , Desejabilidade Social , Estudos de Casos e Controles , Determinação da PersonalidadeRESUMO
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. This review article describes some features of medical history and physical examination that help in this differentiation. The role of diagnostic tests is also examined.