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1.
Eur J Endocrinol ; 184(4): 575-585, 2021 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33606663

RESUMO

OBJECTIVE: Transient neonatal diabetes mellitus (TNDM) is caused by activating mutations in ABCC8 and KCNJ11 genes (KATP/TNDM) or by chromosome 6q24 abnormalities (6q24/TNDM). We wanted to assess whether these different genetic aetiologies result in distinct clinical features. DESIGN: Retrospective analysis of the Italian data set of patients with TNDM. METHODS: Clinical features and treatment of 22 KATP/TNDM patients and 12 6q24/TNDM patients were compared. RESULTS: Fourteen KATP/TNDM probands had a carrier parent with abnormal glucose values, four patients with 6q24 showed macroglossia and/or umbilical hernia. Median age at diabetes onset and birth weight were lower in patients with 6q24 (1 week; -2.27 SD) than those with KATP mutations (4.0 weeks; -1.04 SD) (P = 0.009 and P = 0.007, respectively). Median time to remission was longer in KATP/TNDM than 6q24/TNDM (21.5 weeks vs 12 weeks) (P = 0.002). Two KATP/TNDM patients entered diabetes remission without pharmacological therapy. A proband with the ABCC8/L225P variant previously associated with permanent neonatal diabetes entered 7-year long remission after 1 year of sulfonylurea therapy. Seven diabetic individuals with KATP mutations were successfully treated with sulfonylurea monotherapy; four cases with relapsing 6q24/TNDM were treated with insulin, metformin or combination therapy. CONCLUSIONS: If TNDM is suspected, KATP genes should be analyzed first with the exception of patients with macroglossia and/or umbilical hernia. Remission of diabetes without pharmacological therapy should not preclude genetic analysis. Early treatment with sulfonylurea may induce long-lasting remission of diabetes in patients with KATP mutations associated with PNDM. Adult patients carrying KATP/TNDM mutations respond favourably to sulfonylurea monotherapy.


Assuntos
Diabetes Mellitus , Doenças do Recém-Nascido , Conjuntos de Dados como Assunto , Diabetes Mellitus/classificação , Diabetes Mellitus/congênito , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/genética , Diabetes Mellitus/terapia , Diagnóstico Diferencial , Técnicas de Diagnóstico Endócrino/normas , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/terapia , Itália , Masculino , Mutação , Canais de Potássio Corretores do Fluxo de Internalização/genética , Indução de Remissão/métodos , Estudos Retrospectivos , Receptores de Sulfonilureias/genética
2.
Neuropediatrics ; 52(2): 73-83, 2021 04.
Artigo em Inglês | MEDLINE | ID: mdl-33291160

RESUMO

Seizures are the most common neurological emergency in the neonates, and this age group has the highest incidence of seizures compared with any other period of life. The author provides a narrative review of recent advances in the genetics of neonatal epilepsies, new neonatal seizure classification system, diagnostics, and treatment of neonatal seizures based on a comprehensive literature review (MEDLINE using PubMED and OvidSP vendors with appropriate keywords to incorporate recent evidence), personal practice, and experience. Knowledge regarding various systemic and postzygotic genetic mutations responsible for neonatal epilepsy has been exploded in recent times, as well as better delineation of clinical phenotypes associated with rare neonatal epilepsies. An International League Against Epilepsy task force on neonatal seizure has proposed a new neonatal seizure classification system and also evaluated the specificity of semiological features related to particular etiology. Although continuous video electroencephalogram (EEG) is the gold standard for monitoring neonatal seizures, amplitude-integrated EEGs have gained significant popularity in resource-limited settings. There is tremendous progress in the automated seizure detection algorithm, including the availability of a fully convolutional neural network using artificial machine learning (deep learning). There is a substantial need for ongoing research and clinical trials to understand optimal medication selection (first line, second line, and third line) for neonatal seizures, treatment duration of antiepileptic drugs after cessation of seizures, and strategies to improve neuromorbidities such as cerebral palsy, epilepsy, and developmental impairments. Although in recent times, levetiracetam use has been significantly increased for neonatal seizures, a multicenter, randomized, blinded, controlled phase IIb trial confirmed the superiority of phenobarbital over levetiracetam in the acute suppression of neonatal seizures. While there is no single best choice available for the management of neonatal seizures, institutional guidelines should be formed based on a consensus of local experts to mitigate wide variability in the treatment and to facilitate early diagnosis and treatment.


Assuntos
Epilepsia , Doenças do Recém-Nascido , Guias de Prática Clínica como Assunto , Convulsões , Epilepsia/classificação , Epilepsia/diagnóstico , Epilepsia/genética , Epilepsia/terapia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças do Recém-Nascido/terapia , Convulsões/classificação , Convulsões/diagnóstico , Convulsões/genética , Convulsões/terapia
4.
Pediatr Res ; 88(Suppl 1): 16-20, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32855507

RESUMO

One of the many challenges with necrotizing enterocolitis (NEC) remains our inability to make an accurate diagnosis of NEC. The lack of a unifying cause and multiple variations in presentations lead to great uncertainty with NEC. Separating out the needs of the researcher wanting to define NEC from the clinician and patient family's perspectives who want an accurate diagnosis for NEC is important. The need to augment and/or replace the outdated modified Bell staging criteria is crucial to improving NEC management. Emerging literature suggests that genetic susceptibility and stool microbiota signatures may help identify preterm infants at increased risk of the disease. Ongoing studies using single or multi-omic approaches may help to characterize biomarkers that will aid in the prediction or early diagnosis of NEC, as well as differentiate other causes of severe bowel injury. Bowel ultrasound shows promise in improving our diagnostic accuracy for NEC but has been slow in adoption. Patient family perspectives are key in accelerating our efforts to integrate newer diagnostic methods into practice.


Assuntos
Enterocolite Necrosante/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Doenças do Prematuro/diagnóstico , Biomarcadores , Progressão da Doença , Enterocolite Necrosante/classificação , Enterocolite Necrosante/diagnóstico por imagem , Enterocolite Necrosante/genética , Fezes , Microbioma Gastrointestinal , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico por imagem , Doenças do Recém-Nascido/genética , Recém-Nascido Prematuro , Doenças do Prematuro/classificação , Doenças do Prematuro/diagnóstico por imagem , Doenças do Prematuro/genética , Intestinos/diagnóstico por imagem , Intestinos/patologia , Aprendizado de Máquina , Neonatologia/normas , Reprodutibilidade dos Testes , Risco , Sensibilidade e Especificidade , Resultado do Tratamento , Ultrassonografia
5.
Pediatr Res ; 88(Suppl 1): 10-15, 2020 08.
Artigo em Inglês | MEDLINE | ID: mdl-32855506

RESUMO

Necrotizing enterocolitis (NEC) is a leading cause of morbidity and mortality in hospitalized infants. First classified through Bell staging in 1978, a number of additional definitions of NEC have been proposed in the subsequent decades. In this review, we summarize eight current definitions of NEC, and explore similarities and differences in clinical signs and radiographic features included within these definitions, as well as their limitations. We highlight the importance of a global consensus on defining NEC to improve NEC research and outcomes, incorporating input from participants at an international NEC conference. We also highlight the important role of patient-families in helping to redefine NEC.


Assuntos
Enterocolite Necrosante/diagnóstico , Doenças do Recém-Nascido/diagnóstico , Doenças do Prematuro/diagnóstico , Centers for Disease Control and Prevention, U.S. , Consenso , Enterocolite Necrosante/classificação , Feminino , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Recém-Nascido Prematuro , Doenças do Prematuro/classificação , Masculino , Neonatologia/normas , Risco , Fatores de Risco , Reino Unido , Estados Unidos
6.
J Perinat Med ; 48(7): 687-693, 2020 Sep 25.
Artigo em Inglês | MEDLINE | ID: mdl-32621734

RESUMO

Objectives Our aim was to study the association of clinical variables obtainable before delivery for severe neonatal outcomes (SNO) and develop a clinical tool to calculate the prediction probability of SNO in preterm prelabor rupture of membranes (PPROM). Methods This was a prospective study from October 2015 to May 2018. We included singleton pregnancies with PPROM and an estimated fetal weight (EFW) two weeks before delivery. We excluded those with fetal anomalies or fetal death. We examined the association between SNO and variables obtainable before delivery such as gestational age (GA) at PPROM, EFW, gender, race, body mass index, chorioamnioitis. SNO was defined as having at least one of the following: respiratory distress syndrome, intraventricular hemorrhage, necrotizing enterocolitis, neonatal sepsis, or neonatal death. The most parsimonious logistic regression models was constructed using the best subset selection model approach, and receiver operator curves were utilized to evaluate the prognostic accuracy of these clinical variables for SNO. Results We included 106 pregnancies, 42 had SNO (39.6%). The EFW (area under the receiver operating characteristic curve [AUC]=0.88) and GA at PPROM (AUC=0.83) were significant predictors of SNO. The addition of any of the other variables did not improve the predictive probability of EFW for the prediction of SNO. Conclusions The EFW had the strongest association with SNO in in our study among variables obtainable before delivery. Other variables had no significant effect on the prediction probability of the EFW. Our findings should be validated in larger studies.


Assuntos
Parto Obstétrico , Ruptura Prematura de Membranas Fetais , Peso Fetal , Doenças do Recém-Nascido , Adulto , Parto Obstétrico/métodos , Parto Obstétrico/estatística & dados numéricos , Feminino , Ruptura Prematura de Membranas Fetais/diagnóstico , Ruptura Prematura de Membranas Fetais/epidemiologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/epidemiologia , Masculino , Valor Preditivo dos Testes , Gravidez , Resultado da Gravidez/epidemiologia , Terceiro Trimestre da Gravidez , Prognóstico , Estudos Prospectivos , Medição de Risco/métodos , Fatores de Risco , Ultrassonografia Pré-Natal/métodos , Ultrassonografia Pré-Natal/estatística & dados numéricos , Estados Unidos/epidemiologia
7.
Medicine (Baltimore) ; 99(18): e19961, 2020 May.
Artigo em Inglês | MEDLINE | ID: mdl-32358367

RESUMO

This study aimed to investigate blood transfusion rates and spectrum of diseases in hospitalized neonates treated with blood transfusion in China to provide supporting data for future studies on neonatal blood transfusion.Data on hospitalized neonates were obtained from more than 100 experts from the Department of Neonatology of 55 hospitals in China between January 1, 2012 and December 31, 2016, using a standardized survey. A statistical analysis was conducted to evaluate the data collected, including the blood transfusion rates, blood component transfused, spectrum of diseases, and spectrum of major diseases.Between 2012 and 2016, 541,128 neonates were hospitalized in the 55 hospitals surveyed. There were 70,433 neonates who received blood transfusion, with an average transfusion rate of 13.02%. The rates of red blood cell transfusion, platelet transfusion, and plasma transfusion were 9.44%, 0.66%, and 4.77%, respectively. The neonatal blood transfusion rate was 17.99% in Northeast China, 9.74% in Northwest China, and between 10.60% and 16.22% in other regions. The neonatal blood transfusion rate was 12.3% in general hospitals and 13.8% in women and children's hospitals. The top 10 diseases identified in hospitalized neonates treated by blood transfusion were, in rank order, as follows:prematurity,pneumonia, hyperbilirubinemia, bacterial sepsis, respiratory distress syndrome, anemia, hemolytic disease, asphyxia, hemorrhage, and necrotizing enterocolitis.The neonatal blood transfusion rate in China is 13.03%.The rank order in the disease spectrum of the hospitalized neonates and that in hospitalized neonates treated with blood transfusion are different.


Assuntos
Transfusão de Sangue/estatística & dados numéricos , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/terapia , Transfusão de Componentes Sanguíneos/estatística & dados numéricos , China/epidemiologia , Hospitais Gerais/estatística & dados numéricos , Maternidades/estatística & dados numéricos , Humanos , Recém-Nascido , Características de Residência
8.
J Clin Res Pediatr Endocrinol ; 12(3): 275-280, 2020 09 02.
Artigo em Inglês | MEDLINE | ID: mdl-31990163

RESUMO

Objective: The tendency to reduce thyroid stimulating hormone (TSH) referral cut-off values in congenital hypothyroidism (CH) neonatal screening programs has resulted in an increase in the incidence of CH, but also the referral of infants with mild transient elevation of TSH. Therefore, there is a need to develop markers for differentiation of transient elevated TSH and permanent CH as early as safely possible to avoid unnecessary treatment. The aim was to evaluate sixth-month L-thyroxine (LT4) dose as a predictive marker for differentiation of transient elevated TSH and permanent CH. Methods: Data of patients who had been followed after referral from the neonatal screening programme between the year 2010 and 2019 in a tertiary pediatric endocrine centre were examined retrospectively. Results: There were 226 cases referred, of whom 186 (82.3%) had eutopic thyroid gland, and 40 (17.7%) had dysgenetic gland. In patients with a dysgentic gland there was a non-significant tendency to have lower diagnostic free thyroxine concentration but significantly higher TSH compared with those with eutopic gland (p=0.44 and p=0.023, respectively). Patients with thyroid dysgenesis required higher initial and six month LT4 doses compared with those with eutopic glands (p=0.001). Receiver operator curve analysis showed the optimum cut-off value for LT4 at six months for transient vs. permanent CH was 2 µg/kg/day (sensitivity 77% and specificity 55%), regardless of etiology. Similarly, in patients with eutopic glands the optimum cut-off value for LT4 dose at six months for permanent vs. transient patients was 2 µg/kg/day (sensitivity 72% and specificity 54%). Conclusion: Results suggest that LT4 requirement at six months of therapy may be a good marker for predicting transient TSH elevation in patients with eutopic thyroid gland, thus facilitating the decision to halt LT4 therapy.


Assuntos
Hipotireoidismo Congênito/diagnóstico , Hipotireoidismo/diagnóstico , Testes de Função Tireóidea/métodos , Tiroxina/administração & dosagem , Fatores Etários , Diagnóstico Diferencial , Esquema de Medicação , Feminino , Seguimentos , Humanos , Hipotireoidismo/classificação , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Masculino , Triagem Neonatal/normas , Valor Preditivo dos Testes , Reprodutibilidade dos Testes , Estudos Retrospectivos
9.
Pediatr Res ; 87(7): 1231-1236, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31835270

RESUMO

INTRODUCTION: Data regarding neonatal arterial ischemic stroke (NAIS) topography are still sparse and inaccurate. Despite the importance of locating NAIS to predict the long-term outcome of neonates, a map of arterial territories is not yet available. Our aim was therefore to generate the first three-dimensional map of arterial territories of the neonatal brain (ATNB) and test its usefulness. METHODS: Three-dimensional time-of-flight magnetic resonance angiography images were acquired from four neonates without NAIS. Arteries were semi-automatically segmented to build a symmetric arterial template. This allowed us to delineate the volumetric extension of each arterial territory, giving rise to the ATNB map, which is publicly available. Its applicability was tested on a sample of 34 neonates with NAIS. RESULTS: After applying the ATNB map to the neonatal sample, the posterior trunk of the middle cerebral artery, followed by its anterior trunk, were identified as the most affected arterial territories. When comparing the results obtained employing the map with the original diagnoses made during the standard clinical evaluation of NAIS, major diagnostic errors were found in 18% of cases. CONCLUSION: The ATNB map has been proven useful to precisely identify the arterial territories affected by an NAIS, as well as to increase the accuracy of clinical diagnoses.


Assuntos
Artérias Cerebrais/diagnóstico por imagem , Doenças do Recém-Nascido/classificação , AVC Isquêmico/diagnóstico por imagem , Automação , Mapeamento Encefálico/métodos , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Masculino
10.
Curr Diabetes Rev ; 16(8): 807-819, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-31886753

RESUMO

BACKGROUND: Diabetes mellitus (DM) is a complex disease with significant impression in today's world. Aside from the most common types recognized over the years, such as type 1 diabetes (T1DM) and type 2 diabetes (T2DM), recent studies have emphasized the crucial role of genetics in DM, allowing the distinction of monogenic diabetes. METHODS: Authors did a literature search with the purpose of highlighting and clarifying the subtypes of monogenic diabetes, as well as the accredited genetic entities responsible for such phenotypes. RESULTS: The following subtypes were included in this literature review: maturity-onset diabetes of the young (MODY), neonatal diabetes mellitus (NDM) and maternally inherited diabetes and deafness (MIDD). So far, 14 subtypes of MODY have been identified, while three subtypes have been identified in NDM - transient, permanent, and syndromic. DISCUSSION: Despite being estimated to affect approximately 2% of all the T2DM patients in Europe, the exact prevalence of MODY is still unknown, accentuating the need for research focused on biomarkers. Consequently, due to its impact in the course of treatment, follow-up of associated complications, and genetic implications for siblings and offspring of affected individuals, it is imperative to diagnose the monogenic forms of DM accurately. CONCLUSION: Currently, advances in the genetics field allowed the recognition of new DM subtypes, which until now, were considered slight variations of the typical forms. Thus, it is imperative to act in the close interaction between genetics and clinical manifestations, to facilitate diagnosis and individualize treatment.


Assuntos
Diabetes Mellitus Tipo 1/genética , Diabetes Mellitus Tipo 2/classificação , Diabetes Mellitus Tipo 2/genética , Surdez/classificação , Surdez/diagnóstico , Surdez/genética , Diabetes Mellitus Tipo 1/diagnóstico , Diabetes Mellitus Tipo 2/diagnóstico , Testes Genéticos , Genótipo , Humanos , Lactente , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico , Doenças do Recém-Nascido/genética , Doenças Mitocondriais/classificação , Doenças Mitocondriais/diagnóstico , Doenças Mitocondriais/genética , Mutação , Fenótipo , Medicina de Precisão , Síndrome
11.
Obstet Gynecol ; 134(5): 1005-1016, 2019 11.
Artigo em Inglês | MEDLINE | ID: mdl-31599849

RESUMO

OBJECTIVE: To evaluate the association between Hurricane Harvey landfall with maternal and neonatal morbidity. METHODS: Using an institutional perinatal database from two hospitals in Houston, Texas, women with nonanomalous singletons delivering after 24 weeks of gestation between August 2011 and June 2018 were included. To evaluate the possible association of hurricane landfall with pregnancy outcomes, gravid women delivering within 280 days (40 weeks of gestation) on or after August 25, 2017 (the day of hurricane landfall) were categorized as exposed, and women who delivered before August 25, 2017, were the reference group. Composite maternal morbidity included any of the following: hypertensive disorders of pregnancy, chorioamnionitis, endometritis, blood transfusion, peripartum hysterectomy, maternal critical care admission, pulmonary edema, or maternal death. Composite neonatal morbidity included any of the following: 5-minute Apgar score 3 or less, respiratory distress syndrome, use of ventilator or continuous positive airway pressure, suspected newborn sepsis, seizure, stillbirth, or neonatal death. Adjusted odds ratios (aORs) were calculated after correcting for possible confounders identified on univariate analysis. Disruption in outcome trends were measured in time series analyses. RESULTS: Of 40,502 deliveries in our database, 29,179 (72%) met the inclusion criteria, with 3,842 (13.2%) delivering within 280 days of Hurricane Harvey landfall. Women delivering after Hurricane Harvey were on average less likely to be obese and more likely to be older, Caucasian, married, have a household income higher than $75,000, a high school education, and private insurance. However, compared with the cohort of gravid patients who delivered before Hurricane Harvey, composite maternal morbidity increased by 27% (11.5% vs 14.7%, aOR 1.27, 95% CI 1.14-1.42) after the storm. Composite neonatal morbidity increased by 50% (7.8% vs 11.9%, aOR 1.52, 95% CI 1.34-1.71). In time series analyses, we observed a significant shift in composite maternal morbidity specific to women of low socioeconomic status (estimate 2.87, P=.028). CONCLUSION: Despite having fewer at-risk baseline characteristics, gravid patients delivering after landfall by Hurricane Harvey had a significantly higher likelihood of adverse outcomes as did their neonates.


Assuntos
Tempestades Ciclônicas , Doenças do Recém-Nascido , Complicações na Gravidez , Resultado da Gravidez/epidemiologia , Adulto , Bases de Dados Factuais/estatística & dados numéricos , Feminino , Idade Gestacional , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/epidemiologia , Masculino , Mortalidade Materna , Desastres Naturais , Gravidez , Complicações na Gravidez/classificação , Complicações na Gravidez/epidemiologia , Fatores de Risco , Texas/epidemiologia
12.
BMC Pregnancy Childbirth ; 19(1): 249, 2019 Jul 16.
Artigo em Inglês | MEDLINE | ID: mdl-31311547

RESUMO

BACKGROUND: In April 2012 our institution chose to switch from a two- step criteria for Gestational Diabetes Mellitus (GDM) screening, to the International Association of Diabetes in Pregnancy Study Group (IADSPG) criteria. This shift led to an increased prevalence of GDM in our pregnant population. We designed a study in order to estimate the magnitude of the increase in GDM prevalence before and after the switch in screening strategy. As a secondary objective we wanted to evaluate if there was a significant difference between the two periods in the percentage of maternal and neonatal complications such as gestational hypertensive disorders (GHD), primary cesarean section (pCS), preterm birth, large for gestational age (LGA) newborns, macrosomia, shoulder dystocia, 5' Apgar score less than to 7 at birth, neonatal intensive care unit (NICU) transfer and neonatal hypoglycemia. METHODS: We selected retrospectively 3496 patients who delivered between January 2009 and December 2011 who were screened with the two-step criteria (group A), and compared them to 2555 patients who delivered between January 2013 and December 2014 and who were screened with IADPSG criteria (Group B). We checked patients' electronic files to establish GDM status, baseline characteristics (age, body mass index, nationality, parity) and the presence of maternal and neonatal complications. RESULTS: GDM prevalence increased significantly from group A (3.4%; 95%CI 2.8-4.06%) to group B (16.28%; 95%CI 14.8 -17.7%). In group B there were significantly more non-Belgian and primiparous patients. There was no statistically significant difference in maternal and neonatal complications between the two groups, even after adjustment for nationality and parity. There was a non-significant reduction of the proportion of macrosomic and of LGA babies. CONCLUSIONS: In our population the introduction of IADPSG screening criteria has increased the prevalence of GDM without having a statistically significant impact on pregnancy outcomes.


Assuntos
Diabetes Gestacional , Programas de Triagem Diagnóstica , Doenças do Recém-Nascido/epidemiologia , Programas de Rastreamento , Complicações do Trabalho de Parto/epidemiologia , Adulto , Bélgica/epidemiologia , Diabetes Gestacional/diagnóstico , Diabetes Gestacional/epidemiologia , Programas de Triagem Diagnóstica/normas , Programas de Triagem Diagnóstica/estatística & dados numéricos , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Masculino , Programas de Rastreamento/métodos , Programas de Rastreamento/organização & administração , Complicações do Trabalho de Parto/classificação , Gravidez , Resultado da Gravidez/epidemiologia , Cuidado Pré-Natal/métodos , Cuidado Pré-Natal/normas , Prevalência , Estudos Retrospectivos
13.
Handb Clin Neurol ; 162: 347-361, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31324320

RESUMO

The first weeks of life are a time of heightened risk for seizures due to age-dependent physiologic features of the developing brain that lead to increased neuronal excitation and decreased inhibition. Usually, seizures in neonates are a symptom of an acute brain injury; seizures are only rarely due to neonatal-onset epilepsy syndromes. Neonatal seizures are harmful to the developing brain; early and accurate diagnosis is critical. For suspected seizures, EEG monitoring should be initiated as soon as is feasible, in order to evaluate for events of concern, screen for subclinical seizures, and assess the EEG background. Amplitude-integrated EEG can provide excellent complementary data, particularly with regard to evolution of background patterns, but has limited sensitivity to detect individual neonatal seizures. An urgent and systematic approach to precise etiologic diagnosis is key for optimal management and estimates of prognosis. Evaluation of the seizure etiology must occur in parallel with initiation of appropriate treatment. It is critical that neonatologists and neurologists develop hospital-specific, consensus-based practice pathways for neonatal seizure evaluation and treatment. Such practice pathways can streamline medical decision making, facilitate rapid medication administration, and potentially decrease seizure burden and optimize outcomes. Herein, the pathophysiology, epidemiology, treatment, and long-term management considerations for neonatal seizures are presented.


Assuntos
Convulsões/classificação , Convulsões/congênito , Adulto , Eletroencefalografia , Feminino , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/terapia , Gravidez , Convulsões/epidemiologia , Convulsões/terapia
14.
Hellenic J Cardiol ; 59(3): 155-159, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-28873334

RESUMO

OBJECTIVE: Pregnancies in patients with adult congenital heart disease (ACHD) are often complicated. We aimed to highlight the nature and the rate of these complications in a single-center patient population. METHODS: We retrospectively studied all the pregnancies of women who presented on an outpatient basis, and all pregnancies were reviewed for maternal and fetal outcomes. RESULTS: Of 117 pregnancies from 52 ACHD patients (age at pregnancy 28.3 ± 6.6 years), 10 were therapeutically aborted. A proportion of 41.1% of the remaining 107 pregnancies were complicated either with cardiac (3.7%), obstetric (15.0%), or fetal/neonatal (11.2%) adverse events or with spontaneous abortion (17.8%). Hospitalization during pregnancy was required in 10 patients. Elective cesarean sections were initially planned for 31% of the 87 pregnancies, which were finally completed, while 8% required an emergency cesarean section, mostly for obstetric reasons. NYHA class deterioration after pregnancy was detected in 9.3% of our cohort. Modified WHO class III/IV, prior medication use, and higher body mass index (BMI) were related to cardiac complications during pregnancy or NYHA deterioration. CONCLUSION: Pregnancies in ACHD patients are at high risk for complications. Advanced modified WHO class, prior medication use, and high BMI were related to adverse cardiac events.


Assuntos
Aborto Induzido/estatística & dados numéricos , Aborto Espontâneo , Cesárea/estatística & dados numéricos , Cardiopatias Congênitas , Doenças do Recém-Nascido , Complicações Cardiovasculares na Gravidez/epidemiologia , Aborto Espontâneo/epidemiologia , Aborto Espontâneo/etiologia , Adulto , Índice de Massa Corporal , Procedimentos Cirúrgicos Eletivos/métodos , Procedimentos Cirúrgicos Eletivos/estatística & dados numéricos , Feminino , Grécia/epidemiologia , Cardiopatias Congênitas/classificação , Cardiopatias Congênitas/complicações , Cardiopatias Congênitas/epidemiologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/epidemiologia , Doenças do Recém-Nascido/etiologia , Gravidez , Gravidez de Alto Risco , Estudos Retrospectivos , Medição de Risco/métodos
15.
J Perinat Med ; 46(2): 197-202, 2018 Feb 23.
Artigo em Inglês | MEDLINE | ID: mdl-28753550

RESUMO

OBJECTIVE: We examined the causes of death amongst full term stillbirths and early neonatal deaths. METHODS: Our cohort includes women in the Region of Southern Denmark, who gave birth at full term to a stillborn infant or a neonate who died within the first 7 days from 2010 through 2014. Demographic, biometric and clinical variables were analyzed to assess the causes of death using two classification systems: causes of death and associated conditions (CODAC) and a Danish system based on initial causes of fetal death (INCODE). RESULTS: A total of 95 maternal-infant cases were included. Using the CODAC and INCODE classification systems, we found that the causes of death were unknown in 59/95 (62.1%). The second most common cause of death in CODAC was congenital anomalies in 10/95 (10.5%), similar to INCODE with fetal, genetic, structural and karyotypic anomalies in 11/95 (11.6%). The majority of the mothers were healthy, primiparous, non-smokers, aged 20-34 years and with a normal body mass index (BMI). CONCLUSION: Based on an unselected cohort from an entire region in Denmark, the cause of stillbirth and early neonatal deaths among full term infants remained unknown for the vast majority.


Assuntos
Causas de Morte , Doenças do Recém-Nascido , Morte Perinatal/etiologia , Natimorto/epidemiologia , Adulto , Estudos de Coortes , Dinamarca/epidemiologia , Feminino , Humanos , Lactente , Mortalidade Infantil , Recém-Nascido , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/mortalidade , Assistência Perinatal/estatística & dados numéricos , Gravidez , Cuidado Pré-Natal/estatística & dados numéricos , Nascimento a Termo
16.
West Indian med. j ; 67(spe): 404-409, 2018.
Artigo em Inglês | LILACS | ID: biblio-1045889

RESUMO

ABSTRACT Objective: To define the spectrum of medical disorders managed on the neonatal unit at the University Hospital of the West Indies (UHWI) over the past two decades. Method: A review of published data pertaining to neonatal medical disorders managed at the UHWI over the past 20 years was conducted. Pertinent findings, implications of these findings and recommendations based on these findings were collated and presented under themes. Results: Common medical disorders managed includes complications of prematurity and very low birthweight infants, neonatal sepsis, hypoxic ischaemic encephalopathy, meconium aspiration syndrome, neonatal jaundice, hypernatraemic dehydration, complications of macrosomia and complications resulting from neonatal transport. Conclusion: It is clear that a diverse spectrum of neonatal disorders is managed on the neonatal unit of the UHWI and that the fledgling neonatal unit providing basic care for neonates of the 1960s has matured into the level II Newborn Special Care Nursery and Level III NICU that it is today. The time is now opportune for Neonatology to gain independent status as a Division of Neonatology within the Department of Child and Adolescent Health at the UHWI.


RESUMEN Objetivo: Definir el espectro de trastornos médicos tratados en la Unidad Neonatal del Hospital Universitario de West Indies (UHWI) en las últimas dos décadas. Método: Se realizó una revisión de los datos publicados sobre los trastornos médicos neonatales tratados en UHWI durante los últimos 20 años. Los hallazgos pertinentes, las implicaciones de estos hallazgos y las recomendaciones basadas en estos hallazgos fueron recopiladas y presentadas en temas. Resultados: Los trastornos médicos comunes tratados incluyen complicaciones de la prematuridad y los neonatos de muy bajo peso al nacer, sepsis neonatal, encefalopatía isquémica, síndrome de aspiración de meconio, ictericia neonatal, deshidratación hipernatrémica, complicaciones de macrosomía y las complicaciones resultantes del transporte neonatal. Conclusión: Está claro que un espectro diverso de trastornos neonatales es tratado en la Unidad Neonatal de UHWI, y que la unidad neonatal incipiente que proporcionó atención básica a los neonatos de los años 60 ha madurado, llegando a ser hoy la Sala de Atención Especial a Neonatos de Nivel II y la Unidad de Cuidados Intensivos Neonatales (UCIN) de Nivel III. Es hora ya de que la Neonatología tenga estatus independiente como División de Neonatología dentro del Departamento de Salud de Niños y Adolescentes de UHWI.


Assuntos
Humanos , Recém-Nascido , Hospitais Universitários/estatística & dados numéricos , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/epidemiologia , Jamaica/epidemiologia
17.
Med Image Anal ; 42: 189-199, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-28818743

RESUMO

It is challenging to characterize and classify normal and abnormal brain development during early childhood. To reduce the complexity of heterogeneous data population, manifold learning techniques are increasingly applied, which find a low-dimensional representation of the data, while preserving all relevant information. The neighborhood definition used for constructing manifold representations of the population is crucial for preserving the similarity structure and it is highly application dependent. The recently proposed neighborhood approximation forests learn a neighborhood structure in a dataset based on a user-defined distance. We propose a framework to learn multiple pairwise distances in a population of brain images and to combine them in an unsupervised manner optimally in a manifold learning step. Unlike other methods that only use a univariate distance measure, our method allows for a natural combination of multiple distances from heterogeneous sources. As a result, it yields a representation of the population that preserves the multiple distances. Furthermore, our method also selects the most predictive features associated with the distances. We evaluate our method in neonatal magnetic resonance images of three groups (term controls, patients affected by intrauterine growth restriction and mild isolated ventriculomegaly). We show that combining multiple distances related to the condition improves the overall characterization and classification of the three clinical groups compared to the use of single distances and classical unsupervised manifold learning.


Assuntos
Encefalopatias/classificação , Encefalopatias/diagnóstico por imagem , Interpretação de Imagem Assistida por Computador , Doenças do Recém-Nascido/classificação , Doenças do Recém-Nascido/diagnóstico por imagem , Imageamento por Ressonância Magnética/métodos , Aprendizado de Máquina Supervisionado , Ventrículos Cerebrais/diagnóstico por imagem , Retardo do Crescimento Fetal , Humanos , Recém-Nascido
18.
Investig. enferm ; 19(1)ene.-jun. 2017. tab
Artigo em Espanhol | LILACS, BDENF - Enfermagem, COLNAL | ID: biblio-996324

RESUMO

Introducción: El cuidado del recién nacido pretérmino (RNPT) supone un reto para el personal de enfermería, siendo necesaria la estructuración de un plan de cuidados integral que permita facilitar condiciones similares al estado intrauterino. Para el logro de los objetivos de cuidado en esta población, es perentorio hacer uso del Proceso de Atención de Enfermería (PAE), iniciando por la fase de valoración por dominios de salud que permiten identificar las necesidades reales del RNPT y enunciar diagnósticos de enfermería que orientarán intervenciones individualizadas que representen una mejora en su estado de salud y calidad de vida, y así reconocer las ventajas de esta herramienta desde la práctica formativa. Método: Presentación de un caso clínico de un RNPT al que se le aplicó el formato de valoración por dominios de salud de la Escuela de Enfermería de la Universidad Industrial de Santander (UIS) compuesto por trece (13) dominios que establece la Taxonomía II de la NANDA (Diagnósticos de Enfermería de NANDA International) y adaptado para el recién nacido. Resultados: El uso del PAE, en las etapas de valoración y diagnóstico desde la academia, permitió a los estudiantes determinar cuatro dominios alterados, nueve diagnósticos de enfermería, priorizando uno de ellos de acuerdo a las características definitorias evidenciadas en un caso de estudio. Conclusiones: La valoración por dominios de salud de la taxonomía NANDA-II permitió identificar los diagnósticos de enfermería de este RNPT, desde una mirada global, integrando los componentes teóricos de valoración física en un escenario real de cuidado.


Introduction: The care of the preterm newborn (PNB) is a challenge for nurses. as it is necessary the structuration of a comprehensive care plan which facilitates similar conditions to those of the intrauterine State. To achieve the goals of care in this population, it is imperative to use the Nursing Process, starting with the assessment phase that makes it possible to identify the real needs of preterm infants and State nursing diagnoses which will guide individualized interventions that represent an improve-ment in their health and quality of life, and thus recognize the advantages of this tool from the training practice. Method: Presentation of a clinical case of a PNB to whom was applied the format for valuation of health domains of the School of Nursing at the Industrial University of Santander (UIS) composed by thirteen (13) domains that establish the Taxonomy II of NANDA (NANDA International Nursing Diagnoses) and adapted for the newborn. Results: The use of the Nursing Process, in the stages of assessment and diagnosis from the academy, allowed students to identify four altered domains, nine nursing diagnoses, giving priority to one of them according to the de-fining characteristics evident in a case study. Conclusions: The assessment by health domains from the NANDA Taxonomy II allowed to identify nursing diagnoses of the preterm newborn, from a global perspective, integrating the theoretical components of physical assessment in a real scenario of care.


Introducáo: O cuidado do recém-nascido prematuro (RN) supóe desafio para o pessoal de enfermagem. sendo necessária a estruturacáo de um plano de cuidados abran-gente que irá facilitar condicóes semelhantes ao estado intrauterino. Para atingir as metas de cuidado nesta populacáo é imperativo o uso do Processo de Enfermagem (PE), a iniciar pela fase de valoracáo por dominios de saúde. Eles permitem identificar as necessidades reais do RN e enunciar diagnósticos de enfermagem para orientaren! intervencóes individualizadas que representaráo melhoramento no estado de saúde e qualidade de vida do RN, reconhecendo assim as vantagens desta ferramen-ta desde a prática formativa. Método: Apresentacáo de caso clínico de um RN a que foi aplicado o formato de valoracáo por dominios de saúde da Escola de Enfermagem da Universidade Industrial de Santander (UIS), composto pelos treze (13) dominios que estabelece a Taxonomía II da NANDA (Diagnósticos de Enfermagem de NANDA International) e adaptado para recém-nascido. Resultados: O uso do PE. nos estágios de valoracáo e diagnóstico desde a academia, permitiu os alunos determinar quatro dominios alterados, nove diagnósticos de enfermagem, priorizando um deles de acordo com as características definidoras evidenciadas em um caso de estudo. Conclusóes: A valoracáo por dominios de saúde da taxonomía NANDA-II permitiu identificar os diagnósticos de enfermagem deste RN, desde um olhar global, integrando componentes teóricos de valoraqáo física em um cenário real de cuidado.


Assuntos
Diagnóstico de Enfermagem , Doenças do Recém-Nascido/classificação
19.
Zhongguo Dang Dai Er Ke Za Zhi ; 18(11): 1059-1064, 2016 Nov.
Artigo em Chinês | MEDLINE | ID: mdl-27817765

RESUMO

Nomenclature and classification of diseases are not only related to clinical diagnosis and treatment, but also involved in the fields such as management and exchange of medical information, medical expense payments, and medical insurance payment. In order to standardize clinical physicians' diagnostic and treatment activities, medical records, and the first page of medical records, this article elaborates on the basic principles and methods for nomenclature and classification of diseases with reference to international nomenclature of diseases and international classification of diseases. Meanwhile, in view of the problems in clinical practice, this article proposes the classification of neonatal diseases, the basic procedure and writing rules in the diagnosis of neonatal diseases, and death diagnosis principles.


Assuntos
Doenças do Recém-Nascido/classificação , Classificação Internacional de Doenças , Humanos , Recém-Nascido , Doenças do Recém-Nascido/diagnóstico , Terminologia como Assunto
20.
J Perinatol ; 36(2): 126-31, 2016 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-26562372

RESUMO

OBJECTIVE: To describe the use of double-lumen venovenous (VVDL) extracorporeal membrane oxygenation (ECMO) with cephalic draining cannula (VVDL+V) as a primary approach for all neonatal respiratory diagnoses and to compare our single-center experience with data as collected in the Extracorporeal Life Support Organization (ELSO) database. STUDY DESIGN: We retrospectively reviewed all cases of ECMO for neonatal respiratory failure performed in the neonatal intensive-care unit at a large referral children's hospital, the Children's Healthcare of Atlanta at Egleston (CHOA-E). Comparisons were then made to neonatal respiratory ECMO data retrieved from the ELSO database. RESULTS: At CHOA-E 162 of 189 cases were completed with the VVDL+V approach. Survival in the VVDL+V cohort was 89.1% versus 68.7% from ELSO, P<0.001. For those complications considered, the overall risk of complication favored the CHOA-E VVDL+V group as compared with ELSO (odds ratio (OR) 0.71 (0.52-0.7)) as did the risk of neurologic complications (OR 0.29, (0.15-0.58)), including intracranial hemorrhage (OR 0.39 (0.18-0.97), P=0.011). CONCLUSION: The VVDL+V approach can be used successfully as the primary approach for ECMO for neonatal respiratory failure of various etiologies and in this single-center cohort this approach was associated with improved survival and lower rates of complication as compared with the ELSO database.


Assuntos
Cateterismo Venoso Central , Cateteres Venosos Centrais , Drenagem , Oxigenação por Membrana Extracorpórea , Veias Jugulares/cirurgia , Insuficiência Respiratória/terapia , Cateterismo Venoso Central/efeitos adversos , Cateterismo Venoso Central/métodos , Drenagem/instrumentação , Drenagem/métodos , Oxigenação por Membrana Extracorpórea/efeitos adversos , Oxigenação por Membrana Extracorpórea/métodos , Estudos de Viabilidade , Feminino , Idade Gestacional , Humanos , Recém-Nascido , Doenças do Recém-Nascido/classificação , Masculino , Sistema de Registros , Insuficiência Respiratória/diagnóstico , Insuficiência Respiratória/etiologia , Estudos Retrospectivos , Estados Unidos
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