Abstract:
BACKGROUND:Recurrent and prolonged seizures are harmful for the developing brain, emphasizing the importance of early seizure recognition and effective therapy. Amplitude-integrated electroencephalography (aEEG) has become a valuable tool to diagnose epileptic seizures, and, in parallel, genetic etiologies are increasingly being recognized, changing the paradigm of the workup and management of neonatal seizures. OBJECTIVE:To report the ictal aEEG pattern in neonates with KCNQ2-related epilepsy. SUBJECTS AND METHODS:In this multicenter descriptive study, clinical data and aEEG findings of 9 newborns with KCNQ2 mutations are reported. RESULTS:Refractory seizures occurred in the early neonatal period with similar seizure type, including tonic features, apnea, and desaturation. A distinct aEEG seizure pattern, consisting of a sudden rise of the lower and upper margin of the aEEG, followed by a marked depression of the aEEG amplitude, was found in 8 of the 9 patients. Prompt recognition of this pattern led to early treatment with carbamazepine in the 2 most recent cases. CONCLUSION:Early recognition of the electroclinical phenotype by using aEEG may direct genetic testing and a precision medicine approach with sodium channel blockers in neonates with KCNQ2 mutations.
journal_name
Neonatologyjournal_title
Neonatologyauthors
Vilan A,Mendes Ribeiro J,Striano P,Weckhuysen S,Weeke LC,Brilstra E,de Vries LS,Cilio MRdoi
10.1159/000478651subject
Has Abstractpub_date
2017-01-01 00:00:00pages
387-393issue
4eissn
1661-7800issn
1661-7819pii
000478651journal_volume
112pub_type
杂志文章,多中心研究相关文献
Neonatology文献大全abstract::Treatment of sick neonates originated in maternity and foundling hospitals in the 19th century. Nosocomial infections and difficult logistics of wet-nursing prevented admission of neonates in most children's hospitals well into the 20th century. In this article, 31 hospitals are described, all located in large cities,...
journal_title:Neonatology
pub_type: 历史文章,杂志文章
doi:10.1159/000336285
更新日期:2012-01-01 00:00:00
abstract:BACKGROUND:In the absence of universal screening for congenital cytomegalovirus (cCMV) infection, the aim of this study was to assess the outcomes of a targeted screening protocol based on maternal and neonatal risk indicators. METHODS:The medical records of 2,623 neonates born in our maternal hospital between June 20...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000512525
更新日期:2020-12-22 00:00:00
abstract:BACKGROUND:Premature birth is a significant health care burden. Xenon (Xe) is a general anesthetic with neuroprotective effects. OBJECTIVES:Here, we investigate the neuroprotective role of Xe in a lipopolysaccharide (LPS)- and hypoxia-ischemia (HI)-induced white matter damage (WMD) model. METHODS:Three-day-old Spragu...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000487220
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Despite increasing survival in the smallest preterm infants, the incidence of chronic lung disease has not decreased. Research into ventilatory strategies has concentrated on minimising barotrauma, volutrauma and atelectotrauma, but little attention has been paid to the role of bias gas flow rates and the po...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000220765
更新日期:2009-01-01 00:00:00
abstract:BACKGROUND:Inflammation due to perinatal infection (PI) and perinatal asphyxia (PA) may cause damage to various tissues and very often to the immature brain of the fetus and the newborn. Previously, we have shown that the neonatal immune system has the ability to produce increased chemokine protein levels in the serum ...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000097127
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:Sustained lung inflation (SLI) applied at birth has been demonstrated to lead to clearance of lung fluid and achievement of a precocious functional residual capacity in animal studies. OBJECTIVES:To verify if the application of SLI in preterm infants at birth may reduce the need for mechanical ventilation a...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000298312
更新日期:2011-01-01 00:00:00
abstract:OBJECTIVE:The aim of this study was to evaluate whether a new MRI scoring system for preterm non-haemorrhagic white matter injury (WMI), derived from the analysis of the natural evolution of WMI throughout the neonatal period until term-equivalent age, can be used for outcome prediction. METHODS:Eighty-two infants <36...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000499346
更新日期:2019-01-01 00:00:00
abstract:BACKGROUND:Streptococcus agalactiae (group B Streptococcus, GBS) is the most common cause of early neonatal infection, but restricting the diagnosis to culture-positive infants may underestimate the burden of GBS disease. Our objective was to determine whether maternal GBS colonization was associated with an increased ...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000434716
更新日期:2015-01-01 00:00:00
abstract:BACKGROUND:Faecal calprotectin has been proposed as a sensitive marker for gastrointestinal inflammation in children and adults. High levels have been reported in healthy newborns and during the first months of life; the effect of the kind of feeding on the calprotectin concentration in stools is controversial. OBJECT...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000255161
更新日期:2010-06-01 00:00:00
abstract:BACKGROUND:Phenobarbitone induces suppression of cerebral electrical activity on amplitude-integrated electroencephalography (aEEG) in neonates with hypoxic-ischemic encephalopathy (HIE); however, its effect during therapeutic hypothermia (TH) has not been well characterized. OBJECTIVE:To evaluate the effect of phenob...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000511540
更新日期:2021-01-07 00:00:00
abstract:BACKGROUND:High-dose dexamethasone (DXM) treatment of preterms at risk of bronchopulmonary dysplasia leads to a deterioration in quality of their general movements (GMs). It is unknown whether low-dose DXM affects GM quality similarly. OBJECTIVES:To assess the effect of low-dose DXM treatment on the quality of GMs and...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000362919
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Preterm birth contributes significantly to infant mortality and morbidity, including blindness from retinopathy of prematurity (ROP). Access to intensive neonatal care is expanding in many countries, but care is not always optimal, one factor being that nursing is often by inadequately trained nurse assistan...
journal_title:Neonatology
pub_type: 临床试验,杂志文章
doi:10.1159/000362532
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Substantial health care resources are expended on standardised formal neonatal resuscitation training (SFNRT) programmes, but their effectiveness has not been proven. OBJECTIVES:To determine whether SFNRT programmes reduce neonatal mortality and morbidity, improve acquisition and retention of knowledge and ...
journal_title:Neonatology
pub_type: 杂志文章,meta分析,评审
doi:10.1159/000443875
更新日期:2016-01-01 00:00:00
abstract:BACKGROUND:Targeted milrinone treatment for low left ventricular output (LVO) reduces the incidence of acute cardiorespiratory instability following ligation of patent ductus arteriosus (PDA) in preterm infants. Despite this, some infants continue to experience postoperative deterioration. Adrenal insufficiency related...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000350017
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Preventing the development of allergic skin disease in children is the best way to treat the disease. OBJECTIVES:Ultraviolet (UV)-free blue light phototherapy has been reported to treat atopic eczema. We evaluated the effect of neonatal phototherapy on allergic skin disease in children. METHODS:We randomly...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000489389
更新日期:2018-01-01 00:00:00
abstract::Transcutaneous electromyography of the diaphragm (dEMG) is a noninvasive and easy applicable tool to measure the electrical activity of the diaphragm. dEMG monitoring has recently been introduced in the neonatal intensive care unit as a novel cardiorespiratory monitor providing direct information on diaphragmatic brea...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000381207
更新日期:2015-01-01 00:00:00
abstract:UNLABELLED:Near-infrared spectroscopy-derived regional tissue oxygen saturation of haemoglobin (rStO2) reflects venous oxygen saturation. If cerebral metabolism is stable, rStO2 can be used as an estimate of cerebral oxygen delivery. The SafeBoosC phase II randomised clinical trial hypothesises that the burden of hypo-...
journal_title:Neonatology
pub_type: 杂志文章,随机对照试验
doi:10.1159/000351346
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Clinical illness caused by resistant bacteria usually represents a wider problem of asymptomatic colonization. Active surveillance with appropriate institution of isolation precautions represents a potential mechanism to control colonization and reduce infection. The neonatal intensive care unit (NICU) is an...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000343150
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:With the increasing incidence of births of very preterm very-low-birth-weight infants, there is a demand for echocardiographic reference values of cardiac dimensions. OBJECTIVES:The aim of this study was to provide reference values of cardiac valve annulus diameters in a cohort of extremely preterm very-low...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000488387
更新日期:2018-01-01 00:00:00
abstract:BACKGROUND:Corticosteroids have been used widely after birth in preterm infants with respiratory failure; hydrocortisone may be preferable to other corticosteroids for this purpose. OBJECTIVES:To determine if postnatal hydrocortisone is useful to prevent or treat bronchopulmonary dysplasia (BPD) in preterm infants. M...
journal_title:Neonatology
pub_type: 杂志文章,meta分析,评审
doi:10.1159/000279992
更新日期:2010-01-01 00:00:00
abstract:BACKGROUND:Newborns are susceptible to inflammatory diseases due to defects in clearing activated immune cells from tissues. Therefore, mechanisms have likely evolved to protect neonates from leukocyte-mediated cytotoxicity. Bilirubin has antioxidant activity, and it is possible that it also exerts effects on cellular ...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000343097
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:Neonatal reference values of gallbladder size have been assessed in healthy newborns with enteral feeding regimen. Their applicability to critically ill patients under total parenteral nutrition (TPN) remains to be questioned. OBJECTIVE:Our aim was to evaluate the impact of short-term TPN versus enteral nut...
journal_title:Neonatology
pub_type: 临床试验,杂志文章
doi:10.1159/000102058
更新日期:2007-01-01 00:00:00
abstract:BACKGROUND:The causes of bronchopulmonary dysplasia (BPD) are multifactorial. Overdistension of the lung (volutrauma) is considered an important contribution. As an alternative to traditional pressure-limited ventilation (PLV), modern neonatal ventilators offer modes which can target a set tidal volume. OBJECTIVES:To ...
journal_title:Neonatology
pub_type: 杂志文章,meta分析,评审
doi:10.1159/000326080
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:Periventricular white matter (PWM) is particularly vulnerable in very preterm infants. Non-cystic white matter injury, known as non-cystic periventricular leukomalacia (ncPVL), is the commonest 'lesion' affecting the preterm brain. There is no consensus about whether ncPVL can be reliably identified from cer...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000357937
更新日期:2014-01-01 00:00:00
abstract:BACKGROUND:Ventilatory pressures should target the range between the upper and lower inflection point of the pressure volume curve in order to avoid atelecto- and volutrauma. During high-frequency oscillatory ventilation (HFOV), this range is difficult to determine. Quadrant impedance measurement (QIM) has recently bee...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000345612
更新日期:2013-01-01 00:00:00
abstract:BACKGROUND:While hypoxic events with bradycardias are a frequent occurrence during the first weeks of life in preterm infants, the impact of preterm birth on maturation of the cardiovascular response to hypoxia in early postnatal life is unknown. OBJECTIVES:In the present study, we tested the hypothesis that preterm b...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000110868
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Retinopathy of prematurity (ROP) is a gestational age (GA)-related illness that can lead to blindness in premature infants. Timely screening of premature infants could improve visual prognosis. OBJECTIVE:To evaluate the WINROP algorithm as a method of predicting severe ROP in a Chinese population. METHODS:...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000351297
更新日期:2013-01-01 00:00:00
abstract::This paper describes a neonate with type II Gaucher disease. The phenotype was unusually severe with congenital ichthyosis, hepatosplenomegaly, muscular hypotonia, myoclonus and respiratory failure. Electron microscopy of the skin revealed lamellar body contents in the stratum corneum interstices, appearances consider...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000324116
更新日期:2011-01-01 00:00:00
abstract:BACKGROUND:The postnatal heart responds to biomechanical stress with hypertrophy. The fetal heart may also undergo hyperplasia, but the percentage of mitotically active cardiomyocytes decreases throughout gestation. The signaling pathways controlling growth and proliferation in the fetal heart are poorly understood. O...
journal_title:Neonatology
pub_type: 杂志文章
doi:10.1159/000107729
更新日期:2008-01-01 00:00:00
abstract:BACKGROUND:Early host-microbe interaction provides important maturational stimuli for the developing immune system. The role of prenatal microbial contact remains elusive. OBJECTIVES:Our aim was to investigate whether microbes in placenta or amniotic fluid affect fetal innate immune gene expression during late pregnan...
journal_title:Neonatology
pub_type: 杂志文章,随机对照试验
doi:10.1159/000339182
更新日期:2012-01-01 00:00:00