keyword
https://read.qxmd.com/read/38651838/expanded-clinical-phenotype-spectrum-correlates-with-variant-function-in-scn2a-related-disorders
#1
JOURNAL ARTICLE
Anne T Berg, Christopher H Thompson, Leah Schust Myers, Erica Anderson, Lindsey Evans, Ariela J E Kaiser, Katherine Paltell, Amanda N Nili, Jean-Marc DeKeyser, Tatiana V Abramova, Gerry Nesbitt, Shawn Egan, Carlos G Vanoye, Alfred L George
SCN2A-related disorders secondary to altered function in the voltage-gated sodium channel NaV1.2 are rare with clinically heterogeneous expressions that include epilepsy, autism, and multiple severe to profound impairments and other conditions. To advance understanding of the clinical phenotypes and their relation to channel function, 81 patients (36, 44% female, median age 5.4 years) with 69 unique SCN2A variants were systematically phenotyped and their NaV1.2 channel function systematically assessed. Participants were recruited through the FamileSCN2A Foundation...
April 23, 2024: Brain
https://read.qxmd.com/read/38651224/current-status-and-associated-factors-of-post-hemorrhagic-hydrocephalus-in-infants-of-22-to-28-weeks-gestation-with-severe-intraventricular-hemorrhage-in-korea-a-nationwide-cohort-study
#2
JOURNAL ARTICLE
Misun Yang, Sumin Kim, Se In Sung, Yun Sil Chang, Won Soon Park, So Yoon Ahn
BACKGROUND: Post-hemorrhagic hydrocephalus (PHH), a common complication of severe intraventricular hemorrhage (IVH) in very low birth weight (BW) infants, is associated with significant morbidity and poor neurological outcomes. The objective of this study was to assess the current status of PHH and analyze the risk factors associated with the necessity of treatment for PHH in infants born between 22 and 28 weeks of gestation, specifically those with severe IVH (grade 3 or 4). METHODS: The analysis was conducted on 1,097 infants who were born between 22-28 gestational weeks and diagnosed with severe IVH, using data from the Korean Neonatal Network...
April 22, 2024: Journal of Korean Medical Science
https://read.qxmd.com/read/38649726/regional-variability-in-therapeutic-hypothermia-eligibility-criteria-for-neonatal-hypoxic-ischemic-encephalopathy
#3
REVIEW
Jacopo Proietti, Geraldine B Boylan, Brian H Walsh
Early induced therapeutic hypothermia represents the cornerstone treatment in neonates with probable hypoxic-ischemic encephalopathy. The selection of patients for treatment usually involves meeting criteria indicating evidence of perinatal hypoxia-ischemia and the presence of moderate or severe encephalopathy. In this review, we highlight the variability that exists between some of the different regional and national eligibility guidelines. Determining the potential presence of perinatal hypoxia-ischemia may require either one, two or three signs amongst history of acute perinatal event, prolonged resuscitation at delivery, abnormal blood gases and low Apgar score, with a range of cutoff values...
April 22, 2024: Pediatric Research
https://read.qxmd.com/read/38638587/partnering-early-to-provide-for-infants-at-risk-of-cerebral-palsy-p%C3%A4-pi-arc-protocol-for-a-feasibility-study-of-a-regional-hub-for-early-detection-of-cerebral-palsy-in-aotearoa-new-zealand
#4
JOURNAL ARTICLE
Angelica Allermo Fletcher, Gaela Kilgour, Meghan Sandle, Sally Kidd, Alison Sheppard, Stephanie Swallow, Ngaire Susan Stott, Malcolm Battin, Wyllis Korent, Sian A Williams
INTRODUCTION: Cerebral palsy (CP) can now be diagnosed in infants with identified CP risk factors as early as three months of age; however, many barriers prevent equitable access to early detection pathways. The "Partnering Early to Provide for Infants At Risk of Cerebral Palsy" feasibility study (PĒPI ARC) seeks to trial a new approach to decrease inequitable health service in Aotearoa New Zealand for high-risk infants and their families. PĒPI ARC incorporates face-to-face clinics, an in-person and virtual Hub, and the use of telehealth to enable flexible access to CP assessments and support for health professionals in early CP detection...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38637762/neurobehavioral-outcomes-of-neonatal-asymptomatic-congenital-cytomegalovirus-infection-at-12-months
#5
JOURNAL ARTICLE
Sally M Stoyell, Jed T Elison, Emily Graupmann, Neely C Miller, Jessica Emerick, Elizabeth Ramey, Kristen Sandness, Mark R Schleiss, Erin A Osterholm
BACKGROUND: Congenital cytomegalovirus (cCMV) is the most common congenital viral infection in the United States. Symptomatic infections can cause severe hearing loss and neurological disability, although ~ 90% of cCMV infections are asymptomatic at birth. Despite its prevalence, the long-term neurobehavioral risks of asymptomatic cCMV infections are not fully understood. The objective of this work was to evaluate for potential long-term neurobehavioral sequelae in infants with asymptomatic cCMV...
April 18, 2024: Journal of Neurodevelopmental Disorders
https://read.qxmd.com/read/38637242/clinical-decisions-in-fetal-neonatal-neurology-ii-gene-environment-expression-over-the-first-1000-days-presenting-as-four-great-neurological-syndromes
#6
REVIEW
Mark S Scher, Sonika Agarwal, Charu Venkatesen
Interdisciplinary fetal-neonatal neurology (FNN) training considers a woman's reproductive and pregnancy health histories when assessing the "four great neonatal neurological syndromes". This maternal-child dyad exemplifies the symptomatic neonatal minority, compared with the silent majority of healthy children who experience preclinical diseases with variable expressions over the first 1000 days. Healthy maternal reports with reassuring fetal surveillance testing preceded signs of fetal distress during parturition...
April 9, 2024: Seminars in Fetal & Neonatal Medicine
https://read.qxmd.com/read/38636257/relationship-between-early-infant-motor-repertoire-and-neurodevelopment-on-the-hammersmith-infant-neurological-examination-in-a-developmentally-vulnerable-first-nations-cohort
#7
JOURNAL ARTICLE
Carly Luke, Leeann Mick-Ramsamy, Arend F Bos, Katherine A Benfer, Margot Bosanquet, Anya Gordon, Hailey Williams, Chloe Taifalos, Maria Smith, Shaneen Leishman, Ellena Oakes, Megan Kentish, Lynda McNamara, Robert S Ware, Roslyn N Boyd
AIM: To implement a culturally-adapted screening program aimed to determine the ability of infant motor repertoire to predict early neurodevelopment on the Hammersmith Infant Neurological Examination (HINE) and improve Australian First Nations families' engagement with neonatal screening. METHODS: A prospective cohort of 156 infants (55 % male, mean (standard deviation [SD]) gestational age 33.8 (4.6) weeks) with early life risk factors for adverse neurodevelopmental outcomes (ad-NDO) participated in a culturally-adapted screening program...
April 8, 2024: Early Human Development
https://read.qxmd.com/read/38634892/early-neurological-signs-in-infants-identified-through-neonatal-screening-for-sma-do-they-predict-outcome
#8
JOURNAL ARTICLE
Marika Pane, Giulia Stanca, Chiara Ticci, Costanza Cutrona, Roberto De Sanctis, Matteo Pirinu, Giorgia Coratti, Concetta Palermo, Beatrice Berti, Daniela Leone, Michele Sacchini, Margherita Cerboneschi, Lavinia Fanelli, Giulia Norcia, Nicola Forcina, Anna Capasso, Gianpaolo Cicala, Laura Antonaci, Martina Ricci, Maria Carmela Pera, Chiara Bravetti, Maria Alice Donati, Elena Procopio, Emanuela Abiusi, Alessandro Vaisfeld, Roberta Onesimo, Francesco Danilo Tiziano, Eugenio Mercuri
Neonatal screening for SMA has allowed the identification of infants who may present with early clinical signs. Our aim was to establish whether the presence and the severity of early clinical signs have an effect on the development of motor milestones. Infants identified through newborn screening were prospectively assessed using a structured neonatal neurological examination and an additional module developed for the assessment of floppy infants. As part of the follow-up, all infants were assessed using the HINE-2 to establish developmental milestones...
April 18, 2024: European Journal of Pediatrics
https://read.qxmd.com/read/38616820/brain-magnetic-resonance-imaging-review-suggests-unrecognised-hypoglycaemia-in-childhood
#9
JOURNAL ARTICLE
Chris Worth, Pon Ramya Gokul, Katie Ramsden, Sarah Worthington, Maria Salomon-Estebanez, Amit Maniyar, Indraneel Banerjee
INTRODUCTION: Neonatal and early-life hypoglycaemia, is a frequent finding but is often non-specific and asymptomatic, making detection and diagnosis challenging. Hypoglycaemia-induced cerebral injury can be identified by magnetic resonance imaging (MRI) changes in cerebral white matter, occipital lobes, and posterior parietotemporal regions. It is unknown if children may have hypoglycaemic brain injury secondary to unrecognised hypoglycaemia in early life. We have examined retrospective radiological findings of likely brain injury by neuroimaging to investigate the existence of previous missed hypoglycaemic events...
2024: Frontiers in Endocrinology
https://read.qxmd.com/read/38599287/nufip1-engineered-exosomes-derived-from-humscs-regulate-apoptosis-and-neurological-injury-induced-by-propofol-in-newborn-rats
#10
JOURNAL ARTICLE
Wen Sun, Pengyue Zhao, Shidong Hu, Zhenting Zhao, Boyan Liu, Xingpeng Yang, Jiaqi Yang, Ze Fu, Songyan Li, Wenli Yu
BACKGROUND: Propofol can increase neurotoxicity in infants but the precise mechanism is still unknown. Our previous study revealed that nuclear FMR1 interacting protein 1 (NUFIP1), a specific ribophagy receptor, can alleviate T cell apoptosis in sepsis. Yet, the effect of NUFIP1-engineered exosomes elicited from human umbilical cord blood mesenchymal stem cells (hUMSCs) on nerve injury induced by propofol remains unclear. This study intended to investigate the effect of NUFIP1-engineered exosomes on propofol-induced nerve damage in neonatal rats...
April 8, 2024: Neurotoxicology
https://read.qxmd.com/read/38583433/long-term-growth-and-neurodevelopmental-outcomes-of-neonates-infected-with-sars-cov-2-during-the-covid-19-pandemic-at-18-24-months-corrected-age-a-prospective-observational-study
#11
JOURNAL ARTICLE
Medha Goyal, Dwayne Mascarenhas, Prashanth Rr, Ruchi Nanavati
INTRODUCTION: During the early coronavirus disease (COVID-19) pandemic in 2020, researchers cautioned about the potential neuroinvasive capability of the virus and long-term neurological consequences. Although a few preliminary studies have found delayed communication, fine motor, and problem-solving skills in infants after COVID-19 infection, there continues to be a paucity of data on long-term development of neonates diagnosed with COVID-19. METHODS: We conducted a prospective study of 20 neonates who acquired severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) infection during the first wave of the pandemic (April-July 2020)...
April 5, 2024: Neonatology
https://read.qxmd.com/read/38583406/clinical-outcome-prediction-with-an-automated-eeg-trend-brain-state-of-the-newborn-after-perinatal-asphyxia
#12
JOURNAL ARTICLE
Saeed Montazeri, Päivi Nevalainen, Marjo Metsäranta, Nathan J Stevenson, Sampsa Vanhatalo
OBJECTIVE: To evaluate the utility of a fully automated deep learning -based quantitative measure of EEG background, Brain State of the Newborn (BSN), for early prediction of clinical outcome at four years of age. METHODS: The EEG monitoring data from eighty consecutive newborns was analyzed using the automatically computed BSN trend. BSN levels during the first days of life (a of total 5427 hours) were compared to four clinical outcome categories: favorable, cerebral palsy (CP), CP with epilepsy, and death...
March 15, 2024: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://read.qxmd.com/read/38582276/neuroprotective-effects-of-vce-004-8-in-a-rat-model-of-neonatal-stroke
#13
JOURNAL ARTICLE
María Villa, María Martínez-Vega, Laura Silva, Angela Romero, María de Hoz-Rivera, María Eugenia Prados, Eduardo Muñoz, José Martínez-Orgado
BACKGROUND: Currently there is no effective treatment for neonatal stroke, an acute neurologic syndrome with sequelae, due to focal ischemic, thrombotic, or hemorrhagic event occurring in the perinatal period. VCE-004.8, an aminoquinone exhibiting activity on CB2 and PPARγ receptors, is neuroprotective in adult mice models of acute and chronic brain damaging conditions. We hereby aimed to study VCE-004.8 neuroprotection in a rat model of neonatal stroke. METHODS: 7-day-old (P7) Wistar rats of both sexes were submitted to Middle Cerebral Artery Occlusion (MCAO), receiving i...
April 4, 2024: European Journal of Pharmacology
https://read.qxmd.com/read/38579069/effect-of-extended-precision-nursing-on-neurobehavioral-function-and-pregnancy-outcome-in-patients-with-threatened-abortion
#14
JOURNAL ARTICLE
Lijun Shen, Chunqing Wei, Yalian Wu, Yayuan Wu, Ying Zheng
This study aimed to assess the impact of continuous precision nursing on neurobehavioral function and pregnancy outcomes in patients experiencing threatened abortion. A total of 130 patients with early threatened abortion admitted to our hospital between October 2020 and January 2023 were selected and categorized into 2 groups based on intervention methods. The control group received routine nursing intervention, whereas the observation group received continuous precision nursing intervention. Changes in affective status scores, SF-36 scores, knowledge mastery scores, and satisfaction scores in the neurobehavioral function test before and after intervention were recorded in both groups...
April 5, 2024: Medicine (Baltimore)
https://read.qxmd.com/read/38566029/sustained-acute-kidney-injury-as-an-independent-risk-factor-for-neurodevelopmental-and-growth-outcomes-in-a-single-nicu-center
#15
JOURNAL ARTICLE
Chen-Wei Yen, Ming-Chou Chiang, Shih-Ming Chu, Hsiao-Chin Wang, Li-Chun Wu, Po-Cheng Yen, Mei-Ching Yu
PURPOSE: Acute kidney injury (AKI) is commonly seen in neonatal intensive care units (NICUs) and is potentially associated with adverse prognoses in later stages of life. Our study evaluated the impact of sustained AKI (SAKI) on both neurodevelopmental impairment (NDI) and early growth restriction (EGR) in neonates. METHODS: This case-control study retrospectively analyzed the medical records of neonates diagnosed with SAKI in the NICU of a tertiary medical center during the period from January 2007 to December 2020...
April 2, 2024: BMC Pediatrics
https://read.qxmd.com/read/38557687/neurologic-statistical-prognostication-and-risk-assessment-for-kids-on-extracorporeal-membrane-oxygenation-neuro-spark
#16
JOURNAL ARTICLE
Neel Shah, Saurabh Mathur, Prashanth Shanmugham, Xilong Li, Ravi R Thiagarajan, Sriraam Natarajan, Lakshmi Raman
This study presents Neuro-SPARK, the first scoring system developed to assess the risk of neurologic injury in pediatric and neonatal patients on extracorporeal membrane oxygenation (ECMO). Using the extracorporeal life support organization (ELSO) registry, we applied robust machine learning methodologies and clinical expertise to a 10 years dataset. We produced separate models for veno-venous (V-V ECMO) and veno-arterial (V-A ECMO) configurations due to their different risk factors and prevalence of neurologic injury...
April 1, 2024: ASAIO Journal: a Peer-reviewed Journal of the American Society for Artificial Internal Organs
https://read.qxmd.com/read/38555084/prenatal-air-pollution-exposure-is-associated-with-inflammatory-cardiovascular-and-metabolic-biomarkers-in-mothers-and-newborns
#17
JOURNAL ARTICLE
Nan Ji, Sandrah P Eckel, Helen Foley, Tingyu Yang, Fred Lurmann, Brendan H Grubbs, Rima Habre, Theresa M Bastain, Shohreh F Farzan, Carrie V Breton
BACKGROUND: Prenatal air pollution exposure has been associated with individual inflammatory, cardiovascular, and metabolic biomarkers in mothers and neonates. However, studies of air pollution and a comprehensive panel of biomarkers across maternal and cord blood samples remain limited. Few studies used data-driven methods to identify biomarker groupings that converge biomarkers from multiple biological pathways. This study aims to investigate the impacts of prenatal air pollution on groups of biomarkers in maternal and cord blood samples...
March 28, 2024: Environmental Research
https://read.qxmd.com/read/38547848/development-of-a-new-scoring-system-in-higher-animals-for-testing-cognitive-function-in-the-newborn-period-effect-of-prenatal-hypoxia-ischemia
#18
JOURNAL ARTICLE
Zhongjie Shi, Nadiya Sharif, Kehuan Luo, Sidhartha Tan
Introduction Enhanced models for assessing cognitive function in the neonatal period are imperative in higher animals. Postnatal motor deficits, characteristic of cerebral palsy, emerge in newborn kits within our prenatal-rabbit model of hypoxia-ischemia (HI). In humans, prenatal HI leads to intellectual disability and cerebral palsy. In a study examining cognitive function in newborn rabbits, we explored several questions. Is there a distinction between conditioned and unconditioned kits? Can the kits discern the human face or the lab coat? Do motorically-normal kits, born after prenatal HI, exhibit cognitive deficits? Methods The conditioning protocol was randomly assigned to kits from each litter...
March 28, 2024: Developmental Neuroscience
https://read.qxmd.com/read/38527245/size-and-location-of-preterm-brain-injury-and-associations-with-neurodevelopmental-outcomes
#19
JOURNAL ARTICLE
Thiviya Selvanathan, Ting Guo, Steven Ufkes, Vann Chau, Helen Branson, Anne Synnes, Linh G Ly, Edmond N Kelly, Ruth E Grunau, Steven P Miller
BACKGROUND AND OBJECTIVES: We examined associations of white matter injury (WMI) and periventricular hemorrhagic infarction (PVHI) volume and location with 18-month neurodevelopment in very preterm infants. METHODS: A total of 254 infants born <32 weeks' gestational age were prospectively recruited across 3 tertiary neonatal intensive care units (NICUs). Infants underwent early-life (median 33.1 weeks) and/or term-equivalent-age (median 41.9 weeks) MRI. WMI and PVHI were manually segmented for quantification in 92 infants...
April 23, 2024: Neurology
https://read.qxmd.com/read/38526575/reduced-racial-disparities-among-newborns-with-intraventricular-hemorrhage
#20
JOURNAL ARTICLE
Sumaiya Sayeed, Benjamin C Reeves, Brianna C Theriault, Astrid C Hengartner, Nabihah Ahsan, Sina Sadeghzadeh, Emad A Elsamadicy, Michael DiLuna, Aladine A Elsamadicy
INTRODUCTION: Intraventricular hemorrhage (IVH) can ensue permanent neurologic dysfunction, morbidity, and mortality. While previous reports have identified disparities based on patient gender or weight, no prior study has assessed how race may influence in neonatal or infantile IVH patients. The aim of this study was to investigate the impact of race on adverse event (AE) rates, length of stay (LOS), and total cost of admission among newborns with IVH. METHODS: Using the 2016-2019 National Inpatient Sample database, newborns diagnosed with IVH were identified using ICD-10-CM codes...
March 25, 2024: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
keyword
keyword
97828
1
2
Fetch more papers »
Fetching more papers... Fetching...
Remove bar
Read by QxMD icon Read
×

Save your favorite articles in one place with a free QxMD account.

×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"

We want to hear from doctors like you!

Take a second to answer a survey question.