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Neonatal neurology

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https://www.readbyqxmd.com/read/28943513/neonatal-diabetes-two-cases-with-isolated-pancreas-agenensis-due-to-homozygous-ptf1a-enhancer-mutations-and-one-with-dend-syndrome-due-to-kcnj11-mutation
#1
Olcay Evliyaoğlu, Oya Ercan, Emel Ataloğlu, Ümit Zübarioğlu, Bahar Özcabı, Aydilek Dağdeviren, Hande Erdoğan, Elisa De Franco, Sian Ellard
Neonatal diabetes mellitus is a rare form of monogenic diabetes which is diagnosed in the first 6 months of life. Here we report three patients with neonatal diabetes; two with isolated pancreas agenesis due to mutations in the PTF1A enhancer and one with DEND syndrome (developmental delay, epilepsy, and neonatal diabetes) due to a KCNJ11 mutation. The two cases with mutations in the distal enhacer of PTF1A had a homozygous g.23508363A>G and a homozygous g.23508437A>G mutation respectively. Previous functional analysis showed that these mutations can decrease expression of PTF1A which is involved in pancreas development...
September 25, 2017: Journal of Clinical Research in Pediatric Endocrinology
https://www.readbyqxmd.com/read/28941572/effects-of-neural-stem-cell-media-on-hypoxic-injury-in-rat-hippocampal-slice-cultures
#2
Na Mi Lee, Soo Ahn Chae, Hong Jun Lee
Neonatal hypoxic-ischemic brain injuries cause serious neurological sequelae, yet there is currently no effective treatment for them. We hypothesized that neurotrophic factors released into the medium by stem cells could supply hypoxia-damaged organotypic hippocampal slice cultures with regenerative abilities. We prepared organotypic slice cultures of the hippocampus of 7-day-old Sprague-Dawley rats based on the modified Stoppini method; slices were cultured for 14 days in vitro using either Gahwiler's medium (G-medium) or stem cell-conditioned medium (S-medium) as culture medium...
September 20, 2017: Brain Research
https://www.readbyqxmd.com/read/28937832/aberrant-plasticity-in-the-hippocampus-after-neonatal-seizures
#3
Xiaoqian Zhang, Huiling Qu, Ying Wang, Shanshan Zhao, Ting Xiao, Chuansheng Zhao, Weiyu Teng
Neonatal seizures are the most frequent type of neurological disorder and those newborn babies that experience seizures carry an increased risk of epileptogenesis and other long-term morbidities. The newly generated dentate granule cells (DGCs) integrate functionally into the mature hippocampal network by continuously forming connections with their targets but this process of adult neurogenesis can be influenced by seizures. When compared to adult seizures, neonatal seizures may exert different effects on neurogenesis due to the high resistance of the newborn's neurons to cell death combined with the inherent high sensitivity to seizures in the immature brain...
September 22, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28937538/severe-neonatal-cholestasis-in-cerebrotendinous-xanthomatosis-genetics-immunostaining-mass-spectrometry
#4
Jing-Yu Gong, Kenneth D R Setchell, Jing Zhao, Wujuan Zhang, Brian Wolfe, Yi Lu, Karolin Lackner, A S Knisely, Neng-Li Wang, Chen-Zhi Hao, Mei-Hong Zhang, Jian-She Wang
OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is caused by defects in sterol 27-hydroxylase (CYP27A1, encoded by CYP27A1), a key enzyme in the bile acid synthesis pathway. CTX usually presents as neurologic disease in adults or older children. The very rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs. METHODS: Homozygous or compound heterozygous CYP27A1 mutations were detected in 8 neonatal cholestasis patients by whole exome sequencing, panel sequencing, or Sanger sequencing...
September 20, 2017: Journal of Pediatric Gastroenterology and Nutrition
https://www.readbyqxmd.com/read/28937342/do-chimeras-have-minds
#5
Benjamin Capps
Suppose that a colleague proposed a fantastic experiment: to introduce human stem cells into a neonatal mouse so that its entire brain developed into "human-like" neuronal structures. The colleague claimed it would still be a mouse, and that its chimeric brain would be nothing like a "human" one. It would not, as a result, have a moral status beyond its nonhuman animal origins. Thus, the "human neuron mouse" would allow scientists to tinker with human-like neurology in ways that would be precluded if it were a human being, and that would promise to lead to substantial understanding of the destructive and incurable brain diseases that befall humanity...
October 2017: Cambridge Quarterly of Healthcare Ethics: CQ: the International Journal of Healthcare Ethics Committees
https://www.readbyqxmd.com/read/28930990/application-of-an-amplitude-integrated-eeg-monitor-cerebral-function-monitor-to-neonates
#6
Nora Bruns, Susanne Blumenthal, Irmgard Meyer, Susanne Klose-Verschuur, Ursula Felderhoff-Müser, Hanna Müller
Amplitude-integrated EEG (aEEG) is an easily accessible technique to monitor the electrocortical activity in preterm and term infants in neonatal intensive care units (NICUs). This method was first used to monitor newborns after asphyxia, providing information about future neurological outcomes. The aEEG is also helpful to select newborns who benefit from cooling. The aEEG monitoring of preterm infants is becoming more widespread, as various studies have shown that neurodevelopmental outcome is related to early aEEG tracings...
September 6, 2017: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/28928561/periprocedural-management-of-vein-of-galen-aneurysmal-malformation-patients-an-11-year-experience
#7
Ajay Prasad Hrishi, Karen Ruby Lionel
CONTEXT: The vein of Galen aneurysmal malformation (VGAM) is a rare arteriovenous malformation where a dilated median prosencephalic vein provides a low-resistance conduit for intracerebral blood flow resulting in high-output cardiac failure, severe pulmonary hypertension, with or without central nervous system symptoms secondary to hydrocephalus, in the neonatal and pediatric population. AIM: This study aims to analysis of the anesthetic management of this unique subset of patients with VGAM...
July 2017: Anesthesia, Essays and Researches
https://www.readbyqxmd.com/read/28925896/allopurinol-old-drug-new-indication-in-neonates
#8
Kim V Annink, Axel R Franz, Jan B Derks, Mario Rüdiger, Frank van Bel, Manon J N L Benders
BACKGROUND: Hypoxic-ischemic encephalopathy (HIE) is an important cause of neonatal mortality and neurological morbidity, even despite hypothermia treatment. Neuronal damage in these infants is partly caused by the production of superoxides via the xanthine-oxidase pathway and concomitant free radical formation. Allopurinol is a xanthine-oxidase inhibitor and can potentially reduce the formation of these superoxides that lead to brain damage in HIE. METHODS: The aim of this review is to provide an overview of the animal and clinical data about the neuroprotective effect of allopurinol in HIE and the relevant mechanisms leading to brain injury in HIE...
September 18, 2017: Current Pharmaceutical Design
https://www.readbyqxmd.com/read/28922852/magnesium-sulfate-prevents-neurochemical-and-long-term-behavioral-consequences-of-neonatal-excitotoxic-lesions-comparison-between-male-and-female-mice
#9
Ismaël Daher, Bérénice Le Dieu-Lugon, Nathalie Dourmap, Matthieu Lecuyer, Lauriane Ramet, Cathy Gomila, Jérôme Ausseil, Stéphane Marret, Philippe Leroux, Vincent Roy, Salah El Mestikawy, Stéphanie Daumas, Bruno Gonzalez, Isabelle Leroux-Nicollet, Carine Cleren
Magnesium sulfate (MgSO4) administration to mothers at risk of preterm delivery is proposed as a neuroprotective strategy against neurological alterations such as cerebral palsy in newborns. However, long-term beneficial or adverse effects of MgSO4 and sex-specific sensitivity remain to be investigated. We conducted behavioral and neurochemical studies of MgSO4 effects in males and females, from the perinatal period to adolescence in a mouse model of cerebral neonatal lesion. The lesion was produced in 5-day-old (P5) pups by ibotenate intracortical injection...
October 1, 2017: Journal of Neuropathology and Experimental Neurology
https://www.readbyqxmd.com/read/28922267/the-1-year-follow-up-clinic-for-neonates-and-children-after-respiratory-extracorporeal-membrane-oxygenation-support-a-10-year-single-institution-experience
#10
Suzan Kakat, Maura O'Callaghan, Liz Smith, Raymond Hreiche, Deborah A Ridout, Jo Wray, Timothy Thiruchelvam, Katherine L Brown, Aparna U Hoskote
OBJECTIVES: To establish the effectiveness of a "1-year extracorporeal membrane oxygenation follow-up clinic" and to characterize any neurodevelopmental concerns identified. DESIGN: Single-center retrospective cohort of respiratory extracorporeal membrane oxygenation survivors over 10 years. SETTING: Nationally commissioned center for neonatal and pediatric (> 28 d of life) respiratory extracorporeal membrane oxygenation. PATIENTS: Children attending the follow-up clinic 1 year after receiving respiratory extracorporeal membrane oxygenation between 2003 and 2013...
September 15, 2017: Pediatric Critical Care Medicine
https://www.readbyqxmd.com/read/28922194/benign-neonatal-sleep-myoclonus-evokes-somatosensory-responses
#11
Emma Losito, Monika Eisermann, Patricia Vignolo, Shushanik Hovhannisyan, Jean François Magny, Anna Kaminska
PURPOSE: Benign neonatal sleep myoclonus is a common nonepileptic condition occurring in neurologically normal full-term newborns. During jerks, EEG has always been described as normal. The aim of this study was to describe EEG changes associated with the myoclonic jerks. METHODS: Polygraphic video-EEG recordings of four full-term neonates presenting benign neonatal sleep myoclonus were studied. Myoclonic jerks were analyzed regarding their topography, frequency, propagation pattern, and reflex component...
September 14, 2017: Journal of Clinical Neurophysiology: Official Publication of the American Electroencephalographic Society
https://www.readbyqxmd.com/read/28919799/maple-syrup-urine-disease-mechanisms-and-management
#12
REVIEW
Patrick R Blackburn, Jennifer M Gass, Filippo Pinto E Vairo, Kristen M Farnham, Herjot K Atwal, Sarah Macklin, Eric W Klee, Paldeep S Atwal
Maple syrup urine disease (MSUD) is an inborn error of metabolism caused by defects in the branched-chain α-ketoacid dehydrogenase complex, which results in elevations of the branched-chain amino acids (BCAAs) in plasma, α-ketoacids in urine, and production of the pathognomonic disease marker, alloisoleucine. The disorder varies in severity and the clinical spectrum is quite broad with five recognized clinical variants that have no known association with genotype. The classic presentation occurs in the neonatal period with developmental delay, failure to thrive, feeding difficulties, and maple syrup odor in the cerumen and urine, and can lead to irreversible neurological complications, including stereotypical movements, metabolic decompensation, and death if left untreated...
2017: Application of Clinical Genetics
https://www.readbyqxmd.com/read/28919465/uridine-treatment-protects-against-neonatal-brain-damage-and-long-term-cognitive-deficits-caused-by-hyperoxia
#13
Bulent Goren, Aysen Cakir, Cansu Sevinc, Sema Serter Kocoglu, Busra Ocalan, Ceren Oy, Zehra Minbay, Nevzat Kahveci, Tulin Alkan, Mehmet Cansev
Exposure to excessive oxygen in survivors of preterm birth is one of the factors that underlie the adverse neurological outcome in later life. Various pathological changes including enhanced apoptotic activity, oxidative stress and inflammation as well as decreased neuronal survival has been demonstrated in animal models of neonatal hyperoxia. The aim of the present study was to investigate the effect of administering uridine, an anti-apoptotic agent, on cellular, molecular and behavioral consequences of hyperoxia-induced brain damage in a neonatal rat model...
September 15, 2017: Brain Research
https://www.readbyqxmd.com/read/28917084/evaluation-of-neurodevelopment-of-children-with-congenital-hypothyroidism-by-the-denver-developmental-screening-test
#14
Ayşe Derya Buluş, Esra Tiftik
BACKGROUND: Thyroid hormones are essential for growth and brain development in childhood. Although congenital hypothyroidism (CH) is the most common reason for mental retardation, normal neurological development can be achieved through early and effective treatment. The aim of the present study was to evaluate the neurological development of CH patients aged 24-56 months. METHODS: The study included a total of 116 healthy control subjects and 112 patients aged 24-56 months who were diagnosed with CH during the neonatal period and were being followed up at the Pediatric Endocrinology Department, Keçiören Training and Research Hospital, between 2012 and 2015...
September 16, 2017: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/28916591/continuous-glucose-monitoring-in-very-preterm-infants-a-randomized-controlled-trial
#15
Alfonso Galderisi, Andrea Facchinetti, Garry M Steil, Paulina Ortiz-Rubio, Francesco Cavallin, William V Tamborlane, Eugenio Baraldi, Claudio Cobelli, Daniele Trevisanuto
BACKGROUND AND OBJECTIVES: Impaired glucose control in very preterm infants is associated with increased morbidity, mortality, and poor neurologic outcome. Strategies based on insulin titration have been unsuccessful in achieving euglycemia in absence of an increase in hypoglycemia and mortality. We sought to assess whether glucose administration guided by continuous glucose monitoring (CGM) is more effective than standard of care blood glucose monitoring in maintaining euglycemia in very preterm infants...
September 15, 2017: Pediatrics
https://www.readbyqxmd.com/read/28915908/advances-in-paediatrics-in-2016-current-practices-and-challenges-in-allergy-autoimmune-diseases-cardiology-endocrinology-gastroenterology-infectious-diseases-neonatology-nephrology-neurology-nutrition-pulmonology
#16
REVIEW
Carlo Caffarelli, Francesca Santamaria, Dora Di Mauro, Carla Mastrorilli, Silvia Montella, Sergio Bernasconi
This review reports main progresses in various pediatric issues published in Italian Journal of Pediatrics and in international journals in 2016. New insights in clinical features or complications of several disorders may be useful for our better understanding. They comprise severe asthma, changing features of lupus erythematosus from birth to adolescence, celiac disease, functional gastrointestinal disorders, Moebius syndrome, recurrent pneumonia. Risk factors for congenital heart defects, Kawasaki disease have been widely investigated...
September 16, 2017: Italian Journal of Pediatrics
https://www.readbyqxmd.com/read/28914079/co-infection-of-human-herpesvirus-type-2-hhv-2-and-human-immunodeficiency-virus-hiv-among-pregnant-women-in-rio-de-janeiro-brazil
#17
Lyana Rodrigues Pinto Lima, Luis Eduardo Barros Costa Fernandes, Daniel A M Villela, Mariza Gonçalves Morgado, José Henrique Pilotto, Vanessa Salete de Paula
Pregnant women who are infected with the Human Immunodeficiency Virus (HIV) are particularly vulnerable to severe and recurrent infections with Human Herpesvirus 2 (HHV-2). Neonatal transmission of HHV-2 has been associated with malformations and neurological sequelae in infants, which makes it very important to perform antenatal monitoring for genital herpes. In the study, 134 pregnant women infected with HIV were tested for HHV-2 IgM and IgG using an enzyme-linked immunosorbent assay (ELISA) and had HHV-2 DNA analyzed by Real Time Polymerase Chain Reaction (qPCR)...
September 15, 2017: AIDS Care
https://www.readbyqxmd.com/read/28910997/paediatric-nuclear-medicine-imaging
#18
Lorenzo Biassoni, Marina Easty
Background: Nuclear medicine imaging explores tissue viability and function by using radiotracers that are taken up at cellular level with different mechanism. This imaging technique can also be used to assess blood flow and transit through tubular organs. Nuclear medicine imaging has been used in paediatrics for decades and this field is continuously evolving. Sources of data: The data presented comes from clinical experience and some milestone papers on the subject...
September 1, 2017: British Medical Bulletin
https://www.readbyqxmd.com/read/28904689/severe-neonatal-cytomegalovirus-infection-about-a-case
#19
Brahim El Hasbaoui, Amal Bousselamti, Mohammed Amine Redouani, Amina Barkat
Maternofoetal infection with Cytomegalovirus (CMV) is the most common congenital infection and a leading cause of mental retardation and sensori-neural hearing loss. Population-based studies indicate that at least 0.5% of all infants born alive have CMV of whom approximately 10% have clinically evident symptomsat birth. The Justification of systematic screening for foetal CMV infection is still controversial and is not recommended in most developed countries. This is mainly justified by the paucity of antenatal prognostic factors and the lack of established intrauterine treatment when foetal infection has been diagnosed...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28904658/prenatal-diagnosis-of-caudal-regression-syndrome-and-omphalocele-in-a-fetus-of-a-diabetic-mother
#20
Haifa Bouchahda, Houda El Mhabrech, Hechmi Ben Hamouda, Sobhi Ghanmi, Rim Bouchahda, Habib Soua
The caudal regression syndrome is defined as total or partial agenesis of the sacrum and lumbar spine, frequently associated with other developmental malformations (orthopedic, neurological, genito-urinary, gastrointestinal…). Prenatal diagnosis is possible through fetal ultrasound (US) and magnetic resonance imaging (MRI). A case of fetal caudal regression syndrome with omphalocele from a diabetic mother is presented, demonstrating the sonographic, MRI, CT and X-Ray features diagnostic. We will also discuss neonatal findings, risk factors and prognosis of this condition...
2017: Pan African Medical Journal
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