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Neonatal neurology

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https://www.readbyqxmd.com/read/29782383/genetic-testing-of-xy-newborns-with-a-suspected-disorder-of-sex-development
#1
Malika Alimussina, Louise Ann Diver, Ruth McGowan, Syed Faisal Ahmed
PURPOSE OF REVIEW: The current review focuses on the neonatal presentation of disorders of sex development, summarize the current approach to the evaluation of newborns and describes recent advances in understanding of underlying genetic aetiology of these conditions. RECENT FINDINGS: Several possible candidate genes as well as other adverse environmental factors have been described as contributing to several clinical subgroups of 46,XY DSDs. Moreover, registry-based studies showed that infants with suspected DSD may have extragenital anomalies and in 46,XY cases, being small for gestational age (SGA), cardiac and neurological malformations are the commonest concomitant conditions...
May 17, 2018: Current Opinion in Pediatrics
https://www.readbyqxmd.com/read/29779043/glis1-3-transcription-factors-critical-roles-in-the-regulation-of-multiple-physiological-processes-and-diseases
#2
REVIEW
Anton M Jetten
Krüppel-like zinc finger proteins form one of the largest families of transcription factors. They function as key regulators of embryonic development and a wide range of other physiological processes, and are implicated in a variety of pathologies. GLI-similar 1-3 (GLIS1-3) constitute a subfamily of Krüppel-like zinc finger proteins that act either as activators or repressors of gene transcription. GLIS3 plays a critical role in the regulation of multiple biological processes and is a key regulator of pancreatic β cell generation and maturation, insulin gene expression, thyroid hormone biosynthesis, spermatogenesis, and the maintenance of normal kidney functions...
May 19, 2018: Cellular and Molecular Life Sciences: CMLS
https://www.readbyqxmd.com/read/29778695/corticosteroids-and-perinatal-hypoxic-ischemic-brain-injury
#3
REVIEW
Katherine R Concepcion, Lubo Zhang
Perinatal hypoxic-ischemic (HI) brain injury is the major cause of neonatal mortality and severe long-term neurological morbidity. Yet, the effective therapeutic interventions currently available are extremely limited. Corticosteroids act on both mineralocorticoid (MR) and glucocorticoid (GR) receptors and modulate inflammation and apoptosis in the brain. Neuroinflammatory response to acute cerebral HI is a major contributor to the pathophysiology of perinatal brain injury. Here, we give an overview of current knowledge of corticosteroid-mediated modulations of inflammation and apoptosis in the neonatal brain, focusing on key regulatory cells of the innate and adaptive immune response...
May 17, 2018: Drug Discovery Today
https://www.readbyqxmd.com/read/29775848/long-term-outcome-in-children-with-neonatal-seizures-a-tertiary-center-experience-in-cohort-of-168-patients
#4
Biljana Vucetic Tadic, Ruzica Kravljanac, Vlada Sretenovic, Vladislav Vukomanovic
PURPOSE: The purpose of this study was to evaluate long-term outcome and assess predictors of prognosis in children with neonatal seizures (NS). METHOD: This retrospective study includes children with NS treated at our Institute from January the 1st 2005 until December the 31st 2015. The data were collected from medical charts and the electroencephalogram (EEG) database at the Institute. The predictive value was evaluated for following parameters: (1) characteristics of the patients, such as gender, gestational age, birth body weight, Apgar score, artificial ventilation; (2) etiology; (3) characteristics of seizures such as type, time of onset, resistance to treatment; and (4) EEG background activity and paroxysmal discharges...
May 15, 2018: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/29773562/neuroimaging-findings-of-zika-virus-associated-neurologic-complications-in-adults
#5
REVIEW
L C Hygino da Cruz, O J M Nascimento, F P P L Lopes, I R F da Silva
When the first suspected cases of neurologic disorders associated with the Zika virus were noticed in Brazil in late 2015, several studies had been conducted to understand the pathophysiology of the disease and its associated complications. In addition to its well-established association with microcephaly in neonates, the Zika virus infection has also been suggested to trigger other severe neurologic complications in adults, such as Guillain-Barré syndrome, radiculomyelitis, and meningoencephalitis. Hence, the Zika virus should be deemed a global threat that can cause devastating neurologic complications among individuals in all age ranges...
May 17, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29773072/formal-procedure-to-facilitate-the-decision-to-withhold-or-withdraw-life-sustaining-interventions-in-a-neonatal-intensive-care-unit-a-seven-year-retrospective-study
#6
G Sorin, R Vialet, B Tosello
BACKGROUND: Neonatal deaths are often associated with the complex decision to limit or withdraw life-sustaining interventions (LSIs) rather than therapeutic impasses. Despite the existence of a law, significant disparities in clinical procedures remain. This study aimed to assess deaths occurring in a Neonatal Intensive Care Unit (NICU) and measure the impact of a traceable Limitation or Withdrawal of Active Treatment (LWAT) file on the treatment of these newborns. METHODS: In this monocentric retrospective study, we reviewed all consecutive neonatal deaths occurring during two three-year periods among patients in the NICU at the North Hospital of Marseille: cohort 1 (from 2009 to 2011 without the LWAT file) and cohort 2 (from 2013 to 2015 after introduction of the LWAT file)...
May 17, 2018: BMC Palliative Care
https://www.readbyqxmd.com/read/29772244/gender-difference-in-the-effect-of-progesterone-on-neonatal-hypoxic-ischemic-brain-injury-in-mouse
#7
Shuyu Dong, Qian Zhang, Delian Kong, Chao Zhou, Jie Zhou, Jingjing Han, Yan Zhou, Guoliang Jin, Xiaodong Hua, Jun Wang, Fang Hua
This study was to investigate the effects of progesterone (PROG) on neonatal hypoxic/ischemic (NHI) brain injury, the differences in effects between genders, and the underlying mechanisms. NHI brain injury was established in both male and female neonatal mice induced by occlusion of the left common carotid artery followed by hypoxia. The mice were treated with PROG or vehicle. Fluoro-Jade B staining (F-JB), long term behavior testing, and brain magnetic resonance image (MRI) were applied to evaluate neuronal death, neurological function, and brain damage...
May 14, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29768519/influence-of-growth-hormone-replacement-on-neurological-and-psychomotor-development-case-report
#8
Felipe Motta, Adriana Pasmanik Eisencraft, Lindiane Gomes Crisostomo
The height response to the use of growth hormone in short height cases has already been confirmed in the literature. The influence of the insulin-like growth factor 1 (GH-IGF1) axis components on development, function, regeneration, neuroprotection, cognition, and motor functions has been evaluated in experimental studies and in adults with central nervous system lesions. However, there is still little research on the clinical impact of hormone replacement on neurological and psychomotor development. This report presents the case of a patient with excellent weight-height recovery and, even more surprisingly, neurological and psychomotor development in response to use of growth hormone...
May 14, 2018: Einstein
https://www.readbyqxmd.com/read/29768370/a-case-report-of-neurological-complications-owing-to-lately-diagnosed-hyperargininemia-emphasizing-the-role-of-national-neonatal-screening-policies-in-the-kingdom-of-bahrain
#9
Moiz Bakhiet, Aminah M I AlAwadi, Maryam M AlHammadi, Maryam F Ali, Noora Butti
INTRODUCTION: Arginine is an essential amino acid that plays an important role in various body functions including cell division, wound healing, removal of ammonia, immune function, and release of hormones. Hyperargininemia, an autosomal recessive genetic disorder, is considered one of the least common urea cycle disorders. It rarely presents in the neonatal period but rather appears in children at the age between 2 and 4 years. CASE PRESENTATION: Herein, we demonstrate a case of a 14-year-old female who presented to the neurology clinic with several neurological complications, which were found to be a consequence of high levels of arginine discovered after performing a metabolic screening test...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29765933/a-pilot-study-of-inhaled-co-therapy-in-neonatal-hypoxia-ischemia-carboxyhemoglobin-concentrations-and-brain-volumes
#10
Martha Douglas-Escobar, Monique Mendes, Candace Rossignol, Nikolay Bliznyuk, Ariana Faraji, Abdullah S Ahmad, Sylvain Doré, Michael D Weiss
Objective: The objective of this pilot study was to start evaluating the efficacy and the safety (i.e., carboxyhemoglobin concentration of carbon monoxide (CO)) as a putative neuroprotective therapy in neonates. Study Design: Neonatal C57BL/6 mice were exposed to CO at a concentration of either 200 or 250 ppm for a period of 1 h. The pups were then sacrificed at 0, 10, 20, 60, 120, 180, and 240 min after exposure to either concentration of CO, and blood was collected for analysis of carboxyhemoglobin. Following the safety study, 7-day-old pups underwent a unilateral carotid ligation...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29765787/liver-failure-and-conjugated-hyperbilirubinemia-in-a-preterm-neonate-role-of-early-ivig-and-exchange-transfusion
#11
Jayasree Nair, Vasantha H S Kumar
Neonatal liver failure (NLF) is a rare diagnosis but carries with it significant risks of mortality and morbidity. Common etiologies for NLF include metabolic causes, gestational alloimmune liver disease (GALD or neonatal hemochromatosis), and viral infections. We report a case of liver failure in a premature infant with abnormal iron profile within 48 hours of birth. Lack of accepted guidelines for the initial management of severe jaundice with a high direct component in the first week after birth made treatment challenging...
April 2018: American Journal of Perinatology Reports
https://www.readbyqxmd.com/read/29763893/patterns-of-infancy-growth-and-metabolic-hormonal-profile-are-different-in-very-low-birth-weight-preterm-infants-born-small-for-gestational-age-compared-to-those-born-appropriate-for-gestational-age
#12
María Isabel Hernandez, Katherine Rossel, Veronica Peña, Mirna Garcia, Gabriel Cavada, Alejandra Avila, German Iñiguez, Verónica Mericq
BACKGROUND/AIMS: An increased preterm birth survival rate is associated with long-term neurological and metabolic risks; thus, our aim was to evaluate whether early patterns of infancy anthropometry and metabolic hormonal profile differ in preterm infants born small for gestational age (SGA) or appropriate for gestational age (AGA) from birth to 36 months of corrected age (CA). METHODS: We recruited 110 very-low-birth-weight (VLBW) preterm infants (AGA = 60 and SGA = 50) with a mean birth weight of -2...
May 15, 2018: Hormone Research in Pædiatrics
https://www.readbyqxmd.com/read/29763644/immunomodulatory-effect-of-celecoxib-on-hmgb1-tlr4-pathway-in-a-recurrent-seizures-model-in-immature-rats
#13
Mariana Morales-Sosa, Sandra Orozco-Suárez, AngélicaVega-García, Sara Caballero-Chacón, Iris A Feria-Romero
Epileptic seizures constitute an important problem in pediatric neurology during the developmental period. The frequency and nosological significance of seizures, as well as their association with epileptogenesis, may be related to underlying mechanisms such as neuroinflammation. Those mechanisms of response activate inflammatory molecules induced in the neurons, activated glial cells and endothelial cells via the key HMGB1/TLR4 pathway. In this study, the drug celecoxib (CCX) was used as a blocker of the cyclooxygenase 2 (COX-2) and HMGB1/TLR-4 pathways...
May 12, 2018: Pharmacology, Biochemistry, and Behavior
https://www.readbyqxmd.com/read/29757778/a-contemporary-analysis-of-medicolegal-issues-in-obstetric-anesthesia-between-2005-and-2015
#14
Vesela P Kovacheva, Ethan Y Brovman, Penny Greenberg, Ellen Song, Arvind Palanisamy, Richard D Urman
BACKGROUND: Detailed reviews of closed malpractice claims have provided insights into the most common events resulting in litigation and helped improve anesthesia care. In the past 10 years, there have been multiple safety advancements in the practice of obstetric anesthesia. We investigated the relationship among contributing factors, patient injuries, and legal outcome by analyzing a contemporary cohort of closed malpractice claims where obstetric anesthesiology was the principal defendant...
May 10, 2018: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/29757724/neuroimaging-findings-of-organic-acidemias-and-aminoacidopathies
#15
Nihaal Reddy, Sonia F Calloni, Hilary J Vernon, Eugen Boltshauser, Thierry A G M Huisman, Bruno P Soares
Although individual cases of inherited metabolic disorders are rare, overall they account for a substantial number of disorders affecting the central nervous system. Organic acidemias and aminoacidopathies include a variety of inborn errors of metabolism that are caused by defects in the intermediary metabolic pathways of carbohydrates, amino acids, and fatty acid oxidation. These defects can lead to the abnormal accumulation of organic acids and amino acids in multiple organs, including the brain. Early diagnosis is mandatory to initiate therapy and prevent permanent long-term neurologic impairments or death...
May 2018: Radiographics: a Review Publication of the Radiological Society of North America, Inc
https://www.readbyqxmd.com/read/29757270/establishing-mouse-models-for-zika-virus-induced-neurological-disorders-using-intracerebral-injection-strategies-embryonic-neonatal-and-adult
#16
Stephanie A Herrlinger, Qiang Shao, Li Ma, Melinda Brindley, Jian-Fu Chen
The Zika virus (ZIKV) is a flavivirus currently endemic in North, Central, and South America. It is now established that the ZIKV can cause microcephaly and additional brain abnormalities. However, the mechanism underlying the pathogenesis of ZIKV in the developing brain remains unclear. Intracerebral surgical methods are frequently used in neuroscience research to address questions about both normal and abnormal brain development and brain function. This protocol utilizes classical surgical techniques and describes methods that allow one to model ZIKV-associated human neurological disease in the mouse nervous system...
April 26, 2018: Journal of Visualized Experiments: JoVE
https://www.readbyqxmd.com/read/29756726/-neonatal-facial-palsy-identification-of-herpes-simplex-virus-1-in-cerebrospinal-fluid-case-report
#17
Simón Lubián López, Juan J Pérez Guerrero, Patricia Salazar Oliva, Isabel Benavente Fernández
Neonatal facial palsy is very uncommon and is generally diagnosed at birth. We present the first published case of neonatal facial palsy with identification of herpes simplex virus 1 in cerebrospinal fluid. A 35-day-old male was presented at the Emergency Department with mouth deviation to the left and impossibility of full closure of the right eye. There were no symptoms of infection or relevant medical history. Physical examination was compatible with peripheral facial palsy. Studies performed at admission were normal (blood count, biochemical analysis and coagulation blood tests and cerebrospinal fluid analysis)...
June 1, 2018: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/29755962/acceptability-of-bedside-resuscitation-with-intact-umbilical-cord-to-clinicians-and-patients-families-in-the-united-states
#18
Anup C Katheria, Samuel R Sorkhi, Kasim Hassen, Arij Faksh, Zahra Ghorishi, Debra Poeltler
Background: While delayed umbilical cord clamping in preterm infants has shown to improve long-term neurological outcomes, infants who are thought to need resuscitation do not receive delayed cord clamping even though they may benefit the most. A mobile resuscitation platform allows infants to be resuscitated at the mother's bedside with the cord intact. The newborn is supplied with placental blood during the resuscitation in view of the mother. The objective of the study is to assess the usability and acceptability of mobile resuscitation platform, LifeStart trolley, among the infants' parents and perinatal providers...
2018: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29755326/transient-hypothyroidism-during-lactation-arrests-myelination-in-the-anterior-commissure-of-rats-a-magnetic-resonance-image-and-electron-microscope-study
#19
Federico S Lucia, Jesús Pacheco-Torres, Susana González-Granero, Santiago Canals, María-Jesús Obregón, José M García-Verdugo, Pere Berbel
Thyroid hormone deficiency at early postnatal ages affects the cytoarchitecture and function of neocortical and telencephalic limbic areas, leading to impaired associative memory and in a wide spectrum of neurological and mental diseases. Neocortical areas project interhemispheric axons mostly through the corpus callosum and to a lesser extent through the anterior commissure (AC), while limbic areas mostly project through the AC and hippocampal commissures. Functional magnetic resonance data from children with late diagnosed congenital hypothyroidism and abnormal verbal memory processing, suggest altered ipsilateral and contralateral telencephalic connections...
2018: Frontiers in Neuroanatomy
https://www.readbyqxmd.com/read/29754417/teaching-paediatric-basic-life-support-in-medical-schools-using-peer-teaching-or-video-demonstration-a-prospective-randomised-trial
#20
Frederik Stephan, Hanjo Groetschel, Anja K Büscher, Deniz Serdar, Kjell A Groes, Rainer Büscher
AIM: The outcome of children with an out-of-hospital cardiac arrest is still poor, but bystander cardiopulmonary resuscitation can increase survival and minimise severe neurological sequelae. While teaching basic life support is standardised in emergency medicine classes, paediatric basic life support (PBLS) in neonates and toddlers is under-represented in paediatric curricula during university education. The appropriate mixture of E-learning and peer teaching lessons remains controversial in teaching paediatric basic skills...
May 13, 2018: Journal of Paediatrics and Child Health
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