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Neonatal encephalopathy

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https://www.readbyqxmd.com/read/29673052/continuous-electronic-fetal-heart-rate-monitoring-in-labour-is-a-screening-test-not-a-diagnostic-test
#1
P J Steer
There has been controversy about the value of continuous electronic fetal heart rate recording ever since it was introduced in the 1960s. Frey et al (BJOG 2018 in this issue) assessed the relationship of abnormal fetal heart rate (FHR) patterns in labour with neonatal encephalopathy. The authors say "139 (of 342) women had no FHR tracing data within 60 minutes of delivery. This article is protected by copyright. All rights reserved.
April 19, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29663568/abnormal-function-of-the-uba5-protein-in-a-case-of-early-developmental-and-epileptic-encephalopathy-with-suppression-burst
#2
Cécile Mignon-Ravix, Mathieu Milh, Charlotte Sophia Kaiser, Jens Daniel, Florence Riccardi, Pierre Cacciagli, Majdi Nagara, Tiffany Busa, Eva Liebau, Laurent Villard
Early myoclonic epilepsy or Aicardi syndrome (EME) is one of the most severe epileptic syndromes affecting neonates. We performed whole exome sequencing in a sporadic case affected by EME and his parents. In the proband we identified a homozygous missense variant in the ubiquitin-like modifier activating enzyme 5 (UBA5) gene, encoding a protein involved in post-translational modifications. Functional analysis of the UBA5 variant protein reveals that it is almost completely unable to perform its trans-thiolation activity...
April 16, 2018: Human Mutation
https://www.readbyqxmd.com/read/29658514/maternal-or-neonatal-infection-association-with-neonatal-encephalopathy-outcomes
#3
Meike Jenster, Sonia L Bonifacio, Theodore Ruel, Elizabeth E Rogers, Emily W Tam, John Colin Partridge, Anthony James Barkovich, Donna M Ferriero, Hannah C Glass
This corrects the article DOI: 10.1038/pr.2014.47.
March 2018: Pediatric Research
https://www.readbyqxmd.com/read/29656858/a-recurrent-de-novo-pacs2-heterozygous-missense-variant-causes-neonatal-onset-developmental-epileptic-encephalopathy-facial-dysmorphism-and-cerebellar-dysgenesis
#4
Heather E Olson, Nolwenn Jean-Marçais, Edward Yang, Delphine Heron, Katrina Tatton-Brown, Paul A van der Zwaag, Emilia K Bijlsma, Bryan L Krock, E Backer, Erik-Jan Kamsteeg, Margje Sinnema, Margot R F Reijnders, David Bearden, Amber Begtrup, Aida Telegrafi, Roelineke J Lunsing, Lydie Burglen, Gaetan Lesca, Megan T Cho, Lacey A Smith, Beth R Sheidley, Christelle Moufawad El Achkar, Phillip L Pearl, Annapurna Poduri, Cara M Skraban, Jennifer Tarpinian, Addie I Nesbitt, Dietje E Fransen van de Putte, Claudia A L Ruivenkamp, Patrick Rump, Nicolas Chatron, Isabelle Sabatier, Julitta De Bellescize, Laurent Guibaud, David A Sweetser, Jessica L Waxler, Klaas J Wierenga, Jean Donadieu, Vinodh Narayanan, Keri M Ramsey, Caroline Nava, Jean-Baptiste Rivière, Antonio Vitobello, Frédéric Tran Mau-Them, Christophe Philippe, Ange-Line Bruel, Yannis Duffourd, Laurel Thomas, Stefan H Lelieveld, Janneke Schuurs-Hoeijmakers, Han G Brunner, Boris Keren, Julien Thevenon, Laurence Faivre, Gary Thomas, Christel Thauvin-Robinet
Developmental and epileptic encephalopathies (DEEs) represent a large clinical and genetic heterogeneous group of neurodevelopmental diseases. The identification of pathogenic genetic variants in DEEs remains crucial for deciphering this complex group and for accurately caring for affected individuals (clinical diagnosis, genetic counseling, impacting medical, precision therapy, clinical trials, etc.). Whole-exome sequencing and intensive data sharing identified a recurrent de novo PACS2 heterozygous missense variant in 14 unrelated individuals...
April 10, 2018: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29655964/infant-outcome-after-complete-uterine-rupture
#5
Iqbal Al-Zirqi, Anne Kjersti Daltveit, Siri Vangen
BACKGROUND: Complete uterine rupture is a rare peripartum complication often associated with a catastrophic outcome for both mother and child. However, little has been written based on large data sets about maternal and infant outcome after complete ruptures. This is partly due to the rarity of the event and the serious maternal and infant outcome; it is also partly due to the use of international diagnostic codes that do not differentiate between the less catastrophic partial rupture and more catastrophic complete uterine rupture...
April 12, 2018: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29651749/medium-chain-triglycerides-supplement-therapy-with-a-low-carbohydrate-formula-can-supply-energy-and-enhance-ammonia-detoxification-in-the-hepatocytes-of-patients-with-adult-onset-type-ii-citrullinemia
#6
Kiyoshi Hayasaka, Chikahiko Numakura, Mitsunori Yamakawa, Tetsuo Mitsui, Hisayoshi Watanabe, Hiroaki Haga, Masahide Yazaki, Hiromasa Ohira, Yasuo Ochiai, Toshiyuki Tahara, Tamio Nakahara, Noriyo Yamashiki, Takahiro Nakayama, Takashi Kon, Hiroshi Mitsubuchi, Hiroshi Yoshida
Citrin, encoded by SLC25A13, constitutes the malate-aspartate shuttle, the main NADH-shuttle in the liver. Citrin deficiency causes neonatal intrahepatic cholestasis (NICCD) and adult-onset type II citrullinemia (CTLN2). Citrin deficiency is predicted to impair hepatic glycolysis and de novo lipogenesis, resulting in hepatic energy deficit. Secondary decrease in hepatic argininosuccinate synthetase (ASS1) expression has been considered a cause of hyperammonemia in CTLN2. We previously reported that medium-chain triglyceride (MCT) supplement therapy with a low-carbohydrate formula was effective in CTLN2 to prevent a relapse of hyperammonemic encephalopathy...
April 12, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29648595/progesterone-as-a-postnatal-prophylactic-agent-for-encephalopathy-caused-by-prenatal-hypoxic-ischemic-insult
#7
Yoshimasa Kawarai, Hirokazu Tanaka, Tatsuya Kobayashi, Makio Shozu
Brain damage caused by hypoxic ischemic insult during the perinatal period causes hypoxic ischemic encephalopathies (HIEs). Therapeutic hypothermia is indicated for HIE, but since the therapeutic burden is large for its limited therapeutic effectiveness, another strategy is needed. Progesterone (P4) plays a neuroprotective role through the actions of its metabolite, allopregnanolone (Allo), on P4 receptor, GABA (γ-aminobutyric acid)A receptors or both. We examined the therapeutic potential of P4 using a newborn rat model of HIE...
April 10, 2018: Endocrinology
https://www.readbyqxmd.com/read/29629692/cooling-therapy-for-neonatal-encephalopathy-in-low-and-middle-income-countries
#8
EDITORIAL
Sudhin Thayyil
No abstract text is available yet for this article.
March 15, 2018: Indian Pediatrics
https://www.readbyqxmd.com/read/29625873/-lower-uterine-segment-trial-a-pragmatic-open-multicenter-randomized-trial
#9
P Rozenberg, P Deruelle, M-V Sénat, R Desbrière, N Winer, E Simon, Y Ville, G Kayem, I Boutron
BACKGROUND: The data from literature show that trial of labor and elective repeat cesarean delivery after a prior cesarean delivery both present significant risks and benefits, and these risks and benefits differ for the woman and her fetus. The benefits to the woman can be at the expense of her fetus and vice-versa. This uncertainty is compounded by the scarcity of high-level evidence that preclude accurate quantification of the risks and benefits that could help provide a fair counseling about a trial of labor and elective repeat cesarean delivery...
April 4, 2018: Gynecologie, Obstetrique, Fertilite & Senologie
https://www.readbyqxmd.com/read/29625812/scn2a-mutation-in-an-infant-presenting-with-migrating-focal-seizures-and-infantile-spasm-responsive-to-a-ketogenic-diet
#10
Da-Jyun Su, Jyh-Feng Lu, Li-Ju Lin, Jao-Shwann Liang, Kun-Long Hung
SCN2A mutations have been identified in various encephalopathy phenotypes, ranging from benign familial neonatal-infantile seizure (BFNIS) to more severe forms of epileptic encephalopathy such as Ohtahara syndrome or epilepsy of infancy with migrating focal seizure (EIMFS). Thus far, no particularly effective treatment is available for severe epileptic encephalopathy caused by SCN2A mutations in children. We present the case of a boy who developed seizures on the third day of life and received a diagnosis of EIMFS based on his clinical presentations and electroencephalography reports...
April 3, 2018: Brain & Development
https://www.readbyqxmd.com/read/29622488/cerebral-autoregulation-and-conventional-and-diffusion-tensor-imaging-magnetic-resonance-imaging-in-neonatal-hypoxic-ischemic-encephalopathy
#11
Melisa Carrasco, Jamie Perin, Jacky M Jennings, Charlamaine Parkinson, Maureen M Gilmore, Raul Chavez-Valdez, An N Massaro, Raymond C Koehler, Frances J Northington, Aylin Tekes, Jennifer K Lee
BACKGROUND: Deviation of mean arterial blood pressure (MAP) from the range that optimizes cerebral autoregulatory vasoreactivity (optimal MAP) could increase neurological injury from hypoxic-ischemic encephalopathy (HIE). We tested whether a global magnetic resonance imaging (MRI) brain injury score and regional diffusion tensor imaging (DTI) are associated with optimal MAP in neonates with HIE. METHODS: Twenty-five neonates cooled for HIE were monitored with the hemoglobin volume index...
April 2, 2018: Pediatric Neurology
https://www.readbyqxmd.com/read/29608930/atomoxetine-a-selective-norepinephrine-reuptake-inhibitor-improves-short-term-histological-outcomes-after-hypoxic-ischemic-brain-injury-in-the-neonatal-male-rat
#12
Masatake Toshimitsu, Yoshimasa Kamei, Mari Ichinose, Takahiro Seyama, Shinya Imada, Takayuki Iriyama, Tomoyuki Fujii
BACKGROUND: Despite the recent progress of perinatal medicine, perinatal hypoxic-ischemic (HI) insult remains an important cause of brain injury in neonates, and is pathologically characterized by neuronal loss and the presence of microglia. Neurotransmitters, such as norepinephrine (NE) and glutamate, are involved in the pathogenesis of hypoxic-ischemic encephalopathy via the interaction between neurons and microglia. Although it is well known that the monoamine neurotransmitter NE acts as an anti-inflammatory agent in the brain under pathological conditions, its effects on perinatal HI insult remains elusive...
March 30, 2018: International Journal of Developmental Neuroscience
https://www.readbyqxmd.com/read/29595551/exploring-parent-experience-of-communication-about-therapeutic-hypothermia-in-the-neonatal-intensive-care-unit
#13
Alexa K Craig, Roslyn Gerwin, Janelle Bainter, Scott Evans, Christine James
BACKGROUND: The unique communication challenges faced by parents of infants undergoing therapeutic hypothermia have not been well characterized. PURPOSE: To develop awareness of communication challenges experienced by families of infants treated with therapeutic hypothermia. METHODS: Semistructured interviews were conducted in a group setting with parents matched into groups according to the severity of the infant's presenting encephalopathy...
April 2018: Advances in Neonatal Care: Official Journal of the National Association of Neonatal Nurses
https://www.readbyqxmd.com/read/29595192/blockade-of-the-swelling-induced-chloride-current-attenuates-the-mouse-neonatal-hypoxic-ischemic-brain-injury-in-vivo
#14
Raymond Wong, Ahmed Abussaud, Joseph Wh Leung, Bao-Feng Xu, Fei-Ya Li, Sammen Huang, Nai-Hong Chen, Guan-Lei Wang, Zhong-Ping Feng, Hong-Shuo Sun
Activation of swelling-induced Cl- current (ICl,swell ) during neonatal hypoxia-ischemia (HI) may induce brain damage. Hypoxic-ischemic brain injury causes chronic neurological morbidity in neonates as well as acute mortality. In this study, we investigated the role of ICl,swell in hypoxic-ischemic brain injury using a selective blocker, 4-(2-butyl-6,7-dichloro-2-cyclopentylindan-1-on-5-yl) oxybutyric acid (DCPIB). In primary cultured cortical neurons perfusion of a 30% hypotonic solution activated ICl,swell , which was completely blocked by the application of DCPIB (10 μmol/L)...
March 29, 2018: Acta Pharmacologica Sinica
https://www.readbyqxmd.com/read/29593357/patterns-of-acute-bilirubin-encephalopathy-in-nigeria-a-multicenter-pre-intervention-study
#15
Udochukwu M Diala, Richard P Wennberg, Isa Abdulkadir, Zubaida L Farouk, Carlos D Coda Zabetta, Efe Omoyibo, Abieyuwa Emokpae, Aleksandr Aravkin, Bose Toma, Stephen Oguche, Tina Slusher
BACKGROUND: Acute bilirubin encephalopathy (ABE) is an important cause of neonatal morbidity in Nigeria, accounting for 5-14% of neonatal deaths. Most newborns with severe ABE have irreversible damage before receiving treatment emphasizing the need for timely pre-admission monitoring and referral. There is limited evidence that educational interventions targeting mothers and health care providers will reduce delayed care. OBJECTIVE: To provide baseline data on the incidence of ABE and associated pre-admission risk factors in five centers of Nigeria in order to evaluate the effect of subsequent educational interventions on outcome...
March 28, 2018: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29588985/ketogenic-parenteral-nutrition-in-17-pediatric-patients-with-epilepsy
#16
Anastasia Dressler, Nadja Haiden, Petra Trimmel-Schwahofer, Franz Benninger, Sharon Samueli, Gudrun Gröppel, Sina Spatzierer, Angelika Mühlebner, Klaus Abraham, Martha Feucht
Objective: Ketogenic parenteral nutrition (kPN) is indicated when enteral intake is temporarily limited or impossible, but evidence-based prescriptions are lacking. Objective was to evaluate the efficacy and safety of kPN in children with epileptic encephalopathies using a new computer-based algorithm for accurate component calculating. Methods: Children with epilepsy receiving kPN were included. A computer-based algorithm was established on the basis of guidelines of the European Society for Paediatric Gastroenterology, Hepatology and Nutrition (ESPGHAN): fat intake not exceeding 4 g/kg/day, age-adequate supply of protein, electrolytes, vitamins, and trace elements, but reduced carbohydrates...
March 2018: Epilepsia open
https://www.readbyqxmd.com/read/29588952/gene-panel-analysis-for-nonsyndromic-cryptogenic-neonatal-infantile-epileptic-encephalopathy
#17
Cheuk-Wing Fung, Anna Ka-Yee Kwong, Virginia Chun-Nei Wong
Objective: Epileptic encephalopathy (EE) is a heterogeneous condition associated with deteriorations of cognitive, sensory and/or motor functions as a consequence of epileptic activity. The phenomenon is the most common and severe in infancy and early childhood. Genetic-based diagnosis in EE patients is challenging owing to genetic and phenotypic heterogeneity of numerous monogenic disorders and the fact that thousands of genes are involved in neurodevelopment. Therefore, high-throughput next-generation sequencing (NGS) was used to investigate the genetic causes of non-syndromic cryptogenic neonatal/infantile EE (NIEE)...
June 2017: Epilepsia Open
https://www.readbyqxmd.com/read/29579759/risk-factors-for-neonatal-hypoxic-ischemic-encephalopathy-in-the-absence-of-sentinel-events
#18
Christopher M Novak, Ahize C Eke, Maide Ozen, Irina Burd, Ernest M Graham
OBJECTIVE:  Hypoxic-ischemic encephalopathy (HIE) may be associated with intrapartum sentinel events or may be unexplained. We sought to identify risk factors for unexplained HIE cases and compare their morbidity and mortality to cases associated with sentinel events. STUDY DESIGN:  Retrospective cohort study of all neonates admitted with suspected HIE treated with whole-body hypothermia from January 2007 through July 2017. Cases of unexplained HIE were compared with those with a sentinel event...
March 26, 2018: American Journal of Perinatology
https://www.readbyqxmd.com/read/29575562/an-evaluation-of-fetal-heart-rate-characteristics-associated-with-neonatal-encephalopathy-a-case-control-study
#19
Heather A Frey, Xiaohua Liu, Courtney D Lynch, Wanjiku Musindi, Philip Samuels, Kara M Rood, Stephen F Thung, Juliana M Bakk, Weiwei Cheng, Mark B Landon
OBJECTIVE: We sought to identify fetal heart rate (FHR) characteristics that are associated with neonatal encephalopathy (NE). DESIGN: Retrospective case-control study. SETTING: A single medical center in Shanghai, China, 2006-2015. SAMPLE: Women delivering a singleton, non-anomalous infant at ≥36 weeks gestation diagnosed with NE (cases, n=109) were compared to a group of women with unaffected infants (controls, n=233)...
March 25, 2018: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/29571928/hemodynamic-changes-during-rewarming-phase-of-whole-body-hypothermia-therapy-in-neonates-with-hypoxic-ischemic-encephalopathy
#20
Tai-Wei Wu, Benita Tamrazi, Sadaf Soleymani, Istvan Seri, Shahab Noori
OBJECTIVE: To delineate the systemic and cerebral hemodynamic response to incremental increases in core temperature during the rewarming phase of therapeutic hypothermia in neonatal hypoxic-ischemic encephalopathy (HIE). STUDY DESIGN: Continuous hemodynamic data, including heart rate (HR), mean arterial blood pressure (MBP), cardiac output by electrical velocimetry (COEV ), arterial oxygen saturation, and renal (RrSO2 ) and cerebral (CrSO2 ) regional tissue oxygen saturation, were collected from 4 hours before the start of rewarming to 1 hour after the completion of rewarming...
March 20, 2018: Journal of Pediatrics
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