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https://www.readbyqxmd.com/read/29342275/hot-spot-kif5a-mutations-cause-familial-als
#1
David Brenner, Rüstem Yilmaz, Kathrin Müller, Torsten Grehl, Susanne Petri, Thomas Meyer, Julian Grosskreutz, Patrick Weydt, Wolfgang Ruf, Christoph Neuwirth, Markus Weber, Susana Pinto, Kristl G Claeys, Berthold Schrank, Berit Jordan, Antje Knehr, Kornelia Günther, Annemarie Hübers, Daniel Zeller, Christian Kubisch, Sibylle Jablonka, Michael Sendtner, Thomas Klopstock, Mamede de Carvalho, Anne Sperfeld, Guntram Borck, Alexander E Volk, Johannes Dorst, Joachim Weis, Markus Otto, Joachim Schuster, Kelly Del Tredici, Heiko Braak, Karin M Danzer, Axel Freischmidt, Thomas Meitinger, Tim M Strom, Albert C Ludolph, Peter M Andersen, Jochen H Weishaupt
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and Charcot-Marie-Tooth disease type 2 (CMT2). Moreover, heterozygous de novo frame-shift mutations in the C-terminal domain of KIF5A are associated with neonatal intractable myoclonus, a neurodevelopmental syndrome. These findings, together with the observation that many of the disease genes associated with amyotrophic lateral sclerosis disrupt cytoskeletal function and intracellular transport, led us to hypothesize that mutations in KIF5A are also a cause of amyotrophic lateral sclerosis...
January 12, 2018: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/29334920/factors-influencing-access-of-pregnant-women-and-their-infants-to-their-local-healthcare-system-a-prospective-multi-centre-observational-study
#2
Shabir A Madhi, Luis M Rivera, Xavier Sáez-Llorens, Clara Menéndez, Nazira Carrim-Ganey, Mark F Cotton, Darren Katzman, Mariëtha M Luttig, Rosalba Candelario, Sherryl Baker, Mahua Roychoudhury
BACKGROUND: The successful implementation of maternal vaccination relies on results of clinical trials, considering the prenatal and postnatal attendance at selected healthcare institutions. This study evaluated factors influencing maternal/infant access to healthcare facilities to identify potential barriers to participation in future clinical trials on maternal vaccination. METHODS: In this prospective, multi-centre, observational study, pregnant women (N = 3243) were enrolled at ten sites across Panama, the Dominican Republic, South Africa, and Mozambique between 2012 and 2014...
January 15, 2018: BMC Pregnancy and Childbirth
https://www.readbyqxmd.com/read/29332782/long-distance-nonstop-neonatal-transport-from-shanghai-china-to-genoa-italy
#3
Carlo Bellini, Simona Serveli, Luigi A, Pietro M, Daniele S, Luca A Ramenghi, Tiziana Cinti, Francesco Campone
The purpose of this article is to describe the long-distance, nonstop intercontinental transport of a severely ill, mechanically ventilated newborn from Shanghai, China, to Genoa, Italy focusing in particular on the clinical and planning difficulties. The aircraft equipment, the assessment and preparation for transport are discussed.
January 2018: Air Medical Journal
https://www.readbyqxmd.com/read/29332775/development-and-testing-of-a-neonatal-intubation-checklist-for-an-air-medical-transport-team
#4
Lisa A Davidson, Richard B Utarnachitt, Andrew Mason, Taylor Sawyer
OBJECTIVE: We developed a Neonatal Intubation Checklist for Airlift Northwest. Our goal was to improve the preparation, technical proficiency, and safety of neonatal intubation without increasing the time required to perform the procedure. METHODS: The Neonatal Intubation Checklist, a "call and response" checklist for neonatal intubation, was developed. Its effectiveness was evaluated during a baseline assessment and 2 practice sessions after a checklist orientation...
January 2018: Air Medical Journal
https://www.readbyqxmd.com/read/29330886/surgery-and-magnetic-resonance-imaging-increase-the-risk-of-hypothermia-in-infants
#5
Joel M Don Paul, Elizabeth J Perkins, Prue M Pereira-Fantini, Asha Suka, Olivia Farrell, Julia K Gunn, Anushi E Rajapaksa, David G Tingay
AIM: Maintaining normothermia is a tenet of neonatal care. However, neonatal thermal care guidelines applicable to intra-hospital transport beyond the neonatal intensive care unit (NICU) and during surgery or magnetic resonance imaging (MRI) are lacking. The aim of this study is to determine the proportion of infants normothermic (36.5-37.5°C) on return to NICU after management during surgery and MRI, and during standard clinical care in both environments. METHODS: Sixty-two newborns requiring either surgery in the operating theatre (OT) (n = 41) or an MRI scan (n = 21) at the Royal Children's Hospital (Melbourne) NICU were prospectively studied...
January 13, 2018: Journal of Paediatrics and Child Health
https://www.readbyqxmd.com/read/29326137/expression-changes-in-lactate-and-glucose-metabolism-and-associated-transporters-in-basal-ganglia-following-hypoxic-ischemic-reperfusion-injury-in-piglets
#6
Y Zheng, X-M Wang
BACKGROUND AND PURPOSE: The neonatal brain has active energy metabolism, and glucose oxidation is the major energy source of brain tissue. Lactate is produced by astrocytes and released to neurons. In the central nervous system, lactate is transported between neurons and astrocytes via the astrocyte-neuron lactate shuttle. The aim of this study was to investigate the regulatory mechanisms of energy metabolism in neurons and astrocytes in the basal ganglia of a neonatal hypoxic-ischemic brain injury piglet model...
January 11, 2018: AJNR. American Journal of Neuroradiology
https://www.readbyqxmd.com/read/29325421/effects-of-underwater-bubble-cpap-on-very-low-birth-weight-preterm-newborns-in-the-delivery-room-and-after-transport-to-the-neonatal-intensive-care-unit
#7
Vera Lucia Barros Abelenda, Tania Cristina Oliveira Valente, Cirlene Lima Marinho, Agnaldo José Lopes
The development of less invasive ventilatory strategies in very-low-birth-weight (VLBW) preterm newborns has been a growing concern in recent decades. This study aimed to measure differences in the clinical progression of preterm newborns using two distinct periods in a university hospital: before and after using underwater bubble continuous positive airway pressure (ubCPAP). This is a retrospective study of VLBW preterm newborns with gestational ages less than or equal to 32 weeks admitted to the neonatal intensive care unit...
January 1, 2018: Journal of Child Health Care: for Professionals Working with Children in the Hospital and Community
https://www.readbyqxmd.com/read/29325094/functional-rescue-of-misfolding-abca3-mutations-by-small-molecular-correctors
#8
Susanna Kinting, Stefanie Höppner, Ulrike Schindlbeck, Maria E Forstner, Jacqueline Harfst, Thomas Wittmann, Matthias Griese
ABCA3, a phospholipid transporter in lung lamellar bodies (LB), is essential for the assembly of pulmonary surfactant and LB biogenesis. Mutations in the ABCA3 gene are an important genetic cause for respiratory distress syndrome in neonates and interstitial lung disease in children and adults, for which there is currently no cure.The aim of this study was to prove that disease causing misfolding ABCA3 mutations can be corrected in vitro and to investigate available options for correction.We stably expressed HA-tagged wild type ABCA3 or variants p...
January 9, 2018: Human Molecular Genetics
https://www.readbyqxmd.com/read/29319897/application-of-a-physiologically-based-pharmacokinetic-model-for-the-prediction-of-bumetanide-plasma-and-brain-concentrations-in-the-neonate
#9
Maria D Donovan, Khaled Abduljalil, John F Cryan, Geraldine B Boylan, Brendan T Griffin
Bumetanide is a loop diuretic that is proposed to possess a beneficial effect on disorders of the central nervous system, including neonatal seizures. Therefore, prediction of unbound bumetanide concentrations in brain is relevant from a pharmacological prospective. A physiologically-based pharmacokinetic (PBPK) model was developed for the prediction of bumetanide disposition in plasma and brain in adult and pediatric populations. A compound file was built for bumetanide integrating physicochemical data and in vitro data...
January 10, 2018: Biopharmaceutics & Drug Disposition
https://www.readbyqxmd.com/read/29318613/a-facility-based-study-of-factors-associated-with-perinatal-mortality-in-tigray-northern-ethiopia
#10
Gelila K Goba, Hailesilassie Tsegay, Gebremedhin Berhe, Mengistu Mitiku, Kimberly A Kim, Mussie Alemayehu
OBJECTIVE: To identify perinatal mortality risk factors in the Southern Zone of Tigray, northern Ethiopia. METHODS: The present unmatched case-control study included data from 20 health facilities; stillbirths and neonatal deaths were included as a case group and patients with neonates who survived until discharge or day 7 postpartum were included as a control group. Perinatal mortality risk factors were investigated using bivariate and multivariate logistic regression analyses...
January 9, 2018: International Journal of Gynaecology and Obstetrics
https://www.readbyqxmd.com/read/29306729/adding-to-the-complexity-of-fetal-and-neonatal-alloimmune-thrombocytopenia-reduced-fibrinogen-binding-in-the-presence-of-anti-hpa-1a-antibody-and-hypo-responsive-neonatal-platelets
#11
E Refsum, S Meinke, G Gryfelt, A Wikman, P Höglund
BACKGROUND: In fetal and neonatal alloimmune thrombocytopenia (FNAIT), maternal alloantibodies directed against paternally-derived platelet antigens are transported across the placenta to the fetus, where they may cause thrombocytopenia. The most serious complication of FNAIT is an intracranial hemorrhage (ICH), which may cause death or life-long disability of the child. Apart from alloantibody-mediated platelet destruction, the clinical outcome in FNAIT may be affected by properties of neonatal platelets and possible functional effects on platelets caused by maternal alloantibodies...
December 29, 2017: Thrombosis Research
https://www.readbyqxmd.com/read/29304146/from-early-stress-to-12-month-development-in-very-preterm-infants-preliminary-findings-on-epigenetic-mechanisms-and-brain-growth
#12
Monica Fumagalli, Livio Provenzi, Pietro De Carli, Francesca Dessimone, Ida Sirgiovanni, Roberto Giorda, Claudia Cinnante, Letizia Squarcina, Uberto Pozzoli, Fabio Triulzi, Paolo Brambilla, Renato Borgatti, Fabio Mosca, Rosario Montirosso
Very preterm (VPT) infants admitted to Neonatal Intensive Care Unit (NICU) are at risk for altered brain growth and less-than-optimal socio-emotional development. Recent research suggests that early NICU-related stress contributes to socio-emotional impairments in VPT infants at 3 months through epigenetic regulation (i.e., DNA methylation) of the serotonin transporter gene (SLC6A4). In the present longitudinal study we assessed: (a) the effects of NICU-related stress and SLC6A4 methylation variations from birth to discharge on brain development at term equivalent age (TEA); (b) the association between brain volume at TEA and socio-emotional development (i...
2018: PloS One
https://www.readbyqxmd.com/read/29298832/truncation-of-the-murine-neonatal-fc-receptor-cytoplasmic-tail-does-not-alter-igg-metabolism-or-transport-in-vivo
#13
Yonghe Ma, Cuncun Ke, Zihui Wan, Zili Li, Xueqian Cheng, Xifeng Wang, Jinshan Zhao, Youji Ma, Liming Ren, Haitang Han, Yaofeng Zhao
The neonatal Fc receptor (FcRn) is involved in IgG metabolism and transport in placental mammals. However, whether FcRn is responsible for IgG transfer from maternal serum to colostrum/milk is controversial. Interestingly, large domestic animals, such as cows, pigs, sheep, and horses, in which passive IgG transfer is exclusively completed via colostrum/milk, all express an FcRn α-chain that is shorter in the cytoplasmic tail (CYT) than its counterparts in humans and rodents. To address whether the length variation has any functional significance, we performed in vitro experiments using the Transwell system with the MDCK cell line stably transfected with various FcRn constructs; these clearly suggested that truncation of the CYT tail caused a polar change in IgG transfer...
January 3, 2018: Journal of Immunology: Official Journal of the American Association of Immunologists
https://www.readbyqxmd.com/read/29297386/illness-recognition-decision-making-and-care-seeking-for-maternal-and-newborn-complications-a-qualitative-study-in-sarlahi-district-nepal
#14
Tsering P Lama, Subarna K Khatry, Joanne Katz, Steven C LeClerq, Luke C Mullany
BACKGROUND: Identification of maternal and newborn illness and the decision-making and subsequent care-seeking patterns are poorly understood in Nepal. We aimed to characterize the process and factors influencing recognition of complications, the decision-making process, and care-seeking behavior among families and communities who experienced a maternal complication, death, neonatal illness, or death in a rural setting of Nepal. METHODS: Thirty-two event narratives (six maternal/newborn deaths each and 10 maternal/newborn illnesses each) were collected using in-depth interviews and small group interviews...
December 21, 2017: Journal of Health, Population, and Nutrition
https://www.readbyqxmd.com/read/29296619/4-hydroxybenzoic-acid-restores-coq10-biosynthesis-in-human-coq2-deficiency
#15
Diran Herebian, Annette Seibt, Sander H J Smits, Richard J Rodenburg, Ertan Mayatepek, Felix Distelmaier
The clinical phenotypes of human CoQ10-deficiency caused by COQ2 mutations range from fatal neonatal disease to adult-onset multisystem atrophy. So far, treatment options for these diseases are unsatisfactory. Here, we demonstrate that supplementation of 4-hydroxybenzoic acid (4-HBA) fully restores endogenous CoQ10-biosynthesis in COQ2-deficient cell lines. This was accompanied by increased protein expression of CoQ10-biosynthesis-enzymes as well as a rescue of cell viability during stress conditions. In silico analysis suggested a ligand transportation path for 4-HBA through the COQ2 protein towards the mitochondrial matrix side...
December 2017: Annals of Clinical and Translational Neurology
https://www.readbyqxmd.com/read/29287786/leptin-treatment-prevents-long-term-abnormalities-in-cognition-seizure-threshold-hippocampal-mossy-fiber-sprouting-and-znt3-cb-d28k-expression-in-a-rat-developmental-twist-seizure-model
#16
Hong Ni, Su-Hong Chen, Li-Li Li, Mei-Fang Jin
The mechanism of linking neonatal seizures with long-term brain damage is unclear, and there is no effective drug to block this long-term pathological process. Recently, the fat-derived hormone leptin has been appreciated for its neuroprotective function in neurodegenerative processes, although less is known about the effects of leptin on neonatal seizure-induced brain damage. Here, we developed a "twist" seizure model by coupling pilocarpine-induced neonatal status epilepticus (SE) with later exposure to penicillin to test whether leptin treatment immediately after neonatal SE would exert neuroprotective effects on cognition, seizure threshold and hippocampal mossy fiber sprouting, as well if leptin had any influence on the expression of zinc transporter 3 (ZnT3) and calcium homeostasis-related CB-D28k in the hippocampus...
December 26, 2017: Epilepsy Research
https://www.readbyqxmd.com/read/29282354/using-polyethylene-plastic-bag-to-prevent-moderate-hypothermia-during-transport-in-very-low-birth-weight-infants-a-randomized-trial
#17
Xiao-Jing Hu, Li Wang, Ru-Yi Zheng, Tian-Chan Lv, Yu-Xia Zhang, Yun Cao, Guo-Ying Huang
OBJECTIVE: Hypothermia remains a significant problem among very low birth weight (VLBW) infants. The use of occlusive polyethylene plastic bags immediately after birth has been proven to be effective for preterm infants to reduce hypothermia. This study aims to determine whether placing VLBW infants in plastic bags during transport reduces hypothermia. STUDY DESIGN: Study infants were randomly assigned to a standard thermoregulation protocol or to a standard thermoregulation protocol with placement of the torso and lower extremities inside a polyethylene plastic bag during transport...
December 27, 2017: Journal of Perinatology: Official Journal of the California Perinatal Association
https://www.readbyqxmd.com/read/29282018/why-gone-too-soon-examining-social-determinants-of-neonatal-deaths-in-northwest-ethiopia-using-the-three-delay-model-approach
#18
Tariku Nigatu Bogale, Abebaw Gebeyehu Worku, Gashaw Andargie Bikis, Zemene Tigabu Kebede
BACKGROUND: Without improving the survival of newborns, meaningful reduction in under-five mortality is difficult. Most neonatal deaths are preventable when appropriate and timely care is sought. In Ethiopia, there is lack of evidence on the type and contribution of delays in treatment seeking to neonatal deaths. METHODS: A community based social autopsy (SA) of 39 neonatal deaths was conducted from March 16 to 24, 2016 in Dabat Health and Demographic Surveillance System (HDSS) in northwest Ethiopia...
December 28, 2017: BMC Pediatrics
https://www.readbyqxmd.com/read/29276736/maternal-separation-stress-leads-to-resilience-against-neuropathic-pain-in-adulthood
#19
Julien Genty, Milène Tetsi Nomigni, Fernand Anton, Ulrike Hanesch
Early life stress (ELS) leads to a permanent reprogramming of biochemical stress response cascades that may also be relevant for the processing of chronic pain states such as neuropathy. Despite clinical evidence, little is known about ELS-related vulnerability for neuropathic pain and the possibly underlying etiology. In the framework of experimental studies aimed at investigating the respective relationships we used the established ELS model of maternal separation (MS). Rat dams and neonates were separated for 3 h/day from post-natal day 2-12...
February 2018: Neurobiology of Stress
https://www.readbyqxmd.com/read/29261449/using-social-autopsy-to-understand-maternal-newborn-and-child-mortality-in-low-resource-settings-a-systematic-review-of-the-literature
#20
Cheryl A Moyer, Cassidy Johnson, Elizabeth Kaselitz, Raymond Aborigo
BACKGROUND: Social, cultural, and behavioral factors are often potent upstream contributors to maternal, neonatal, and child mortality, especially in low- and middle-income countries (LMICs). Social autopsy is one method of identifying the impact of such factors, yet it is unclear how social autopsy methods are being used in LMICs. OBJECTIVE: This study aimed to identify the most common social autopsy instruments, describe overarching findings across populations and geography, and identify gaps in the existing social autopsy literature...
2017: Global Health Action
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