Results 61 to 70 of about 115,482 (301)

Progressive Parkinsonism in PPP2R5D‐Related Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT PPP2R5D‐related neurodevelopmental disorder (Houge–Janssens syndrome type 1) is a rare autosomal dominant condition characterized by macrocephaly, intellectual disability, and epilepsy. Progressive parkinsonism is an emerging adult phenotype that neurologists should be aware of since timely genetic diagnosis opens the door to disease‐modifying
Katerina Bernardi, Enrique Gonzalez Saez‐Diez, Joshua Rong, Beril Ay, Shabbir Merchant, Kathryn Yang, Darius Ebrahimi‐Fakhari   +6 more
wiley   +1 more source

Preterm nutrition and brain development

BMJ Nutrition, Prevention & Health
Premature birth puts infants at risk for long-term outcomes, particularly neurodevelopmental impairment. The preterm brain is in a period of extreme vulnerability and fundamental development during hospitalisation in the neonatal intensive care unit ...
Chiara Nava, Gianluca Lista, Enrica Lupo
doaj   +1 more source

Re‐Purposing Sapropterin (Kuvan) for ACTA2‐Related Multisystemic Smooth Muscle Dysfunction Syndrome: A Translational Mechanistic and First‐In‐Human Therapeutic Report

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Multisystemic smooth muscle dysfunction syndrome (MSMDS) is an ultra‐rare, ACTA2‐related disorder characterized by severe cerebrovascular disease, aortic aneurysms, and smooth muscle dysfunction. Using molecular dynamics simulations and in silico drug screening, we identified that sapropterin dihydrochloride (Kuvan) is a candidate capable of ...
Moran Hausman‐Kedem, Noa Bielopolski, Vijai Krishnan, Shane Wald‐Altman, Shelly I Shrian, Omer Bar‐Yosef, Livia Kapusta, Claire Shamber, Patricia L. Musolino, Miguel Weil   +9 more
wiley   +1 more source

Vascular access in the neonate

, 2020
Keywords: neonate vascular access ultrasound complications Up to recently, inserting venous or arterial 'lines' in the neonate was essentially based on clinical skill and experience.
MD, Anaesthesiologist Thierry Pirotte, MD, Anaesthesiologist Francis Veyckemans, MD, Paediatric intensivist Thierry Detaille   +2 more
core  

Foreign body ingestion in a neonate

, 2008
Background: Foreign body ingestion is a very common event in the paediatric age group. There are however very few reports of foreign body ingestion in neonates. Aim: To report a case of ingestion of foreign body in a neonate.
da Lilly-Tariah, OB, Ugwu, RO, RO Ugwu, OB Da Lilly-Tariah   +3 more
core   +1 more source

Neurological, Neurodevelopmental and Treatment Outcomes in Patients With Pyruvate Dehydrogenase Complex Deficiency

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The aim of this study was to characterize intellectual and motor function, neurological features including epilepsy, treatment response, and adaptive behavior in patients with pyruvate dehydrogenase complex deficiency (PDCD) in Sweden.
Antri Savvidou, Colin Reilly, Kalliopi Sofou, Sofia Ygberg, Erik A. Eklund, Karin Naess, Niklas Darin   +6 more
wiley   +1 more source

Association of neonatal hypothermia with neonatal hypoglycemia

Frontiers in Endocrinology
IntroductionAbout 15% of neonates suffer from hypoglycemia. Hypothermia is associated with hypoglycemia; however, there are limited empiric data analyzing this association. Accordingly, hypothermia is not listed as a risk factor in many hypoglycemia guidelines.
Hoermann, Henrike, Roeper, Marcia, Friesl, Lisa, Kurz, Calvin, Tautz, Juliane, Dzietko, Mark, Mayatepek, Ertan, Meissner, Thomas, Kummer, Sebastian   +8 more
openaire   +3 more sources

Evaluation of efficiency of 25% oral sucrose on pain decreasing due to H.B vaccination in newborns [PDF]

Backgrounds and Objectives: The ability of neonates to perceive and react to pain has recently been acknowledged. Sweet solutions are one of the recommendations for pain relieve in newborns.
محمدزاده, اشرف, میرزا رحیمی, مهرداد, سنگ سفیدی, زهره سادات, سعیدی, رضا, فاکهی, فاطمه, سعادتی, حکیمه   +5 more
core  

The Comprehensive Live Cell‐Based Cytotoxicity Assay for Monitoring Disease Activity and Guiding Rescue Therapy in Acute Attacks of NMOSD

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a devastating neurological disease that lacks serological biomarkers that can accurately reflect disease activity. We established a live cell‐based assay (LCBA) using serum with endogenous complement to quantify the overall cytotoxicity, offering a novel functional tool for monitoring
Xiaona Xu, Jie Ding, Yupeng Du, Guibao Luo, Jinming Li, Rui Liu, Xiaoyi Xu, Xiao Li, Minshu Li, Wei Jiang, Chunsheng Yang   +10 more
wiley   +1 more source

Critical Neonate

, 2015
Riga O. Critical Neonate [Electronic source] : lecture : [presentation PowerPoint ] / O. Riga, M. Gonchar . – Electronic data (131 slides). – Kharkiv, 2016.
Riga, Olena, Gonchar, Margaryta
core   +1 more source