Results 81 to 90 of about 338,913 (237)
Analysis of neonatal mortality data for year 2016 [PDF]
, 2018 This report presents an analysis of neonatal mortality in infants born in 2016 at a gestational age (GA) less that 32 weeks, and who were admitted to neonatal units that form the UK Neonatal Collaborative in England, Wales and Scotland (part).
Longford, Nicholas, Modi, Neena
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The Application of Clinical Genetics, 2012 Isabel Ochando,1 Antonio Urbano,1 Juana Rubio,2 Joaquín Rueda1,31Unidad de Genética, Hospital Clínica Vistahermosa, Alicante, 2Hospital Virgen de la Vega, Murcia, 3Departamento de Histología y Anatomí
Rubio J, Urbano A, Ochando I, Rueda J
doaj
Severe skeletal fragility in SCN8A‐related developmental and epileptic encephalopathy
Epilepsia, EarlyView.Abstract In this child with a phenotype compatible with the SCN8A gain‐of‐function spectrum, more than 20 bone fractures were documented. Together with previously reported cases, these observations raise the possibility that skeletal fragility may represent an underrecognized feature of the clinical spectrum associated with pathogenic SCN8A variants ...
Adélia Maria de Miranda Henriques‐Souza +1 more
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Transient Myopia and Hypotonia after Blunt Eye Trauma
, 2011 A patient whot received blunt trauma to the right eye one week ago referred to our clinic with complaints of low vision. Traumatic mMyopia and hypotonia were detected in the same eye after full ophthalmologic examination.
Yonca Ayd›n Akova +4 more
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ACTA1-related congenital myopathy in a neonate: a case report and literature review
Frontiers in PediatricsBackgroundACTA1-related congenital myopathies are rare neuromuscular disorders with significant genotypic heterogeneity, often causing severe neonatal multisystem involvement. This study presents a severe neonatal case with a pathogenic ACTA1 variant and
Lingxia Zhao, Feng Deng, Baohuan Cai
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Inherited metabolic epilepsies–established diseases, new approaches
Epilepsia Open, EarlyView.Abstract Inherited metabolic epilepsies (IMEs) represent the inherited metabolic disorders (IMDs) in which epilepsy is a prevailing component, often determining other neurodevelopmental outcomes associated with the disorder. The different metabolic pathways affected by individual IMEs are the basis of their rarity and heterogeneity.
Itay Tokatly Latzer, Phillip L. Pearl
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Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency
JIMD ReportsGABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene.
Deima Alammary +8 more
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Neonatal seizures: Advances in diagnosis and management
Epilepsia Open, EarlyView.Abstract The International League Against Epilepsy (ILAE) created the ILAE Neonatal Task Force that classified neonatal seizures, defined neonatal epilepsy syndromes, and specified treatment guidelines. These frameworks, in addition to improved access to genetic testing and other recent advances, have revolutionized the diagnosis and management of ...
Elissa G. Yozawitz +2 more
wiley +1 more source
Global distribution of the most prevalent deletions causing hypotonia-cystinuria syndrome
, 2007 Hypotonia-cystinuria syndrome (HCS) is a recessive disorder caused by microdeletions of SLC3A1 and PREPL on chromosome 2p21. Patients present with generalized hypotonia at birth, failure to thrive, growth retardation and cystinuria type I.
Jaeken J +11 more
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Congenital muscular hypotonia [PDF]
, 2018 IMSP Institutul Mamei şi Copilului, Departamentul Pediatrie, USMF „ Nicolae Testemiţanu”Congenital muscular hypotonia is a state of low muscle tone, often involving reduced muscle strength.
Borisova, Ana +2 more
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