المؤلفون: Erica Birk, Intekhab Hossain, Joel Iff, Edward Tuttle, Gautam Sajeev, Charles Gerrits, James Signorovitch, Courtney Ng, Zhiwen Yao, Nathalie Goemans, André Müller-York

المصدر: Neuropediatrics.

مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, Standard of care, business.industry, Duchenne muscular dystrophy, Medicine, In patient, Pediatric Neurology, business, medicine.disease, Eteplirsen

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::983648adc247df801a22b31ab70b2e1aTest
https://doi.org/10.1055/s-0039-1698172Test

المؤلفون: Nathalie Goemans, Martin Lammens, F Lemmens, Jean-Pierre Fryns, G M van de Kamp, René Dom, Philippe Moerman

المصدر: Neuropediatrics. 28:116-119

مصطلحات موضوعية: Male, Pathology, medicine.medical_specialty, Hydrops Fetalis, Hypokinesia, Neurological disorder, Myopathies, Nemaline, Ultrasonography, Prenatal, Craniofacial Abnormalities, Central nervous system disease, Nemaline myopathy, Pregnancy, Hydrops fetalis, medicine, Humans, Abnormalities, Multiple, Arthrogryposis, Family Health, Fetus, Arthrogryposis multiplex congenita, business.industry, Muscles, Infant, Newborn, General Medicine, medicine.disease, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business

الوصف: Nine patients with the characteristic signs of fetal akinesia sequence (polyhydramnion, multiple joint contractures and lung hypoplasia) are described. In 8 of the 9 patients nemaline myopathy could be demonstrated with histology. The ninth patient presented the same phenotype as his 4 affected siblings in whom the nemaline myopathy could be histologically proven. Seven of the patients belonged to 2 families; the other 2 patients were isolated cases. In one fetal case nemaline myopathy was documented at week 22 of gestation. These observations demonstrate that nemaline myopathy can cause the fetal akinesia sequence, with onset of first symptoms as early as the beginning of the second trimester of pregnancy.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::23d6ab2c044a0ec39785756474de0512Test
https://doi.org/10.1055/s-2007-973683Test

المؤلفون: Guy Wilms, Hugo Devlieger, Nathalie Goemans, L. S. De Vries, Paul Casaer, Maria-Helena Smet

المصدر: Neuropediatrics. 23:153-156

مصطلحات موضوعية: Male, medicine.medical_specialty, Thalamus, Infant, Premature, Diseases, Thalamic Disease, Thalamic Diseases, Lesion, Neuroimaging, medicine, Humans, Dominance, Cerebral, Cerebral Hemorrhage, Full Term, medicine.diagnostic_test, business.industry, Infant, Newborn, Infant, Magnetic resonance imaging, General Medicine, medicine.disease, Echoencephalography, Magnetic Resonance Imaging, Surgery, Perinatal asphyxia, Pediatrics, Perinatology and Child Health, Female, Neurology (clinical), medicine.symptom, business, Follow-Up Studies

الوصف: One full-term and three premature newborns with a unilateral thalamic haemorrhage are reported. The lesion was diagnosed using cranial ultrasonography and confirmed in three using magnetic resonance imaging. Severe perinatal asphyxia occurred in all infants. The neonatal clinical history, subsequent neuro-developmental outcome and neuroimaging findings are discussed. As the prognosis appears to be much better than for infants with bilateral thalamic densities, it is important that this type of lesion is recognised as a separate entity.

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cb4edeca8042a600854418c1de43436eTest
https://doi.org/10.1055/s-2008-1071332Test

المؤلفون: K. M. Patel, J. Florence, G. Buyse, E. Henricson, A. J. Vallejos, J. Mayhew, Robert McCarter, Diana M. Escolar, Nathalie Goemans, M. van den Hauwe, Robert T. Leshner, C. Shao

المصدر: Neuropediatrics. 37

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Duchenne muscular dystrophy, Pediatrics, Perinatology and Child Health, Pilot trial, medicine, Physical therapy, Neurology (clinical), General Medicine, Oxatomide, medicine.disease, business, medicine.drug

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_________::4cea49509ad5a24127da736dd5d83e0aTest
https://doi.org/10.1055/s-2006-943585Test