Results 111 to 120 of about 11,674 (220)

Chylothorax and Chylous-Like Diseases in Children: Clinical Management

Frontiers in Pediatrics, 2019
Background: Chylothorax and chylous-like diseases are rare conditions and difficult to treat. But they may represent potentially life-threatening disorders and important causes of morbidity and prolonged hospitalization, especially in critically ill ...
Michael Hermon, Elias Tenner, Gudrun Burda, Wolfgang Strohmaier, Gerald Schlager, Johann Golej   +5 more
doaj   +1 more source

Atrophy, oxidative switching and ultrastructural defects in skeletal muscle of the ataxia telangiectasia mouse model [PDF]

, 2019
Ataxia telangiectasia is a rare, multi system disease caused by ATM kinase deficiency. Atm-knockout mice recapitulate premature aging, immunodeficiency, cancer predisposition, growth retardation and motor defects, but not cerebellar neurodegeneration and
Aguanno, Salvatore, Bolasco, Giulia, De Angelis, Luciana, De Gennaro, Vincenzo, Marazziti, Daniela, Naro, Fabio, Pellegrini, Manuela, Sala, Gina La, Tassinari, Valentina   +8 more
core   +1 more source

International Guillain-Barré Syndrome Outcome Study (IGOS): protocol of a prospective observational cohort study on clinical and biological predictors of disease course and outcome in Guillain-Barré syndrome [PDF]

, 2017
Guillain-Barré syndrome (GBS) is an acute polyradiculoneuropathy with a highly variable clinical presentation, course, and outcome. The factors that determine the clinical variation of GBS are poorly understood which complicates the care and treatment of
Bateman, K., Chavada, Govindsinh, Cornblath, D. R., Cornblath, David R., Dardiotis, E., Faber, C. G., Feasby, T. E., Gorson, K. C., Gorson, Kenneth C., Harbo, T., Harbo, Thomas, Hartung, H. P., Hartung, H. P., Hartung, Hans Peter, Hughes, R. A.C., Hughes, Richard A.C., Illa, I., Islam, B., Islam, Z., Jacobs, B. C., Jacobs, B. C., Jacobs, B. C., Jacobs, Bart C., Kusunoki, S., Kusunoki, S., Kusunoki, Susumu, Lehmann, H. C., Mohammad, Q. D., Nobile-Orazio, E., Péréon, Y., Reddel, S. W., Reisin, R. C., Roodbol, J., Shahrizaila, N., van den Berg, B., van den Berg, B., van den Berg, Bianca, van den Bergh, P., van der Kooi, A. J., van Dijk, G. W., van Doorn, P. A., van Doorn, Pieter A., van Woerkom, M., Verboon, C., Verboon, C., Verboon, Christine, Visser, L. H., Wang, Y. Z., Willison, H. J., Willison, Hugh J.   +49 more
core   +3 more sources

Clinical expression of facioscapulohumeral muscular dystrophy in carriers of 1-3 D4Z4 reduced alleles: Experience of the FSHD Italian National Registry [PDF]

, 2016
OBJECTIVES: Facioscapulohumeral muscular dystrophy type 1 (FSHD1) has been genetically linked to reduced numbers ( 64 8) of D4Z4 repeats at 4q35. Particularly severe FSHD cases, characterised by an infantile onset and presence of additional extra ...
Angelini, Corrado, Antonini, Giovanni, Berardinelli, Angela, Brisca, Giacomo, Bruno, Claudio, Bucci, Elisabetta, Cao, Michelangelo, D'Amico, Maria Chiara, D'Angelo, Maria Grazia, Di Muzio, Antonio, Fiorillo, Chiara, Govi, Monica, Maggi, Lorenzo, Mele, Fabiano, Moggio, Maurizio, Mongini, Tiziana, Morandi, Lucia, Nikolic, Ana, Pegoraro, Elena, Ravaglia, Sabrina, Ricci, Giulia, Rodolico, Carmelo, Rossi, Marta, Ruggiero, Lucia, Santoro, Lucio, Sera, Francesco, Siciliano, Gabriele, Tomelleri, Giuliano, Tupler, Rossella, Vercelli, Liliana, Villa, Luisa   +30 more
core   +4 more sources

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

Orphanet Journal of Rare Diseases, 2017
Background Urea cycle disorders (UCDs) are a group of rare inherited metabolic disorders. Affected individuals often present with hyperammonemic encephalopathy (HE) and have an increased risk of severe neurologic disease and early death.
Susanne Nettesheim, Stefan Kölker, Daniela Karall, Johannes Häberle, Roland Posset, Georg F. Hoffmann, Beate Heinrich, Florian Gleich, Sven F. Garbade, On behalf of Arbeitsgemeinschaft für Pädiatrische Stoffwechselstörungen (APS); European registry and network for Intoxication type Metabolic Diseases (E-IMD); Erhebungseinheit für Seltene Pädiatrische Erkrankungen in Deutschland (ESPED); Austrian Metabolic Group; Swiss Paediatric Surveillance Unit (SPSU)   +9 more
doaj   +1 more source

High-throughput and Efficient Assay for Central Nervous System Infection with Targeted Nanopore Sequencing Technology

Infection and Drug Resistance
Ye Shi,1,2 Zhongdong Lin,3 Zhanguo Chen,4 Chuyuan Ye,3 Jian Yu,4 Jianan Xi,3 Yaya Geng,1,2 Man Zou,1 Haitao Ren,1,2 Lanni Wang,1,2 Bing Wang,1,2 Feng Xu,1,2 Xiaoqun Zheng,1,2 Guangxin Xiang1,2 1School of Laboratory Medicine and Life Sciences, Wenzhou ...
Shi Y, Lin Z, Chen Z, Ye C, Yu J, Xi J, Geng Y, Zou M, Ren H, Wang L, Wang B, Xu F, Zheng X, Xiang G   +13 more
doaj  

Hallazgos neurorradiológicos de la Acidosis Glutárica tipo I [PDF]

, 2007
Glutaric aciduria type I is a rare disorder of organic acid metabolism caused by deficiency of glutaryl-CoA dehydrogenase, a mitochondrial enzyme. Improper degeneration of amino acids: tryptophan, lysine, and hydroxylysine, results in
Garcia-de-Eulate, R. (Reyes), Larrache, J. (Javier), Luis, E. (Esther) de, Narbona, J. (Juan), Zubieta, J.L. (José L.)   +4 more
core  

Building Resilient Pediatric Care: Lessons from Service Disruptions for Children with Special Healthcare Needs During the COVID-19 Pandemic in Germany

Children
Introduction: This study aimed (1) to describe services involved in healthcare provision for children with special healthcare needs (CSHCN) and explore changes in the frequency of service provision reported by parents during the first wave of the COVID ...
Lia von Spreckelsen, Anneke Haddad, Shrabon Insan, Henriette Högl, Annette Mund, Thorsten Langer, Anne Geweniger   +6 more
doaj   +1 more source

A New Allelic Variant in the Gene in a Patient with Incomplete HARP Syndrome [PDF]

Journal of Movement Disorders, 2020
Myriam Ley Martos, María Jesús Salado Reyes, Rosario Marín Iglesias, Carmen Gutiérrez Moro, Manuel Lubián Gutiérrez, Lorena Estepa Pedregosa   +5 more
doaj   +1 more source

Sotos syndrome and the added value of genetic workup in epilepsy surgery

Epilepsia Open, 2021
Linda Bättig, Richard Ewald Rosch, Katharina Steindl, Sarah Elisabeth Bürki, Georgia Ramantani   +4 more
doaj   +1 more source