Results 41 to 50 of about 299,585 (267)

Reduced Muscular Carnosine in Proximal Myotonic Myopathy—A Pilot 1H‐MRS Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Myotonic dystrophy type 2 (proximal myotonic myopathy, PROMM) is a progressive multisystem disorder with muscular symptoms (proximal weakness, pain, myotonia) and systemic manifestations such as diabetes mellitus, cataracts, and cardiac arrhythmias.
Alexander Gussew, Maryam Kargaran, Maik Rothe, Andreas Deistung, Dietrich Stoevesandt, Walter A. Wohlgemuth, David Strube, Thomas Kendzierski, Anna Katharina Kölsch, Maurits Gerhard Abraham Heuschen, Markus Otto, Alexander Mensch   +11 more
wiley   +1 more source

A single-arm pilot study: can a parental sleep intervention for sleep-disturbed young children in individual settings improve children’s sleep, crying, eating, and parental distress in mothers and fathers?

BMC Pediatrics, 2022
Background Early sleep problems co-occur with crying, eating problems, and parental distress. This study investigates the impact of a parent-focused intervention to improve child sleep with the following aims: (1) To assess the impact on child sleep ...
Marisa Schnatschmidt, Friederike Lollies, Angelika A. Schlarb   +2 more
doaj   +1 more source

Age‐Related Characteristics of SYT1‐Associated Neurodevelopmental Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objectives We describe the clinical manifestations and developmental abilities of individuals with SYT1‐associated neurodevelopmental disorder (Baker‐Gordon syndrome) from infancy to adulthood. We further describe the neuroradiological and electrophysiological characteristics of the condition at different ages, and explore the associations ...
Sam G. Norwitz, Josefine Eck, Joel S. Winston, Kate Baker   +3 more
wiley   +1 more source

Developmental, Neuroanatomical and Cellular Expression of Genes Causing Dystonia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Dystonia is one of the most common movement disorders, with variants in multiple genes identified as causative. However, an understanding of which developmental stages, brain regions, and cell types are most relevant is crucial for developing relevant disease models and therapeutics.
Darren Cameron, Nicholas E. Clifton, Daniel Cabezas de la Fuente, Peter Holmans, Nicholas J. Bray, Kathryn J. Peall   +5 more
wiley   +1 more source

Adult‐Onset Subacute Sclerosing Panencephalitis Presenting With Subacute Cognitive Deficits

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT We describe the case of a 41‐year‐old man diagnosed with adult‐onset subacute sclerosing panencephalitis (SSPE). The patient presented with subacute progressive cognitive deficits and a neuropsychological profile indicating predominant frontoparietal dysfunction. MRI showed only mild parietal‐predominant cerebral atrophy.
Dennis Yeow, Nicola McKern, Vincent Oxenham, Kate Ahmad, Omar Ahmad   +4 more
wiley   +1 more source

Oxidative stress-driven pulmonary inflammation and fibrosis in a mouse model of human ataxia-telangiectasia

Redox Biology, 2018
Lung failure is responsible for significant morbidity and is a frequent cause of death in ataxia-telangiectasia (A-T). Disturbance in the redox balance of alveolar epithelial cells must be considered as a causal factor for respiratory disease in A-T.
Ruth Duecker, Patrick Baer, Olaf Eickmeier, Maja Strecker, Jennifer Kurz, Alexander Schaible, Dirk Henrich, Stefan Zielen, Ralf Schubert   +8 more
doaj   +1 more source

Diagnostic Utility of the ATG9A Ratio in AP‐4–Associated Hereditary Spastic Paraplegia

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Adaptor protein complex 4–associated hereditary spastic paraplegia (AP‐4‐HSP), a childhood‐onset neurogenetic disorder and frequent mimic of cerebral palsy, is caused by biallelic variants in the adaptor protein complex 4 (AP‐4) subunit genes (AP4B1 [for SPG47], AP4M1 [for SPG50], AP4E1 [for SPG51], and AP4S1 [for SPG52]).
Habibah A. P. Agianda, Hyo‐Min Kim, Nicole Battaglia, Joshua Rong, Amy Tam, Enrique Gonzalez Saez‐Diez, Cornelius F. Boerkoel, Afshin Saffari, Vicente Quiroz, Luca Schierbaum, Zainab Zaman, Katerina Bernardi, Darius Ebrahimi‐Fakhari   +12 more
wiley   +1 more source

Insight of autonomic dysfunction in CLN3 disease: a study on episodes resembling paroxysmal sympathetic hyperactivity (PSH)

Orphanet Journal of Rare Diseases
Background Recurrent non-epileptic episodes resembling paroxysmal sympathetic hyperactivity (PSH) have been observed in adolescents with Juvenile Ceroid Lipofuscinosis (CLN3-disease) and a possible association to an autonomic dysfunction has been ...
C. Baekmann, M. M. Handrup, H. Molgaard, C. Ejerskov, H. K. Jensen, J. R. Ostergaard   +5 more
doaj   +1 more source

Using feminist methodologies to explore female genital mutilation/cutting and child marriage in low- and middle-income contexts

Frontiers in Research Metrics and Analytics
This paper discusses how harmful practices such as child marriage and female genital mutilation/cutting (FGM/C) can be effectively explored through feminist methodologies that center the lived experiences of girls and young women affected by these issues.
Nicola Jones, Kate Pincock, Kate Pincock, Sarah Alheiwidi   +3 more
doaj   +1 more source

Health literacy in childhood and youth: a systematic review of definitions and models

BMC Public Health, 2017
Background Children and young people constitute a core target group for health literacy research and practice: during childhood and youth, fundamental cognitive, physical and emotional development processes take place and health-related behaviours and ...
Janine Bröder, Orkan Okan, Ullrich Bauer, Dirk Bruland, Sandra Schlupp, Torsten M. Bollweg, Luis Saboga-Nunes, Emma Bond, Kristine Sørensen, Eva-Maria Bitzer, Susanne Jordan, Olga Domanska, Christiane Firnges, Graça S. Carvalho, Uwe H. Bittlingmayer, Diane Levin-Zamir, Jürgen Pelikan, Diana Sahrai, Albert Lenz, Patricia Wahl, Malcolm Thomas, Fabian Kessl, Paulo Pinheiro   +22 more
doaj   +1 more source