Results 71 to 80 of about 453,715 (289)

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source

Electroencephalographic Normalization as a Biomarker of Clinical Recovery in Down Syndrome Regression Disorder

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Down syndrome regression disorder is a syndrome characterized by subacute loss of cognitive, behavioral, and functional abilities in individuals with Down syndrome. Electroencephalography abnormalities are frequently observed during evaluation, but it remains unclear whether these findings represent a dynamic marker of disease ...
Jonathan D. Santoro, Mackenzie Silverman, Maeve C. Lucas, Mariam M. Yousuf, Samuel T. Otey, Stella V. Gray, Brittany Jordan, Madeline D. Kahan, Latanya D. Agurs, Michelle Van Hirtum Das, Deborah Holder, Devin King, Eileen A. Quinn, Ryan Kammeyer, Michael S. Rafii   +14 more
wiley   +1 more source

Association between body composition and menarcheal status: a study among the institutionalized adolescent girls of South 24 Parganas, West Bengal, India

Discover Public Health
Background Menarche is a crucial stage among adolescent girls, and body composition differs significantly between pre-menarcheal and post-menarcheal females, with variations among different ethnic groups in India.
Samiparna Deori, Nairrita Bhattacharjee, Priyanka Kanrar, Baidyanath Pal, Monali Goswami   +4 more
doaj   +1 more source

Adolescent Anxiety: Development, Individual Vulnerability, and Social Relationships [PDF]

, 2015
The general aim of this dissertation was to extend current knowledge on the development of adolescent anxiety in the general population, by (1) examining developmental patterns of anxiety and individual differences in these patterns from childhood ...
Leerstoel Branje, Nelemans, S., Adolescent development: Characteristics and determinants   +2 more
core  

Impact of Age on the Diagnostic Yield of Routine EEG in People With Childhood or Juvenile Absence Epilepsy: A Cross‐Sectional Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background We aimed to identify the proportion of individuals with a confirmed diagnosis of childhood absence epilepsy (CAE) or juvenile absence epilepsy (JAE) who show a negative routine EEG (rEEG), and to determine the main factors associated with this finding.
Francesco Fortunato, Alessia Giugno, Miriam Sturniolo, Enrico Fratto, Pio Zoleo, Francesca Felicia Operto, Ilaria Sammarra, Antonio Gambardella   +7 more
wiley   +1 more source

Juvenile Huntington Disease With Cerebellar‐Predominant Atrophy Identified by Genome Sequencing

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Juvenile Huntington disease accounts for a small fraction of Huntington disease cases and is driven by the largest trinucleotide repeat expansions. We describe a 6‐year‐old boy with progressive global regression, generalized dystonia, and epilepsy, in whom serial imaging showed striking cerebellar‐predominant atrophy with an initially normal ...
Enrique Gonzalez Saez‐Diez, Amy Tam, Siofra Carty, Monica Ferrer Socorro, Kathryn Yang, Darius Ebrahimi‐Fakhari   +5 more
wiley   +1 more source

Perception of shelter unit professionals on sexual and reproductive health of adolescent institutionalized / Percepção de profissionais de unidades de acolhimento sobre saúde sexual e reprodutiva das adolescentes institucionalizadas

Revista de Pesquisa Cuidado é Fundamental Online, 2021
Objetivo: caracterizar o perfil sócio demográfico dos profissionais que atuam em unidade de acolhimento para adolescentes e analisar a percepção sobre saúde sexual/reprodutiva de adolescentes institucionalizadas na perspectiva de profissionais da unidade
Fabio de Oliveira Felix, Lucia Helena Garcia Penna, Carla Oliveira shubert, Vivianne Mendes Araújo Silva, Adriana Lemos, Adriana Lenho de Figueiredo Pereira   +5 more
doaj   +4 more sources

Assessing the predictive validity of the 12 V-RISK-Y items: A prospective naturalistic study in acute institutions for youth

Psychiatry Research Communications
Violence presents a substantial challenge in public institutions providing 24-h care for youth, necessitating methods for identifying violence risk to prevent violent incidents.
Anniken Lucia Willumsen Laake, John Olav Roaldset, Tonje Lossius Husum, Stål Kapstø Bjørkly, Carina Chudiakow Gustavsen, Sara Teresia Grenabo, Gry Nyland Andersen, Øyvind Lockertsen   +7 more
doaj   +1 more source

"I've lived in 15 different foster homes ..." A study of institutionalized adolescent´s life stories.

, 2012
The study aimed to capture the institutionalized adolescent´s life stories and identified their thoughts and experiences of being institutionalized. This to understand and analyze the process that they go through to become adults with respect to three ...
Araque, Nicole, Castro Ramos, Diana
core   +3 more sources

Race and Household Income Are Associated With Disease Outcomes in Pediatric Patients With Antineutrophil Cytoplasmic Antibody–Associated Vasculitis Hospitalized in the United States

Arthritis Care &Research, EarlyView.
Objective Race and household income impact outcomes in patients with rheumatic conditions; however, their role in pediatric antineutrophil cytoplasmic antibody (ANCA)–associated vasculitis (AAV) remains poorly understood. We aimed to evaluate whether race and ethnicity and household income are associated with severe AAV disease and renal outcomes among
Roberto Alejandro Valdovinos, William Daniel Soulsby III, Emily von Scheven   +2 more
wiley   +1 more source