Results 81 to 90 of about 518,888 (306)

RNA Sequencing Resolves Cryptic Pathogenic Variants in Mitochondrial Disease

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Mitochondrial diseases are the most common inherited metabolic disorders, characterized by pronounced clinical and genetic heterogeneity that complicates molecular diagnosis. Although DNA‐based sequencing approaches have become standard in genetic testing, up to half of patients remain without a definitive diagnosis.
Zhimei Liu, Xin Duan, Fatemeh Peymani, Jia Wang, Chengjia Bao, Chaolong Xu, Ying Zou, Zixuan Zhang, Yunxi Zhang, Tongyue Li, Martin Pavlov, Junling Wang, Minhan Song, Tianyu Song, Xiaodi Han, Mingxi Sun, Danmin Shen, Ruoyu Duan, Huafang Jiang, Manting Xu, Holger Prokisch, Fang Fang   +21 more
wiley   +1 more source

Insights on Adolescence From a Life Course Perspective

, 2011
In this essay, we argue that viewing adolescence within the full life course will improve our understanding of both adolescence itself and the life course more generally.
Johnson, Monica Kirkpatrick, Elder, Jr, Glen H, Monica Kirkpatrick Johnson, Robert Crosnoe, Crosnoe, Robert, Glen H. Elder   +5 more
core   +1 more source

Electrocardiographic markers of hypertrophy in children: revisiting R/S overlap and the Katz-Wachtel phenomenon

Frontiers in Pediatrics
BackgroundMany children show R/S overlap in ECG chest leads. The Katz-Wachtel phenomenon, described in the 1960s, characterizes high R and S waves ≥50 mm as an ECG feature of biventricular cardiac hypertrophy.
Nikola Owsianka, Lukas Schober, Hannes Sallmon, Daniel Scherr, n Köstenberger, Martin Manninger, Nathalie Öffl, Stefan Kurath-Koller   +7 more
doaj   +1 more source

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

Perceived emotional intelligence as a predictor of depressive symptoms after a one year follow-up during adolescence [PDF]

, 2016
Research to date has identified various risk factors in the emergence of depressive disorders in adolescence. There are very few studies, however, which have analyzed the role of perceived emotional intelligence in depressive symptoms longitudinally ...
Susana Paino, Mendoza, Ramon, Ramon Mendoza, Diego Gomez-Baya, Paino, Susana, Mendoza Berjano, Ramón, Gomez-Baya, Diego   +6 more
core   +1 more source

Sertraline Treatment Can Mimic Niemann‐Pick Type C Biomarker Profile: A Diagnostic Pitfall

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Oxysterols (cholestane‐3β,5α,6β‐triol and 7‐ketocholesterol) and N‐palmitoyl‐O‐phosphocholineserine (PPCS) are sensitive biomarkers for Niemann‐Pick disease type C (NPC) screening. However, false‐positive results occur, with a biomarker profile suggestive of NPC despite the absence of pathogenic variants in genes involved in NPC or ...
Maria Makrygianni, Cecile Pagan, Antony Citterio‐Quentin, Isabelle Rouvet, Giulia Dingeo, Cyril Hanin, Claudine Laurent‐Levinson, Samia Pichard, Bénédicte Héron, Clément Gourguechon, Daniele Mandia, Jerome Guitton, Carole Lacout, Nicolas Schleinitz, Florient Potier, Olivier Flabeau, Elsa Besse‐Pinot, Foudil Lamari, Magali Pettazzoni, Yann Nadjar   +19 more
wiley   +1 more source

Identifying Latent Profiles of Healthy Adults’ Biopsychosocial Pain Concepts

Pain Research and Management
Discussion: Results provide preliminary evidence for distinct profiles of biopsychosocial pain concepts among healthy adults. Further research should replicate these findings in clinical samples to better understand biopsychosocial pain concepts and ...
Catherina Lenhof, Laura Dukek, Linda Wickering, Lena Hitschler, Michael Schneider, Tanja Hechler   +5 more
doaj   +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

Prevalence and Clinical Significance of Symptoms at Ultra High Risk for Psychosis in Children and Adolescents with Obsessive–Compulsive Disorder: Is There an Association with Global, Role, and Social Functioning?

Brain Sciences, 2018
In literature nothing is known about the clinical significance of Ultra High Risk (UHR) symptoms in children and adolescents with diagnosis of obsessive–compulsive disorder (OCD).
Roberto Averna, Maria Pontillo, Francesco Demaria, Marco Armando, Ornella Santonastaso, Maria Laura Pucciarini, Maria Cristina Tata, Francesco Mancini, Stefano Vicari   +8 more
doaj   +1 more source

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