Results 51 to 60 of about 109,150 (263)

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

Retinal alterations in a pre-clinical model of an autism spectrum disorder

Molecular Autism, 2019
Background Autism spectrum disorders (ASD) affect around 1.5% of people worldwide. Symptoms start around age 2, when children fail to maintain eye contact and to develop speech and other forms of communication. Disturbances in glutamatergic and GABAergic
Elisa Maria Guimarães-Souza, Christina Joselevitch, Luiz Roberto G. Britto, Silvana Chiavegatto   +3 more
doaj   +1 more source

DIABETES MELLITUS FROM THE POINT OF VIEW OF ADOLESCENTS

Cogitare Enfermagem, 2013
This qualitative research, undertaken in 2011 with eight adolescents with Type 1 diabetes mellitus aimed to investigate limitations which these experience, faced with the illness in the family, social and eating ambits. The Dynamic of Creativity and Sensitivity called for by the Creative and Sensitive Method was used for data collection.
Larissa Evangelista Ferreira, Elisangela Argenta Zanatta, Maria Luiza Bevilaqua Brumm, Simone Cristine dos Santos Nothaft, Maria da Graça Motta   +4 more
openaire   +1 more source

Swimming as a recreation ‒ adolescent swimmers' point of view

Hrvatski športskomedicinski vjesnik, 2021
Većina istraživanja povezana s motivacijom mladih sportaša odnosi se na aktivne sportaše, natjecatelje, koji od malih nogu pristupaju sportu i vrlo rano počinju s natjecanjima. U literaturi ima puno navoda o prednostima i nedostacima redovitog bavljenja sportom koje dovodi do niza pozitivnih i negativnih psihosocijalnih učinaka kod djece i adolescenata
openaire   +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

The dynamic ambivalence of adolescence in Emmanuel Dongala’s Johnny chien méchant (2002) and Tierno Monénembo’s L’Aîné des orphelins (2000)

Francosphères
In Johnny chien méchant (2002) by Emmanuel Dongala and L’Aîné des orphelins (2000) by Tierno Monénembo, the figure of the adolescent narrator-protagonist serves to depict personal and social crisis in (post-)conflict environments in Central Africa.
Kate Mackenzie
doaj   +1 more source

[Pregnancy in adolescent women: the point of view of the relatives].

Revista brasileira de enfermagem, 2003
This is descriptive study, which aims at understanding the family members' point of view, regarding the pregnancy of an adolescent. The research was carried out in Mossoró-RN, in Conjunto Liberdade II. Fourteen families participated in the study and the sample of family members was constituted of nineteen people: thirteen mothers, a grandmother, two ...
Fátima Raquel Rosado, Morais, Telma Ribeiro, Garcia   +1 more
openaire   +1 more source

Communication and public health from adolescents’ point of view

Comunicar, 2006
This paper presents a study about the young, the use they do of mass media and the relationship they keep with health. Among other contributions, it is to be highlighted that the voice of young people can be heard in this article which, with the use of methodological triangulation, offers a rich information about how adolescents contact the media and ...
José-María Coronado-Morón, José-María López-García   +1 more
openaire   +2 more sources

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

Treatment of adolescent girls with abnormal uterine bleeding taking into account psychoemotional and vegetative status

Journal of Education, Health and Sport, 2019
The study, which was conducted at the clinical bases of the Department of Obstetrics, Gynecology and Pediatric Gynecology of the Kharkov National Medical University for 2 years, included 98 adolescent girls with abnormal uterine bleeding during puberty ...
I. A. Tuchkina, M. Yu. Tuchkina, A. A. Novikova   +2 more
doaj   +3 more sources