Results 131 to 140 of about 20,808 (273)

Guided relaxation-based virtual reality versus distraction-based virtual reality or passive control for postoperative pain management in children and adolescents undergoing Nuss repair of pectus excavatum: protocol for a prospective, randomised, controlled trial (FOREVR Peds trial) [PDF]

, 2020
Vanessa A. Olbrecht, Sara E. Williams, Keith T. O’Conor, Chloé Boehmer, Gilbert W Marchant, Susan Glynn, Kristie Geisler, Lili Ding, Gang Yang, Christopher D. King   +9 more
openalex   +1 more source

Functional Characterization of a Novel Intronic Variant in PIEZO2 in a Recessive Form of Distal Arthrogryposis With Impaired Proprioception and Touch (DAIPT)

Molecular Genetics &Genomic Medicine, Volume 13, Issue 8, August 2025.
DAIPT is a rare genetic disease caused by PIEZO2 gene mutations. We identified two novel variants of the gene, a nonsense and an intronic substitution, in a child with suspected DAIPT. Functional studies confirmed the effect of the nonsense variant and demonstrated the pathogenicity of the intronic one by providing a conclusive diagnosis of DAIPT. This
Michela Bellardita, Ferruccio Romano, Ludovica Menta, Joana Soraia Martinheira Da Silva, Marzia Ognibene, Simona Baldassari, Marco Di Duca, Chiara Panicucci, Serena Baratto, Noemi Brolatti, Marina Pedemonte, Chiara Fiorillo, Claudio Bruno, Marcello Scala, Federico Zara, Francesca Faravelli, Francesca Madia, Serena Cappato, Renata Bocciardi, Valeria Capra   +19 more
wiley   +1 more source

Pectus excavatum and heritable disorders of the connective tissue

Pediatric Reports, 2013
Pectus excavatum, the most frequent congenital chest wall deformity, may be rarely observed as a sole deformity or as a sign of an underlying connective tissue disorder.
Francesca Tocchioni, Marco Ghionzoli, Antonio Messineo, Paolo Romagnoli   +3 more
doaj   +1 more source

Assessment of copy number variations in 120 patients with Poland syndrome [PDF]

, 2016
Poland Syndrome (PS) is a rare congenital disorder presenting with agenesis/hypoplasia of the pectoralis major muscle variably associated with thoracic and/or upper limb anomalies.
Aldamaria Puliti, Anwar Baban, Carlotta Maria Vaccari, Elisa Tassano, Filippo Senes, Ilaria Musante, Margherita Lerone, Maria Francesca Bedeschi, Maria Grazia Calevo, Maria Teresa Divizia, Maria Victoria Romanini, Massimo Acquaviva, Maura Valle, Michele Torre, Nunzio Catena, Roberto Ravazzolo, Simone Bossi, Stefania Gimelli   +17 more
core   +2 more sources

Pectus excavatum with brugada phenocopy electrocardiogram

, 2021
Ng Kian Seng, Sarvesh Seger
openalex   +1 more source

The effect of surgical repair of the chest on postural stability among patients with pectus excavatum

Scientific Reports
Pectus excavatum is the most encountered of chest wall deformities. It may produce respiratory and cardiovascular symptoms, hence surgical repair of this defect is performed. The procedure involving the insertion of metal bars under the sternum (the Nuss
Maria Jarosz, Krystian Pawlak, Wojciech Jarosz, Marzena Wiernicka, Aleksander Barinow-Wojewódzki, Rafał Stemplewski   +5 more
doaj   +1 more source

Handheld 3D scanning system for in-vivo imaging of skin cancer [PDF]

, 2014
Postprint (published ...
Ares Rodríguez, Miguel, Delpueyo Español, Xana, Herrera Ramírez, Jorge Alexis, Royo Royo, Santiago, Sanàbria Ortega, Ferran, Vilaseca Ricart, Meritxell   +5 more
core   +1 more source

Combined Bentall and modified Ravitch procedures in a patient with Marfan syndrome

Journal of Anaesthesiology Clinical Pharmacology, 2013
Marfan syndrome is an inherited, connective-tissue disorder transmitted as an autosomal dominant trait. Cardinal features of the disorder include tall stature, ectopia lentis, mitral valve prolapse, aortic root dilatation, and aortic dissection.
Bhuvnesh Kansara, Ajmer Singh, Samir Girotra, K S Iyer   +3 more
doaj   +1 more source

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type [PDF]

, 2017
Joint hypermobility syndrome (JHS) and Ehlers-Danlos syndrome, hypermobility type (EDS-HT) are two overlapping heritable disorders (JHS/EDS-HT) recognized by separated sets of diagnostic criteria and still lack a confirmatory test.
Beighton, Beighton, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Castori, Clarkson, De Paepe, De Wandele, Gharbiya, Grahame, Grahame, Greenacre, Hakim, Kirk, Lebart, Loeys, Mayer, Palmer, Remvig, Remvig, Ritelli, Rombaut, Rombaut, Tinkle, Voermans, Voermans, Voermans, Zarate   +34 more
core   +1 more source

Helical mutations in type I collagen that affect the processing of the amino-propeptide result in an Osteogenesis Imperfecta/Ehlers-Danlos Syndrome overlap syndrome [PDF]

, 2013
Background: Whereas mutations affecting the helical domain of type I procollagen classically cause Osteogenesis Imperfecta (OI), helical mutations near the amino (N)-proteinase cleavage site have been suggested to result in a mixed OI/Ehlers-Danlos ...
De Paepe, Anne, Goemans, Nathalie, Gyftodimou, Yolanda, Holmberg, Eva, Lopez-Gonzalez, Vanesa, Malfait, Fransiska, Mortier, Geert, Nampoothiri, Sheela, Petersen, Michael Bjorn, Symoens, Sofie   +9 more
core   +2 more sources