Results 81 to 90 of about 3,013 (187)

Retrospective Study of Clinical and Genetic Profiles of Alpha‐Mannosidosis Patients From the UAE

JIMD Reports, Volume 66, Issue 2, March 2025.
ABSTRACT Alpha‐mannosidosis (AM; OMIM 248500) is a rare autosomal recessive lysosomal storage disorder caused by mutations in MAN2B1, which codes for the lysosomal alpha‐mannosidase enzyme (LAMAN; EC:3.2.1.24). Clinical characteristics include developmental delay, hearing impairment, and recurrent infections.
Ali K. Saad, Tasneem Al‐Hammadi, Shaikha Al‐Ameri, Aisha Al‐Shamsi, Noura Al‐Dhaheri, Amal Al Tenaiji, Fatma Al Jasmi   +6 more
wiley   +1 more source

Bi-valve braces for treatment of pectus carinatum in teenagers: impact on patients quality of life

The Cardiothoracic Surgeon
Background Pectus carinatum may be a major issue for adolescent patients, as chest-wall malformations can have a negative impact on body image and induce self-esteem disorders.
Marion Mauduit, Anaëlle Chermat, Dorian Rojas, Simon Rouzé, Bertrand Delatour, Jean-Philippe Verhoye   +5 more
doaj   +1 more source

The spine lateral bending and the dynamic chest compression principles for concomitant orthotic treatment of scoliosis and pectus deformities Los principios de inclinación lateral de la columna vertebral y compresión dinámica del tórax para tratamiento ortótico concomitante de la escoliosis asociada a deformidades pectus Os principios da inclinação lateral da coluna e compressão dinâmica do tórax para tratamento ortótico concomitante da escoliose associada a deformidades pectus

Coluna/Columna, 2011
OBJECTIVE:To investigate a concomitant orthotic treatment for coexisting scoliosis and pectus deformities. No detailed study on such concomitancy was found in literature.
Sydney Abrão Haje, Davi de Podestá Haje, Gustavo Eduardo Vieira Martins, Mariana Gonçalves Ferrer   +3 more
doaj   +1 more source

Hypertrophic cardiomyopathy combined with renal and adrenal aplasia in a male with Noonan syndrome from RAF1 variant

ESC Heart Failure, Volume 12, Issue 3, Page 2371-2376, June 2025.
Ying Wang, Guizhou Ma, Dianyu Cai, Jierong Yao, Bingying Huang, Chaojian Wu, Xiaoling Liu, Zhixiong Cai   +7 more
wiley   +1 more source

Experiencia con la reconstrucción quirúrgica de las deformidades de la pared torácica

Acta Médica Costarricense, 2010
Objetivo: Analizar las características clínicas, indicación para realizar la intervención y los resultados de la cirugía de pacientes con deformidades de la pared torácica.
Jose A Mainieri-Hidalgo, Mauricio Rivera-Cerdas   +1 more
doaj  

Options for correction of the Pectus carinatum

, 2023
Markushin Viktor Aleksandrovich, Hayaliev Rustem Yakubovich, Rakhimiy Sharif Uktamovich   +2 more
openalex   +1 more source

Abordagem ortopédica das deformidades pectus: 32 anos de estudos Orthopaedic approach to pectus deformities: 32 years of studies

Revista Brasileira de Ortopedia, 2009
Os autores resumem experiência de 32 anos no estudo e na abordagem não cirúrgica das deformidades pectus carinatum e pectus excavatum. Dados de 4.012 pacientes portadores de deformidades pectus foram coletados de 1977 a janeiro de 2009, permitindo ...
Sydney Abrão Haje, Davi de Podestá Haje   +1 more
doaj   +1 more source

Supravalvular aortic stenosis in William′s syndrome

Annals of Pediatric Cardiology, 2011
We report supravalvular aortic stenosis in a 12 year old patient who presented with mental retardation, malformed teeth, broad lower lips, pectus carinatum, clinodactyly, kyphoscoliosis with symptoms of shortness of breath.
Bishav Mohan, Chander Mohan Mittal
doaj   +1 more source

Cardiopulmonary function in adolescent patients with pectus excavatum or carinatum [PDF]

, 2021
Salim Ramadan, J. De Wilde, Anne Tabard-Fougère, Seema Toso, Maurice Beghetti, Jean‐Paul Vallée, Regula Corbelli, Constance Barazzone‐Argiroffo, Pierre Lascombes, Isabelle Ruchonnet-Métrailler   +9 more
openalex   +1 more source

Modification of the Abramson procedure for minimally invasive repair of pectus carinatum: introduction of a pectus carinatum compression system. [PDF]

J Thorac Dis, 2023
Janssen N, Daemen JHT, Franssen AJPM, Jansen YJL, Van Veer HGL, Hulsewé KWE, Vissers YLJ, Abramson H, de Loos ER.   +8 more
europepmc   +1 more source