Results 101 to 110 of about 5,033 (231)

Bloqueio Epidural Torácico em Cirurgia de Nuss: Caso de Sucesso [PDF]

, 2010
Os autores descrevem o caso c1ínico de um adolescente com o diagnóstico de pectus excavatum grave, submetido a cirurgia de Nuss sob controlo toracoscópico. Realizou-se anestesia combinada, com cateter epidural torácico que permitiu um periodo intra e pós-
Bressan, L, Pinto Jorge, G, Rocha, T
core  

Monozygotic twins with Neurofibromatosis type 1, concordant phenotype and synchronous development of MPNST and metastasis [PDF]

, 2010
Background Neurofibromatosis type 1 is a common autosomal dominant disorder with full penetrance and variable expression. The condition predisposes individuals to the development of malignant nervous system tumours, most frequently Malignant ...
German Melean, Alba Marina Hernández, María Carmen Valero, Elisabete Hernández-Imaz, Yolanda Martín, Concepción Hernández-Chico   +5 more
core   +1 more source

Combined immunodeficiency and hypoglycemia associated with mutations in hypoxia upregulated 1 [PDF]

, 2017
Non peer ...
Eriksson-Rosenberg, Ove, Fogarty, Christopher, Haapaniemi, Emma M., Hautala, Timo, Ilander, Mette, Jokitalo, Eija, Katayama, Shintaro, Kere, Juha, Keskitalo, Salla, Krjutskov, Kaarel, Lehto, Markku, Mustjoki, Satu, Seppanen, Mikko, Varjosalo, Markku, Velagapudi, Vidya, Vihinen, Helena   +15 more
core   +1 more source

Perforation of the Sigmoid Colon due to Diverticular Rupture in a Woman With FKBP14‐Related Kyphoscoliotic Ehlers‐Danlos Syndrome: A Case Report

Clinical Case Reports, Volume 13, Issue 5, May 2025.
ABSTRACT This report highlights that severe manifestations of intestinal fragility can occur in kyphoscoliotic EDS, as already described in vascular EDS.
Malika Foy, Valentin Renault, Fabrice Gillas, Philippe De Mazancourt, Robert Carlier, Gilles Manceau, Karelle Bénistan   +6 more
wiley   +1 more source

Neonatal Cholestasis Progressing to a Multisystem Syndrome With Liver Cirrhosis in Two Siblings With FARSA Deficiency: An Evolving Hepatological Phenotype

JIMD Reports, Volume 66, Issue 3, May 2025.
ABSTRACT Biallelic variants in FARSA or FARSB are associated with reduced cytoplasmic phenylalanyl‐tRNA synthetase (FARS1) activity and underlie a multisystem syndrome characterized by growth limitation, developmental delay, brain calcifications, interstitial lung disease (ILD), and liver involvement.
Y. Aelvoet, P. Verloo, A. Vanlander, S. Vande Velde, S. Van Biervliet, P. De Bruyne, L. Hoste, A. Dheedene, L. Pottie, A. Hoorens, M. Mendes, R. De Bruyne   +11 more
wiley   +1 more source

Correction of the Manubriosternal Angle: The Missing Link in the Diagnosis and Management of Anterior Chest Wall “Pectus” Deformities

Plastic and Reconstructive Surgery, Global Open
Summary:. A normal manubriosternal angle (MSA) varies between 157 and 161 degrees, and it is either increased (in pectus carinatum) or decreased (in pectus excavatum).
Reida El Oakley, FRCS, MD
doaj   +1 more source

De Novo Balanced Translocations Disrupting the FBN1 Gene Diagnosed by Genome Sequencing: An Uncommon Cause of Marfan Syndrome Modifying Genetic Counseling

American Journal of Medical Genetics Part A, Volume 197, Issue 4, April 2025.
ABSTRACT Marfan syndrome (MFS) is a well‐characterized rare genetic connective tissue disorder. The features of MFS are primarily skeletal, ocular, and cardiovascular and are mainly caused by single‐nucleotide variants (SNVs) in the FBN1 gene (MIM#134797) located on chromosome 15q21.1.
C. Racine, P. Callier, R. Touraine, A. Vitobello, N. Hanna, P. Arnaud, G. Jondeau, C. Boileau, C. Thauvin‐Robinet, I. Creveaux, V. Gatinois, M. Willems, L. Faivre   +12 more
wiley   +1 more source

Sleep apnea and the impact on cardiovascular risk in patients with Marfan syndrome [PDF]

, 2019
Background: Marfan syndrome (MFS) is an inherited connective tissue disorder characterized by ectopia lentis, aortic root dilation and dissection and specific skeletal features.
Bauters, Fré, De Backer, Julie, De Groote, Katya, De Wilde, Hans, De Wolf, Daniël, Dhondt, Karlien, Hertegonne, Katrien, Jordaens, Luc, Muiño Mosquera, Laura   +8 more
core   +1 more source

Innocent heart murmurs [PDF]

, 2008
Innocent heart murmur is a frequent auscultatory finding in children. The diagnosis is essentially clinical, without need for further investigation. However, excluding heart disease can be a difficult task.
Canha, J, Castela, E, Dinis, A, Martins, P, Ramalheira, G   +4 more
core   +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