Results 101 to 110 of about 11,217 (226)

Minimally invasive repair of the severe pectus excavatum in an infant

Journal of Pediatric Surgery Case Reports, 2019
Pectus excavatum is the most common congenital chest wall abnormality. Nuss et al., in 1998 described minimally invasive repair of pectus excavatum and this procedure is now the procedure of choice in many institutions for the surgical repair of pectus ...
Muharrem Özkaya, Mehmet Bilgin
doaj   +1 more source

Connective tissue anomalies in patients with spontaneous cervical artery dissection. [PDF]

, 2014
OBJECTIVE: To investigate the prevalence of connective tissue abnormalities in patients with spontaneous cervical artery dissections (sCeAD). METHODS: We systematically assessed clinically detectable signs of connective tissue aberration in a series of ...
A. Giossi, A. Morotti, A. Padovani, A. Pezzini, E. Del Zotto, G. Meneghetti, G. Tomelleri, I. Volonghi, L. Poli, M. Carletti, M. Chinaglia, M. Colombi, M. Gamba, M. Morra, M. Ritelli, N. Checcarelli, N. Chiarelli, P. Bovi, P. Costa, V. De Giuli   +19 more
core   +1 more source

A new methodology for assessment of pectus excavatum correction after bar removal in Nuss procedure: preliminary study [PDF]

, 2017
Purpose: The objective is to present a new methodology to assess quantitatively the impact of bar removal on the anterior chest wall, among patients with pectus excavatum who have undergone the Nuss procedure, and present a preliminary study using this ...
Correia-Pinto, Jorge, Direito-Santos, Bruno, Fonseca, Jaime C., Fonseca, João Luís Gomes, Henriques-Coelho, Tiago, Pinho, António C.M., Vilaça, João Luis Araújo Martins   +6 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

A modified method of correction for pectus excavatum [PDF]

, 1980
no ...
Bondioli, A, Fontana, G, LODI, Renzo, Mazzera, E, MORANDI, Uliano, Romano, A, TAZZIOLI, Giovanni   +6 more
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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

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  

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

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

Repair of pectus deformities : Experience and outcome in 317 cases

Annals of Saudi Medicine, 2006
Background: The most common congenital chest wall deformities are pectus excavatum and pectus carinatum. Various techniques have been described for correction of pectus deformities.
Genc Onur, Gurkok Sedat, Gozubuyuk Alper, Dakak Mehmet, Caylak Hasan, Yucel Orhan   +5 more
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