Results 51 to 60 of about 15,587 (254)

The Association of a Single Nucleotide Variant in COL5A1 to Early Onset Keratoconus and Pectus Excavatum—Convergence of Extracellular Matrix Pathologies

open access: yesMedicina
Keratoconus is a bilateral ocular condition characterized by irregularities and the thinning of the cornea. Decreased central corneal thickness is a hallmark of the condition, and numerous genes have played a role in altering corneal thickness and the ...
Griffin Bryant   +2 more
semanticscholar   +1 more source

The automatic quantification of morphological features of pectus excavatum based on three-dimensional images.

open access: yesSeminars in Thoracic and Cardiovascular Surgery, 2021
OBJECTIVE Visual examination and severity quantification are essential for clinical decision making in patients with pectus excavatum. Yet, visual assessment is prone to inter- and intra-observer variability and current quantitative methods are ...
N. Coorens   +6 more
semanticscholar   +1 more source

Mechanical factors play an important role in pectus excavatum with thoracic scoliosis

open access: yesJournal of Cardiothoracic Surgery, 2012
Background This study investigated the incidence, imaging characteristics and mechanical factors in scoliotic patients with pectus excavatum. Methods A total of 142 scoliostic patients with pectus excavatum were evaluated prior to operation.
Wang Yuncang   +9 more
doaj   +1 more source

Strategies for cardiopulmonary exercise testing of pectus excavatum patients

open access: yesClinics, 2008
The purpose of this paper is to provide strategies for cardiopulmonary exercise testing of pectus excavatum patients. Currently, there are no standardized methods for assessing cardiovascular and pulmonary responses in this population; therefore, making ...
Moh H. Malek, Jared W. Coburn
doaj   +1 more source

Advancements in preoperative imaging of pectus excavatum: a comprehensive review

open access: yesJournal of Thoracic Disease
Pectus excavatum, the most common pectus deformity, varies in severity and has been associated with cardiopulmonary impairment and psychological distress. Since its initial documentation, a multitude of imaging techniques for preoperative evaluation (i.e.
N. Coorens   +6 more
semanticscholar   +1 more source

Prevalence of comorbidities in a surgical pectus excavatum population

open access: yesJournal of Thoracic Disease, 2021
Background Pectus excavatum is the most common chest wall deformity and is associated to various connective tissue, cardiopulmonary, and skeletal abnormalities.
A. Media   +4 more
semanticscholar   +1 more source

Noonan Syndrome Spectrum Disorders Predispose to Systemic Lupus Erythematosus: Case Report and Critical Review of the Literature

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are clinically overlapping neurodevelopmental syndromes resulting from germline mutations in genes involved in the rat sarcoma/mitogen‐activated protein kinases (RAS/MAPK) pathway. Historically, RASopathies have been described by clinical phenotypes, such as Noonan syndrome and Neurofibromatosis type I.
Anastasia‐Vasiliki Madenidou   +6 more
wiley   +1 more source

Comparison of the Standard vs. Thoracoscopic Extrapleural Modification of the Nuss Procedure—Two Centers’ Experiences

open access: yesChildren, 2022
Pectus excavatum is the most common congenital anterior chest wall deformity, with an incidence of 1:400 to 1:1000. Surgical strategy has evolved with the revolutionary idea of Donald Nuss, who was a pioneer in the operative correction of this deformity ...
Miloš Pajić   +8 more
doaj   +1 more source

KDM2B‐Related Neurodevelopmental Disorder A Case‐Series Supporting the CxxC Domain Phenotype With Emphasis on Ocular and Dermatologic Features

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes   +3 more
wiley   +1 more source

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