Results 41 to 50 of about 7,574 (206)

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

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo   +3 more
wiley   +1 more source

Standardized Haller and Asymmetry Index Combined for a More Accurate Assessment of Pectus Excavatum.

open access: yes, 2019
BACKGROUND The measurement of the Haller index (HI) is not standardized, and HI does not consider the asymmetry of pectus excavatum. The aim of this study was to determine the most appropriate level for measuring the HI and to introduce the asymmetry ...
Schmid, Ralph   +6 more
core   +1 more source

Assessment of Growth in Cardio‐Facio‐Cutaneous Syndrome

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cardio‐facio‐cutaneous (CFC) syndrome is a rare, multiple congenital anomaly disorder in which individuals commonly experience faltering growth; however, systematic analysis of growth parameters in this disorder has not been performed. We recruited 69 participants with CFC through CFC International and collected data on assessing height ...
Kari Johnston   +6 more
wiley   +1 more source

Minimally invasive repair of pectus excavatum (MIRPE) in adults: is it a proper choice? [PDF]

open access: yes, 2016
Introduction : The Nuss procedure is suitable for prepubertal and early pubertal patients but can also be used in adult patients. Aim : To determine whether the minimally invasive technique (MIRPE) can also be performed successfully in adults ...
Hasan Volkan Kara   +19 more
core   +1 more source

Cancer Risk in Marfan Syndrome: A Swedish Population‐Based Cohort Study

open access: yesInternational Journal of Cancer, EarlyView.
The cancer risk in Marfan syndrome, an autosomal dominant connective tissue disorder, largely remains to be explored. In this population‐based matched cohort study of 1544 Swedish patients, the overall cancer risk in adults with Marfan syndrome showed no significant increase, except for the risk of endocrine tumours with a nearly threefold increase ...
Ida Nordgren   +8 more
wiley   +1 more source

Idiopathic pleuroparenchymal fibroelastosis in a patient with pectus excavatum: an overlooked association

open access: yesAsian Journal of Internal Medicine
Pleuroparenchymal fibroelastosis (PPFE) is a rare, progressive interstitial lung disease characterised by prominent upper lobe fibrosis and elastotic changes. Its aetiology remains unclear, with most cases classified as idiopathic.
K. Maduranga   +3 more
doaj   +1 more source

The changes of distance between nipples following correction of women pectus excavatum

open access: yesScientific Reports, 2023
The breasts in women pectus excavatum patients frequently appear to be slanting medially along the inclination of the distorted ribs. This study aims to evaluate changes in the distance between the nipples and to find out whether medially slanting ...
Gyeol Yoo   +6 more
doaj   +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

Pectus Excavatum and Pectus Carinatum in dogs [PDF]

open access: yes, 2020
Background: Deformities of the anterior thoracic wall are called pectus: pectus excavatum and pectus carinatum. Pectus excavatum is characterised by dorsal deviation of the caudal region of the sternum while pectus carinatum consists of protrusion of the
Néspoli, Pedro Eduardo Brandini   +7 more
core  

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