Results 41 to 50 of about 14,547 (258)
Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet +10 more
wiley +1 more source
Strategies for cardiopulmonary exercise testing of pectus excavatum patients
Clinics, 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
Brugada-type ECG associated with pectus excavatum [PDF]
, 2015 Brugada phenocopies (BrP) are new clinical entities characterized by an ECG pattern that is identical to type 1 or type 2 Brugada pattern, despite the absence of the true congenital Brugada syndrome (BrS).
Ghazali, Aiham +3 more
core +1 more source
Patient Benefit from Modified Nuss Correction of Pex Excavatum is Physical as well as Cosmetic [PDF]
, 2016 Efst á síðunni er hægt að nálgast greinina í heild sinni með því að smella á hlekkinn To access publisher's full text version of this article, please click on the hyperlink in Additional Links field or click on the hyperlink at the ...
Bogadottir, Helga +3 more
core +2 more sources
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT KBG syndrome is a rare autosomal dominant neurodevelopmental disorder caused by ANKRD11 haploinsufficiency and is characterized by short stature, distinctive facial features, intellectual disability or developmental delay, congenital anomalies and skeletal anomalies.
Marit van der Leij +5 more
wiley +1 more source
Sudden Cardiac Arrest in a Young Patient with Severe Pectus Excavatum [PDF]
, 2018 We report a case of sudden cardiac arrest in the setting of ventricular fibrillation in a previously healthy 19-year-old male. Chest imaging demonstrated severe pectus excavatum with Pectus Severity Index of 22.7.
Kahwash, Basil M. +2 more
core +1 more source
Pediatric Anesthesia, EarlyView.ABSTRACT Background Procedures involving lung surgery in the pediatric population are relatively uncommon and tend to be centralized in a limited number of institutions. Anesthesia literature is also sparse. Aims To have a clear overview of frequency, underlying pathologies, ICU and hospital stay, anesthetic techniques, one lung ventilation, and ...
Rianne P. Wauters +2 more
wiley +1 more source
Asian Journal of Internal MedicinePleuroparenchymal 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
Children, 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
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 +6 more
core +1 more source