Results 121 to 130 of about 2,337,429 (379)

Addressing the Diagnostic Odyssey for Adults With Neurodevelopmental Disabilities: Case Study of an Individual With Mandibulofacial Dysostosis With Microcephaly

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Whole exome sequencing (WES) has been widely used in the pediatric setting to increase diagnostic yield, provide treatment options, and to estimate reoccurrence risks. However, there is limited knowledge regarding the utility of this technology in adults with neurodevelopmental disabilities.
Ruhi Shah   +6 more
wiley   +1 more source

Breast Auto-Augmentation: A Versatile Method of Breast Rehabilitation—A Retrospective Series of 107 Procedures

open access: yesArchives of Plastic Surgery, 2015
Background Breast auto-augmentation (BAA) using an inferior pedicle dermoglandular flap aims to redistribute the breast tissue in order to increase the fullness in the upper pole and enhance the central projection of the breast at the time of mastopexy ...
Laurence Kirwan   +2 more
doaj   +1 more source

Simultaneous reconstruction of the oral commissure, lip and buccal mucosa with microvascular transfer of combined first-second toe web and dorsalis pedis flap [PDF]

open access: yes, 2016
The reconstruction of oral commissure, lip and mucosa defects following tumour resection is a challenging task to the reconstructive surgeon owing to the increasing aesthetic and functional demands.
Chen, Hung-Chi   +3 more
core   +1 more source

Ocular Findings as the Most Striking Manifestation of a SMAD3 Variant

open access: yesAmerican Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Loeys‐Dietz syndrome (LDS) is a heritable connective tissue disorder with variable expressivity. It is a multisystemic condition mainly characterized by a propensity for arterial aneurysms and dissections, skeletal manifestations, hypertelorism, bifid uvula, craniosynostosis, and cutaneous features.
Noémie Villeneuve‐Cloutier   +7 more
wiley   +1 more source

Management of Cardiovascular Health Issues in Turner Syndrome: Expert Insights and Expanded Recommendations From the 2024 Guideline Development Team

open access: yesAmerican Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Turner syndrome (TS) is frequently complicated by congenital heart disease (CHD). While left‐sided lesions such as bicuspid aortic valve (BAV) and coarctation of the aorta are the most common structural heart lesions in TS, other anomalies, such as aortic arch malformations, hypoplastic left heart syndrome (HLHS), persistent left superior vena
Katya de Groote   +9 more
wiley   +1 more source

Repair of myelomeningocele using autologous amnion graft and local flaps. A report of two cases

open access: yesJPRAS Open, 2018
Summary: We describe two cases where autologous amnion grafts were used to cover the neurosurgical repair of myelomeningocele (MMC) and the reconstructive flaps used for the skin defects.MMC is a severe fetal defect that evolves during embryonic ...
Liv Schoellhammer   +5 more
doaj  

Single institution implementation of permanent 131Cs interstitial brachytherapy for previously irradiated patients with resectable recurrent head and neck carcinoma [PDF]

open access: yes, 2019
Purpose: Permanent interstitial brachytherapy is an appealing treatment modality for patients with locoregional recurrent, resectable head and neck carcinoma (HNC), having previously received radiation.
Bar-Ad, Voichita   +10 more
core   +1 more source

Expert Strategies: Skull Base Reconstruction—Global Perspectives, Insights, and Algorithms through a Mixed Methods Approach

open access: yesInternational Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective There is limited consensus on endoscopic skull base surgery (ESBS) reconstruction principles. This study aims to generate comprehensive themes regarding ESBS reconstruction by pooling the experiences of ESBS experts, with comparison to a literature review of current published evidence.
Edward C. Kuan   +77 more
wiley   +1 more source

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