Results 81 to 90 of about 50,678 (282)

Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations

Cellular Physiology and Biochemistry, 2015
Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities.
Qianqian Guo, Jia Shen, Yang Liu, Tian Pu, Kun Sun, Sun Chen   +5 more
doaj   +1 more source

Implementation and Performance of First‐Trimester Referral Ultrasound Scan Following the Introduction of National Guidelines

Journal of Clinical Ultrasound, EarlyView.
The expert assessment of fetal anatomy before 14 weeks is feasible when adopting a standardized protocol and allows an early diagnosis in most cases at risk for fetal anomaly following first trimester screening ultrasound. ABSTRACT Background To report the implementation across Fetal Medicine units and the agreement between first and second trimester ...
Grazia Volpe, Laura Sarno, Elena Mantovani, Daniele Di Mascio, Valentina D'Ambrosio, Tiziana Fanelli, Ilaria Fantasia, Gian Piero Minnella, Paola Quaresima, Enrico Corno, Andrea Dall'Asta, on behalf of the SIEOGiovani Committee of the Italian Society of Ultrasound in Obstetrics and Gynecology (SIEOG)   +11 more
wiley   +1 more source

A novel de novo TBX5 mutation in a patient with Holt-Oram syndrome

The Application of Clinical Genetics, 2018
Lady J Ríos-Serna,1 Lorena Díaz-Ordoñez,1 Estephania Candelo,1,2 Harry Pachajoa1,3 1Center for Research on Congenital Anomalies and Rare Diseases (CIACER), Department of Basic Medical Sciences, Universidad Icesi, Cali, Valle del ...
Ríos-Serna LJ, Díaz-Ordoñez L, Candelo E, Pachajoa H   +3 more
doaj  

Malleostapedotomy in Patients With Stapes Fixation: A Systematic Review

The Laryngoscope, EarlyView.
This systematic review analyses the current evidence on malleostapedotomy as a primary or revision procedure in patients with stapes fixation. Twenty‐five studies comprising 632 operated ears were included. Malleostapedotomy proved to be a safe and effective alternative to incus‐anchoring stapedoplasty, with favorable hearing outcomes and a low ...
Matteo Alicandri‐Ciufelli, Edoardo D'Alessandro, Daniela Lucidi, Riccardo Nocini, Hui Davide Qiu   +4 more
wiley   +1 more source

Inflammatory Markers Stratify Surgical Outcomes in Pediatric Airway Reconstruction

The Laryngoscope, EarlyView.
ABSTRACT Objectives Red blood cell distribution width (RDW) predicts surgical success in adult patients undergoing open airway reconstruction for laryngotracheal stenosis, but similar biomarkers in pediatrics remain unidentified. This study identifies predictors of outcomes in pediatric patients undergoing triple endoscopy or surgical airway ...
Nomongo Dorjsuren, Hrithik Praveen, Kalpnaben Patel, Shilin Zhao, Alexander Gelbard, Christopher Wootten   +5 more
wiley   +1 more source

Polydactyly and syndactyly linked to GLI3 and TBX5 mutations: A pediatric case report

Global Medical Genetics
Background: Polydactyly and syndactyly, which are commonly encountered congenital limb deformities, rarely occur together and are linked with significant genetic mutations.
R. Leonardi, G. Pellino, E. Floridia, M. Lo Bianco, M. Ruggieri, SY. Cho, V. Pavone, P. Pavone, A. Polizzi   +8 more
doaj   +1 more source

Congenital Knee Dislocation: A Case Report. [PDF]

Clin Case Rep
ABSTRACT Congenital knee dislocation (CKD) is a rare anomaly characterized by anterior and lateral displacement of the tibia in relation to the femur. Its incidence is 0.017 per 1000 live births, predominating in the female sex. Its etiology is unknown, but intrinsic (genetic) and extrinsic (mechanical) predisposing factors have been identified ...
Castro-Lara M, Palencia Sagastume GE, Gaitán-Zambrano K, Baca Garcia CH, Palencia Sagastume JA, Maradiaga J.   +5 more
europepmc   +2 more sources

Respiratory Motion‐Corrected Model‐Based 3D Water‐Fat MRA of the Thorax at 0.55 T

Magnetic Resonance in Medicine, EarlyView.
ABSTRACT Purpose The goal of this study was to develop a 5‐min 3D MRA acquisition at 0.55 T with predictable scan time, 100% data efficiency, and robust water‐fat separation. Methods For full data efficiency, the proposed method combined self‐gating with retrospective motion correction while ensuring a predictable 5‐min scan time.
Robert Stoll, Christoph Kolbitsch, Michaela Schmidt, Marcel Dominik Nickel, Tobias Schaeffter, Daniel Giese   +5 more
wiley   +1 more source

Fiscal grievance politics: wealth taxation and master‐race democracy in post‐coup Bolivia Politique des griefs fiscaux : impôt sur la fortune et démocratie de la race maîtresse en Bolivie post‐coup d’État

Journal of the Royal Anthropological Institute, EarlyView.
This article analyses a new wealth tax (the IGF) in Bolivia against the backdrop of the 2019 ousting of former president Evo Morales. In doing so, it engages calls for ‘a return to politics’ in anthropology by proposing the notion of a ‘fiscal grievance politics’ as animating elite opposition to the tax in lowland Santa Cruz department. I show that the
Charles Dolph
wiley   +1 more source

Risk Factors and Outcomes Associated With Delayed Villous Maturation in Placenta: A Systematic Review and Meta‐Analysis

BJOG: An International Journal of Obstetrics &Gynaecology, EarlyView.
ABSTRACT Background Delayed villous maturation (DVM) is a placental maturation disorder that mainly affects maternal‐to‐foetal oxygen transfer. Objectives We conducted a systematic review, meta‐analysis, and sensitivity analysis exploring study heterogeneities (I2) of risk factors and outcomes associated with histopathological findings of DVM.
Muhammad Pradhiki Mahindra, Muhammad Pradhika Mapindra, Hadi Waheed, Owen Vaughan, John Ciaran Hutchinson, Sara L. Hillman, Dimitrios Siassakos   +6 more
wiley   +1 more source