Results 71 to 80 of about 5,117,941 (155)

Prognostic implications of abnormalities of chromosome 13 and the presence of multiple cytogenetic high-risk abnormalities in newly diagnosed multiple myeloma

, 2017
Fluorescence in situ hybridization evaluation is essential for initial risk stratification in multiple myeloma. While the presence of specific cytogenetic high-risk abnormalities (HRA) is known to confer a poor prognosis, less is known about the ...
M Binder, P T Greipp, S R Hayman, P Kapoor, F K Buadi, S R Zeldenrust, S K Kumar, M A Gertz, R P Ketterling, M Q Lacy, S J Russell, R A Kyle, A Dispenzieri, J A Lust, S V Rajkumar, Y L Hwa, R S Go, N Leung, W I Gonsalves   +18 more
core   +1 more source

Conduction Abnormalities After Transcatheter Aortic Valve Replacement [PDF]

, 2019
Transcatheter aortic valve replacement (TAVR) has been established as a therapeutic option for patients with severe symptomatic aortic stenosis who are of intermediate or higher surgical risk.
Kanjanauthai, S., Luigi Pirelli, Somsupha Kanjanauthai, Kliger, C. A., Pirelli, L., Chad A Kliger, Kabir Bhasin, Bhasin, K.   +7 more
core   +1 more source

NF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction

Diagnostics
Background/Objectives: Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder driven by mutations in the NF1 gene, whose pathogenesis centers on the loss of neurofibromin function and subsequent hyperactivation of the RAS/MAPK pathway. Notably,
Jingwei Ye, Yiyi Jiang, Hanmin Wang, Dan Wang   +3 more
doaj   +1 more source

Experience of the diagnosis and observation of a child with wolf-hirschhorn syndrome

Zdorovʹe Rebenka, 2017
Modern data about the causes, course peculiarities, principles of diagnosis and symptomatic treatment of Wolf-Hirshhorn syndrome are given in the article. The description of own clinical case is presented.
L.V. Besh, O.I. Matsyura, G.V. Bulak, V.N. Chyrun, V.P. Bobyk, D.V. Stakhnyak   +5 more
doaj   +1 more source

Multiple congenital musculoskeletal abnormalities in a mule foal: A case report

Musculoskeletal abnormalities in neonate equids represent a common condition, which includes angular limb deformities, defective carpal/tarsal bone ossification, contracted limb and mandibular/maxillary prognathism.
Benedetta Sorvillo, Micaela Sgorbini, Stefano Patroncini, Chiara Di Franco, Rebecca Moroni, Irene Nocera, Simonetta Citi   +6 more
core   +1 more source

Multiple congenital ocular abnormalities including microphthalmia, microphakia and aphakia in a Simmental cross bull [PDF]

, 2019
A 20-month-old Simmental cross bull presented to the Scottish Centre for Production Animal Health and Food Safety, University of Glasgow School of Veterinary Medicine, in April 2015 with multiple congenital ocular abnormalities including bilateral ...
Gamino Rodríguez, Virginia, Murdoch, Fraser, Orr, Jayne, Marchesi, Francesco, Virginia Gamino Rodríguez, Francesco Marchesi, Jayne Orr, Nicola Gladden, Fraser Murdoch, Gladden, Nicola, Rodríguez, Virginia Gamino   +10 more
core   +1 more source

Diagnostic and prognostic role of soft ultrasound markers in prenatal detection and assessment of foetal abnormalities

Various soft markers can be detected in the ultrasonography of foetuses, which can be related to chromosomal abnormalities and increases the risk of abnormalities, or they can be considered as normal variations that can disappear due to the pregnancy ...
Fatemeh Shariatinia, Ali Rashidi-Nezhad, Seyedeh Maryam Vafaei, Hamed Ghorani, Behnaz Moradi, Sanaz Sharifpour, Ali Rezvanimehr, Ashkan Bahrami, Mobina Fathi, Shirin Yaghoobpoor   +9 more
core   +1 more source

Haemostatic abnormalities in systemic lupus erythematosus

, 1983
Coagulation studies were performed in 112 consecutive patients with systemic lupus erythematosus (SLE). Abnormalities of haemostatic function occurred frequently and 96 abnormalities occurred in 64 of 112 (57 per cent) patients. Eighteen patients (16 per
Gladman, D D, Glynn, M F, Tozman, E C, Urowitz, M B   +3 more
core   +3 more sources

Optical genome mapping reveals complex cytogenetic abnormalities in multiple myeloma

Haematologica
Not available.
Jorge A. Palacios, Mónica Bernal, Jose R. Vílchez, Pilar Garrido, Pilar Jiménez, Juan F. Gutiérrez-Bautista, María C. Barrera-Aguilera, Lucía Ballesta, Teresa Rodríguez, María J. Olivares-Durán, Francisco Ruiz-Cabello   +10 more
doaj   +1 more source

Prenatal diagnosis and genetic analysis of fetal akinesia deformation sequence and multiple pterygium syndrome associated with neuromuscular junction disorders: A review

Taiwanese Journal of Obstetrics & Gynecology, 2012
Fetal akinesia deformation sequence is a clinically and genetically heterogeneous disorder characterized by a variable combination of arthrogryposis, fetal akinesia, intrauterine growth restriction, developmental abnormalities such as cystic hygroma ...
Chih-Ping Chen
doaj   +1 more source