Results 71 to 80 of about 77,059 (283)

Evaluation of risk factors for thrombophilia in patients with cerebral venous thrombosis [PDF]

, 2010
Objective: The increased risk for thrombosis is known as hypercoagulability or thrombophilia. In our study, we aimed to determine the frequency of the identified defects for thrombophilia in patients with central venous thrombosis aged under 50 years and
Funda Ceran, Gülsüm Özet, Mesude Yılmaz, Murat Albayrak, Osman Yokuş, Simten Dağdaş, Özlem Şahin Balçık   +6 more
core  

A multilevel perspective on MSH6‐associated Lynch syndrome: Integrating molecular, biological, and clinical insights

International Journal of Cancer, EarlyView.
Abstract Lynch syndrome (LS) is the most common hereditary colorectal cancer syndrome, caused by a germline pathogenic variant in one of the mismatch repair (MMR) genes. Among these, MSH6‐associated LS represents a distinct subtype with unique molecular and clinical characteristics.
Salwa Ben Yahia, Anne‐Sophie van der Werf‐'t Lam, Madalina Cabuta, Maartje Nielsen, Noah C. Helderman   +4 more
wiley   +1 more source

Migraine and vascular disease biomarkers: A population-based case-control study. [PDF]

, 2018
Background The underpinnings of the migraine-stroke association remain uncertain, but endothelial activation is a potential mechanism. We evaluated the association of migraine and vascular disease biomarkers in a community-based population.
Ferrari, Michel D., Herial, Nabeel, Khubchandani, Jagdish, Koppen, Hille, Kruit, Mark C., Launer, Lenore J., Palm-Meinders, Inge H., Terwindt, Gisela M., Tietjen, Gretchen E., van Buchem, Mark A.   +9 more
core   +2 more sources

Deep learning‐based prediction of cervical lymph node metastasis and genetic alterations from whole‐slide images of thyroid cancer frozen sections

Interdisciplinary Medicine, EarlyView.
Deep learning models accurately predict cervical lymph node metastasis and key genetic mutations (BRAF/TERT) directly from thyroid cancer frozen sections. This AI‐driven pipeline provides a rapid real‐time tool to guide intraoperative surgical decisions, helping to optimize surgical extent and prevent both over‐ and under‐treatment without the need for
Mingxing Qiu, Jinbang Li, Shujing Guo, Danyi Li, Chengyu Lu, Chenglong Zhao, Jiankun He, Hanxi Wang, Qiao Bai, Aihetaimu Aimaier, Zhijian Cen, Rui Mao, Zimo Ye, Jiaxue Zang, Zhining Zhuo, Lijuan Qu, Yueping Liu, Jing Cui, Xiaohong Yao, Xiuwu Bian, Li Liang   +20 more
wiley   +1 more source

Is porto sinusoidal vascular disease to be actively searched in patients with portal vein thrombosis? [PDF]

, 2019
Porto sinusoidal vascular liver disease (PSVD) and portal vein thrombosis (PVT) are distinct vascular liver diseases characterized, respectively, by an intrahepatic and a prehepatic obstacle to the flow in the liver portal system. PVT may also occur as a
D'Amati, G., Gioia, S., Nardelli, S., Ridola, L., Riggio, O.   +4 more
core   +1 more source

Antithrombin: Deficiency, Diversity, and the Future of Diagnostics

Mass Spectrometry Reviews, EarlyView.
ABSTRACT Our healthcare system provides reactive sick‐care, treating patients after symptoms have appeared by prescription of generic and often suboptimal therapy. This strategy brings along high costs and high pressure which is not sustainable.
Mirjam Kruijt, Christa M. Cobbaert, L. Renee Ruhaak   +2 more
wiley   +1 more source

Associations of Monocyte Glucocerebrosidase with Cognition and Cholinergic Innervation in GBA1 Parkinson's Disease

Movement Disorders, EarlyView.
Abstract Background The GBA1 gene encodes the lysosomal enzyme glucocerebrosidase (GCase). Parkinson's disease (PD) patients carrying a GBA1 variant (GBA‐PD) exhibit faster cognitive decline, linked to cholinergic degeneration. Objectives The aim was to investigate whether GCase activity, measured in monocytes, correlates with cognitive dysfunction or ...
Sofie Slingerland, Sygrid van der Zee, Sven C.D. van Ijzendoorn, Anne C. Slomp, Jeffrey M. Boertien, Sanne K. Meles, Arjan Kol, Marie Geerlings, Teus van Laar   +8 more
wiley   +1 more source

FV Leiden, Prothrombin II, and MTHFR C677T Mutations in Children and Young Adults with Thromboembolic Diseases

Medical Journal of Babylon
Background: The main markers for estimation of the tendency for thromboembolic disorders are Factor V Leiden, Prothrombin gene (G20210A), and MTHFR (C677T) polymorphism.
Sura O. AL-Dewachi, Wasem Alkafaf, Farah Mudhafar Fattah, Salman Haza, Muna A. Kashmoola   +4 more
doaj   +1 more source

Natural history of patients with non cirrhotic portal hypertension: Comparison with patients with compensated cirrhosis [PDF]

, 2018
Background. The knowledge of natural history of patients with portal hypertension (PH) not due to cirrhosis is less well known than that of cirrhotic patients. Aim.
Aprile, Francesca, Gioia, Stefania, Merli, Manuela, Nardelli, Silvia, Nicoletti, Valeria, Pasquale, Chiara, Pentassuglio, Ilaria, Riggio, Oliviero   +7 more
core   +1 more source

Unraveling the spatial landscape of dystrophinopathies: a transcriptomic approach to Becker and Duchenne muscular dystrophies

The Journal of Pathology, EarlyView.
Abstract Dystrophinopathies are caused by pathogenic variants in the DMD gene, resulting in partial (Becker) or complete loss (Duchenne) of dystrophin. Becker (BMD) and Duchenne muscular dystrophy (DMD) are characterized by progressive muscle wasting, fatty replacement, fibrosis, and loss of function.
Laura GM Heezen, Qirong Mao, Stefan Nicolau, Claudio Novella Rausell, Julia van der Weerd, Jan Kueckelhaus, Rasya Gokul Nath, Jordi Diaz‐ Manera, Hermien E Kan, Erik H Niks, Maaike van Putten, Annemieke Aartsma‐Rus, Kevin M Flanigan, Ahmed Mahfouz, Pietro Spitali   +14 more
wiley   +1 more source