Results 41 to 50 of about 7,240 (211)

Evaluation of systemic consequences of brachycephalic obstructive airway syndrome in dogs

Veterinary Record, EarlyView.
Abstract Background Brachycephalic obstructive airway syndrome (BOAS) results from upper airway anatomical abnormalities and may cause systemic effects depending on severity. Methods A prospective, case‒control and observational study was conducted.
Andréia Coutinho Facin, Ariadne Rein, Isabella de Almeida Fabris, Beatriz Gasser, Luiz Paulo Nogueira Aires, Bruna Bressianini Lima, Daniele Azevedo Gandra, Daniela Gomes da Silva, Ricardo Andrés Ramirez Uscategui, Gabriela Castro Lopes Evangelista, Marcus Antônio Rossi Feliciano, Paola Castro Moraes   +11 more
wiley   +1 more source

Comprehensive in silico and functional studies for classification of EPAS1/HIF2A genetic variants identified in patients with erythrocytosis

Haematologica, 2023
Gain-of-function mutations in the EPAS1/HIF2A gene have been identified in patients with hereditary erythrocytosis that can be associated with the development of paraganglioma, pheochromocytoma and somatostatinoma.
Valéna Karaghiannis, Darko Maric, Céline Garrec, Nada Maaziz, Alexandre Buffet, Loïc Schmitt, Vincent Antunes, Fabrice Airaud, Bernard Aral, Amandine Le Roy, Sébastien Corbineau, Lamisse Mansour-Hendili, Valentine Lesieur, Antoine Rimbert, Fabien Laporte, Marine Delamare, Minke Rab, Stéphane Bézieau, Bruno Cassinat, Frédéric Galacteros, Anne-Paule Gimenez-Roqueplo, Nelly Burnichon, Holger Cario, Richard van Wijk, Celeste Bento, François Girodon, David Hoogewijs, Betty Gardie   +27 more
doaj   +1 more source

Investigation and management of erythrocytosis [PDF]

Canadian Medical Association Journal, 2020
KEY POINTS Erythrocytosis refers to an erythrocyte count above the sex-specific normal range and can be subclassified into relative erythrocytosis, caused by a reduction in plasma volume (hemoconcentration), or absolute erythrocytosis, caused by increased erythrocyte mass.
Siraj, Mithoowani, Marissa, Laureano, Mark A, Crowther, Christopher M, Hillis   +3 more
openaire   +2 more sources

Erythrocytosis due to PHD2 Mutations: A Review of Clinical Presentation, Diagnosis, and Genetics

Case Reports in Hematology, 2016
The association of mutations in the PHD2 protein of the hypoxia-sensing pathway and erythrocytosis has only been established in the last decade. Here we report the case of a novel PHD2 gene mutation in a patient with erythrocytosis and summarize all ...
Rachel Wilson, Nausheen Syed, Prabodh Shah   +2 more
doaj   +1 more source

Cardiovascular Plasticity and Adaptation of High‐Altitude Birds and Mammals

Integrative Zoology, EarlyView.
This schematic depicts the cardiovascular adaptations of mammals and birds to high‐altitude hypoxia. It highlights key phenotypic changes in oxygen transport and cardiac responses, driven by molecular mechanisms including transcriptional regulation and genetic modifications.
Huishang She, Yanhua Qu
wiley   +1 more source

A rare case of renal oncocytoma associated with erythrocytosis: case report

BMC Urology, 2006
Background Oncocytomas are benign tumors of the kidney that are usually diagnosed postoperatively due to differential diagnostic problems from renal cell carcinoma.
Tahmatzopoulos Anastasios, Tzakas Konstantinos, Radopoulos Demetrios   +2 more
doaj   +1 more source

What anabolic–androgenic steroids reveal about the limits of current harm reduction models

Addiction, EarlyView.
Abstract Background Harm reduction has largely been shaped by responses to psychoactive drug use where the most urgent harms are acute. These models focus on overdose, blood‐borne viruses, and rapid‐onset toxicity related harms. When applied wholesale to anabolic–androgenic steroids (AAS), they obscure the distinctive pharmacology, consumer typologies,
Timothy Piatkowski, Jason M. Nagata, Suzanne Nielsen   +2 more
wiley   +1 more source

Giant myoma and erythrocytosis syndrome [PDF]

, 1999
The objective of this study is to discuss the myomatous erythrocytosis syndrome in a patient with a giant subserous uterine myoma. She presented with plethora and an abdominal mass.
Dikmen, Y, Kazandi, M, Ozsaran, AA, Terek, C, Itil, IM   +4 more
core   +1 more source

Hemochromatosis Gene Mutation in Persons Developing Erythrocytosis on Combined Testosterone and SGLT-2 Inhibitor Therapy

Journal of Investigative Medicine High Impact Case Reports, 2022
In clinical trials, sodium-glucose cotransporter-2 inhibitors (SGLT-2i) use alone in persons with type 2 diabetes (T2D) or testosterone replacement therapy (TRT) prescription alone in men with hypogonadism was shown to lead to a modest but significant ...
Kamilya A. Schumacher BA, Aidar R. Gosmanov MD, PhD, FACE   +1 more
doaj   +1 more source

From variant detection to interpretation in idiopathic erythrocytosis: A structured approach applied to a clinical cohort

British Journal of Haematology, EarlyView.
Targeted next‐generation sequencing combined with a structured interpretative framework integrating gene–disease validity, population data, computational predictions, ACMG criteria and structural modelling enabled prioritisation of rare variants in idiopathic erythrocytosis, highlighting the genetic heterogeneity and biological complexity underlying ...
Alessandra Giannella, Fabrizio Vianello, Simone Zoletto, Arianna Magrini, Ilaria Gianesello, Gianni Binotto, Nicolo’ Danesin, Jessica Ceccato, Giulia Gualtiero, Maria Piazza, Samuela Carraro, Valeria Carabotta, Francesco Cinetto, Alessandro Cellini, Marco Carraro, Carmela Gurrieri, Laura Pavan, Francesco Piazza, Andrea Visentin, Walter Ageno, Livio Trentin, Giulio Ceolotto   +21 more
wiley   +1 more source