Results 101 to 110 of about 335,213 (265)

Pulmonary hypertension due to a pulmonary artery leiomyosarcoma: A case report

ARYA Atherosclerosis, 2014
BACKGROUND: Primary pulmonary artery sarcomas are very rare and their histologic type called leiomyosarcoma is even rarer. These tumors are frequently misdiagnosed as pulmonary thromboembolism in clinical settings.
Hassan Adeli, Bardia Nemati, Mahboubeh Jandaghi, Mohammad Mahdi Riahi, Fatemeh Salarvand   +4 more
doaj  

A Case of Multiple Mitochondrial Dysfunctions Syndrome 1 and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Multiple mitochondrial dysfunctions syndrome 1 (MMDS1, MIM #605711) due to NFU1 gene defects is an ultra‐rare autosomal recessive inborn error of metabolism associated with reduced function of NFU1 iron–sulfur cluster (ISC) scaffold protein.
Charles R. DiFalco, Aaron Williams, Claudia Soler‐Alfonso, Emily Waskow, Elizabeth Mizerik, Fernando Scaglia, Chaya N. Murali   +6 more
wiley   +1 more source

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Right inferior phrenic artery to right pulmonary artery fistula causing hemothorax: A case report

Radiology Case Reports
Inferior phrenic artery to pulmonary artery fistulae are a rare anomaly seen on CT thorax angiogram when evaluating for certain pulmonary pathological conditions.
Anthony D'Angelo, MS, Hasan Khan, MD, Garrett Coleman, BBA, Irfan Masood, MD   +3 more
doaj   +1 more source

Review of the Molecular and Developmental Basis of Myhre Syndrome, Bench Research

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MS) is a connective‐tissue disorder within the acromelic dysplasia spectrum. It is characterized by congenital craniofacial, skeletal, cutaneous anomalies, respiratory, cardiovascular along with intellectual disability, deafness, and progressive fibrosis.
Camille Viaut, Valerie Cormier‐Daire
wiley   +1 more source

Sarcoma of the pulmonary artery mimicking pulmonary artery embolism

European Heart Journal, 2019
Srdjan, Kostic, Stefan, Guth, Georg, Bachmann, Christian W, Hamm, Roland, Klingenberg   +4 more
openaire   +2 more sources

Posthumously Diagnosed Myhre Syndrome Presenting With Pleural Remodeling and Endometrial Cancer

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (OMIM 139210) is a genetic condition defined by neurodevelopmental disability, characteristic facial features, and multisystem proliferative fibrosis. While various types of lung disease have been reported, pleural remodeling leading to restrictive lung disease has not yet been described.
Jeanette Saffir, Karee Morgan, Karigynn Chaimson, Blake E. Funke, Kim L. Sandler, Melissa Hogan, Thomas Cassini   +6 more
wiley   +1 more source

Regional gas exchange evaluation during ex vivo lung perfusion in a swine model of localized lung dysfunction

Animal Models and Experimental Medicine, EarlyView.
Abstract Background Ex vivo lung perfusion (EVLP) allows the evaluation of lungs that do not meet standard transplantation criteria. Current procedures do not permit the identification of regional functional deficits. We investigated the feasibility of assessing lobar gas exchange during EVLP in a swine model.
Giulia Maria Ruggeri, Elena Chiodaroli, Matteo Montoli, Sara Pieropan, Alessandro Santini, Gianluca Lopez, Michele Battistin, Luigi Vivona, Sebastiano Maria Colombo, Jacopo Fumagalli, Eleonora Carlesso, Stefano Ferrero, Lorenzo Rosso, Stefano Gatti, Antonio Maria Pesenti, Giacomo Grasselli, Alberto Zanella   +16 more
wiley   +1 more source

A novel rat model of pulmonary artery embolism and the application value of lung ultrasound B‐lines in early‐stage pulmonary embolism

Animal Models and Experimental Medicine, EarlyView.
We report a novel embolus‐induced PE rat model prepared via the inferior vena cava under ultrasound guidance. The embolus employed featured a tubular plastic casing filled with thrombus. By minimizing the contact surface between plasmin and thrombus, it effectively restrains the elevated plasmin activity in rats.
Huide Ma, Shuangrui Wang, Honghui Li, Yaxing Zhang, Yuman Gao, Jie Zhou, Xia Xu, Rong Wu   +7 more
wiley   +1 more source