Results 101 to 110 of about 28,289 (290)

Tracheal Paraganglioma Presenting with Acute Airway Obstruction [PDF]

, 2005
Paragangliomas of the larynx are rare lesions that are often confused with other primary and secondary laryngeal neoplasms. Location in the subglottis is exceptionally rare.
Craig B. Fowler, Peter G. Michaelson, Fowler, Craig B., Brennan, Joseph, Michaelson, Peter G., Joseph Brennan   +5 more
core   +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

Therapy for Myhre Syndrome: Goals, Misconceptions, and Current Agents

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre Syndrome (MYHRS, MIM #139210) is a rare, multisystem connective tissue disorder caused by recurrent heterozygous gain‐of‐function pathogenic variants in the SMAD4 gene, a key player in TGF‐β signaling and a regulator of extracellular matrix homeostasis.
Alessandro De Falco, Alfonso Manuel D'Alessio, Nicola Brunetti‐Pierri   +2 more
wiley   +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

Airway obstruction and bronchodilator responsiveness in adults with acute cough [PDF]

, 2012
: PURPOSE We sought to determine the prevalence of airway obstruction and bronchodilator responsiveness in adults consulting for acute cough in primary care.
Coenen, Samuel, van Vugt, Saskia, Goossens, Herman, Broekhuizen, Lidewij, Zuithoff, Nicolaas, et al.   +5 more
core   +4 more sources

Nasal obstruction of the newborn: a differential diagnosis

International Archives of Otorhinolaryngology, 2009
Introduction: The nasal obstruction is potentially severe when affecting newborns, preferential nasal breathers. The newborns with nasal obstruction may present from an asymptomatic affection up to a severe situation of airway obstruction, with cyclical ...
Silva, Daniela Brunelli e, Kuhl, Gabriel, Smith, Mariana Magnus, Schweiger, Claúdia, Manica, Denise   +4 more
doaj  

A whole-genome scan for recurrent airway obstruction in Warmblood sport horses indicates two positional candidate regions [PDF]

, 2009
Recurrent airway obstruction (RAO), or heaves, is a naturally occurring asthma-like disease that is related to sensitisation and exposure to mouldy hay and has a familial basis with a complex mode of inheritance. A genome-wide scanning approach using two
Klukowska-Rötzler, Jolanta, Temperton, E., Dolf, Gaudenz, Bogle, H., Swinburne, J.E., Drögemüller, Cord, Leeb, Tosso, Gerber, Vinzenz   +7 more
core   +1 more source

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

Fungi in the respiratory tract of horses with recurrent airway obstruction

Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2014
This study aims to compare the concentration of viable fungi, especially those of the genus Aspergillus in the respiratory tract of stabled horses with and without Recurrent Airway Obstruction (RAO).
M.O. Xavier, C.E.W. Nogueira, M. Meirelles, W.R. Fernandes, H. Andreolla, L.C. Severo, A.C. Pasqualotto, M.C.A. Meireles   +7 more
doaj   +1 more source

Effect of hay dust extract and cyathostomin antigen stimulation on cytokine expression by PBMC in horses with recurrent airway obstruction [PDF]

, 2013
Equine recurrent airway obstruction (RAO) is an inflammatory, obstructive airway disease induced by exposure of susceptible horses to inhaled organic dust particles. The immunological process underlying RAO is still unclear.
Klukowska-Rötzler, Jolanta, Matthews, Jacqueline B., Gottstein, Bruno, Rettmer, Helen, Hamza, Eman, Simone Lanz, Lanz, Simone, Marti, Eliane Isabelle, Jacqueline B. Matthews, Pirie, Scott, Eliane Marti, Scott Pirie, Bruno Gottstein, Gerber, Vinzenz, Vincent Gerber, Jolanta Klukowska-Rötzler, Helen Rettmer, Eman Hamza   +17 more
core   +1 more source