Results 121 to 130 of about 866,956 (350)

Severe Obesity Hypoventilation Syndrome Treated with Auto-CPAP [PDF]

, 2016
Summary Obesity hypoventilation syndrome (OHS) is a serious medical condition that remains undiagnosed in seriously ill hospitalized patients. Significant improvement of daytime hypercapnia can be achieved with positive airway pressure (PAP) therapy. Bi-
Fast, MD, Zhanna, Grewal, MD, Ritu G.
core   +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

The Comparison of Nasopharyngeal Cephalometric Measurements between Two Groups with Anterior and Posterior Obstructions of Nasal Airway

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2004
Introduction: Two main causes of nasal airway obstruction and mouth breathing Consist: 1- anterior nasal obstruction is caused by obstruction in nasal cavity, 2- posterior (nasopharyngeal) obstruction is caused by adenoid enlargement and decreased ...
MR Baghersad, MH Toodehzaeim
doaj  

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

Homozygous Achondroplasia With Long‐Term Survival: Growth Patterns, Medical Interventions, and Practice Implications

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Homozygous achondroplasia is widely considered perinatal lethal by the medical community. In this case series, we report two children from a single family with longer‐term survival. One child lived for 17 months and the other was 60 months at the time of publication.
Hannah Singerline, Jason Laufman, Kimberly Wallis, Michelle Merrill   +3 more
wiley   +1 more source

Facilitating Genetic Testing for Perinatal Demise: Development of a Multidisciplinary Workflow

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Genetic contributors to perinatal demise are common but frequently undiagnosed due to clinical and logistical barriers. We aimed to improve access to genetic for intrauterine fetal demise (IUFD), stillbirth, and early neonatal death by developing a multidisciplinary workflow.
Mackenzie Mosera, Samantha Stover, Elise Boos, Molly Casey, Joseph Fanning, Chelsea Fechter, Matthew Grace, L. Dupree Hatch, Michaela Ibach, Carla Jackson, Jiancong Liang, Caitlin Mann, Emily A. Morris, Jessica Turnbull, Marie Williams, Bryce A. Schuler   +15 more
wiley   +1 more source

Impending Complete Airway Obstruction from a Reinforced Orotracheal Tube: a Case Report

Acta Medica Iranica, 2015
Reinforced tubes are commonly used to minimize the opportunity of upper airway obstruction in patients at risk. There are a few reports of the airway obstruction resulted from kinked reinforced tubes. This report describes the obstruction of a reinforced
Nima Hosseinzadeh, Shahram Samadi, Mihan Jafari Javid, Alireza Takzare   +3 more
doaj  

Airway obstruction [PDF]

Anaesthesia, 1972
openaire   +2 more sources

Mechanisms of Mitochondrial Toxicity and Cytotoxicity Caused by Pseudomonas aeruginosa Pyocyanin in Human Nasal Epithelial Cells

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Pseudomonas aeruginosa is an opportunistic pathogen in cystic fibrosis‐related chronic rhinosinusitis (CF‐CRS) that produces phenazine metabolites pyocyanin and 1‐hydroxyphenazine (1‐HP), which may have detrimental effects on mitochondria, reactive oxygen species (ROS), Ca2+ signaling, and apoptosis.
Joel C. Thompson, April Park, Yobouet Ines Kouakou, Zoey A. Miller, Nabil F. Darwich, Nithin D. Adappa, James N. Palmer, Ryan M. Carey, Robert J. Lee   +8 more
wiley   +1 more source