Results 71 to 80 of about 557,454 (176)

m.10010T>C Mitochondrial Disease: A Case Report With Hypoparathyroidism and Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Mitochondria are essential intracellular organelles that play a critical role in cellular metabolism, including the regulation of intracellular calcium signaling. Advances in genomic sequencing have facilitated the identification of rare pathogenic mitochondrial DNA (mtDNA) genetic variants in patients with unexplained endocrine disorders.
Jacob Mohr, Anja Lisbeth Frederiksen, Morten Duno, Anne Pernille Hermann, Trine Maxel Juul, Simone Rask Nielsen   +5 more
wiley   +1 more source

Asthma and Pregnancy [PDF]

Journal of Asthma, 1990
Asthma is one of the most common medical problems to complicate pregnancy. Review of the literature suggests that equal proportions of women improve, worsen, and stay the same regarding their asthma course during pregnancy. Review of the literature also reveals that asthmatic women may be at increased risk of adverse perinatal outcomes, but optimal ...
openaire   +2 more sources

De Novo 2.2 Mb 19q13.42–q13.43 Microdeletion Encompassing U2AF2: Support for a Haploinsufficiency Model

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT U2 small nuclear RNA auxiliary factor 2 (U2AF2) is an essential pre‐mRNA splicing factor involved in the early stages of pre‐mRNA splicing. To date, multiple individuals have been reported with predominantly heterozygous missense variants presenting intellectual disability, speech and motor delays, seizures, hypotonia, and thin or hypoplastic ...
Amanda Toledo, Sarah Araji, Weimin Bi, Seema R. Lalani   +3 more
wiley   +1 more source

Prevalence of Asthma Severities in Children and Adolescents in a Wilmington, DE Hospital [PDF]

, 2018
Asthma affects over 24 million individuals in the US and the prevalence of the condition is increasing in the US and worldwide. The prevalence of severe persistent asthma, which incurs a significant health and economic burden, is still poorly understood ...
King, MD, MPH, Katherine, McAna, PhD, John, McKinski, MPHc, Kevin   +2 more
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

Asthma in Vermont Dairy Farmers [PDF]

, 2017
Introduction. Although 5.4% of the Vermont population participates in agriculture as an occupation, little data exists on the prevalence of asthma in Vermont dairy farmers, due to inadequate sample sizes.
Close, Victoria Lauren, Everett, Wyll T, Kaminsky, David, Merriam-Stelfox, Rebecca, Paladugu, Sravana, Reibel, Jacob B, Russell, Ruby L, Ryan, Rebecca   +7 more
core   +1 more source

Local Specific IgE Levels Can Predict and Monitor the Therapeutic Response to Subcutaneous Immunotherapy With House Dust Mite

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Identifying predictive and monitoring biomarkers for allergen immunotherapy response is crucial for enhancing clinical efficacy. This study aims to investigate the systemic and local levels of immunoglobulins and identify potential biomarkers in house dust mite (HDM) allergic rhinitis (AR) patients who are undergoing subcutaneous ...
Xu Xu, Jingyun Li, Xu Zhang, Yu Song, Lin Xi, Luo Zhang, Yuan Zhang   +6 more
wiley   +1 more source

Asthma

Allergy, Asthma & Clinical Immunology
Abstract Asthma is one of the most common respiratory disorders in Canada, however, many Canadians with asthma remain poorly controlled. In most patients, control can be achieved through appropriate therapy, including: inhaled corticosteroids (ICS), combination ICS/long-acting beta2-agonists (LABA), “triple therapy” with ICS/LABA/long-acting ...
Andrew O’Keefe, Lori Connors, Ling Ling, Harold Kim   +3 more
openaire   +3 more sources

Impedance‐Controlled Multipoint Radiofrequency Ablation for Chronic Rhinitis: A Randomized Controlled Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background The purpose of this randomized controlled trial (RCT) was to demonstrate that posterior nasal nerve ablation treatment with the NEUROMARK System is superior to a sham control procedure in patients with chronic rhinitis. Methods In this prospective, multicenter, single‐blinded, superiority RCT, 132 participants were randomized 2:1 to
Masayoshi Takashima, Randall A. Ow, Richard D. Thrasher, Ellen M. O'Malley, William R. Blythe, Omar G. Ahmed   +5 more
wiley   +1 more source

Appropriate Medical Therapy Primarily Modifies Type 2 and Severity Biomarkers in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Appropriate medical therapy (AMT) is first‐line treatment for patients with chronic rhinosinusitis (CRS). We evaluated inflammatory structure, treatment‐induced changes, and biomarker‐outcome associations in AMT‐managed patients. Methods Fifty‐one CRS patients were evaluated before and after AMT which included a combination of oral ...
Asher C. Park, Brooke N. Gleason, Eli Stein, Saied Ghadersohi, Atsushi Kato, Stephanie Shintani‐Smith, David B. Conley, Kevin C. Welch, Robert C. Kern, Bruce K. Tan   +9 more
wiley   +1 more source