Results 221 to 230 of about 464,115 (319)

Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT A molecular diagnosis is currently achievable in approximately 50% of patients assessed by clinical geneticists at tertiary care centres. Next‐Generation Sequencing Panels contain a defined group of genes associated with a clinically defined set of phenotypes.
Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein, Alexandra Inman, Sanjiv Bhalla, Jianghong An, Jan M. Friedman, Rosanna Weksberg, Cornelius Boerkoel, Steven J. M. Jones, William T. Gibson   +10 more
wiley   +1 more source

Comparative Analysis of Pediatric and Adult Mastocytosis: Clinical Presentation, Triggers, and Treatment Patterns from a Tertiary Care Registry. [PDF]

Children (Basel)
NoorSaeed SM, Khalaf R, Alenezi A, Fields E, Prosty C, Alrafiaah AS, Miedzybrodzki B, Netchiporouk E, Sampalis J, Fein M, Ben-Shoshan M.   +10 more
europepmc   +1 more source

Men’s Exposure to Women’s Odors: The Effect of Women’s Waist to Hip Ratio and Steroid Hormones

, 2013
Ana Lilia Cerda‐Molina
openalex   +1 more source

Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat, Marjolaine Champagne, Mathieu Bergeron, Philippe Dodin, Nadia Roumeliotis   +4 more
wiley   +1 more source

A systematic review of therapeutic options for lymphocytic esophagitis. [PDF]

Dis Esophagus
Nguyen B, Cheng CF, Jowhari F.
europepmc   +1 more source

Healthcare Resource Utilization and Cost After Temperature‐Controlled Radiofrequency Treatment of Nasal Airway Obstruction: A Real‐World Longitudinal Claims Analysis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Nasal airway obstruction (NAO) is prevalent with substantial health and quality of life burdens. Nasal valve collapse (NVC) is one structural cause of NAO. Temperature‐controlled radiofrequency (TCRF) nasal valve remodeling offers an alternative to invasive surgery.
David W. Kennedy, Gavin Setzen, Ashleigh A. Halderman, Kevin C. Welch, Bobby Tajudeen, Gary M. Owens, Paul J. Niklewski, Masayoshi Takashima   +7 more
wiley   +1 more source

The Global Airways in Practice: Long‐term Effects of Mepolizumab With or Without FESS on Type 2 Inflammation in Patients With CRSwNP

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) is a type 2 inflammatory disease often associated with asthma. The global airway hypothesis suggests bidirectional inflammatory interactions between upper and lower airways. Mepolizumab, an anti–IL‐5 therapy, treats conditions systemically, while functional endoscopic sinus surgery ...
Jens Tidemandsen, Vibeke Backer, Anne Sophie Homøe, Thomas H. L. Jensen, Kasper Aanæs, Howraman Meteran, Morten Hostrup, Lukas Moesgaard, Christiane Haase, Peter G. Gibson   +9 more
wiley   +1 more source

Acute kidney injury induced by topical hair straightening products: A systematic review. [PDF]

World J Nephrol
Aamir AB, Latif R, Sorath F, Chander S, Latif A, Rahaman Z, Mohammed YN, Parkash O, Devi P, Hassan GA, Alalwan BM.   +10 more
europepmc   +1 more source

Development of Artificial Intelligence for Quantitative Assessment of Nasal Inflammatory Cytology in Chronic Rhinitis by Whole‐Slide Images

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinitis (CR) is currently recognized as a syndrome that manifests in different phenotypes. We aimed to establish an artificial intelligence system (quantitative assessment of nasal inflammatory cytology, QANIC) on the basis of whole‐slide images (WSIs) to enable quantitative assessment of nasal inflammatory cells.
Xu Zhang, Xu Xu, Weiwei Liu, Long Qin, Yu Song, Jingyun Li, Lin Xi, Chengshuo Wang, Luo Zhang, Yuan Zhang   +9 more
wiley   +1 more source