Results 131 to 140 of about 546,283 (295)

ADNP‐Related Helsmoortel–Van der Aa Syndrome: A Review of the Literature and Clinical Recommendations for Assessment and Monitoring

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT ADNP‐related Helsmoortel–Van der Aa syndrome (ADNP‐related HVDAS) is a single gene form of autism spectrum disorder (ASD) caused by pathogenic sequence variants in the activity‐dependent neuroprotective protein (ADNP) gene. In addition to ASD, ADNP‐related HVDAS is associated with a wide range of cognitive, behavioral, and physical health ...
Jarrett Fastman, Ana Kolevzon, Paige Siper, Tess Levy, Jeffrey M. Saland, Yitzchak Frank, Robert Rapaport, Kayla Kupietzky, William E. Bennett Jr, Bruce Gelb, Sandra Bedrosian Sermone, Alexander Kolevzon   +11 more
wiley   +1 more source

Dual Aberrant Splicing Caused by an Apparently Missense CHD7 Variant, c.5273A>G (p.Asp1758Gly), in CHARGE Syndrome

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT CHARGE syndrome is a rare congenital disorder primarily attributed to heterozygous pathogenic variants of the CHD7 gene. Most pathogenic CHD7 variants are loss‐of‐function (LoF) variants, whereas the interpretation of missense variants remains challenging in the absence of functional evidence for their pathogenicity.
Takashi Okuno, Tatsuto Shimizu, Aiko Igarashi, Kazumi Ikeda, Masamichi Ikawa, Sumihito Togi, Hiroki Ura, Yo Niida, Katsutsugu Umeda   +8 more
wiley   +1 more source

Milestone Attainment in Young Children With Arthrogryposis Multiplex Congenita: Developmental Profile and Associated Factors

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Evidence on developmental milestones in children with arthrogryposis multiplex congenita (AMC) under the age of five is scarce. This multisite cross‐sectional study described developmental status and examined factors associated with milestone attainment in 143 children aged 0–66 months from a pediatric AMC Registry.
Ahlam Zidan, Sophia C. Pasia, Emmanouil Rampakakis, Reggie Hamdy, Frank Rauch, Lauren C. Hyer, Joel Lerman, Haluk Altiok, Krister Freese, Cary Mielke, Sarah B. Nossov, Philip F. Giampietro, Thania Ordaz‐Robles, Noémi Dahan‐Oliel   +13 more
wiley   +1 more source

Tezepelumab in Chinese Patients With Severe Chronic Rhinosinusitis With Nasal Polyps: A Prespecified Subgroup Analysis of the Phase 3 WAYPOINT Trial

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis with nasal polyps (CRSwNP) in Chinese patients often exhibits a mixed Type 1/2/3 inflammatory phenotype (63%), potentially impacting the efficacy of biologics targeting Type 2 inflammation. This prespecified subgroup analysis of WAYPOINT (NCT04851964) evaluated the efficacy and safety of tezepelumab in Chinese
Li Hu, Houyong Li, Xicai Sun, Quan Liu, Yu Xu, Jiangang Fan, Andrew Foster, Claudia Chen, Yun Chon, Dehui Wang   +9 more
wiley   +1 more source

My Journey with the All India Difficult Airway Association

Airway, 2021
Sheila Nainan Myatra
doaj   +1 more source

Rigid airway [PDF]

Cleveland Clinic Journal of Medicine, 2020
Masaki, Itagane, Hiroyuki, Yano, Tomoo, Kishaba, Mitsuyo, Kinjo   +3 more
openaire   +2 more sources

Inflammatory Signatures Beyond Th1/Th2 Endotypes Provide Insights Into Postoperative Recurrence in Chronic Rhinosinusitis

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Chronic rhinosinusitis (CRS) represents a spectrum of inflammatory endotypes, driven by distinct T helper (Th) immune responses. The high rate of recurrent disease despite appropriate medical and surgical interventions highlights the need for improved characterization beyond the traditional type 2 and non‐type 2 phenotypes to better
Liyona Kampel, Narin N. Carmel, Shaun Edalati, Hen Chaushu, Forsan Jahshan, Yaniv Hadi, Timur Pestrikov, Leonor Leider Trejo, Nidal Muhanna, Avraham Abergel   +9 more
wiley   +1 more source

Clinical Longitudinal Evaluation After Regimen Stop (CLEAR) of Dupilumab in Chronic Rhinosinusitis With Nasal Polyps (CRSwNP)

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Long‐term management strategies for severe chronic rhinosinusitis with nasal polyps (CRSwNP) increasingly include biologic therapy targeting Type 2 inflammation. However, data on outcomes after complete discontinuation of dupilumab following sustained disease control are scarce.
Patrick Huber, Manuel Lasch, Veronika Volgger, Clemens Stihl, Philipp Teupe, Fabienne Oettgen, Sophia Gantner, Moritz Gröger   +7 more
wiley   +1 more source

Microbial‐Metabolite Signatures Are Associated With Glucocorticoid Responsiveness in Chronic Rhinosinusitis With Nasal Polyps

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Patients with chronic rhinosinusitis with nasal polyps (CRSwNP) exhibit heterogeneous responses to oral glucocorticoids (GCs), but the biological basis of this variability remains unclear. Objective To identify gut microbiome‒plasma metabolomic signatures associated with GC responsiveness in CRSwNP patients and to compare their ...
Ying‐Ying Zhang, Xin‐Yu Ding, Mei‐Ping Lu, Yan‐Bing Chen, Ye Yuan, Lin Jiang, Min Zhang, Lei Cheng   +7 more
wiley   +1 more source

Biologics Adoption in CRSwNP and the Associated Decline in Endoscopic Sinus Surgery: A Longitudinal Claims Database Study

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Biologic treatments were introduced for chronic rhinosinusitis with nasal polyps (CRSwNP) in 2019. Treatment algorithms for medically refractory CRSwNP remain open, with patients choosing among surgery, biologics, or both. Real‐world utilization of surgery and biologics remains incompletely characterized.
Stephanie Shintani Smith, Sam L. Kaefer, Harsh Duvvuru, Robert C. Kern, Brent A. Senior, Vijay R. Ramakrishnan   +5 more
wiley   +1 more source