Results 61 to 70 of about 683,524 (293)

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

The role of airway infection in chronic obstructive pulmonary disease [PDF]

, 2006
PhDThis. thesis examines the role of respiratory bacterial and viral infection in the natural history of Chronic Obstructive Pulmonary Disease. The rationale for this study is basedu pon previous data demonstratingt hat airway bacterial colonisationi s
Wilkinson, Thomas Michael Alan
core   +4 more sources

Predictors of Per-Intubation Cardiac Arrest in Pediatrics Patients Presenting to the Emergency Department

Saudi Journal of Emergency Medicine
Introduction: Airway management is one of the vital resuscitative procedures undertaken in many critically ill pediatric patients presenting for emergency care.
Noman Ali, Erum Shakeel, Haniya Ather, Nirdosh Kumar   +3 more
doaj   +1 more source

Maxillary tumor in a child: An expected case of difficult airway

Saudi Journal of Anaesthesia, 2016
Craniofacial abnormalities in pediatric population fall under the category of expected case of difficult airway. We present here a case of large maxillary tumor in a 9-year-old girl where the relative difficulty was further compounded due to her ...
Reena, A Vikram
doaj   +1 more source

Magnesium Alloys for use as an Intraluminal Tracheal Stent [PDF]

, 2013
Tracheal stenting is used for successful management of adult airway obstructions, including tracheal stenosis, a narrowing of the tracheal lumen due to trauma or prolonged intubation.
Luffy, Sarah
core  

Unusual pediatric airway: Clinical case report series

, 2023
Airway management in pediatric patients with craniofacial dysmorphism is even more difficult for the clinician. It is important for the clinician to have experience in pediatric airway management, because pediatric airway management can quickly become a ...
CANBAY, ÖZGÜR, ÖZEN, ÖZGE
core   +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

PedCAPNETZ – prospective observational study on community acquired pneumonia in children and adolescents

BMC Pulmonary Medicine, 2019
Background Pediatric community acquired pneumonia (pedCAP) is one of the leading causes for childhood morbidity accounting for up to 20% of pediatric hospital admissions in high income countries.
Martin Wetzke, Matthias Volkmar Kopp, Jürgen Seidenberg, Christian Vogelberg, Tobias Ankermann, Christine Happle, Gesche Voigt, Holger Köster, Thomas Illig, Christiane Lex, Antje Schuster, Marcus Panning, Grit Barten, Gernot Rohde, Tobias Welte, Gesine Hansen, pedCAPNETZ Study Group   +16 more
doaj   +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