Results 131 to 140 of about 185,637 (336)
Gastrointestinal Manifestations in Rubinstein‐Taybi Syndrome
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rubinstein–Taybi syndrome is a rare genetic condition associated with a wide range of physical, cognitive, and developmental impairments, yet its gastrointestinal manifestations remain poorly characterized. Case reports and small series suggest a high prevalence of gastroesophageal reflux, constipation, dysphagia, and nutritional compromise ...
Mohamad Abi Nassif +3 more
wiley +1 more source
Development and Evaluation of an Internet-Based Airway Evaluation Tutorial [PDF]
, 2003 Airway evaluation and basic management are essential skills for all physicians. Identifying patients for whom mask ventilation or endotracheal intubation will be difficult to impossible is vital for patient safety.
Euliano ,MD, Tammy Y. +3 more
core
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Wilson disease (WD) is an autosomal recessive disorder of copper metabolism caused by ATP7B mutations. Diagnosis is usually straightforward in symptomatic patients, but can be challenging in children and adolescents with mild liver disease, borderline urinary copper excretion, or inconclusive genetic findings.
Emanuele Nicastro +10 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The transformation/transcription domain‐associated protein (TRRAP) gene encodes a large multidomain protein, a member of the phosphatidylinositol 3‐kinase‐related kinase (PIKK) family. TRRAP is a component of the histone acetyltransferase (HAT) complex, and it plays an important role in gene transcription, DNA repair, and cell‐cycle regulation.
Roseli Maria Zechi‐Ceide +10 more
wiley +1 more source
Direct numerical simulations of flow in realistic mouth–throat geometries [PDF]
, 2012 Nicolaou, L, Zaki, TA
core +1 more source
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 +6 more
wiley +1 more source
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 +5 more
wiley +1 more source
First description of a histamine receptor of class 2 (HRH2) in a protochordate: expression during blastogenesis and role in regulation of ciliary beat frequency [PDF]
, 2016 Histaminergic receptors belong to the family of seven-transmembrane \u3b1-helix domain receptors classified in mammals into four distinct classes. Despite being widely studied in vertebrates, few data are available on the invertebrate receptors, with ...
Cima, Francesca
core
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 +9 more
wiley +1 more source