Results 91 to 100 of about 108,662 (262)

External ear

, 2015
  +5 more sources

Optimizing Diagnostic Accuracy of Clinical Red Flags in RASopathies

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT RASopathies are a group of genetic disorders caused by pathogenic variants in the RAS‐mitogen‐activated protein kinase (RAS–MAPK) signaling pathway, often presenting with congenital heart defects, craniofacial dysmorphisms, and developmental delays. To assess the diagnostic yield of genetic testing in patients with suspected RASopathies and to
Emanuele Bobbio, Martina Caiazza, Emanuele Monda, Giustina Aruta, Alberto Budillon, Augusto Esposito, Adelaide Fusco, Annapaola Cirillo, Marta Rubino, Immacolata Viscovo, Gioacchino Scarano, Matteo Della Monica, Vincenzo Nigro, Giulio Piluso, Leandro Pecchia, Maria Giovanna Russo, Giuseppe Limongelli   +16 more
wiley   +1 more source

The Diagnosis That Arrived Decades Late: Living Without and Then With Myhre Syndrome

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome (MIM #139210) is a rare multisystem disorder first described in 1981, characterized by short stature, neurodevelopmental delay, joint contractures, and cardiopulmonary complications. Its molecular basis, recurrent pathogenic variants in SMAD4, was not discovered until 2011. This narrative is based on a review of medical records,
Abdallah F. Elias
wiley   +1 more source

Clean Cut (adaptive, multimodal surgical infection prevention programme) for low‐resource settings: a prospective quality improvement study

BJS (British Journal of Surgery), EarlyView., 2020
Clean Cut is a multimodal, adaptive, checklist‐based infection prevention programme designed to improve compliance with six critical perioperative infection prevention practices. After introducing the programme at five hospitals in Ethiopia, compliance with critical infection prevention standards significantly improved and the relative risk of ...
J. A. Forrester, N. Starr, T. Negussie, D. Schaps, M. Adem, S. Alemu, D. Amenu, N. Gebeyehu, T. Habteyohannes, F. Jiru, A. Tesfaye, E. Wayessa, R. Chen, A. Trickey, S. Bitew, A. Bekele, T. G. Weiser   +16 more
wiley   +1 more source

Comparative Study of Combined Steroid-Antibiotic Aural Pack versus Antibiotic Drop in Otitis Externa

Bengal Journal of Otolaryngology and Head Neck Surgery
INTRODUCTION Otitis externa is an inflammatory condition of the skin of the external auditory canal that is characterized by generalized edema and erythema. It is a very common condition which is encountered in day to day outpatient services in the life
Jayanta Saha, Debabrata Biswas, Tithi Debnath, Subhadeep Chowdhury   +3 more
doaj   +1 more source

Novel MYL1 Intron Variant With Expanded Phenotype

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington, Marie Balslev‐Harder, Thomas Krag, Thomas van Overeem Hansen, Camilla Bernt Wulff, Ulrik Lausten‐Thomsen, Tina Duelund Hjortshøj, Elsebet Østergaard   +7 more
wiley   +1 more source

Anatomic Diagram as a Novel Assessment Strategy for Subclinical Local Residual Disease in Sinonasal Squamous Cell Carcinoma and Intestinal‐type Adenocarcinoma

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Objective In the last two decades, transnasal endoscopic surgery (TES) has become pivotal in the management of sinonasal tumors. This approach involves a multiblock tumor resection, adding complexity to the interpretation of surgical margins after pathological examination.
Piergiorgio Gaudioso, Leonardo Calvanese, Stefano Taboni, Giacomo Contro, Diego Cazzador, Tommaso Saccardo, Gloria Schiavo, Vittorio Rampinelli, Alberto Schreiber, Gabriele Testa, Cesare Piazza, Enzo Emanuelli, Davide Mattavelli, Piero Nicolai, Marco Ferrari   +14 more
wiley   +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

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

Rationale of New Grading System: Central Compartment Atopic Disease

International Forum of Allergy &Rhinology, EarlyView.
ABSTRACT Background Central compartment atopic disease (CCAD) has recently been recognized as a distinct phenotype within the spectrum of type 2–dominant chronic rhinosinusitis (CRS). Although international guidelines highlight polypoid changes in the central nasal cavity, standardized diagnostic and classification criteria are still lacking.
Ramón Moreno‐Luna, Carmen Palma‐Martínez, Serafin Sánchez‐Gómez, Isam Alobid, Daniel Martin‐Jimenez, José Miguel Villacampa‐Aubá, Christian Calvo‐Henríquez, Alfonso Del Cuvillo, Alfonso Santamaría‐Gadea, Jaime González‐García, Richard J. Harvey, John M. DelGaudio   +11 more
wiley   +1 more source