Results 21 to 30 of about 4,707 (196)

MicrotiaGPT: Appraisal of Microtia Care Recommendations From an Artificially Intelligent Chatbot. [PDF]

Laryngoscope Investig Otolaryngol
ABSTRACT Objective Evaluate the accuracy, comprehensiveness, and similarity to provider response of ChatGPT‐4o in providing patient education regarding microtia and aural atresia management. Methods Ten standardized inquiries were created across three domains (General Information, Hearing/Anatomy, Treatment Decision‐Making) and entered into ChatGPT‐4o.
Ayo-Ajibola O, Park S, Osterbauer B, Kallemeyn K, Gomez G.   +4 more
europepmc   +2 more sources

Microtia [PDF]

Praxis of Otorhinolaryngology, 2014
Microtia is a congenital malformation that is characterized by variation in severity and its association with other anomalies. Microtia may be a clinical sign of certain syndromes.
Suutarla, Samuli
core   +6 more sources

Molecular Characterisation of Treacher Collins Syndrome in a South African Cohort: Novel Disease-Causing Variants in TCOF1 and POLR1D. [PDF]

Mol Genet Genomic Med
Targeted next‐generation sequencing of South African patients with suspected Treacher Collins syndrome identified pathogenic variants in six cases, including multiple novel TCOF1 and POLR1D variants. These findings expand the African mutational spectrum and support panel‐based testing to improve diagnosis and genetic counselling in resource‐limited ...
Nevondwe P, Mudau M, Seymour H, Kerr R, Lombard Z, Krause A, Carstens N.   +6 more
europepmc   +2 more sources

Prenatal Tympanic Ring Anomaly Without Microtia: A Subtle Clue Toward Severe Early-Onset Monogenic Disorders. [PDF]

Prenat Diagn
ABSTRACT Objective To investigate the genetic etiologies and clinical significance of fetal tympanic ring abnormalities detected during second‐trimester ultrasound in the absence of microtia. Method Between November 2019 and June 2024, we examined the fetal tympanic rings of 10,277 unselected pregnant women during the 20–22 weeks of morphology ...
Lam YH, Shi M, Dong Z, Choy KW, Leung TY, Cao Y.   +5 more
europepmc   +2 more sources

Cat Eye Syndrome in a Sudanese Infant: Congenital Cataract in the Absence of Iris Coloboma: A Case Report. [PDF]

Clin Case Rep
ABSTRACT We report the first Cat Eye Syndrome case from Sudan: a 5‐month‐old female with growth retardation, craniofacial dysmorphism, congenital cataract without iris coloboma, and ventricular septal defect. Cytogenetics confirmed 47,XX,+idic(22)(q11.2).
Khalid R, Fadl-Elmula I.
europepmc   +2 more sources

Exploring the experiences of adults with microtia: A qualitative study [PDF]

, 2020
Objective: Microtia is a medically complex condition, with the option of surgery to address hearing and reconstruct the ear. The current study explored adults’ experiences of microtia, with a particular focus on the psychosocial impact and experiences of
Harcourt, Diana, Hamlet, Claire
core   +1 more source

Development of an interdisciplinary microtia‐atresia care model: A single‐center 20‐year experience

Laryngoscope Investigative Otolaryngology, 2022
Objectives Microtia and aural atresia are congenital ear anomalies with a wide‐ranging spectrum of phenotypes and varied functional and psychosocial consequences for patients. This study seeks to analyze the management of microtia‐atresia patients at our
Krupa R. Patel, Liliya Benchetrit, Evette A. Ronner, Jessica Occhiogrosso, Tessa Hadlock, David Shaye, Alicia M. Quesnel, Michael S. Cohen   +7 more
doaj   +1 more source

Experience in prenatal ultrasound diagnosis of fetal microtia and associated abnormalities

Frontiers in Medicine, 2023
ObjectivePrenatal ultrasound features, associated anomalies and genetic abnormalities of microtia cases were analyzed to explore the feasibility and value of prenatal ultrasound for the diagnosis of microtia.MethodsThe ultrasonographic features ...
Jing Qiu, Jing Qiu, Jing Qiu, Yanhui Ru, Yanhui Ru, Yanhui Ru, Yang Gao, Jie Shen   +7 more
doaj   +1 more source

Characterization of Distinct Chondrogenic Cell Populations of Patients Suffering from Microtia Using Single-Cell Micro-Raman Spectroscopy

Biomedicines, 2023
Microtia is a congenital condition of abnormal development of the outer ear. Tissue engineering of the ear is an alternative treatment option for microtia patients.
Dominika Zielinska, Hesham K. Yosef, Tilo Zollitsch, Johann Kern, Yvonne Jakob, David Gvaramia, Nicole Rotter, Luca Pontiggia, Ueli Moehrlen, Thomas Biedermann, Agnes S. Klar   +10 more
doaj   +1 more source

Demystifying Small Concha-type Microtia: Advancements in Classification and Surgical Approach

Plastic and Reconstructive Surgery, Global Open, 2022
Summary:. The accurate identification of microtia type is foundational to preoperative planning and intraoperative strategies for auricular reconstruction using an autologous costal cartilage framework.
Emily S. Chwa, BA, Peter J. Laub, MD, Akira Yamada, MD, PhD   +2 more
doaj   +1 more source