Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1002/pbc.30525 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Diagnosis of Diamond-Blackfan anemia in adulthood: case series and review of the literature.
Orphanet J Rare Dis
December 2024
Hematology Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.
Diamond-Blackfan anemia (DBA) is a rare constitutional inherited bone marrow failure syndrome (iBMF) characterized by progressive severe non-regenerative anemia and congenital abnormalities. Diagnosis is made by identification of a DBA-causing variant, typically in a ribosomal protein gene. More than 99% of patients are diagnosed in the pediatric age, but clinical manifestation may be mild and severe anemia can occur later in the patient's life.
View Article and Find Full Text PDFTranscanal Endoscopic Ear Surgery for Pediatric Bilateral Congenital Cholesteatoma: A Report of Two Cases.
J Int Adv Otol
November 2024
Department of Otolaryngology, Head and Neck Surgery, Kobe University Faculty of Medicine, Hyogo, Japan.
Bilateral congenital cholesteatoma (BCC) is rare among congenital cholesteatoma (CC) cases, and bilateral surgery poses a significant psychophysical burden on pediatric patients. Here, we present 2 pediatric cases of BCC that were successfully managed using simultaneous bilateral transcanal endoscopic ear surgery (TEES). The surgical approach provided clear visualization of the middle ear structures, enabling successful cholesteatoma removal with minimal invasiveness and a short operative time.
View Article and Find Full Text PDFAuditory System Abnormalities in Early Graying of Hair: A Cross-Sectional Study.
Indian Dermatol Online J
September 2024
Department of ENT and Head and Neck Surgery, All India Institute of Medical Sciences, Guntur, Andhra Pradesh, India.
Background: Melanocytes in the hair and melanocytes in the stria vascularis of the inner ear have common origins. Many congenital and acquired disorders of cutaneous pigmentation have auditory abnormalities. There is a paucity of studies on the auditory associations of early graying.
View Article and Find Full Text PDFOcular findings in Baraitser-Winter syndrome with a de novo mutation in the ACTG1 gene: a case report.
BMC Ophthalmol
December 2024
Department of Ophthalmology, Daegu catholic university school of medicine, Daegu, Korea.
Background: Baraitser-Winter syndrome (BWS) is rare, and no previous reports have described the visual course of patients with this condition. Herein, we report the long-term visual outcomes and ocular features of a 6-year-old patient diagnosed with BWS.
Case Presentation: A 6-year-old female patient visited our clinic complaining of low vision.
Long Term Surgical Outcome of Canal-Tympanoplasty in Patients with Schuknecht Type B Congenital Aural Stenosis.
Clin Exp Otorhinolaryngol
December 2024
Department of Otorhinolaryngology-Head and Neck Surgery, Seoul National University Hospital, Seoul, Korea.
Background: Congenital aural atresia (CAA) is a complex condition that can present in various forms, including Schuknecht type B stenosis, characterized by a congenitally narrow bony external auditory canal (EAC). This study aims to evaluate the long-term surgical outcomes of canal-tympanoplasty in patients with CAA Schuknecht type B.
Methods: The study included 21 ears diagnosed with CAA Schuknecht type B that underwent canal-tympanoplasty.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!