Rehabilitation of the patients suffering from with congenital malformations of external and middle ear is a specific area of medicine requiring special knowledge and skills of the audiologists and ear surgeons. This article highlights the issues of epidemiology, classification and methods for the rehabilitation of patients presenting with this pathology that reflect our own experience and the methodology based on it for all phases of both functional and aesthetic surgical inerventions. Special attention is given to the assessment of the effectiveness of the treatment, as part of the evaluation of the quality of medical services. The results were demonstrated in 56 patients aged from 5 to 17 years. 32 of them underwent reconstructive, hearing improving surgery (meatotympanoplasty), 24 patients were managed by means of the implantation of the bone-anchored hearing systems. The assessment of the effectiveness of the treatment was conducted according to the algorithm developed by the authors, including free field pure tone audiometry and validated questionnaires for the assessment of the quality of life (the Glasgow Children's Benefit Inventory).
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http://dx.doi.org/10.17116/otorino201883451 | DOI Listing |
J Med Case Rep
January 2025
Department of Pediatrics, University Children Hospital, Damascus University, Damascus, Syria.
Background: Poikiloderma with neutropenia is a rare genetic disorder primarily characterized by the presence of poikiloderma and congenital chronic neutropenia. Mutations in the C16orf57 gene, which encodes the USB1 protein, are implicated as the underlying cause of poikiloderma with neutropenia.
Case Presentation: Our patient, an 11-year-old Syrian male child who presented with poikiloderma, palmoplantar keratoderma, pachyonychia, recurrent infections, and neutropenia, is considered to be the first documented case in Syria.
BMC Oral Health
January 2025
Pediatric Dentistry Department, Faculty of Dentistry, Başkent University, 06490, Ankara, Turkey.
Background: Hypodontia is the absence of one or more teeth in the primary or permanent dentition during development, and radiographic imaging is the most common method of diagnosis. However, in recent years, artificial intelligence-based decision support systems have been employed to make highly accurate diagnoses. The aim of this study was to classify single premolar agenesis, multiple premolar agenesis, and without tooth agenesis using various artificial intelligence approaches.
View Article and Find Full Text PDFNat Commun
January 2025
National Institute of Health and Medical Research (INSERM) UMRS-976 HIPI, Paris Cité University, Saint-Louis Hospital, 75010, Paris, France.
Endotypes are characterized by the immunological, inflammatory, metabolic, and remodelling pathways that explain the mechanisms underlying the clinical presentation (phenotype) of a disease. Recessive dystrophic epidermolysis bullosa (RDEB) is a severe blistering disease caused by COL7A1 pathogenic variants. Although underscored by animal studies, the endotypes of human RDEB are poorly understood.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Neurosurgery, ASST Grande Ospedale Metropolitano Niguarda, Milano, Italy.
Spinal dural arteriovenous fistulas (SDAVFs) are the most common type of spinal vascular malformations. Multiple SDAVFs are unusual and can occur either synchronously or metachronously, as reported in the literature. We report on the unusual case of a woman with three separate SDAVFs, which were surgically treated within the same setting; the postoperative course was characterised by unexplained repeated haematoma formation within the surgical sites.
View Article and Find Full Text PDFBMJ Case Rep
January 2025
Paediatrics, Bahrain Defence Force Royal Medical Services, Riffa, Bahrain.
This case report provides details of the first documented case of pituitary stalk interruption syndrome (PSIS) with coexistent focal cortical dysplasia (FCD) in a young boy. The child's initial presentation was an afebrile, generalised tonic-clonic seizure associated with postictal drowsiness. During his first episode, the physical examination revealed a short, obese child with a micropenis and left cryptorchidism.
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