Antenatal ear examination is an integral part of the thorough examination of the fetal face. The discovery of an anomaly, whether it is made by chance or during a complementary in-depth examination, leads the practitioner to determine its isolated or associated character, in order to characterise its possible belonging to a syndromic entity. In this context, the realization of genetic analysis more precise and wider allowing a return of the results in a time compatible with an evolutive pregnancy, gives to the geneticist a central role in the management of these couples. The main challenge lies in obtaining a set of concordant clinical and biological clues, enabling the genetic results identified to be interpreted correctly, the optimised functioning of the ultrasound practitioner - geneticist duo is therefore fundamental. This results in a complex information to deliver, in the fact that the clinical translation of an ear anomaly in antenatal can go from an isolated aesthetic anomaly to a genetic syndrome with neurodevelopmental disorder. The objective of this work is to describe, from a methodological analysis of antenatal ears, the accessible malformative entities, isolated or associated, and to discuss the problems in the need or not to propose their screening.
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http://dx.doi.org/10.1016/j.gofs.2022.05.005 | DOI Listing |
Cureus
December 2024
Family Medicine, Louisiana State University Health Sciences Center, Alexandria, USA.
The VACTERL (vertebral defects, anal atresia, cardiac defects, tracheoesophageal fistula, renal anomalies, and limb abnormalities) association represents an enigmatic syndrome requiring further study. This report describes a full-term neonate born to a multiparous woman who was found, upon further examination, to have multiple congenital abnormalities, including a bicuspid aortic valve, patent foramen ovale, tracheoesophageal fistula (TEF), asymmetric crying facies, microphallus, and a single inguinal testis. The discussion explores environmental and genetic factors that may contribute to this association, as well as similar conditions, such as CHARGE (coloboma, heart defects, choanal atresia, growth retardation, genital abnormalities, and ear abnormalities) syndrome.
View Article and Find Full Text PDFNoise Health
January 2025
Department of Ophthalmology, Ningde Municipal Hospital of Ningde Normal University, Ningde, Fujian, China.
Background: With the aging of the population, the deterioration of visual and auditory functions amongst the elderly has attracted much attention. Age-related hearing loss (ARHL) and age-related macular degeneration (AMD) are common eye and ear diseases that seriously affect the quality of life of elderly population.
Methods: This study utilised a whole cohort sampling method, with a total of 713 participants aged 50 years and older in the community from June 2022 to October 2023, resulting in the inclusion of 620 participants.
Cureus
December 2024
General and Family Medicine, Câmara de Lobos Health Center, Serviço de Saúde da Região Autónoma da Madeira, Entidade Pública Empresarial da Região Autónoma da Madeira (SESARAM, EPERAM), Câmara de Lobos, PRT.
Immune thrombocytopenic purpura (ITP) is an autoimmune condition characterized by a reduced platelet count due to enhanced peripheral destruction and impaired platelet production. While thrombocytopenia is a well-documented complication of various viral infections, cytomegalovirus (CMV), a member of the Herpesviridae family, is primarily associated with infections in immunocompromised patients and is rarely implicated in causing severe thrombocytopenia in immunocompetent patients. This article aims to highlight the importance of considering CMV as a significant etiological factor in ITP, particularly in cases of asymptomatic thrombocytopenia.
View Article and Find Full Text PDFPsychophysiology
January 2025
Research Group Health Psychology, KU Leuven, Leuven, Belgium.
Transcutaneous auricular vagus nerve stimulation (taVNS) has been tested as a strategy to facilitate fear extinction learning based on the hypothesis that taVNS increases central noradrenergic activity. Four studies out of six found taVNS to enhance extinction learning especially at the beginning of extinction. Facilitatory effects of taVNS were mainly observed in US expectancy, less in fear-potentiated startle (FPS), and not in the skin conductance response (SCR).
View Article and Find Full Text PDFEar Hear
December 2024
Sensorineural Pathology Programme, Centro de Investigación Biomédica en Red en Enfermedades Raras, CIBERER, Madrid, Spain.
Objectives: To estimate the prevalence of tinnitus and hyperacusis in patients with vestibular migraine (VM), and to define the association with hearing loss, anxiety, and depression.
Design: A cross-sectional, multicenter study including 51 adult patients with definite or probable VM, defined according to the Barany Society diagnostic criteria. Audiological examinations were performed by pure tones extended to high frequencies to assess hearing thresholds.
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