111,854 research outputs found
Monomelic amyotrophy associated with the 7472insC mutation in the mtDNA tRNA Ser(UCN) gene
No full textWe describe a 49-year-old male patient who experienced progressive amyotrophy with no sensorial abnormality in the left arm since 45 years of age. The neuromuscular syndrome was identical to that known as Hirayama disease, a rare form of focal lower motor neuron disease affecting the C7-C8-T1 metamers of the spinal cord. Asymmetric neurosensorial hearing loss was present since age 35 in the patient, and was also documented in an elder sister and in the mother. A muscle biopsy showed cytochrome c oxidase (COX) negative fibers but no ragged-red fibers, and mild reduction of COX was confirmed biochemically. The patient was found to have high levels of a known pathogenic mutation of mtDNA, the 7472insC in the gene encoding the tRNA Ser(UCN). Investigation on several family members showed a correlation between mutation load and clinical severity. This is the second report documenting the association of lower motor neurone involvement with a specific mtDNA. © 2004 Elsevier B.V. All rights reserved
author-bios-SRD-19-0063.R1 – Supplemental material for The Network Structure of Police Misconduct
No full textSupplemental material, author-bios-SRD-19-0063.R1 for The Network Structure of Police Misconduct by George Wood, Daria Roithmayr and Andrew V. Papachristos in Socius</p
Ipoacusia e declino cognitivo: Revisione della letteratura
No full textAge-related hearing loss (ARHL) has a multifactorial pathogenesis and it is an inevitable hearing impairment associated with reduction of communicative skills related to ageing. Increasing evidence has linked ARHL to more rapid progression of cognitive decline and incidental dementia. Many aspects of daily living of elderly people have been associated to hearing abilities, showing that hearing loss (HL) affects the quality of life, social relationships, motor skills, psychological aspects and function and morphology in specific brain areas. Epidemiological and clinical studies confirm the assumption of a relationship between these conditions. However, the mechanisms are still unclear and are reviewed herein. Long-term hearing deprivation of auditory inputs can impact cognitive performance by decreasing the quality of communication leading to social isolation and depression and facilitate dementia. On the contrary, the limited cognitive skills may reduce the cognitive resources available for auditory perception, increasing the effects of HL. In addition, hearing loss and cognitive decline may reflect a ‘common cause’ on the auditory pathway and brain. In fact, some pathogenetic factors are recongised in common microvascular disease factors such as diabetes, atherosclerosis and hypertension. Interdisciplinary efforts to investigate and address HL in the context of brain and cognitive ageing are needed. Surprisingly, few studies have been adressed on the effectiveness of hearing aids in changing the natural history of cognitive decline. Effective interventions with hearing aids or cochlear implant may improve social and emotional function, communication, cognitive function and positively impact quality of life. The aim of this review is to overview new insights on this challenging topic and provide new ideas for future research
Going Beyond Counting First Authors in Author Co-citation Analysis
No full textThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
No full text“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
The monitoring role of otoacoustic emissions and oxidative stress markers in the protective effects of antioxidant administration in noise-exposed subjects: a pilot study
No full textBACKGROUND: Oxidative stress has been recently identified as the pivotal pathway of cochlear damage. The aims of this study were to evaluate whether distortion product otoacoustic emissions (DPOAEs) can discriminate normal subjects with a risk of damage induced by sound exposure, the effectiveness of OAEs in monitoring the protective effects of Coenzyme Q10 terclatrate (QTer), and the role of blood parameters in monitoring preventive therapies. MATERIAL/METHODS: Twenty volunteers were randomized to two groups: the first (n=10) was treated with Q-Ter (200 mg orally once daily) for 7 days before noise exposure and the second group was treated with placebo using the same schedule. All participants were exposed to white noise of 90 dB HL for 15 minutes. DPOAEs and pure-tone audiometry (PTA) were measured before and 1 h, 16 h, and 7 and 21 days after exposure. Inflammatory and oxidative stress parameters were measured before and 2 and 24 h after exposure. RESULTS: In the placebo group, DPOAE amplitudes were reduced 1 and 16 h after exposure compared with the baseline values (p0.1). PTA threshold values in the Q-Ter and placebo groups did not differ before and after exposure. No significantly different levels of the inflammatory markers were observed in the Q-Ter and placebo groups at the different time points. CONCLUSIONS: This pilot study confirms that DPOAEs represent a sensitive test for monitoring the effects of noise in preclinical conditions and pharmacological treatment
An Insight into Role of Auditory Brainstem in Tinnitus: A Systematic Review of Diagnostic Assessments
No full textBackground/Objectives: Tinnitus is a complex auditory phenomenon with multifactorial origins, often involving both peripheral and central auditory pathways. Given the multifactorial nature of tinnitus, this review specifically focuses on the auditory brainstem as it represents the first central relay for auditory input and a key site of abnormal synchrony and central gain, which may generate or modulate tinnitus even when peripheral hearing appears normal. Several studies suggest a potential role of brainstem dysfunction in its pathogenesis, even among patients with normal hearing thresholds. Although the physiopathological data provide evidence for the role of brainstem in the generation and magnification of tinnitus, the diagnostic tools are still unclear. This systematic review aimed to investigate the diagnostic relevance of brainstem-level abnormalities in individuals with tinnitus. Methods: Following PRISMA guidelines, a literature search was conducted using PubMed, Scopus, and Web of Science from January 2000 to June 2025. Studies were included if they addressed the diagnostic relationship between tinnitus and brainstem involvement. Data on auditory brainstem response (ABR), otoacoustic emissions (used to differentiate peripheral from central auditory abnormalities), neuroimaging, and electrophysiological markers were extracted. Results: Twenty studies were included. Most used ABR as a diagnostic tool, revealing significant amplitude and latency alterations in tinnitus patients compared to controls, particularly in wave V and V/I amplitude ratios. Imaging studies supported altered brainstem-cortical connectivity and localized changes in inferior colliculus (IC) activity. Additional techniques, such as middle-latency evoked potentials and gap-in-noise detection, showed potential but lacked consistent clinical utility. Conclusions: Evidence suggests that brainstem dysfunction may contribute to tinnitus generation or persistence. ABR and advanced imaging represent specific diagnostic tools, though standardization and high-quality studies are still needed to improve clinical applicability
Medical-legal evaluation of laryngeal dysfunction to determine disability
No full textThe "New Table indicating the percentage of disability resulting from injury and disabling diseases" approved by the Italian Ministerial Decree dated February 5, 1992 gives a superficial, highly disorganized handling of laryngeal pathologies. This Table only considers phonatory function disorders which are included in a special section; it totally neglects dyspnea and dysphagia of laryngeal origin. This omission cannot even be overcome on the basis of similarities since there are no analogous items listed for reference. In fact, the parameters applied to evaluate dyspnea (CV, VEMS, O2 consumption) apply to ventilation disorders of a pulmonary nature and cannot, therefore, be used in cases of laryngeal dyspnea. Moreover, the Table does not deal with dysphagia at all. In addition, the basis for the Table--the concept of permanent functional damage--is not always adhered to in giving indications for evaluation of phonatory tract damage. The purpose of the present work is not, however, to propose a different way to determine the percentages for the individual items in the tables; rather, the aim is to suggest a different, highly standardized procedure for evaluating laryngeal dysfunctions which is easy to apply
Unveiling neural impairment and the underlying molecular mechanisms of cisplatin-induced cochlear damage
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