Cochlear Implant Outcomes and Genetic Mutations in Children with Ear and Brain Anomalies

Background. Specific clinical conditions could compromise cochlear implantation outcomes and drastically reduce the chance of an acceptable development of perceptual and linguistic capabilities. These conditions should certainly include the presence of inner ear malformations or brain abnormalities. The aims of this work were to study the diagnostic value of high resolution computed tomography (HRCT) and magnetic resonance imaging (MRI) in children with sensorineural hearing loss who were candidates for cochlear implants and to analyse the anatomic abnormalities of the ear and brain in patients who underwent cochlear implantation. We also analysed the effects of ear malformations and brain anomalies on the CI outcomes, speculating on their potential role in the management of language developmental disorders. Methods. The present study is a retrospective observational review of cochlear implant outcomes among hearing-impaired children who presented ear and/or brain anomalies at neuroimaging investigations with MRI and HRCT. Furthermore, genetic results from molecular genetic investigations (GJB2/GJB6 and, additionally, in selected cases, SLC26A4 or mitochondrial-DNA mutations) on this study group were herein described. Longitudinal and cross-sectional analysis was conducted using statistical tests. Results. Between January 1, 1996 and April 1, 2012, at the ENT-Audiology Department of the University Hospital of Ferrara, 620 cochlear implantations were performed. There were 426 implanted children at the time of the present study (who were <18 years). Among these, 143 patients (64 females and 79 males) presented ear and/or brain anomalies/lesions/malformations at neuroimaging investigations with MRI and HRCT. The age of the main study group (143 implanted children) ranged from 9 months and 16 years (average = 4.4; median = 3.0). Conclusions. Good outcomes with cochlear implants are possible in patients who present with inner ear or brain abnormalities, even if central nervous system anomalies represent a negative prognostic factor that is made worse by the concomitant presence of cochlear malformations. Common cavity and stenosis of the internal auditory canal (less than 2 mm) are negative prognostic factors even if brain lesions are absent

Aging, cognitive decline and hearing loss: outcomes of auditory rehabilitation in older adults.

Introduction. Restoring a sensory function in older adults might allow a significant improvement in their cognitive status. Although specific clinical conditions could compromise management and drastically reduce the chance of acceptable outcomes, auditory rehabilitation with cochlear implants or hearing aids still remains one of the most effectiveness procedure. Advances in research and technology suggest a functional “adaptation” in central processes that could influence other related or not strictly related activities, such as memory and working memory, frontal and pre-frontal processes, orientation, calculation, logic and executive functions. Since the link between hearing loss and cognitive decline has been clarified, scientific community is currently finding out the lacking evidence of effectiveness of auditory rehabilitation in reducing or counteracting cognitive decline. Material and Methods. Hearing impaired patients with more than 65 years of age, affected with mild to profound hearing loss were enrolled in the present study; complete audiological assessment and cognitive status evaluation were performed in order to define personal scores for comparison in longitudinal testing after different auditory rehabilitation. A control group was created for statistical purposes and made of cases matched per age and clinical status, without hearing loss and cognitive decline. Different subgroups were created to reduce heterogeneity in terms of entity of hearing loss, duration of auditory deprivation, type of auditory rehabilitation and training. A follow up of 6-12 months has been carried out for selected patients. Results. To date, 77 subjects have been included in the present study and divided in 5 different groups based on types and degree of hearing loss. Statistical analyses with t-student test and fisher exact test, shows a significant difference in depression and cognitive status scores before and after auditory rehabilitation. In addition there are no differences between the control group (20 subjects) and patients who have a good outcomes after auditory training and rehabilitation. Discussion. Auditory rehabilitation shows significant effectiveness even among older adults with different degrees of hearing loss, and positive improvements are detectable in terms of social isolation, depression and cognitive performances. In future research, it will be crucially important to unravel how sensory abilities are linked to cognitive functioning in aging. Conventional medical assessment is often not enough to assess older people with multiple comorbidities. In the end, a multidisciplinary approach is still the best option, and geriatrics should include specific sensorineural investigations to manage elderly patients who are generally at risk of cognitive decline and hearing loss

Aging, Cognitive Load, Dementia and Hearing Loss

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Aging, Cognitive Decline and Hearing Loss: Effects of Auditory Rehabilitation and Training with Hearing Aids and Cochlear Implants on Cognitive Function and Depression among Older Adults

A growing interest in cognitive effects associated with speech and hearing processes is spreading throughout the scientific community essentially guided by evidence that central and peripheral hearing loss is associated with cognitive decline. For the present research, 125 participants older than 65 years of age (105 with hearing impairment and 20 with normal hearing) were enrolled, divided into 6 groups according to their degree of hearing loss and assessed to determine the effects of the treatment applied. Patients in our research program routinely undergo an extensive audiological and cognitive evaluation protocol providing results from the Digit Span test, Stroop color-word test, Montreal Cognitive Assessment and Geriatric Depression Scale, before and after rehabilitation. Data analysis was performed for a cross-sectional and longitudinal study of the outcomes for the different treatment groups. Each group demonstrated improvement after auditory rehabilitation or training on shortand long-term memory tasks, level of depression and cognitive status scores. Auditory rehabilitation by cochlear implants or hearing aids is effective also among older adults (median age of 74 years) with different degrees of hearing loss, and enables positive improvements in terms of social isolation, depression and cognitive performance

Equilibrium disorders in elderly: diagnostic classification and differential diagnosis

Background: Balance is primarily related to the proper functioning of three sensory input: vestibular, visual and proprioceptive. The integration of these different afferences contributes to the proper attitude of the body in static and dynamic conditions. Equilibrium disorders are common among elderly patients and are responsible for falls and fractures, leading sometimes to catastrophic outcomes, representing a serious health and social problem. Approximately one third of elderly patients at home and about 50% of institutionalized, over 75 year-old, suffer from this particular condition, with at least one fall a year and almost 50% of these with recurrent episodes. Females are more affected than males. Attempts to ascertain the underlying cause of unbalance should be done, leading then to specific treatment. Nevertheless, many elderly patients do not have a single disease but rather a multitude of medical conditions which may cause dizziness, imbalance and vertigo: effects of ageing, drugs, cardiovascular and neurological disorders, ocular and orthopaedic diseases. Aim of the study: A literature review was carried out with the intention to offer practical and useful notions for the management and treatment of equilibrium disorders. Discussion: In clinical practice, the main challenge is to distinguish between peripheral and central imbalance disorders. The data collected from history and clinical exams should be integrated with the intent to include the patient in one of the following clinical conditions: vertiginous syndrome, pre-syncope and/or syncope, neurological diseases, other conditions.Conclusions: Following the differential diagnosis, treatment mainly consists in drug administration (antiemetic and vestibular suppressor drugs) and vestibular rehabilitation (physiotherapy and vestibular exercises)

Identification of glomerular immune deposits in cryoglobulinemia glomerulonephritis

Identification of glomerular immune deposits in cryoglobulinemia glomerulonephritis. To provide further evidence of the nature of intraglomerular immune deposits in essential mixed cryoglobulinemia (EMC), we used two mouse monoclonal antibodies against cross-reactive idiotypes present on monoclonal rheumatoid factors (MoRFs) from patients with type II-EMC. MoAb Cc1 reacted with 9 of 16 circulating IgMk MoRFs tested, and MOAb Lc1 with four of the remaining. Using indirect immunofluorescence and immunoperoxidase techniques, we could identify the same cross-reactive idiotype of the serum MoRF in the renal biopsy specimens from 11 of 13 patients with EMC glomerulonephritis. Kidney specimens from the three patients, whose MoRF was not recognized by MoAbs Cc1 and Lc1, were negative. Two out of 30 control renal biopsies from patients with other forms of glomerulonephritis were shown to contain idiotype (Cc1 and Lc1) positive material. Both patients had serum polyclonal RF which could account for this finding. In conclusion, our results provide direct evidence that serum cryo-MoRF participate in the formation of glomerular immune deposits and, presumably, in the pathogenesis of renal damage in EMC glomerulonephritis

Transrectal ultrasonography in infertile patients with persistently elevated bacteriospermia

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Transgenic rabbit models for cardiac disease research.

To study the pathophysiology of human cardiac diseases and to develop novel treatment strategies, complex interactions of cardiac cells on cellular, tissue and whole heart levels need to be considered. As in vitro cell-based models do not depict the complexity of the human heart, animal models are used to obtain insights that can be translated to human diseases. Mice are the most commonly used animals in cardiac research, however, differences in electrophysiological and mechanical cardiac function and a different composition of electrical and contractile proteins limit the transferability of the knowledge gained. Moreover, the small heart size and fast heart rate are major disadvantages. In contrast to rodents, electrophysiological, mechanical, and structural cardiac characteristics of rabbits resemble the human heart more closely, making them particularly suitable as an animal model for cardiac disease research. In this review, various methodological approaches for the generation of transgenic rabbits for cardiac disease research - such as pronuclear microinjection, the sleeping beauty transposon system and novel genome editing methods (ZFN and CRISPR/Cas9) - will be discussed. In the second section, we will introduce the different currently available transgenic rabbit models for monogenic cardiac diseases (such as long-QT syndrome, short-QT syndrome, and hypertrophic cardiomyopathy) in detail, especially in regards to their utility to increase the understanding of pathophysiological disease-mechanisms and novel treatment options

Current Options for Visualization of Local Deformation in Modern Shape Analysis Applied to Paleobiological Case Studies

In modern shape analysis, deformation is quantified in different ways depending on the algorithms used and on the scale at which it is evaluated. While global affine and non-affine deformation components can be decoupled and computed using a variety of methods, the very local deformation can be considered, infinitesimally, as an affine deformation. The deformation gradient tensor F can be computed locally using a direct calculation by exploiting triangulation or tetrahedralization structures or by locally evaluating the first derivative of an appropriate interpolation function mapping the global deformation from the undeformed to the deformed state. A suitable function is represented by the thin plate spline (TPS) that separates affine from non-affine deformation components. F, also known as Jacobian matrix, encodes both the locally affine deformation and local rotation. This implies that it should be used for visualizing primary strain directions (PSDs) and deformation ellipses and ellipsoids on the target configuration. Using C = FTF allows, instead, one to compute PSD and to visualize them on the source configuration. Moreover, C allows the computation of the strain energy that can be evaluated and mapped locally at any point of a body using an interpolation function. In addition, it is possible, by exploiting the second-order Jacobian, to calculate the amount of the non-affine deformation in the neighborhood of the evaluation point by computing the body bending energy density encoded in the deformation. In this contribution, we present (i) the main computational methods for evaluating local deformation metrics, (ii) a number of different strategies to visualize them on both undeformed and deformed configurations, and (iii) the potential pitfalls in ignoring the actual three-dimensional nature of F when it is evaluated along a surface identified by a triangulation in three dimensions