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BACKGROUND: Congenital cytomegalovirus (cCMV) is the most common prenatal infection and the main infectious cause of neurodevelopmental abnormalities in developed countries. Long-term neuropsychological outcome of cCMV infection is still not well understood. This is the first study that presents linguistic follow-up data performed on adults who were infected in utero. METHOD: All individuals from a universal newborn CMV screening study in Sweden sampled from 1977 to 1985 were invited to participate in a follow-up study. 34/71 persons (48%) with cCMV and 22/46 controls (48%) were enrolled. Participants were between 34 and 43 years. Linguistic ability was evaluated with two-word fluency tasks (FAS letter fluency and verb fluency), and a qualitative analysis of the participants' word retrieval strategies was conducted. RESULTS: No statistically significant group differences were found in the total number of retrieved words. When related to Swedish norm data, 43% of participants with cCMV infection, all asymptomatic at birth, had adequate results on both FAS and verb fluency tasks, compared to 86% of the controls. Education level was the most important factor for word fluency ability in both groups. Adults with cCMV infection and higher education levels used less effective retrieval strategies on FAS letter fluency than controls. CONCLUSION: This study suggests that adults with cCMV infection may have deficits in the word retrieval process, even in the absence of known neurodevelopmental disorders. Long-term effects of cCMV infection may exist even in those with asymptomatic infection at birth.
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Infecções por Citomegalovirus , Citomegalovirus , Recém-Nascido , Gravidez , Adulto , Feminino , Humanos , Lactente , Seguimentos , Infecções por Citomegalovirus/complicações , Infecções por Citomegalovirus/epidemiologia , Infecções por Citomegalovirus/congênito , Triagem Neonatal/métodos , Suécia/epidemiologiaRESUMO
The human vestibulo-ocular reflex (VOR) leads to maintenance of the acuity of an image on the retina and contributes to the perception of orientation during high acceleration head movements. Our objective was to determine whether vision affects the horizontal VOR by assessing and comparing the performance at the boundaries of contribution of: (a) unrestricted visual information and (b) no visual information. Understanding how the VOR performs under both lighted and unlighted conditions is of paramount importance to avoiding falls, perhaps particularly among the elderly. We tested 23 participants (M age = 35.3 years, standard error of mean (SEM) = 2.0 years). The participants were tested with the video Head Impulse Test (vHIT), EyeSeeCam from Interacoustics™, which assesses whether VOR is of the expected angular velocity compared to head movement angular velocity. The vHIT tests were performed under two conditions: (a) in a well-lit room and (b) in complete darkness. The VOR was analyzed by evaluating the gain (quotient between eye and head angular velocity) at 40, 60 and 80 ms time stamps after the start of head movement. Additionally, we calculated the approximate linear gain between 0-100 ms through regression. The gain decreased significantly faster across time stamps in complete darkness (p < .001), by 10% in darkness compared with a 2% decrease in light. In complete darkness, the VOR gain gradually declined, reaching a marked reduction at 80 ms by 10% (p < .001), at which the head velocities were 150°/second or faster. The approximate linear gain value was not significantly different in complete darkness and in light. These findings suggest that information from the visual system can modulate the high velocity VOR. Subsequently, fast head turns might cause postural imbalance and momentary disorientation in poor light in people with reduced sensory discrimination or motor control, like the elderly.
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Reflexo Vestíbulo-Ocular , Visão Ocular , Humanos , Idoso , Adulto , Escuridão , Movimentos da Cabeça , AceleraçãoRESUMO
BACKGROUND: Diabetes is associated with inner ear dysfunction. Furthermore, C57BL/6J mice fed high fat diet (HFD), a model for insulin resistance and diabetes, develop endolymphatic hydrops (EH). AIM: Evaluate if betahistine, spironolactone (aldosterone antagonist) and empagliflozin (sodium -glucose cotransporter2 inhibitor) can prevent EH induced by HFD and explore potential mechanisms. METHODS: C57BL/6J mice fed HFD were treated with respective drug. The size of the endolymphatic fluid compartment was measured using contrast enhanced MRI. Secondarily, mice treated with cilostamide, a phosphodiesterase3 inhibitor, to induce EH and HEI-OC1 auditory cells were used to study potential cellular mechanisms of betahistine. RESULTS: HFD-induced EH was prevented by betahistine but not by spironolactone and empagliflozin. Betahistine induced phosphorylation of protein kinaseA substrates but did not prevent cilostamide-induced EH. CONCLUSIONS: Betahistine prevents the development of EH in mice fed HFD, most likely not involving pathways downstream of phosphodiesterase3, an enzyme with implications for dysfunction in diabetes. The finding that spironolactone did not prevent HFD-induced EH suggests different mechanisms for EH induction/treatment since spironolactone prevents EH induced by vasopressin, as previously observed. SIGNIFICANCE: This further demonstrates that independent mechanisms can cause hydropic inner ear diseases which suggests different therapeutic approaches and emphazises the need for personalized medicine.
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Diabetes Mellitus , Hidropisia Endolinfática , Resistência à Insulina , Animais , Camundongos , beta-Histina/efeitos adversos , Espironolactona/farmacologia , Espironolactona/uso terapêutico , Camundongos Endogâmicos C57BL , Hidropisia Endolinfática/tratamento farmacológico , Hidropisia Endolinfática/etiologia , Hidropisia Endolinfática/prevenção & controle , Imageamento por Ressonância MagnéticaRESUMO
This paper describes the Bárány Society Classification OverSight Committee (COSC) position on Cervical Dizziness, sometimes referred to as Cervical Vertigo. This involved an initial review by a group of experts across a broad range of fields, and then subsequent review by the Bárány Society COSC. Based upon the so far published literature, the Bárány Society COSC takes the view that the evidence supporting a mechanistic link between an illusory sensation of self-motion (i.e. vertigo - spinning or otherwise) and neck pathology and/or symptoms of neck pain - either by affecting the cervical vertebrae, soft tissue structures or cervical nerve roots - is lacking. When a combined head and neck movement triggers an illusory sensation of spinning, there is either an underlying common vestibular condition such as migraine or BPPV or less commonly a central vestibular condition including, when acute in onset, dangerous conditions (e.g. a dissection of the vertebral artery with posterior circulation stroke and, exceedingly rarely, a vertebral artery compression syndrome). The Committee notes, that migraine, including vestibular migraine, is by far, the commonest cause for the combination of neck pain and vestibular symptoms. The committee also notes that since head movement aggravates symptoms in almost any vestibular condition, the common finding of increased neck muscle tension in vestibular patients, may be linked as both cause and effect, to reduced head movements. Additionally, there are theoretical mechanisms, which have not been explored, whereby cervical pain may promote vaso-vagal, cardio-inhibitory reflexes and hence by presyncopal mechanisms, elicit â transient â disorientation and/or imbalance. The committee accepts that further research is required to answer the question as to whether those rare cases in which neck muscle spasm is associated with a vague sense of spatial disorientation and/or imbalance, is indeed linked to impaired neck proprioception. Future studies should ideally be placebo controlled and double-blinded where possible, with strict inclusion and exclusion criteria that aim for high specificity at the cost of sensitivity. To facilitate further studies in "cervical dizziness/vertigo", we provide a narrative view of the important confounds investigators should consider when designing controlled mechanistic and therapeutic studies. Hence, currently, the Bárány COSC refrains from proposing any preliminary diagnostic criteria for clinical use outside a research study. This position may change as new research evidence is provided.
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Transtornos de Enxaqueca , Doenças Vestibulares , Humanos , Tontura/diagnóstico , Tontura/complicações , Cervicalgia/diagnóstico , Vertigem/etiologia , Doenças Vestibulares/diagnóstico , Movimentos da Cabeça , Transtornos de Enxaqueca/diagnósticoRESUMO
Background: Traumas to the head and neck are common in sports and often affects otherwise healthy young individuals. Sports-related concussions (SRC), defined as a mild traumatic brain injury (mTBI), may inflict persistent neck and shoulder pain, and headache, but also more complex symptoms, such as imbalance, dizziness, and visual disturbances. These more complex symptoms are difficult to identify with standard health care diagnostic procedures. Objective: To investigate postural control in a group of former elite athletes with persistent post-concussive symptoms (PPCS) at least 6 months after the incident. Method: Postural control was examined using posturography during quiet stance and randomized balance perturbations with eyes open and eyes closed. Randomized balance perturbations were used to examine motor learning through sensorimotor adaptation. Force platform recordings were converted to reflect the energy used to maintain balance and spectrally categorized into total energy used, energy used for smooth corrective changes of posture (i.e., <0.1 Hz), and energy used for fast corrective movements to maintain balance (i.e., >0.1 Hz). Results: The mTBI group included 20 (13 males, mean age 26.6 years) elite athletes with PPCS and the control group included 12 athletes (9 males, mean age 26.4 years) with no history of SRC. The mTBI group used significantly more energy during balance perturbations than controls: +143% total energy, p = 0.004; +122% low frequency energy, p = 0.007; and +162% high frequency energy, p = 0.004. The mTBI subjects also adapted less to the balance perturbations than controls in total (18% mTBI vs. 37% controls, p = 0.042), low frequency (24% mTBI vs. 42% controls, p = 0.046), and high frequency (6% mTBI vs. 28% controls, p = 0.040). The mTBI subjects used significantly more energy during quiet stance than controls: +128% total energy, p = 0.034; +136% low-frequency energy, p = 0.048; and +109% high-frequency energy, p = 0.015. Conclusion: Athletes with previous mTBI and PPCS used more energy to stand compared to controls during balance perturbations and quiet stance and had diminished sensorimotor adaptation. Sports-related concussions are able to affect postural control and motor learning.
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Research into the potential associations between tinnitus and cognition has investigated specific cognitive domains in laboratory settings despite adults with tinnitus reporting broad cognitive difficulties in every-day life. To address this limitation, the present study compared performance and perceived exertion on a visual office-like task in 38 adults with tinnitus (19 with normal hearing and 19 with hearing loss) and 38 adults without tinnitus (19 with normal hearing and 19 with hearing loss) matched for age, sex and educational background. All participants were also assessed for hearing, anxiety and depression, and participants with tinnitus were also assessed for tinnitus handicap. No associations were found between presence of tinnitus and cognitive performance (mean total rate correct score on the visual office-like task being 2.9 for the tinnitus group, 2.8 for the control group, p = 0.612) and perceived exertion (mean ratings of perceived exertion on the Borg CR10-scale being 5.8 for the tinnitus group, 6.5 for the control group, p = 0.063) on the visual office-like task when corrected for standard (0.125 to 8 kHz) and extended high frequency (10 to 16 kHz) hearing thresholds, anxiety, and depression. The correction for extended high frequency average (10, 12.5, 14, and 16 kHz) hearing threshold was significant for performance (p = 0.009) but not perceived exertion on the visual office-like task. Overall, the results showed extended high frequency hearing, but not tinnitus, was associated with every-day cognitive performance. This indicates clinical testing of hearing thresholds above 8 kHz could support clinicians' identification and management of cognitive difficulties. One management method suggested by the current findings would include provision of auditory stimulation at frequencies exceeding the frequency response of many current hearing aids.
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This paper describes the diagnostic criteria for Acute Unilateral Vestibulopathy (AUVP), a synonym for vestibular neuritis, as defined by the Committee for the Classification of Vestibular Disorders of the Bárány Society. AUVP manifests as an acute vestibular syndrome due to an acute unilateral loss of peripheral vestibular function without evidence for acute central or acute audiological symptoms or signs. This implies that the diagnosis of AUVP is based on the patient history, bedside examination, and, if necessary, laboratory evaluation. The leading symptom is an acute or rarely subacute onset of spinning or non-spinning vertigo with unsteadiness, nausea/vomiting and/or oscillopsia. A leading clinical sign is a spontaneous peripheral vestibular nystagmus, which is direction-fixed and enhanced by removal of visual fixation with a trajectory appropriate to the semicircular canal afferents involved (generally horizontal-torsional). The diagnostic criteria were classified by the committee for four categories: 1. "Acute Unilateral Vestibulopathy", 2. "Acute Unilateral Vestibulopathy in Evolution", 3. "Probable Acute Unilateral Vestibulopathy" and 4. "History of Acute Unilateral Vestibulopathy". The specific diagnostic criteria for these are as follows:"Acute Unilateral Vestibulopathy": A) Acute or subacute onset of sustained spinning or non-spinning vertigo (i.e., an acute vestibular syndrome) of moderate to severe intensity with symptoms lasting for at least 24 hours. B) Spontaneous peripheral vestibular nystagmus with a trajectory appropriate to the semicircular canal afferents involved, generally horizontal-torsional, direction-fixed, and enhanced by removal of visual fixation. C) Unambiguous evidence of reduced VOR function on the side opposite the direction of the fast phase of the spontaneous nystagmus. D) No evidence for acute central neurological, otological or audiological symptoms. E) No acute central neurological signs, namely no central ocular motor or central vestibular signs, in particular no pronounced skew deviation, no gaze-evoked nystagmus, and no acute audiologic or otological signs. F) Not better accounted for by another disease or disorder."Acute Unilateral Vestibulopathy in Evolution": A) Acute or subacute onset of sustained spinning or non-spinning vertigo with continuous symptoms for more than 3 hours, but not yet lasting for at least 24 h hours, when patient is seen; B) - F) as above. This category is useful for diagnostic reasons to differentiate from acute central vestibular syndromes, to initiate specific treatments, and for research to include patients in clinical studies."Probable Acute Unilateral Vestibulopathy": Identical to AUVP except that the unilateral VOR deficit is not clearly observed or documented."History of acute unilateral vestibulopathy": A) History of acute or subacute onset of vertigo lasting at least 24 hours and slowly decreasing in intensity. B) No history of simultaneous acute audiological or central neurological symptoms. C) Unambiguous evidence of unilaterally reduced VOR function. D) No history of simultaneous acute central neurological signs, namely no central ocular motor or central vestibular signs and no acute audiological or otological signs. E) Not better accounted for by another disease or disorder. This category allows a diagnosis in patients presenting with a unilateral peripheral vestibular deficit and a history of an acute vestibular syndrome who are examined well after the acute phase.It is important to note that there is no definite test for AUVP. Therefore, its diagnosis requires the exclusion of central lesions as well as a variety of other peripheral vestibular disorders. Finally, this consensus paper will discuss other aspects of AUVP such as etiology, pathophysiology and laboratory examinations if they are directly relevant to the classification criteria.
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Nistagmo Patológico , Doenças Vestibulares , Neuronite Vestibular , Vestíbulo do Labirinto , Humanos , Neuronite Vestibular/diagnóstico , Vertigem/diagnóstico , Nistagmo Patológico/diagnósticoRESUMO
The amount of data available from genomic medicine has revolutionized the approach to identify the determinants underlying many rare diseases. The task of confirming a genotype-phenotype causality for a patient affected with a rare genetic disease is often challenging. In this context, the establishment of the Matchmaker Exchange (MME) network has assumed a pivotal role in bridging heterogeneous patient information stored on different medical and research servers. MME has made it possible to solve rare disease cases by "matching" the genotypic and phenotypic characteristics of a patient of interest with patient data available at other clinical facilities participating in the network. Here, we present PatientMatcher (https://github.com/Clinical-Genomics/patientMatcher), an open-source Python and MongoDB-based software solution developed by Clinical Genomics facility at the Science for Life Laboratory in Stockholm. PatientMatcher is designed as a standalone MME server, but can easily communicate via REST API with external applications managing genetic analyses and patient data. The MME node is being implemented in clinical routine in collaboration with the Genomic Medicine Center Karolinska at the Karolinska University Hospital. PatientMatcher is written to implement the MME API and provides several customizable settings, including a custom-fit similarity score algorithm and adjustable matching results notifications.
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Doenças Raras , Doenças não Diagnosticadas , Estudos de Associação Genética , Predisposição Genética para Doença , Humanos , Disseminação de Informação/métodos , Doenças Raras/diagnóstico , Doenças Raras/genética , SoftwareRESUMO
Symptoms of vestibular dysfunction such as dizziness and vertigo are common after sports-related concussions (SRC) and associated with a worse outcome and a prolonged recovery. Vestibular dysfunction after SRC can be because of an impairment of the peripheral or central neural parts of the vestibular system. The aim of the present study was to establish the cause of vestibular impairment in athletes with SRC who have persisting post-concussive symptoms (PPCS). We recruited 42 participants-21 athletes with previous SRCs and PPCS ≥6 months and 21 healthy athletic age- and sex-matched controls-who underwent symptom rating, a detailed test battery of vestibular function and 7T magnetic resonance imaging with diffusion tensor imaging (DTI) and diffusion kurtosis imaging (DKI) of cerebellar white matter tracts, and T1-weighted imaging for cerebellar volumetrics. Vestibular dysfunction was observed in 13 SRC athletes and three controls (p = 0.001). Athletes with vestibular dysfunction reported more pronounced symptoms on the Dizziness Handicap Inventory (DHI; p < 0.001) and the Hospital Anxiety and Depression Scale (HADS; p < 0.001). No significant differences in DTI metrics were found, while in DKI two metrics were observed in the superior and/or inferior cerebellar tracts. Cerebellar gray and white matter volumes were similar in athletes with SRC and controls. Compared with controls, pathological video head impulse test results (vHIT; p < 0.001) and cervical vestibular evoked myogenic potentials (cVEMP; p = 0.002) were observed in athletes with SRC, indicating peripheral vestibular dysfunction and specifically suggesting injury to the inferior vestibular nerve. In athletes with persisting symptoms after SRC, vestibular dysfunction is associated with injury to the inferior vestibular nerve.
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Este artículo describe los criterios diagnósticos de presbivestíbulopatía (PVP) del Comité de Clasificación de la Sociedad Bárány. Se define la PVP como un síndrome vestibular crónico, caracterizado por inestabilidad, alteración de la marcha, y/o caídas recurrentes en presencia de déficits vestibulares bilaterales leves, con hallazgos en las pruebas de función vestibular situados entre la normalidad y los límites establecidos para la vestibulopatía bilateral. El diagnóstico de PVP se basa en la anamnesis, la exploración clínica y la evaluación mediante pruebas de función vestibular. El diagnóstico de PVP requiere una reducción bilateral de la función del reflejo vestíbulo-ocular (RVO). Esta puede ser diagnosticada mediante el video-HIT (vHIT) para el rango de frecuencias altas del RVO; para el rango de frecuencias medias con la prueba de la silla rotatoria; y para el rango de bajas frecuencias mediante la prueba calórica. Para el diagnóstico de PVP, la ganancia de RVO angular horizontal debe ser en ambos lados < 0,8 y > 0,6, y/o la suma de las velocidades pico máximas de fase lenta del nistagmo calórico, tras estimulación con agua caliente y fría en cada lado, que debe estar entre < 25°/s y > 6°/s y/o la ganancia del RVO angular horizontal debe estar entre > 0,1 y < 0,3 con la estimulación sinusoidal en silla rotatoria. La PVP habitualmente ocurre junto con otros déficits relacionados con la edad que afectan a la visión, propiocepción, y/o de las funciones corticales, cerebelosas y extrapiramidales que también contribuyen y que podrían incluso ser necesarias para la manifestación de los síntomas de inestabilidad, alteración de la marcha y caídas. Estos criterios consideran simplemente la presencia de estos síntomas en adultos mayores, junto con el deterioro documentado de la función vestibular. (AU)
This paper describes the diagnostic criteria for presbyvestibulopathy (PVP) of the Classification Committee of the Bárány Society. PVP is defined as a chronic vestibular syndrome characterized by unsteadiness, gait disturbance, and/or recurrent falls in the presence of mild bilateral vestibular deficits, with findings on laboratory tests that are between normal values and the thresholds established for bilateral vestibulopathy. The diagnosis of PVP is based on patient history, bedside examination, and laboratory evaluation. The diagnosis of PVP requires bilaterally reduced function of the vestibulo-ocular reflex (VOR). This can be diagnosed for the high frequency range of the VOR with video-HIT (vHIT), for the middle frequency range with rotary chair testing, and for the low frequency range with caloric testing. For the diagnosis of PVP, the horizontal angular VOR gain on both sides should be < .8 and > .6, and/or the sum of the maximal peak velocities of the slow phase caloric-induced nystagmus for stimulation with warm and cold water on each side should be < 25°/s and > 6°/s, and/or the horizontal angular VOR gain should be > .1 and < .3 upon sinusoidal stimulation on a rotatory chair. PVP typically occurs along with other age-related deficits of vision, proprioception, and/or cortical, cerebellar, and extrapyramidal function which also contribute to and might even be required for symptoms of unsteadiness, gait disturbance, and falls to manifest. These criteria simply consider the presence of these symptoms, along with documented impairment of vestibular function, in older adults. (AU)
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Humanos , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Idoso , Idoso de 80 Anos ou mais , Ciências da Saúde , Técnicas e Procedimentos Diagnósticos , Vestibulopatia Bilateral , EnvelhecimentoRESUMO
BACKGROUND: Motion tracking during live surgeries may be used to assess surgeons' intra-operative performance, provide feedback, and predict outcome. Current assessment protocols rely on human observations, controlled laboratory settings, or tracking technologies not suitable for live operating theatres. In this study, a novel method for motion tracking of live open-heart surgery was developed, and evaluated. MATERIALS AND METHODS: Three-D-printed 'tracking die' with miniature markers were fitted to DeBakey forceps. The surgical field was recorded with a video camera mounted above the operating table. Software was developed for tracking the die from the recordings. The system was tested on five open-heart procedures. Surgeons were asked to report subjective system related concerns during live surgery and assess the weight of the die on blind test. The accuracy of the system was evaluated against ground truth generated by a robot. RESULTS: The 3D-printed die weighed 6 g and tolerated sterilization with hydrogen peroxide, which added approximately 13% to the mass of the forceps. Surgeons sensed a shift in the balance of the instrument but could on blind test not correctly verify changes in weight. When two or more markers were detected, the 3D position estimate was on average within 2-3 mm, and 1.1-2.6 degrees from ground truth. Computational time was 30-50 ms per frame on a standard laptop. CONCLUSIONS: The vision-based motion tracking system was applicable for live surgeries with negligible inconvenience to the surgeons. Motion data was extracted with acceptable accuracy and speed at low computational cost.
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Procedimentos Cirúrgicos Cardíacos , Humanos , Movimento (Física)RESUMO
BACKGROUND: The mechanisms of association between diabetes and inner ear dysfunction are unknown, although endolymphatic hydrops may be involved. We have previously shown that insulin signaling components are expressed in human saccule and that insulin signaling takes place in HEI-OC1 auditory cells. AIM: To explore Nedd4-2 as a target for insulin signaling. MATERIALS AND METHODS: Effects of insulin were analyzed using western blot and confocal microscopy in HEI-OC1 auditory cells. RESULTS: Insulin induced phosphorylation of Nedd4-2 and increased the amount of ENaC at the plasma membrane. Also, protein kinase B (PKB) and NDRG1, a substrate for SGK1 (serum and glucocorticoid stimulated kinase), were phosphorylated in response to insulin. The SGK1 inhibitor GSK650394 prevented insulin-induced phosphorylation of NRDG1, but not of PKB and Nedd4-2, whereas the phosphatidylinositol 3-kinase (PI3K) inhibitor wortmannin and the PKB inhibitor MK2206 inhibited phosphorylation of all components. Ceramides prevented insulin-induced phosphorylation of PKB and NDRG1, but not of Nedd4-2. The ceramide metabolite sphingosine 1-phosphate induced phosphorylation of Nedd4-2. CONCLUSIONS: Insulin induces phosphorylation of Nedd4-2, most likely involving PI3K/PKB signaling. Sphingosine 1-phosphate might protect Nedd4-2 against ceramide-induced insulin resistance. SIGNIFICANCE: Insulin-mediated regulation of Nedd4-2 might impact on inner ear sodium homeostasis with implications for diabetes-induced inner ear damage.
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Proteínas Quinases Dependentes de AMP Cíclico/metabolismo , Canais Epiteliais de Sódio/metabolismo , Insulina/farmacologia , Fosfatidilinositol 3-Quinases/metabolismo , Proteínas Proto-Oncogênicas c-akt/metabolismo , Proteínas Repressoras/metabolismo , Receptores de Esfingosina-1-Fosfato/metabolismo , Animais , Linhagem Celular , Ceramidas/farmacologia , Orelha Interna/citologia , FosforilaçãoRESUMO
Parkinson's disease (PD) is characterized by rigidity, akinesia, postural instability and tremor. Deep brain stimulation (DBS) of the subthalamic nucleus (STN) reduces tremor but the effects on postural instability are inconsistent. Another component of postural control is the postural strategy, traditionally referred to as the ankle or hip strategy, which is determined by the coupling between the joint motions of the body. We aimed to determine whether DBS STN and vision (eyes open vs. eyes closed) affect the postural strategy in PD in quiet stance or during balance perturbations. Linear motion was recorded from the knee, hip, shoulder and head in 10 patients with idiopathic PD with DBS STN (after withdrawal of other anti-PD medication), 25 younger adult controls and 17 older adult controls. Correlation analyses were performed on anterior-posterior linear motion data to determine the coupling between the four positions measured. All participants were asked to stand for a 30 s period of quiet stance and a 200 s period of calf vibration. The 200 s vibration period was subdivided into four 50 s periods to study adaptation between the first vibration period (30-80 s) and the last vibration period (180-230 s). Movement was recorded in patients with PD with DBS ON and DBS OFF, and all participants were investigated with eyes closed and eyes open. DBS settings were randomized and double-blindly programmed. Patients with PD had greater coupling of the body compared to old and young controls during balance perturbations (p ≤ 0.046). Controls adopted a strategy with greater flexibility, particularly using the knee as a point of pivot, whereas patients with PD adopted an ankle strategy, i.e., they used the ankle as the point of pivot. There was higher flexibility in patients with PD with DBS ON and eyes open compared to DBS OFF and eyes closed (p ≤ 0.011). During balance perturbations, controls quickly adopted a new strategy that they retained throughout the test, but patients with PD were slower to adapt. Patients with PD further increased the coupling between segmental movement during balance perturbations with DBS ON but retained a high level of coupling with DBS OFF throughout balance perturbations. The ankle strategy during balance perturbations in patients with PD was most evident with DBS OFF and eyes closed. The increased coupling with balance perturbations implies a mechanism to reduce complexity at a cost of exerting more energy. Strategic alterations of posture were altered by DBS in patients with PD and were delayed. Our findings therefore show that DBS does not fully compensate for disease-related effects on posture.
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Estimulação Encefálica Profunda , Doença de Parkinson/fisiopatologia , Doença de Parkinson/terapia , Equilíbrio Postural/fisiologia , Adaptação Fisiológica , Adulto , Idoso , Articulação do Tornozelo/fisiopatologia , Estudos de Casos e Controles , Sinais (Psicologia) , Método Duplo-Cego , Feminino , Humanos , Articulação do Joelho/fisiopatologia , Masculino , Pessoa de Meia-Idade , Movimento/fisiologia , Postura/fisiologia , Vibração/efeitos adversos , Visão Ocular/fisiologia , Adulto JovemRESUMO
Parkinson's disease (PD) can produce postural abnormalities of the standing body position such as kyphosis. We investigated the effects of PD, deep brain stimulation (DBS) in the subthalamic nucleus (STN), vision and adaptation on body position in a well-defined group of patients with PD in quiet standing and during balance perturbations. Ten patients with PD and 25 young and 17 old control participants were recruited. Body position was measured with 3D motion tracking of the ankle, knee, hip, shoulder and head. By taking the ankle as reference, we mapped the position of the joints during quiet standing and balance perturbations through repeated calf muscle vibration. We did this to explore the effect of PD, DBS in the STN, and vision on the motor learning process of adaptation in response to the repeated stimulus. We found that patients with PD adopt a different body position with DBS ON vs. DBS OFF, to young and old controls, and with eyes open vs. eyes closed. There was an altered body position in PD with greater flexion of the head, shoulder and knee (p≤0.042) and a posterior position of the hip with DBS OFF (p≤0.014). With DBS ON, body position was brought more in line with the position taken by control participants but there was still evidence of greater flexion at the head, shoulder and knee. The amplitude of movement during the vibration period decreased in controls at all measured sites with eyes open and closed (except at the head in old controls with eyes open) showing adaptation which contrasted the weaker adaptive responses in patients with PD. Our findings suggest that alterations of posture and greater forward leaning with repeated calf vibration, are independent from reduced movement amplitude changes. DBS in the STN can significantly improve body position in PD although the effects are not completely reversed. Patients with PD maintain adaptive capabilities by leaning further forward and reducing movement amplitude despite their kyphotic posture.
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Adaptação Fisiológica , Estimulação Encefálica Profunda/métodos , Cifose/terapia , Doença de Parkinson/terapia , Equilíbrio Postural/fisiologia , Idoso , Articulação do Tornozelo/fisiologia , Estudos de Casos e Controles , Feminino , Globo Pálido/fisiopatologia , Cabeça/fisiologia , Articulação do Quadril/fisiologia , Humanos , Articulação do Joelho/fisiologia , Cifose/etiologia , Cifose/fisiopatologia , Masculino , Pessoa de Meia-Idade , Movimento/fisiologia , Doença de Parkinson/complicações , Doença de Parkinson/fisiopatologia , Postura/fisiologia , Articulação do Ombro/fisiologia , Núcleo Subtalâmico/fisiopatologiaRESUMO
Background: Functional head impulse test (fHIT) tests the ability of the vestibulo-ocular reflex (VOR) to allow visual perception during head movements. Our previous study showed that active head movements to the side with a vestibular lesion generated a dynamic visual performance that were as good as during movements to the intact side. Objective: To examine the differences in eye position during the head impulse test when performed with active and passive head movements, in order to better understand the role of the different saccade properties in improving visual performance. Method: We recruited 8 subjects with complete unilateral vestibular loss (4 men and 4 women, mean age 47 years) and tested them with video Head Impulse Test (vHIT) and Functional Head Impulse Test (fHIT) during passive and active movements while looking at a target. We assessed the mean absolute position error of the eye during different time frames of the head movement, the peak latency and the peak velocity of the first saccade, as well as the visual performance during the head movement. Results: Active head impulses to the lesioned side generated dynamic visual performances that were as good as when testing the intact side. Active head impulses resulted in smaller position errors during the visual perception task (p = 0.006) compared to passive head-impulses and the position error during the visual perception time frame correlated with shorter latencies of the first saccade (p < 0.001). Conclusion: Actively generated head impulses toward the side with a complete vestibular loss resulted in a position error within or close to the margin necessary to obtain visual perception for a brief period of time in patients with chronic unilateral vestibular loss. This seems to be attributed to the appearance of short-latency covert saccades, which position the eyes in a more favorable position during head movements.
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Background: Ménière's disease (MD) is a chronic peripheral vestibular disorder with recurrent episodes of vertigo accompanied by fluctuating hearing loss, tinnitus and aural fullness in the affected ear. There are several unanswered fundamental questions regarding MD, one of these being cortical activity during a MD attack. However, it is not possible to plan an investigation in an episodic disease as MD. Objective: To visualize cortical activity during an attack of MD. Method: 18F-FDG PET scans were used to visualize cortical activity in a 62 years old male suffering from definite MD. Two 18F-FDG PET scans were performed. One to show activity during the attack and one to show normal baseline brain activity 7 days after the attack. Results: A number of low-magnitude fluctuations in the 18F-FDG FDG uptake were found in 18F-FDG PET examination following the MD attack compared to the patient's own baseline 18F-FDG FDG scan. Across both hemispheres no significant changes were seen. However, reduced activity was observed in most of the orbitofrontal, frontal cortices as well as Heschl's gyrus and insula. Conclusion: This is the first neuroimaging showing alteration of brain activity during an attack in a patient with MD. No strong focal alterations was seen. It is noteworthy that the decreased activity observed was in the insula and Heschl's gyrus that seems to be core areas for processing information from the labyrinth. It is also of interest that decreased activity rather than hyperactivity was observed.
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Objective: The use of goggles to assess vertical semicircular canal function has become a standard method in vestibular testing, both in clinic and in research, but there are different methods and apparatus in use. The aim of this study was to determine what the cause of the systematic differences is between gain values in testing of the vertical semicircular canals with two different video head impulse test (vHIT) equipment in subjects with normal vestibular function. Study Design: Retrospective analysis of gain values on patients with clinically deemed normal vestibular function (absence of a corrective eye saccade), tested with either Interacoustics or Otometrics system. Prospective testing of subjects with normal vestibular function with the camera records the eye movements of both eyes. Finally, 3D sensors were placed on different positions on the goggles measuring the actual vertical movement in the different semicircular planes. Results: In the clinical cohorts, the gain depended on which side and semicircular canal was tested (p < 0.001). In the prospective design, the combination between the stimulated side, semicircular canal, and position of the recording device (right/left eye) highly influenced the derived gain (p < 0.001). The different parts of the goggles also moved differently in a vertical direction during vertical semicircular canal testing. Conclusion: The gain values when testing the function of the vertical semicircular canals seem to depend upon which eye is recorded and which semicircular plane is tested and suggests caution when interpreting and comparing results when different systems are used both clinically as well as in research. The results also imply that further research and development are needed to obtain accurate vertical semicircular canal testing, in regard to both methodology and equipment design.
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Stereo 3D video from surgical procedures can be highly valuable for medical education and improve clinical communication. But access to the operating room and the surgical field is restricted. It is a sterile environment, and the physical space is crowded with surgical staff and technical equipment. In this setting, unobscured capture and realistic reproduction of the surgical procedures are difficult. This paper presents a method for rapid and reliable data collection of stereoscopic 3D videos at different camera baseline distances and distances of convergence. To collect test data with minimum interference during surgery, with high precision and repeatability, the cameras were attached to each hand of a dual-arm robot. The robot was ceiling-mounted in the operating room. It was programmed to perform a timed sequence of synchronized camera movements stepping through a range of test positions with baseline distance between 50-240 mm at incremental steps of 10 mm, and at two convergence distances of 1100 mm and 1400 mm. Surgery was paused to allow 40 consecutive 5-s video samples. A total of 10 surgical scenarios were recorded.
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Procedimentos Cirúrgicos Cardíacos , Imageamento Tridimensional , HumanosRESUMO
Gait disorders are a relevant factor for falls and possible to measure with wearable devices. If a wearable sensor can detect differences in gait parameters between fallers and non-fallers has not yet been studied. The aim of this study was to measure and compare gait parameters, vestibular function, and balance performance between fallers and non-fallers among a group of older persons. Participants were senior members (n = 101) of a Swedish non-profit gymnastic association. Gait parameters were obtained using an inertial measurement unit (IMU) that the participants wore on the leg while walking an obstacle course and on an even surface. Vestibular function was assessed by the Head-shake test, the Head impulse test, and the Dix-Hallpike maneuver. Balance was assessed by the Timed Up and Go, the Timed Up and Go manual, and the Timed Up and Go cognitive tests. Falls during the 12-month follow-up period were monitored using fall diaries. Forty-two persons (41%) had fallen during the 12-month follow-up. Fallers had more limited ability to vary their gait (gait flexibility) than non-fallers (p < 0.001). No other differences between fallers and non-fallers were found. The use of gait flexibility, captured by an IMU, seems better for identifying future fallers among healthy older persons than Timed Up and Go or Timed Up and Go combined with a cognitive or manual task.
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Marcha , Equilíbrio Postural , Acidentes por Quedas , Idoso , Idoso de 80 Anos ou mais , Humanos , Estudos Longitudinais , CaminhadaRESUMO
Skeletal ciliopathies are a heterogenous group of disorders with overlapping clinical and radiographic features including bone dysplasia and internal abnormalities. To date, pathogenic variants in at least 30 genes, coding for different structural cilia proteins, are reported to cause skeletal ciliopathies. Here, we summarize genetic and phenotypic features of 34 affected individuals from 29 families with skeletal ciliopathies. Molecular diagnostic testing was performed using massively parallel sequencing (MPS) in combination with copy number variant (CNV) analyses and in silico filtering for variants in known skeletal ciliopathy genes. We identified biallelic disease-causing variants in seven genes: DYNC2H1, KIAA0753, WDR19, C2CD3, TTC21B, EVC, and EVC2. Four variants located in non-canonical splice sites of DYNC2H1, EVC, and KIAA0753 led to aberrant splicing that was shown by sequencing of cDNA. Furthermore, CNV analyses showed an intragenic deletion of DYNC2H1 in one individual and a 6.7 Mb de novo deletion on chromosome 1q24q25 in another. In five unsolved cases, MPS was performed in family setting. In one proband we identified a de novo variant in PRKACA and in another we found a homozygous intragenic deletion of IFT74, removing the first coding exon and leading to expression of a shorter message predicted to result in loss of 40 amino acids at the N-terminus. These findings establish IFT74 as a new skeletal ciliopathy gene. In conclusion, combined single nucleotide variant, CNV and cDNA analyses lead to a high yield of genetic diagnoses (90%) in a cohort of patients with skeletal ciliopathies.