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1.
Int J Mol Sci ; 24(18)2023 Sep 11.
Artigo em Inglês | MEDLINE | ID: mdl-37762265

RESUMO

Ichthyoses are genetically determined cornification disorders of the epidermis characterized by the presence of different degrees of scaling, hyperkeratosis, and erythroderma often associated with palmoplantar keratoderma. Different classifications of these diseases have been proposed, often based upon the involved genes and/or the clinical presentation. The clinical features of these diseases present some overlap of phenotypes among distinct genetic entities, depending mainly on the penetrance of mutations. In this study, using a clinical, genetic, and molecular approach, we analyzed a family with two affected members who had clinical and histological features resembling erythrokeratodermia variabilis (EKV) or a type of erythrodermic hyperkeratosis with palmoplantar keratoderma. Despite of the clinical presentation, we demonstrated that the affected patients were genetically double heterozygous for two different mutations in the ABCA12 gene, known to be responsible for harlequin ichthyosis. To explain the mild phenotype of our patients, we performed a molecular characterization of the skin. In the upper layers of the epidermis, the results showed a patchy presence of the glucosyl-ceramides (GlcCer), which is the lipid transported by ABCA12, fundamental in contributing to skin impermeability. Indeed, the two mutations detected do not completely abolish ABCA12 activity, indicating that the mild phenotype is due to a partial loss of function of the enzyme, thus giving rise to an intermediate phenotype resembling EKVP, due to a partial depletion of GlcCer deposition.


Assuntos
Eritroceratodermia Variável , Ictiose Lamelar , Ictiose , Ceratodermia Palmar e Plantar , Humanos , Eritroceratodermia Variável/genética , Ictiose Lamelar/genética , Ictiose/genética , Mutação , Glucosilceramidas , Transportadores de Cassetes de Ligação de ATP/genética
2.
Artigo em Inglês | MEDLINE | ID: mdl-34294219

RESUMO

OBJECTIVE: The aim of this study is to evaluate the effectiveness of anterior and posterior dacryorhinocystostomy (En-Dcr) by assessing the surgical outcome with a new objective technique, nose sinus manometry. MATERIALS AND METHODS: Thirty adult patients presenting nasolacrimal duct obstruction were enrolled in this study and randomly divided in two groups. In group A patients underwent anterior endonasal dacryorhinocystostomy, group B underwent the posterior approach. All patients were evaluated through Nose Sinus Manometry, endoscopic dye disappearance functional test (EDFT) and subjective assessment three months post-op. Pearson test and T-student Test were used for evaluations. RESULTS: The mean differences in the pressure values were significantly different in the two groups of treatment, therefore, the patients of group B had strong improvement in pressure values compared with patients of group A. CONCLUSION: This study confirms a relevant physical distinction between posterior En-Dcr outcomes compared to anterior En-Dcr and reveals a significant success rate difference between the two groups of patients. The posterior surgical technique shows better results than the anterior one, by providing an almost physiological post- operative endonasal outcome. These results also showed the effectiveness of Nose Sinus Manometry in assessing the post- operative outcomes after En-Dcr.


Assuntos
Dacriocistorinostomia , Obstrução dos Ductos Lacrimais , Ducto Nasolacrimal , Adulto , Endoscopia , Humanos , Manometria
3.
Acta otorrinolaringol. esp ; 72(4): 212-217, julio 2021. tab, graf, ilus
Artigo em Inglês | IBECS | ID: ibc-207266

RESUMO

Objective: The aim of this study is to evaluate the effectiveness of anterior and posterior dacryorhinocystostomy (En-Dcr) by assessing the surgical outcome with a new objective technique, nose sinus manometry.Materials and methodsThirty adult patients presenting nasolacrimal duct obstruction were enrolled in this study and randomly divided in two groups. In group A patients underwent anterior endonasal dacryorhinocystostomy, group B underwent the posterior approach. All patients were evaluated through Nose Sinus Manometry, endoscopic dye disappearance functional test (EDFT) and subjective assessment three months post-op. Pearson test and T-student Test were used for evaluations.ResultsThe mean differences in the pressure values were significantly different in the two groups of treatment, therefore, the patients of group B had strong improvement in pressure values compared with patients of group A.ConclusionThis study confirms a relevant physical distinction between posterior En-Dcr outcomes compared to anterior En-Dcr and reveals a significant success rate difference between the two groups of patients. The posterior surgical technique shows better results than the anterior one, by providing an almost physiological post- operative endonasal outcome. These results also showed the effectiveness of Nose Sinus Manometry in assessing the post- operative outcomes after En-Dcr. (AU)


Antecedentes y objetivo: El objetivo de este estudio es evaluar la efectividad de la dacriocistorrinostomía anterior y posterior (En-Dcr) mediante la evaluación del resultado quirúrgico con una nueva técnica objetiva, la manometría del seno nasal.Materiales y métodosTreinta pacientes adultos que presentaban obstrucción del conducto nasolagrimal se inscribieron en este estudio y se dividieron al azar en dos grupos. En el grupo A, los pacientes se sometieron a dacriocistorrinostomía endonasal anterior, en el grupo B se sometió al abordaje posterior. Todos los pacientes fueron evaluados mediante manometría de seno nasal, prueba EDFT y evaluación subjetiva tres meses después de la operación. Análisis estadístico utilizado: la prueba de Pearson y la prueba t Student se utilizaron para las evaluaciones.ResultadosLas diferencias medias en los valores de presión fueron significativamente diferentes en los dos grupos de tratamiento, por lo tanto, los pacientes del grupo B tienen una fuerte mejora en los valores de presión en comparación con los pacientes del grupo A.ConclusionesEste estudio confirma una distinción física relevante entre los resultados posteriores de En-Dcr, en comparación con los anteriores En-Dcr, y revela una diferencia significativa en la tasa de éxito entre los dos grupos de pacientes. La técnica quirúrgica posterior muestra mejores resultados que la anterior, al proporcionar un resultado endonasal postoperatorio casi fisiológico. Estos resultados también mostraron la efectividad de la manometría de seno nasal para evaluar los resultados postoperatorios después de En-Dcr. (AU)


Assuntos
Humanos , Dacriocistorinostomia , Endoscopia , Obstrução dos Ductos Lacrimais , Manometria , Ducto Nasolacrimal , Pacientes
4.
Otol Neurotol ; 42(1): 18-23, 2021 01.
Artigo em Inglês | MEDLINE | ID: mdl-32976345

RESUMO

INTRODUCTION: Facioscapulohumeral muscular dystrophy type 1 (FSHD) represents one of the most common forms of muscular hereditary diseases and it is characterized by a great clinical variability with the typical muscular symptoms and other clinical features, including hearing impairment. However, etiopathogenetic mechanisms of auditory dysfunction are still not completely understood and it has been suggested that it could be assigned to a cochlear alteration that is present even in those subjects with a normal pure tonal audiometry (PTA) examination. METHODS: We found out the cochlear function in 26 patients with molecular diagnosis of FSHD1 and in healthy controls. All patients underwent complete neurological and audiological examinations, including FSHD clinical score, pure-tone audiometry (PTA), and otoacoustic emissions (OAEs), in particular transient evoked otoacoustic emissions (TEOAEs) and distortion product evoked otoacoustic emissions (DPOAEs). RESULTS: All FSHD1 patients showed significantly reduced DPOAEs and TEOAEs, bilaterally and at all frequencies, even when considering only subjects with a normal PTA or a mild muscular involvement (FSHD score ≤ 2). No correlation between OAEs and FSHD clinical score was found. DISCUSSION: Cochlear echoes represent a sensitive tool in detecting subclinical cochlear dysfunction in FSHD1 even in subjects with normal hearing and/or subtle muscle involvement. Our study is focused on the importance of evaluating the cochlear alteration through OAEs and, in particular, by performing TEOAEs and DPOAEs sequentially, to evaluate more frequent specificities of cochlear dysfunction with a wider spectrum of analysis.


Assuntos
Perda Auditiva , Distrofia Muscular Facioescapuloumeral , Audiometria de Tons Puros , Limiar Auditivo , Cóclea , Humanos , Distrofia Muscular Facioescapuloumeral/complicações , Distrofia Muscular Facioescapuloumeral/diagnóstico , Distrofia Muscular Facioescapuloumeral/genética , Emissões Otoacústicas Espontâneas
5.
J Occup Environ Med ; 63(2): e92-e97, 2021 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-33298756

RESUMO

OBJECTIVE: Assessment of the nasal cytology in revealing early nasal mucosa alteration of workers exposed to benzene. METHODS: Nasal cytology was compared among non-exposed and exposed workers to benzene. A comparison of the two groups was performed considering rhino-cytological features. RESULTS: In the exposed group neutrophils count range was 14 to 70, compared to 2 to 5 in control group. Ciliated cells ratio range was respectively 0.28 to 2.8 and 0.25 to 0.31. In subjects exposed to benzene >10 years, nasal mucosa showed an inflammatory status and an ongoing mucipar metaplasia, defined by an alteration of mucipar/ciliated cells ratio. CONCLUSIONS: Nasal cytology may be a useful research tool for the health surveillance of workers exposed to benzene and may be applied to study the effects of other upper airways chemicals irritants.


Assuntos
Benzeno , Militares , Benzeno/toxicidade , Humanos , Programas de Rastreamento , Mucosa Nasal , Neutrófilos
6.
In. Manzanares Castro, William; Aramendi Epstein, Ignacio; Pico, José Luis do. Disionías en el paciente grave: historias clínicas comentadas. Montevideo, Cuadrado, 2021. p.185-207, tab.
Monografia em Espanhol | LILACS, UY-BNMED, BNUY | ID: biblio-1344737
7.
Biomed Res Int ; 2019: 4762404, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31355263

RESUMO

Positron emission tomography (PET) with 2-[18F]-fluorodeoxyglucose (FDG) has been widely used for the evaluation of cortical glucose metabolism in several neurodegenerative disorders while its potential role in the evaluation of cortical and subcortical activity during a task in the healthy and pathological brain still remains to be a matter of debate. Few studies have been carried out in order to investigate the potential role of this radiotracer for the evaluation of brain glucose consumption during dynamic brain activation. The aim of this review is to provide a general overview of the applications of FDG-PET in the evaluation of cortical activation at rest and during tasks, describing first the physiological basis of FDG distribution in brain and its kinetic in vivo. An overview of the imaging protocols and image interpretation will be provided as well. As a last aspect, the results of the main studies in this field will be summarized and the results of PET findings performed in healthy subjects and patients suffering from various diseases will be reported.


Assuntos
Córtex Cerebral , Fluordesoxiglucose F18/uso terapêutico , Doenças Neurodegenerativas , Tomografia por Emissão de Pósitrons , Compostos Radiofarmacêuticos/uso terapêutico , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/metabolismo , Humanos , Doenças Neurodegenerativas/diagnóstico por imagem , Doenças Neurodegenerativas/metabolismo
8.
Eur Arch Otorhinolaryngol ; 275(10): 2457-2465, 2018 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-30159725

RESUMO

PURPOSE: Considering recent advances in central cognitive- and age-related processing interfering with balance and sensory reweighting in uncompensated vestibular disorders, purpose of this study is to highlight the vestibular rehabilitation (VR) outcomes in a population of older adults and age-matched mild cognitive impairment (MCI) patients, both affected by unilateral vestibular hypofunction (UVH) and undergoing VR. METHODS: Vestibulo-ocular reflex (VOR), postural sway examination (respectively, performed by video head impulse test and static posturography) and dizziness-related and quality-of-life scores were collected in 12 UVH MCI individuals ≥ 55 years and 12 matched UVH older adults with age-appropriate cognitive function-cognitively evaluated by means of Mini-Mental State Examination (MMSE) and Alzheimer's Disease Assessment Scale-before and after a VR protocol. RESULTS: A significant post-treatment reduction in surface, length and power spectra (PS) values within low-frequency domain and an improvement in performance measures were recorded in both groups. Moreover, the VR protocol highlighted-when comparing pre-/post-treatment differences (Δ)-a significant (i) increase in Δ VOR gain; (ii) decrease in Δ surface and length and (iii) increase in Δ PS within low-frequency domain in older adults when compared to MCI patients. Positive correlations were found between MMSE and Δ Dynamic Gait Index, Δ surface and Δ PS within low-frequency domain when treating patients as 'a continuum' along the cognitive decline. CONCLUSIONS: Present pilot findings suggest that the cognitive domain insight in older adults scheduled for VR protocols may positively impact on disability consequences.


Assuntos
Doenças Vestibulares/reabilitação , Idoso , Estudos de Casos e Controles , Disfunção Cognitiva/fisiopatologia , Feminino , Teste do Impulso da Cabeça , Humanos , Masculino , Modalidades de Fisioterapia , Reflexo Vestíbulo-Ocular/fisiologia , Doenças Vestibulares/fisiopatologia
9.
Noise Health ; 18(82): 143-9, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27157687

RESUMO

Multiple chemical sensitivity (MCS) is a chronic disorder characterized by a variety of symptoms associated with the exposure to chemicals at a concentration below the toxic level. Previous studies have demonstrated peculiar responses in brain activity in these patients with respect to sensory stimuli while the association between chemical sensitivity and other environmental intolerances such as noise sensitivity has been questioned by researchers. In this study, a cohort of 18 MCS patients underwent transient-evoked otoacoustic emission (TEOAE) testing with and without contralateral suppression to evaluate the functionality of the medial olivocochlear (MOC) reflex involved in speech-in-noise sensitivity. Results were compared with an age- and gender-matched control group (n = 20) and correlation analysis with disease onset and quick environmental exposure sensitivity inventory (qEESI) symptom severity scale was performed. Subjects affected by MCS showed statistically significant impairment of MOC reflex, and the onset of the disease and several symptom subscales showed to be correlated to such reduction in some of the frequencies tested. These data suggest that alterations of MOC reflex could be part of the complex features of this disease although more studies are needed to further explore auditory perception disorders in environmental intolerances.


Assuntos
Vias Auditivas/fisiologia , Percepção Auditiva/fisiologia , Potenciais Evocados Auditivos/fisiologia , Sensibilidade Química Múltipla/fisiopatologia , Adulto , Audiometria de Tons Puros , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade Química Múltipla/complicações , Emissões Otoacústicas Espontâneas/fisiologia , Reflexo Acústico/fisiologia
10.
J Vestib Res ; 26(5-6): 459-468, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28262643

RESUMO

Multiple chemical sensitivity (MCS) is a common clinical diagnosis in western populations and its symptoms are thought to be mainly related to chemical compounds exposure. Although MCS subjects refer to complain from many central nervous system symptoms, including dizziness, no study to now deepened vestibular detriment nor to what extent such an impairment could worsen MCS. Thus, the purpose of present study was to objectively highlight those clinical/subclinical aspects of vestibular impairment that could be related to MCS symptoms cohorts. A principal component analysis within a wide battery of otoneurological test scores was employed in 18 right-handed MCS patients and 20 sex- and age-matched healthy individuals. A deranged dimensionality in near-optimal re-weighting within otoneurological variables was found in MCS as compared with healthy subjects. These data seem to support the idea that MCS physiopathological underpinnings could lead to a peripheral and higher vestibular decay that could be addressed as a further aspect to better follow MCS patients up along natural history of disease in clinical practice.


Assuntos
Sensibilidade Química Múltipla/complicações , Doenças Vestibulares/etiologia , Adulto , Estudos de Coortes , Tontura/etiologia , Feminino , Análise de Fourier , Teste do Impulso da Cabeça , Humanos , Masculino , Pessoa de Meia-Idade , Sensibilidade Química Múltipla/diagnóstico , Sensibilidade Química Múltipla/fisiopatologia , Exame Neurológico , Análise de Componente Principal , Vertigem/etiologia , Doenças Vestibulares/diagnóstico , Doenças Vestibulares/fisiopatologia , Testes de Função Vestibular
11.
Brain Topogr ; 29(2): 243-52, 2016 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-26438099

RESUMO

Multiple chemical sensitivity (MCS) patients usually react to odour compounds and the majority of neuroimaging studies assessed, especially at the cortical level, many olfactory-related correlates. The purpose of the present study was to depict sub-cortical metabolic changes during a neutral (NC) and pure (OC) olfactory stimulation by using a recently validated (18)F-2-fluoro-2-deoxy-D-glucose (FDG)-positron emission tomography/computer tomography procedure in 26 MCS and 11 healthy (HC) resting subjects undergoing a battery of clinical tests. Twelve subcortical volumes of interest were identified by the automated anatomical labeling library and normalized to thalamus FDG uptake. In both groups, when comparing OC to NC, the within-subjects ANOVA demonstrated a relative decreased metabolism in bilateral putamen and hippocampus and a relative increased metabolism in bilateral amygdala, olfactory cortex (OLF), caudate and pallidum. The between-groups ANOVA demonstrated in MCS a significant higher metabolism in bilateral OLF during NC. As in HC subjects negative correlations were found in OC between FDG uptake in bilateral amygdala and hippocampus and odor pleasantness scale, the latter positively correlated with MCS subjects' bilateral putamen FDG uptake in OC. Besides FDG uptake resemblances in both groups were found, for the first time a relative higher metabolism increase in OLF in MCS subjects at rest with respect to HC was found. When merging this aspect to the different subcortical FDG uptake correlations patterns in the two groups, the present study demonstrated to describe a peculiar metabolic index of behavioral and neurological aspects of MCS complaints.


Assuntos
Mapeamento Encefálico , Encéfalo/fisiopatologia , Sensibilidade Química Múltipla/patologia , Sensibilidade Química Múltipla/fisiopatologia , Condutos Olfatórios/fisiopatologia , Olfato/fisiologia , Adulto , Análise de Variância , Encéfalo/diagnóstico por imagem , Feminino , Fluordesoxiglucose F18/farmacocinética , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade , Condutos Olfatórios/patologia , Tomografia por Emissão de Pósitrons , Caracteres Sexuais , Estatística como Assunto , Inquéritos e Questionários , Tomografia Computadorizada por Raios X
12.
Aging (Albany NY) ; 7(11): 928-36, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26554466

RESUMO

OTX proteins, homologs of the Drosophila orthodenticle (Otd), are important for the morphogenesis of the neuroectoderm, and for the central nervous system formation. OTX1 and OTX2 are important for the cochlea and macula development, indeed when OTX1 is knocked down, these organs undergo developmental failure. Moreover OTX2 transfection revert this effect in OTX1(-/-) mice. The TA isoform of TP63, involved in Notch regulation pathway, has a critical function in the cochlear neuroepithelium differentiation. TAp63 positively regulates Hes5 and Atoh1 transcription. This pathway has been also demonstrated in p63(-/-) mice, and in patients p63 mutated, affected by Ectodermal Dysplasia (ED, OMIM 129810). These patients are affected by mild sensorineural deafness, most likely related to the mutation in p63 gene impairing the Notch pathway. We demonstrated the role of OTX2 on TAp63 regulation necessary for the correct formation of macular neuroepithelium and we confirmed the impairment of vestibular function caused by p63 mutations. Although the abnormalities found in our patient were still at a subclinical extent, aging could exacerbate this impairment and cause a decrease in quality of life.


Assuntos
Cóclea/embriologia , Regulação da Expressão Gênica no Desenvolvimento , Macula Lutea/embriologia , Fatores de Transcrição Otx/fisiologia , Fatores de Transcrição/genética , Proteínas Supressoras de Tumor/genética , Animais , Diferenciação Celular , Displasia Ectodérmica/metabolismo , Humanos , Camundongos , Fatores de Transcrição Otx/química , Vestíbulo do Labirinto/fisiologia
13.
Medicine (Baltimore) ; 93(19): e103, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25340494

RESUMO

The aim of this article is to investigate the cortical metabolic arrangements in olfactory processing by using F fluorodeoxyglucose (FDG) positron emission tomography/computed tomography.Twenty-six normosmic individuals (14 women and 12 men; mean age 46.7 ± 10 years) were exposed to a neutral olfactory condition (NC) and, after 1 month, to a pure olfactory condition (OC) in a relatively ecological environment, that is, outside the scanner. All the subjects were injected with 185-210 megabecquerel of F FDG during both stimulations. Statistical parametric mapping version 2 was used in order to assess differences between NC and OC.As a result, we found a significant higher glucose consumption during OC in the cuneus, lingual, and parahippocampal gyri, mainly in the left hemisphere. During NC, our results show a relative higher glucose metabolism in the left superior, inferior, middle, medial frontal, and orbital gyri as well as in the anterior cingulate cortex.The present investigation, performed with a widely available functional imaging clinical tool, may help to better understand the neural responses associated to olfactory processing in healthy individuals and in patients with olfactory disorders by acquiring data in an ecologic, noise-free, and resting condition in which possible cerebral activations related to unwanted attentional processes might be avoided.


Assuntos
Fluordesoxiglucose F18 , Condutos Olfatórios , Tomografia por Emissão de Pósitrons/métodos , Tomografia Computadorizada por Raios X/métodos , Adulto , Mapeamento Encefálico/métodos , Córtex Cerebral/diagnóstico por imagem , Córtex Cerebral/metabolismo , Feminino , Fluordesoxiglucose F18/farmacocinética , Humanos , Interpretação de Imagem Assistida por Computador/métodos , Masculino , Pessoa de Meia-Idade , Condutos Olfatórios/diagnóstico por imagem , Condutos Olfatórios/metabolismo , Compostos Radiofarmacêuticos/farmacocinética
14.
J Neurol ; 261(10): 1976-85, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25082627

RESUMO

Although vestibular neuritis (VN) cortical models are described in the literature, there is lack of knowledge regarding the exclusive cerebellar involvement. The aim of the present study was to analyze, by [18F] fluorodeoxyglucose-positron emission tomography (FDG-PET)/computer tomography, regional cerebellar FDG uptake in eight right-handed VN patients (five females; three males; mean age 48 ± 7 years) during the first few days (PET0) and after 1 month (PET1) since symptoms onset. At both phases, patients underwent otoneurological examination and filled in a battery of validated questionnaires. Twenty-six cerebellar volumes of interest (VOI) were identified by the automated anatomical labeling library and normalized to thalamus FDG-PET uptake. Mean intensity within VOIs was calculated in both phases and processed by within-subjects ANOVA. A significantly lower (p < 0.005) FDG uptake distribution was found in bilateral lobules III, VI and X and in vermis 1-2, 3, 6 and 10 at PET0 as compared to PET1 and a significant higher FDG uptake distribution was found in right crus I in the same comparison. Significant (p < 0.05) positive correlations were found between Anxiety and Bucket test scores, and normalized metabolism in right crus I (at PET0) and vermis 10 (at PET1), respectively. A negative correlation was found at PET0 between slow-phase velocity scores and normalized metabolism in right lobule X. These data show relevant changes in the pattern of cerebellar metabolism that might unravel additional central aspects of early and late VN associated to bilateral cortical responses to sensory conflict during the acute VN-related controversial inflow.


Assuntos
Cerebelo/diagnóstico por imagem , Neuronite Vestibular/diagnóstico , Adulto , Análise de Variância , Eletroculografia , Feminino , Fluordesoxiglucose F18 , Lateralidade Funcional , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico , Tomografia por Emissão de Pósitrons , Estatística como Assunto , Inquéritos e Questionários , Tomografia Computadorizada por Raios X , Neuronite Vestibular/diagnóstico por imagem
15.
Sci Rep ; 4: 5146, 2014 Jun 03.
Artigo em Inglês | MEDLINE | ID: mdl-24888510

RESUMO

A wide network of interconnected areas was previously found in neuroimaging studies involving normal as well as pathological subjects; however literature seems to suffer from a lack of investigation in glucose metabolism behaviour under olfactory condition. Thus, the present work describe for the first time a pure olfactory related brain response of metabolism by using (18)F-fluorodeoxyglucose-Positron Emission Tomography/Computer Tomography in eleven resting subjects undergoing a neutral and a pure olfactory condition. By contrasting these experimental phases, it was possible to depict a re-organization pattern of default mode network structures in a relatively ecological environment. Moreover, by correlating such pattern with a battery of validated olfactory and neuropsychological tests, our work allowed in showing peculiar correlation data that could cluster the subjects sample in a certain range of normality. We believe the present study could integrate the current knowledge in olfactory research and could be a start-up for future contributions.


Assuntos
Mapeamento Encefálico/métodos , Encéfalo/fisiologia , Glucose/metabolismo , Rede Nervosa/fisiologia , Percepção Olfatória/fisiologia , Feminino , Fluordesoxiglucose F18 , Humanos , Masculino , Pessoa de Meia-Idade , Imagem Multimodal/métodos , Tomografia por Emissão de Pósitrons/métodos , Compostos Radiofarmacêuticos , Valores de Referência , Reprodutibilidade dos Testes , Descanso/fisiologia , Sensibilidade e Especificidade , Estatística como Assunto , Tomografia Computadorizada por Raios X/métodos
16.
Eur Arch Otorhinolaryngol ; 270(10): 2769-74, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23818117

RESUMO

Benign paroxysmal positional vertigo (BPPV) is the most common cause of vertigo. Despite the great efficacy of canalith repositioning procedures (CRPs), BPPV may persist (PBPPV). The aim of the study was to evaluate whether a prolonged and self-assessed temporal bone vibration (TBV) could change the outcome of PBPPV after 12 months of repeated treatments, in order to avoid further invasive and/or drug therapies. This evaluation was also conducted with respect to the entire BPPV population treated with CRPs. Seventy-two patients affected by PBPPV were enrolled in the study: 51 and 21 of them suffering from posterior semicircular canal (PSC) and lateral semicircular canal (LSC), respectively. PBPPV patients underwent a twice-a-day self-assessed TBV, using a common low-intensity massaging cushion. Patients were re-tested 1 week later and they were considered free from disease as the results of the positioning tests continued to be negative after 1 month. 70.6 % of PSC PBPPV and 61.9 % of LSC PBPPV patients had positive and statistically significant (P < 0.01) outcomes not biased by "age" and "gender" variables. The recurrence rate of BPPV (RBPPV) was also studied in the BPPV and PBPPV groups after a 12/24-month follow-up and any statistically significant result was found in multiple regression analysis between nuisance variables and RBPPV patients previously treated by CRPs or TBV. The present study suggests that the self-assessed and prolonged TBV could be an alternative treatment in patients affected by PBPPV otherwise addressed to undergo more invasive procedures and pharmacological treatment that are not completely side effects free.


Assuntos
Osso Temporal , Vertigem/reabilitação , Vibração/uso terapêutico , Vertigem Posicional Paroxística Benigna , Estudos de Coortes , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Recidiva , Análise de Regressão , Resultado do Tratamento
17.
Proc Natl Acad Sci U S A ; 110(18): 7300-5, 2013 Apr 30.
Artigo em Inglês | MEDLINE | ID: mdl-23589895

RESUMO

The ectodermal dysplasias are a group of inherited autosomal dominant syndromes associated with heterozygous mutations in the Tumor Protein p63 (TRP63) gene. Here we show that, in addition to their epidermal pathology, a proportion of these patients have distinct levels of deafness. Accordingly, p63 null mouse embryos show marked cochlea abnormalities, and the transactivating isoform of p63 (TAp63) protein is normally found in the organ of Corti. TAp63 transactivates hairy and enhancer of split 5 (Hes5) and atonal homolog 1 (Atoh1), components of the Notch pathway, known to be involved in cochlear neuroepithelial development. Strikingly, p63 null mice show morphological defects of the organ of Corti, with supernumerary hair cells, as also reported for Hes5 null mice. This phenotype is related to loss of a differentiation property of TAp63 and not to loss of its proapoptotic function, because cochleas in mice lacking the critical Bcl-2 homology domain (BH-3) inducers of p53- and p63-mediated apoptosis--Puma, Noxa, or both--are normal. Collectively, these data demonstrate that TAp63, acting via the Notch pathway, is crucial for the development of the organ of Corti, providing a molecular explanation for the sensorineural deafness in ectodermal dysplasia patients with TRP63 mutations.


Assuntos
Cóclea/embriologia , Cóclea/patologia , Surdez/patologia , Perda Auditiva Neurossensorial/patologia , Fosfoproteínas/metabolismo , Receptores Notch/metabolismo , Transdução de Sinais , Transativadores/metabolismo , Animais , Proteínas Reguladoras de Apoptose/deficiência , Proteínas Reguladoras de Apoptose/metabolismo , Fatores de Transcrição Hélice-Alça-Hélice Básicos/metabolismo , Cóclea/metabolismo , Surdez/embriologia , Surdez/metabolismo , Displasia Ectodérmica/embriologia , Displasia Ectodérmica/genética , Displasia Ectodérmica/patologia , Perda Auditiva Neurossensorial/embriologia , Perda Auditiva Neurossensorial/metabolismo , Humanos , Camundongos , Camundongos Endogâmicos C57BL , Camundongos Knockout , Fosfoproteínas/deficiência , Regiões Promotoras Genéticas/genética , Isoformas de Proteínas/metabolismo , Proteínas Proto-Oncogênicas c-bcl-2/deficiência , Proteínas Proto-Oncogênicas c-bcl-2/metabolismo , Proteínas Repressoras/metabolismo , Transativadores/deficiência , Proteínas Supressoras de Tumor/deficiência , Proteínas Supressoras de Tumor/metabolismo
18.
PLoS One ; 8(3): e57596, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23505435

RESUMO

Functional brain activation studies described the presence of separate cortical areas responsible for central processing of peripheral vestibular information and reported their activation and interactions with other sensory modalities and the changes of this network associated to strategic peripheral or central vestibular lesions. It is already known that cortical changes induced by acute unilateral vestibular failure (UVF) are various and undergo variations over time, revealing different cortical involved areas at the onset and recovery from symptoms. The present study aimed at reporting the earliest change in cortical metabolic activity during a paradigmatic form of UVF such as vestibular neuritis (VN), that is, a purely peripheral lesion of the vestibular system, that offers the opportunity to study the cortical response to altered vestibular processing. This research reports [(18)F]fluorodeoxyglucose positron emission tomography brain scan data concerning the early cortical metabolic activity associated to symptoms onset in a group of eight patients suffering from VN. VN patients' cortical metabolic activity during the first two days from symptoms onset was compared to that recorded one month later and to a control healthy group. Beside the known cortical response in the sensorimotor network associated to vestibular deafferentation, we show for the first time the involvement of Entorhinal (BAs 28, 34) and Temporal (BA 38) cortices in early phases of symptomatology onset. We interpret these findings as the cortical counterparts of the attempt to reorient oneself in space counteracting the vertigo symptom (Bas 28, 34) and of the emotional response to the new pathologic condition (BA 38) respectively. These interpretations were further supported by changes in patients' subjective ratings in balance, anxiety, and depersonalization/derealization scores when tested at illness onset and one month later. The present findings contribute in expanding knowledge about early, fast-changing, and complex cortical responses to pathological vestibular unbalanced processing.


Assuntos
Fluordesoxiglucose F18 , Imageamento por Ressonância Magnética , Tomografia por Emissão de Pósitrons , Neuronite Vestibular/diagnóstico , Adulto , Feminino , Fluordesoxiglucose F18/metabolismo , Humanos , Masculino , Pessoa de Meia-Idade , Giro Para-Hipocampal/metabolismo , Giro Para-Hipocampal/patologia , Inquéritos e Questionários , Lobo Temporal/metabolismo , Lobo Temporal/patologia , Neuronite Vestibular/metabolismo
19.
Am J Otolaryngol ; 34(3): 258-61, 2013.
Artigo em Inglês | MEDLINE | ID: mdl-23318048

RESUMO

Facial nerve schwannoma (FNS) is an extremely rare benign tumour that may arise anywhere along the course of the facial nerve; the standard treatment is total removal via microsurgery. Stereotactic radiotherapy has been shown to be effective in the treatment of skull base tumours, in particular for acoustic neuromas; it is interesting to notice that also the few data existing in literature about the use of radiotherapy for non acoustic schwannomas show an excellent local control rate and few adverse effects. Here we report a case of facial nerve neuroma, involving the nerve sheath from the geniculate ganglion to the parotid gland, treated with fractionated stereotactic radiotherapy after debulking surgery.


Assuntos
Neoplasias dos Nervos Cranianos/patologia , Neoplasias dos Nervos Cranianos/radioterapia , Doenças do Nervo Facial/patologia , Doenças do Nervo Facial/radioterapia , Neurilemoma/patologia , Neurilemoma/radioterapia , Glândula Parótida/patologia , Neoplasias dos Nervos Cranianos/cirurgia , Fracionamento da Dose de Radiação , Doenças do Nervo Facial/cirurgia , Feminino , Gânglio Geniculado/patologia , Humanos , Imageamento por Ressonância Magnética , Pessoa de Meia-Idade , Neurilemoma/cirurgia , Tomografia Computadorizada por Raios X
20.
J Altern Complement Med ; 18(12): 1121-6, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22950829

RESUMO

OBJECTIVES: The purpose of this study was to evaluate the effectiveness of P6 acupressure on vertigo and neurovegetative symptoms, its possible interference with vestibular-ocular reflex (VOR), and its clinical usefulness during acute vertigo. MATERIALS AND METHODS: Two hundred and four patients, either affected by acute vertigo (n=124) or undergoing labyrinth stimulation (n=80), were randomly divided in two homogeneous groups: an experimental group A and a placebo group B. Each patient rated severity of vertigo and neurovegetative symptoms on a visuo-analogue scale ranging from 0 to 10, before and after bilateral placement of a P6 device. The latter was placed on the P6 acupressure point (appropriate placement) in Group A patients or on the dorsal part of the carpus (inappropriate placement) in the Group B patients. Furthermore, qualitative and quantitative nystagmus parameters were collected via recorded video-oculoscopy and electronystagmography. RESULTS: Eighty-five percent of Group A patients reported improvement of symptoms, which was significant for neurovegetative symptoms, but not for vertigo. In contrast, only 11% of the Group B patients reported improvement. VOR analysis did not show any significant variation of qualitative and quantitative nystagmus variables. CONCLUSIONS: This study demonstrated that the P6 device is effective in improving neurovegetative symptoms in patients affected by spontaneous and provoked vertigo, without any interference with VOR. Given the low cost and lack of side-effects of the P6 device, its routine application is suggested for acute vertigo and during labyrinth stimulation.


Assuntos
Acupressão , Pontos de Acupuntura , Reflexo Vestíbulo-Ocular , Vertigem/terapia , Doença Aguda , Adulto , Idoso , Idoso de 80 Anos ou mais , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Náusea/etiologia , Náusea/terapia , Vertigem/complicações , Vômito/etiologia , Vômito/prevenção & controle
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