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1.
Dysphagia ; 37(2): 217-236, 2022 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-33687558

RESUMO

Dysphagia is one of the most common and important complications of stroke. It is an independent marker of poor outcome after acute stroke and may become chronic after the acute period and continues to affect all aspects of the patient's life. Patients with stroke may encounter any of the medical branches in the emergency room or outpatient clinic, and as in our country, there may not be specialists specific for dysphagia, such as speech-language pathologists (SLP), in every hospital. This study aimed to raise awareness and create a common opinion of medical specialists for stroke patients with dysphagia. This recommendation paper has been written by a multidisciplinary team and offers 45 recommendations for stroke patients with dysphagia. It was created using the eight-step Delphi round via e-mail. This study is mostly specific to Turkey. However, since it contains detailed recommendations from the perspective of various disciplines associated with stroke, this consensus-based recommendation paper is not only a useful guide to address clinical questions in practice for the clinical management of dysphagia in terms of management, diagnosis, and follow-up, but also includes detailed comments for these topics.


Assuntos
Transtornos de Deglutição , Acidente Vascular Cerebral , Consenso , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Seguimentos , Humanos , Acidente Vascular Cerebral/complicações , Turquia
2.
Dysphagia ; 36(5): 800-820, 2021 10.
Artigo em Inglês | MEDLINE | ID: mdl-33399995

RESUMO

Dysphagia is one of the most common and important complications of stroke. It is an independent marker of poor outcome following acute stroke and it continues to be effective for many years. This consensus-based guideline is not only a good address to clinical questions in practice for the clinical management of dysphagia including management, diagnosis, follow-up, and rehabilitation methods, but also includes detailed algorithms for these topics. The recommendation paper has been written by a multidisciplinary team and offers 117 recommendations for stroke patients with dysphagia. While focusing on management principles, diagnosis, and follow-up in the 1st part (45 items), rehabilitation details were evaluated in the 2nd part (72 items).


Assuntos
Transtornos de Deglutição , Reabilitação do Acidente Vascular Cerebral , Acidente Vascular Cerebral , Consenso , Transtornos de Deglutição/etiologia , Transtornos de Deglutição/terapia , Humanos , Acidente Vascular Cerebral/complicações , Turquia
3.
Dysphagia ; 30(3): 296-303, 2015 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25687968

RESUMO

Swallowing mechanism and neurogenic dysphagia in MS have been rarely studied by electromyographical (EMG) methods. This study aims to evaluate the presence of subclinical dysphagia in patients with mild multiple sclerosis (MS) using electrophysiological methods. A prospective study of 51 patients with relapsing remitting multiple sclerosis and 18 age-matched healthy adults was investigated. We used electromyography to measure the activity of the submental muscles during swallowing. Electrophysiological recordings of patients were obtained during relapse, after relapse, and at any time in remission period. Clinical dysphagia was found in 12% of MS patients, while electrophysiological swallowing abnormalities were encountered in 33% of patients. Subclinical dysphagia was determined in 35% of patients during an MS relapse, in 20% of patients after a relapse, and in 25% of all 51 patients in the remission period based on EMG findings. Duration of swallowing signal of submental muscles in all MS patients was found to be longer than in normal subjects (p = 0.001). During swallowing of 50 ml of sequential water, the compensatory respiratory cycles occurred more often in MS patients than normal subjects, especially during a relapse (p = 0.005). This is the first study investigating swallowing abnormalities and subclinical dysphagia from the electrophysiological aspect in MS patients with mild disability. The electrophysiological tests described in this study are useful to uncover subclinical dysphagia since they have the advantage of being rapid, easy to apply, non-invasive, and without risk for the patients.


Assuntos
Transtornos de Deglutição/fisiopatologia , Deglutição , Eletromiografia , Esclerose Múltipla/complicações , Adolescente , Adulto , Idoso , Transtornos de Deglutição/etiologia , Água Potável , Eletromiografia/métodos , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
4.
J Stroke Cerebrovasc Dis ; 23(2): 321-6, 2014 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-23562210

RESUMO

BACKGROUND: Acetylsalicylic acid (ASA) and warfarin are used to prevent ischemic cerebrovascular events. They have serious complications including intracranial hemorrhages (ICHs). Warfarin-related intracerebral hemorrhage (ich) incidence is .2%-5% in population that accounts for 10%-12% of all ichs. In this article, we investigated the profile of ASA and warfarin-related spontaneous ICHs in comparison with ICHs without any drug use (WADU) with their clinical, radiological, and biochemical properties. METHODS: In all, 486 patients aged 18-101 years with spontaneous ICHs were included. Patients constituted 4 separate groups: users of warfarin, ASA, ASA + warfarin, and WADU. Clinical, neurological, etiological, and radiological data of these patients were compared. RESULTS: There were 32 patients in warfarin, 58 patients in ASA, and 7 in warfarin + ASA group. Most of the patients were in no drug group (389 patients). The most frequent type of hemorrhage was supratentorial intraparenchymal hemorrhage. The most common accompanying disease was hypertension. The number of female patients was statistically significant in the warfarin group. Glasgow Coma Scale (GCS), accompanying diseases, opening of the hematoma to the ventricle, localization of the hemorrhage, age of the patient, and activated partial thromboplastin time level are all related to the outcome of patients. Warfarin users had worst mortality rate. CONCLUSIONS: Use of warfarin, low GCS score, opening to ventricle, older age, accompanying diabetes, and/or hypertension were worse prognostic factors. It is possible that patients with these unfavorable prognostic factors cannot survive.


Assuntos
Anticoagulantes/efeitos adversos , Aspirina/efeitos adversos , Fibrinolíticos/efeitos adversos , Hemorragias Intracranianas/induzido quimicamente , Varfarina/efeitos adversos , Adolescente , Adulto , Fatores Etários , Idoso , Idoso de 80 Anos ou mais , Coagulação Sanguínea/efeitos dos fármacos , Comorbidade , Diabetes Mellitus/epidemiologia , Feminino , Escala de Coma de Glasgow , Humanos , Hipertensão/epidemiologia , Hemorragias Intracranianas/sangue , Hemorragias Intracranianas/diagnóstico , Hemorragias Intracranianas/mortalidade , Masculino , Pessoa de Meia-Idade , Prognóstico , Estudos Retrospectivos , Medição de Risco , Fatores de Risco , Fatores de Tempo , Turquia/epidemiologia , Adulto Jovem
5.
Exp Brain Res ; 224(1): 79-91, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-23064808

RESUMO

Intraoral trigeminal afferents elicit EMG activity from the lower facial muscle, orbicularis oris (OR) during swallowing. The upper facial muscles and especially orbicularis oculi (OC) were not previously known to be associated with deglutitional events. Nevertheless, given the large area of intraoral mucosa and teeth innervated by the trigeminal nerve afferents, a connection between OC motoneurons and deglutition may theoretically be expected, which we sought to evaluate in this study. Healthy controls were investigated for the possible synchronization of orbicularis OC and OR muscles during deglutition by the following methods: EMG activities were recorded during voluntary dry, 3-, 10-, 20-ml discrete wet swallowing, and sequential swallowing from a cup, concurrent with respiratory recording. A polygraphic recording was obtained from these muscles to determine whether they were synchronously activated during spontaneous swallowing. The polygraphic recording during spontaneous swallowing demonstrated that the OC and OR muscles were synchronously activated in all subjects. This synchronous activation was less prominent in voluntary discrete swallowing. It is proposed that this might be based on trigemino-solitarii-facial pathways with weaker connection to OC muscles. The synchronization of OC muscle activity with deglutition may be an evolutionary process that should be rudimentary in higher mammals including humans. The swallowing-induced cranial muscle activities could potentially explain some movement disorders, such as craniofacial dystonias.


Assuntos
Deglutição/fisiologia , Potencial Evocado Motor/fisiologia , Músculos Faciais/fisiologia , Músculos da Mastigação/fisiologia , Adulto , Idoso , Eletroencefalografia , Eletromiografia/métodos , Pálpebras/inervação , Feminino , Humanos , Lábio/inervação , Masculino , Pessoa de Meia-Idade , Movimento/fisiologia , Fenômenos Fisiológicos da Pele , Sono , Estatísticas não Paramétricas , Vigília , Adulto Jovem
6.
Crit Care Med ; 38(12): 2377-8, 2010 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-20890193

RESUMO

OBJECTIVES: Brain death is the colloquial name for human death determined by tests showing irreversible cessation of the clinical functions of the brain. Spontaneous and reflex movements have been described in brain death. The aim of this report is to describe a brain-dead patient with unusual motor movements. DESIGN AND SETTING: The patient was followed and her motor movements were videotaped. PATIENT: We report the presence of extensive and long-lasting fasciculations in a patient who fulfilled the criteria for brain death. MEASUREMENTS AND MAIN RESULTS: We describe and show on videotape a brain-dead patient with rare motor movements. CONCLUSION: We suggest that fasciculations outlined in this study has to be accepted as motor symptoms in brain death patients.


Assuntos
Morte Encefálica/patologia , Fasciculação/etiologia , Parada Cardíaca/diagnóstico , Hemorragia Subaracnóidea/complicações , Idoso , Coma/diagnóstico , Coma/etiologia , Estado Terminal , Eletroencefalografia , Fasciculação/fisiopatologia , Evolução Fatal , Feminino , Escala de Coma de Glasgow , Parada Cardíaca/etiologia , Humanos , Unidades de Terapia Intensiva , Hemorragia Subaracnóidea/diagnóstico , Tomografia Computadorizada por Raios X/métodos
7.
J Stroke Cerebrovasc Dis ; 19(3): 220-224, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20434050

RESUMO

BACKGROUND: Acute centrum ovale (CO) infarction confined to the territory of perforating long medullary arteries is rarely reported. This study was designed to investigate the full spectrum of clinical findings, topography, and pathogenesis of patients with acute CO infarct. METHODS: A total of 64 patients with CO infarct were recorded. Risk factors such as age, hypertension, diabetes mellitus, hypercholesterolemia, smoking, and cardiopathy were recorded. RESULTS: The average age of the patients was 64.2 years. There were 46 patients (71.8%) in large-infarct group and 18 patients (28.1%) in small-infarct group. The most frequent risk factor was hypertension (89.1%). Other risk factors included smoking (39%), diabetes mellitus (29.7%), hyperlipidemia (28.1%), transient ischemic attack (15%), carotid stenosis (9%), atrial fibrillation (21%), other potential cardiac source of embolism (39%), and myocardial infarct (4%). The main clinical feature was faciobrachiocrural paralysis associated dysarthria (51.6%). Other clinical characteristics were facial, upper and lower extremity paralysis with sensorial deficits and/or dysarthria (26.6%), hemiparesis including face (12.5%), and either facial and upper or upper and lower extremity paralysis with hemisensorial deficit (9.4%). The baseline Barthel index was found to be less than 50 in 22 patients (34.4%) and greater than 50 in 42 patients (65.6%) for the entire group whereas 72% of patients were independent at discharge. CONCLUSION: In this article, risk factors, clinical spectrum, and features of CO infarcts were correlated in a large patient group. The majority of CO infarcts were large and had a poorer outcome compared to previous reports.


Assuntos
Infarto Cerebral/diagnóstico por imagem , Infarto Cerebral/patologia , Bulbo/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Angiografia Cerebral , Artérias Cerebrais/patologia , Córtex Cerebral/patologia , Infarto Cerebral/complicações , Progressão da Doença , Feminino , Humanos , Hipertensão/complicações , Hipertensão/epidemiologia , Angiografia por Ressonância Magnética , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Paralisia/etiologia , Fatores de Risco , Acidente Vascular Cerebral/diagnóstico por imagem , Acidente Vascular Cerebral/etiologia , Tomografia Computadorizada por Raios X
8.
Pain Pract ; 10(3): 222-7, 2010.
Artigo em Inglês | MEDLINE | ID: mdl-20158621

RESUMO

Migraine attacks are characterized by headaches associated with neurological, gastrointestinal, and autonomic symptoms. A relationship between migraine and hypertension or hypotension is controversial. In this study, we aimed to determine if blood pressure changes were related to migraine attacks. From the outpatient clinic of our neurology department, 62 normotensive migraine patients with and without aura were chosen for study in accordance with the International Headache Society 2004 criteria. A questionnaire including general and specific questions was given to the patients to be filled out during 6 consequent migraine attacks. The patients received a fully automatic digital brachial upper arm sphygmomanometer (Omron M 4-1) to measure the changes in their blood pressure during attacks. The patients were asked to record their blood pressure changes 3 times: (1) just before or very early, (2) during (when headache peaks), and (3) 1 hour after the attack. Twenty-three of the 62 patients (57 women, 5 men) had migraine with aura (22 women and 1 man), and 39 of them did not have aura (35 women and 4 men). There was no statistically significant difference between systolic and diastolic values obtained before or very early, during the peak level, and 1 hour after the end of the attacks (P > 0.05). Although diastolic hypotensive values were not different statistically between groups, when all the patients were considered, diastolic hypotensive values were detected in a considerable number of patients (a total of 115 measurements). In this normotensive migrainous population, we observed that diastolic hypotension before or very early, during, and after migraine attack was the most significant result (5.1%). Although it was not statistically significant, the total number of hypotensive values was remarkable.


Assuntos
Pressão Sanguínea/fisiologia , Transtornos de Enxaqueca/fisiopatologia , Adolescente , Adulto , Fatores Etários , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fatores Sexuais , Adulto Jovem
9.
Int J Neurosci ; 119(11): 2044-55, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19863260

RESUMO

OBJECTIVE: Lateral spreading and synkinetic responses of blink reflex are a sign of ephaptic transmission in idiopathic hemifacial spasm (HFS). The aim of this study was to evaluate the effect of botulinum toxin A (Btx A) on ephaptic transmission in idiopathic HFS. METHODS: Thirty-three patients with idiopathic HFS were investigated. Btx A was injected only into the affected orbicularis oculi (OC) muscle. Electrophysiological studies were performed before and three weeks after the Btx A injection. RESULTS: After Btx A, the latencies of motor response and blink reflexes elicited from the OC muscle were significantly increased. The lateral spreading was not obtained in the OC muscle, while the orbicularis oris muscle response was not changed. There were no significant differences in the synkinetic responses of blink reflex. During needle EMG examination, positive sharp waves and fibrilation potentials were observed due to chemodenervation only in the OC muscle. CONCLUSION: Btx A affects only the neuromuscular junctions of the injected muscle and has no effect upon ephaptic transmission.


Assuntos
Piscadela/efeitos dos fármacos , Toxinas Botulínicas Tipo A/farmacologia , Espasmo Hemifacial/tratamento farmacológico , Espasmo Hemifacial/fisiopatologia , Junção Neuromuscular/efeitos dos fármacos , Piscadela/fisiologia , Denervação/métodos , Eletromiografia , Músculos Faciais/efeitos dos fármacos , Músculos Faciais/inervação , Músculos Faciais/fisiopatologia , Nervo Facial/efeitos dos fármacos , Nervo Facial/fisiopatologia , Doenças do Nervo Facial/tratamento farmacológico , Doenças do Nervo Facial/fisiopatologia , Feminino , Junções Comunicantes/efeitos dos fármacos , Junções Comunicantes/fisiologia , Humanos , Masculino , Pessoa de Meia-Idade , Contração Muscular/efeitos dos fármacos , Contração Muscular/fisiologia , Fármacos Neuromusculares/farmacologia , Junção Neuromuscular/fisiopatologia , Avaliação de Resultados em Cuidados de Saúde , Tempo de Reação/efeitos dos fármacos , Tempo de Reação/fisiologia , Transmissão Sináptica/efeitos dos fármacos , Transmissão Sináptica/fisiologia , Resultado do Tratamento
10.
Pain Pract ; 9(5): 380-4, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19622107

RESUMO

This study describes the pain characteristics of the chronic migraine, including duration, intensity, quality, aggravation by activity, associated features in a headache clinic. One hundred twenty-one chronic migraine patients were evaluated. A total of 79% patients were female, and the mean age was 43.6 years, ranging from 19.0 to 54.2 years. The pain characteristics were predominantly unilateral; either side attacks (43.8%), strictly left-side (19%), or right side (19%). Headache character was reported as throbbing (67%), aching (14%), stabbing (10%), and pressure (9%). Of the associated autonomic features, lacrimation was the most common. Photophobia (83.5%) and phonophobia (72.7%) often were noted. When compared, only previous headache diagnosis, headache character and onset of headache were found to be statistically different between female and male patients (P < 0.05).


Assuntos
Transtornos de Enxaqueca/complicações , Dor/etiologia , Adulto , Doença Crônica , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Transtornos de Enxaqueca/psicologia , Clínicas de Dor/estatística & dados numéricos , Medição da Dor , Grupos Populacionais , Estudos Prospectivos , Índice de Gravidade de Doença , Adulto Jovem
11.
Turk Psikiyatri Derg ; 28(3): 217-220, 2017.
Artigo em Turco | MEDLINE | ID: mdl-28936822

RESUMO

INTRODUCTION: Posterior reversible encephalopathy syndrome (PRES) is a clinico-radiological entity characterized by headache, altered mental status, epileptic seizures, visual disturbances and typically transient changes in posterior cerebral circulation areas. In this article, we present a case of alcohol withdrawal accompanied by PRES. CASE PRESENTATION: A 53-year-old male patient presented to the emergency department with visual hallucinations and meaningless speech. History from his relatives revealed that he has been consuming alcohol for about 35 years and the last consumption was 3 days before the admission. On neurological examination, there was limited cooperation and disorientation was evident to person, place and time. The speech was incoherent. No localizing sign was observed. Cranial magnetic resonance imaging (MRI) revealed bilateral hyperintense areas in medial occipital cortices and in subcortical white matter extending partly into parietal region. Treatment for alcohol withdrawal was started. Signs and symptoms regressed on the 7th day of the treatment as well as the lesions on MRI. DISCUSSION: The clinical presentation, characteristic MRI features together with the reversible nature of the syndrome suggest the diagnosis of PRES. The precise pathophysiological mechanism of PRES still remains unclear. Hypertension, clinical conditions that are associated with impaired cerebral auto-regulation as well as alcohol use which increases the levels of reactive oxygen species and nitric oxide may lead to the disruption of endothelial cells and blood-brain barrier breakdown. Overall, in our case, we think chronic alcoholism and alcohol withdrawal might have caused endothelial dysfunction leading to PRES.


Assuntos
Delirium por Abstinência Alcoólica/complicações , Síndrome da Leucoencefalopatia Posterior/diagnóstico , Diagnóstico Diferencial , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Síndrome da Leucoencefalopatia Posterior/diagnóstico por imagem , Síndrome da Leucoencefalopatia Posterior/etiologia
12.
J Clin Neurophysiol ; 34(5): 393-399, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-28873071

RESUMO

PURPOSE: Patients with Guillain-Barré syndrome (GBS), especially severe cases that require treatment in intensive care units, often experience swallowing difficulties. However, the oropharyngeal function of patients with GBS not treated in intensive care units is not typically evaluated using neurophysiological techniques. METHODS: Electrophysiological techniques were used to determine dysphagia limit and sequential water swallowing values in an electromyography laboratory. RESULTS: This study assessed 18 patients with GBS who were not treated in the intensive care unit between 4 and 45 days after their hospital admission; 18 healthy volunteers were used as a control group. Of the 18 patients with GBS, 7 exhibited the clinical involvement of either a single cranial nerve or a combination of cranial nerves while 11 did not show any lower cranial nerve involvement. Clinical dysphagia was observed in seven patients and six of these cases involved a lower cranial nerve while five patients without cranial nerve involvement had silent dysphagia according to the dysphagia limit test. In addition, the duration of sequential swallowing was significantly prolonged in all patients with GBS compared with the control subjects. CONCLUSIONS: The present findings demonstrated that neurophysiological techniques are useful and easily applicable for patients with GBS and that there were no complications. Furthermore, cranial nerve involvement in patients with GBS likely increased the incidence of oropharyngeal dysphagia, and subclinical dysphagia may be present in this population as well. Therefore, neurophysiological techniques can be initially used and then repeated during follow-up visits for all types of patients with GBS.


Assuntos
Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/etiologia , Síndrome de Guillain-Barré/complicações , Adulto , Idoso , Idoso de 80 Anos ou mais , Eletromiografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
14.
J Electromyogr Kinesiol ; 16(1): 58-65, 2006 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-16202625

RESUMO

PURPOSE: To identify the function of stylohyoid and posterior digastricus (STH-PD) muscle complex by the EMG techniques. METHODS: Unaffected sides of the faces of 30 patients with facial paralysis or hemifacial spasm were investigated. A concentric needle electrode was inserted to the STH-PD muscle complex and another concentric needle electrode was inserted to the orbicularis oris (OO) muscle. Simultaneous recording were obtained from two muscles using electrical stimulation (ES) (in 25 cases) and magnetic coil stimulation (MS) (in 15 cases); and both in 10 cases. Afterwards, the function of STH-PD was studied such as whistling, lip pursing, swallowing, jaw opening and closing. RESULTS: (1) The motor latency of compound muscle action potential (CMAP) of the STH-PD muscle was shorter than that of OO. (2) When the facial nerve was stimulated more distally than the stylomastoid foramen, the CMAP elicited from the STH-PD muscle complex immediately disappeared. (3) Ipsilateral MS was able to elicit the motor evoked potential (MEP) from STH-PD either at intracranially (half of cases) or at the extracranially. While OO muscle was always stimulated intracranially by MS. (4) The STH-PD muscle complex could not be basically recruited by the mimicry except lip pursing. The main recruitment were provided by swallowing and jaw opening. Cortical MS were facilitated during swallowing (5) Late reflex responses appeared in the STH-PD muscle complex during infraorbital-trigeminal and facial nerve ES. CONCLUSION: The STH-PD muscle complex is identified electrophysiologically. Although it is innervated by the facial nerve, its functions are mainly related with jaw opening and oropharyngeal swallowing. However, it is activated by the lip pursing.


Assuntos
Paralisia Facial/fisiopatologia , Espasmo Hemifacial/fisiopatologia , Músculos do Pescoço/fisiopatologia , Potenciais de Ação , Adulto , Idoso , Estimulação Elétrica , Eletromiografia , Nervo Facial/fisiopatologia , Feminino , Humanos , Magnetismo , Masculino , Pessoa de Meia-Idade , Músculos do Pescoço/inervação
15.
Neurophysiol Clin ; 46(3): 171-8, 2016 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-26924307

RESUMO

OBJECTIVE: To investigate electrophysiological parameters of swallowing in all stages of Alzheimer's disease. METHODS: Forty Alzheimer's disease patients, 20 age-matched normal controls and 20 young normal controls were included. Dysphagia limit (DL) and sequential water swallowing (SWS) tests were performed. Cardiac rhythm, respiration and sympathetic skin responses were concomitantly recorded. RESULTS: Dysphagia was found in 30/40 (75%) of Alzheimer's disease patients. Mean volume at the DL test was significantly reduced (16.5±1.0mL) in the Alzheimer's disease group. Swallowing and apnea times in the SWS test were significantly prolonged in elderly controls, but even longer in Alzheimer's disease patients. CONCLUSIONS: Alzheimer's disease patients had electrophysiological features of dysphagia, even in the early period of disease. The cortical involvement and severity of cognitive disorder can increase swallowing problems, but subclinical signs of dysphagia may be observed even in patients with mild or moderate Alzheimer's disease.


Assuntos
Doença de Alzheimer/complicações , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Apneia/fisiopatologia , Transtornos de Deglutição/etiologia , Eletrocardiografia , Eletromiografia , Feminino , Resposta Galvânica da Pele , Frequência Cardíaca , Humanos , Masculino , Pessoa de Meia-Idade , Respiração , Sistema Nervoso Simpático/fisiopatologia , Adulto Jovem
16.
Case Rep Neurol Med ; 2016: 8647645, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27298745

RESUMO

Background. Hereditary inclusion body myopathy is caused by biallelic defects in the GNE gene located on chromosome 9p13. It generally affects adults older than 20 years of age. Methods and Results. In this study, we present two Turkish sisters with progressive myopathy and describe a novel mutation in the GNE gene. Both sisters had slightly higher levels of creatine kinase (CK) and muscle weakness. The older sister presented at 38 years of age with an inability to climb steps, weakness, and a steppage gait. Her younger sister was 36 years old and had similar symptoms. The first symptoms of the disorder were seen when the sisters were 30 and 34 years old, respectively. The muscle biopsy showed primary myopathic features and presence of rimmed vacuoles. DNA analysis demonstrated the presence of previously unknown homozygous mutations [c.2152 G>A (p.A718T)] in the GNE genes. Conclusion. Based on our literature survey, we believe that ours is the first confirmed case of primary GNE myopathy with a novel missense mutation in Turkey. These patients illustrate that the muscle biopsy is still an important method for the differential diagnosis of vacuolar myopathies in that the detection of inclusions is required for the definitive diagnosis.

17.
J Neurol ; 252(4): 429-35, 2005 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-15726262

RESUMO

Recently it has been proposed that corticobulbar innervation of the lower facial muscles is bilateral, that is from both right and left sides of the motor cortex. The objectives of this study were, i) to evaluate the corticonuclear descending fibers to the perioral muscles and, ii) to determine how central facial palsy (CFP) occurs and often recovers rapidly following a stroke. Eighteen healthy volunteers and 28 patients with a previous history of a stroke and CFP (mean ages: 51 and 61 years) were investigated by TMS (transcranial magnetic stimulation) with a figure of eight coil. Intracranial facial nerve and cortical motor evoked potentials (MEPs) were recorded from the perioral muscles. The periorbital MEPs were also studied. The absence of MEPs in both perioral muscles with TMS of the affected hemisphere was the most obvious abnormality. Also, central conduction time was significantly prolonged in the remaining patients. The mean amplitude of the affected hemisphere MEPs was diminished. The amplitudes of the unaffected hemisphere MEPs recorded from the intact side were enhanced especially in the first week following the stroke. During TMS, only the blink reflexes were elicited from the periorbital muscles due to stimulus spreading to trigeminal afferent nerve fibers. It is concluded that perioral muscles are innervated by the corticobulbar tract bilaterally. CFP caused by a stroke is generally incomplete and mild because of the ipsilateral cortical and multiple innervations out of the infarction area, and recovers fast through cortical reorganisation.


Assuntos
Músculos Faciais/fisiopatologia , Paralisia Facial/fisiopatologia , Córtex Motor/fisiopatologia , Adulto , Idoso , Estimulação Elétrica/métodos , Eletromiografia/métodos , Potencial Evocado Motor/fisiologia , Potencial Evocado Motor/efeitos da radiação , Feminino , Lateralidade Funcional , Humanos , Magnetismo , Masculino , Pessoa de Meia-Idade , Tempo de Reação/fisiologia , Tempo de Reação/efeitos da radiação , Acidente Vascular Cerebral/complicações , Acidente Vascular Cerebral/fisiopatologia , Fatores de Tempo
18.
Neurophysiol Clin ; 35(1): 11-7, 2005 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-15808963

RESUMO

AIM OF THE STUDY: An electrophysiological technique assessing the sympathetic skin activity related to sudomotor function from the genital skin has been described previously in normal adult man. The problems of the genitourinary tracts and the sexual disorders are difficult to analyse in women. In this paper, a method for recording the genital sympathetic skin responses (g-SSR) has been described in normal women and the objective changes were demonstrated in female patients with diabetes mellitus. MATERIAL AND METHOD: Our study comprised 20 healthy adult women (mean age 42.5 years) and 20 diabetic women (mean age 52.8 years). We examined both left hand sympathetic skin responses (SSR) and genital region SSR by electrophysiological methods. Superficial Ag-AgCl electrodes were placed on perineum in front of the anal sphincter and 1-1.5 cm lateral to right labia majora for recording after the stimulation of the right median nerve. All g-SSRs from both recording sites were analysed, latency and amplitudes were compared in normal subjects and patients. RESULTS: It has been clearly demonstrated that the g-SSR is easily obtained from all normal female subjects in labia majora-perineum montage. In seven of 20 diabetic patients g-SSR could not be elicited. Mean amplitude was significantly reduced in diabetic group according to normal subjects (P < 0.05). CONCLUSION: It was concluded that the method described in this study is easily applied and objectively evaluated for the female patients with genitourinary and sexual problems.


Assuntos
Diabetes Mellitus/fisiopatologia , Resposta Galvânica da Pele , Pele/inervação , Sistema Nervoso Simpático/fisiopatologia , Adulto , Feminino , Genitália Feminina , Mãos , Humanos , Pessoa de Meia-Idade
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