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1.
BMC Neurol ; 15: 104, 2015 Jul 05.
Artigo em Inglês | MEDLINE | ID: mdl-26141135

RESUMO

BACKGROUND: Aspiration pneumonia is an important cause of morbidity and mortality in Parkinson's disease (PD). Clinical characteristics of PD patients in addition to specific alterations in swallowing mechanisms contribute to higher swallowing times and impairment in the effective clearance of the airway. These issues may render patients more prone to dysphagia and aspiration events. We aimed to determine the frequency of aspiration events in a hospitalized PD cohort, and to report the number of in-hospital swallow evaluations. METHODS: A retrospective single center chart review of 212 PD patients who had 339 hospital encounters was performed from January 2011 to March 2013. Demographics, clinical characteristics, and reasons for encounters were documented. The number of in-hospital aspiration events and the number of swallowing evaluations and also the implementation of aspiration precautions were recorded. RESULTS: The cohort had a mean age of 74.1 (SD = 10.1) years with mean disease duration of 6 (SD = 6.3) years. Fifty-two hospital encounters (15.3%) were related to a pulmonary cause. In-hospital aspiration pneumonia events were reported in 8 (2.4%) of the total encounters. Swallow evaluations were performed in 25% of all cases, and aspiration precautions were initiated in 32% of the encounters. The data revealed that 1/8 patient had swallowing evaluations performed prior to an aspiration event. CONCLUSIONS: In-hospital aspiration pneumonia events were reported in 2.4% of the hospitalized PD cohort. Preventive measures and precautions were not routinely performed, however rates of aspiration were relatively low. The results highlight the need for more research into screening and monitoring of swallowing problems in PD patients during hospital encounters.


Assuntos
Transtornos de Deglutição/etiologia , Doença de Parkinson/complicações , Pneumonia Aspirativa/epidemiologia , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Deglutição , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pneumonia Aspirativa/etiologia , Estudos Retrospectivos
2.
Neuromodulation ; 18(2): 113-7, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24799286

RESUMO

BACKGROUND: Subthalamic nucleus deep brain stimulation (STN-DBS) is a valid therapeutic tool that ameliorates motor symptoms in patients with Parkinson's disease (PD). However, apathy is one of the neuropsychiatric complications that may occur after STN-DBS surgery, and this may adversely influence the quality of life of patients despite significant motor improvement. OBJECTIVE: This study aimed to elucidate preoperative predictive factors for the presence of postoperative apathy in patients treated with STN-DBS. METHODS: Twenty-five consecutive PD patients receiving bilateral STN-DBS were recruited. The assessment instruments include modified Hoehn & Yahr stages, Unified Parkinson's Disease Rating Scale motor (part III) and dyskinesia (part IVa) scores, Parkinson's Disease Questionnaire-39 scores, Self-Rating Depression Scale scores, and Apathy Scale scores. Predictive factors for postoperative apathy were assessed. RESULTS: While STN-DBS resulted in a significant improvement in motor symptoms, six patients (24%) developed significant apathy after surgery. In multiple logistic regression analyses, preoperative severity of dyskinesia was found to be an independent predictor for the acute phase of postoperative apathy with STN-DBS (odds ratio = 89.993, p = 0.003). CONCLUSIONS: This study suggests that preoperative dyskinesia may predict postoperative apathy in the acute phase in patients with PD treated with STN-DBS. The pathogenesis of postoperative apathy remains unknown, but in patients with severe dyskinesia before STN-DBS, attention should be given to monitoring for postoperative apathy.


Assuntos
Apatia/fisiologia , Estimulação Encefálica Profunda/efeitos adversos , Transtornos do Humor/etiologia , Doença de Parkinson/terapia , Núcleo Subtalâmico/fisiologia , Adulto , Feminino , Humanos , Modelos Logísticos , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Valor Preditivo dos Testes , Índice de Gravidade de Doença
3.
SAGE Open Med ; 8: 2050312120913458, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32231782

RESUMO

OBJECTIVES: Deep brain stimulation is widely used to treat movement disorders and selected neuropsychiatric disorders. Despite the fact, the surgical methods vary among centers. In this study, we aimed to evaluate our own surgical complications and how we performed surgical troubleshooting. METHODS: A retrospective chart review was performed to evaluate the clinical data of patients who underwent deep brain stimulation surgery and deep brain stimulation-related procedures at our center between October 2014 and September 2019. We reviewed surgical complications and how surgical troubleshooting was performed, regardless of where the patient underwent the initial surgery. RESULTS: A total of 92 deep brain stimulation lead implantation and 43 implantable pulse generator replacement procedures were performed. Among the 92 lead implantation procedures, there were two intracranial lead replacement surgeries and one deep brain stimulation lead implantation into the globus pallidus to add to existing deep brain stimulation leads in the bilateral subthalamic nuclei. Wound revision for superficial infection of the implantable pulse generator site was performed in four patients. There was neither intracerebral hemorrhage nor severe hardware infection in our series of procedures. An adaptor (extension cable) replacement was performed due to lead fracture resulting from a head trauma in two cases. CONCLUSION: We report our experience of surgical management of adverse events associated with deep brain stimulation therapy with clinical vignettes. Deep brain stimulation surgery is a safe and effective procedure when performed by a trained neurosurgeon. It is important for clinicians to be aware that there are troubles that are potentially manageable with optimal surgical treatment.

4.
J Neurol Sci ; 398: 148-156, 2019 Mar 15.
Artigo em Inglês | MEDLINE | ID: mdl-30716581

RESUMO

OBJECTIVES: Deep brain stimulation (DBS) of the ventral intermediate (Vim) thalamic nucleus is used to treat tremors. Here, we identified the Vim nucleus on fast gray matter acquisition T1 inversion recovery (FGATIR) images and delineated the dentate-rubrothalamic tract (DRT) to determine the DBS target. We evaluated whether this method could consistently identify the Vim nucleus by anatomical imaging and fiber tractography. METHODS: We retrospectively reviewed clinical data of patients who underwent unilateral thalamic DBS for severe tremor disorders. We evaluated outcomes at baseline, 6 months and 1 year following intervention, and annually thereafter. We reviewed preoperative planning to determine whether our tractography technique could consistently depict the DRT, and evaluated implanted electrode position by fusing postoperative CT scans to preoperative MR images. RESULTS: Seven patients (three men and four women) were included; preoperative diagnoses included essential tremor (n = 3), Parkinson's (n = 2), and Holmes tremor (n = 2). All patients responded to DBS therapy; motor scores improved at 6-month and last follow-up. The Vim nucleus was successfully identified, as the DRT was depicted in all cases. Of ten active DBS contacts in seven leads, four contacts were located outside of the depicted DRT, and these contacts tended to require higher stimulation intensity. CONCLUSIONS: The Vim nucleus was successfully identified with FGATIR. Our methods may be useful to determine optimal DBS trajectory, and potentially improve outcomes.


Assuntos
Estimulação Encefálica Profunda/métodos , Imagem de Tensor de Difusão/métodos , Tálamo/anatomia & histologia , Tálamo/diagnóstico por imagem , Tremor/diagnóstico por imagem , Tremor/terapia , Idoso , Idoso de 80 Anos ou mais , Estudos de Coortes , Feminino , Seguimentos , Humanos , Imageamento por Ressonância Magnética/métodos , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Técnicas Estereotáxicas
5.
Artigo em Inglês | MEDLINE | ID: mdl-31565538

RESUMO

Background: Essential tremor (ET) is a common movement disorder characterized by kinetic and postural tremor in the upper extremities and frequently in the midline. Persons with ET often also exhibit gait ataxia. Previous studies have observed associations between midline tremor severity and gait ataxia in persons with ET, suggesting a common pathophysiology distinct from that of upper extremity tremor. However, a causal link between midline tremor and gait impairment has not been established. Methods: We investigated tremor and gait in 24 persons with ET before and after implantation of unilateral deep brain stimulation into the ventralis intermedius nucleus of the thalamus. Results: Stimulation significantly improved tremor in the targeted upper extremity and midline. However, gait was unaffected at the cohort level. Furthermore, improvement in midline tremor was not significantly associated with gait improvement. Discussion: These findings revealed that midline tremor and gait impairment may be dissociable in persons with ET.


Assuntos
Estimulação Encefálica Profunda , Tremor Essencial/terapia , Transtornos Neurológicos da Marcha/terapia , Idoso , Estudos de Coortes , Tremor Essencial/complicações , Feminino , Transtornos Neurológicos da Marcha/etiologia , Humanos , Masculino , Pessoa de Meia-Idade , Resultado do Tratamento , Núcleos Ventrais do Tálamo/cirurgia
6.
Brain Res ; 1217: 239-46, 2008 Jun 27.
Artigo em Inglês | MEDLINE | ID: mdl-18508037

RESUMO

Apolipoprotein E epsilon4 is an independent risk factor for Alzheimer's disease (AD) and is the main constituent of high-density lipoprotein (HDL) as a source of cholesterol in the brain. ATP-binding cassette transporter G4 (ABCG4) is one of the membrane cholesterol transporter which is implicated in HDL-mediated cholesterol efflux, but its precise localization and function in the brain has been unclear. In AD brain, ABCG4 protein was highly expressed in microglial cell that was closely located to senile plaques, whereas in non-neurological cases positive cells were not seen in cortical and nigral tissues. As well as the ABCG4 protein, ABCG4 mRNA signal was detected in microglial cell closely located to senile plaque of AD brain by in situ hybridization histochemistry. These results suggest that upregulated ABCG4 in microglia may accelerate the lipidation of apoE and HDL in the AD brain. This is the first report to show that ABCG4 is highly expressed in microglia on AD brain.


Assuntos
Transportadores de Cassetes de Ligação de ATP/biossíntese , Doença de Alzheimer/metabolismo , Encéfalo/metabolismo , Expressão Gênica , Microglia/metabolismo , Subfamília G de Transportadores de Cassetes de Ligação de ATP , Idoso , Idoso de 80 Anos ou mais , Doença de Alzheimer/patologia , Apolipoproteínas E/metabolismo , Western Blotting , Encéfalo/patologia , HDL-Colesterol/metabolismo , Feminino , Humanos , Imuno-Histoquímica , Hibridização In Situ , Masculino , Pessoa de Meia-Idade , Placa Amiloide/patologia , RNA Mensageiro/análise , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Transfecção , Regulação para Cima
7.
NMC Case Rep J ; 4(1): 1-3, 2017 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-28664016

RESUMO

Eye opening apraxia (EOA) has been described in literature as a complication of deep brain stimulation (DBS), especially after electrode implantation in the subthalamic nucleus (STN). EOA can be either worsened or alleviated by DBS depending on the etiology. Herein, we report a rare case where the progression of brain atrophy may have contributed to the delayed onset of EOA. The patient, a 73-year-old woman, had previously undergone bilateral STN-DBS for advanced Parkinson's disease (PD), which was performed by another DBS team, at the age of 68 years. She initially experienced a dramatic improvement in her motor symptoms, with no adverse events. However, she had difficulty in opening her right eye 3 years after the DBS surgery. Imaging studies showed that the brain atrophy had progressed over the past 5 years, and that the DBS electrodes were implanted through the far anterior entry points. We considered that the relative movement of the DBS might have been caused by the progression of the brain atrophy to the posterior limb of the internal capsule (IC) where the corticobulbar tract exists, and this was enhanced by the lower implantation angle. The present case illustrates the importance of the DBS insertion angle considering the a+ trophic effect and the follow-up imaging studies after DBS.

8.
Front Hum Neurosci ; 10: 629, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-28018196

RESUMO

It remains unclear how deep brain stimulation (DBS) modulates the global neuronal network involving cortical activity. We aimed to evaluate changes in cortical activity in six (two men; four women) patients with Parkinson's disease (PD) who underwent unilateral globus pallidus interna (GPI) DBS surgery using a multi-channel near infrared spectroscopy (NIRS) system. As five of the patients were right-handed, DBS was performed on the left in these five cases. The mean age was 66.8 ± 4.0 years. The unified Parkinson's disease rating scale (UPDRS) motor scores were evaluated at baseline and 1- and 6-month follow-up. Task-related NIRS experiments applying the block design were performed at baseline and 1-month follow-up. The mean of the total UPDRS motor score was 48.5 ± 11.1 in the off-medication state preoperatively. Postoperatively, total UPDRS motor scores improved to 26.8 ± 16.6 (p < 0.05) and 22.2 ± 8.6 (p < 0.05) at 1- and 6-month follow-up, respectively. A task-related NIRS experiment showed a postoperative increase in the cortical activity of the prefrontal cortex comparable to the preoperative state. To our knowledge, this is the first study to use a multi-channel NIRS system for PD patients treated with DBS. In this pilot study, we showed changes in motor-associated cortical activities following DBS surgery. Therapeutic DBS was concluded to have promoted the underlying neuronal network remodeling.

9.
eNeurologicalSci ; 4: 19-21, 2016 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29430543

RESUMO

OBJECTIVE: Parkinson's disease (PD) is a progressive neurodegenerative disease. As the severity of disease worsens, patients have lower tolerance for treatments and occasionally need to be hospitalized. This study focuses on characteristics of patients with PD who were emergently admitted to our hospital and evaluates their prognosis during hospitalization. METHODS: Hospital-based study on emergency admission was conducted in a consecutive series of patients with PD between April 2009 and March 2015. RESULTS: A total of 164 admissions involving 136 patients with PD with available medical records were identified. Among these, 40 admissions involving 38 patients were emergency admissions. The most common cause of hospitalization was aspiration pneumonia (n = 17) followed by parkinsonism hyperpyrexia syndrome (n = 6), cerebrovascular disease (n = 2), dehydration (n = 2), and others (n = 13). The mean Hoehn and Yahr stage at admission and discharge were 3.5 and 4.2, respectively, with significant differences between time points (p < 0.001). All patients except one presented with either postural instability gait difficulty phenotype (PIGD) or mixed phenotype with PIGD and tremor. All 17 patients with aspiration pneumonia had various combinations of three components: abnormalities seen on videofluoroscopy swallowing study, cognitive impairment, and history of psychiatric symptoms. CONCLUSION: Aspiration pneumonia was the most common reason for emergency admission in patients afflicted with PD for more than five years. Abnormalities seen in videofluoroscopy, PIGD and mixed phenotypes, cognitive impairment, and history of psychiatric symptoms could potentially be predictors for aspiration pneumonia in patients with PD.

10.
PLoS One ; 11(5): e0153785, 2016.
Artigo em Inglês | MEDLINE | ID: mdl-27159519

RESUMO

OBJECTIVE: To investigate the impact of pre-operative deep brain stimulation (DBS) interdisciplinary assessments on post-operative hospitalizations and quality of life (QoL). BACKGROUND: DBS has been utilized successfully in Parkinson's disease (PD) for the treatment of tremor, rigidity, bradykinesia, off time, and motor fluctuations. Although DBS is becoming a more common management approach there are no standardized criteria for selection of DBS candidates, and sparse data exist to guide the use of interdisciplinary evaluations for DBS screening. We reviewed the outcomes of the use of an interdisciplinary model which utilized seven specialties to pre-operatively evaluate potential DBS candidates. METHODS: The University of Florida (UF) INFORM database was queried for PD patients who had DBS implantations performed at UF between January 2011 and February 2013. Records were reviewed to identify unintended hospitalizations, falls, and infections. Minor and major concerns or reservations from each specialty were previously documented and quantified. Clinical outcomes were assessed through the use of the Parkinson disease quality of life questionnaire (PDQ-39), and the Unified Parkinson's Disease Rating Score (UPDRS) Part III. RESULTS: A total of 164 cases were evaluated for possible DBS candidacy. There were 133 subjects who were approved for DBS surgery (81%) following interdisciplinary screening. There were 28 cases (21%) who experienced an unintended hospitalization within the first 12 months following the DBS operation. The patients identified during interdisciplinary evaluation with major or minor concerns from any specialty service had more unintended hospitalizations (93%) when compared to those without concerns (7%). When the preoperative "concern" shifted from "major" to "minor" to "no concerns," the rate of hospitalization decreased from 89% to 33% to 3%. A strong relationship was uncovered between worsened PDQ-39 at 12 months and increased hospitalization. CONCLUSIONS: Unintended hospitalizations and worsened QOL scores correlated with the number and severity of concerns raised by interdisciplinary DBS evaluations. The data suggest that detailed screenings by interdisciplinary teams may be useful for more than just patient selection. These evaluations may help to stratify risk for post-operative hospitalization and QoL outcomes.


Assuntos
Estimulação Encefálica Profunda , Hospitalização , Doença de Parkinson/fisiopatologia , Qualidade de Vida , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade
11.
Intern Med ; 54(12): 1543-6, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26073247

RESUMO

Guillain-Barré syndrome (GBS) is usually triggered by viral or bacterial infection. In addition, it was recently reported that infection with hepatitis E virus (HEV) also causes GBS. A 49-year-old man presented with acute-onset paralysis in all extremities and dysgeusia during an episode of acute hepatitis. Serological tests showed the presence of anti-HEV IgM antibodies and HEV-RNA in the serum. As an electrophysiological examination showed acute demyelinating polyradiculoneuropathy, the patient was diagnosed as HEV-associated GBS. Following the initiation of treatment with intravenous immunoglobulin, his paralysis and dysgeusia rapidly improved. This case suggests that HEV-associated GBS may rarely be complicated by dysgeusia.


Assuntos
Disgeusia/virologia , Síndrome de Guillain-Barré/imunologia , Vírus da Hepatite E/isolamento & purificação , Hepatite E/imunologia , Imunoglobulinas Intravenosas/uso terapêutico , Fatores Imunológicos/uso terapêutico , Paralisia/fisiopatologia , Doença Aguda , Síndrome de Guillain-Barré/diagnóstico , Síndrome de Guillain-Barré/tratamento farmacológico , Hepatite E/diagnóstico , Hepatite E/tratamento farmacológico , Vírus da Hepatite E/genética , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Paralisia/complicações , Paralisia/virologia , RNA Viral/sangue
12.
Clin Neurol Neurosurg ; 134: 110-5, 2015 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-25985062

RESUMO

BACKGROUND AND PURPOSE: The 9-item Wearing-off Questionnaire (WOQ-9) is a useful tool for screening of wearing-off. We performed a validation study of the Japanese version of the WOQ-9 (JWOQ-9) using a cross-sectional design in Japanese Parkinson's disease (PD) patients diagnosed with sporadic PD and treated with levodopa. METHODS: Subjects with severe dementia, uncontrolled psychiatric comorbidities, and previous PD neurosurgery were excluded. The wearing-off phenomenon was detected according to the JWOQ-9, and the results were compared with independent evaluations of wearing-off conducted by PD specialists blinded to the JWOQ-9 results. To validate the JWOQ-9, a sample size of at least 70 patients with wearing-off and 70 patients without wearing-off was required. Therefore, a total of 180 patients (101 patients with wearing-off and 79 patients without wearing-off) were enrolled. RESULTS: The sensitivity, specificity, positive predictive value, and negative predictive value of the JWOQ-9 were 94.1%, 39.2%, 66.4%, and 83.8%, respectively. Motor symptom questions demonstrated both moderate sensitivity (58.1-87.3%) and specificity (60.4-87.5%). In contrast, non-motor symptom questions demonstrated fair to moderate sensitivity (51.5-64.6%), with high specificity (80.0-94.1%). Like the original WOQ-9, the JWOQ-9 exhibits significant value for detecting possible wearing-off. CONCLUSIONS: The JWOQ-9 is a useful screening tool for detecting wearing-off of both motor and non-motor symptoms.


Assuntos
Antiparkinsonianos/uso terapêutico , Levodopa/uso terapêutico , Doença de Parkinson/tratamento farmacológico , Idoso , Estudos Transversais , Feminino , Humanos , Japão , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia , Inquéritos e Questionários , Traduções , Resultado do Tratamento
13.
PLoS One ; 10(12): e0145623, 2015.
Artigo em Inglês | MEDLINE | ID: mdl-26710099

RESUMO

OBJECTIVE: To investigate the relationship of our interdisciplinary screening process on post-operative unintended hospitalizations and quality of life. BACKGROUND: There are currently no standardized criteria for selection of appropriate Deep Brain Stimulation candidates and little hard data exists to support the use of any singular method. METHODS: An Essential Tremor cohort was selected from our institutional Deep Brain Stimulation database. The interdisciplinary model utilized seven specialties who pre-operatively screened all potential Deep Brain Stimulation candidates. Concerns for surgery raised by each specialty were documented and classified as none, minor, or major. Charts were reviewed to identify unintended hospitalizations and quality of life measurements at 1 year post-surgery. RESULTS: Eighty-six percent (44/51) of the potential screened candidates were approved for Deep Brain Stimulation. Eight (18%) patients had an unintended hospitalization during the follow-up period. Patients with minor or major concerns raised by any specialty service had significantly more unintended hospitalizations when compared to patients without concerns (75% vs. 25%, p < 0.005). The rate of hospitalization revealed a direct relationship to the "level of concern"; ranging from 100% if major concerns, 42% if minor concerns, and 7% if no concerns raised, p = 0.001. Quality of life scores significantly worsened in patients with unintended hospitalizations at 6 (p = 0.046) and 12 months (p = 0.027) when compared to baseline scores. No significant differences in tremor scores between unintended and non-unintended hospitalizations were observed. CONCLUSIONS: The number and level of concerns raised during interdisciplinary Deep Brain Stimulation screenings were significantly related to unintended hospitalizations and to a reduced quality of life. The interdisciplinary evaluation may help to stratify risk for these complications. However, data should be interpreted with caution due to the limitations of our study. Further prospective comparative and larger studies are required to confirm our results.


Assuntos
Estimulação Encefálica Profunda/efeitos adversos , Tremor Essencial/terapia , Idoso , Estudos de Coortes , Feminino , Hospitalização/estatística & dados numéricos , Humanos , Masculino , Pessoa de Meia-Idade , Seleção de Pacientes , Qualidade de Vida , Estudos Retrospectivos , Fatores de Risco , Resultado do Tratamento
14.
Neurotherapeutics ; 11(3): 475-84, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24867326

RESUMO

Major depressive disorder (MDD) is a widespread, severe, debilitating disorder that markedly diminishes quality of life. Medication is commonly effective, but 20-30 % of patients are refractory to medical therapy. The surgical treatment of psychiatric disorders has a negative stigma associated with it owing to historical abuses. Various ablative surgeries for MDD have been attempted with marginal success, but these studies lacked standardized outcome measures. The recent development of neuromodulation therapy, especially deep brain stimulation (DBS), has enabled controlled studies with sham stimulation and presents a potential therapeutic option that is both reversible and adjustable. We performed a systematic review of the literature pertaining to DBS for treatment-resistant depression to evaluate the safety and efficacy of this procedure. We included only studies using validated outcome measures. Our review identified 22 clinical research papers with 5 unique DBS approaches using different targets, including nucleus accumbens, ventral striatum/ventral capsule, subgenual cingulate cortex, lateral habenula, inferior thalamic nucleus, and medial forebrain bundle. Among the 22 published studies, only 3 were controlled trials, and 2, as yet unpublished, multicenter, randomized, controlled trials evaluating the efficacy of subgenual cingulate cortex and ventral striatum/ventral capsule DBS were recently discontinued owing to inefficacy based on futility analyses. Overall, the published response rate to DBS therapy, defined as the percentage of patients with > 50 % improvement on the Hamilton Depression Rating Scale, is reported to be 40-70 %, and outcomes were comparable across studies. We conclude that DBS for MDD shows promise, but remains experimental and further accumulation of data is warranted.


Assuntos
Encéfalo/fisiopatologia , Estimulação Encefálica Profunda/métodos , Transtorno Depressivo Maior/terapia , Humanos , Resultado do Tratamento
15.
J Neurol Sci ; 343(1-2): 206-10, 2014 Aug 15.
Artigo em Inglês | MEDLINE | ID: mdl-24928078

RESUMO

We herein report a 32-year-old woman with adult-onset reducing body myopathy (RBM) who had a mutation in the four-and-a-half LIM domain 1 gene (FHL1) and showed a marked asymmetrical involvement of sternocleidomastoid and trapezius muscles. At 30 years of age she noticed bilateral foot drop, and over the next two years developed difficulty raising her right arm. At 32 years of age she was admitted to our hospital for a diagnostic evaluation. Neurological examination showed moderate weakness and atrophy of her right sternocleidomastoid muscle, right trapezius muscle, and bilateral upper proximal muscles. There were severe weakness and atrophy of her bilateral tibialis anterior muscles. Her deep tendon reflexes were hypoactive in her upper extremities. Her serum creatine kinase level was mildly increased. Muscle biopsy specimens from the left tibialis anterior muscle revealed marked variation in fiber size, some necrotic or regenerating fibers, and reducing bodies. Gene analysis of FHL1 demonstrated a mutation: a heterozygous missense mutation of c.377G>A (p. C126T) in FHL1. Compared with previous adult-onset RBM cases harboring mutations in FHL1, our case was characterized by asymmetrical atrophy of the sternocleidomastoid and trapezius muscles.


Assuntos
Doenças Musculares/diagnóstico , Músculos do Pescoço/patologia , Músculos Superficiais do Dorso/patologia , Adulto , Feminino , Humanos , Peptídeos e Proteínas de Sinalização Intracelular/metabolismo , Proteínas com Domínio LIM/metabolismo , Imageamento por Ressonância Magnética , Proteínas Musculares/metabolismo
16.
Brain Nerve ; 64(11): 1347-51, 2012 Nov.
Artigo em Japonês | MEDLINE | ID: mdl-23131747

RESUMO

We report a case of primary central nervous system lymphoma (PCNSL) that presented with visual disturbance. A 76-year-old man developed decreased bilateral visual acuity. He was diagnosed with bilateral retrobulbar neuritis by an ophthalmologist. Treatment with high-dose corticosteroids was initiated and resulted in mild improvement of visual acuity. However, the patient gradually became apathetic and bradykinetic, experiencing difficulty performing the activities of daily living; he was admitted to our hospital because of this progressive illness. Neurological examination revealed bradyphrenia and bradykinesia with frontal lobe release signs, disorientation, and ideomotor apraxia. Magnetic resonance imaging showed abnormal signals in the bilateral basal ganglia and thalamus. Cerebrospinal fluid (CSF) examination revealed no pleocytosis and slightly elevated protein levels: ß2-microglobulin level was mildly increased, and IL-10 level in the CSF was markedly elevated. These findings suggested a diagnosis of PCNSL, and a brain biopsy specimen was obtained from the left caudate head. Pathological findings indicated diffuse large B-cell lymphoma. Nonspecific neurological manifestations and radiological findings can make the diagnosis of PCNSL difficult and result in delayed diagnosis. Visual impairment has been suggested as a feature of PCNSL, and an elevated IL-10 level in the CSF may be a useful marker for diagnosing PCNSL.


Assuntos
Neoplasias do Sistema Nervoso Central/líquido cefalorraquidiano , Neoplasias do Sistema Nervoso Central/patologia , Interleucina-10/líquido cefalorraquidiano , Linfoma de Células B/líquido cefalorraquidiano , Linfoma de Células B/patologia , Idoso , Biópsia , Encéfalo/patologia , Neoplasias do Sistema Nervoso Central/diagnóstico , Humanos , Linfoma de Células B/diagnóstico , Imageamento por Ressonância Magnética , Masculino
17.
Clin Neurol Neurosurg ; 114(10): 1308-11, 2012 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-22516415

RESUMO

OBJECTIVE: We studied the effect of anti-cholinergic therapy on axial symptoms that show a tendency to worsen over time after deep brain stimulation of the subthalamic nucleus (STN-DBS) in patients with Parkinson's disease (PD). PATIENTS AND METHODS: We conducted a prospective study of 20 consecutive patients treated with the anti-cholinergic agent trihexyphenidyl after bilateral STN-DBS and assessed the effect of anti-cholinergic therapy on parkinsonism 1 month after its initiation using the Unified Parkinson's Disease Rating Scale (UPDRS). RESULTS: After a mean post-operative follow-up period of 22.3 months, the scores of axial symptoms on UPDRS part II (ADL score) and part III (motor score) deteriorated by 87% and 54% (baseline), respectively, compared with the pre-operative scores (P < 0.001 for both comparisons). After adding trihexyphenidyl to dopaminergic medication with stimulation, the scores of axial symptoms on UPDRS part II and part III improved from baseline by 33% and 39%, respectively (P < 0.001 for both comparisons). CONCLUSIONS: Our findings demonstrated that the anti-cholinergic agent trihexyphenidyl shows positive effect for a patient population developing deterioration of axial symptoms after STN-DBS. The results in the present study may provide insights into the mechanism of emergence or progression of axial symptoms in patients with PD after STN-DBS.


Assuntos
Antagonistas Colinérgicos/uso terapêutico , Estimulação Encefálica Profunda/métodos , Doença de Parkinson/tratamento farmacológico , Núcleo Subtalâmico , Triexifenidil/uso terapêutico , Atividades Cotidianas , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/terapia , Estudos Prospectivos , Resultado do Tratamento
18.
Brain Nerve ; 63(5): 503-7, 2011 May.
Artigo em Japonês | MEDLINE | ID: mdl-21515931

RESUMO

We report a case of malignant catatonia initially diagnosed as neuroleptic malignant syndrome (NMS) that responded successfully to diazepam administration. A 29-year-old man with mental retardation was admitted to our hospital because of high fever, muscle pain, and consciousness disturbance. Fifteen days before admission, he had developed muscle pain and weakness in his legs. He presented with fever, tachycardia, tachypnea, elevated blood pressure, excessive sweating, and neurological findings of lethargy and severe muscle rigidity in the neck and extremities. Laboratory findings included elevated serum creatine phosphokinase (CPK) level. His clinical features and the laboratory test results fulfilled the diagnostic criteria for NMS. He was treated for NMS with dantrolene sodium and bromocriptine mesylate for 2 weeks; however, there was no improvement. Therefore, treatment was changed to diazepam administration because of suspected malignant catatonia. One week after initiation of diazepam administration, his symptoms gradually improved, and the serum CPK level normalized. The diagnosis of malignant catatonia was confirmed because treatment with diazepam was dramatically effective, whereas the initial treatment for NMS was not beneficial. The clinical presentation of malignant catatonia is similar to that of NMS. Indeed, some authors have described NMS as a variant of malignant catatonia. If treatment is refractory in cases of NMS, malignant catatonia may be suspected, and changing treatment to diazepam administration may be useful.


Assuntos
Catatonia/diagnóstico , Catatonia/tratamento farmacológico , Diazepam/administração & dosagem , Relaxantes Musculares Centrais/administração & dosagem , Adulto , Biomarcadores/sangue , Creatina Quinase/sangue , Diagnóstico Diferencial , Humanos , Masculino , Síndrome Maligna Neuroléptica , Resultado do Tratamento
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