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A case of teratoma of the pineal region in a 10-year-old boy is reported. Magnetic resonance imaging allowed to stablish the diagnosis and accurately determine the extent of the tumor. Partial resection by parieto-occipital interhemispheric approach was performed.  相似文献   

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Introduction

Alexander disease (AxD) is a type of leukodystrophy. Its pathological basis, along with myelin loss, is the appearance of Rosenthal bodies, which are cytoplasmic inclusions in astrocytes. Mutations in the gene coding for GFAP have been identified as a genetic basis for AxD. However, the mechanism by which these variants produce the disease is not understood.

Development

The most widespread hypothesis is that AxD develops when a gain of function mutation causes an increase in GFAP. However, this mechanism does not explain myelin loss, given that experimental models in which GFAP expression is normal or mutated do not exhibit myelin disorders. This review analyses other possibilities that may explain this alteration, such as epigenetic or inflammatory alterations, presence of NG2 (+) – GFAP (+) cells, or post-translational modifications in GFAP that are unrelated to increased expression.

Conclusions

The different hypotheses analysed here may explain the myelin alteration affecting these patients, and multiple mechanisms may coexist. These theories raise the possibility of designing therapies based on these mechanisms.  相似文献   

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IntroductionMedication overuse headache is a secondary headache in which the regular or frequent use of analgesics can increase the frequency of the episodes, causing the transition from episodic to chronic headache. The prevalence of medication overuse headache is approximately 1-2%, with higher rates among women aged 30-50 years and with comorbid psychiatric disorders such as depression or anxiety, or other chronic pain disorders. It is important to be familiar with the management of this disease. To this end, the Spanish Society of Neurology's Headache Study Group has prepared a consensus document addressing this disorder.DevelopmentThese guidelines were prepared by a group of neurologists specialising in headache after a systematic literature review and provides consensus recommendations on the proper management and treatment of medication overuse headache. The treatment of medication overuse headache is often complex, and is based on 4 fundamental pillars: education and information about the condition, preventive treatment, discontinuation of the drug being overused, and treatment for withdrawal symptoms. Follow-up of patients at risk of recurrence is important.ConclusionsWe hope that this document will be useful in daily clinical practice and that it will update and improve understanding of medication overuse headache management.  相似文献   

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IntroductionChronic exposure to low doses of ozone causes oxidative stress and loss of regulation of the inflammatory response, leading to progressive neurodegeneration.ObjectiveWe studied the effect of chronic exposure to low doses of ozone on IL-17A concentration and expression in neurons, microglia, astrocytes, and T cells in the rat hippocampus.MethodsWe used 72 Wistar rats, divided into 6 groups (n = 12): a control group (no ozone exposure) and 5 groups exposed to ozone (0.25 ppm, 4 h daily) for 7, 15, 30, 60, and 90 days. We processed 6 rats from each group to quantify IL-17A by ELISA; the remaining 6 were processed for immunohistochemistry (against IL-17A and GFAP, Iba1, NeuN, and CD3).ResultsThe ELISA study data showed a significant increase in IL-17A concentrations in the 7-, 15-, 30-, and 60-day exposure groups, with regard to the control group (P < .05). Furthermore, they indicate that hippocampal neurons were the cells showing greatest immunoreactivity against IL-17A between 60 and 90 days of exposure to ozone; we also observed an increase in activated astrocytes in the 30- and 60-day exposure groups.ConclusionExposure to ozone in rats induces an increase in IL-17A expression, mainly in hippocampal neurons, accompanied by hippocampal astrocyte activation during chronic neurodegeneration, similar to that observed in Alzheimer disease in humans.  相似文献   

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IntroductionThe management of epilepsy during pregnancy requires optimal seizure control, avoiding the potential teratogenic effects of antiepileptic drugs.ObjectivesThis study aims to describe the clinical characteristics and perinatal outcomes of pregnant patients with epilepsy; to analyse the factors associated with seizures during pregnancy; to describe the most commonly used antiepileptic drugs in these patients; and to analyse changes in treatment regimens in 2 periods, 2000-2010 and 2011-2018.MethodsWe conducted a prospective observational study of patients with epilepsy who reported their pregnancy between 2000 and 2018. Patients were evaluated in the first and second trimesters of pregnancy, after delivery, and at one year. Data were collected on demographic variables, epilepsy, and perinatal and obstetric variables.ResultsA total of 101 pregnancies were included. Patients’ mean age was 32.6 years; 55.4% had focal epilepsy, 38.6% had generalised epilepsy, and 5.9% had undetermined epilepsy. We recorded 90 live births, 9 miscarriages, and 5 cases of congenital malformations, 4 of which were born to women who received valproate monotherapy. Forty patients (39.6%) presented seizures, with 16 (40%) presenting generalised tonic-clonic seizures. The variables associated with seizures during pregnancy were poor seizure control in the year prior to pregnancy (66.7% vs. 15.1%; P < .001), treatment with 2 or more antiepileptic drugs (30% vs. 14.8%; P < .001), and untreated epilepsy (25% vs. 0%; P < .001). The antiepileptic drugs most widely used in monotherapy were lamotrigine (n = 19; 27.1%), valproate (n = 17; 24.2%), and levetiracetam (n = 12; 17.1%). In the most recent period (2011-2018), we observed a greater proportion patients receiving monotherapy (81.5%, vs. 55.3%), as well as a decrease in the use of carbamazepine (2.3%, vs. 23.1%) and valproate (20.5%, vs. 30.8%); and a marked increase in the use of levetiracetam (27.3%, vs. 0%).ConclusionsThe factors associated with the presence of seizures during pregnancy were previous poor seizure control, treatment with 2 or more antiepileptic drugs, and lack of treatment during pregnancy. The most commonly used drugs were lamotrigine, valproate, and levetiracetam, with an increase in levetiracetam use and a decrease in valproate use being observed in the later period (2011-2018).  相似文献   

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Lipomatous ganglioneuromas are a rare variant of ganglioneuromas characterized by a mature adipocytic component admixed with a conventional ganglioneuroma component. We present the case of a 34 year old patient with a paravertebral right lesion L1-L4 with intraspinal extension and secondary neurological deficit, who underwent surgery in our hospital. The pathological anatomy showed a yellowish encapsulated neoplasm, which under microscopic evaluation showed areas of ganglioneuroma admixed with areas of mature fat.In the follow up, the patient was asymptomatic, had recovered paresis in the right lower extremity and in the last image control did not present data of lesion recurrence.Fewer than 10 cases of lipomatous ganglioneuromas have been reported in the literature, being this the first paravertebral case wih intraspinal extension and with neurological deficit, hence the interest of this work.  相似文献   

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Background and objectiveTo study the prognostic value of the resistance to the cerebrospinal fluid outflow (Rout) obtained in the lumbar infusion test in idiopathic normal pressure hydrocephalus (iNPH), as well as the pulse pressure amplitudes in the different periods of the test and other new variables extracted by Neuropicture® software.Material and methodsPatients with ?probable iNPH? who underwent a lumbar infusion test were retrospectively revised. The positive predictive values (PPV) of the cutoff point of the best prognostic accuracy of the Rout, the basal pulse pressure amplitude (AMP0), the pulse pressure amplitude during the first 10 minutes (AMP10min), the plateau pulse pressure amplitude (AMPmes), the Rout pulse pressure amplitude (AMPRout), the time to reach the plateau (T), and the slope until reaching the plateau were determined. Patients were categorized either as responders or non-responders.ResultsThe study included 64 responders patients and 16 non-responders patients. The PPV of Rout > 15 mmHg/ml/min was 91.7%; AMP0 > 2.34 mmHg: 91.3%; AMP10min > 4.34 mmHg: 83.3%; AMPmes > 12.44 mmHg: 84.6%; AMPRout > 6.34 mmHg: 85%; T < 634 seconds: 86.7%; P > 0.040 mmHg/sec: 96.3%.ConclusionsRout is a valid criterion to indicate a ventricular shunt. Pulse pressure amplitudes in the different periods of the lumbar infusion test, in addition to T and P, are other variables whose positivity is indicative of shunt response and should be considered in the diagnostic protocol of the iNPH.  相似文献   

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IntroductionGliosarcoma is a rare neoplasm of the central nervous system, similar to glioblastoma multiforme. In contrast to glioblastoma, it is characterised by its propensity for extracranial metastasis (11% of the cases) due to its sarcomatous component. Intramedullary metastasis from primary gliosarcoma is extremely rare.Case reportA patient who had surgery for primary cerebral gliosarcoma developed paraparesis during the course of the disease. A magnetic resonance image showed an intramedullary spinal cord metastasis requiring surgical treatment. This article reviews the literature on intramedullary spinal cord metastasis from gliosarcoma, and highlights the characteristics, treatment and overall survival.ConclusionsOnly 4 cases of intramedullary gliosarcoma metastasis are described in the literature. This extremely rare entity should be suspected with the onset of spinal cord symptoms during the course of primary cerebral gliosarcoma.  相似文献   

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IntroductionThere is little control of cardiovascular (CV) risk factors in secondary prevention after an ischaemic stroke, in part due to a lack of adherence to treatment. The CV polypill may contribute to proper treatment adherence, which is necessary for CV disease prevention. This study aimed to establish how and in what cases the CV polypill should be administered.MethodsA group of 8 neurologists drafted consensus recommendations using structured brainstorming and based on their experience and a literature review.ResultsThese recommendations are based on the opinion of the participating experts. The use of the CV polypill is beneficial for patients, healthcare professionals, and the health system. Its use is most appropriate for atherothrombotic stroke, lacunar stroke, stroke associated with cognitive impairment, cryptogenic stroke with CV risk factors, and silent cerebrovascular disease. It is the preferred treatment in cases of suspected poor adherence, polymedicated patients, elderly people, patients with polyvascular disease or severe atherothrombosis, young patients in active work, and patients who express a preference for the CV polypill. Administration options include switching from individual drugs to the CV polypill, starting treatment with the CV polypill in the acute phase in particular cases, use in patients receiving another statin or an angiotensin ii receptor antagonist, or de novo use if there is suspicion of poor adherence. Nevertheless, use of the CV polypill requires follow-up on the achievement of the therapeutic objectives to make dose adjustments.ConclusionsThis document is the first to establish recommendations for the use of the CV polypill in cerebrovascular disease, beyond its advantages in terms of treatment adherence.  相似文献   

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Introduction

The self-administered Leeds Assessment of Neuropathic Symptoms and Signs (S-LANSS) scale is a tool designed to identify patients with pain with neuropathic features.

Objective

To assess the validity and reliability of the Spanish-language version of the S-LANSS scale.

Methods

Our study included a total of 182 patients with chronic pain to assess the convergent and discriminant validity of the S-LANSS; the sample was increased to 321 patients to evaluate construct validity and reliability. The validated Spanish-language version of the ID-Pain questionnaire was used as the criterion variable. All participants completed the ID-Pain, the S-LANSS, and the Numerical Rating Scale for pain. Discriminant validity was evaluated by analysing sensitivity, specificity, and the area under the receiver operating characteristic curve (AUC). Construct validity was assessed with factor analysis and by comparing the odds ratio of each S-LANSS item to the total score. Convergent validity and reliability were evaluated with Pearson's r and Cronbach's alpha, respectively.

Results

The optimal cut-off point for S-LANSS was ≥ 12 points (AUC = .89; sensitivity = 88.7; specificity = 76.6). Factor analysis yielded one factor; furthermore, all items contributed significantly to the positive total score on the S-LANSS (P < .05). The S-LANSS showed a significant correlation with ID-Pain (r = .734, α = .71).

Conclusion

The Spanish-language version of the S-LANSS is valid and reliable for identifying patients with chronic pain with neuropathic features.  相似文献   

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IntroductionDesigns for determining nociceptive response in rodents are of great use in neurology and experimental neuroscience. Immersing mice's tails in warm water is one of the most widely used procedures to evaluate this response; however, a wide range of temperatures are used in different studies. Knowing the temperature that produces a powerful nociceptive response in the tail of BALB/c mice is extremely useful.MethodsEight 2-month-old male BALB/c mice were used. A 14-cm high beaker was filled with water up to 13 cm. The animals’ tails were immersed in the container with a starting temperature of 36 °C. The water temperature was raised in 1 °C increments until we identified the temperatures that produced nociceptive responses. That response was determined by counting the time taken before the mouse shook its tail to remove it from the water.ResultsSix of the 8 mice began shaking their tails at the temperature of 51 °C. All animals removed their tails from the water at the temperatures of 54 °C, 55 °C, and 56 °C, taking a mean time of 8.54, 7.99, and 5.33 seconds, respectively. ANOVA applied to the response times for each of the 3 temperatures indicated revealed a value of F=2.8 (P=.123).ConclusionsThe response time was statistically similar for the temperatures of 54 °C, 55 °C, and 56 °C; however, the data were less dispersed for the latter temperature.  相似文献   

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Introduction

Our aim is to assess the burden on caregivers of patients with Parkinson's disease treated with deep brain stimulation (DBS) compared to those caring for patients at advanced stages and undergoing other treatments. We have also assessed the variables associated with presence of caregiver overload.

Material and methods

We included consecutive patients with Parkinson's disease treated with DBS. Our control group included patients in advanced stages of Parkinson's disease undergoing other treatments. Patients were assessed with the following scales: UPDRS-II, UPDRS-III, UPDRS-IV, Hoehn and Yahr, Schwab & England, Barthel, PDQ-39, MoCA, Apathy Evaluation Scale, HADS, and the abbreviated QUIP. Caregiver burden was evaluated with the Zarit caregiver burden interview and their moods were assessed with the HADS scale.

Results

We included 11 patients treated with DBS and 11 with other treatments. For patients treated with DBS, we observed a better quality of life according to the PDQ-39 questionnaire (P = .028), and a lower score on the HADS anxiety subscale (P = .010). Caregiver overload was observed in 54.5% of the caregivers of patients in both groups (P = 1.000); Zarit scores were similar (P = .835). Caregiver overload was associated with higher scores on the caregiver's Apathy Evaluation Scale (P = .048) and on the HADS anxiety subscale (P = .006).

Conclusion

According to our results, treatment with DBS is not associated with lower caregiver burden. Apathy in patients and anxiety in caregivers are factors associated with the appearance of overload.  相似文献   

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Spinal arteriovenous malformations are rare diseases with a low prevalence and a complex diagnosis that usually requires the several neuroscience disciplines collaboration. Multidisciplinary approach requires fluid communication, favorable work environment and a correct social relationship, thus avoiding the conflict of interest appearance.We reported a 31 years old female referred to our department with progressive asymmetric spastic paraparesia for 10 months of evolution and occasional bladder dysfunction. With the diagnosis of a type IV arteriovenous malformation, a scheduled embolization was performed resulting in a massive subarachnoid hemorrhage due to the ASA laceration requiring an emergency bifrontal craniectomy. We discuss the neurosurgeońs role in complications during endovascular spinal vascular pathology treatment.  相似文献   

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Clear cell meningioma is a rare morphological form of meningioma. This case report describes a very rare case of multifocal clear cell meningioma in the sacral and lumbar spine. The patient was a 20-year-old female who presented back pain. Magnetic resonance imaging (MRI) revealed a large tumour at L4 to S2 level associated with two, smaller, satellite tumours at the lumbar level. An intra-extradural tumour was surgically removed and the pathological diagnosis of clear cell meningioma was confirmed. Both satellite lesions were also resected and their histopathological diagnosis was the same.Therefore, clear cell meningioma should be considered in young patients with suggested meningioma in the lumbar spine, as well as the possibility of multifocal origin and postoperative recurrence.  相似文献   

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