Cerebellar cognitive affective syndrome in Machado Joseph disease: core clinical features.

The cerebellum is no longer considered a purely motor control device, and convincing evidence has demonstrated its relationship to cognitive and emotional neural circuits. The aims of the present study were to establish the core cognitive features in our patient population and to determine the presence of Cerebellar Cognitive Affective Syndrome (CCAS) in this group. We recruited 38 patients with spinocerebellar ataxia type 3 (SCA3) or Machado­Joseph disease (MJD)-SCA3/MJD and 31 controls. Data on disease status were recorded (disease duration, age, age at onset, ataxia severity, and CAG repeat length). The severity of cerebellar symptoms was measured using the International Cooperative Ataxia Rating Scale and the Scale for the Assessment and Rating of Ataxia. The neuropsychological assessment consisted of the Mini-Mental State Examination, Clock Drawing Test, Wechsler Adult Intelligence Scale, Rey­Osterrieth Complex Figure, Wisconsin Card Sorting Test, Stroop Color­Word Test, Trail-Making Test, Verbal Paired Associates, and verbal fluency tests. All subjects were also submitted to the Hamilton Anxiety Scale and Beck Depression Inventory. After controlling for multiple comparisons, spatial span, picture completion, symbol search, Stroop Color­Word Test, phonemic verbal fluency, and Trail-Making Tests A and B were significantly more impaired in patients with SCA3/MJD than in controls. Executive and visuospatial functions are impaired in patients with SCA3/MJD, consistent with the symptoms reported in the CCAS. We speculate on a possible role in visual cortical processing degeneration and executive dysfunction in our patients as a model to explain their main cognitive deficit.

Effects of remote ischemic conditioning on cognitive performance: A systematic review.

The aging process leads to subtle decline in cognitive function, and in some overt dementia. Like physical activity Remote Ischemic Conditioning (RIC) may ameliorate these changes on cognitive impairment in humans. The purpose of this study was to compared the effects of single, repeated short-term and long-term treatment RIC, and analyze its effect registered as immediate vs. long-term on cognitive performance in humans. This systematic review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses (PRISMA) statement and was registered with PROSPERO, number (CRD42021285668). A systematic review was conducted to identify relevant studies through six healthcare science databases (Cochrane, PubMed, EMBASE, EBSCO, Scopus, and Web of Science) up to December 2021. Eligibility criteria included (1) a study sample of participants aged ≥18 years, (2) post-intervention changes on cognitive performance in humans, and (3) this systematic review included only randomized controlled trials of RIC in humans. The quality of the included studies was assessed by GRADEpro tool. A total of 118 articles were initially identified, 35 of which met the inclusion criteria. Based on title/abstract, age and RIC protocol, 14 articles were included in this review: 5 studies investigated the immediate and long-term effect of a single RIC (n = 370 patients), 4 studies examined intermittent short-term RIC (n = 174 patients) and 5 studies evaluated repeated long-term RIC (n = 228 patients). A single pre-operative RIC treatment had an immediate effect that disappeared at one week. Short-term RIC showed either a positive or no effects on cognitive function. The majority of studies examining long-term RIC treatment showed improvements in cognitive performance, particularly in very old adults and older patients with cognitive impairments. Single RIC treatment did not show any persisting effect on cognition. However, repeated short term RIC showed some improvement and long-term RIC may improve cognitive performance after stroke or enhance neuropsychological tests in patients diagnosed with vascular dementia. The mixed results might be explained by different RIC treatment protocols and populations investigated.

Combined assessment by transcranial sonography and Sniffin' Sticks test has a similar diagnostic accuracy compared to brain SPECT for Parkinson's disease diagnosis.

OBJECTIVES: This study aimed to investigate the accuracy of TCS combined with the Sniffin' sticks olfactory test (SST-16) for differentiation between idiopathic PD patients and healthy controls compared to that of 99 mTc-TRODAT-1 SPECT (TRODAT). METHODS: A cross-sectional study included PD patients diagnosed in accordance with United Kingdom PD Society Brain Bank criteria and a control group of age and sex- matched healthy subjects. All patients were examined by a movement disorder specialist and underwent brain SPECT using TRODAT, TCS examination and SST-16 test. Receiver Operating Characteristic (ROC) curves were used to calculate cut-off points for TCS, striatal TRODAT binding potentials and SST-16. The area under the ROC curve determined the diagnostic accuracy of the method. RESULTS: Twenty patients with PD (13 males and 7 females) and nine healthy subjects were included. Median age of PD onset was 56.5 years with median disease duration of 5 years. A larger substantia nigra (SN) echogenic area was observed in the PD group (p = 0.013). SN echogenic area cut-off point of 0.22 cm2 was obtained from a ROC curve for PD diagnosis. Considering this cut-off point, TCS diagnostic accuracy was estimated at 79.2% for PD diagnosis. The cut-off value of 0.90 for striatal TRODAT binding was associated with 99% diagnostic accuracy for the diagnosis of PD. SST-16 values equal or less than 9 points showed an 85.8% diagnostic accuracy for PD diagnosis. Combination of both SST-16 and TCS improved the diagnostic accuracy to 95% for PD diagnosis. CONCLUSION: Combined SST-16 and TCS assessment was indicated as accurate for distinguishing PD patients from healthy controls. The diagnostic accuracy of TCS combined with SST-16 for differentiation between idiopathic PD patients and healthy controls is similar to that of SPECT TRODAT.

Sleep disorders in machado-joseph disease: frequency, discriminative thresholds, predictive values, and correlation with ataxia-related motor and non-motor features.

Sleep disorders are common complaints in patients with neurodegenerative diseases such as spinocerebellar ataxia type 3 (SCA3) or Machado-Joseph disease (MJD)--SCA3/MJD. We evaluated the frequency of sleep disorders in SCA3/MJD patients against controls matched by age and gender, and correlated data with demographic and clinical variables. The main sleep disorders evaluated were rapid eye movement (REM) sleep behavior disorder (RBD), restless leg syndrome (RLS), and excessive daytime sleepiness (EDS). We recruited 40 patients with clinical and molecular-proven SCA3/MJD and 38 controls. We used the following clinical scales to evaluate our primary outcome measures: RBD Screening Questionnaire, International RLS Rating Scale, and Epworth Sleepiness Scale. To evaluate ataxia-related motor and non-motor features, we applied the International Cooperative Ataxia Rating Scale, the Scale for the Assessment and Rating of Ataxia, and the Unified Parkinson's Disease Rating Scale part III. Psychiatric manifestations were tested with the Hamilton Anxiety Scale, and Beck Depression Inventory. The frequency of RBD and RLS were significantly higher in the SCA3/MJD group than in the control group (p < 0.001). There was no difference between both groups with regard to EDS. The accuracy of RDBSQ to discriminate between cases and controls was considered the best area under the ROC curve (0.86). Within-SCA3/MJD group analysis showed that anxiety and depression were significantly correlated with RDB, but not with RLS. Additionally, depression was considered the best predictive clinical feature for RDB and EDS.

Burnout syndrome and engagement among critical care providers: a cross-sectional study. / Síndrome de burnout e engajamento em profissionais de saúde: um estudo transversal.

OBJECTIVE: To evaluate the frequency of severe burnout syndrome among critical care providers and to correlate it with work engagement. METHODS: A self-administered survey including the Maslach Burnout Inventory, Depression Anxiety and Stress Scales, and Gallup questionnaire was distributed. All analyses were stratified by setting (intensive care unit or step-down unit) and by professional group (nurses versus physicians versus physiotherapists). RESULTS: Between February 2017 and June 2017, 206 out of 325 invited professionals (63.4%) answered the questionnaires. Of these, 55 were physicians (26.7%), 88 were physiotherapists (42.7%) and 63 were nurses (30.6%). The frequency of severe burnout was 34.3% (27.9 - 41.4%), and no difference was found between professional groups or settings. The frequency of severe or very severe cases of depression, anxiety or stress was 12.9%, 11.4% and 10.5%, respectively. The median (interquartile range) score observed on the Gallup questionnaire was 41 (34 - 48), and no differences were found between professional groups or settings. There was a negative correlation between burnout and work engagement (r = -0.148; p = 0.035). CONCLUSION: There is a high frequency of severe burnout among critical care providers working in the intensive care unit and step-down unit. There was a negative correlation between burnout and work engagement.

OBJETIVO: Avaliar a frequência de síndrome de burnout grave em profissionais de terapia intensiva e correlacioná-la com o engajamento com o trabalho. MÉTODOS: Foi distribuído um questionário autoaplicável que incluía o Inventário de Burnout de Maslach, a Escala de Depressão Ansiedade e Estresse e o questionário Gallup. Todas as análises foram estratificadas por local de trabalho (unidade de terapia intensiva ou unidade semi-intensiva) e por grupo profissional (enfermeiros versus médicos versus fisioterapeutas). RESULTADOS: Entre fevereiro de 2017 e junho de 2017, 206 dos 325 profissionais convidados (63,4%) responderam aos questionários. Destes, 55 eram médicos (26,7%), 88 eram fisioterapeutas (42,7%) e 63 eram enfermeiros (30,6%). A frequência de burnout grave foi de 34,3% (27,9 - 41,4%), e não se identificaram diferenças entre os grupos profissionais ou locais de trabalho. A frequência de casos graves ou muito graves de depressão, ansiedade ou estresse foi de 12,9%, 11,4% e 10,5%, respectivamente. O escore mediano (intervalo interquartil) observado pelo questionário Gallup foi 41 (34 - 48), e não se observaram diferenças entre os grupos profissionais ou locais de trabalho. Houve correlação negativa entre burnout e engajamento com o trabalho (r = -0,148; p = 0,035). CONCLUSÃO: A frequência de burnout grave foi elevada entre os profissionais de saúde que trabalham na unidade de terapia intensiva e na unidade semi-intensiva. Existe uma correlação negativa entre burnout e engajamento com o trabalho.

The accuracy of hippocampal volumetry and glucose metabolism for the diagnosis of patients with suspected Alzheimer's disease, using automatic quantitative clinical tools.

The hippocampus is one of the earliest sites involved in the pathology of Alzheimer's disease (AD). Therefore, we specifically investigated the sensitivity and specificity of hippocampal volume and glucose metabolism in patients being evaluated for AD, using automated quantitative tools (NeuroQuant - magnetic resonance imaging [MRI] and Scenium - positron emission tomography [PET]) and clinical evaluation.This retrospective study included adult patients over the age of 45 years with suspected AD, who had undergone fluorodeoxyglucose positron emission tomography-computed tomography (FDG-PET-CT) and MRI. FDG-PET-CT images were analyzed both qualitatively and quantitatively. In quantitative volumetric MRI analysis, the percentage of the total intracranial volume of each brain region, as well as the total hippocampal volume, were considered in comparison to an age-adjusted percentile. The remaining brain regions were compared between groups according to the final diagnosis.Thirty-eight patients were included in this study. After a mean follow-up period of 23 ±â€Š11 months, the final diagnosis for 16 patients was AD or high-risk mild cognitive impairment (MCI). Out of the 16 patients, 8 patients were women, and the average age of all patients was 69.38 ±â€Š10.98 years. Among the remaining 22 patients enrolled in the study, 14 were women, and the average age was 67.50 ±â€Š11.60 years; a diagnosis of AD was initially excluded, but the patients may have low-risk MCI. Qualitative FDG-PET-CT analysis showed greater accuracy (0.87), sensitivity (0.76), and negative predictive value (0.77), when compared to quantitative PET analysis, hippocampal MRI volumetry, and specificity. The positive predictive value of FDG-PET-CT was similar to the MRI value.The performance of FDG-PET-CT qualitative analysis was significantly more effective compared to MRI volumetry. At least in part, this observation could corroborate the sequential hypothesis of AD pathophysiology, which posits that functional changes (synaptic dysfunction) precede structural changes (atrophy).

Moving ear syndrome: the role of botulinum toxin.

We report a 30-year-old man with moving ear syndrome caused by focal myoclonic jerks of the right temporal muscle. This focal myoclonus would disappear while the patient was sleeping, swallowing, or speaking. He was treated with botulinum toxin type A with a favorable outcome. Previous reports of this condition and possible therapeutic approaches are discussed.

Genetic and environmental findings in early-onset Parkinson's disease Brazilian patients.

Parkinson's disease (PD) etiology has been attributed both to genetic and environmental factors. In this study, we investigated Brazilian early-onset PD (EOPD) patients for mutations in PARK2 and PARK8, exposure to environmental factors and possible correlations between PARK2 polymorphisms, environmental exposure, and disease age of onset. We enrolled 72 EOPD index patients and 81 healthy volunteers. Both groups were investigated for environmental exposure. EOPD patients were screened for PARK2 and PARK8 mutations. PARK2 coding polymorphisms Ser167Asn and Val380Leu were investigated in both groups. Mutations were present in 18% of the patients and in 32% of those with a positive family history. PARK2 mutations represented 12.5% and PARK8 mutations accounted for 5.5% of the mutations. A novel PARK2 mutation (D53X) was identified in 2 patients. A positive correlation was found between EOPD and well water drinking. In patients exposed to well water, a later age of onset was observed for those who carried at least one PARK2 380Leu allele. PARK2 mutations have an important role in EOPD Brazilian patients and PARK8 might be the second most important disease causing gene in this group. Well water drinking exposure represents a risk factor for EOPD and the PARK2 coding polymorphism Val380Leu might be interacting with environmental factors acting as a disease modifier.

Bilateral hemifacial spasm: a series of 10 patients with literature review.

Bilateral hemifacial spasm (HFS) is a rare movement disorder posing diagnostic doubt with other facial dyskinesias. In this report, we describe clinical, radiological and therapeutic features of 10 patients with bilateral HFS. The prevalence of bilateral HFS in our sample was of 2.6%. Clinical characteristics of our patients did not differ from the classic features of unilateral cases. The mean latency for contralateral facial nerve involvement was of 33.3 months. In only one case a vascular abnormality was seen. We conclude that bilateral HFS is rare and that clinical differentiation with other facial dyskinesias should be promptly made to introduce appropriate therapy.

Young onset Hemifacial Spasm in patients with Chiari type I malformation.

Hemifacial spasm (HFS) resulting from Chiari type I malformation (CIM) is rare. We retrospectively evaluated five patients with CIM and HFS among a series of 103 subjects. The frequency of HFS associated to CIM was of 4.85%. The clinical profile did not differ from the classical primary cases except for young-onset development of facial spasms in patients with CIM. Three patients were treated with BTX-A injections with favorable outcome. Although rare HFS may be associated with CIM especially in young subjects with peculiar phenotypic characteristics (short neck). Moreover, BTX may be an alternative to posterior fossa decompression in selected cases.

Chorea-ballism as a manifestation of decompensated type 2 diabetes mellitus.

Chorea and ballism are movement disorders that result from a variety of conditions. Hyperglycemia is an unusual recognized cause of these movement disorders. We report 3 cases of new-onset chorea-ballism induced by nonketotic hyperglycemia in elderly patients, highlighting that chorea may be the first manifestation of undiagnosed decompensated diabetes mellitus.

Clinical assessment of patients with primary and postparalytic hemifacial spasm: a retrospective study.

OBJECTIVE: To compared the clinical features of 373 patients with primary and postparalytic hemifacial spasm (HFS). METHOD: Data analyzed were gender, ethnicity, age at symptom onset, disease duration, affected side, distribution of facial spasm at onset, hypertension, family history of HFS, previous history of facial palsy and latency between facial palsy and HFS. RESULTS: The prevalence of patients with Asian origin was similar in both groups such as female/male ratio, mean age at symptom onset, disease duration, affected side and distribution at onset of facial twitching. The upper left side of the face was the main affected region at onset. Almost 40% of the patients in both groups had hypertension. A prevalence of vascular abnormalities on the posterior fossa was seen in 7% and 12.5% of both groups. CONCLUSION: The clinical profile and radiological findings of patients with primary and postparalytic HFS are similar. The association of hypertension with vascular abnormalities and HFS was not frequent.

Peroneal nerve palsy due to compartment syndrome after facial plastic surgery.

A 25-year-old white man, right after bilateral rhytidoplasty, presented with agitation, necessitating use of haloperidol. Some hours after, he developed severe pain in his legs and a diagnosis of neuroleptic malignant syndrome (NMS) was considered. Even with treatment for NMS he still complained of pain. A diagnosis of lower limb compartment syndrome (CS) was done only 12 hours after the initial event, being submitted to fasciotomy in both legs, disclosing very pale muscles, due to previous ischemia. This syndrome was not explained only by facial surgery, his position and duration of the procedure. It can be explained by a sequence of events. He had a history of pain in his legs during physical exercises, usually seen in chronic compartment syndrome. He used to take anabolizant and venlafaxine, not previously related, and the agitation could be related to serotoninergic syndrome caused by interaction between venlafaxine and haloperidol. Rhabdomyolysis could lead to oedema and ischemia in both anterior leg compartment. This report highlights the importance of early diagnosis of compartment syndrome, otherwise, even after fasciotomy, a permanent disability secondary to peripheral nerve compression could occur.

Hemifacial spasm in a patient with neurofibromatosis and Arnold-Chiari malformation: a unique case association.

BACKGROUND: The association of hemifacial spasm (HFS), Chiari type I malformation (CIM) and neurofibromatosis type 1 (NF1) has not been described yet. CASE REPORT: We report the case of a 31-year-old woman with NF1 who developed a right-sided HFS. On magnetic resonance imaging (MRI) a CIM was seen without syringomyelia. The patient has been successfully treated with botulinum toxin type A injections for 5 years without major side effects. CONCLUSION: Clinical features of HFS, CMI and NF1 are highlighted together with their possible relationship. Also, therapeutic strategies are also discussed.

Cerebellar degeneration and immune thrombocytopenic purpura associated with human immunodeficiency virus infection (HIV).

Cerebellar disorders associated with HIV infection are usually caused by opportunistic infections, central nervous system lymphoma, and toxic effects of medicines, nutritional and metabolic disorders, and cerebrovascular disease. We present an unusual association of cerebellar degeneration and immune thrombocytopenic purpura in a 28-years-old woman HIV infected. An autoimmune aetiology is likely.

Spontaneous artery dissection in a patient with Human Immunodeficiency Virus (HIV) infection.

BACKGROUND: The relationship between human immunodeficiency virus infection and stroke may be attributed in some cases to an underlying vasculopathy such as in spontaneous cervical arteries dissections. CASE REPORT: We report the case of an HIV-infected patient who developed a Wallemberg's syndrome due to a vertebral artery dissection. Screening laboratory exams showed hyperhomocysteinemia and also high C-reactive protein plasma levels. CONCLUSIONS: This is the first case describing the association between arterial dissection (AD) and HIV-infection. We suggest that AD should also be remembered as a possible mechanism of ischemic stroke in HIV-infected patients.

Epidemiology of primary and secondary headaches in a Brazilian tertiary-care center.

OBJECTIVE: To analyze the demographic features of the population sample, the time of headache complaint until first consultation and the diagnosis of primary and secondary headaches. METHOD: 3328 patients were analyzed retrospectively and divided according to gender, age, race, school instruction, onset of headache until first consultation and diagnosis(ICHD-II, 2004). RESULTS: Sex ratio (Female/Male) was 4:1, and the mean age was 40.7+/-15 years, without statistical differences between sexes. Approximately 65% of the patients were white and 55% had less than eight years of school instruction. Headache complaint until first consultation ranged from 1 to 5 years in 32.99% patients. The most prevalent diagnosis were migraine (37.98%), tension-type headache-TTH (22.65%) and cluster headache (2.73%). CONCLUSION: There are few data on epidemiological features of headache clinic populations, mainly in developing countries. According to the literature, migraine was more frequent than TTH. It is noteworthy the low school instruction of this sample and time patient spent to seek for specialized attention. Hypnic headache syndrome was seen with an unusual frequency.

Cerebral venous thrombosis and hepatitis: case report.

Among the many infective causes of cerebral venous thrombosis (CVT), viral hepatitis is been regarded as a rare associated condition. We report on a 56-years-old man presenting CVT associated with hepatitis B and C coinfections outlining probable pathogenic mechanisms. We suggest that virus B and C serology should be performed in the cases of cerebral venous thrombosis with unknown etiology.

Tuberculosis: an uncommon cause of cerebral venous thrombosis?

Several infectious etiologies are related to cerebral venous thrombosis (CVT), but a review of literature showed only few cases related to tuberculosis (TB), and only one with neurological manifestations. We report an unusual case of CVT related to TB and mutation in prothrombin gene. A 38-man black presented abrupt right hemiparestesis, and hemiparesis. Investigations revealed CVT. Cerebral spinal fluid (CSF) examination evidenced an infection by Mycobacterium. He was heterozygous for G20210A prothrombin mutation. Probably, hypercoagulability mechanisms of TB, added to mutation of prothrombin gene increase the risk of CVT.