RESUMO
PURPOSE: To compare technical success, clinical success, complications and radiation dose for percutaneous intradiscal ozone therapy in patients with lumbar disc herniation using fluoroscopic guidance versus conventional computed tomography (CT) guidance. MATERIALS AND METHODS: Between March 2018and March 2021, 124consecutive percutaneous intradiscal ozone therapies wereperformedon111 patients with low back pain (LBP) and/or sciatic pain due to lumbar disc herniation, using fluoroscopic or conventional CT guidance, respectively in 53 and 58 herniated lumbar discs, with at least 1-month follow up. Dose area product (DAP) and dose length product (DLP) were recorded respectively for fluoroscopy and CT, and converted to effective dose (ED). RESULTS: Fluoroscopic and CT groups were similar in terms of patient age (p-value 0.39), patient weight (p-value 0.49) and pre-procedure Oswestry Disability Index (ODI, p-value 0.94). Technical success was achieved in all cases. Clinical success was obtained in 83.02% (44/53) patients in fluoroscopic group and 79.31% (46/58) in CT group. Mean DAP was 11.63Gy*cm2 (range 5.42-21.61). Mean DLP was 632.49mGy-cm (range 151.51-1699). ED was significantly lower in the fluoroscopic group compared toCT group (0.34 vs. 5.53mSv, p = 0.0119). No major complication was registered. Minor complications were observed in 4 cases (2 in fluoroscopic group; 2 in CT group). CONCLUSIONS: Compared to conventional CT guidance, fluoroscopic guidance for percutaneous intradiscal ozone therapy in patients with lumbar disc herniation shows similar technical and clinical success rates, with lower radiation dose. This technique helps sparing dose exposure to patients.
Assuntos
Deslocamento do Disco Intervertebral , Ozônio , Exposição à Radiação , Fluoroscopia/métodos , Humanos , Deslocamento do Disco Intervertebral/diagnóstico por imagem , Deslocamento do Disco Intervertebral/tratamento farmacológico , Vértebras Lombares/diagnóstico por imagem , Ozônio/uso terapêutico , Estudos Retrospectivos , Tomografia Computadorizada por Raios X/métodos , Resultado do TratamentoRESUMO
BACKGROUND: Huntington's disease (HD) patients often present with abnormal modulation of blood pressure and heart rate. We investigated whether cardiac autonomic innervation assessed by 123I-metaiodobenzylguanidine (MIBG) imaging is impaired in HD patients, in comparison with controls (Ctrl). METHODS: Fifteen patients (6 F and 9 M) were assessed by the motor section of the Unified HD Rating Scale, the Total Function Capacity, and the scale for outcomes in Parkinson's disease-autonomic (SCOPA-AUT) questionnaire. All patients and 10 Ctrl (5 F and 5 M) underwent 123I-MIBG imaging. From planar images, the early and late heart-to-mediastinum (H/M) ratios and myocardial washout rates (WR) were calculated. RESULTS: We did not find significant differences in early and late H/M ratios and WR between the two groups. At individual level, three patients showed reduced early and/or late H/M ratios. The most common autonomic complaints were gastrointestinal and genitourinary disorders. SCOPA-AUT questionnaire score results positively correlated with the disease duration and WR. CONCLUSIONS: Our study indicates that myocardial postganglionic sympathetic innervation is essentially preserved or only minimally involved in HD. These findings suggest that the cardiovascular dysfunction might be mainly due to the impairment of brain areas associated with the regulation and modulation of the heart function.
Assuntos
Doenças do Sistema Nervoso Autônomo , Doença de Huntington , Imagem de Perfusão do Miocárdio , 3-Iodobenzilguanidina , Doenças do Sistema Nervoso Autônomo/diagnóstico por imagem , Coração/inervação , Humanos , Doença de Huntington/diagnóstico por imagem , Radioisótopos do Iodo , Compostos RadiofarmacêuticosRESUMO
Neuroacanthocytosis (NA) syndromes are a group of genetically defined diseases characterized by the association of red blood cell acanthocytosis, progressive degeneration of the basal ganglia and neuromuscular features with characteristic persistent hyperCKemia. The main NA syndromes include autosomal recessive chorea-acanthocytosis (ChAc) and X-linked McLeod syndrome (MLS). A series of Italian patients selected through a multicenter study for these specific neurological phenotypes underwent DNA sequencing of the VPS13A and XK genes to search for causative mutations. Where it has been possible, muscle biopsies were obtained and thoroughly investigated with histochemical assays. A total of nine patients from five different families were diagnosed with ChAC and had mostly biallelic changes in the VPS13A gene (three nonsense, two frameshift, three splicing), while three patients from a single X-linked family were diagnosed with McLeod syndrome and had a deletion in the XK gene. Despite a very low incidence (only one thousand cases of ChAc and a few hundred MLS cases reported worldwide), none of the 8 VPS13A variants identified in our patients is shared by two families, suggesting the high genetic variability of ChAc in the Italian population. In our series, in line with epidemiological data, McLeod syndrome occurs less frequently than ChAc, although it can be easily suspected because of its X-linked mode of inheritance. Finally, histochemical studies strongly suggest that muscle pathology is not simply secondary to the axonal neuropathy, frequently seen in these patients, but primary myopathic alterations can be detected in both NA syndromes.
Assuntos
Músculo Esquelético , Mutação , Proteínas de Transporte Vesicular , Adulto , Criança , Estudos de Coortes , Eritrócitos/metabolismo , Eritrócitos/patologia , Feminino , Humanos , Itália , Masculino , Músculo Esquelético/metabolismo , Músculo Esquelético/patologia , Doenças Musculares/genética , Doenças Musculares/metabolismo , Doenças Musculares/patologia , Neuroacantocitose/genética , Neuroacantocitose/metabolismo , Neuroacantocitose/patologia , Proteínas de Transporte Vesicular/genética , Proteínas de Transporte Vesicular/metabolismoRESUMO
OBJECTIVES: To evaluate the retinal and choriocapillaris vascular networks in macular region and the central choroidal thickness (CCT) in patients affected by Huntington disease (HD), using optical coherence tomography angiography (OCTA) and enhanced depth imaging spectral-domain OCT (EDI SD-OCT). METHODS: We assessed the vessel density (VD) in superficial capillary plexus (SCP), deep capillary plexus (DCP), and choriocapillaris (CC) using OCTA, while CCT was measured by EDI SD-OCT. RESULTS: Sixteen HD patients (32 eyes) and thirteen healthy controls (26 eyes) were enrolled in this prospective study. No significant difference in retinal and choriocapillaris VD was found between HD patients and controls while CCT turned to be thinner in patients respect to controls. There were no significant relationships between OCTA findings and neurological parameters. CONCLUSION: The changes in choroidal structure provide useful information regarding the possible neurovascular involvement in the physiopathology of HD. Choroidal vascular network could be a useful parameter to evaluate the vascular impairment that occurs in this neurodegenerative disease.
Assuntos
Doença de Huntington , Doenças Neurodegenerativas , Angiofluoresceinografia , Humanos , Doença de Huntington/diagnóstico por imagem , Estudos Prospectivos , Vasos Retinianos/diagnóstico por imagem , Tomografia de Coerência ÓpticaRESUMO
INTRODUCTION: In recent years, cerebellar abnormalities have gained increasing attention as possible physiopathological substratum of idiopathic cervical dystonia (ICD), but a consistent pattern of cerebellar structural modifications has not yet been established. We systematically investigated the presence of volumetric alterations of cerebellar gray (GM) and white matter (WM) in ICD patients, as well as their clinical relevance. METHODS: In this two-centers prospective cross-sectional study, from May 2013 to December 2017, 27 patients with ICD and 27 age- and sex-comparable healthy controls underwent brain MRI including 3D T1-weighted sequences for volumetric analyses. Between-group differences in terms of gray matter and cerebellar peduncles volumes were investigated using both region of interest (ROI)-based and voxel-based approaches using the SUIT tool (SPM12), and significant volumetric changes were correlated with clinical impairment (as measured with the Tsui score) and presence of tremor. RESULTS: ICD patients showed significant volumetric reduction of cerebellar GM in the anterior lobe and lobule VI, resulting from both ROI-based (p ≤ 0.009) and voxel-based (p ≤ 0.04) analyses, while small clusters of reduced WM volume were found in the right cerebellum and left midbrain (p = 0.04), along with reduced volume of the bilateral superior (p = 0.04) and middle (p = 0.03) cerebellar peduncles. Furthermore, higher middle cerebellar peduncles volume was associated with the presence of tremor (p = 0.04). CONCLUSION: Our data show evidence of a specific pattern of cerebellar structural abnormalities in ICD patients, with volume loss mainly involving cortical GM regions related to the somatotopic representation of the affected body parts and, to a lesser extent, cerebellar peduncles.
Assuntos
Cerebelo/patologia , Distúrbios Distônicos/patologia , Substância Cinzenta/patologia , Pedúnculo Cerebelar Médio/patologia , Torcicolo/patologia , Tremor/patologia , Adulto , Idoso , Atrofia/patologia , Cerebelo/diagnóstico por imagem , Estudos Transversais , Distúrbios Distônicos/complicações , Distúrbios Distônicos/diagnóstico por imagem , Feminino , Substância Cinzenta/diagnóstico por imagem , Humanos , Imageamento por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Pedúnculo Cerebelar Médio/diagnóstico por imagem , Estudos Prospectivos , Torcicolo/diagnóstico por imagem , Tremor/diagnóstico por imagem , Tremor/etiologiaRESUMO
OBJECTIVE: Timed neuropsychological tests do not take into account physical impairment during scoring procedures. Dysarthria and upper limb impairment can be easily measured with the PATA rate test (PRT) and the nine-hole pegboard test (9HPT). We recently validated a normalization method for timed neuropsychological tests using the PRT and 9HPT (p9NORM). We now validate the p9NORM in Parkinson's disease (Yarnall et al. Neurology 82(4):308-316; 2014) and multiple system atrophy (MSA). METHODS: We enrolled twenty-six patients with PD, eighteen patients with MSA, and fifteen healthy controls (HC). p9NORM was applied to patients with abnormal PRT and/or 9HPT. All subjects were tested with a comprehensive neuropsychological battery. RESULTS: No differences emerged in demographics across groups: (PD: mean age ± SD 66 ± 8; education 9 ± 4 years; MSA: age 60 ± 8; education 10 ± 4 years; HC: age 61 ± 12; education 9 ± 4 years). In MSA patients, the scores on the trail making test (TMT-A p = 0.003; TMT-B p = 0.018), attentional matrices (AM; p = 0.042), and symbol digit modalities test (SDMT p = 0.027) significantly differed following application of p9NORM. In PD patients, the TMT-A (p < 0.001), TMT-B (p = 0.001), and AM (p = 0.001) differed after correction. PD and MSA showed cognitive impairment relative to HC performance. When comparing MSA with PD, the SDMT, AM, and fluencies were similar. TMT-A and -B raw scores were different between groups (p = 0.006; p = 0.034), but these differences lost significance after p9NORM corrections (p = 0.100; p = 0.186). CONCLUSIONS: We confirm that the p9NORM can be successfully used in both PD and MSA patients, as it mitigates the impact of disability on timed tests, resulting in a more accurate analysis of cognitive domains.
Assuntos
Disfunção Cognitiva , Atrofia de Múltiplos Sistemas , Doença de Parkinson , Idoso , Disfunção Cognitiva/diagnóstico , Disfunção Cognitiva/etiologia , Humanos , Pessoa de Meia-Idade , Atrofia de Múltiplos Sistemas/complicações , Atrofia de Múltiplos Sistemas/diagnóstico , Testes Neuropsicológicos , Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Teste de Sequência AlfanuméricaRESUMO
Mental rotation has attracted the interest of cognitive research on dystonia, but at the moment, contrasting data are available on whether this complex cognitive ability is impaired in the disorder. Here, we assessed spatial and egocentric mental rotation in patients with cervical dystonia (CD). Patients with CD and healthy controls were required to perform a letter rotation task (spatial mental rotation) and to judge laterality of front-facing and back-facing human images (egocentric mental rotation). CD patients were selectively impaired on letter rotation, whereas they did not differ from controls when judging laterality of both front-facing and back-facing bodies. These findings support the view according to which neural circuits involved in spatial processing are dysfunctional in CD.
Assuntos
Torcicolo , Lateralidade Funcional , Humanos , Imaginação , Orientação , Tempo de Reação , Percepção EspacialRESUMO
The aim of this study is to explore the existence of specific personality traits related to patients with blepharospasm (BSP), treated with injections of botulinum neurotoxin (BTX). Sixteen patients with BSP, 22 with facial hemispasm (HFS), 20 with essential hyperhidrosis (EH) and 20 healthy controls (HCs) completed the Temperament and Character Inventory-Revised to explore personality traits based on Cloninger's Psychobiological Model. The results revealed that the four groups differed on the Harm Avoidance (HA) scale and fear of uncertainty subscale, as well as on Persistence (PS). On HA, BSP group did not differ from HCs, but had higher scores than HFS and EH groups. On PS scales, BSP and HFS patients did not differ between them but showed higher score than HCs and EH patients. Our findings suggested that a high level of Harm Avoidance and Persistence seem to be associated with BSP, when compared with any disorders treated with BTX. An evaluation of the personality traits might help the clinicians to early identify BSP patients at greater risk of developing psychopathological disturbances.
Assuntos
Blefarospasmo/psicologia , Espasmo Hemifacial/psicologia , Hiperidrose/psicologia , Personalidade , Adulto , Blefarospasmo/tratamento farmacológico , Toxinas Botulínicas/uso terapêutico , Estudos de Casos e Controles , Caráter , Distonia , Feminino , Voluntários Saudáveis , Humanos , Masculino , Pessoa de Meia-Idade , TemperamentoRESUMO
OBJECTIVE: Weight loss is common in patients with Parkinson's disease (PD). It has been reported that low Body Mass Index (BMI) is associated with disease progression in these patients, but only a few data are available on the relationship between BMI and cognitive dysfunctions in PD patients. In the present study we systematically assessed the possible relationship between BMI index and specific cognitive defects. METHOD: We enrolled a prospective sample of 37 PD individuals and 30 healthy controls (HC) of similar age, sex, and education. The BMI was calculated in each participant, who underwent a neuropsychological assessment exploring the general cognitive skills, frontal/executive, visuo-spatial, visuo-constructional and memory abilities. RESULTS: We showed that PD group had significant lower BMI value compared to HC group. In PD patients, the BMI was negatively correlated to disease duration and number of errors at the Stroop-Color Word Test, and positively to score on Frontal Assessment Battery (FAB). Moreover, a regression analysis revealed that, the BMI in PD patients was associated with disease duration and score on FAB. CONCLUSIONS: Our findings contribute to reveal that the relationship between height and weight is strongly related to frontal cognitive dysfunctions in PD patients.
Assuntos
Índice de Massa Corporal , Cognição , Doença de Parkinson/patologia , Idoso , Feminino , Lobo Frontal/fisiopatologia , Humanos , Masculino , Pessoa de Meia-Idade , Redução de PesoRESUMO
OBJECTIVE: Patients with Huntington's disease (HD) may show impairments of frontal cortical-subcortical circuits with difficulties on cognitive flexibility tasks. One marker of poor flexibility is "perseveration" behavior, which refers to inappropriate and involuntary production of iterative responses not adequate to the current task demands. This study explored frequency, type, and possible cognitive mechanisms of verbal perseverations in a large sample of HD patients. METHOD: A sample of 128 patients with HD underwent phonological and category verbal fluency tests to assess perseverative errors, within a wide neuropsychological, psychopathological, motor, and functional assessment. RESULTS: Perseverative errors in verbal fluency task occurred in 89 (69.5%) patients. Patients showing perseverations scored significantly lower than patients without perseverations on tasks tapping executive and motor functions and on functional independence scales. Logistic regression analysis revealed a significant independent association of verbal perseverations with scores on Trail Making Test only. Conclusions: Verbal perseverations are frequent in HD patients and are likely related with impairments of attentional switching and working memory, hampering tracking of verbal responses already produced. Perseverative behavior may serve as a useful clinical marker of cognitive and functional impairment in patients with HD.
Assuntos
Atenção , Doença de Huntington , Comportamento Verbal , Humanos , Doença de Huntington/complicações , Doença de Huntington/fisiopatologia , Memória de Curto Prazo , Testes Neuropsicológicos , Estudos RetrospectivosRESUMO
INTRODUCTION: Executive dysfunctions are observed in focal dystonia (i.e., blepharospasm and cervical dystonia). Prospective memory (PM) is the ability to remember to carry out intended actions in the future and plays a relevant role in everyday living and quality of life. Although alterations of prefrontal cortex occur in focal dystonia, until now, no study has yet investigated the occurrence of deficit of PM in focal dystonia. Therefore, the aim of the study was to explore PM and its cognitive correlates in cervical dystonia and blepharospasm. METHODS: Twenty-seven patients with blepharospasm, 26 patients with cervical dystonia and 30 healthy subjects, matched for demographic features, underwent neuropsychological tests assessing PM, verbal memory, executive functions, and questionnaires assessing subjective prospective and retrospective memory failures, and apathy. RESULTS: The three groups did not differ on tests assessing verbal memory, executive functions, but they significantly differed on PM tests. In detail, patients with blepharospasm and cervical dystonia performed worse on time-based and recognition tasks than healthy subjects, while no difference on event-based task was found. Regression analysis showed a relationship between a lower score on Modified Card Sorting Test and a reduced performance on time-based, event-based and recognition tasks within focal dystonia group. CONCLUSION: The results indicated a selective deficit of time-based PM in focal dystonia, supporting previous evidence of cognitive dysfunctions in dystonic patients. The relationship between impaired time-based PM and poor performance on cognitive flexibility tests might suggest that difficulty in managing two concurrent cognitive demands contributes to impaired time-based PM.
Assuntos
Distúrbios Distônicos/complicações , Distúrbios Distônicos/fisiopatologia , Função Executiva/fisiologia , Memória/fisiologia , Idoso , Feminino , Humanos , Masculino , Pessoa de Meia-IdadeRESUMO
Gustatory perception has been poorly explored in Parkinson's disease (PD). Aim of this study was to assess the flavor ability in PD patients, using the "flavor test" (FT), a new standardized and validated tool to examine the flavor perception. Thirty-eight patients (17 F and 21 M) and 36 control subjects (15 F and 21 M) comparable for age and gender were enrolled. All the subjects underwent the flavor test (FT), the Sniffin' Sticks test (SST), and the gustometry test (GT), based on the basic four tastants ("salty," "sour," "sweet," and "bitter"). PD patients presented a FT score significantly lower than controls (p < 0.001). Olfaction (SST) was impaired in PD in comparison with controls (p < 0.001), and the patients also showed a mild reduction of basic tastant identification at the GT (p = 0.08), with a trend toward statistical significance. There was no correlation between SST, FT, and GT. GT performance was negatively correlated with disease severity (p = 0.004) and stage (p = 0.024). The SST and FT resulted abnormal in PD in comparison with controls, independently of disease duration and severity. The ability to identify the basic four tastants was correlated with the disease severity and stage in PD patients suggesting that it might occur later in the course of the disease. FT might be a sensitive tool in identifying the sensorineural perception dysfunction in PD, even in the early stage and regardless of the disease severity.
Assuntos
Doença de Parkinson/complicações , Doença de Parkinson/diagnóstico , Distúrbios do Paladar/diagnóstico , Distúrbios do Paladar/etiologia , Adulto , Idoso , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Doença de Parkinson/fisiopatologia , Índice de Gravidade de Doença , Distúrbios do Paladar/fisiopatologia , Percepção Gustatória/fisiologiaRESUMO
INTRODUCTION: Subjects with Rett syndrome (RS) develop invariably severe motor deterioration resulting in swallowing difficulties that may produce excessive drooling. Hypersalivation can cause discomfort due to hygienic problems and may complicate with oral and respiratory dysfunctions. The aim of this study is to evaluate the response to treatment with botulinum toxin (BTX) for hypersalivation and to identify possible benefits of saliva reduction on oral motor and respiratory disorders of patients with RS. METHODS: Five consecutive patients with RS and hypersalivation were treated with incobotulinumtoxin A injected in salivary glands with ultrasound guidance. Severity of excessive drooling was assessed with the Thomas-Stonell and Greenberg Scale (TGSC) and the clinical impact of the treatment was evaluated using three selected items of RS Assessment Rating Scale (R.A.R.S.): eating habits, dyspnoea and bruxism. Scale rating was performed before BTX injection (T0), 4 (T1) and 12 (T2) weeks after. RESULTS: Scores of TGSC and R.A.R.S. (for eating and bruxism) were reduced significantly after therapy at T1. CONCLUSIONS: BTX treatment for sialorrhea in RS is effective in reducing saliva production and may also improve oral motor functions.
RESUMO
Easily accessible biomarkers in Huntington disease (HD) are actively searched. We investigated telomere length and DNA double-strand breaks (histone variant pγ-H2AX) as predictive disease biomarkers in peripheral blood mononuclear cells (PBMC) from 25 premanifest subjects, 58 HD patients with similar CAG expansion in the huntingtin gene (HTT), and 44 healthy controls (HC). PBMC from the pre-HD and HD groups showed shorter telomeres (p < 0.0001) and a significant increase of pγ-H2AX compared to the controls (p < 0.0001). The levels of pγ-H2AX correlated robustly with the presence of the mutated gene in pre-HD and HD. The availability of a potentially reversible biomarker (pγ-H2AX) in the premanifest stage of HD, negligible in HC, provides a novel tool to monitor premanifest subjects and find patient-specific drugs. Ann Neurol 2018;00:1-6 ANN NEUROL 2019;85:296-301.
Assuntos
Dano ao DNA , Doença de Huntington/metabolismo , Sintomas Prodrômicos , Telômero/metabolismo , Adulto , Idoso , Biomarcadores/metabolismo , Estudos de Casos e Controles , Feminino , Citometria de Fluxo , Histonas/metabolismo , Humanos , Leucócitos Mononucleares , Masculino , Pessoa de Meia-Idade , Fosforilação , Adulto JovemRESUMO
OBJECTIVE: In visuo-constructional tasks, patients may reproduce drawings near-to or superimposed on a model, showing the so-called "Closing-in" (CI), often ascribed to a defect in inhibitory control. CI has been described in neurological conditions, but no studies have explored CI in Huntington's disease (HD), a neurodegenerative disorder often involving the frontal cortical-subcortical circuits. We searched for the occurrence of CI in HD patients and systematically investigated its correlates to find a clinical marker of the frontal/executive dysfunctions in the early examination of HD patients. METHOD: We assessed 130 HD participants, who performed a graphic coping task and a neuropsychological, psychiatric, motor, and functional assessment. RESULTS: CI occurred in 52/130 (40%) HD patients, with 43/52 (82.7%) superimposing their copy directly on the model. MANOVA showed that HD patients with CI scored significantly poorer on Symbol digit modality test, Stroop-color word - reading test, Stroop-color word - interference test, Trail making test - part B, and Phonological verbal fluency test. However, a logistic regression analysis revealed that the significant predictor of the occurrence of CI was the score on Stroop-color word - interference test. CONCLUSIONS: HD patients may show CI in graphic tasks, and it could be related to a defect in inhibitory control impeding the switch of attention from the model to the copying space, and releasing a default tendency which causes an attraction of hand movement towards the focus of visual attention. CI might be a useful clinical marker for the early detection of frontal/executive defects in HD patients.
Assuntos
Atenção/fisiologia , Função Executiva/fisiologia , Doença de Huntington/psicologia , Adulto , Feminino , Lobo Frontal/fisiopatologia , Humanos , Doença de Huntington/fisiopatologia , Masculino , Pessoa de Meia-Idade , Testes Neuropsicológicos , Desempenho Psicomotor/fisiologia , Teste de Sequência AlfanuméricaRESUMO
OBJECTIVE: To devise an Italian version of the quick mild cognitive impairment screen (Qmci) and to obtain normative data. METHODS: An Italian version of the Qmci screen (Qmci-I) was administered to 307 subjects free from cognitive impairment. The normative sample was divided into three age levels (50-59; 60-69 and 70-80 years) and four education levels (3-5; 6-8; 9-13; >13 years of school attendance). Multiple regression analyses were used to evaluate the effect of age, sex and schooling on Qmci-I scores (overall and by domains) and to calculate cut-off values, with reference to the confidence interval on the fifth centile. RESULTS: The mean Qmci-I score was 64/100 (SD = 11). The age variable showed a significant negative effect on the overall Qmci-I score, with older people performing worse than younger ones. Conversely, education was associated with higher scores. Significant effects of age and education affected logical memory alone. For the other domains, the following effects were found: (1) higher age associated with lower scores on delayed recall; (2) higher education levels associated with higher scores on immediate recall, clock drawing and word fluency. The adjusted cut-off score for the Qmci-I screen in this sample was 49.4. Qmci-I scores were weakly correlated with those of MMSE (rho = 0.20). CONCLUSIONS: The Qmci-I is a rapid and multi-domain short cognitive screening instrument useful for evaluating cognitive functions. However, like other screening tools, it is significantly influenced by age and education, requiring normative data and correction of values when used in the clinical practice.
Assuntos
Disfunção Cognitiva/diagnóstico , Testes Neuropsicológicos , Idoso , Idoso de 80 Anos ou mais , Cognição , Disfunção Cognitiva/psicologia , Feminino , Humanos , Itália , Idioma , Masculino , Testes de Estado Mental e Demência , Pessoa de Meia-IdadeRESUMO
Introduction: There are several reported cases of patients developing motor and cognitive neurological impairment under treatment with valproic acid (VPA). We describe a woman who developed a subacute encephalopathy after VPA intake, harboring a mitochondrial DNA variant, previously described as causing VPA sensitivity in one pediatric patient. Material and Methods: A 65-year old woman developed a progressive, severe neurological deterioration after a 3 month treatment with valproate sodium, 800 mg daily. Magnetic resonance spectroscopy (MRS), muscle histochemical analysis and assay of mitochondrial enzymatic activities, and mitochondrial DNA sequencing were performed. Results: Neurological examination showed drowsiness, vertical gaze palsy, inability to either stand or walk, diffuse weakness, increased tendon reflexes. Blood lactate was increased, EEG showed diffuse theta and delta activity, MRI subcortical atrophy and leukoencephalopathy, MRS marked reduction of the NAA spectrum, with a small signal compatible with presence of lactate. Muscle biopsy evidenced presence of ragged red fibers (20%) and reduced COX reactivity. Assay of the muscle enzymatic activities showed multiple deficiencies of the electron transport chain and reduced ATP production. The mt.8393C>T variant in the MT-ATP8 gene was found in homoplasmy. The patient considerably improved after valproate withdrawal. Conclusion: The variant we found has been reported both as a polymorphism and, in a single patient, as related to the valproate-induced encephalopathy. The present case is the first bearing this mutation in homoplasmy. In case of neurological symptoms after starting VPA therapy, once hyperammonemia and liver failure have been ruled out, mtDNA abnormalities should be considered.
RESUMO
One hundred-eighteen spinocerebellar ataxia type 2 patients from 35 distinct families personally observed between 1973 and 2016 were retrospectively reviewed. The time point of data collection was 1 January 2017. Thirty-one patients were confined to wheelchair. The median time to wheelchair was 21 years (95% CI, 17.5-24.6). Thirty-seven patients were deceased. The median time to death was 25 years (95% CI, 22.9-27.1). CAG repeat number and ataxia score at first visit influenced the time to wheelchair and death.
Assuntos
Ataxias Espinocerebelares/epidemiologia , Ataxias Espinocerebelares/mortalidade , Adolescente , Adulto , Idoso , Ataxina-2/genética , Criança , Feminino , Humanos , Itália/epidemiologia , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Valor Preditivo dos Testes , Estudos Retrospectivos , Ataxias Espinocerebelares/classificação , Ataxias Espinocerebelares/genética , Repetições de Trinucleotídeos/genética , Adulto JovemRESUMO
Animal-assisted therapy (AAT) includes a set of nonpharmacological interventions aimed at improving human health through the use of trained or untrained animals. In recent decades, AAT has been trialed for different neurological and psychiatric disorders. In patients with dementia, interaction with animals seems to have a positive influence on aggressiveness and anxiety and to ameliorate quality of life and relationship skills. In psychiatric patients, AAT seems to increase motivation and self-esteem, improve prosocial conduct, and decrease behavioral problems. The aim of this study is to review the literature on AAT for elderly people with dementia and psychiatric disorders. Other fields of possible application for AAT are suggested.