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1.
Muscle Nerve ; 63(3): E21-E24, 2021 03.
Artigo em Inglês | MEDLINE | ID: mdl-33314145

Assuntos
/efeitos adversos , Melanoma/tratamento farmacológico , Doenças Musculares/induzido quimicamente , Miosite/induzido quimicamente , Miotonia Congênita/complicações , Distrofia Miotônica/complicações , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Neoplasias Cutâneas/tratamento farmacológico , Idoso , Anticorpos Monoclonais Humanizados/efeitos adversos , Cardiomiopatia Dilatada , Canais de Cloreto/genética , Conectina/genética , Transtornos de Deglutição/induzido quimicamente , Transtornos de Deglutição/complicações , Transtornos de Deglutição/diagnóstico , Transtornos de Deglutição/fisiopatologia , Eletrodiagnóstico , Eletromiografia , Humanos , Ipilimumab/efeitos adversos , Imagem por Ressonância Magnética , Masculino , Melanoma/secundário , Doenças Musculares/complicações , Doenças Musculares/genética , Doenças Musculares/fisiopatologia , Miosite/complicações , Miosite/diagnóstico , Miosite/fisiopatologia , Miotonia Congênita/diagnóstico , Miotonia Congênita/genética , Miotonia Congênita/fisiopatologia , Distrofia Miotônica/diagnóstico , Distrofia Miotônica/fisiopatologia , Condução Nervosa , Nivolumabe/efeitos adversos , Parestesia/induzido quimicamente , Parestesia/complicações , Parestesia/fisiopatologia , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Proteínas de Ligação a RNA/genética , Neoplasias Cutâneas/patologia , Neoplasias da Coluna Vertebral/tratamento farmacológico , Neoplasias da Coluna Vertebral/secundário
2.
PLoS One ; 15(12): e0242406, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-33320861

RESUMO

INTRODUCTION: Sensory and motor nerve deficits are prevalent in older adults and are associated with loss of functional independence. We hypothesize that chronic kidney disease predisposes to worsening sensorimotor nerve function over time. MATERIALS AND METHODS: Participants were from the Health, Aging and Body Composition Study (N = 1121) with longitudinal data between 2000-01 (initial visit) and 2007-08 (follow-up visit). Only participants with non-impaired nerve function at the initial visit were included. The predictor was presence of CKD (estimated GFR ≤ 60 ml/min/1.73m2) from the 1999-2000 visit. Peripheral nerve function outcomes at 7-year follow-up were 1) Motor: "new" impairments in motor parameters (nerve conduction velocity NCV < 40 m/s or peroneal compound motor action potential < 1 mv) at follow-up, and 2) Sensory: "new" impairment defined as insensitivity to standard 10-g monofilament or light 1.4-g monofilament at the great toe and "worsening" as a change from light to standard touch insensitivity over time. The association between CKD and "new" or "worsening" peripheral nerve impairment was studied using logistic regression. RESULTS: The study population was 45.9% male, 34.3% Black and median age 75 y. CKD participants (15.6%) were older, more hypertensive, higher in BMI and had 2.37 (95% CI 1.30-4.34) fold higher adjusted odds of developing new motor nerve impairments in NCV. CKD was associated with a 2.02 (95% CI 1.01-4.03) fold higher odds of worsening monofilament insensitivity. CKD was not associated with development of new monofilament insensitivity. CONCLUSIONS: Pre-existing CKD leads to new and worsening sensorimotor nerve impairments over a 7-year time period in community-dwelling older adults.


Assuntos
Nervos Periféricos/fisiopatologia , Doenças do Sistema Nervoso Periférico/epidemiologia , Insuficiência Renal Crônica/epidemiologia , Idoso , Envelhecimento , Grupo com Ancestrais do Continente Europeu , Feminino , Seguimentos , Humanos , Estudos Longitudinais , Masculino , Condução Nervosa/fisiologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Insuficiência Renal Crônica/complicações , Insuficiência Renal Crônica/fisiopatologia , Fatores de Risco , Autorrelato/estatística & dados numéricos , Limiar Sensorial/fisiologia
3.
PLoS One ; 15(9): e0239126, 2020.
Artigo em Inglês | MEDLINE | ID: mdl-32941465

RESUMO

Paclitaxel is a representative anticancer drug that induces chemotherapy-induced peripheral neuropathy (CIPN), a common side effect that limits many anticancer chemotherapies. Although PINK1, a key mediator of mitochondrial quality control, has been shown to protect neuronal cells from various toxic treatments, the role of PINK1 in CIPN has not been investigated. Here, we examined the effect of PINK1 expression on CIPN using a recently established paclitaxel-induced peripheral neuropathy model in Drosophila larvae. We found that the class IV dendritic arborization (C4da) sensory neuron-specific expression of PINK1 significantly ameliorated the paclitaxel-induced thermal hyperalgesia phenotype. In contrast, knockdown of PINK1 resulted in an increase in thermal hypersensitivity, suggesting a critical role for PINK1 in sensory neuron-mediated thermal nociceptive sensitivity. Interestingly, analysis of the C4da neuron morphology suggests that PINK1 expression alleviates paclitaxel-induced thermal hypersensitivity by means other than preventing alterations in sensory dendrites in C4da neurons. We found that paclitaxel induces mitochondrial dysfunction in C4da neurons and that PINK1 expression suppressed the paclitaxel-induced increase in mitophagy in C4da neurons. These results suggest that PINK1 mitigates paclitaxel-induced sensory dendrite alterations and restores mitochondrial homeostasis in C4da neurons and that improvement in mitochondrial quality control could be a promising strategy for the treatment of CIPN.


Assuntos
Antineoplásicos Fitogênicos/efeitos adversos , Proteínas de Drosophila/genética , Hiperalgesia/induzido quimicamente , Hiperestesia/induzido quimicamente , Paclitaxel/efeitos adversos , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Proteínas Serina-Treonina Quinases/genética , Animais , Modelos Animais de Doenças , Drosophila , Expressão Gênica , Técnicas de Silenciamento de Genes , Hiperalgesia/genética , Hiperalgesia/fisiopatologia , Hiperestesia/genética , Hiperestesia/fisiopatologia , Doenças do Sistema Nervoso Periférico/genética , Doenças do Sistema Nervoso Periférico/fisiopatologia , Células Receptoras Sensoriais/efeitos dos fármacos , Células Receptoras Sensoriais/metabolismo , Células Receptoras Sensoriais/patologia
4.
Ann Hematol ; 99(11): 2589-2598, 2020 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-32892275

RESUMO

The induction therapy containing ixazomib, an oral proteasome inhibitor, has shown favorable efficacy and safety in clinical trials, but its experience in real-life remains limited. In routine practice, few patients received ixazomib-based induction therapy due to reasons including (1) patients' preference on oral regimens, (2) concerns on adverse events (AEs) of other intravenous/subcutaneous regimens, (3) requirements for less center visits, and (4) fears of COVID-19 and other infectious disease exposures. With the aim of assessing the real-life effectiveness and safety of ixazomib-based induction therapy, we performed this multi-center, observational study on 85 newly diagnosed multiple myeloma (NDMM) patients from 14 medical centers. Ixazomib-based regimens included ixazomib-lenalidomide-dexamethasone (IRd) in 44.7% of patients, ixazomib-dexamethasone (Id) in 29.4%, and Id plus another agent (doxorubicin, cyclophosphamide, thalidomide, or daratumumab) in 25.9%. Different ixazomib-based therapies were applied due to (1) financial burdens or limitations on local health insurance coverage, (2) concerns on treatment tolerance, and (3) drug accessibility issue. Ten patients received ixazomib maintenance. The median age was 67 years; 43.5% had ISS stage III disease; 48.2% had an Eastern Cooperative Oncology Group performance score ≥ 2; and 17.6% with high-risk cytogenetic abnormalities. Overall response rate for all 85 patients was 95.3%, including 65.9% very good partial response or better and 29.5% complete responses. The median time to response was 30 days. The response rate was similar across different ixazomib-based regimens. Median progression-free survival was not reached. Severe AEs (≥ grade 3) were reported in 29.4% of patients. No grade 3/4 peripheral neuropathy (PN) occurred. Patients received a median of 6 (range 1-20) cycles of ixazomib treatment; 56.6% remained on treatment at data cutoff; 15.3% discontinued treatment due to intolerable AEs. These results support that the ixazomib-based frontline therapy was highly effective with acceptable toxicity in routine practice and the ixazomib oral regimens could be good alternative options for NDMM patients.


Assuntos
Protocolos de Quimioterapia Combinada Antineoplásica/administração & dosagem , Compostos de Boro/administração & dosagem , Glicina/análogos & derivados , Mieloma Múltiplo/tratamento farmacológico , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Adolescente , Adulto , Idoso , Anticorpos Monoclonais/administração & dosagem , Anticorpos Monoclonais/efeitos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/efeitos adversos , Compostos de Boro/efeitos adversos , Ciclofosfamida/administração & dosagem , Ciclofosfamida/efeitos adversos , Dexametasona/administração & dosagem , Dexametasona/efeitos adversos , Doxorrubicina/administração & dosagem , Doxorrubicina/efeitos adversos , Esquema de Medicação , Feminino , Glicina/administração & dosagem , Glicina/efeitos adversos , Humanos , Lenalidomida/administração & dosagem , Lenalidomida/efeitos adversos , Masculino , Pessoa de Meia-Idade , Mieloma Múltiplo/mortalidade , Mieloma Múltiplo/patologia , Estadiamento de Neoplasias , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/fisiopatologia , Indução de Remissão , Análise de Sobrevida , Talidomida/administração & dosagem , Talidomida/efeitos adversos , Resultado do Tratamento
6.
Ideggyogy Sz ; 73(3-4): 85-98, 2020 Mar 30.
Artigo em Húngaro | MEDLINE | ID: mdl-32364336

RESUMO

Diseases with peripheral motor symptoms are a rare, but important subgroup of the all peripheral neuropathies, radiculopathies and neuronopathies. In these mostly progressive neuropathies, the clinical features include pure motor symptoms with weakness and wasting of the striated muscles. The differentiation of these diseases is frequently a challenge for qualified clinical neurologists. A careful history taking, the disease time course, the findings of routine clinical physical examination and the electrophysiological studies are all necessary in the diagnostic procedure. The aim of this publication is to overview the clinical characteristics of the pure motor peripheral neuropathies, to consider the diagnostic steps and the differential diagnosis, and finally to summarize the treatment options.


Assuntos
Doença dos Neurônios Motores/diagnóstico , Doenças do Sistema Nervoso Periférico/diagnóstico , Diagnóstico Diferencial , Progressão da Doença , Humanos , Doença dos Neurônios Motores/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia
7.
Clin Sports Med ; 39(3): 597-621, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32446578

RESUMO

Sports-related peripheral neuropathies account for 6% of all peripheral neuropathies and most commonly involve the upper extremity. The routes of the median, radial, and ulnar nerves are positioned in arrangements of pulleys and sheaths to glide smoothly around the elbow. However, this anatomic relationship exposes each nerve to risk of compression. The underlying mechanisms of the athletic nerve injury are compression, ischemia, traction, and friction. Chronic athletic nerve compression may cause damage with moderate or low pressure for long or intermittent periods of time.


Assuntos
Traumatismos em Atletas , Cotovelo/inervação , Nervo Mediano/lesões , Nervo Radial/lesões , Nervo Ulnar/lesões , Traumatismos em Atletas/diagnóstico , Traumatismos em Atletas/etiologia , Traumatismos em Atletas/fisiopatologia , Traumatismos em Atletas/terapia , Cotovelo/lesões , Humanos , Nervo Mediano/anatomia & histologia , Doenças do Sistema Nervoso Periférico/diagnóstico , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Doenças do Sistema Nervoso Periférico/terapia , Nervo Radial/anatomia & histologia , Nervo Ulnar/anatomia & histologia
8.
Sci Rep ; 10(1): 6734, 2020 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-32317735

RESUMO

Oxaliplatin is a platinum-based antineoplastic drug commonly used for treating colorectal, gastric, and pancreatic cancer. However, it frequently causes peripheral neuropathy as dose-limiting toxicity and is lacking a strategy for prevention. Alogliptin, a dipeptidyl peptidase 4 (DPP-4) inhibitor, is an oral antidiabetic drug. Previous studies have shown that DPP-4 inhibitors have pleiotropic effects, including neuroprotection. In this study, we investigated the effects of alogliptin on oxaliplatin-induced peripheral neuropathy using in vitro and in vivo models. In PC12 cells, alogliptin attenuated neurite disorders induced by oxaliplatin and cisplatin. The repeated injection of oxaliplatin caused mechanical allodynia and axonal degeneration of the sciatic nerve in rats. These neuropathies were ameliorated by co-administration of alogliptin. Moreover, alogliptin did not attenuate tumor cytotoxicity of oxaliplatin in the cultured colon, gastric, or pancreatic cancer cell lines and tumor-bearing mice. These findings suggest that alogliptin may be beneficial for preventing oxaliplatin-induced peripheral neuropathy.


Assuntos
Antineoplásicos/efeitos adversos , Cisplatino/efeitos adversos , Hiperalgesia/prevenção & controle , Fármacos Neuroprotetores/farmacologia , Oxaliplatina/efeitos adversos , Doenças do Sistema Nervoso Periférico/prevenção & controle , Piperidinas/farmacologia , Uracila/análogos & derivados , Aloenxertos , Animais , Axônios/efeitos dos fármacos , Axônios/patologia , Diferenciação Celular/efeitos dos fármacos , Linhagem Celular Tumoral , Neoplasias do Colo/tratamento farmacológico , Neoplasias do Colo/patologia , Relação Dose-Resposta a Droga , Células HCT116 , Humanos , Hiperalgesia/induzido quimicamente , Hiperalgesia/fisiopatologia , Masculino , Camundongos , Camundongos Endogâmicos BALB C , Neuritos/efeitos dos fármacos , Neuritos/patologia , Células PC12 , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/fisiopatologia , Ratos , Ratos Sprague-Dawley , Nervo Isquiático/efeitos dos fármacos , Nervo Isquiático/fisiopatologia , Carga Tumoral/efeitos dos fármacos , Uracila/farmacologia
11.
Neurology ; 94(16): e1726-e1737, 2020 04 21.
Artigo em Inglês | MEDLINE | ID: mdl-32217776

RESUMO

OBJECTIVE: To investigate the clinicopathologic features of eosinophilic granulomatosis with polyangiitis (EGPA)-associated neuropathy with a focus on the presence or absence of anti-neutrophil cytoplasmic antibodies (ANCAs). METHODS: We examined the clinical features and pathologic findings of sural nerve biopsy specimens from 82 patients with EGPA-associated neuropathy. Of these patients, 32.9% were myeloperoxidase (MPO)-ANCA positive, and 67.1% were MPO-ANCA negative. PR3-ANCA was negative in all of 78 examined patients. RESULTS: Upper limb symptoms were more frequently reported as initial neuropathic manifestations in the MPO-ANCA-positive group than in the MPO-ANCA-negative group (44.4% vs 14.6%, p < 0.01). The serum levels of C-reactive protein were significantly higher in the MPO-ANCA-positive group than in the MPO-ANCA-negative group (p < 0.05). Sural nerve biopsy specimens showed findings suggestive of vasculitis (i.e., destruction of vascular structures) in epineurial vessels; these results were seen more frequently in the MPO-ANCA-positive group than in the MPO-ANCA-negative group (p < 0.0001). Conversely, the numbers of eosinophils in the lumen of the epineurial vessels (p < 0.01) and epineurial vessels occluded by intraluminal eosinophils (p < 0.05) were higher in the MPO-ANCA-negative group than in the MPO-ANCA-positive group. Furthermore, the incidence of eosinophil infiltration in the endoneurium was higher in the MPO-ANCA-negative group than in the MPO-ANCA-positive group (p < 0.01). CONCLUSIONS: This study suggests that the pathogenesis of EGPA comprises at least 2 distinct mechanisms: ANCA-associated vasculitis resulting in ischemic effects and inflammation, which is prominent in MPO-ANCA-positive patients, and eosinophil-associated vascular occlusion leading to ischemia and eosinophil-associated tissue damage, which is conspicuous in MPO-ANCA-negative patients.


Assuntos
Anticorpos Anticitoplasma de Neutrófilos/imunologia , Síndrome de Churg-Strauss/fisiopatologia , Debilidade Muscular/fisiopatologia , Nervos Periféricos/irrigação sanguínea , Doenças do Sistema Nervoso Periférico/fisiopatologia , Distúrbios Somatossensoriais/fisiopatologia , Idoso , Asma/etiologia , Síndrome de Churg-Strauss/complicações , Síndrome de Churg-Strauss/imunologia , Eletrodiagnóstico , Feminino , Humanos , Nefropatias/etiologia , Extremidade Inferior/inervação , Pneumopatias/etiologia , Imagem por Ressonância Magnética , Masculino , Pessoa de Meia-Idade , Debilidade Muscular/etiologia , Mieloblastina/imunologia , Condução Nervosa , Otorrinolaringopatias/genética , Nervos Periféricos/patologia , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/imunologia , Doenças do Sistema Nervoso Periférico/patologia , Peroxidase/imunologia , Dermatopatias Vasculares/etiologia , Distúrbios Somatossensoriais/etiologia , Nervo Sural/patologia , Tomografia Computadorizada por Raios X , Extremidade Superior/inervação
12.
Gait Posture ; 77: 156-163, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-32036320

RESUMO

BACKGROUND: Chemotherapy-induced peripheral neuropathy (CIPN) is a serious side effect deriving from neurotoxic chemotherapeutic agents. The underlying nerve injury can affect proprioception causing impaired postural control, gait difficulties and a higher risk of falling. Overall, the symptoms and functional limitations negatively affect patients' independence and quality of life. RESEARCH QUESTION: Our objective was to analyze postural control in cancer patients before and after neurotoxic chemotherapy and to compare these data to healthy controls. METHODS: Participants were 35 cancer patients (PAT) and 35 healthy, one-to-one gender, age, height, and weight matched controls (HMC). Postural control of HMC was tested once, whereas PAT were tested prior to (PATpre) and three weeks after completion of neurotoxic chemotherapy (PATpost). Temporal, spatial and frequency domain measures of the center of pressure (COP) were calculated using a force plate. The following balance conditions were analyzed: bipedal stance with open (BPEO) and closed eyes (BPEC), semi-tandem (STEO, STEC) and monopedal stance (MPEO). CIPN was assessed clinically (Total Neuropathy Score) and via questionnaire. Time and group differences were determined by using Wilcoxon-signed-rank tests. Spearman correlation was applied to analyze associations between severity of CIPN and postural control. RESULTS: PATpost showed significantly increased temporal and spatial measures of the COP (p < .05) - both after neurotoxic chemotherapy (PATpre-PATpost) and in comparison to HMC. Withdrawal of visual control resulted in greater temporal and spatial COP displacements in PATpost than in the comparative groups (PATpre, HMC). Correlation analyzes revealed moderate associations of COP measures with clinical CIPN measures and low to none for the questionnaires. SIGNIFICANCE: Three weeks after completion of neurotoxic chemotherapy, PATpost showed significant balance deficits compared to PATpre and HMC. Especially the deficits in the standing conditions with closed eyes may indicate an impaired proprioception. This hypothesis is supported by the finding that stronger CIPN symptoms were associated with poorer postural control. However, future studies need to take further influencing factors on postural control into account (e.g. strength) in order to generate efficacious rehabilitation measures.


Assuntos
Antineoplásicos/efeitos adversos , Neoplasias/tratamento farmacológico , Equilíbrio Postural/efeitos dos fármacos , Acidentes por Quedas , Adulto , Idoso , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Síndromes Neurotóxicas/etiologia , Síndromes Neurotóxicas/fisiopatologia , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/fisiopatologia , Equilíbrio Postural/fisiologia , Propriocepção/efeitos dos fármacos , Estudos Prospectivos , Qualidade de Vida
13.
Muscle Nerve ; 61(5): 587-594, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-32052458

RESUMO

BACKGROUND: Our study aim was to evaluate neuromuscular ultrasound (NMUS) for the assessment of taxane chemotherapy-induced peripheral neuropathy (CIPN), the dose-limiting toxicity of this agent. METHODS: This cross-sectional study of breast cancer patients with taxane CIPN measured nerve cross-sectional area (CSA) by NMUS and compared with healthy historical controls. Correlations were determined between CSA and symptom scale, nerve conduction studies, and intraepidermal nerve fiber density (IENFD). RESULTS: A total of 20 participants reported moderate CIPN symptoms at a median of 3.8 months following the last taxane dose. Sural nerve CSA was 1.2 mm2 smaller than healthy controls (P ≤ .01). Older age and time since taxane were associated with smaller sural nerve CSA. For each 1 mm2 decrease in sural nerve CSA, distal IENFD decreased by 2.1 nerve/mm (R2 0.30; P = .04). CONCLUSIONS: These data support a sensory predominant taxane neuropathy or neuronopathy and warrant future research on longitudinal NMUS assessment of CIPN.


Assuntos
Antineoplásicos/efeitos adversos , Neoplasias da Mama/tratamento farmacológico , Nervo Mediano/diagnóstico por imagem , Doenças do Sistema Nervoso Periférico/diagnóstico por imagem , Nervo Sural/diagnóstico por imagem , Taxoides/efeitos adversos , Nervo Tibial/diagnóstico por imagem , Ultrassonografia/métodos , Idoso , Albuminas/efeitos adversos , Tornozelo , Neoplasias da Mama/patologia , Estudos Transversais , Docetaxel/efeitos adversos , Eletrodiagnóstico , Epiderme/patologia , Feminino , Antebraço , Humanos , Perna (Membro) , Nervo Mediano/fisiopatologia , Pessoa de Meia-Idade , Fibras Nervosas/patologia , Condução Nervosa , Paclitaxel/efeitos adversos , Doenças do Sistema Nervoso Periférico/induzido quimicamente , Doenças do Sistema Nervoso Periférico/patologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Projetos Piloto , Estudos Prospectivos , Nervo Sural/fisiopatologia , Nervo Tibial/fisiopatologia , Punho
14.
Brain ; 143(2): 480-490, 2020 02 01.
Artigo em Inglês | MEDLINE | ID: mdl-32040566

RESUMO

Ataxia, causing imbalance, dizziness and falls, is a leading cause of neurological disability. We have recently identified a biallelic intronic AAGGG repeat expansion in replication factor complex subunit 1 (RFC1) as the cause of cerebellar ataxia, neuropathy, vestibular areflexia syndrome (CANVAS) and a major cause of late onset ataxia. Here we describe the full spectrum of the disease phenotype in our first 100 genetically confirmed carriers of biallelic repeat expansions in RFC1 and identify the sensory neuropathy as a common feature in all cases to date. All patients were Caucasian and half were sporadic. Patients typically reported progressive unsteadiness starting in the sixth decade. A dry spasmodic cough was also frequently associated and often preceded by decades the onset of walking difficulty. Sensory symptoms, oscillopsia, dysautonomia and dysarthria were also variably associated. The disease seems to follow a pattern of spatial progression from the early involvement of sensory neurons, to the later appearance of vestibular and cerebellar dysfunction. Half of the patients needed walking aids after 10 years of disease duration and a quarter were wheelchair dependent after 15 years. Overall, two-thirds of cases had full CANVAS. Sensory neuropathy was the only manifestation in 15 patients. Sixteen patients additionally showed cerebellar involvement, and six showed vestibular involvement. The disease is very likely to be underdiagnosed. Repeat expansion in RFC1 should be considered in all cases of sensory ataxic neuropathy, particularly, but not only, if cerebellar dysfunction, vestibular involvement and cough coexist.


Assuntos
Ataxia/fisiopatologia , Ataxia Cerebelar/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Neuronite Vestibular/fisiopatologia , Idoso , Idoso de 80 Anos ou mais , Ataxia/complicações , Cerebelo/fisiopatologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Exame Neurológico/efeitos adversos , Doenças do Sistema Nervoso Periférico/complicações , Reflexo Anormal/fisiologia , Transtornos das Sensações/etiologia , Transtornos das Sensações/fisiopatologia , Síndrome , Neuronite Vestibular/complicações
15.
Acta Neurol Belg ; 120(1): 149-154, 2020 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-31974930

RESUMO

We report a consanguineous family with a homozygous and heterozygous membrane metallo-endopeptidase (MME) mutation (c.467delC) and two clinical conditions: fetomaternal alloimmune membranous glomerulopathy (FMG) and hereditary motor and sensory axonal neuropathy. The penetrance of both phenotypes was variable. Some individuals experienced unusually fast neurological degradation. Pain and vasomotor signs were frequent complaints, possibly due to a loss of the neutral endopeptidase (NEP, the MME gene product) function and its subsequent inability to degrade substance P and vasomotor peptides. Electrophysiological and nerve biopsy findings were consistent with predominantly axonal neuropathy. This specific clinical phenotype was attributed to a c.467delC MME gene mutation. Diagnosis of such a mutation is important but can be challenging, due to allele dropout. Heterozygous subjects who had already reached the expected age of disease onset had peripheral neuropathy, but also suffered from additional diseases. Neurologists should advise women of childbearing age with MME mutations to seek pre-pregnancy genetic advice and nephrologists should search for neuropathy in patients with FMG.


Assuntos
Glomerulonefrite , Neprilisina/genética , Doenças do Sistema Nervoso Periférico , Adulto , Consanguinidade , Feminino , Glomerulonefrite/etiologia , Humanos , Recém-Nascido , Doenças do Recém-Nascido , Mutação , Linhagem , Doenças do Sistema Nervoso Periférico/complicações , Doenças do Sistema Nervoso Periférico/genética , Doenças do Sistema Nervoso Periférico/metabolismo , Doenças do Sistema Nervoso Periférico/fisiopatologia , Fenótipo , Gravidez , Complicações na Gravidez
16.
Anesthesiology ; 132(4): 881-894, 2020 04.
Artigo em Inglês | MEDLINE | ID: mdl-31977518

RESUMO

BACKGROUND: The anterior cingulate cortex and central nucleus of the amygdala connect widely with brainstem nuclei involved in descending modulation, including the rostral ventromedial medulla. Endogenous opioids in these circuits participate in pain modulation. The hypothesis was that a differential opioidergic role for the brain nuclei listed in regulation of spinal neuronal responses because separable effects on pain behaviors in awake animals were previously observed. METHODS: This study utilized in vivo electrophysiology to determine the effects of morphine microinjection into the anterior cingulate cortex, right or left central nucleus of the amygdala, or the rostral ventromedial medulla on spinal wide dynamic range neuronal responses in isoflurane-anesthetized, male Sprague-Dawley rats. Ongoing activity in the ventrobasal thalamus was also measured. In total, 33 spinal nerve ligated and 26 control age- and weight-matched control rats were used. RESULTS: Brainstem morphine reduced neuronal firing to 60-g von Frey stimulation in control rats (to 65 ± 12% of control response (means ± 95% CI), P < 0.001) with a greater inhibition in neuropathic rats (to 53 ± 17% of control response, P < 0.001). Contrasting anterior cingulate cortex morphine had only marginal modulatory effects on spinal neuronal responses with limited variance in effect between control and neuropathic rats. The inhibitory effects of morphine in the central nucleus of the amygdala were dependent on pain state and laterality; only right-side morphine reduced neuronal firing to 60-g stimulation in neuropathic rats (to 65 ± 14% of control response, P = 0.001). In addition, in neuropathic rats elevated ongoing neuronal activity in the ventral posterolateral thalamus was not inhibited by anterior cingulate cortex morphine, in contrast to evoked responses. CONCLUSIONS: Cumulatively the data support opioid modulation of evoked responses predominately through a lateralized output from the right amygdala, as well as from the brainstem that is enhanced in injured conditions. Minimal modulation of dorsal horn responses was observed after anterior cingulate cortex opioid administration regardless of injury state.


Assuntos
Tonsila do Cerebelo/efeitos dos fármacos , Analgésicos Opioides/administração & dosagem , Morfina/administração & dosagem , Rede Nervosa/efeitos dos fármacos , Doenças do Sistema Nervoso Periférico/tratamento farmacológico , Nervos Espinhais/efeitos dos fármacos , Potenciais de Ação/efeitos dos fármacos , Potenciais de Ação/fisiologia , Tonsila do Cerebelo/fisiologia , Animais , Relação Dose-Resposta a Droga , Giro do Cíngulo/efeitos dos fármacos , Giro do Cíngulo/fisiologia , Masculino , Bulbo/efeitos dos fármacos , Bulbo/fisiologia , Microinjeções/métodos , Rede Nervosa/fisiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Células do Corno Posterior/efeitos dos fármacos , Células do Corno Posterior/fisiologia , Ratos , Ratos Sprague-Dawley , Nervos Espinhais/fisiologia
17.
Sensors (Basel) ; 20(2)2020 Jan 16.
Artigo em Inglês | MEDLINE | ID: mdl-31963201

RESUMO

Concern about falling is prevalent and increases the risk of falling in people with peripheral neuropathy (PN). However, the assessment of concern about falling relies on self-report surveys, and thus continuous monitoring has not been possible. We investigated the influence of concern about falling on sensor-based daily physical activity among people with PN. Forty-nine people with PN and various levels of concern about falling participated in this study. Physical activity outcomes were measured over a period of 48 hours using a validated chest-worn sensor. The level of concern about falling was assessed using the falls efficacy scale-international (FES-I). The low concern group spent approximately 80 min more in walking and approximately 100 min less in sitting/lying compared to the high concern group. In addition, the low concern group had approximately 50% more walking bouts and step counts compared to the high concern group. Across all participants, the duration of walking bouts and total step counts was significantly correlated with FES-I scores. The duration of walking bouts and total step counts may serve as eHealth targets and strategies for fall risk assessment among people with PN.


Assuntos
Acidentes por Quedas/estatística & dados numéricos , Atividades Humanas/estatística & dados numéricos , Doenças do Sistema Nervoso Periférico , Postura/fisiologia , Dispositivos Eletrônicos Vestíveis , Idoso , Idoso de 80 Anos ou mais , Algoritmos , Desenho de Equipamento , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos Estatísticos , Doenças do Sistema Nervoso Periférico/fisiopatologia , Doenças do Sistema Nervoso Periférico/psicologia , Caminhada/fisiologia
18.
Clin Neurophysiol ; 131(3): 635-641, 2020 03.
Artigo em Inglês | MEDLINE | ID: mdl-31978848

RESUMO

OBJECTIVE: To investigate A-delta fiber pathways in patients with large, mixed, and small fiber neuropathies using pain-related evoked potentials (PREP). METHODS: We prospectively examined consecutive and unselected 108 patients with neuropathies using PREP. Patients were stratified according to impaired fiber types in those with large fiber neuropathy (LFN, n = 23), mixed fiber neuropathy (MFN, n = 80), and small fiber neuropathy (SFN, n = 5). Additionally, medical history, nerve conduction studies, quantitative sensory testing (QST), and skin punch biopsy were applied. Data was compared with those of 49 healthy controls. RESULTS: Patients with MFN showed a distal loss of PREP (16/80, 20%) and prolonged PREP latencies after stimulation at the foot (MFN: 225.8 [135-293.6] ms, controls: 218 [135-394] ms, p < 0.05). Patients with demyelinating neuropathies had prolonged PREP latencies after stimulation at the hand (p < 0.05 each). QST showed an impairment of small and large fiber function in patients with MFN. PREP were mostly absent in patients at advanced stages of neuropathies: in 10/31 (30%) patients with no recordable sural nerve action potential (SNAP, preserved SNAP: 8/76, 10% missing) and in 4/17 (24%) patients with loss of distal epidermal innervation (preserved epidermal innervation: 7/60, 24%) PREP was not recordable. PREP peak-to-peak amplitude after stimulation at the face was lowered in patients with reduced proximal intraepidermal nerve fiber density (p < 0.02). CONCLUSION: PREP is a useful screening method for A-delta fiber pathology also in patients with simultaneous large fiber pathology. Loss of PREP indicates advance stages of nerve fiber damage. SIGNIFICANCE: PREP may be useful as a complementary method for detection of small fiber impairment also in patients with mixed fiber neuropathy and in advanced stages.


Assuntos
Potenciais Somatossensoriais Evocados/fisiologia , Condução Nervosa/fisiologia , Dor/fisiopatologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Eletroencefalografia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Fibras Nervosas/fisiologia , Pele/inervação , Neuropatia de Pequenas Fibras/fisiopatologia
19.
Dis Mon ; 66(7): 100899, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-31806242

RESUMO

Leprosy is a bacterial infection causing severe disfigurement of the affected individual. It is considered as an ancient disease affecting humanity since thousands of years and also has tremendous stigma associated with it. It is known as a neglected tropical disease. In spite of all the efforts, the disease remains a major healthcare distress in many underdeveloped and developing countries like India and Brazil. Thus, to understand the disease and implement various strategies successfully, one need to understand the epidemiological aspect of the disease along with various operational factors influencing the epidemiological data. Thus, the present paper describes the various epidemiological facts and figures of leprosy along with the suggestions and measures to tackle this global ailment.


Assuntos
Hanseníase/epidemiologia , Hanseníase/microbiologia , Doenças do Sistema Nervoso Periférico/fisiopatologia , Dermatopatias Bacterianas/patologia , Brasil/epidemiologia , Criança , Feminino , História do Século XIX , Humanos , Incidência , Índia/epidemiologia , Hanseníase/história , Hanseníase/transmissão , Masculino , Mycobacterium leprae/isolamento & purificação , Doenças do Sistema Nervoso Periférico/etiologia , Doenças do Sistema Nervoso Periférico/microbiologia , Prevalência , Dermatopatias Bacterianas/etiologia , Dermatopatias Bacterianas/microbiologia , Estigma Social
20.
Ann Thorac Surg ; 109(6): 1897-1902, 2020 06.
Artigo em Inglês | MEDLINE | ID: mdl-31733188

RESUMO

BACKGROUND: Although adverse effects of phrenic nerve palsy (PNP) on early Fontan circulation have been reported, detailed late impact remains unclear. METHODS: Of 218 patients undergoing extracardiac total cavopulmonary connection between 1995 and 2008, 160 who all underwent cardiac catheter examination, spirometry, and exercise capacity testing 10 years after the operation were enrolled. The cohort was divided into 2 groups: with (N = 21) or without PNP (control group, N = 139). The patients with PNP were further divided into the recovered PNP group (n = 10) and the persistent PNP group (n = 11). All but 2 patients who developed PNP (90.9%) underwent diaphragmatic plication. There was no difference in hemodynamic indices at pre-Fontan evaluation among the three groups. RESULTS: Ten years after the Fontan procedure, the averaged forced vital capacity was 81% ± 18% of predicted in the control group, 86% ± 17% in the recovered PNP group, and 56% ± 12% in the persistent PNP group (P < .001). Peak oxygen consumption was linearly correlated to the forced vital capacity (r = 0.222, P = .009). There was no significant difference in the peak oxygen consumption between groups. Significant veno-venous collaterals into the diaphragm from lower body to pulmonary vein(s) or atria more frequently developed in patients who underwent diaphragmatic plication compared with those who did not (P < .001). CONCLUSIONS: Persistent PNP resulted in reduced forced vital capacity; however, its influence on exercise intolerance could not be identified. Diaphragmatic plication should be reserved for patients who experience clinically significant respiratory or hemodynamic sequelae of PNP.


Assuntos
Técnica de Fontan/efeitos adversos , Cardiopatias Congênitas/cirurgia , Doenças do Sistema Nervoso Periférico/complicações , Nervo Frênico/lesões , Complicações Pós-Operatórias , Paralisia Respiratória/etiologia , Pré-Escolar , Feminino , Seguimentos , Humanos , Lactente , Masculino , Doenças do Sistema Nervoso Periférico/fisiopatologia , Prognóstico , Paralisia Respiratória/fisiopatologia , Estudos Retrospectivos , Fatores de Tempo , Capacidade Vital/fisiologia
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