Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 20 de 33
Filtrar
Mais filtros

Base de dados
País/Região como assunto
Tipo de documento
Intervalo de ano de publicação
1.
Nervenarzt ; 91(12): 1130-1133, 2020 Dec.
Artigo em Alemão | MEDLINE | ID: mdl-32990789

RESUMO

BACKGROUND: Muscle cramps are suddenly occurring involuntary, mostly painful contractions of a single muscle, rarely of a muscle group. They can be idiopathic or occur in various neuromuscular diseases and can sometimes substantially impair the quality of life due to the frequency and strength. Only a few drugs are available for the effective treatment of cramps. RESULTS: In this case series we report on five patients with cramps of different origin who responded well to treatment with brivaracetam. DISCUSSION: Brivaracetam is actually used for the treatment of epileptic seizures. It binds to the synaptic vesicle protein 2A (SV2A), which also occurs in nerves and nerve roots. The SV2A regulates the exocytotic release of neurotransmitters, which could explain the effect of brivaracetam on muscle cramps. CONCLUSION: Further studies are needed to demonstrate the effect of brivaracetam on muscle cramps.


Assuntos
Cãibra Muscular , Qualidade de Vida , Anticonvulsivantes/uso terapêutico , Humanos , Cãibra Muscular/tratamento farmacológico , Pirrolidinonas
2.
Muscle Nerve ; 54(1): 132-5, 2016 06.
Artigo em Inglês | MEDLINE | ID: mdl-26789013

RESUMO

INTRODUCTION: Ultrasound has become a reliable method to detect fasciculations. There is disagreement as to whether fasciculations above the knee should raise the suspicion of a disorder even if there are no other signs of lower motor neuron abnormality. METHODS: Using ultrasonography, 3 arm and 3 leg muscles were investigated for 120 s, 45 min after 90-min handball training or a 5,000 meter run in a group of 25 men and 25 women handball players and 7 men who are amateur runners. RESULTS: All athletes had fasciculations in muscles above the knee. There were no fasciculations in the upper limb muscles in the runner group. In 21 men and 18 women handball players between 1 to 17 fasciculations in 2 min were detected. The number of fasciculations in the rectus femoris was 4-fold higher in the runners compared with the handball players (ratio 0.24; P = 0.037). CONCLUSIONS: Fasciculations may occur in muscles above the knee in healthy subjects. The distribution of fasciculations primarily depends on the exercised muscles. Muscle Nerve, 2016 Muscle Nerve 54: 132-135, 2016 Muscle Nerve 54: 132-135, 2016.


Assuntos
Exercício Físico/fisiologia , Fasciculação/diagnóstico por imagem , Ultrassonografia , Adolescente , Adulto , Fatores Etários , Feminino , Voluntários Saudáveis , Humanos , Modelos Lineares , Masculino , Estudos Prospectivos , Fatores Sexuais , Adulto Jovem
3.
Ann Neurol ; 76(1): 120-33, 2014 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-24931836

RESUMO

OBJECTIVE: Substantial clinical, pathological, and genetic overlap exists between amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 inclusions have been found in both ALS and FTD cases (FTD-TDP). Recently, a repeat expansion in C9orf72 was identified as the causal variant in a proportion of ALS and FTD cases. We sought to identify additional evidence for a common genetic basis for the spectrum of ALS-FTD. METHODS: We used published genome-wide association studies data for 4,377 ALS patients and 13,017 controls, and 435 pathology-proven FTD-TDP cases and 1,414 controls for genotype imputation. Data were analyzed in a joint meta-analysis, by replicating topmost associated hits of one disease in the other, and by using a conservative rank products analysis, allocating equal weight to ALS and FTD-TDP sample sizes. RESULTS: Meta-analysis identified 19 genome-wide significant single nucleotide polymorphisms (SNPs) in C9orf72 on chromosome 9p21.2 (lowest p = 2.6 × 10(-12) ) and 1 SNP in UNC13A on chromosome 19p13.11 (p = 1.0 × 10(-11) ) as shared susceptibility loci for ALS and FTD-TDP. Conditioning on the 9p21.2 genotype increased statistical significance at UNC13A. A third signal, on chromosome 8q24.13 at the SPG8 locus coding for strumpellin (p = 3.91 × 10(-7) ) was replicated in an independent cohort of 4,056 ALS patients and 3,958 controls (p = 0.026; combined analysis p = 1.01 × 10(-7) ). INTERPRETATION: We identified common genetic variants in C9orf72, but in addition in UNC13A that are shared between ALS and FTD. UNC13A provides a novel link between ALS and FTD-TDP, and identifies changes in neurotransmitter release and synaptic function as a converging mechanism in the pathogenesis of ALS and FTD-TDP.


Assuntos
Esclerose Lateral Amiotrófica/genética , Demência Frontotemporal/genética , Estudo de Associação Genômica Ampla/métodos , Proteínas do Tecido Nervoso/genética , Proteínas/genética , Proteína C9orf72 , Cromossomos Humanos Par 19/genética , Cromossomos Humanos Par 9/genética , Expansão das Repetições de DNA/genética , Estudo de Associação Genômica Ampla/tendências , Humanos , Mutação , Polimorfismo de Nucleotídeo Único/genética
4.
J Neurol Neurosurg Psychiatry ; 86(11): 1172-9, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25935892

RESUMO

BACKGROUND: Motor Unit Number Index (MUNIX) is a novel neurophysiological measure that provides an index of the number of functional lower motor neurons in a given muscle. So far its performance across centres in patients with amyotrophic lateral sclerosis (ALS) has not been investigated. OBJECTIVE: To perform longitudinal MUNIX recordings in a set of muscles in a multicentre setting in order to evaluate its value as a marker of disease progression. METHODS: Three centres applied MUNIX in 51 ALS patients over 15 months. Six different muscles (abductor pollicis brevis, abductor digiti minimi, biceps brachii, tibialis anterior, extensor dig. brevis, abductor hallucis) were measured every 3 months on the less affected side. The decline between MUNIX and ALSFRS-R was compared. RESULTS: 31 participants reached month 12. For all participants, ALSFRS-R declined at a rate of 2.3%/month. Using the total score of all muscles, MUNIX declined significantly faster by 3.2%/month (p ≤ 0.02). MUNIX in individual muscles declined between 2.4% and 4.2%, which differed from ASLFRS-R decline starting from month 3 (p ≤ 0.05 to 0.002). Subgroups with bulbar, lower and upper limb onset showed different decline rates of ALSFRS-R between 1.9% and 2.8%/month, while MUNIX total scores showed similar decline rates over all subgroups. Mean intraclass correlation coefficient for MUNIX intra-rater reliability was 0.89 and for inter-rater reliability 0.80. CONCLUSION: MUNIX is a reliable electrophysiological biomarker to track lower motor neuron loss in ALS.


Assuntos
Esclerose Lateral Amiotrófica/patologia , Neurônios Motores/patologia , Músculo Esquelético/patologia , Adulto , Idoso , Estudos de Coortes , Progressão da Doença , Eletromiografia , Feminino , Lateralidade Funcional , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Variações Dependentes do Observador , Reprodutibilidade dos Testes , Resultado do Tratamento
5.
Eur Radiol ; 25(11): 3133-42, 2015 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-26032878

RESUMO

OBJECTIVE: Our aim was to prospectively investigate whether the recently introduced suction/inspiration against resistance breathing method leads to higher computed tomography (CT) contrast density in the pulmonary artery compared to standard breathing. MATERIAL AND METHODS: The present study was approved by the Medical Ethics committee and all subjects gave written informed consent. Fifteen patients, each without suspicious lung emboli, were randomly assigned to four different groups with different breathing maneuvers (suction against resistance, Valsalva, inspiration, expiration) during routine CT. Contrast enhancement in the central and peripheral sections of the pulmonary artery were measured and compared with one another. RESULTS: Peripheral enhancement during suction yielded increased mean densities of 138.14 Hounsfield units (HU) (p = 0.001), compared to Valsalva and a mean density of 67.97 HU superior to inspiration (p = 0.075). Finally, suction in comparison to expiration resulted in a mean increase of 30.51 HU (p = 0.42). Central parts of pulmonary arteries presented significantly increased enhancement values (95.74 HU) for suction versus the Valsalva technique (p = 0.020), while all other mean densities were in favour of suction (versus inspiration: p = 0.201; versus expiration: p = 0.790) without reaching significance. CONCLUSION: Suction/Inspiration against resistance is a promising technique to improve contrast density within pulmonary vessels, especially in the peripheral parts, in comparison to other breathing maneuvers. KEY POINTS: • Suction/Inspiration against resistance is promising to improve contrast density within the pulmonary artery. • Patients potentially suffering pulmonary embolism are able to follow suction/inspiration against resistance. • Contrast density after suction is superior in comparison to other breathing maneuvers.


Assuntos
Meios de Contraste/administração & dosagem , Artéria Pulmonar/diagnóstico por imagem , Intensificação de Imagem Radiográfica/métodos , Técnicas de Imagem de Sincronização Respiratória/métodos , Tomografia Computadorizada por Raios X/métodos , Administração Intravenosa , Adulto , Idoso , Expiração/fisiologia , Feminino , Humanos , Processamento de Imagem Assistida por Computador/métodos , Inalação/fisiologia , Iohexol/administração & dosagem , Iohexol/análogos & derivados , Masculino , Pessoa de Meia-Idade , Projetos Piloto , Estudos Prospectivos , Sistemas de Informação em Radiologia , Sucção , Manobra de Valsalva
7.
Praxis (Bern 1994) ; 113(4): 93-98, 2024 Apr.
Artigo em Alemão | MEDLINE | ID: mdl-38779792

RESUMO

INTRODUCTION: Background: This work deals with the question of which digital touchpoints in the course of a patient journey are desired by neurological patients, important for effective treatment and easy to implement. Methodology: 100 (44 men, 56 women) patients in a neurological practice at three different locations were examined using a written questionnaire with closed questions on topics of online booking, making appointments and reminders via SMS, video consultation with the doctor and chat with the doctor or the medical practice assistant. Results: It was shown that the older a person is, the less they prefer digital booking and consultation and that the more they work, the more they prefer digital booking and consultation and the longer they live in Switzerland, the less they prefer chat advice. Data protection plays a more important role in older patients. Regarding gender no significant differences can be shown. Discussion: The results are in line with a survey conducted by the Swiss Medical Association (Foederatio Medicorum Helveticorum) of 2020, which shows that the population wants to relieve the burden on doctors in administrative tasks through the use of digital solutions considered desirable. In this study, both younger and older patients are very interested in booking appointments online and to receive an appointment reminder via text message. Since older patients tend to prefer conservative booking, a «hybrid model¼ should be offered so that both options are available.


Assuntos
COVID-19 , Envio de Mensagens de Texto , Humanos , Masculino , Feminino , Suíça , Pessoa de Meia-Idade , Idoso , Adulto , Inquéritos e Questionários , Agendamento de Consultas , Doenças do Sistema Nervoso/diagnóstico , Doenças do Sistema Nervoso/terapia , Relações Médico-Paciente , Sistemas de Alerta , Preferência do Paciente , Adulto Jovem , Idoso de 80 Anos ou mais , Fatores Etários
8.
J Clin Med ; 13(10)2024 May 14.
Artigo em Inglês | MEDLINE | ID: mdl-38792448

RESUMO

Background: Cannabinoid oro-mucosal spray nabiximols is approved for patients with moderate to severe multiple sclerosis spasticity (MSS) resistant to other antispastic medications. Few real-world data are available on the effectiveness, safety and patients' satisfaction in MS patients treated with nabiximols as monotherapy. Methods: To investigate the effectiveness, tolerability and satisfaction of nabiximols in a real-life multicentric Swiss cohort as monotherapy or with stable doses of other antispastic medications, and explore clinical features which may predict treatment response. The following data were collected at treatment start (baseline) and 12 weeks thereafter: Modified Ashworth scale (MAS), scores at numerical rating scales ranging from 0 (absent) to 10 (considerable) for effect on spasticity (sNRS), pain (pNRS), gait (gNRS), urinary symptoms (uNRS), tolerability (tNRS) as assessed by the treating neurologist, and overall treatment satisfaction (TsNRS) and tolerability (tNRS) as assessed by the patient. Results: Ninety-five patients (44 relapsing remitting, 37 secondary progressive and 14 primary progressive MS; median age = 53 (IQR 45-62); female 70%; median EDSS 6 (IQR 4-6), concomitant antispastic treatments in 54% of patients) were included. From baseline to week 12, median MAS score decreased from 3.0 to 2.0 (p < 0.001). Median scores of the each NRS also significantly decreased (p < 0.001 for all comparisons). At week 12, the median TsNRS and tTS scores were 8/10 (IQR: 6-9) and 9/10 (IQR: 7-10), respectively, and 93.7% of patients continued to use nabiximols at the average dose of six sprays/day. No clinical factors, including use of nabiximols as add on vs. monotherapy, were associated with responder status. Conclusions: Our first Swiss, multicentric, observational, real-life study supports and enhances previous finding of nabiximols as monotherapy and as add-on therapy, being an effective, safe and well-tolerated treatment option for resistant MS spasticity and spasticity-related symptoms (pain, bladder dysfunction and gait).

9.
Praxis (Bern 1994) ; 112(9): 441-445, 2023 Jul.
Artigo em Alemão | MEDLINE | ID: mdl-37632433

RESUMO

INTRODUCTION: A lesion of the median nerve due to nerve compression comparable to carpal tunnel syndrome is very common, with an incidence of 3.3 to 3.45 cases per 1000 inhabitants and year. In the present case series, we report compressions of the -median nerve due to wearing a smartwatch, which to our knowledge has not been previously reported in the literature. We -describe five patients with typical carpal tunnel symptoms and pathological sensory neurography who had been wearing a smartwatch more than 24 hours/day for several weeks to detect atrial fibrillation, and whose symptoms and electrophysiology improved after they stopped wearing it. Smartwatches can be an interesting additional gadget for diagnosing diseases such as cardiac arrhythmias. However, the tight wearing that is necessary can possibly also compress the median nerve and lead to symptoms such as the carpal tunnel syndrome. According to the manufacturer, it is important to choose the right strap size when buying and only leave the watch very tight when you need the sensors (but without feeling uncomfortable) and otherwise to tie the strap loosely, to take it off or alternate the wrist in order to avoid pain and injury.


Assuntos
Fibrilação Atrial , Síndrome do Túnel Carpal , Humanos , Nervo Mediano , Síndrome do Túnel Carpal/diagnóstico , Síndrome do Túnel Carpal/etiologia , Punho , Fibrilação Atrial/diagnóstico , Emoções
10.
Neurochem Res ; 37(2): 381-6, 2012 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21984200

RESUMO

The hypothalamic paraventricular nucleus (PVN) is a key site for regulating neuroendocrine functions in the magnocellular part and autonomic activities in the parvocellular part. Its anatomical proximity to the third ventricle could be a good target for intrathecal injection of baclofen. We investigated the correlation of intrathecal application of baclofen (a specific GABAB receptor agonist) and the release of epinephrine, norepinephrine, dopac, homovanillinic acid (HVA), glutamate and aspartate from the PVN. The decomposition products HVA, dopa and dopac of norepinephrine, epinephrine and dopamine, respectively, were used as parameters for the secretion of dopamine. We implanted a microdialysis probe in the PVN of 25 Wistar rats. In 13 rats, 1.5 µg baclofen was injected in the lateral ventricle and the equivalent quantity of Ringer's lactate solution injected in the remaining 12 rats as a control group. Neurotransmitters and amino acids were quantified by high-performance liquid chromatography. There was a conspicuous but not significant effect of baclofen concerning the secretion of epinephrine, norepinephrine, dopac, glutamate and aspartate from the PVN. A significant increase in HVA concentration was observed only in rats treated with baclofen compared with the control group. These findings suggest that baclofen influences the secretion of neurotransmitters and amino acids involved in autonomic activities mediated by GABAB receptors.


Assuntos
Baclofeno/farmacologia , Pressão Sanguínea/efeitos dos fármacos , Neurotransmissores/metabolismo , Núcleo Hipotalâmico Paraventricular/efeitos dos fármacos , Animais , Baclofeno/administração & dosagem , Cromatografia Líquida de Alta Pressão , Injeções Intraventriculares , Masculino , Microdiálise , Núcleo Hipotalâmico Paraventricular/metabolismo , Ratos , Ratos Wistar
11.
Praxis (Bern 1994) ; 110(1): 21-25, 2022 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-34983204

RESUMO

Brivaracetam - A Good Alternative in the Acute Treatment of Trigeminal Neuralgia Abstract. In trigeminal neuralgia there is brief neuropathic pain in the supply area of the trigeminal nerve. A distinction is made between classic, symptomatic, and idiopathic trigeminal neuralgia. Only a few drugs are available for acute treatment. In the presented case series, we report on five patients with trigeminal neuralgia of various origins who responded well to treatment with brivaracetam. Brivaracetam binds to the synaptic vesicle protein 2A, which is also found on nerves and nerve roots. SV2 regulates the exocytotic release of neurotransmitters, which may explain the effect of brivaracetam on neuropathic pain. The use of brivaracetam can be helpful in the short-term therapy of paroxysmal pain with trigeminal neuralgia. Further studies are required to demonstrate this effect and to rule out a placebo effect.


Assuntos
Neuralgia , Neuralgia do Trigêmeo , Humanos , Pirrolidinonas/uso terapêutico , Neuralgia do Trigêmeo/tratamento farmacológico
12.
Tomography ; 8(1): 257-266, 2022 01 24.
Artigo em Inglês | MEDLINE | ID: mdl-35202186

RESUMO

Radiculopathy can be caused by nerve root irritation and nerve root compression at the level of the lateral recess or at the level of the intervertebral foramen. T2-weighted (T2w) MRI is considered essential to evaluate the nerve root and its course, starting at the lateral recess through the intervertebral foramen to the extraforaminal space. With the introduction of novel MRI acceleration techniques such as compressed SENSE, standard-resolution 2D T2w turbo spin echo (TSE) sequences with a slice-thickness of 3-4 mm can be replaced with high-resolution isotropic 3D T2w TSE sequences with sub-millimeter resolution without prolonging scan time. With high-resolution 3D MRI, the course of the nerve root can be visualized more precisely due to a detailed depiction of the anatomical situation and less partial volume effects, potentially allowing for a better detection of nerve root compromise. In this intra-individual comparison study, 55 patients with symptomatic unilateral singular nerve root radiculopathy underwent MRI with both 2D standard- and 3D high-resolution T2w TSE MRI sequences. Two readers graded the degree of lumbar lateral recess stenosis and lumbar foraminal stenosis twice on both image sets using previously validated grading systems in an effort to quantify the inter-readout and inter-sequence agreement of scores. Inter-readout agreement was high for both grading systems and for 2D and 3D imaging (Kappa = 0.823-0.945). Inter-sequence agreement was moderate for both lumbar lateral recess stenosis (Kappa = 0.55-0.577) and lumbar foraminal stenosis (Kappa = 0.543-0.572). The percentage of high degree stenosis with nerve root deformity increased from 16.4%/9.8% to 41.8-43.6%/34.1% from 2D to 3D images for lateral recess stenosis/foraminal stenosis, respectively. Therefore, we show that while inter-readout agreement of grading systems is high for both standard- and high-resolution imaging, the latter outperforms standard-resolution imaging for the visualization of lumbar nerve root compromise.


Assuntos
Imageamento por Ressonância Magnética , Radiculopatia , Imagem de Difusão por Ressonância Magnética , Humanos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Radiculopatia/diagnóstico por imagem , Raízes Nervosas Espinhais/diagnóstico por imagem
13.
Br J Radiol ; 95(1135): 20210354, 2022 Jul 01.
Artigo em Inglês | MEDLINE | ID: mdl-34762522

RESUMO

OBJECTIVES: To compare a novel 3D spiral gradient echo (GRE) sequence with a conventional 2D cartesian turbo spin echo (TSE) sequence for sagittal contrast-enhanced (CE) fat-suppressed (FS) T1 weighted (T1W) spine MRI. METHODS: In this inter-individual comparison study, 128 patients prospectively underwent sagittal CE FS T1W spine MRI with either a 2D cartesian TSE ("TSE", 285 s, 64 patients) or a 3D spiral GRE sequence ("Spiral", 93 s, 64 patients). Between both groups, patients were matched in terms of anatomical region (cervical/thoracic/lumbar spine and sacrum). Three readers used 4-point Likert scales to assess images qualitatively in terms of overall image quality, presence of artifacts, spinal cord visualization, lesion conspicuity and quality of fat suppression. RESULTS: Spiral achieved a 67.4% scan time reduction compared to TSE. Interreader agreement was high (alpha=0.868-1). Overall image quality (4;[3,4] vs 3;[3,4], p<0.001 - p=0.002 for all readers), presence of artifacts (4;[3,4] vs 3;[3,4] p=0.027 - p=0.046 for all readers), spinal cord visualization (4;[4,4] vs 4;[3,4], p<0.001 for all readers), lesion conspicuity (4;[4,4] vs 4;[4,4], p=0.016 for all readers) and quality of fat suppression (4;[4,4] vs 4;[4,4], p=0.027 - p=0.033 for all readers), were all deemed significantly improved by all three readers on Spiral images as compared to TSE images. CONCLUSION: We demonstrate the feasibility of a novel 3D spiral GRE sequence for improved and rapid sagittal CE FS T1W spine MRI. ADVANCES IN KNOWLEDGE: A 3D spiral GRE sequence allows for improved sagittal CE FS T1W spine MRI at very short scan times.


Assuntos
Artefatos , Imageamento por Ressonância Magnética , Humanos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Neuroimagem/métodos , Pelve , Coluna Vertebral
14.
Eur J Radiol Open ; 8: 100377, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34611530

RESUMO

PURPOSE: To investigate the diagnostic yield of low to ultra-high b-values for the differentiation of benign from malignant vertebral fractures using a state-of-the-art single-shot zonal-oblique-multislice spin-echo echo-planar diffusion-weighted imaging sequence (SShot ZOOM SE-EPI DWI). MATERIALS AND METHODS: 66 patients (34 malignant, 32 benign) were examined on 1.5 T MR scanners. ADC maps were generated from b-values of 0,400; 0,1000 and 0,2000s/mm2. ROIs were placed into the fracture of interest on ADC maps and trace images and into adjacent normal vertebral bodies on trace images. The ADC of fractures and the Signal-Intensity-Ratio (SIR) of fractures relative to normal vertebral bodies on trace images were considered quantitative metrics. The appearance of the fracture of interest was graded qualitatively as iso-, hypo-, or hyperintense relative to normal vertebrae. RESULTS: ADC achieved an area under the curve (AUC) of 0.785/0.698/0.592 for b = 0,400/0,1000/0,2000s/mm2 ADC maps respectively. SIR achieved an AUC of 0.841/0.919/0.917 for b = 400/1000/2000s/mm2 trace images respectively. In qualitative analyses, only b = 2000s/mm2 trace images were diagnostically valuable (sensitivity:1, specificity:0.794). Machine learning models incorporating all qualitative and quantitative metrics achieved an AUC of 0.95/0.98/0.98 for b-values of 400/1000/2000s/mm2 respectively. The model incorporating only qualitative metrics from b = 2000s/mm2 achieved an AUC of 0.97. CONCLUSION: By using quantitative and qualitative metrics from SShot ZOOM SE-EPI DWI, benign and malignant vertebral fractures can be differentiated with high diagnostic accuracy. Importantly qualitative analysis of ultra-high b-value images may suffice for differentiation as well.

15.
BJR Case Rep ; 6(2): 20190122, 2020 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-33029379

RESUMO

Cerebral nocardiosis abscess is a very rare entity in an immunocompetent patient. In this case report multiparametric and multimodality MR imaging characteristics of a pyogenic brain abscess caused by Nocardia Farcinica are discussed with a specific focus on amide proton transfer weighted imaging as a modern non-invasive, molecular MR imaging method which detects endogenous mobile protein and peptide concentration and tissue pH changes in pathologic brain lesions. The imaging characteristics are reviewed and discussed in respect to possible differential diagnoses, especially malignant tumorous lesions.

16.
Praxis (Bern 1994) ; 108(1): 37-44, 2019 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-30621546

RESUMO

Genetics of Amyotrophic Lateral Sclerosis Abstract. In recent years, the knowledge of gene mutation that can lead to amyotrophic lateral sclerosis (ALS), frontotemporal dementia, or a FTD-ALS complex has been drastically improvedwith the help of next-generation sequencing (NGS), so that many new genes and their molecular genetic mechanisms and symptoms of the patients could be described. For example it was found that in the same family with the same gene mutation patients with ALS, FTD or another neurodegenerative disease can be found. The knowledge about the genes does not only contribute to the understanding of these diseases, but should help develop new therapeutic possibilities.


Assuntos
Esclerose Lateral Amiotrófica , Demência Frontotemporal , Esclerose Lateral Amiotrófica/genética , Demência Frontotemporal/genética , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Mutação
17.
Neurol Res Int ; 2019: 7397491, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31827926

RESUMO

OBJECTIVE: Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease with involvement of the upper and lower motor neurons. Since the loss of fine motor skills is one of the earliest signs of ALS, the hypothesis was tested if the nine hole PEG test (NHPT) and transcranial magnet stimulation (TMS) with resting-motor threshold (RMT) could be useful in monitoring disease progression. METHODS: We examined 28 ALS patients and 27 age-matched healthy controls. ALS patients and healthy controls underwent the nine hole peg test (NHPT) and TMS with RMT. Measurements in patients were repeated after three and six months. RESULTS: At baseline, the median NHPT durations were 1,4-fold longer (p < 0.001), and TMS scores showed a significant 0.8-fold smaller score in ALS patients compared with healthy controls (p < 0.001). The comparison of three and six months versus baseline revealed significant differences for NHPT durations and ALSFRS-R in patients, whereas TMS scores did not significantly differ in the patients. CONCLUSION: NHPT seems to be a good tool to evaluate dexterity of the hand and the progression of the disease in ALS patients. TMS RMT to the hand muscles seems to be poorly qualified to evaluate the dexterity of the hand function and the course of the disease.

18.
Clin Neuroradiol ; 29(3): 493-503, 2019 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29460142

RESUMO

In the current work two novel parameters, fiber density (FD) and mean diffusion signal (MDS) are investigated for evaluating neurodegenerative processes in amyotrophic lateral sclerosis (ALS). The MDS provides a measure of the FD but is derived directly from the diffusion signal. Using tract-based spatial statistics (TBSS), pathological changes across the entire white matter and changes in the parameters over time were evaluated. The results were related to those obtained using the fractional anisotropy (FA) value. A widespread pattern of significantly decreased FD and MDS values was observed. A strong trend towards statistical significance was seen in similar white matter structures using TBSS analysis based on the FA value. Longitudinal analysis of the FD values demonstrated continuing deterioration of the same fiber tracts that were shown to be impaired in the group analysis. The findings suggest that MDS and in particular FD show great promise for evaluating microstructural white matter changes in ALS and may be more sensitive than the more commonly used FA value.


Assuntos
Esclerose Lateral Amiotrófica/diagnóstico por imagem , Imagem de Tensor de Difusão/métodos , Degeneração Neural/diagnóstico por imagem , Substância Branca/diagnóstico por imagem , Idoso , Idoso de 80 Anos ou mais , Esclerose Lateral Amiotrófica/patologia , Anisotropia , Estudos de Casos e Controles , Feminino , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Degeneração Neural/patologia , Fatores de Tempo , Substância Branca/patologia , Substância Branca/ultraestrutura
19.
Front Neurol ; 10: 1307, 2019.
Artigo em Inglês | MEDLINE | ID: mdl-31920930

RESUMO

Objectives: To assess the ability of 3D amide proton transfer weighted (APTw) imaging based on magnetization transfer analysis to discriminate between multiple sclerosis lesions (MSL) and white matter hyperintensities of presumed vascular origin (WMH) and to compare APTw signal intensity of healthy white matter (healthy WM) with APTw signal intensity of MSL and WHM. Materials and Methods: A total of 27 patients (16 female, 11 males, mean age 39.6 years) with multiple sclerosis, 35 patients (17 females, 18 males, mean age 66.6 years) with small vessel disease (SVD) and 20 healthy young volunteers (9 females, 11 males, mean age 29 years) were included in the MSL, the WMH, and the healthy WM group. MSL and WMH were segmented on fluid attenuated inversion recovery (FLAIR) images underlaid onto APTw images. Histogram parameters (mean, median, 10th, 25th, 75th, 90th percentile) were calculated. Mean APTw signal intensity values in healthy WM were defined by "Region of interest" (ROI) measurements. Wilcoxon rank sum tests and receiver operating characteristics (ROC) curve analyses of clustered data were applied. Results: All histogram parameters except the 75 and 90th percentile were significantly different between MSL and WMH (p = 0.018-p = 0.034). MSL presented with higher median values in all parameters. The histogram parameters offered only low diagnostic performance in discriminating between MSL and WMH. The 10th percentile yielded the highest diagnostic performance with an AUC of 0.6245 (95% CI: [0.532, 0.717]). Mean APTw signal intensity values of MSL were significantly higher than mean values of healthy WM (p = 0.005). The mean values of WMH did not differ significantly from the values of healthy WM (p = 0.345). Conclusions: We found significant differences in APTw signal intensity, based on straightforward magnetization transfer analysis, between MSL and WMH and between MSL and healthy WM. Low AUC values from ROC analyses, however, suggest that it may be challenging to determine type of lesion with APTw imaging. More advanced analysis of the APT CEST signal may be helpful for further differentiation of MSL and WMH.

SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA