Neurologic disorders

神经系统疾病
  • 文章类型: Review
    背景:Steinert病是一种罕见的遗传性疾病,其特征是进行性肌强直和多器官损伤。它与呼吸和心脏并发症有关,通常导致患者出院。这些情况也是严重COVID-19的传统危险因素。SARS-CoV-2已经影响到慢性病患者,但是对Steinert疾病患者的影响尚不明确,只有少数报道和描述。需要更多的数据来了解这种遗传性疾病是否是COVID-19患者更严重进化或死亡的危险因素。
    方法:该研究描述了两例SD和COVID-19患者,并总结了COVID-19在Steinert病患者中的临床结局的现有证据,通过对文献进行系统回顾(遵循PRISMA声明并进行PROSPERO注册)。
    结果:总体而言,从文献复习中检索到5例,平均年龄为47岁,其中4人患有SD晚期,不幸死亡。相比之下,来自我们临床实践的2例患者和来自文献的1例患者具有良好的临床结局.死亡率范围从57%(所有病例)到80%(仅文献综述)。
    结论:Steinert病和COVID-19患者的死亡率很高。它强调了加强预防战略的重要性,尤其是疫苗接种。所有患有SARS-CoV-2感染/COVID-19的SD患者都应及早发现并治疗以避免并发症。尚不清楚哪种治疗方案最适合这些患者。有必要对更多患者进行研究,为临床医生提供进一步的证据。
    Steinert\'s disease is a rare genetic disorder characterized by progressive myotonia and multi-organ damage. It is associated with respiratory and cardiological complications often leading patients to exitus. These conditions are also traditional risk factors for severe COVID-19. SARS-CoV-2 has affected people with chronic diseases, but the impact on people with Steinert\'s disease is poorly defined, with only a few reported and described. More data are needed to understand whether this genetic disease is a risk factor for more serious evolution or death in patients with COVID-19.
    The study describes two cases of patients with SD and COVID-19 and summarizes available evidence of the clinical outcome of COVID-19 in patients with Steinert\'s disease, by performing a systematic review of the literature (following PRISMA statements and performing PROSPERO registration).
    Overall, 5 cases were retrieved from the literature review, with a median age of 47 years, of whom 4 had advanced SD and unfortunately died. By contrast, the 2 patients from our clinical practice and 1 from literature had a good clinical outcomes. Mortality ranged from 57% (all cases) to 80% (only literature review).
    There is a high mortality rate in patients with both Steinert\'s disease and COVID-19. It highlights the importance of strengthening prevention strategies, especially vaccination. All SD with SARS-CoV-2 infection/COVID-19 patients should be identified early and treated to avoid complications. It is still unknown which treatment regimen is best to use in those patients. Studies on a greater number of patients are necessary to provide clinicians with further evidence.
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  • 文章类型: Case Reports
    我们对患有先天性神经系统疾病的纯种马驹及其表型正常的大坝进行了细胞遗传学和基因分型分析。我们表明,马驹具有26号染色体(ECA26)的非镶嵌三体性,但正常的2n=64二倍体数,因为ECA26的两个拷贝形成了亚中心衍生染色体der(26q;26q)。大坝具有正常的64,XX核型,表明小马驹的der(26q;26q)源于父母减数分裂或受精后事件的错误。对小马驹及其大坝中的ECA26微卫星进行基因分型表明,三体性ECA26可能是母体起源的,而der(26q;26q)是罗伯逊融合的结果。我们证明了常规和分子细胞遗传学方法可以准确地鉴定具有衍生染色体的非整倍性,但是确定重排的机制和亲本起源需要使用染色体特异性多态性标记进行基因分型。最奇怪的是,这是第二例三体ECA26与der(26q;26q)在马中,而所有其他马常染色体三体都是“传统的”,有三个独立的染色体。我们讨论了可能的ECA26不稳定性作为畸变的促成因素,以及可能的ECA26特异性遗传对临床表型的影响。最后,因为ECA26与人类21号染色体具有进化同源性,而这种三体会导致唐氏综合症,细胞遗传学,分子,并讨论了三体ECA26和HSA21之间的表型相似性。
    We present cytogenetic and genotyping analysis of a Thoroughbred foal with congenital neurologic disorders and its phenotypically normal dam. We show that the foal has non-mosaic trisomy for chromosome 26 (ECA26) but normal 2n = 64 diploid number because two copies of ECA26 form a metacentric derivative chromosome der(26q;26q). The dam has normal 64,XX karyotype indicating that der(26q;26q) in the foal originates from errors in parental meiosis or post-fertilization events. Genotyping ECA26 microsatellites in the foal and its dam suggests that trisomy ECA26 is likely of maternal origin and that der(26q;26q) resulted from Robertsonian fusion. We demonstrate that conventional and molecular cytogenetic approaches can accurately identify aneuploidy with a derivative chromosome but determining the mechanism and parental origin of the rearrangement requires genotyping with chromosome-specific polymorphic markers. Most curiously, this is the second case of trisomy ECA26 with der(26q;26q) in the horse, whereas all other equine autosomal trisomies are \'traditional\' with three separate chromosomes. We discuss possible ECA26 instability as a contributing factor for the aberration and likely ECA26-specific genetic effects on the clinical phenotype. Finally, because ECA26 shares evolutionary homology with human chromosome 21, which trisomy causes Down syndrome, cytogenetic, molecular, and phenotypic similarities between trisomies ECA26 and HSA21 are discussed.
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    文章类型: Journal Article
    UNASSIGNED: Dystonia is a neurological disorder, characterized by involuntary muscle spasms and tremors, resulting in abnormal movements and posture. Symptoms include pain, spasms, tremors, and dyskinesia-a difficulty in performing voluntary muscular movements. Conventional treatments include medication, botulism injections, and surgical intervention. Many dystonia patients seek complementary and alternative medicine (CAM) therapies, such as massage, but these treatments are not well documented. This clinical case study documents massage treatment for dystonia for a specific individual.
    UNASSIGNED: To examine the effects of massage therapy on pain, spasms, and dyskinesia in activities of daily living (ADL), in a patient diagnosed with dystonia as an adult, following trauma.
    UNASSIGNED: A student massage therapist administered 5 massage treatments over a six-week period to a 51-year-old female patient diagnosed with dystonia. The patient presented with symptoms of pain, spasms, tremors, and dyskinesia in ADL. Techniques applied included Swedish massage and hydrotherapy to decrease pain and spasms, and myofascial release and stretching, to decrease dyskinesia. Treatments aimed to increase overall relaxation. Remedial exercise was given to practice smoother movement patterns. Pre- and postnumeric rating scales (NRS) for pain were evaluated each session. Frequency of night pain and spasms, the Modified Bradykinesia Rating Scale (MBRS), the Timed Up and Go (TUG) test, the Functional Rating Index (FRI) and the Modified Gait Efficacy Scale (MGES) were measured at the start and end of the study.
    UNASSIGNED: Posttreatment pain intensity generally remained the same or decreased. Positive outcomes were exhibited in the frequency of night pain and spasms, TUG, MBRS, and FRI test scores. The MGES score was negatively affected.
    UNASSIGNED: The results suggest massage therapy may temporarily decrease pain intensity, pain and spasm frequency, and dyskinesia in ADL, associated with dystonia.
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  • 文章类型: Journal Article
    Background: Peripheral neuropathy (PN) is defined as damage to the peripheral nervous system caused by a primary lesion or dysfunction. Multiple recent trials have suggested that acupuncture is beneficial for treating neuropathic pain. One challenge in acupuncture research is the lack of standardization of point selection, number of needles used, needle-retention time, needling depth, amount of needle manipulation, and use of moxibustion and electroacupuncture (EA). Objectives: This article presents a standardized acupuncture protocol for the treatment of PN that incorporates structural acupuncture principles based on proximity to peripheral nerves and on traditional approaches to the treatment of neuropathic pain. Materials and Methods: Ten consecutive patients diagnosed with large- or small-fiber neuropathy of various etiologies were treated with a standardized protocol, based on anatomical correlations of peripheral nerves and acupuncture points. Manual acupuncture was applied to left LR 4, LU 5; bilateral LI 11, KI 27, ST 36, GB 34, SP 6, SP 9, LI 4, TE 5, and BaFeng (except for the space between the first and second digits of the toes; LR 3 was used for that space). EA was applied to bilateral KI 3-1 and bilateral ST 41-LR 3. Patients underwent at least six acupuncture sessions, although the total number of sessions varied. Outcomes were measured using a visual analogue scale (VAS) and clinical signs and symptoms. Results: All 10 patients indicated improvement on the VAS and in clinical presentation. Conclusions: This standardized protocol appears to be effective for the treatment of neuropathy of various causes, including large- and small-fiber involvement. Further studies with larger sample sizes and randomized comparisons against sham acupuncture and other acupuncture regimens will be helpful to determine if this protocol could be established as a guideline for approaching peripheral neuropathy.
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  • 文章类型: Journal Article
    BACKGROUND: Parkinson\'s disease (PD) is a complex neurological disorder. The disease is progressive and, in time, results in severe disability. Many patients turn to massage in an attempt to alleviate symptoms of pain and rigidity, though the effects of massage with respect to PD are not well studied. This case adds one more instance in which massage therapy has provided temporary respite from resting tremor, one unrelenting symptom of PD.
    OBJECTIVE: To determine if massage therapy can produce favorable outcomes with respect to the severity of rigidity and tremor in a patient with PD.
    METHODS: A 63-year-old female patient with idiopathic, long-standing, Hoehn-Yahr Stage 4 PD was treated with massage therapy five times over the course of six weeks. A SPES/SCOPA Motor Impairments rating scale was used to measure rigidity and tremor pre- and post-treatment, to gauge treatment effectiveness. The massage treatments consisted of deep longitudinal stroking, muscle squeezing techniques, passive range of motion movements, and general relaxation techniques to encourage a soothing environment while promoting a decrease in muscular tone and hyperactivity. Massage therapy administration was by a student near the end of her two-year diploma.
    RESULTS: The results obtained indicated that massage therapy treatment had a positive effect on reducing resting and postural tremor in a patient with long-standing PD. The treatment was also effective in temporarily reducing rigidity during treatment, but did not produce a lasting effect.
    CONCLUSIONS: Further study is required; however, the results of this case were consistent with the limited research available on the subject of massage therapy and Parkinson\'s disease, in that positive change with respect to tremor-and to a lesser degree, rigidity-were achieved with focused, intentional treatment.
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