Neurological symptoms

神经症状
  • 文章类型: Journal Article
    乳糜泻(CD)是一种由遗传易感个体的麸质摄入引发的慢性自身免疫性疾病,表现出延伸到胃肠道以外的各种症状。该疾病的系统性由其消化外表现证明,可以影响包括皮肤在内的各种器官,接头,肝脏,和神经系统。
    这是描述性的,回顾性研究在三级护理中心进行,重点关注诊断为CD并表现出消化道外症状的成年患者。数据来自2010年1月1日至2024年6月30日期间收治的患者的医疗记录。变量包括人口统计信息,初步诊断,和相关的消化外表现。采用描述性统计方法进行数据分析。
    样本包括108名CD患者,平均年龄是43.21岁,以女性为主(76.85%)。缺铁性贫血是最常见的消化道外表现,影响了20.37%的患者,其次是低蛋白血症(18.52%)和桥本氏甲状腺炎(14.81%)。共现分析揭示了条件的频繁组合,如心血管疾病贫血和抑郁症。还观察到与神经疾病如谷蛋白共济失调和周围神经病变的显著关联。
    这项研究强调了乳糜泻的广泛的消化外表现,强调其系统性影响。自身免疫性疾病如桥本氏甲状腺炎和类风湿性关节炎在CD患者中的高患病率反映了对整体管理策略的需要。我们的发现与现有文献之间的差异,特别是关于皮肤和神经疾病,强调需要进一步研究,以更好地了解这些关联和无麸质饮食的长期影响。
    UNASSIGNED: Celiac disease (CD) is a chronic autoimmune disorder triggered by gluten ingestion in genetically predisposed individuals, presenting with a diverse range of symptoms that extend beyond the gastrointestinal tract. The condition\'s systemic nature is evidenced by its extra-digestive manifestations, which can affect various organs including the skin, joints, liver, and nervous system.
    UNASSIGNED: This descriptive, retrospective study was conducted at a tertiary care center, focusing on adult patients diagnosed with CD who exhibited extra-digestive symptoms. Data were extracted from medical records of patients admitted between January 1, 2010 and June 30, 2024. Variables included demographic information, primary diagnosis, and associated extra-digestive manifestations. Descriptive statistical methods were employed for data analysis.
    UNASSIGNED: The sample included 108 patients with CD, the mean age was 43.21 years, with a predominance of females (76.85%). Iron deficiency anemia was the most common extra-digestive manifestation, affecting 20.37% of patients, followed by hypoproteinemia (18.52%) and Hashimoto\'s thyroiditis (14.81%). Co-occurrence analysis revealed frequent combinations of conditions, such as anemia with cardiovascular diseases and depressive disorders. Notable associations with neurological conditions like gluten ataxia and peripheral neuropathy were also observed.
    UNASSIGNED: This study highlights the extensive extra-digestive manifestations of celiac disease, underscoring its systemic impact. The high prevalence of autoimmune conditions such as Hashimoto\'s thyroiditis and rheumatoid polyarthritis among CD patients reflects the need for holistic management strategies. Discrepancies between our findings and existing literature, particularly regarding skin and neurological conditions, emphasize the need for further research to better understand these associations and the long-term effects of a gluten-free diet.
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  • 文章类型: Case Reports
    :COVID-19可引起呼吸道症状,以及各种并发症和后遗症。该报告描述了一名感染COVID-19后由脊髓海绵状血管瘤引起的神经系统症状恶化的患者。海绵状血管瘤通常发生在大脑的上部(70%-90%),很少发生在脊髓(5%-7%)。大约65%的脊髓内海绵状血管瘤有神经系统症状,超过一半的病例显示症状缓慢恶化。这是一例罕见的髓内脊髓海绵状血管瘤伴膀胱直肠受累,COVID-19感染后神经系统症状迅速恶化。
    :一名30多岁的妇女因COVID-19感染后下肢肌肉无力和膀胱直肠功能紊乱突然发作而入院。她被诊断为脊髓肿瘤出血,并接受了紧急切除。病理诊断为脊髓海绵状血管瘤。起初,她患有脊髓损伤(第三胸椎;美国脊髓损伤协会损害量表,C;弗兰克尔分类,B;膀胱直肠损伤),但两个月后,她开始用膝踝足矫形器和双杠走路。三个月后,她可以用轮椅在病房里独立走动。出院时,患者可以使用踝足矫形器和Lofstrand拐杖行走。
    :COVID-19与各种肺外表现有关,在脊髓髓内海绵状血管瘤病例中可能增加出血的风险。
    UNASSIGNED: : COVID-19 can cause respiratory symptoms, as well as various complications and sequelae. This report describes a patient with worsening neurological symptoms caused by a spinal cavernous hemangioma after infection with COVID-19. Cavernous hemangioma usually occurs in the upper part of the brain (70%-90%) and rarely occurs in the spinal cord (5%-7%). Approximately 65% of cases of intramedullary spinal cavernous hemangioma present with neurological symptoms, and more than half of these cases show a slow worsening of symptoms. This is a rare case of intramedullary spinal cavernous hemangioma with cysto-rectal involvement in which neurological symptoms rapidly worsened following COVID-19 infection.
    UNASSIGNED: : A woman in her 30s was admitted to the hospital because of the sudden onset of muscle weakness in both lower limbs and cysto-rectal disturbances after COVID-19 infection. She was diagnosed with a hemorrhage from a spinal cord tumor and underwent emergency resection. The pathological diagnosis was a spinal cavernous hemangioma. At first, she had a spinal cord injury (third thoracic vertebrae; American Spinal Injury Association Impairment Scale, C; Frankel classification, B; with cysto-rectal impairment), but 2 months later, she started walking with knee-ankle-foot orthoses and parallel bars. After 3 months, she could move independently around the ward using a wheelchair. Upon discharge, the patient could walk with ankle-foot orthoses and Lofstrand crutches.
    UNASSIGNED: : COVID-19 is associated with various extrapulmonary manifestations and may increase the risk of hemorrhage in cases of intramedullary spinal cavernous hemangioma.
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    文章类型: Case Reports
    Dengue virus is an endemic virus in Argentina that, although it was initially considered to be non-neurotropic, it is currently recognized to be neuroinvasive; thus conditioning a prevalence of neurological manifestations of up to 15% among patients. Even being considered severe symptoms, there is underdiagnoses of dengue encephalitis due to its varied clinical presentation. Neurological manifestations of dengue encephalitis can range from fever and headache to altered levels of consciousness and seizures. Although the cerebrospinal fluid may be normal in up to a third of cases, it usually presents increased protein concentration and pleocytosis. Regarding neuroimaging methods, the findings are usually varied and nonspecific, and can even be normal in up to 40-50% of cases. We present three cases of dengue encephalitis diagnosed in a university hospital in Buenos Aires, Argentina, where the clinical presentation varied from temporal-spatial disorientation to refractory convulsive status with different presentations in the cerebrospinal fluid but all with positive PCR for dengue in it and with normal neuroimaging.
    El virus dengue es un virus endémico en Argentina que, si bien inicialmente se consideró que no era neurotrópico, actualmente se reconoce que tiene neuroinvasión, condicionando así una prevalencia de manifestaciones neurológicas de hasta el 15% entre los enfermos. Aun siendo considerados síntomas de gravedad, existe subdiagnóstico de encefalitis por dengue debido a su variada forma de presentación clínica. Las manifestaciones neurológicas de la encefalitis por dengue pueden abarcar desde fiebre y cefalea hasta alteraciones del nivel de conciencia y convulsiones. Si bien el líquido cefalorraquídeo (LCR) puede hallarse normal en hasta un tercio de los casos, lo habitual es que presente aumento de concentración de proteínas y pleocitosis. En cuanto a los métodos de neuroimagen, los hallazgos suelen ser variados e inespecíficos, e incluso pueden ser normales hasta en 40-50% de los casos. Se presentan 3 casos de encefalitis por dengue diagnosticados en un hospital universitario de Buenos Aires, Argentina, en donde la presentación clínica varió desde desorientación témporo-espacial hasta estatus convulsivo refractario con diferentes presentaciones en el LCR pero todos con PCR positivo para dengue y con neuroimágenes sin alteraciones.
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  • 文章类型: Journal Article
    2019年冠状病毒病(COVID-19)的全球影响以众多大流行高峰为标志,归因于其高变异性和传染性。将其转变为持续存在的全球公共卫生问题。全球报告了数以亿计的病例,该疾病是由严重急性呼吸道综合症冠状病毒2(SARS-CoV-2)引起的。尽管它最初被归类为急性呼吸道疾病,最近的证据表明,对各种身体系统的挥之不去的影响,比如心血管,肺,紧张,胃肠(GI),和骨骼肌肉,可能会远远超过急性期。这些持续的表现在COVID-19之后,通常被称为长COVID,有可能影响整个疾病严重程度的个体,在轻度至中度病例中更普遍。目前,没有既定的诊断标准。尽管如此,它被概念化为多器官疾病,包括各种临床表现。最常见的,持久性,长COVID的衰弱症状可能是神经系统的,称为COVID-19急性后遗症(NC-PASC)的神经系统并发症。超过三分之一的既往有SARS-CoV-2感染的个体表现出中枢神经系统(CNS)和周围神经系统(PNS)的受累。在观察性研究中,神经系统症状的发生率大约高出三倍。长期COVID的持续神经系统症状包括疲劳,头痛,认知能力下降,“脑雾”,自主神经失调,神经精神问题,嗅觉丧失(嗅觉丧失),味觉丧失(迷幻),和周围神经问题(周围神经病变)。报道的致病机制包括病毒持续存在和SARS-CoV-2,神经炎症,自身免疫,凝血病,和内皮病。提高对潜在并发症的认识对于预防和减轻长期COVID的长期影响以及改善患病患者的预后至关重要。这篇综述探讨了NC-PASC的假设病理生理机制和途径,其唯一目的是提高对这种严重疾病的认识。
    The global impact of coronavirus disease 2019 (COVID-19) marked by numerous pandemic peaks is attributed to its high variability and infectious nature, transforming it into a persistent global public health concern. With hundreds of millions of cases reported globally, the illness is caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Despite its initial classification as an acute respiratory illness, recent evidence indicates that lingering effects on various bodily systems, such as cardiovascular, pulmonary, nervous, gastrointestinal (GI), and musculoskeletal, may endure well beyond the acute phase. These persistent manifestations following COVID-19, commonly known as long COVID, have the potential to affect individuals across the entire range of illness severity, with a tendency to be more prevalent in mild to moderate cases. At present, there are no established criteria for diagnosing long COVID. Nonetheless, it is conceptualized as a multi-organ disorder encompassing a diverse array of clinical manifestations. The most common, persistent, and debilitating symptoms of long COVID may be neurological, known as neurological complications of post-acute sequelae of COVID-19 (NC-PASC). More than one-third of individuals with a prior SARS-CoV-2 infection show involvement of both the central nervous system (CNS) and peripheral nervous system (PNS), as evidenced by an approximately threefold higher incidence of neurological symptoms in observational studies. The persistent neurological symptoms of long COVID encompass fatigue, headache, cognitive decline, \"brain fog\", dysautonomia, neuropsychiatric issues, loss of smell (anosmia), loss of taste (ageusia), and peripheral nerve problems (peripheral neuropathy). Reported pathogenic mechanisms encompass viral persistence and neuro-invasion by SARS-CoV-2, neuroinflammation, autoimmunity, coagulopathy, and endotheliopathy. Raising awareness of potential complications is crucial for preventing and alleviating the long-term effects of long COVID and enhancing the prognosis for affected patients. This review explores the hypothetical pathophysiological mechanisms and pathways of NC-PASC with a sole aim to increase awareness about this crippling disease.
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  • 文章类型: Case Reports
    戊型肝炎病毒(HEV)可引起急性病毒性肝炎,有或没有神经系统表现,偶尔在免疫功能低下的个体中进展为慢性感染。由于复杂的免疫学星座,癌症患者中慢性HEV感染的管理可能具有挑战性。此外,在免疫功能低下患者中,神经系统HEV表现的诊断工作流程和对生活质量的影响之前尚未得到充分描述.
    一名61岁的男性患有全身治疗的慢性淋巴细胞白血病(CLL),由于慢性HEV感染,出现了缓慢进行性的脊髓萎缩。尽管用利巴韦林持续抗病毒治疗,病人的神经状况继续恶化,特别是在随后尝试治疗CLL之后。使用obinutuzumab治疗导致急性肠和尿潴留以及运动技能的进一步恶化。提示停用obinutuzumab。静脉注射免疫球蛋白后,患者的神经状况得到改善。
    本案例研究对患有慢性HEV感染和相关中枢神经系统受累的癌症患者进行了全面的长期随访,这导致了几年的进行性神经残疾。在接受免疫抑制癌症治疗的患者中诊断新的神经症状所面临的挑战强调了对包括HEV测试的跨学科诊断方法的需求。我们提出了一种诊断途径,用于在出现神经系统症状的免疫受损队列中进行未来验证,强调其提高临床结果的潜力。
    UNASSIGNED: The hepatitis E virus (HEV) can cause acute viral hepatitis with or without neurological manifestations, and occasionally progresses to chronic infection in immunocompromised individuals. The management of chronic HEV infection in cancer patients may be challenging due to the complex immunological constellation. Furthermore, the diagnostic workflow and the impact on quality of life of neurological HEV manifestations in immunocompromised patients have not been sufficiently delineated previously.
    UNASSIGNED: A 61-year-old male with systemically treated chronic lymphocytic leukemia (CLL) experienced a slowly progressive atrophy of the spinal cord due to a chronic HEV infection. Despite continuous antiviral treatment with ribavirin, the patient\'s neurological condition continued to deteriorate, particularly following subsequent attempts to treat CLL. Treatment with obinutuzumab resulted in acute bowel and urinary retention and a further deterioration of motor skills, prompting the discontinuation of obinutuzumab. The patient\'s neurological status improved after the administration of intravenous immunoglobulins.
    UNASSIGNED: This case study provides a comprehensive long-term follow-up of a cancer patient with chronic HEV infection and associated CNS involvement, which resulted in progressive neurological disability over several years. The challenges faced in diagnosing new neurological symptoms in patients undergoing immunosuppressive cancer treatment underscore the need for an interdisciplinary diagnostic approach that includes HEV testing. We propose a diagnostic pathway for future validation in immunocompromised cohorts presenting with neurological symptoms, emphasizing its potential to enhance clinical outcomes.
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  • 文章类型: Journal Article
    背景:感染性心内膜炎(IE)的治疗通常是医学上的,为那些未能通过医疗管理或出现并发症的人保留手术。目前,25%-50%的患者接受IE手术,立即生存率为70%-80%。然而,脑血管事件后的手术时机存在争议,发生在15%-30%的IE患者中。这项研究旨在调查IE患者的手术管理是否优于药物管理,并确定神经系统症状发展后的最佳手术时机。
    方法:回顾性收集了2012年至2018年在我们三级教学医院诊断并治疗的436例IE患者的数据。作者分析了治疗的类型,手术的时机,以及这些结果,包括死亡率,IE复发,和住院时间。
    结果:共421例患者纳入分析。超过三分之二(69.1%)的患者接受了手术干预。IE手术患者的生存率为77.2%,相比之下,未接受手术干预的患者为50.7%。6.8%的患者出现神经症状;73.3%的患者在14天内接受手术,生存率为90.9%。
    结论:这项研究发现,与单纯的医疗管理相比,手术是安全的,存活率似乎更高。尽管这可能会因为医疗组的患者不太可能接受手术而感到困惑。出现神经系统症状的患者在2周内手术是安全的,结果良好。
    BACKGROUND: Treatment for infective endocarditis (IE) is usually medical, with surgery reserved for those failing medical management or developing complications. Currently, 25%-50% of patients undergo surgery for IE with a 70%-80% immediate survival rate. However, there is controversy over the timing of surgery following cerebrovascular events, which occur in 15%-30% of IE patients. This study aimed to investigate whether surgical management is superior to medical management in patients with IE and to determine the optimal timing for surgery following the development of neurological symptoms.
    METHODS: Data were collected retrospectively between 2012 and 2018 from 436 patients diagnosed with IE and treated at our tertiary teaching hospital. The authors analysed the type of treatment, the timing of surgery, and the outcomes of these including mortality, IE recurrence, and length of hospital stay.
    RESULTS: A total of 421 patients were included in the analysis. More than two-thirds (69.1%) of patients underwent surgical intervention. The survival rate of patients having surgery for IE was 77.2%, compared to 50.7% in patients who did not undergo surgical intervention. 6.8% of patients presented with neurological symptoms; 73.3% of these patients had surgery within 14 days with a 90.9% survival.
    CONCLUSIONS: This study finds surgery to be safe with a seemingly higher survival rate compared to medical management alone, although this may be confounded by patients in the medical group being less likely to have surgery. Surgery in patients presenting with neurological symptoms is safe within 2 weeks from presentation with excellent outcomes.
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  • 文章类型: Journal Article
    长COVID(LC)的神经系统症状以及神经心理学表现对人们日常生活的影响已得到广泛描述。尽管大量文献描述了症状,用客观的措施来验证这一点很重要。这项研究旨在确定和描述长COVID对认知的影响,balance,和视网膜眼底,并确定症状的持续时间是否会影响认知障碍。
    这项横断面研究涉及来自巴塞罗那北部公共卫生中心的有认知投诉的LC志愿者,他们在2022年1月至2023年3月期间参加了这项研究。这项研究收集了社会人口统计学特征,关于物质使用的信息,合并症,以及与COVID-19相关的临床数据。我们使用一系列神经心理学测试测量了五个认知领域。平衡通过姿势造影和视网膜造影评估视网膜血管受累。
    共有166名患有LC和认知投诉的人参加了,80.72%为女性,平均年龄为49.28±8.39岁。最常见的自我报告的症状是注意力集中和记忆力不足(98.80%),脑雾(82.53%)和失眠(71.17%)。68.67%的人在至少一个领域表现出认知缺陷,执行功能最常见(43.98%)。51.52%的参与者表现出平衡失调的模式,和9.2%的视网膜显示一些改变。认知障碍和症状持续时间之间没有统计学上的显着差异。
    我们的发现有助于更全面地了解与长型COVID相关的病理。他们强调了自我报告症状的多样性,异常平衡模式的存在,和一些认知障碍。这些发现强调了通过随访和追求多学科和综合治疗来解决初级保健中这种情况的临床管理的必要性。
    UNASSIGNED: The neurological symptoms of Long COVID (LC) and the impact of neuropsychological manifestations on people\'s daily lives have been extensively described. Although a large body of literature describes symptoms, validating this with objective measures is important. This study aims to identify and describe the effects of Long COVID on cognition, balance, and the retinal fundus, and determine whether the duration of symptoms influences cognitive impairment.
    UNASSIGNED: This cross-sectional study involved LC volunteers with cognitive complaint from public health centers in northern Barcelona who participated between January 2022 and March 2023. This study collected sociodemographic characteristics, information on substance use, comorbidities, and clinical data related to COVID-19. We measured five cognitive domains using a battery of neuropsychological tests. Balance was assessed through posturography and retinal vascular involvement by retinography.
    UNASSIGNED: A total of 166 people with LC and cognitive complaints participated, 80.72% were women and mean age was 49.28 ± 8.39 years. The most common self-reported symptoms were concentration and memory deficit (98.80%), brain fog (82.53%) and insomnia (71.17%). The 68.67% presented cognitive deficit in at least one domain, with executive functions being the most frequent (43.98%). The 51.52% of the participants exhibited a dysfunctional pattern in balance, and 9.2% showed some alteration in the retina. There were no statistically significant differences between cognitive impairment and symptom duration.
    UNASSIGNED: Our findings contribute to a more comprehensive understanding of the pathology associated with Long COVID. They highlight the diversity of self-reported symptoms, the presence of abnormal balance patterns, and some cognitive impairment. These findings underscore the necessity of addressing the clinical management of this condition in primary care through follow-up and the pursuit of multidisciplinary and comprehensive treatment.
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  • 文章类型: Journal Article
    维生素B12缺乏可呈现多种神经和认知症状。尤其是老年患者,维生素B12缺乏症很容易被忽视,因为症状可能归因于合并症或仅归因于衰老过程。在这个案例研究中,我们介绍了两个病人,一个71岁的男人和一个74岁的女人,缺乏维生素B12。男性患者因肠缺血而有回肠/空肠/结肠(部分)切除史。女性患者有甲状腺功能减退症病史,2型糖尿病伴并发症(包括周围神经病变),线粒体肌病,和慢性淋巴细胞白血病.两名患者都出现了严重的疲劳,认知障碍,行走受损。在这个旁边,男性患者患有抑郁症状和轻度定向障碍,女性患者经历了神经性疼痛。她还提到了B12缺乏症的积极家族史。第一个患者的B12水平正常到高,因为他已经注射了B12(每三周一次),因为早期诊断的B12缺乏症。该女性患者的B12水平在正常范围内(全反式balamin54pmol/L),并且高半胱氨酸和甲基丙二酸水平升高证实了她的诊断。频繁注射羟钴胺和其他补充剂治疗显著改善了他们的认知,情感,和电机功能。这些病例强调了老年患者需要高度的临床怀疑,在B12水平正常但有临床症状缺乏和积极危险因素的情况下,如胃或小肠手术或阳性家族史。
    简单的语言主题两个老年患者维生素B12缺乏和神经和认知抱怨的案例研究简单的语言总结维生素B12缺乏老年患者很容易被忽视,因为症状也可能是由其他年龄相关疾病或衰老过程引起的。在我们的文章中,我们介绍了两名老年患者,一名71岁的男性和一名74岁的女性,有神经系统的抱怨,比如严重的疲劳,认知能力下降,和行走障碍。男性患者有小肠手术史,女性患者提到她有几个B12缺乏症的兄弟姐妹。此外,男性患者患有抑郁症状和轻度定向障碍,雌性的腿剧烈疼痛。由于早期的B12诊断,男性患者已经接受了B12注射,但是频率相对较低。女性患者的B12水平在正常范围内。然而,她的诊断可以通过额外的实验室测量得到证实,如高半胱氨酸和甲基丙二酸。经常注射B12和其他补充剂的治疗显着改善了他们的认知,情感,和电机功能。我们的研究表明,临床医生应仔细考虑有认知和神经系统疾病的老年患者B12缺乏的可能性,也在B12水平在正常范围内的患者中,但有危险因素,如家庭成员缺乏B12或可能损害维生素B12摄取的条件,例如以前的胃或小肠手术。
    Vitamin B12 deficiency can present with a variety of neurological and cognitive symptoms. Especially in elderly patients, vitamin B12 deficiency can be easily overlooked because symptoms may be attributed to comorbid conditions or solely to the aging process. In this case study, we present two patients, a 71-year-old man and a 74-year-old female, with vitamin B12 deficiency. The male patient had a history of (partial) resection of the ileum/jejunum/colon because of intestinal ischemia. The female patient had a history of hypothyroidism, type 2 diabetes with complications (including peripheral neuropathy), mitochondrial myopathy, and chronic lymphocytic leukemia. Both patients presented with severe fatigue, cognitive impairment, and impaired walking. Next to this, the male patient suffered from depressive symptoms and mild disorientation, and the female patient experienced neuropathic pain. She also mentioned a positive family history for B12 deficiency. The first patient had normal to high B12 levels because he was already on B12 injections (once every three weeks) because of an earlier diagnosed B12 deficiency. The female patient had B12 levels within normal range (holotranscobalamin 54 pmol/L) and her diagnosis was confirmed by elevated homocysteine and methylmalonic acid levels. Treatment with frequent hydroxocobalamin injections and other supplements significantly improved their cognitive, emotional, and motor functions. These cases underscore the need for a high level of clinical suspicion in elderly patients, also in cases of normal B12 levels but with clinical signs of deficiency and a positive risk factor, such as stomach or small bowel surgery or positive family history.
    Plain language titleA case study of two elderly patients with vitamin B12 deficiency and neurological and cognitive complaintsPlain language summaryVitamin B12 deficiency in elderly patients can be easily overlooked as symptoms can also be caused by other age-related diseases or the aging process. In our article we present two elderly patients, a 71-year-old male and a 74-year-old female, with neurological complaints, such as severe fatigue, cognitive decline, and walking impairment. The male patient had a history of small bowel surgery, and the female patient mentioned that she had several siblings with B12 deficiency. Additionally, the male patient suffered from depressive symptoms and mild disorientation, and the female had severe pain in her legs. The male patient already received B12 injections because of an earlier B12 diagnosis, but with a relatively low frequency. The B12 levels of the female patients were within the normal range. However, her diagnoses could be confirmed with additional laboratory measurements, such as homocysteine and methylmalonic acid. Treatment with frequent B12 injections and other supplements significantly improved their cognitive, emotional, and motor functions. Our study shows that clinicians should carefully consider the possibility of B12 deficiency in elderly patients with cognitive and neurological complaints, also in patients with B12 levels within the normal range, but with risk factors such as family members with B12 deficiency or conditions that may impair the vitamin B12 uptake, such as previous stomach or small bowel surgery.
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  • 文章类型: Letter
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  • 文章类型: Journal Article
    非酮症性高血糖症(NKH)是一种氨基酸代谢的遗传性疾病,其生化特征是主要在大脑中积累甘氨酸(Gly)。受影响的患者通常表现为神经症状,包括张力减退,癫痫发作,癫痫,嗜睡,和昏迷,其病理生理学仍未完全理解。治疗是有限的并且基于降低Gly水平,旨在减少N-甲基-D-天冬氨酸(NMDA)受体的过度刺激。在体外和体内动物和人类的证据最近表明,兴奋毒性,氧化应激,Gly诱导的生物能破坏是NKH神经病理学的相关机制。这篇简短的综述强调了Gly在NKH患者和动物模型大脑中的有害作用,这可能为开发这种疾病的新型辅助治疗方法提供了前景。
    Nonketotic hyperglycinemia (NKH) is an inherited disorder of amino acid metabolism biochemically characterized by the accumulation of glycine (Gly) predominantly in the brain. Affected patients usually manifest with neurological symptoms including hypotonia, seizures, epilepsy, lethargy, and coma, the pathophysiology of which is still not completely understood. Treatment is limited and based on lowering Gly levels aiming to reduce overstimulation of N-methyl-D-aspartate (NMDA) receptors. Mounting in vitro and in vivo animal and human evidence have recently suggested that excitotoxicity, oxidative stress, and bioenergetics disruption induced by Gly are relevant mechanisms involved in the neuropathology of NKH. This brief review gives emphasis to the deleterious effects of Gly in the brain of patients and animal models of NKH that may offer perspectives for the development of novel adjuvant treatments for this disorder.
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