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COVID-19 Associated Longitudinal Extensive Transverse Myelitis with Cerebral Spinal Fluid SARS-CoV-2 Detection COVID-19 与脑脊液 SARS-CoV-2 检测相关的纵向广泛横贯性脊髓炎
Q4 Medicine Pub Date : 2024-01-27 DOI: 10.46531/sinapse/cc/230058/2023
Fábio Gomes, Cláudia Lima, Cristina Valente, João Vaz, Lurdes Correia, Inês Correia
There have been multiple reports of COVID-19 associated neurological symp-toms, including several cases of para-infectious myelitis.We report a case of an 84-year-old male patient presenting with acute paraparesis coinciding with active mild COVID-19 pneumonia. Spinal cord magnetic resonance imaging (MRI) showed longitudinally extensive transverse myelitis (LETM) affecting the entire cervical cord to the tenth thoracic level, and cerebral spinal fluid (CSF) was positive for SARS-CoV-2. The patient was evaluated for other causes of LETM, which were convincingly excluded. He was treated with steroid pulses and plasmapheresis, with significant imaging improvement. The patient has since made a good recovery, being now able to walk unassisted. Although several instances of COVID-19 associated myelitis have been reported, positive identification of the virus in CSF is rare. The identification of viral material may support the hypothesis of direct spinal cord infection in co-occurrence with a para-infectious inflammatory reaction.
我们报告了一例 84 岁男性患者的病例,该患者因活动性轻度 COVID-19 肺炎而出现急性偏瘫。脊髓磁共振成像(MRI)显示,纵向广泛性横贯性脊髓炎(LETM)影响了整个颈脊髓直至第十胸椎水平,脑脊液(CSF)SARS-CoV-2呈阳性。对患者进行了评估,排除了导致 LETM 的其他原因。他接受了类固醇脉冲和血浆置换治疗,影像学症状明显改善。此后,患者恢复良好,现在可以独立行走。虽然已有多例 COVID-19 相关性脊髓炎的报道,但在脑脊液中阳性鉴定出病毒的病例并不多见。病毒物质的鉴定可能支持脊髓直接感染与副感染性炎症反应并存的假设。
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引用次数: 0
Depression in the Paediatric Population: Current Therapeutic Context and Challenges to Innovation 儿科抑郁症:当前的治疗背景和创新挑战
Q4 Medicine Pub Date : 2024-01-27 DOI: 10.46531/sinapse/ar/230029/2023
Ana Rita Rodrigues, F. Palavra, Victoria Bell, Filipa Mascarenhas-Melo, Luis Almeida, Francisco Veiga
Major depression, as a clinical condition associated with the highest rate of disability worldwide, presents very particular contours when it affects the pediatric population. The biochemical and pathophysiological changes associated with depression are naturally influenced by socioeconomic aspects and family dynamics, which contributes to great heterogeneity and variability in the symptoms expressed by children and adolescents. The COVID-19 pandemic, following the implementation of the necessary measures to mitigate the virus infection, has worsened mental illness in the general population, including the pediatric population, significantly contributing to an increase in cases of anxiety, depression and even of post-traumatic stress. This review aims to systematize the pathophysiological aspects of depression that manifests early in life, as well as its current therapeutic context, shedding some light on pharmacogenetics and the way in which multimodal drugs are designed to be used in the pediatric population. A search was conducted in the PubMed and Google Scholar databases, and only articles written in English and Portuguese published in journals indexed to the Web of Science were included in this review, as well as current guidelines for pharmacological prescription in pediatric depression. The results made it possible to compile current data on the efficacy and safety of medications used to treat this clinical situation and discuss the current paradigm of mental health in pediatrics.
重度抑郁症是世界上致残率最高的一种临床疾病,它在影响儿童群体时呈现出非常特殊的轮廓。与抑郁症相关的生化和病理生理变化自然会受到社会经济方面和家庭动态的影响,从而导致儿童和青少年所表现的症状具有很大的异质性和差异性。在采取必要措施减轻病毒感染后,COVID-19 大流行加剧了包括儿童在内的普通人群的精神疾病,大大增加了焦虑、抑郁甚至创伤后应激的病例。这篇综述旨在系统梳理抑郁症在生命早期表现出的病理生理学方面及其当前的治疗背景,并对药物遗传学和设计用于儿科人群的多模式药物的方式进行一些阐述。本综述在 PubMed 和 Google Scholar 数据库中进行了搜索,只收录了在 Web of Science 索引期刊上发表的英语和葡萄牙语文章,以及当前儿科抑郁症药物处方指南。研究结果汇编了当前用于治疗这种临床情况的药物的有效性和安全性数据,并讨论了当前儿科心理健康的范例。
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引用次数: 0
DOK7-Associated Congenital Myasthenic Syndrome: A Differential Diagnosis of Core Myopathies? DOK7相关先天性肌无力综合征:核心肌病的鉴别诊断?
Q4 Medicine Pub Date : 2024-01-26 DOI: 10.46531/sinapse/ce/230073/2023
Inês V. Carvalho, André Jorge, Olinda Rebelo, Anabela Matos
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引用次数: 0
Neuro-Behçet’s Disease Mimicking Adult-Type Diffuse Glioma 模拟成人型弥漫性胶质瘤的神经-贝赫切特病
Q4 Medicine Pub Date : 2024-01-26 DOI: 10.46531/sinapse/in/230057/2023
Rita Machado, Ana Margarida Novo, Olinda Rebelo, Sónia Batista
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引用次数: 0
Hypophosphatemia as Potential Biomarker of Tonic-Clonic Seizures in the Emergency Room 低磷血症是急诊室强直-阵挛性癫痫发作的潜在生物标志物
Q4 Medicine Pub Date : 2024-01-26 DOI: 10.46531/sinapse/cc/230034/2023
Renato Oliveira, José Pimentel
Transient alteration of consciousness is common in the emergency department. Tonic-clonic seizures (TCS) are a frequent presumptive diagnosis, but there is no reliable postictal biological marker. We report the case of a 19-year-old man with two episodes of generalized TCS, four months apart. Both were associated with moderate-to-severe hypophosphatemia (0.9 mg/dL, reference range 3.0-4.5 mg/dL). The investigation of phospho-calcium metabolism was negative, and phosphorus levels normalized between the two episodes and after the second TCS. The diagnosis of epilepsy was made based on the occurrence of two unprovoked TCS 24 hours apart. The patient started antiseizure medication after the second TCS and has remained free of seizures (20 months of follow-up). Routine EEG with sleep showed slow temporal activity without epileptiform activity, and the brain magnetic resonance imaging was normal. Changes in serum phosphorus are not usually associated with acute symptomatic seizures. In this case, hypophosphatemia might have been a marker of TC.
短暂的意识改变在急诊科很常见。强直阵挛发作(TCS)是一种常见的推测性诊断,但目前还没有可靠的发作后生物标志物。我们报告了一名 19 岁男子的病例,他两次发作全身强直阵挛,间隔四个月。两次发作均伴有中重度低磷血症(0.9 毫克/分升,参考范围 3.0-4.5 毫克/分升)。磷钙代谢检查呈阴性,在两次发作之间和第二次 TCS 之后,磷水平趋于正常。两次无诱因的 TCS 相隔 24 小时,因此诊断为癫痫。患者在第二次 TCS 后开始服用抗癫痫药物,并一直没有发作(随访 20 个月)。常规睡眠脑电图显示颞叶活动缓慢,无痫样活动,脑磁共振成像正常。血清磷的变化通常与急性症状性癫痫发作无关。在该病例中,低磷血症可能是 TC 的一个标志。
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引用次数: 0
Can a Plegic Leg Move Itself? 截瘫的腿能自己动吗?
Q4 Medicine Pub Date : 2024-01-25 DOI: 10.46531/sinapse/cc/230045/2023
Catarina Borges, André Costa, A. Velon, Michel Mendes
The spinal cord is responsible for several types of involuntary movements, from segmental spinal myoclonus to stepping automated movements generated by spinal central pattern generators (CPG). We present the case of a 47-year-old inpatient woman admitted for suspected spondylodiscitis. Immediate neurologic evaluation was requested in day 2 due to involuntary movements. The neurological examination revealed paraplegia with hyperreflexia, bilateral Babinski’s sign, thermal-algic and tactile sensory level by T5 and proprioceptive compromise of the lower limbs.Involuntary, stimulus-sensitive, wide, rhythmic and stereotyped movements of the left lower limb were observed, involving several muscle groups, similar to stepping movements. Further investigation documented myelopathy secondary to dorsal extradural lesion D2-D3, whose excision led to the complete resolution of these movements. Given the characteristics of these movements, we assume that they are stepping automatism movements generated by CPG.
从节段性脊髓肌阵挛到由脊髓中枢模式发生器(CPG)产生的步态自动运动,脊髓对多种类型的不自主运动负有责任。我们介绍了一例因疑似脊柱盘炎而住院的 47 岁女性患者的病例。由于出现不自主运动,患者在入院第 2 天即要求进行神经系统评估。神经系统检查显示,患者截瘫伴反射亢进、双侧巴宾斯基征、T5热敏和触觉水平以及下肢本体感觉受损。左下肢出现不自主、刺激敏感、宽大、有节奏和刻板的运动,涉及多个肌群,类似于踏步运动。进一步检查发现,脊髓病继发于背侧硬膜外病变 D2-D3,切除后这些运动完全消失。鉴于这些运动的特征,我们认为它们是由 CPG 产生的步态自动运动。
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引用次数: 0
Sinapse: Current Analysis and Future Perspectives Sinapse:当前分析和未来展望
Q4 Medicine Pub Date : 2024-01-22 DOI: 10.46531/sinapse/ed/230087/2023
Helena Donato, F. Palavra, Catarina Resende de Oliveira
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引用次数: 0
Rasmussen’s Syndrome: Case-Series Study from a Refractory Epilepsy Reference Center and Revision of Literature 拉斯穆森综合征:来自难治性癫痫参考资料中心的病例系列研究和文献修订
Q4 Medicine Pub Date : 2024-01-22 DOI: 10.46531/sinapse/ao/230070/2023
M. Serôdio, Marcela Pires, Laura Azurara, Alexandra Santos, Francisca Sá, Rita Silva, Nuno Canas, José Carlos Ferreira, Pedro Cabral
Introduction: Rasmussen’s syndrome (RS) is a rare immunomediated disease of childhood-predominant onset, presenting with refractory epilepsy and neurological deficits associated to progressive brain hemiatrophy. Its pathophysiological mechanisms are not well understood, and the effect of immunotherapy is not ascertained. Hemispheric surgery is an efficacious therapy for epilepsy, despite focal and cognitive sequelae. Curative treatment and ideal timing for surgery are still not defined. Our study aim is to describe a pediatric case-series with RS evaluated in a Reference Center for Refractory Epilepsy and compare our results with the available literature. Methods: Review of clinical, neurophysiological, radiological, therapeutics and prognosis characteristics of pediatric patients evaluated in our center with RS since 2006. Results: Eight children were included (median age of onset 8.0 years), seven with left hemisphere dysfunction. Up until surgery/present moment, four presented epilepsia partialis continua, six had focal deficits and four had cognitive decline. Most patients revealed unilateral atrophy and T2/FLAIR hyperintensity with frontal predominance in the last magnetic resonance imaging (MRI). In the last video-EEG, all patients had ipsilateral interictal epileptiform activity and one had contralateral epileptiform activity as well. PET/SPECT was used in three patients and functional MRI in one patient for language lateralization. Four were submitted to surgery (three hemispherectomies, one frontal resection), having all previously done immunoglobulin, three corticosteroids and two tacrolimus. In the first year post-surgery, two patients were seizure-free, with the others with a significant improvement of their seizures; the patient submitted to frontal resection did not present surgical sequelae, with the remaining having motor and cognitive sequelae (albeit one with language improvement). Among patients not submitted to surgery, all maintain refractory epilepsy with at least four antiseizure drugs, with immunoglobulin been used in three patients, corticosteroids in two and tacrolimus in one. Conclusion: The management of RS is challenging regarding the balance between seizure control and the neurological surgical deficits. Our sample reflects the literature data, according to which hemispherectomy is the most effective therapy for seizure control, despite causing significant morbidity, rising questions about its timing.
简介拉斯穆森综合征(Rasmussen's Syndrome,RS)是一种罕见的免疫介导疾病,主要在儿童时期发病,表现为难治性癫痫和进行性脑半影相关的神经功能缺损。该病的病理生理机制尚不清楚,免疫疗法的效果也未确定。尽管存在病灶和认知后遗症,半球手术仍是治疗癫痫的有效方法。治愈性治疗和理想的手术时机仍未确定。我们的研究目的是描述在难治性癫痫参考资料中心评估的一个小儿 RS 病例系列,并将我们的结果与现有文献进行比较。 研究方法回顾自 2006 年以来在本中心接受评估的 RS 儿童患者的临床、神经电生理、放射学、治疗和预后特征。 结果共纳入八名儿童(发病年龄中位数为 8.0 岁),其中七名患有左半球功能障碍。截至手术前/目前,四名患儿出现癫痫部分性持续状态,六名患儿出现局灶性障碍,四名患儿出现认知能力下降。大多数患者在最后一次磁共振成像(MRI)中显示出单侧萎缩和额叶为主的T2/FLAIR高密度。在最后一次视频脑电图检查中,所有患者都有同侧发作间期癫痫样活动,其中一名患者还有对侧癫痫样活动。PET/SPECT 用于三名患者,功能磁共振成像用于一名患者的语言侧位。四名患者接受了手术治疗(三例半球切除术,一例额叶切除术),之前都注射过免疫球蛋白,三例皮质类固醇,两例他克莫司。手术后第一年,两名患者癫痫不再发作,其他患者的癫痫发作也有明显改善;接受额叶切除术的患者没有出现手术后遗症,其余患者有运动和认知后遗症(尽管其中一人的语言能力有所改善)。在未接受手术的患者中,所有患者都使用了至少四种抗癫痫药物来维持难治性癫痫,其中三名患者使用了免疫球蛋白,两名患者使用了皮质类固醇,一名患者使用了他克莫司。 结论RS的治疗在控制癫痫发作和神经系统手术缺陷之间的平衡具有挑战性。我们的样本反映了文献数据,根据这些数据,半球切除术是控制癫痫发作最有效的治疗方法,尽管会导致显著的发病率,但也引起了关于手术时机的问题。
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引用次数: 0
The Incidence of Guillain-Barré Syndrome during COVID-19 Pandemic: A Portuguese Multicentric Retrospective Study COVID-19 大流行期间格林-巴利综合征的发病率:葡萄牙多中心回顾性研究
Q4 Medicine Pub Date : 2024-01-22 DOI: 10.46531/sinapse/ao/230055/2023
Joana Vítor, Joana Moniz Dionísio, Catarina Campos, M. Oliveira Santos, Simão Cruz, Juliana Castelo, José Castro, Isabel Castro, Mariana Santos, José Vale, Mamede de Carvalho, Isabel Conceição
Introduction: Guillain-Barré syndrome (GBS) is a rare peripheral nervous system inflammatory disease with an annual estimated incidence of 1-2/100 000. Several studies relate GBS with vaccination, especially against influenza. The literature is discordant on GBS incidence during the pandemic. Additionally, while vaccination is globally ongoing, GBS cases have been associated with an inoculation against SARS-CoV-2. Objective: To evaluate COVID-19 vaccination-associated Guillain-Barré syndrome cases and to establish their real incidence. Methods: Multicenter retrospective study with analysis of the GBS incidence and clinical characteristics in the pre-pandemic period (PPP), the pandemic pre-vaccination period (PPVP), and the pandemic vaccination period (PVP). Results: Forty-seven cases of GBS were identified: 13 in the PPP, 11 in the PPVP and 23 in the PVP. An increase in GBS cases (77%) was observed during the PVP when compared to the PPP, but it was not statistically significant (p = 0.10). Although an increase of the non-AIDP phenotype after vaccination period was observed (34.7%), a statistically significant relationship was not found. Conclusion: This study is the first Portuguese multicentric study regarding the incidence of GBS and SARS-CoV-2 infection and vaccination. We hypothesize that the slight decrease in GBS during the pandemic pre-vaccination period is probably due to hygienic measures implemented during the COVID-19 pandemic. Moreover, we found a small increase in the number of GBS cases with a possible relationship with COVID-19 vaccination. Prospective studies are necessary to better characterize this relationship and take further conclusions.
导言吉兰-巴雷综合征(Guillain-Barré syndrome,GBS)是一种罕见的周围神经系统炎症性疾病,每年的发病率约为 1-2/10 万。一些研究表明,吉兰-巴雷综合征与接种疫苗有关,尤其是流感疫苗。有关流感大流行期间 GBS 发病率的文献资料并不一致。此外,虽然全球都在进行疫苗接种,但 GBS 病例与接种 SARS-CoV-2 疫苗有关。 目的评估与 COVID-19 疫苗接种相关的吉兰-巴雷综合征病例,并确定其实际发病率。 方法: 多中心回顾性研究多中心回顾性研究,分析大流行前(PPP)、大流行疫苗接种前(PPVP)和大流行疫苗接种期(PVP)的吉兰巴利综合征发病率和临床特征。 结果:共发现 47 例 GBS 病例:其中 13 例发生在大流行前接种期,11 例发生在大流行后接种期,23 例发生在大流行后接种期。与 PPP 相比,在 PVP 期间观察到的 GBS 病例有所增加(77%),但没有统计学意义(p = 0.10)。虽然在接种疫苗后观察到非 AIDP 表型增加(34.7%),但没有发现统计学上的显著关系。 结论本研究是葡萄牙第一项关于 GBS 和 SARS-CoV-2 感染率与疫苗接种的多中心研究。我们假设,在疫苗接种前的大流行期间,GBS 的发病率略有下降,这可能是由于 COVID-19 大流行期间实施的卫生措施所致。此外,我们还发现 GBS 病例的少量增加可能与接种 COVID-19 疫苗有关。有必要进行前瞻性研究,以更好地描述这种关系并得出进一步的结论。
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引用次数: 0
King-Denborough Syndrome: Report of a Family 金-登伯勒综合症:一个家庭的报告
Q4 Medicine Pub Date : 2023-10-18 DOI: 10.46531/sinapse/cc/230040/2023
João Vasco
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引用次数: 0
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