Sinapse最新文献

{"title":"COVID-19 Associated Longitudinal Extensive Transverse Myelitis with Cerebral Spinal Fluid SARS-CoV-2 Detection","authors":"Fábio Gomes, Cláudia Lima, Cristina Valente, João Vaz, Lurdes Correia, Inês Correia","doi":"10.46531/sinapse/cc/230058/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230058/2023","url":null,"abstract":"\u0000There 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.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140492325","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Depression in the Paediatric Population: Current Therapeutic Context and Challenges to Innovation","authors":"Ana Rita Rodrigues, F. Palavra, Victoria Bell, Filipa Mascarenhas-Melo, Luis Almeida, Francisco Veiga","doi":"10.46531/sinapse/ar/230029/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ar/230029/2023","url":null,"abstract":"\u0000Major 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.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-27","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140492865","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"DOK7-Associated Congenital Myasthenic Syndrome: A Differential Diagnosis of Core Myopathies?","authors":"Inês V. Carvalho, André Jorge, Olinda Rebelo, Anabela Matos","doi":"10.46531/sinapse/ce/230073/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ce/230073/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140493374","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Neuro-Behçet’s Disease Mimicking Adult-Type Diffuse Glioma","authors":"Rita Machado, Ana Margarida Novo, Olinda Rebelo, Sónia Batista","doi":"10.46531/sinapse/in/230057/2023","DOIUrl":"https://doi.org/10.46531/sinapse/in/230057/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140493612","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Hypophosphatemia as Potential Biomarker of Tonic-Clonic Seizures in the Emergency Room","authors":"Renato Oliveira, José Pimentel","doi":"10.46531/sinapse/cc/230034/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230034/2023","url":null,"abstract":"\u0000Transient 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. \u0000The 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. \u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140494052","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Can a Plegic Leg Move Itself?","authors":"Catarina Borges, André Costa, A. Velon, Michel Mendes","doi":"10.46531/sinapse/cc/230045/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230045/2023","url":null,"abstract":"\u0000The 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.\u0000Involuntary, 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.\u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140495549","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Sinapse: Current Analysis and Future Perspectives","authors":"Helena Donato, F. Palavra, Catarina Resende de Oliveira","doi":"10.46531/sinapse/ed/230087/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ed/230087/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140500470","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"Rasmussen’s Syndrome: Case-Series Study from a Refractory Epilepsy Reference Center and Revision of Literature","authors":"M. Serôdio, Marcela Pires, Laura Azurara, Alexandra Santos, Francisca Sá, Rita Silva, Nuno Canas, José Carlos Ferreira, Pedro Cabral","doi":"10.46531/sinapse/ao/230070/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ao/230070/2023","url":null,"abstract":"\u0000Introduction: 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. \u0000 \u0000Methods: Review of clinical, neurophysiological, radiological, therapeutics and prognosis characteristics of pediatric patients evaluated in our center with RS since 2006. \u0000 \u0000Results: 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. \u0000 \u0000Conclusion: 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. \u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140499569","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"The Incidence of Guillain-Barré Syndrome during COVID-19 Pandemic: A Portuguese Multicentric Retrospective Study","authors":"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","doi":"10.46531/sinapse/ao/230055/2023","DOIUrl":"https://doi.org/10.46531/sinapse/ao/230055/2023","url":null,"abstract":"\u0000Introduction: 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. \u0000 \u0000Objective: To evaluate COVID-19 vaccination-associated Guillain-Barré syndrome cases and to establish their real incidence. \u0000 \u0000Methods: 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). \u0000 \u0000Results: 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%), \u0000a statistically significant relationship was not found. \u0000 \u0000Conclusion: 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. \u0000","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2024-01-22","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140500328","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}

{"title":"King-Denborough Syndrome: Report of a Family","authors":"João Vasco","doi":"10.46531/sinapse/cc/230040/2023","DOIUrl":"https://doi.org/10.46531/sinapse/cc/230040/2023","url":null,"abstract":"","PeriodicalId":53695,"journal":{"name":"Sinapse","volume":null,"pages":null},"PeriodicalIF":0.0,"publicationDate":"2023-10-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"135944920","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}