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Single nucleotide variants in the SCN1A gene and their relation to the development of type 3 familial hemiplegic migraine
Get PDFIntroductionMigraine is a complex brain disorder that is influenced by different pathophysiological aspects such as inflammation, structural changes, and dysfunctions in multisensory processing. Recent studies have showed that possible mutations in genes that interfere with the excitability of ion channels linked to nociception are one of the key mechanisms for the development of a migraine. In this sense, it is known that familial hemiplegic migraine type 3 (FHM3) undergoes specific missense mutational influences on the SCN1A gene that encodes the α1 subunit of NAV1.1, a voltage-gated sodium channel present in the brain that demonstrates that the deregulation of the excitatory- inhibitory balance of these channels in specific circuits may come to characterize the pathogenic mechanism of FHM3.
ObjectivesInvestigate the relation of single nucleotide variants (SNVs) on the SCN1A gene encoder of the a1 subunit of the NAV1.1 channel with the development of FHM3.
MethodsNarrative review performed by active search in the digital databases Virtual Health Library (BVS), PubMed, SciElo and Google Scholar.
DevelopmentMigraine pathophysiology involves the distribution of ions between intracellular and extracellular compartments, which shows the role of the ion channels in the disease. In this regard, there is an activation of the trigeminal vascular meningeal system by the NaV1.1 channels, which are expressed in Aδ fibers. Therefore, it is believed that mutations on genes that encodes the ion channels act in the development of migraine, mainly by the meninges, as they are densely innervated by trigeminal nerve endings. (To see the complete abstract, please, check out the PDF).
International Classification of Orofacial Pain – ICOP – Brazilian Portuguese version
Get PDFThere is no abstract since it is an Editorial.
Encephalitis associated with Covid-19 and thunderclap headache: an unusual relationship
Get PDFThe Covid-19 is characterized by respiratory symptoms, however this virus frequently damages the nervous system, although the exact mechanism involved is still unclear. Headache is the most common neurological symptom and has a great heterogeneity, including thunderclap headache which should be considered a red flag on emergency departments. Case report: female, 51 years-old, with thunderclap headache started seven days ago that evolved to mental confusion, inattention and language plus memory disturbance at the day of admission. General physical examination was normal except by the presence of borderline pyrexia (37.7°C). Neurological examination showed no particularities, except for mental and cognitive alterations. Computed angiotomography of the brain excluded bleeding but showed one aneurysm. Cerebrospinal fluid (CSF) had no xanthochromia, but evidenced a lymphomonocytic pleocytosis with discrete hyperproteinorraquia. Due to hospital protocol the patient underwent computed tomography of thorax and we found ground-glass opacities suggesting viral infection. Then, RT-PCR for SARS-CoV-2 with nasopharyngeal swab and in CSF was performed with both positives. Therefore the diagnosis was encephalitis associated with COVID-19. We opted for supportive care only. Patient evolved with many complications, need of ventilatory support and renal replacement therapy, but she was discharged after 35 days with no symptoms and at follow-up, two months later, the only finding was mild inattention. Discussion: when faced with a case with thunderclap headache, especially with other neurological findings, the first step is excluded subarachnoid hemorrhage, but health professionals should keep in mind the differential diagnoses, mainly infectious and highly contagious diseases such as COVID-19.
Chronic subdural hematoma that developed after a diagnostic lumbar puncture: headache worsens with bilateral compression of jugular veins (Queckenstedt’s maneuver)
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O LÍQUOR (LCR) E A HIPERTENSÃO INTRACRANIANA IDIOPÁTICA (HII): REVISÃO CRÍTICA
No full textPseudotumor cerebri is a syndrome that results from increased intracranial pressure. The main symptoms are headache, vision disturbances, and pulsatile tinnitus. Definitive diagnosis requires the presence of clinical and/or radiological signs of intracranial hypertension, high opening pressure on lumbar puncture (LP), and normal CSF constitution. Several studies have evaluated new contributions of CSF in the clinical evaluation and the in understanding of the pathophysiology of pseudotumor cerebri. Such studies have included the analysis of inflammatory biomarkers, adipokines, proteomic analysis, and CSF flow studies. In this review, we present the main results obtained so far and critically discuss the present status and the potential role of research involving the CSF in this condition. Based on current knowledge, it is possible to conclude that CSF research with new biomarkers has not yet provided information that can be employed in clinical practice at this moment. However, a better understanding of the constitution and dynamics of CSF circulation in patients with pseudotumor cerebri has brought some information about this condition and can potentially improve our knowledge about this condition in the future.Pseudotumor cerebral é uma síndrome que resulta do aumento da pressão intracraniana e que causa cefaleia, distúrbios visuais e tinnitus pulsátil. O diagnóstico definitivo requer a presença de sinais clínicos e/ou radiológicos de hipertensão intracraniana, pressão de abertura elevada na punção lombar (PL) e constituição normal do líquor (LCR). Diversos estudos têm avaliado novas contribuições do LCR no diagnóstico e no entendimento acerca da fisiopatologia do pseudotumor cerebral. Tais estudos têm incluído a análise de biomarcadores inflamatórios, adipocinas, análise proteômica e estudos de fluxo liquórico. Nesta revisão apresentamos os principais resultados até aqui obtidos e discutimos criticamente as contribuições das pesquisas envolvendo o LCR no entendimento desta condição. Com base nos conhecimentos até aqui obtidos é possível concluir que que a pesquisa com novos biomarcadores liquóricos ainda não possibilitou a incorporação de informações com impactos na prática clínica. Contudo, um melhor entendimento da constituição e da dinâmica da circulação liquórica em pacientes com pseudotumor cerebral vem trazendo algumas informações sobre a fisiopatologia do pseudotumor cerebral e pode vir a aprimorar o conhecimento acerca dessa condição
Varfarina no tratamento de cefaleias em salvas crônica refratária: um relato de caso e revisão das opções terapêuticas
No full textCluster headache is the most common of trigeminal autonomic cephalalgia, with variable prevalence. It can be episodic or chronic, with few remission and high therapeutic failure. The case refers to a 55-year-old female patient, hypertensive and diabetic, with a history of migraine without aura with pain management. In 2014, the patient began to present a new headache pattern, with a diagnosis of Chronic Cluster Headache. Pain management to nasal sumatriptan as an acute treatment. For the prophylactic treatment, she presented therapeutic failure to several medications, with pain management with the use of warfarin. Associated with valproic acid to control migraine. There are few cases described in the literature about the use of warfarin, and its mechanism is still unclear. Warfarin was a key drug, with more than a 50% reduction in attack control. There is a need for more clinical trials randomly that support it. Cluster headache has peculiar clinical diagnosis, being increasingly well recognized and diagnosed. Knowledge and institution of treatment can significantly improve the quality of life of patients, helping to recover the functionality of patients affected by treatment failure.A cefaleia em salvas é a mais comum das trigeminoautonômicas, de prevalência variável. Pode ser episódica ou crônica, com pouca remissão e alta refratariedade terapêutica. O caso refere-se a uma paciente de 55 anos do sexo feminino, hipertensa e diabética, com história de migrânea sem aura com bom controle álgico. Em 2014 começou a apresentar novo padrão de cefaleia, com diagnóstico de Cefaleia em Salvas Crônica. Boa resposta a sumatriptano nasal como tratamento agudo. Para o tratamento profilático, apresentou falha terapêutica a diversas medicações, com bom controle ao uso de varfarina. Associado ácido valproico para controle de migrânea. Há poucos casos descritos na literatura sobre uso de varfarina, sendo que seu mecanismo ainda é pouco claro. A varfarina foi uma droga chave, com redução de mais de 50% no controle dos ataques. Há a necessidade de mais ensaios clínicos randomizados que sustentem a sua recomendação. A cefaleia em Salvas possui diagnóstico clínico peculiar, sendo cada vez mais bem reconhecida e diagnosticada. O conhecimento e instituição do tratamento precoce pode melhorar significativamente a qualidade de vida dos pacientes, auxiliando na recuperação da funcionalidade de pacientes acometidos pela refratariedade do tratamento
Applicability of DSM-V substance use disorder (SUD) criteria in medication overuse headache (MOH)
Get PDFMedication overuse headache (MOH) is a chronic secondary headache disorder attributed to the frequent or regular use of analgesics or acute antimigraine drugs in patients with a primary headache disorder. In addition, it has been linked to substance use disorder (SUD) also known as drug addiction, a persistent use of drugs or substances, despite substantial damage and adverse consequences, diagnosed by DSM-V criteria. At this time, apart from opioids, acute headache medications are not included in SUD. Despite the idea that the compulsive search for reward in MOH is similar to that observed in substance dependence, the DSM-V SUD criteria have never been carefully applied to MOH. We propose to discuss each DSM-V criterion of SUD diagnosis to see whether it is appropriate to use in MOH. We considered it was not-applicable when dealing with a situation that could be explained both by addictive behavior and by poorly controlled primary headache. We conclude that the SUD criteria should not be applied to patients who meet the criteria for MOH.
 
The Brazilian Headache Society: From broad social benefit to scientific-academic advancements
Get PDFEditoria
The importance of considering psychosocial aspects in migraine patients
Get PDFLetter about the importance of considering psychosocial aspects in migraine patient
Painful unilateral facial swelling due to superficial temporal artery thrombosis: a rare presentation of Antiphospholipid Syndrome
Get PDFIntroduction
Persistent painful unilateral temporal swelling is rarely seen in clinical practice. Antiphospholipid syndrome (APS) is an autoimmune and systemic disorder that causes changes in blood clotting homeostasis, marked by arterial or venous thrombosis, gestational morbidity, and high and persistently positive serum levels of antiphospholipid antibodies (aPL). APS is more common in young women and middle-aged adults, with no preference for race. Among its clinical features, temporal artery thrombosis, associated with headache and temporal and hemifacial edema is extremely rare, with few publications worldwide on this topic.
Objective
This report aims to present the case of a unilateral painful facial edema due to thrombosis of the superficial temporal artery as an unprecedented manifestation of Antiphospholipid Syndrome. Thus, the only record in the English-language literature surveyed in the Pubmed database in July 2022 highlights the rarity of this APS presentation and the consequent challenge in suspecting the correct diagnosis for adequate treatment.
Methods
Case report. Data disclosure was authorized by the patient through an informed consent form.
Results
A 32-year-old woman was presented with pain in the right temporal region of her face. The pain was intense, daily and continuous, pulsating, without irradiation, which worsened with physical activity and presented partial relief with common analgesics. After 20 days, she developed a right pale temporal edema (Figure 1) associated with a significant worsening of pain and intense right unilateral headache attacks triggered by chewing and speaking. She has a history of deep vein thrombosis in the left lower limb. Physical examination and imaging tests showed significant cold edema of the right temporal region with asymmetry of the temporal muscles, which was extremely painful on palpation and made it difficult to open the mouth. There were no other changes in the general physical...
(Too see the complete abstract, please, check out the PDF.