TCD assessment in fulminant hepatic failure: Improvements in cerebral autoregulation after liver transplantation.

INTRODUCTION AND OBJECTIVES: Acute liver failure, also known as fulminant hepatic failure (FHF), includes a spectrum of clinical entities characterized by acute liver injury, severe hepatocellular dysfunction and hepatic encephalopathy. The objective of this study was to assess cerebral autoregulation (CA) in 25 patients (19 female) with FHF and to follow up with seventeen of these patients before and after liver transplantation. PATIENTS AND METHODS: The mean age was 33.8 years (range 14-56, SD 13.1 years). Cerebral hemodynamics was assessed by transcranial Doppler (TCD) bilateral recordings of cerebral blood velocity (CBv) in the middle cerebral arteries (MCA). RESULTS: CA was assessed based on the static CA index (SCAI), reflecting the effects of a 20-30 mmHg increase in mean arterial blood pressure on CBv induced with norepinephrine infusion. SCAI was estimated at four time points: pretransplant and on the 1st, 2nd and 3rd posttransplant days, showing a significant difference between pre- and posttransplant SCAI (p = 0.005). SCAI peaked on the third posttransplant day (p = 0.006). Categorical analysis of SCAI showed that for most patients, CA was reestablished on the second day posttransplant (SCAI > 0.6). CONCLUSIONS: These results suggest that CA impairment pretransplant and on the 1st day posttransplant was re-established at 48-72 h after transplantation. These findings can help to improve the management of this patient group during these specific phases, thereby avoiding neurological complications, such as brain swelling and intracranial hypertension.

Intracranial hemorrhages in patients with COVID-19: a systematic review of the literature, regarding six cases in an Amazonian population.

BACKGROUND: Coronavirus disease 2019 (COVID-19) has emerged as a public health emergency worldwide, predominantly affecting the respiratory tract. However, evidence supports the involvement of extrapulmonary sites, including reports of intracranial hemorrhages. OBJECTIVE: To describe six original cases and review the literature on intracranial hemorrhages in patients diagnosed with COVID-19 by molecular methods. METHODS: A systematic literature review was performed on MEDLINE, PubMed, and NCBI electronic databases to identify eligible studies. Of the total 1,624 articles retrieved, only 53 articles met the inclusion criteria. RESULTS: The overall incidence of intracranial hemorrhage in patients hospitalized for COVID-19 was 0.26%. In this patient group, the mean age was 60 years, and the majority were male (68%) with initial respiratory symptoms (73%) and some comorbidity. Before the diagnosis of hemorrhage, 43% of patients were using anticoagulants, 47.3% at therapeutic doses. The intraparenchymal (50%) was the most affected compartment, followed by the subarachnoid (34%), intraventricular (11%), and subdural (7%). There was a predominance of lobar over non-lobar topographies. Multifocal or multicompartmental hemorrhages were described in 25% of cases. Overall mortality in the cohort studies was 44%, while around 55% of patients were discharged from hospital. CONCLUSION: Despite the unusual association, the combination of these two diseases is associated with high rates of mortality and morbidity, as well as more severe clinicoradiological presentations. Further studies are needed to provide robust evidence on the exact pathophysiology behind the occurrence of intracranial hemorrhages after COVID-19 infection.

ANTECEDENTES: A COVID-19 emergiu como uma emergência de saúde pública em todo o mundo, proporcionando lesão principalmente do trato respiratório. No entanto, várias evidências apontam para acometimento de sítios extrapulmonares, incluindo relatos de hemorragias intracranianas. OBJETIVO: Descrever seis casos originais e revisar a literatura sobre hemorragias intracranianas em pacientes com diagnostico de COVID-19 por métodos moleculares. MéTODOS: A revisão sistemática da literatura foi feita nas bases de dados eletrônicas da MEDLINE, PubMed e NCBI para identificar os estudos elegíveis. Do total de 1.624 artigos recuperados, apenas 53 artigos preencheram os critérios de inclusão. RESULTADOS: A incidência geral de hemorragia intracraniana nos pacientes internados por COVID-19 foi de 0,26%. A média de idade foi de 60 anos, e a maioria dos pacientes era do sexo masculino (68%) com sintomas respiratórios iniciais (73%) e alguma comorbidade. Antes do diagnóstico de hemorragia, 43% estavam em uso de anticoagulantes, 47,3% destes em doses terapêuticas. O compartimento mais acometido foi o intraparenquimatoso (50%), seguido do subaracnoideo (34%), intraventricular (11%) e subdural (7%). Houve predomínio de topografias lobares sobre as não-lobares. Hemorragias multifocais ou multicompartimentais foram descritas em 25% dos casos. A mortalidade geral nos estudos de coorte foi de 44%, enquanto houve alta hospitalar em cerca de 55% dos pacientes. CONCLUSãO: Apesar da associação incomum, a combinação dessas doenças está relacionada com altas taxas de mortalidade e morbidade, bem como apresentações clínico-radiológicas mais graves. Mais estudos são necessários para oferecer evidências robustas sobre a fisiopatologia exata por trás da ocorrência de hemorragias intracranianas após infecção por COVID-19.

Intracranial hemorrhages in patients with COVID-19: a systematic review of the literature, regarding six cases in an Amazonian population / Hemorragias intracranianas em pacientes com COVID-19: uma revisão sistemática da literatura, a propósito de seis casos na população amazônica

Abstract Background Coronavirus disease 2019 (COVID-19) has emerged as a public health emergency worldwide, predominantly affecting the respiratory tract. However, evidence supports the involvement of extrapulmonary sites, including reports of intracranial hemorrhages. Objective To describe six original cases and review the literature on intracranial hemorrhages in patients diagnosed with COVID-19 by molecular methods. Methods A systematic literature review was performed on MEDLINE, PubMed, and NCBI electronic databases to identify eligible studies. Of the total 1,624 articles retrieved, only 53 articles met the inclusion criteria. Results The overall incidence of intracranial hemorrhage in patients hospitalized for COVID-19 was 0.26%. In this patient group, the mean age was 60 years, and the majority were male (68%) with initial respiratory symptoms (73%) and some comorbidity. Before the diagnosis of hemorrhage, 43% of patients were using anticoagulants, 47.3% at therapeutic doses. The intraparenchymal (50%) was the most affected compartment, followed by the subarachnoid (34%), intraventricular (11%), and subdural (7%). There was a predominance of lobar over non-lobar topographies. Multifocal or multicompartmental hemorrhages were described in 25% of cases. Overall mortality in the cohort studies was 44%, while around 55% of patients were discharged from hospital. Conclusion Despite the unusual association, the combination of these two diseases is associated with high rates of mortality and morbidity, as well as more severe clinicoradiological presentations. Further studies are needed to provide robust evidence on the exact pathophysiology behind the occurrence of intracranial hemorrhages after COVID-19 infection.

Resumo Antecedentes A COVID-19 emergiu como uma emergência de saúde pública em todo o mundo, proporcionando lesão principalmente do trato respiratório. No entanto, várias evidências apontam para acometimento de sítios extrapulmonares, incluindo relatos de hemorragias intracranianas. Objetivo Descrever seis casos originais e revisar a literatura sobre hemorragias intracranianas em pacientes com diagnostico de COVID-19 por métodos moleculares. Métodos A revisão sistemática da literatura foi feita nas bases de dados eletrônicas da MEDLINE, PubMed e NCBI para identificar os estudos elegíveis. Do total de 1.624 artigos recuperados, apenas 53 artigos preencheram os critérios de inclusão. Resultados A incidência geral de hemorragia intracraniana nos pacientes internados por COVID-19 foi de 0,26%. A média de idade foi de 60 anos, e a maioria dos pacientes era do sexo masculino (68%) com sintomas respiratórios iniciais (73%) e alguma comorbidade. Antes do diagnóstico de hemorragia, 43% estavam em uso de anticoagulantes, 47,3% destes em doses terapêuticas. O compartimento mais acometido foi o intraparenquimatoso (50%), seguido do subaracnoideo (34%), intraventricular (11%) e subdural (7%). Houve predomínio de topografias lobares sobre as não-lobares. Hemorragias multifocais ou multicompartimentais foram descritas em 25% dos casos. A mortalidade geral nos estudos de coorte foi de 44%, enquanto houve alta hospitalar em cerca de 55% dos pacientes. Conclusão Apesar da associação incomum, a combinação dessas doenças está relacionada com altas taxas de mortalidade e morbidade, bem como apresentações clínico-radiológicas mais graves. Mais estudos são necessários para oferecer evidências robustas sobre a fisiopatologia exata por trás da ocorrência de hemorragias intracranianas após infecção por COVID-19.

Access to rehabilitation after stroke in Brazil (AReA study): multicenter study protocol.

BACKGROUND: Most of the Brazilian population relies on public healthcare and stroke is a major cause of disability in this country of continental dimensions. There is limited information about access to rehabilitation after stroke in Brazil. OBJECTIVE: To provide comprehensive information about Access to Rehabilitation After discharge from public hospitals in Brazil (AReA study), up to 6 months after stroke. METHODS: The present study intends to collect information from 17 public health centers in 16 Brazilian cities in the 5 macroregions of the country. Each center will include 36 participants (n = 612). The inclusion criteria are: age ≥ 18 years old; ischemic or hemorrhagic stroke, from 6 months to 1 year prior to the interview; admission to a public hospital in the acute phase after stroke; any neurological impairment poststroke; patient or caregiver able to provide informed consent and answer the survey. Patients can only be recruited in public neurology or internal medicine outpatient clinics. Outcomes will be assessed by a standard questionnaire about rehabilitation referrals, the rehabilitation program (current status, duration in months, number of sessions per week) and instructions received. In addition, patients will be asked about preferences for locations of rehabilitation (hospitals, clinics, or at home). TRIAL STATUS: The study is ongoing. Recruitment started on January 31st, 2020 and is planned to continue until June 2022. CONCLUSION: The AReA study will fill a gap in knowledge about access to stroke rehabilitation in the public health system in different Brazilian regions.

ANTECEDENTES: Grande parte da população brasileira depende de saúde pública e o acidente vascular cerebral (AVC) é uma das principais causas de incapacidade neste país de dimensões continentais. As informações sobre o acesso à reabilitação após AVC em instalações públicas no Brasil são limitadas. OBJETIVO: Fornecer informações abrangentes sobre o Acesso à Reabilitação pós-AVC (estudo AReA) nos primeiros 6 meses após a alta hospitalar da rede pública. MéTODOS: Serão coletadas informações de 17 centros de saúde públicos em 16 cidades brasileiras das cinco macrorregiões do país. Cada centro incluirá 36 participantes (n = 612). Os critérios de inclusão são: idade ≥ 18 anos; AVC isquêmico ou hemorrágico, com tempo de lesão entre 6 meses e 1 ano; admissão em hospital público na fase aguda; qualquer comprometimento neurológico pós-AVC; paciente ou cuidador capaz de fornecer consentimento informado e responder à pesquisa. Os pacientes só podem ser recrutados em ambulatórios públicos de neurologia ou medicina interna. Os resultados serão avaliados por um questionário padrão sobre encaminhamentos de reabilitação, o programa de reabilitação (estado atual, duração em meses, número de sessões por semana) e instruções recebidas. Além disso, os pacientes serão questionados sobre as preferências de locais de reabilitação (hospitais, clínicas ou casa). STATUS DO ESTUDO: O estudo está em andamento. O recrutamento começou em 31 de janeiro de 2020 e está previsto para continuar até junho de 2022. CONCLUSãO: O estudo AReA preencherá uma lacuna no conhecimento sobre o acesso à reabilitação para AVC no sistema público de saúde em diferentes regiões brasileiras.

Access to rehabilitation after stroke in Brazil (AReA study): multicenter study protocol / Acesso à reabilitação após o AVC no Brasil (estudo AReA): protocolo de estudo multicêntrico

Abstract Background Most of the Brazilian population relies on public healthcare and stroke is a major cause of disability in this country of continental dimensions. There is limited information about access to rehabilitation after stroke in Brazil. Objective To provide comprehensive information about Access to Rehabilitation After discharge from public hospitals in Brazil (AReA study), up to 6 months after stroke. Methods The present study intends to collect information from 17 public health centers in 16 Brazilian cities in the 5 macroregions of the country. Each center will include 36 participants (n = 612). The inclusion criteria are: age ≥ 18 years old; ischemic or hemorrhagic stroke, from 6 months to 1 year prior to the interview; admission to a public hospital in the acute phase after stroke; any neurological impairment poststroke; patient or caregiver able to provide informed consent and answer the survey. Patients can only be recruited in public neurology or internal medicine outpatient clinics. Outcomes will be assessed by a standard questionnaire about rehabilitation referrals, the rehabilitation program (current status, duration in months, number of sessions per week) and instructions received. In addition, patients will be asked about preferences for locations of rehabilitation (hospitals, clinics, or at home). Trial Status The study is ongoing. Recruitment started on January 31st, 2020 and is planned to continue until June 2022. Conclusion The AReA study will fill a gap in knowledge about access to stroke rehabilitation in the public health system in different Brazilian regions.

Resumo Antecedentes Grande parte da população brasileira depende de saúde pública e o acidente vascular cerebral (AVC) é uma das principais causas de incapacidade neste país de dimensões continentais. As informações sobre o acesso à reabilitação após AVC em instalações públicas no Brasil são limitadas. Objetivo Fornecer informações abrangentes sobre o Acesso à Reabilitação pós-AVC (estudo AReA) nos primeiros 6 meses após a alta hospitalar da rede pública. Métodos Serão coletadas informações de 17 centros de saúde públicos em 16 cidades brasileiras das cinco macrorregiões do país. Cada centro incluirá 36 participantes (n = 612). Os critérios de inclusão são: idade ≥ 18 anos; AVC isquêmico ou hemorrágico, com tempo de lesão entre 6 meses e 1 ano; admissão em hospital público na fase aguda; qualquer comprometimento neurológico pós-AVC; paciente ou cuidador capaz de fornecer consentimento informado e responder à pesquisa. Os pacientes só podem ser recrutados em ambulatórios públicos de neurologia ou medicina interna. Os resultados serão avaliados por um questionário padrão sobre encaminhamentos de reabilitação, o programa de reabilitação (estado atual, duração em meses, número de sessões por semana) e instruções recebidas. Além disso, os pacientes serão questionados sobre as preferências de locais de reabilitação (hospitais, clínicas ou casa). Status do estudo O estudo está em andamento. O recrutamento começou em 31 de janeiro de 2020 e está previsto para continuar até junho de 2022. Conclusão O estudo AReA preencherá uma lacuna no conhecimento sobre o acesso à reabilitação para AVC no sistema público de saúde em diferentes regiões brasileiras.

Cerebral Vasculopathy in Children With Sickle Cell Disease in an Amazonian Population.

Introduction: Sickle cell disease is the most prevalent hereditary disease in the country. The aim of this study was to use transcranial Doppler as a screening method for identifying cerebral vasculopathy in children with sickle cell disease. Methods: An epidemiologic, descriptive, and cross-sectional study was conducted. Patients aged 2-16 years with sickle cell disease and followed at a neurology referral service between January 2014 and March 2020 underwent transcranial Doppler and complementary examinations to screen for cerebral vasculopathy. Results: Screening and confirmatory examinations diagnosed 14 of 164 patients (8.5%) with cerebral vasculopathy. Regarding stroke risk, as measured by cerebral blood flow velocity, 2 of 14 patients (14.2%) were classified as conditional risk (170-199 cm/s) and 12 of 14 (85.7%) as high risk of stroke. Conclusion: Complementary examinations should be performed in all patients with changes on transcranial Doppler to confirm cerebral vasculopathy. Further studies, particularly genetic, are needed to better understand the relationship between sickle cell disease and cerebral vasculopathy.

Dual origin of vertebral artery and intimal relationship with spontaneous artery dissection: a case report and systematic review.

Dual origin of the vertebral artery (VA) is an uncommon anatomical variation. We describe a case of duplication origin at right vertebral artery (RVA) found incidentally in one elderly patient on investigation for cerebral aneurysm. Angiogram study showed a pseudoaneurysm at V4 segment of the RVA associated with embryological anatomy. The authors performed a systematic review of the similar cases reported worldwide.

Brainstem abscess treated conservatively.

BACKGROUND: Brainstem abscess is a rare condition with a variety of treatment approaches. In this paper, we report an unusual case of a brainstem abscess with a positive outcome in an immunocompetent patient who was treated with antibiotic therapy. CASE DESCRIPTION: A 22-year-old female presented with bilateral tetraparesis that was worse on the left hemibody, appendicular tremor, and left upper eyelid ptosis. Brain magnetic resonance imaging showed an abscess in the pons and midbrain due to possible nocardiosis. She was treated with dexamethasone, phenytoin, vancomycin, and meropenem for 8 weeks and trimethoprim-sulfamethoxazole for 6 weeks. The brain injury decreased, and the patient's neurological status significantly improved. CONCLUSION: Brainstem abscess may be treated conservatively, leading to improvement of the clinical condition and decreased lesion size on imaging.

The current clinical picture of cerebral proliferative angiopathy: systematic review.

BACKGROUND: Cerebral proliferative angiopathy (CPA) is a rare subset of arteriovenous malformations (AVM). It has unique clinical presentation, angiographic characteristics, and pathophysiology which often brings challenges for the treatment. We aimed to define its epidemiology, pathophysiology are unknown, and best management strategies. METHODS: A systematic review was conducted according to the PRISMA guidelines. MEDLINE was searched for articles regarding CPA. Extracted data included epidemiological, clinical, and angiographical characteristics, treatment, and outcomes. Treatment was classified as conservative, radiosurgery, endovascular, decompression, and indirect vascularization. A meta-analytical approach was employed for description of the data as study-size adjusted percentages or weighted means, as appropriate. RESULTS: Thirty-three studies were analyzed, rendering a total 95 cases-half of which came from a single study. Patients were predominantly young (mean 23 years old) and female (60.0%) presenting with headaches (44.9%), seizures (37.1%), or transient ischemic attacks (33.7%). Hemorrhage was present in 18.0%, but rebleeding rates were as high as 67%. The majority of nidus were > 6 cm (52.5%) with hemispheric extension (73.0%). Capillary angioectatic appearance (85.7%), transdural supply (62.5%), and deep venous drainage (73.0%) were also frequent features. Most patients were treated conservatively (54.4%), followed by endovascular (34.2%). Indirect vascularization and radiosurgery were attempted in five and two patients, respectively. Mean follow-up was 110.8 patient-years. Neurological status improved in 50.7%, remained stable in 40.2%, and worsened in 9.0%. CONCLUSIONS: Conservative and endovascular treatments seem adequate interventions, despite limited evidence. Complementary techniques can be used in patients throughout disease history, according to symptom-based, individualized approach. More studies are required for choosing interventions based on reliable long-term results.

Decompressive Craniectomy for Traumatic Brain Injury: Postoperative TCD Cerebral Hemodynamic Evaluation.

Background: There are no studies describing the cerebral hemodynamic patterns that can occur in traumatic brain injury (TBI) patients following decompressive craniectomy (DC). Such data have potentially clinical importance for guiding the treatment. The objective of this study was to investigate the postoperative cerebral hemodynamic patterns, using transcranial Doppler (TCD) ultrasonography, in patients who underwent DC. The relationship between the cerebral circulatory patterns and the patients' outcome was also analyzed. Methods: Nineteen TBI patients with uncontrolled brain swelling were prospectively studied. Cerebral blood circulation was evaluated by TCD ultrasonography. Patients and their cerebral hemispheres were categorized based on TCD-hemodynamic patterns. The data were correlated with neurological status, midline shift on CT scan, and Glasgow outcome scale scores at 6 months after injury. Results: Different cerebral hemodynamic patterns were observed. One patient (5.3%) presented with cerebral oligoemia, 4 patients (21%) with cerebral hyperemia, and 3 patients (15.8%) with cerebral vasospasm. One patient (5.3%) had hyperemia in one cerebral hemisphere and vasospasm in the other hemisphere. Ten patients (52.6%) had nonspecific circulatory pattern. Abnormal TCD-circulatory patterns were found in 9 patients (47.4%). There was no association between TCD-cerebral hemodynamic findings and outcome. Conclusion: There is a wide heterogeneity of postoperative cerebral hemodynamic findings among TBI patients who underwent DC, including hemodynamic heterogeneity between their cerebral hemispheres. DC was proved to be effective for the treatment of cerebral oligoemia. Our data support the concept of heterogeneous nature of the pathophysiology of the TBI and suggest that DC as the sole treatment modality is insufficient.

Global miRNA expression profile reveals novel molecular players in aneurysmal subarachnoid haemorrhage.

The molecular mechanisms behind aneurysmal subarachnoid haemorrhage (aSAH) are still poorly understood. Expression patterns of miRNAs may help elucidate the post-transcriptional gene expression in aSAH. Here, we evaluate the global miRNAs expression profile (miRnome) of patients with aSAH to identify potential biomarkers. We collected 33 peripheral blood samples (27 patients with cerebral aneurysm, collected 7 to 10 days after the haemorrhage, when usually is the cerebral vasospasm risk peak, and six controls). Then, were performed small RNA sequencing using an Illumina Next Generation Sequencing (NGS) platform. Differential expression analysis identified eight differentially expressed miRNAs. Among them, three were identified being up-regulated, and five down-regulated. miR-486-5p was the most abundant expressed and is associated with poor neurological admission status. In silico miRNA gene target prediction showed 148 genes associated with at least two differentially expressed miRNAs. Among these, THBS1 and VEGFA, known to be related to thrombospondin and vascular endothelial growth factor. Moreover, MYC gene was found to be regulated by four miRNAs, suggesting an important role in aneurysmal subarachnoid haemorrhage. Additionally, 15 novel miRNAs were predicted being expressed only in aSAH, suggesting possible involvement in aneurysm pathogenesis. These findings may help the identification of novel biomarkers of clinical interest.

Surgical Treatment of Posterior Circulation Aneurysms ­ Anatomical Study and Surgical Technique

Posterior circulation aneurysms represent 10­15% of intracranial aneurysms. The diagnosis is usually secondary to subarachnoid hemorrhage due to its initial asymptomatic presentation and higher risk of rupture compared with aneurysms in the anterior circulation. The surgical treatment of posterior circulation aneurysms is complex and challenging for neurosurgeons because of the particular anatomy of the posterior circulation with its close relation to the brainstem and cranial nerves and also because of the depth and narrowness of the surgical approach. Aneurysms from different locations have specific anatomical relationships and surgical approaches for better visualization and dissection. Therefore, a detailed anatomy knowledge of the posterior circulation is mandatory for an individualized preoperative planning and good neurological and angiographic outcomes.We selected the main aneurysm sites on the posterior circulation, such as: posterior inferior cerebellar artery, basilar trunk, basilar bifurcation, posterior cerebral artery (PCA) and superior cerebellar artery for a detailed description of the relevant anatomy related to aneurysm, and the main surgical approaches for its surgical treatment. Furthermore, we performed a literature review with the most recent outcomes regarding to the surgical treatment of posterior circulation aneurysms.

Aneurismas de circulação posterior representam de 10­15% dos aneurismas intracranianos. O diagnóstico, frequentemente, é secundário a hemorragia subaracnoide devido à apresentação assintomática na maioria dos casos e ao alto risco de sangramento comparado com aneurismas da circulação anterior. O tratamento cirúrgico de aneurismas de circulação posterior é complexo e desafiador para os neurocirurgiões devido à anatomia particular da região, profundidade do acesso cirúrgico, e relação intima com o tronco encefálico e os nervos cranianos. Aneurismas de diferentes localizações têm diferentes relações anatômicas e, portanto, acessos cirúrgicos específicos para melhor dissecção e visibilização de estruturas. Logo, um conhecimento detalhado de anatomia é mandatório para planejamento operatório individualizado e bons resultados clinico-radiológicos. Foram selecionadas as principais localizações de aneurismas de circulação posterior: Artéria cerebelar póstero-inferior; tronco de artéria basilar, bifurcação de artéria basilar, artéria cerebral posterior, e artéria cerebelar superior para detalhamento anatômico da anatomia relevante. O estudo objetiva realizar uma revisão da literatura dos principais resultados sobre tratamento cirúrgico de aneurismas de circulação posterior, além de descrever os principais pontos anatômicos relevantes à técnica microcirúrgica.

Frequency of the Loss of Heterozygosity of the NF2 Gene in Sporadic Spinal Schwannomas.

BACKGROUND/AIM: Individuals with type 2 Neurofibromatosis are predisposed for the appearance of schwannomas. In the present study we analyzed the loss of heterozygosity and mutations in the NF2 gene in patients with sporadic Schwannoma without Neurofibromatosis type 2. MATERIALS AND METHODS: We analyzed 39 patients with sporadic spinal schwannoma. We quantified the number of alleles by FISH and sequenced the NF2 gene. RESULTS: We identified 16/39 patients with point mutations and/or LOHs in the tumor samples analyzed. The LOHs were found in 7/39 patients. Two homozygous mutations were detected in 4/39 tumors, and the presence of the mutation in heterozygosis was revealed in 3/39 patients. In two tumors, we detected the loss of one allele of the NF2 gene, with no mutation. CONCLUSION: The genetic alterations observed in the NF2 gene indicated that spinal schwannomas are associated with genetic alterations also found in other schwannomas and type 2 Neurofibromatosis, which reinforces the etiological role of this gene.

Relationship between endothelial nitric oxide synthase (eNOS) and natural history of intracranial aneurysms: meta-analysis.

The aneurysmal subarachnoid hemorrhage is a major public health problem described as a sudden drastic event with no warning symptoms and high morbidity and mortality rates. The role of the endothelial isoform of nitric oxide synthase gene polymorphism in intracranial aneurysms (IAs) is still a matter of controversy with divergent findings among European, American, and Asian populations. Our study purposed to test the association between intracranial aneurysms formation and nitric oxide gene polymorphisms through a systematic review and meta-analysis. Systematic search on Medline, Lilacs, and EMBASE was performed. The primary search resulted in 139 papers, out of which 9 met our inclusion criteria after a full text analysis. The dominant T786C model found a significant association with IA (OR 1.22, 95 % CI 1.04-1.44, p = 0.01), so did studies of the recessive T786C model (OR 0.37, 95 % CI 0.30-0.45, p < 0.0001) but with opposite effect. Our findings support the presence of the T786C polymorphism as a predictor for the development of intracranial aneurysm in the cerebral vascular system. More studies are necessary in order to elucidate the pathways of the endothelial nitric oxide synthase (eNOS) in cerebrovascular diseases and in defining how different allelic combinations of the eNOS gene single-nucleotide polymorphism (SNP) could favor this pathological process.

Three Extremely Rare Findings in the Same Patient: Harlequin Syndrome, Thyrocervical Trunk Aneurysm, and Systemic-Pulmonary Arterio-Arterial Fistula.

Harlequin syndrome is a rare autonomic disorder characterized by unilateral diminished sweating and flushing of the face in response to heat or exercise. Extrinsic ganglion compressions, most of the times by neoplasms, can induce the syndrome. During investigation of a 27-year-old woman presenting Harlequin syndrome with diminished sweating on the left side and flushing of the right half of her face, a left thyrocervical trunk aneurysm was detected by angio-magnetic resonance imaging. Thyrocervical trunk aneurysms are rare, and only a few cases have been reported. Treatment is advised due to possible rupture and airway compression by the resulting hematoma. Endovascular treatment was scheduled. Angiographies revealed bronchial arteries arising from a common trunk at the right thyrocervical trunk and the left bronchial artery was feeding an arterio-arterial fistula to the left pulmonary artery; the left thyrocervical trunk aneurysm was confirmed and an anomalous artery arising from the aneurysm converged to the left pulmonary artery arterio-arterial fistula; the fistula was also supplied by a branch of the left internal mammary artery. The young age and lack of clinical antecedents suggest a congenital etiology for this fistula. The treatment was postponed until cardiopulmonary repercussions of the arterio-arterial fistula could be assessed. Coil embolization of the aneurysm was performed in a second procedure. The fistula was not treated. The patient has been followed up for 12 months without complications.

Cerebral hemodynamic and metabolic changes in fulminant hepatic failure.

Intracranial hypertension and brain swelling are a major cause of morbidity and mortality of patients suffering from fulminant hepatic failure (FHF). The pathogenesis of these complications has been investigated in man, in experimental models and in isolated cell systems. Currently, the mechanism underlying cerebral edema and intracranial hypertension in the presence of FHF is multi-factorial in etiology and only partially understood. The aim of this paper is to review the pathophysiology of cerebral hemodynamic and metabolism changes in FHF in order to improve understanding of intracranial dynamics complication in FHF.

Cerebral hemodynamic and metabolic changes in fulminant hepatic failure / Modificações da hemodinâmica e metabolismo cerebral na insuficiência hepatica fulminante

ABSTRACT Intracranial hypertension and brain swelling are a major cause of morbidity and mortality of patients suffering from fulminant hepatic failure (FHF). The pathogenesis of these complications has been investigated in man, in experimental models and in isolated cell systems. Currently, the mechanism underlying cerebral edema and intracranial hypertension in the presence of FHF is multi-factorial in etiology and only partially understood. The aim of this paper is to review the pathophysiology of cerebral hemodynamic and metabolism changes in FHF in order to improve understanding of intracranial dynamics complication in FHF.

RESUMO O edema cerebral e a hipertensão intracraniana (HIC) são as principais causas de morbidade e mortalidade de pacientes com insuficiência hepática fulminante (IHF). A patogênese dessas complicações tem sido investigada no homem, em modelos experimentais e em sistemas celulares isolados. Atualmente, o mecanismo subjacente ao edema cerebral e HIC na presença de IHF é multifatorial em etiologia e pouco compreendido na literatura. O objetivo deste trabalho é revisar a fisiopatologia das alterações hemodinâmicas e metabólicas cerebrais na IHF, visando melhorar a compreensão da complicação da hemodinâmica encefálica na IHF.

Carotid rete mirabile associated with subarachnoid hemorrhage from intracranial aneurysm: A case report and systematic review.

Carotid rete mirabile (CRM) is a rare physiological vascular network in humans that is most often found in Eastern populations. This paper describes a CRM associated with an aneurysmal subarachnoid hemorrhage (aSAH) and discusses the details of the patient's treatment. A 28-year-old woman was admitted to our service with clinical signs and symptoms of a spontaneous aSAH. Computed tomography revealed a diffuse and extensive SAH (Fisher group IV), while an angiogram showed an abnormal collateral network in the right carotid system and a hypoplastic aspect to the internal carotid artery (ICA) on the same side. In addition, a saccular aneurysm with a diameter of 9.5 mm was present in the ophthalmic segment of the left ICA. This case is extremely uncommon. To avoid rebleeding in the patient, we successfully treated the patient by clipping the aneurysmal lesion. No procedure was performed for the CRM.