Intracranial aneurysm and arachnoid cyst: just a coincidence? A case report.

CONTEXT: Presence of an arachnoid cyst and a non-ruptured intracystic brain aneurysm is extremely rare. The aim of this paper was to describe a case of a patient with an arachnoid cyst and a non-ruptured aneurysm inside it. Clinical, surgical and radiological data were analyzed and the literature was reviewed. CASE REPORT: A patient complained of chronic headache. She was diagnosed as having a temporal arachnoid cyst and a non-ruptured middle cerebral artery aneurysm inside it. Surgery was performed to clip the aneurysm and fenestrate the cyst. CONCLUSIONS: This report raises awareness about the importance of intracranial vascular investigation in patients with arachnoid cysts and brain hemorrhage.

Spontaneous acute subdural hematoma: A rare presentation of a dural intracranial fistula.

Dural arteriovenous fistulas are acquired lesions between the meningeal arteries and their associated draining veins. They may have highly variable clinical presentations and evolution, from severe neurological deficit to no or trivial symptoms. Intracranial hemorrhage occurs in less than 24% of all dural fistulas, and the bleeding is usually subarachnoid, more infrequently intracerebral, and rarely in the subdural space. Here, we present a rare case of a patient who presented with a subdural spontaneous hemorrhage. After investigation by cerebral angiography, the diagnosis of a dural arteriovenous fistula was made. The patient underwent uneventful endovascular treatment. As there are with only a few reports in the literature of such a presentation, we present this patient and perform a brief review of the literature.

Advances in the endovascular treatment of direct carotid-cavernous fistulas.

Carotid cavernous fistulas (CCFs) are abnormal connections between the carotid artery and the cavernous sinus. They are considered direct when there is a direct connection between the internal carotid artery and the cavernous sinus. These cases are generally traumatic. Direct CCFs are high-flow lesions, possibly related to intracranial bleeding, visual loss, corneal exposure or even fatal epistaxis. Treatment of such lesions is, thus, always recommended. The ideal treatment for direct CCF is to exclude the fistula from circulation, preserving the carotid flow. This can be attained using diverse endovascular techniques. The objective of the present article is to review the current techniques for treatment of direct CCFs, with special attention to the currently available endovascular treatment options.

Cerebral Metastasis from Breast Cancer in a Male Patient with HIV.

Context. Breast cancer (BC) in men is a rare condition, corresponding to 1% of all neoplasms in this gender. Some studies show that up to 93% of BC cases in men are advanced disease. If its occurrence constitutes an uncommon fact, the appearance of a metastasis to the central nervous system (CNS) is extremely rare. The objective of the present study is to present the case of a male patient, bearer of HIV infection, who presented with BC and later metastasis to the CNS. We also include a brief review of the literature. Case Report. We describe a case of a male patient, 59 years old, with HIV infection and a history of BC treated 4 years earlier, which progressed into headache and vertigo. Neuroimaging exams showed lesions suggestive of cerebral metastasis and a stereotaxic biopsy confirmed BC metastasis. Conclusion. Breast cancer in men with metastasis to the CNS is a rare condition and similar reports were not found in the available databases. It should be pointed out that even though rare, it should be considered among the differential diagnoses for SNC metastases in men, although HIV infection favors the appearance of some types of cancer.

[Technical and functional aspects of catheterization of inferior petrosal sinuses in ACTH dependent Cushing's syndrome]. / Aspectos técnicos e funcionais da cateterização dos seios petrosos inferiores na síndrome de Cushing ACTH dependente.

OBJECTIVE: To describe and analyze technique for bilateral catheterization of inferior petrosal sinus in our service, discussing the difficulties and success rates found. SUBJECTS AND METHODS: Fourteen patients with suspected Cushing's syndrome underwent bilateral inferior petrosal sinuses (IPS) catheterization between 2009 and 2012. The technique for catheterization and for hormone analysis were described. RESULTS: The procedure was well tolerated by all patients, and adequate catheterization was achieved in 92.85% of cases. The diagnosis of Cushing's disease was confirmed in 10 cases. The result of IPS catheterization after CRH infusion was coherent in all cases, without false negatives. CONCLUSION: The catheterization of IPS, despite being an invasive technique, is a safe procedure. The objectives can be done properly in most cases. When well indicated, this procedure remains the gold standard in distinguishing the ectopic form to pituitary source in Cushing's syndrome.

Advances in the endovascular treatment of direct carotid-cavernous fistulas / Avanços no tratamento endovascular de fístulas carotidocavernosas diretas

SUMMARY Carotid cavernous fistulas (CCFs) are abnormal connections between the carotid artery and the cavernous sinus. They are considered direct when there is a direct connection between the internal carotid artery and the cavernous sinus. These cases are generally traumatic. Direct CCFs are high-flow lesions, possibly related to intracranial bleeding, visual loss, corneal exposure or even fatal epistaxis. Treatment of such lesions is, thus, always recommended. The ideal treatment for direct CCF is to exclude the fistula from circulation, preserving the carotid flow. This can be attained using diverse endovascular techniques. The objective of the present article is to review the current techniques for treatment of direct CCFs, with special attention to the currently available endovascular treatment options.

RESUMO As fístulas carotidocavernosas (FCC) são comunicações anormais entre a artéria carótida e o seio cavernoso. Elas são consideradas diretas quando há uma comunicação direta entre a artéria carótida interna e o seio cavernoso. Nesses casos, são geralmente traumáticas. As FCC diretas são lesões de alto fluxo, podendo estar relacionadas a sangramento intracraniano, perda visual, exposição corneana ou até mesmo a epistaxe fatal. Seu tratamento é sempre indicado. O tratamento ideal da FCC direta é a exclusão da fístula da circulação, com preservação do fluxo carotídeo. Isso pode ser obtido por meio de técnicas endovasculares diversas. O objetivo do presente artigo é realizar uma revisão sobre as FCC diretas, com especial enfoque nas opções de tratamento endovascular disponíveis na atualidade.

[Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome]. / Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2.

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

Aspectos técnicos e funcionais da cateterização dos seios petrosos inferiores na síndrome de Cushing ACTH dependente / Technical and functional aspects of catheterization of inferior petrosal sinuses in ACTH dependent Cushing’s syndrome

Objetivo Descrever e analisar a técnica empregada para a cateterização bilateral dos seios petrosos inferiores (SPI) em nosso serviço, discutindo as dificuldades e as taxas de sucesso encontradas. Sujeitos e métodos Entre 2009 e 2012, foram submetidos ao cateterismo bilateral dos SPI 14 pacientes com suspeita de síndrome de Cushing, sendo descrita a técnica empregada para o cateterismo e para a análise hormonal. Resultados O procedimento foi bem tolerado por todos os pacientes, sendo alcançada a cateterização adequada dos SPI em 92,85% dos casos. O diagnóstico de doença de Cushing foi firmado em 10 casos, sendo o resultado do cateterismo dos SPI após estímulo com CRH coerente em todos, não havendo falso-negativos. Conclusão O cateterismo dos SPI, apesar de ser uma técnica invasiva, é um procedimento seguro. A sua realização pode ser feita de forma adequada na maioria dos casos e, quando bem indicada, permanece como padrão-ouro na distinção da forma hipofisária da ectópica na síndrome de Cushing. .

Objective To describe and analyze technique for bilateral catheterization of inferior petrosal sinus in our service, discussing the difficulties and success rates found. Subjects and methods Fourteen patients with suspected Cushing’s syndrome underwent bilateral inferior petrosal sinuses (IPS) catheterization between 2009 and 2012. The technique for catheterization and for hormone analysis were described. Results The procedure was well tolerated by all patients, and adequate catheterization was achieved in 92.85% of cases. The diagnosis of Cushing’s disease was confirmed in 10 cases. The result of IPS catheterization after CRH infusion was coherent in all cases, without false negatives. Conclusion The catheterization of IPS, despite being an invasive technique, is a safe procedure. The objectives can be done properly in most cases. When well indicated, this procedure remains the gold standard in distinguishing the ectopic form to pituitary source in Cushing’s syndrome. .

Doença de Graves e deficiência de IgA como manifestações da síndrome de deleção 22q11.2 / Graves disease and IgA deficiency as manifestations of 22q11.2 deletion syndrome:

A síndrome de deleção 22q11.2 (SD22q11.2) está associada à alta variabilidade fenotípica, abrangendo o espectro velocardiofacial/síndrome de DiGeorge. Manifestações autoimunes, endocrinológicas e de imunodeficiência vêm sendo relatadas associadas à síndrome. O objetivo deste estudo foi relatar um caso de SD22q11.2 associado à deficiência de IgA e à doença de Graves e rever a literatura visando verificar a frequência dessas alterações na SD22q11.2. Os distúrbios autoimunes, cada vez mais relacionadas a SD22q11.2 e novos fenótipos, vêm sendo incorporadas ao seu espectro clínico. No presente estudo, verificou-se que a doença de Graves associada à SD22q11.2 foi relatada em apenas dezesseis pacientes e quinze descritos na literatura nos últimos 13 anos. Com base na incidência e na amplitude de seu espectro de manifestações já reconhecidas, reforçaram-se os achados da literatura de que a doença de Graves deve ser incluída nas manifestações da SD22q11.2, o que nos levaria a pesquisá-la nos portadores da deleção 22q11.2.

The 22q11.2 deletion syndrome (22q11.2DS) is related to a high phenotypic variability including the velocardiofacial/DiGeorge spectrum. Autoimmune, endocrine and immunodeficiency manifestations have been reportedly associated with the syndrome. The objective of this study was to report a case of 22q11.2DS associated with IgA deficiency and Graves disease and review literature in order to verify the frequency of syndrome alterations. Autoimmune disorders have been increasingly related to 22q11.2DS, and new phenotypes are being incorporated in the clinical spectrum of this syndrome. In our study we found that Graves disease in association with 22q11.2DS was reported in only sixteen patients, and fifteen cases were described in the last 13 years. Based on the incidence and on the amplitude of this recognized spectrum, we reinforce the findings of literature that Graves disease should be included on the 22q11.2DS manifestations, which would lead us to seek it with 22q11.2 deletion patients.

Quiz: um questionário eletrônico para autoavaliação e aprendizagem em genética e biologia molecular / Quiz: an electronic questionnaire for self-assessment and learning in genetics and molecular biology

O conhecimento sobre temas de Genética e Biologia Molecular, nos últimos anos, vem crescendo de maneira exponencial, demandando constante atualização, principalmente se considerarmos que, ao final do período de graduação, muito desse conhecimento está desatualizado. O Quiz de Genética e Biologia Molecular (GBM) foi proposto como nova ferramenta de ensino para complementar a abordagem dessa temática no ensino de ciências da saúde. Elaborado por alunos dos cursos de Medicina e Sistemas de Informação do UniFOA orientados pelos professores, o Quiz foi aplicado e avaliado por 159 alunos do terceiro período de Medicina. Os resultados mostraram excelente aceitação pelos alunos submetidos à ferramenta, apontando principalmente um aumento de interesse nos temas abordados e a possibilidade de reconhecimento das deficiências específicas de subtemas de cada aluno, facilitando correções no processo de aprendizagem. O Quiz surge como um novo instrumento didático que será atualizado e direcionado para as deficiências encontradas pelos alunos e ofertado de maneira presencial ou a distância.

Knowledge of genetics and molecular biology has improved so much in recent years that it requires constant updating, especially considering that a major portion of the knowledge acquired during undergraduate training is outdated by the end of the course. A quiz on genetics and molecular biology was proposed as a new tool to deal with this issue in health sciences teaching. The quiz, developed by students in the courses on medicine and computer studies at UniFOA and oriented by their teachers, was applied and evaluated by 159 third-year medical students. The results showed excellent acceptance by the students, indicating increasing interest in the topics presented and the possibility of identifying each student's specific knowledge needs, thus facilitating feedback into the learning process. The quiz is a new teaching tool that will be updated and focused on the students' knowledge gaps, and will be offered as an e-learning or distance learning system.

O uso do doppler intra-operatório na cirurgia para clipagem de aneurisma cerebral: nova técnica com caso ilustrativo / The utilization of intraoperative doppler in brain aneurysm surgery - technical note and illustrative case

The treatment outcome of cerebral aneurysms is influenced by several factors. Surgical treatment may have the evolution affected by the occurrence of cerebral ischemia resulted from inadvertent clipping of adjacent vessels. The risk of future aneurysm bleeding increases when incomplete aneurysm occlusion is done. The use of intraoperative Doppler to study the hemodynamics of aneurysms and adjacent vessels has been advocated as an assistant tool with recent analyzes of the safety and reliability. This case aims to present and discuss the situation in which after the initial clipping of the aneurysm, considered appropriate under the microscope, the Doppler showed residual intra-aneurysmal flow, and additional measures were done for the occlusion of the aneurysm.