Glioma infiltrativo do tronco cerebral simulando encefalite

Univ. de São Paulo Fac. Med.Escola Paulista de MedicinaUNIFESP, EPMSciEL

Pancreas and islet transplantation in patients with diabetes mellitus

Pancreas and kidney transplants have specific indications, benefits and risks. The procedure has become more common and more often as long-term success has improved and risks have decreased. Compared with a patient being on dialysis, simultaneous pancreas-kidney transplant offers a distinct advantage when it comes to mortality, quality of life and diabetic complications. Since there can be a living-donor kidney transplant,, a possibly similar patient and graft survival by 10 years follow-up, this procedure should be considered. Pancreas after kidney transplants, when successful, can improve microvascular complications compared with kidney transplant alone, but immediate mortality may be higher. Solitary pancreas transplantation can improve the quality of life in selected patients, but it may also increase the immediate risk of mortality due to the complexity of the surgery and the risks of immunosupression. The results of Islet transplantation differ from the higher metabolic performance achieved by whole pancreas allotransplantation and its applicability is limited to selected adult diabetic patients.O transplante simultâneo de pâncreas/rim tem indicações específicas, riscos e benefícios. O procedimento, cada vez mais realizado, traz vantagens se comparado ao paciente em diálise, em relação à qualidade de vida, anos de vida ganhos e evolução das complicações crônicas. Se o paciente tiver a opção de realizar o transplante de rim com doador vivo, que apresenta sobrevida semelhante do enxerto e do paciente aos dez anos, o procedimento deverá ser considerado. O transplante de pâncreas após rim, quando efetivo, pode melhorar a evolução das complicações cardiovasculares, mas em contrapartida provoca maior mortalidade nos primeiros meses após a cirurgia. O transplante isolado de pâncreas também ocasiona a maior mortalidade pós-operatória, resultado da complexidade do procedimento e da imunossupressão. O transplante de ilhotas tem sua indicação para um seleto grupo de diabéticos com instabilidade glicêmica.Universidade Federal de São Paulo (UNIFESP) Departamento de Medicina Departamento de CirurgiaPontifícia Universidade Católica do Rio Grande do Sul Hospital São Lucas Serviço de NefrologiaUniversidade de São Paulo Núcleo de Terapia Celular e MolecularSistema de Saúde Centro de Pesquisa Médica Notre-Dame IntermédicaUSP Faculdade de Medicina Departamento de Clínica MédicaUniversidade Federal do Rio Grande do Sul Departamento de Medicina InternaHospital Israelita Albert Einstein Serviço de Transplante de PâncreasUNIFESP, Depto. de Medicina Depto. de CirurgiaSciEL

GestaltMatcher Database - A global reference for facial phenotypic variability in rare human diseases

The most important factor that complicates the work of dysmorphologists is the significant phenotypic variability of the human face. Next-Generation Phenotyping (NGP) tools that assist clinicians with recognizing characteristic syndromic patterns are particularly challenged when confronted with patients from populations different from their training data. To that end, we systematically analyzed the impact of genetic ancestry on facial dysmorphism. For that purpose, we established the GestaltMatcher Database (GMDB) as a reference dataset for medical images of patients with rare genetic disorders from around the world. We collected 10,980 frontal facial images - more than a quarter previously unpublished - from 8,346 patients, representing 581 rare disorders. Although the predominant ancestry is still European (67%), data from underrepresented populations have been increased considerably via global collaborations (19% Asian and 7% African). This includes previously unpublished reports for more than 40% of the African patients. The NGP analysis on this diverse dataset revealed characteristic performance differences depending on the composition of training and test sets corresponding to genetic relatedness. For clinical use of NGP, incorporating non-European patients resulted in a profound enhancement of GestaltMatcher performance. The top-5 accuracy rate increased by +11.29%. Importantly, this improvement in delineating the correct disorder from a facial portrait was achieved without decreasing the performance on European patients. By design, GMDB complies with the FAIR principles by rendering the curated medical data findable, accessible, interoperable, and reusable. This means GMDB can also serve as data for training and benchmarking. In summary, our study on facial dysmorphism on a global sample revealed a considerable cross ancestral phenotypic variability confounding NGP that should be counteracted by international efforts for increasing data diversity. GMDB will serve as a vital reference database for clinicians and a transparent training set for advancing NGP technology.</p

Lateral syndrome of the medulla oblongata (Wallenberg's syndrome) as a complication of a vertebral angiography: a case report

Case report of a female patient, 58 years old, who, due to a right homonymous hemianopsia, was submitted under general anesthesia successively to angiographies through the right carotid and vertebral arteries. At the first examination no abnormalities were evidenced, but the contrast medium did not reach the posterior cerebral artery; angiography by the right vertebral artery, with extravasation of the contrast medium into the vessel wall, visualized both posterior cerebral arteries. Immediately after the angiographic study, the patient presented the characteristic picture of the Wallenberg's syndrome caused by involvement of the right lateral part of the medulla oblongata. The evolution of the case was good, despite the residual right hemifacial neuralgic pain. An involvement of the vertebral artery, through an intramural injection of Hypaque is assumed to be the most probable pathogenic mechanism. The reported complication is considered as one more warning to prevent angiographies of the vertebral artery through direct puncture of this vessel, due to its recognized anatomical variations

Lateral syndrome of the medulla oblongata (Wallenberg's syndrome) as a complication of a vertebral angiography: a case report Síndrome lateral do bulbo (Wallenberg) como complicação de angiografia pela artéria vertebral

Case report of a female patient, 58 years old, who, due to a right homonymous hemianopsia, was submitted under general anesthesia successively to angiographies through the right carotid and vertebral arteries. At the first examination no abnormalities were evidenced, but the contrast medium did not reach the posterior cerebral artery; angiography by the right vertebral artery, with extravasation of the contrast medium into the vessel wall, visualized both posterior cerebral arteries. Immediately after the angiographic study, the patient presented the characteristic picture of the Wallenberg's syndrome caused by involvement of the right lateral part of the medulla oblongata. The evolution of the case was good, despite the residual right hemifacial neuralgic pain. An involvement of the vertebral artery, through an intramural injection of Hypaque is assumed to be the most probable pathogenic mechanism. The reported complication is considered as one more warning to prevent angiographies of the vertebral artery through direct puncture of this vessel, due to its recognized anatomical variations.<br>Registro do caso de uma mulher, de 58 anos de idade que, por apresentar hemianopsia homonima direita, foi submetida, sob anestesia geral, sucessivamente, a angiografias, pelas artérias carótida e vertebral direitas. Ao primeiro exame não se evidenciou qualquer anormalidade, mas o contraste não atingiu a artéria cerebral posterior; a angiografia pela artéria vertebral direita, com estravazamento do contraste na parede vascular, visualizou ambas as artérias cerebrais posteriores. Imediatamente após o estudo angiográfico, a paciente apresentou o quadro característico da síndrome de Wallenberg, causada pelo comprometimento da porção lateral direita do bulbo. A evolução do caso foi satisfatória, a despeito da dôr nevrálgica residual na metade direita da face. Um comprometimento da artéria vertebral, pela injeção intramural de Hypaque foi considerado como o mecanismo patogênico mais provável. A complicação registrada é considerada como um argumento a mais para se evitar angiografias da artéria vertebral mediante punção direta deste vaso, devido a suas grandes variações anatômicas