Angiografia por ressonância magnética: aspectos técnicos de um método de estudo vascular não-invasivo

As primeiras técnicas de angiografia por ressonância magnética (angio-RM) utilizavam seqüências sensíveis ao fluxo sanguíneo para estabelecimento do contraste vascular. Há três técnicas fundamentadas neste princípio: contraste de fase ("phase-contrast"), TOF ("time-of-flight") e as técnicas de sangue escuro ("black blood"). Estas seqüências, de aquisição demorada, são mais suscetíveis a artefatos de movimento, perda de sinal em áreas de estenoses ou turbilhonamento de fluxo, e apresentam ainda baixa sensibilidade à detecção do fluxo lento. O uso do contraste paramagnético para estudos angiográficos pela ressonância magnética ofereceu um método simples, rápido e de excelente detalhamento vascular, baseando o contraste da imagem no realce do sinal vascular em oposição à supressão dos demais tecidos. Metodologias modernas que priorizam a obtenção do espaço k central, responsável pelo contraste da imagem, e o aperfeiçoamento das técnicas de planejamento do intervalo temporal para aquisição dos dados foram fatores fundamentais para o aprimoramento técnico da angio-RM. O papel atual da angio-RM como ferramenta diagnóstica merece destaque na avaliação de anomalias anatômicas, estenoses, oclusões e complicações vasculares pós-cirúrgicas, principalmente nos casos de transplantes de órgãos. Suas principais vantagens estão na não utilização do contraste iodado ou radiação ionizante, rapidez e fácil execução, mínima invasividade e possibilidade de avaliar complementarmente o parênquima de órgãos adjacentes de interesse diagnóstico.

Congenital hypogonadotropic hypogonadism with split hand/foot malformation: a clinical entity with a high frequency of FGFR1 mutations.

PURPOSE: Congenital hypogonadotropic hypogonadism (CHH) and split hand/foot malformation (SHFM) are two rare genetic conditions. Here we report a clinical entity comprising the two. METHODS: We identified patients with CHH and SHFM through international collaboration. Probands and available family members underwent phenotyping and screening for FGFR1 mutations. The impact of identified mutations was assessed by sequence- and structure-based predictions and/or functional assays. RESULTS: We identified eight probands with CHH with (n = 3; Kallmann syndrome) or without anosmia (n = 5) and SHFM, seven of whom (88%) harbor FGFR1 mutations. Of these seven, one individual is homozygous for p.V429E and six individuals are heterozygous for p.G348R, p.G485R, p.Q594*, p.E670A, p.V688L, or p.L712P. All mutations were predicted by in silico analysis to cause loss of function. Probands with FGFR1 mutations have severe gonadotropin-releasing hormone deficiency (absent puberty and/or cryptorchidism and/or micropenis). SHFM in both hands and feet was observed only in the patient with the homozygous p.V429E mutation; V429 maps to the fibroblast growth factor receptor substrate 2α binding domain of FGFR1, and functional studies of the p.V429E mutation demonstrated that it decreased recruitment and phosphorylation of fibroblast growth factor receptor substrate 2α to FGFR1, thereby resulting in reduced mitogen-activated protein kinase signaling. CONCLUSION: FGFR1 should be prioritized for genetic testing in patients with CHH and SHFM because the likelihood of a mutation increases from 10% in the general CHH population to 88% in these patients.Genet Med 17 8, 651-659.

Dopplervelocimetria colorida dos vasos orbitais: técnica de exame e anatomia vascular normal

A dopplervelocimetria colorida é uma modalidade do exame ultra-sonográfico que se expandiu rapidamente em todas as áreas da medicina, em virtude da sua riqueza de informações. A dopplervelocimetria colorida das artérias orbitais tem sido empregada no auxílio diagnóstico de doenças oftalmológicas, bem como para o estudo de doenças específicas como a pré-eclâmpsia. O objetivo deste estudo é descrever a anatomia normal da região orbital e detalhar a técnica de exame dopplervelocimétrico colorido, tendo em vista ser este um exame acessível e reprodutível. Acreditamos que surgirão novas aplicações deste método, que deverá ser inserido na prática diária do radiologista, visando à melhoria da qualidade do diagnóstico e seguimento das doenças oculares e sistêmicas.

Rare anorectal malformation with a non-terminal colovesical fistula

We describe a unique case of anorectal malformation (ARM) with a non-terminal colovesical fistula. While some aspects are similar to the congenital pouch colon (CPC), the differences make it a distinct form.

Disjunct populations of European vascular plant species keep the same climatic niches

Aim Previous research on how climatic niches vary across species ranges has focused on a limited number of species, mostly invasive, and has not, to date, been very conclusive. Here we assess the degree of niche conservatism between distant populations of native alpine plant species that have been separated for thousands of years. Location European Alps and Fennoscandia. Methods Of the studied pool of 888 terrestrial vascular plant species occurring in both the Alps and Fennoscandia, we used two complementary approaches to test and quantify climatic-niche shifts for 31 species having strictly disjunct populations and 358 species having either a contiguous or a patchy distribution with distant populations. First, we used species distribution modelling to test for a region effect on each species' climatic niche. Second, we quantified niche overlap and shifts in niche width (i.e. ecological amplitude) and position (i.e. ecological optimum) within a bi-dimensional climatic space. Results Only one species (3%) of the 31 species with strictly disjunct populations and 58 species (16%) of the 358 species with distant populations showed a region effect on their climatic niche. Niche overlap was higher for species with strictly disjunct populations than for species with distant populations and highest for arctic-alpine species. Climatic niches were, on average, wider and located towards warmer and wetter conditions in the Alps. Main conclusion Climatic niches seem to be generally conserved between populations that are separated between the Alps and Fennoscandia and have probably been so for 10,000-15,000 years. Therefore, the basic assumption of species distribution models that a species' climatic niche is constant in space and time - at least on time scales 104 years or less - seems to be largely valid for arctic-alpine plants.

Prevention of vascular dysfunction and arterial hypertension in mice generated by assisted reproductive technologies by addition of melatonin to culture media.

Assisted reproductive technologies (ART) induce vascular dysfunction in humans and mice. In mice, ART-induced vascular dysfunction is related to epigenetic alteration of the endothelial nitric oxide synthase (eNOS) gene, resulting in decreased vascular eNOS expression and nitrite/nitrate synthesis. Melatonin is involved in epigenetic regulation, and its administration to sterile women improves the success rate of ART. We hypothesized that addition of melatonin to culture media may prevent ART-induced epigenetic and cardiovascular alterations in mice. We, therefore, assessed mesenteric-artery responses to acetylcholine and arterial blood pressure, together with DNA methylation of the eNOS gene promoter in vascular tissue and nitric oxide plasma concentration in 12-wk-old ART mice generated with and without addition of melatonin to culture media and in control mice. As expected, acetylcholine-induced mesenteric-artery dilation was impaired (P = 0.008 vs. control) and mean arterial blood pressure increased (109.5 ± 3.8 vs. 104.0 ± 4.7 mmHg, P = 0.002, ART vs. control) in ART compared with control mice. These alterations were associated with altered DNA methylation of the eNOS gene promoter (P < 0.001 vs. control) and decreased plasma nitric oxide concentration (10.1 ± 11.1 vs. 29.5 ± 8.0 μM) (P < 0.001 ART vs. control). Addition of melatonin (10(-6) M) to culture media prevented eNOS dysmethylation (P = 0.005, vs. ART + vehicle), normalized nitric oxide plasma concentration (23.1 ± 14.6 μM, P = 0.002 vs. ART + vehicle) and mesentery-artery responsiveness to acetylcholine (P < 0.008 vs. ART + vehicle), and prevented arterial hypertension (104.6 ± 3.4 mmHg, P < 0.003 vs. ART + vehicle). These findings provide proof of principle that modification of culture media prevents ART-induced vascular dysfunction. We speculate that this approach will also allow preventing ART-induced premature atherosclerosis in humans.

Utilização do índice de resistência vascular na diferenciação entre nódulos mamários benignos e malignos

OBJETIVO: O objetivo deste estudo foi avaliar o significado do Doppler espectral por meio da obtenção do índice de resistência vascular na diferenciação entre lesões mamárias benignas e malignas. MATERIAIS E MÉTODOS: Dezenove lesões malignas e 18 benignas, diagnosticadas por estudo histológico, foram submetidas previamente a análise de sua vascularização por meio do Doppler espectral para se obter o índice de resistência vascular. RESULTADOS: Observou-se diferença estatisticamente significante (p < 0,001) entre os valores médios do índice de resistência para os resultados benigno e maligno (0,62x 0,80, respectivamente), em nódulos maiores que 1 cm. Um índice de resistência 0,69 foi altamente associado a lesões malignas, com sensibilidade de 84,2%, especificidade de 88,9%, taxa de falso-positivo de 11,1% e taxa de falso-negativo de 15,8%. CONCLUSÃO: A análise do índice de resistência vascular pode fornecer grande auxílio na avaliação das lesões nodulares da mama maiores que 1 cm, em conjunto com as informações obtidas por meio da escala de cinzas, com elevada sensibilidade e especificidade.

Pathologies vasculaires lymphatiques: apport de la lympho-fluoroscopie [Lymphatic vascular pathologies: contribution of lympho-fluoroscopy].

Si l'examen clinique revêt une importance essentielle en lymphologie et exige des praticiens expérimentés, la lymphoscintigraphie et plus récemment la lympho-fluoroscopie au vert d'indocyanine constituent des moyens d'investigation précieux dans la prévention, le diagnostic et le traitement des pathologies vasculaires lymphatiques. L'intérêt de la lymphoscintigraphie réside dans l'analyse qualitative et quantitative de la migration des macromolécules par les vaisseaux lymphatiques et l'évaluation du secteur lymphatique profond. La lympho-fluoroscopie se distingue de la lymphoscintigraphie par l'obtention d'une cartographie détaillée des vaisseaux lymphatiques superficiels et d'images dynamiques en temps réel. Elle apporte à l'angiologue et au physiothérapeute des informations irremplaçables sur leur contractilité et la présence de dérivations compensatoires à privilégier lors du drainage lymphatique manuel. If clinical examination has an essential importance in lymphology disorders and requires experimented practitioners, lymphoscintigraphy and more recently green indocyanine lympho-fluoroscopy constitute precious complementary investigations in prevention, diagnosis, and treatment of lymphatic vascular pathologies. The lymphoscintigraphy interest lies in qualitative and quantitative analysis of macromolecules migration within lymphatic vessels and the deep lymphatic network. The lympho-fluoroscopy distinguishes itself from lymphoscintigraphy allowing real time superficial lymphatic vessels detailed mapping, gathering important information on their contractility, and the presence of compensatory derivations to be favored during manual lymphatic drainage to angiologist and physiotherapist.

Secondary growth of the Arabidopsis hypocotyl-vascular development in dimensions.

The secondary thickening of plant organs in extant dicotyledons is a massive growth process that constitutes the major carbon sink in perennial, woody plants. Yet, our understanding of its molecular genetic control has been mostly obtained by its analysis in an herbaceous annual model, Arabidopsis. Recent years have seen increased interest in this somewhat under-researched topic, and various (non-)cell autonomous factors that guide the extent and vascular patterning of secondary growth have been identified. Concomitantly, a more detailed understanding of vascular differentiation processes has been obtained through analyses of primary growth, mostly in the root meristem. A future challenge will be the integration of these patterning and differentiation modules together with cambial activity into the 4-dimensional frame of secondary thickening.

Radiological findings of uterine arteriovenous malformation: a case report of an unusual and life-threatening cause of abnormal vaginal bleeding

Uterine arteriovenous malformations may cause life-threatening abnormal genital bleeding in women at childbearing age. Transvaginal Doppler ultrasonography is a widely available, noninvasive and excellent diagnostic method. The authors report the case of a patient with history of gestational trophoblastic disease and multiple curettage procedures who developed uterine arteriovenous malformations, with remission of the lesions after treatment with methotrexate.