2,155 research outputs found

    Hemangioma Cavernoso da Supra-Renal

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    INTRODUÇÃO: O hemangioma cavernoso da glândula supra-renal é um tumor benigno, raro, com menos de uma centena de casos reportados na literatura. É caracterizado na sua constituição por formações vasculares dilatadas e delimitadas por células endoteliais. Apresenta-se caracteristicamente como um incidentaloma e o seu diagnóstico é habitualmente estabelecido apenas no pós-operatório. CASO CLÍNICO: Doente de 73 anos referenciada por nódulo de 45mm da glândula supra-renal esquerda diagnosticado incidentalmente no seguimento de lesão quística renal. A avaliação imagiológica por TC revelou nódulo sólido de 45x28mm na glândula supra-renal esquerda. Realizou estudo para avaliar a autonomia do nódulo, e que revelou uma hipersecreção adrenérgica. Colocada a hipótese diagnóstica de feocromocitoma e proposta para cirurgia ablativa. Foi submetida a suprarrenalectomia esquerda laparoscópica, que decorreu sem intercorrências. O resultado histológico da peça operatória revelou um hemangioma cavernoso da supra-renal. DISCUSSÃO / CONCLUSÃO: A forma de apresentação mais comum do hemangioma cavernoso da supra-renal é a de um incidentaloma, implicando o diagnóstico diferencial com os vários tipos de lesões ocupando espaço deste órgão. Este facto associado à falta de especificidade dos exames pré-operatórios e à raridade da patologia compromete a acuidade diagnóstica. No presente caso, assim como na maioria dos reportados na literatura, esta patologia foi somente estabelecida no pós-operatório através do resultado anátomo-patológico

    Thyroid Metastasis as the Initial Presentation of an Asymptomatic Clear Cell Renal Carcinoma

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    Introdução: A metastização para a glândula tiroideia de um carcinoma renal de células claras é rara e só diagnosticável após análise imunohistoquímica de uma amostra histológica. O objetivo deste artigo é reportar um caso de metastização tiroideia como primeira manifestação de um carcinoma renal de células claras. Caso Clínico: Doente do sexo masculino com um nódulo sólido no lobo esquerdo da tiróide, com 5,3 cm, suspeito de malignidade, submetido a tiroidectomia total com linfadenectomia do compartimento central. A análise histológica concluiu serem duas metástases de carcinoma renal de células claras. Após estudo dirigido ao rim, o doente foi submetido a nefrectomia radical quatro meses depois. Discussão: O interesse deste caso reside no facto de a metastização para a tiroide como primeira manifestação de carcinoma renal de células claras ser rara mas, se tratada precocemente, permite uma ‘dupla resseção cirúrgica’ que pode levar a sobrevidas aos cinco anos de 80%

    Decompressive hemicraniectomy in severe cerebral venous thrombosis: a prospective case series

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    Small retrospective case series suggest that decompressive hemicraniectomy can be life saving in patients with cerebral venous thrombosis (CVT) and impending brain herniation. Prospective studies of consecutive cases are lacking. Thus, a single centre, prospective study was performed. In 2006 we adapted our protocol for CVT treatment to perform acute decompressive hemicraniectomy in patients with impending herniation, in whom the prognosis with conservative treatment was considered infaust. We included all consecutive patients with CVT between 2006 and 2010 who underwent hemicraniectomy. Outcome was assessed at 12 months with the modified Rankin Scale (mRS). Ten patients (8 women) with a median age of 41 years (range 26–52 years) were included. Before surgery 5 patients had GCS < 9, 9 patients had normal pupils, 1 patient had a unilaterally fixed and dilated pupil. All patients except one had space-occupying intracranial hemorrhagic infarcts. The median preoperative midline shift was 9 mm (range 3–14 mm). Unilateral hemicraniectomy was performed in 9 patients and bilateral hemicraniectomy in one. Two patients died from progressive cerebral edema and expansion of the hemorrhagic infarcts. Five patients recovered without disability at 12 months (mRS 0–1). Two patients had some residual handicap (one minor, mRS 2; one moderate, mRS 3). One patient was severely handicapped (mRS 5). Our prospective data show that decompressive hemicraniectomy in the most severe cases of cerebral venous thrombosis was probably life saving in 8/10 patients, with a good clinical outcome in six. In 2 patients death was caused by enlarging hemorrhagic infarcts

    Preoperative Location Of Parathyroid Adenomas In Primary Hyperparathyroidism: The Role of Cervical Doppler Ultrasound

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    Introduction: Parathyroid adenoma is the most frequent cause of primary hyperparathyroidism. In recent years, the preoperative location of parathyroid adenomas allowed minimally invasive surgical techniques that have become preferred over the traditional bilateral neck exploration. The more recent guidelines on this subject highlight the role of nuclear medicine imaging tests. The aim of this study was to review the current role of Doppler ultrasound (US) in assessing the preoperative location of parathyroid adenomas in patients with primary hyperparathyroidism. Material and methods: Retrospective study based on data from patients with primary hyperparathyroidism that underwent parathyroidectomy between January 2013 and January 2022 at the Centro Hospitalar Universitário Lisboa Central. Statistical analysis was performed with IBM SPSS Statistics, version 26.0.0.0®. Results: Parathyroidectomy was performed in 171 patients (77.8% females) with primary hyperparathyroidism. Cervical Doppler ultrasound was the most performed test (64.3%, n = 110) for preoperative location and detected a suspicious lesion in 98 patients (89.1%). The preoperative location of the parathyroid adenomas was assessed through the Doppler ultrasound and was compared with the surgical reports and histological findings; a correct identification was made in 76 patients (77.6%). Doppler ultrasound slightly underestimated the mean adenoma size (18.1 ± 7.7 mm preoperative versus 22 ± 8.4 mm postoperative). Calcium, parathyroid hormone levels, adenoma size and concomitant presence of thyroid nodules did not affect the accuracy of Doppler ultrasound. Conclusion: Doppler ultrasound showed high diagnostic accuracy even in patients with nodular thyroid disease regardless of calcium and parathyroid hormone levels and adenoma size. Furthermore, its safety, affordability and availability should favor its use as first line test in primary hyperparathyroidism to assess the preoperative location of parathyroid adenomas.info:eu-repo/semantics/publishedVersio

    Global environmental changes: setting priorities for Latin American coastal habitats.

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    The definitive version is available at www.blackwell-synergy.comThe Intergovernmental Panel for Climate Change (IPCC) reports that Global Environmental Changes (GEC) are occurring quicker than at any other time over the last 25 million years and impacting upon marine environments (Bellard et al., 2012). There is overwhelming evidence showing that GEC are affecting both the quality and quantity of the goods and services provided by a wide range of marine ecosystems. In order to discuss regional preparedness for global environmental changes, a workshop was held in Ilhabela, Brazil (22- 26 April 2012) entitled "Evaluating the Sensitivity of Central and South American Benthic Communities to Global Environmental Changes" that drew together scientists from ten Latin American and three European countries. © 2013 Blackwell Publishing Ltd

    Effects of a brief mindfulness-based intervention on emotional regulation and levels of mindfulness in senior students

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    Mindfulness-based interventions have been applied in diverse populations and achieved mental health benefits. This study examined the effects of a brief mindfulness program for emotional regulation and levels of mindfulness on senior students in Brazil. The intervention consisted of six weekly meetings attended by 30 participants. It is a pre-experimental research, with pre- and post-test comparative and correlation measurements. The preliminary results, which relied on parametrical and non-parametrical tests, revealed a reduction in total emotional regulation difficulties (p = 0.0001; r = − 0.55). Also, there was an increase in the levels of mindfulness in the subtests for both dimensions under evaluation: “Awareness” (p = 0.0001; d = 0.77) and “Acceptance” (p = 0.048; d = 0.37). By associating the amount of meditative practices performed by students with the variables, a significant positive correlation was found with the mindfulness dimension “Awareness” (rP = 0.422; p = 0.020), and there was a significant negative correlation with Difficulties in emotion regulation (rS = − 0.478; p = 0.008) and with its respective subscales “Non-acceptance” (rS = − 0.654; p = 0.0001) and “Clarity” (rS = − 0.463; p = 0.010). In conclusion, the application of a brief mindfulness-based intervention is promising in Brazilian university contexts; moreover, it can bring benefits to students, e.g., an increase in emotion regulation as well as in levels of mindfulness. We suggest that further research should use an experimental design and follow-up.info:eu-repo/semantics/publishedVersio

    The Photoreceptor Cell-Specific Nuclear Receptor Gene (PNR ) Accounts for Retinitis Pigmentosa in the Crypto-Jews from Portugal (Marranos), Survivors from the Spanish Inquisition

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    The last Crypto-Jews (Marranos) are the survivors of Spanish Jews who were persecuted in the late fifteenth century, escaped to Portugal and were forced to convert to save their lives. Isolated groups still exist in mountainous areas such as Belmonte in the Beira-Baixa province of Portugal. We report here the genetic study of a highly consanguineous endogamic population of Crypto-Jews of Belmonte affected with autosomal recessive retinitis pigmentosa (RP). A genome-wide search for homozygosity allowed us to localize the disease gene to chromosome 15q22-q24 (Zmax=2.95 at θ=0 at the D15S131 locus). Interestingly, the photoreceptor cell-specific nuclear receptor (PNR) gene, the expression of which is restricted to the outer nuclear layer of retinal photoreceptor cells, was found to map to the YAC contig encompassing the disease locus. A search for mutations allowed us to ascribe the RP of Crypto-Jews of Belmonte to a homozygous missense mutation in the PNR gene. Preliminary haplotype studies support the view that this mutation is relatively ancient but probably occurred after the population settled in Belmonte

    Parkinsonian phenotype in Machado-Joseph disease (MJD/SCA3): a two-case report

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    Background: Machado-Joseph disease (MJD), or spinocerebellar ataxia type 3 (SCA3), is an autosomal dominant neurodegenerative disorder of late onset, which is caused by a CAG repeat expansion in the coding region of the ATXN3 gene. This disease presents clinical heterogeneity, which cannot be completely explained by the size of the repeat tract. MJD presents extrapyramidal motor signs, namely Parkinsonism, more frequently than the other subtypes of autosomal dominant cerebellar ataxias. Although Parkinsonism seems to segregate within MJD families, only a few MJD patients develop parkinsonian features and, therefore, the clinical and genetic aspects of these rare presentations remain poorly investigated. The main goal of this work was to describe two MJD patients displaying the parkinsonian triad (tremor, bradykinesia and rigidity), namely on what concerns genetic variation in Parkinson's disease (PD) associated loci (PARK2, LRRK2, PINK1, DJ-1, SNCA, MAPT, APOE, and mtDNA tRNAGln T4336C). Case presentation: Patient 1 is a 40 year-old female (onset at 30 years of age), initially with a pure parkinsonian phenotype (similar to the phenotype previously reported for her mother). Patient 2 is a 38 year-old male (onset at 33 years of age), presenting an ataxic phenotype with parkinsonian features (not seen either in other affected siblings or in his father). Both patients presented an expanded ATXN3 allele with 72 CAG repeats. No PD mutations were found in the analyzed loci. However, allelic variants previously associated with PD were observed in DJ-1 and APOE genes, for both patients. Conclusions: The present report adds clinical and genetic information on this particular and rare MJD presentation, and raises the hypothesis that DJ-1 and APOE polymorphisms may confer susceptibility to the parkinsonian phenotype in MJD
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