150 research outputs found
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology
Introduction Hereditary leiomyomatosis and renal cell cancer (HLRCC) constitute a tumor susceptibility syndrome caused by germline mutations in the fumarate hydratase (FH) gene. The most common features are leiomyomas of the uterus and the skin. The syndrome includes a predisposition to early-onset, aggressive renal cell cancer. It is important to identify women with HLRCC among other uterine leiomyoma patients in order to direct them to genetic counseling and to identify other affected family members. Material and methods We conducted a nationwide historical study to identify typical clinical characteristics, uterine leiomyoma morphology, and immunohistochemistry for diagnosing HLRCC. The study included 20 women with a known FH germline mutation and 77 women with sporadic uterine leiomyomas. The patient records of all women were reviewed to obtain clinical details regarding their leiomyomas. Uterine leiomyoma tissue specimens from 43 HLRCC-related leiomyomas and 42 sporadic leiomyomas were collected and prepared for histology analysis. A morphologic description was performed on hematoxylin & eosin-stained tissue slides, and immunohistochemical analysis was carried out for CD34, Bcl-2, and p53 stainings. Results The women with HLRCC were diagnosed with uterine leiomyomas at a young age compared with the sporadic leiomyoma group (mean 33.8 years vs. 45.4 years, P < 0.0001), and their leiomyomas occurred as multiples compared with the sporadic leiomyoma group (more than four tumors 88.9% vs. 30.8%, P < 0.0001). Congruently, these women underwent surgical treatment at younger age compared with the sporadic leiomyoma group (mean 37.3 years vs. 48.3 years, P < 0.0001). HLRCC leiomyomas had denser microvasculature highlighted by CD34 immunostaining when compared with the sporadic leiomyoma group (112.6 mean count/high-power field, SD 20.8 vs. 37.4 mean count/high-power field, SD 21.0 P < 0.0001) and stronger anti-apoptotic protein Bcl-2 immunostaining when compared with the sporadic leiomyoma group (weak 4.7%, moderate 44.2%, strong 51.2% vs. 26.2%, 52.4%, 21.4%, respectively, P = 0.003). No differences were observed in p53 staining. Conclusions Women with HLRCC may be identified through the distinct clinical characteristics: symptomatic and numerous leioymyomas at young age, and morphologic features of FH-mutant leiomyomas, aided by Bcl-2 and CD34 immunohistochemistry. Further, distinguishing individuals with a germline FH mutation enables proper genetic counseling and regular renal monitoring.Peer reviewe
Proximity Induced Josephson-Quasiparticle Process in a Single Electron Transistor
We have performed the first experiments in a superconductor - normal metal -
superconductor single electron transistor in which there is an extra
superconducting strip partially overlapping the normal metal island in good
metal-to-metal contact. Superconducting proximity effect gives rise to current
peaks at voltages below the quasiparticle threshold. We interpret these peaks
in terms of the Josephson-quasiparticle process and discuss their connection
with the proximity induced energy gap in the normal metal island.Comment: 4 pages + 4 figure
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Multiple-instrument polyphonic music transcription using a temporally constrained shift-invariant model
A method for automatic transcription of polyphonic music is proposed in this work that models the temporal evolution of musical tones. The model extends the shift-invariant probabilistic latent component analysis method by supporting the use of spectral templates that correspond to sound states such as attack, sustain, and decay. The order of these templates is controlled using hidden Markov model-based temporal constraints. In addition, the model can exploit multiple templates per pitch and instrument source. The shift-invariant aspect of the model makes it suitable for music signals that exhibit frequency modulations or tuning changes. Pitch-wise hidden Markov models are also utilized in a postprocessing step for note tracking. For training, sound state templates were extracted for various orchestral instruments using isolated note samples. The proposed transcription system was tested on multiple-instrument recordings from various datasets. Experimental results show that the proposed model is superior to a non-temporally constrained model and also outperforms various state-of-the-art transcription systems for the same experiment
Social and ethical criteria for prioritizing patients: a survey of students and health professionals in Portugal
O estudo quali-quantitativo explora
o dilema ético da microalocação dos recursos da
saúde. Objetiva identificar e comparar a opinião
de dois grupos da sociedade portuguesa - estudantes
e profissionais de saúde sobre a importância
das características pessoais dos pacientes no momento
de os priorizar e se as escolhas se explicam
por referenciais bioéticos de caráter utilitaristas ou
deontológicos. Os dados foram recolhidos através
de um questionário aplicado a uma amostra de
180 estudantes universitários e 60 profissionais de
saúde. Os respondentes perante hipotéticos cená-
rios de emergência clínica tiveram de escolher de
entre dois pacientes (distinguidos por idade, sexo,
responsabilidade social, situação económica e laboral,
comportamentos lesivos da saúde e registo
criminal) quem tratar e justificar a escolha. Foram
usados testes estatísticos de associação para
comparar as respostas dos dois grupos e análise
de conteúdo para categorizar as justificações. Os
resultados sugerem a existência de diferenças nas
escolhas dos dois grupos, com os profissionais de
saúde a revelarem aceitar menos a utilização de
critérios sociais em contexto de escassez e coexistência
de critérios utilitaristas e deontológicos,
com predomínio da eficiência por parte dos profissionais
de saúde e da equidade por parte dos
estudantesThis qualitative/quantitative study examines
the ethical dilemma of microallocation of
health resources. It seeks to identify and compare
the opinion of two groups in Portuguese society
– students and health professionals – on the importance
of personal characteristics of patients at
the moment of prioritizing them and if the choices
can be explained by bioethical references of a
utilitarian or deontological nature. Data were
collected by means of a questionnaire administered
to a sample of 180 students and 60 health
professionals. Faced with hypothetical emergency
scenarios, the respondents had to choose between
two patients (distinguished by: age, gender, social
responsibility, economic and employment
situation, harmful health behaviors and criminal
record), duly selecting who to treat and then
justifying their choice. The results suggest the existence
of differences in choices between the two
groups, with health professionals revealing they
are less prepared to accept the use of social criteria
in a context of scarce resources and co-existence
of utilitarian and deontological criteria, with a
predominance of efficiency on the part of health
professionals and equity on the part of students.info:eu-repo/semantics/publishedVersio
Uterine leiomyomas in hereditary leiomyomatosis and renal cell cancer (HLRCC) syndrome can be identified through distinct clinical characteristics and typical morphology
Introduction Hereditary leiomyomatosis and renal cell cancer (HLRCC) constitute a tumor susceptibility syndrome caused by germline mutations in the fumarate hydratase (FH) gene. The most common features are leiomyomas of the uterus and the skin. The syndrome includes a predisposition to early-onset, aggressive renal cell cancer. It is important to identify women with HLRCC among other uterine leiomyoma patients in order to direct them to genetic counseling and to identify other affected family members. Material and methods We conducted a nationwide historical study to identify typical clinical characteristics, uterine leiomyoma morphology, and immunohistochemistry for diagnosing HLRCC. The study included 20 women with a known FH germline mutation and 77 women with sporadic uterine leiomyomas. The patient records of all women were reviewed to obtain clinical details regarding their leiomyomas. Uterine leiomyoma tissue specimens from 43 HLRCC-related leiomyomas and 42 sporadic leiomyomas were collected and prepared for histology analysis. A morphologic description was performed on hematoxylin & eosin-stained tissue slides, and immunohistochemical analysis was carried out for CD34, Bcl-2, and p53 stainings. Results The women with HLRCC were diagnosed with uterine leiomyomas at a young age compared with the sporadic leiomyoma group (mean 33.8 years vs. 45.4 years, P < 0.0001), and their leiomyomas occurred as multiples compared with the sporadic leiomyoma group (more than four tumors 88.9% vs. 30.8%, P < 0.0001). Congruently, these women underwent surgical treatment at younger age compared with the sporadic leiomyoma group (mean 37.3 years vs. 48.3 years, P < 0.0001). HLRCC leiomyomas had denser microvasculature highlighted by CD34 immunostaining when compared with the sporadic leiomyoma group (112.6 mean count/high-power field, SD 20.8 vs. 37.4 mean count/high-power field, SD 21.0 P < 0.0001) and stronger anti-apoptotic protein Bcl-2 immunostaining when compared with the sporadic leiomyoma group (weak 4.7%, moderate 44.2%, strong 51.2% vs. 26.2%, 52.4%, 21.4%, respectively, P = 0.003). No differences were observed in p53 staining. Conclusions Women with HLRCC may be identified through the distinct clinical characteristics: symptomatic and numerous leioymyomas at young age, and morphologic features of FH-mutant leiomyomas, aided by Bcl-2 and CD34 immunohistochemistry. Further, distinguishing individuals with a germline FH mutation enables proper genetic counseling and regular renal monitoring
Search for intracranial aneurysm susceptibility gene(s) using Finnish families
BACKGROUND: Cerebrovascular disease is the third leading cause of death in the United States, and about one-fourth of cerebrovascular deaths are attributed to ruptured intracranial aneurysms (IA). Epidemiological evidence suggests that IAs cluster in families, and are therefore probably genetic. Identification of individuals at risk for developing IAs by genetic tests will allow concentration of diagnostic imaging on high-risk individuals. We used model-free linkage analysis based on allele sharing with a two-stage design for a genome-wide scan to identify chromosomal regions that may harbor IA loci. METHODS: We previously estimated sibling relative risk in the Finnish population at between 9 and 16, and proceeded with a genome-wide scan for loci predisposing to IA. In 85 Finnish families with two or more affected members, 48 affected sibling pairs (ASPs) were available for our genetic study. Power calculations indicated that 48 ASPs were adequate to identify chromosomal regions likely to harbor predisposing genes and that a liberal stage I lod score threshold of 0.8 provided a reasonable balance between detection of false positive regions and failure to detect real loci with moderate effect. RESULTS: Seven chromosomal regions exceeded the stage I lod score threshold of 0.8 and five exceeded 1.0. The most significant region, on chromosome 19q, had a maximum multipoint lod score (MLS) of 2.6. CONCLUSIONS: Our study provides evidence for the locations of genes predisposing to IA. Further studies are necessary to elucidate the genes and their role in the pathophysiology of IA, and to design genetic tests
Uso de medicamentos como fator de risco para fratura grave decorrente de queda em idosos
Physical, microscopic and chemical characterisation of industrial rye and wheat brans from the Nordic countries
Restitution and genetic differentiation of salmon populations in the southern Baltic genotyped with the Atlantic salmon 7K SNP array
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