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1.
HNO ; 66(8): 598-604, 2018 Aug.
Artigo em Alemão | MEDLINE | ID: mdl-29947857

RESUMO

BACKGROUND: A submucous cleft palate and a congenitally short velum are diagnosed rather late, because symptoms are often mild. OBJECTIVES: The pre- and postoperative clinical symptoms for both conditions are presented. MATERIALS AND METHODS: The data of 180 patients with a submucous cleft palate (161) or congenitally short velum (19) were retrospective analyzed. In 23.3%, a syndromic association was found. RESULTS: Clinical findings for both conditions included middle ear problems, hypernasal speech, nasal penetration, the absence of the posterior nasal spine of the hard palate and/or a bifid uvula with a zona pellucida. The average age at diagnosis was 4.2 years in submucous clefts and 5.7 years in children with a congenitally short velum. Surgical palatoplasty with fusion of soft palate muscles and/or elongation of the soft palate was performed in 83.9% of the children, aiming to achieve sufficient velopharyngeal closure (VPC) with a significant decrease of symptoms and, hence, better conditions for speech therapy interventions. The overall success rate of the VPC was 63.7% with improvement in up to 2 of the 3 clinical symptoms (hypernasal speech, nasal penetration, middle ear problems). Hypernasal speech was more common (in 89.5%) in children with a congenitally short velum before surgery and in 81.3% 8 weeks after surgery; however, prior to surgery they had a short soft palate. CONCLUSION: Surgical intervention was particularly effective in children younger than 5 years. Syndromic diseases are disproportionately associated with soft palate defects.


Assuntos
Fissura Palatina , Insuficiência Velofaríngea , Criança , Pré-Escolar , Fissura Palatina/complicações , Fissura Palatina/cirurgia , Humanos , Palato Duro , Palato Mole , Estudos Retrospectivos , Resultado do Tratamento , Insuficiência Velofaríngea/cirurgia
3.
West Indian Med J ; 63(3): 262-6, 2014 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-25314285

RESUMO

OBJECTIVES: The study examined the prevalence of stress, burnout, and coping, and the relationship between these variables among emergency physicians at a teaching hospital in Kingston, Jamaica. METHODS: Thirty out of 41 physicians in the Emergency Department completed the Maslach Burnout Inventory, Perceived Stress Scale, Ways of Coping Questionnaire, and a background questionnaire. Descriptive statistical analyses were conducted. RESULTS: Fifty per cent of study participants scored highly on emotional exhaustion; the scores of 53.3% also indicated that they were highly stressed. Stress correlated significantly with the emotional exhaustion and depersonalization components of burnout. Depersonalization was significantly correlated with two coping strategies: escape-avoidance and accepting responsibility; emotional exhaustion was also significantly correlated with escape-avoidance. CONCLUSION: Emergency physicians at the hospital scored high on stress and components of burnout. Interventions aimed at reducing the occupational contributors to stress and improving levels of coping will reduce the risk of burnout and enhance psychological well-being among emergency physicians.

4.
IEEE Trans Med Imaging ; 33(10): 1913-30, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-24876109

RESUMO

Intra-operative imaging techniques for obtaining the shape and morphology of soft-tissue surfaces in vivo are a key enabling technology for advanced surgical systems. Different optical techniques for 3-D surface reconstruction in laparoscopy have been proposed, however, so far no quantitative and comparative validation has been performed. Furthermore, robustness of the methods to clinically important factors like smoke or bleeding has not yet been assessed. To address these issues, we have formed a joint international initiative with the aim of validating different state-of-the-art passive and active reconstruction methods in a comparative manner. In this comprehensive in vitro study, we investigated reconstruction accuracy using different organs with various shape and texture and also tested reconstruction robustness with respect to a number of factors like the pose of the endoscope as well as the amount of blood or smoke present in the scene. The study suggests complementary advantages of the different techniques with respect to accuracy, robustness, point density, hardware complexity and computation time. While reconstruction accuracy under ideal conditions was generally high, robustness is a remaining issue to be addressed. Future work should include sensor fusion and in vivo validation studies in a specific clinical context. To trigger further research in surface reconstruction, stereoscopic data of the study will be made publically available at www.open-CAS.com upon publication of the paper.


Assuntos
Imageamento Tridimensional/métodos , Laparoscopia/métodos , Cirurgia Assistida por Computador/métodos , Animais , Endoscópios , Rim/anatomia & histologia , Rim/cirurgia , Fígado/anatomia & histologia , Fígado/cirurgia , Modelos Biológicos , Reprodutibilidade dos Testes , Suínos
5.
Sci Eng Ethics ; 19(3): 893-911, 2013 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-23197313

RESUMO

The ability to design technological solutions that address sustainability is considered pivotal to the future of the planet and its people. As technology professionals engineers are expected to play an important role in sustaining society. The present article aims at exploring sustainability concepts of newly enrolled engineering students in Denmark. Their understandings of sustainability and the role they ascribe to sustainability in their future professional practice is investigated by means of a critical discourse analysis including metaphor analysis and semiotic analysis. The sustainability construal is considered to delimit possible ways of dealing with the concept in practice along the engineering education pathway and in professional problem solving. Five different metaphors used by the engineering students to illustrate sustainability are identified, and their different connotative and interpretive implications are discussed. It is found that sustainability represents a dilemma to the engineering students that situates them in a tension between their technology fascination and the blame they find that technological progress bears. Their sustainability descriptions are collected as part of a survey containing among other questions one open-ended, qualitative question on sustainability. The survey covers an entire year group of Danish engineering students in the first month of their degree study.


Assuntos
Compreensão , Conservação dos Recursos Naturais , Engenharia/ética , Metáfora , Resolução de Problemas/ética , Responsabilidade Social , Tecnologia/ética , Coleta de Dados , Dinamarca , Engenharia/educação , Humanos , Inquéritos e Questionários
6.
7.
Laryngorhinootologie ; 91(2): 84-95, 2012 Feb.
Artigo em Alemão | MEDLINE | ID: mdl-21989583

RESUMO

Orofacial clefts are one of the most common birth defects in humans with a prevalence of 1:700. Nonsyndromic cleft lip with or without cleft palate or isolated cleft palate show an incomplete separation of the oral cavity and the nasal space without any additional malformations. Beside complete cleft palate also submucous celft palates exist that are hidden below the intact mucosa. The aetiology of celfts is a complex interaction between environmental and genetic factors. Orofacial clefts cause many complications like feeding, speech and hearing problems needing a team of head and neck surgeons, oral and maxillofacial surgeons, phoniatricians and speech therapist for treatment. Often a genetic counselling is made for estimating the risk for the relatives.


Assuntos
Fenda Labial/diagnóstico , Fissura Palatina/diagnóstico , Fenda Labial/complicações , Fenda Labial/epidemiologia , Fenda Labial/genética , Fissura Palatina/complicações , Fissura Palatina/epidemiologia , Fissura Palatina/genética , Terapia Combinada , Interação Gene-Ambiente , Aconselhamento Genético , Humanos , Lactente , Recém-Nascido , Equipe de Assistência ao Paciente , Síndrome
9.
Int J Pediatr Otorhinolaryngol ; 75(1): 85-8, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21112097

RESUMO

OBJECTIVES: To investigate age of diagnosis, typical symptoms, finding of the palate, therapy options and accompanying diseases. METHODS: A retrospective analysis of 439 patients with symptomatic submucous cleft palate (SMCP), who received a veloplasty operation (butterfly suture technique developed by Haase) was made. RESULTS: SMCP was initially diagnosed at the mean age of 4.9 years. Main symptoms were hyper nasal speech (51%) and conductive hearing loss (45%), which resolved after veloplasty (often in combination with adenotomy and insertion of ventilation tubes). Typical findings of the palate were a lack of posterior nasal spine (68%) and bifid uvula (59%). Following surgery 17.1% required speech therapy and 5.5% needed velopharyngoplasty due to continuing hyper nasal speech. CONCLUSION: SMCP is often diagnosed very late, though symptoms of velopharyngeal insufficiency (hyper nasal speech, Eustachian tube dysfunction) and bifid uvula are present. We therefore recommend that all patients with such findings are examined by an appropriate specialist such as Phoniatrics, Otolaryngologist and Oral-Maxillofacial-Surgeon so that early diagnosis and palatoplasty can be performed. The veloplasty operation (butterfly suture technique) can be recommended as a safe therapy for velopharyngeal insufficiency for patients with symptomatic SMCP.


Assuntos
Fissura Palatina/diagnóstico , Fissura Palatina/cirurgia , Insuficiência Velofaríngea/terapia , Criança , Pré-Escolar , Estudos de Coortes , Feminino , Seguimentos , Humanos , Lactente , Laringoplastia/efeitos adversos , Laringoplastia/métodos , Masculino , Mucosa/patologia , Mucosa/cirurgia , Procedimentos Cirúrgicos Otorrinolaringológicos/efeitos adversos , Procedimentos Cirúrgicos Otorrinolaringológicos/métodos , Palato Mole/anormalidades , Palato Mole/cirurgia , Complicações Pós-Operatórias/fisiopatologia , Complicações Pós-Operatórias/cirurgia , Recuperação de Função Fisiológica , Reoperação , Estudos Retrospectivos , Fonoterapia/métodos , Técnicas de Sutura , Resultado do Tratamento , Insuficiência Velofaríngea/diagnóstico , Insuficiência Velofaríngea/etiologia
10.
Leukemia ; 24(11): 1875-84, 2010 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-20739954

RESUMO

Using ProteinChip array technology, which is based on the surface-enhanced laser desorption/ionization time-of-flight mass spectrometry, we performed proteomic analyses on sera from myelodysplastic syndromes (MDSs) patients with an interstitial deletion of the long arm of chromosome 5 (del(5q)) and those from control individuals. One analysis with 80 samples from 29 patients and 51 control subjects resulted in the detection of 61 peak differences. Another analysis with 36 paired-samples from 18 patients collected before and after the treatment with lenalidomide (Revlimid) identified 19 differential peak features. We also observed differential profiles between the pre-treatment samples from the responders and those from the non-responders reflected by eight peak differences. On the basis of these data we developed two classification models that could distinguish between the diseased and the control subjects or between the responders and the non-responders. Efforts were made to purify and identify a range of differential peak proteins. We conclude that inter-α trypsin inhibitor, heavy chain H4 (fragments), serum transferrin, transthyretin (variants), haemoglobin and a protein peak at m/z 2791 could be potential disease-associated markers for del(5q) MDS. Platelet factor 4 (PF-4) and a peak at m/z 8559 may serve as therapy-associated markers and be potentially useful for monitoring and predicting the response to therapy.


Assuntos
Antineoplásicos/uso terapêutico , Cromossomos Humanos Par 5/genética , Síndromes Mielodisplásicas/genética , Proteoma/metabolismo , Talidomida/análogos & derivados , Adulto , Idoso , Feminino , Humanos , Lenalidomida , Masculino , Megacariócitos/patologia , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/sangue , Síndromes Mielodisplásicas/tratamento farmacológico , Análise Serial de Proteínas , Proteoma/efeitos dos fármacos , Deleção de Sequência , Talidomida/uso terapêutico , Falha de Tratamento , Resultado do Tratamento
12.
Laryngorhinootologie ; 89(1): 29-33, 2010 Jan.
Artigo em Alemão | MEDLINE | ID: mdl-19644792

RESUMO

BACKGROUND: Submucous cleft palate (SMCP) is often diagnosed very late and can cause velopharyngeal insufficiency with open nasal speech and Eustachian tube dysfunction. METHODS: A retrospective analysis of 106 patients (100 children, 6 adults) who had been surgically treated for SMCP was made. Age of diagnosis, physician who initially diagnosed the SMCP, typical symptoms for cleft palate, clinical examination of the palate, therapy options and accompanying diseases were evaluated. RESULTS: SMCP was diagnosed in 79 cases by a specialist for Phoniatrics/ENT surgery of the University and in 21 cases by a physician, who does not work at hospital at the age of 4.9 years. Main symptoms were Eustachian tube dysfunctions (61.3%) and hypernasal speech (48.1%). Typical findings of the palate were: reduced contraction (69.8%), lack of posterior nasal spine (55.7%) and bifid uvula (51.9%). In 18 patients a dysmorphic syndrome was observed and in 83% a conductive hearing loss which resolved after palatoplasty (often in combination with adenotomy and insertion of ventilation tubes). Following surgery 18 patients required speech therapy and of these 6 needed velopharyngoplasty due to continuing open nasal speech. CONCLUSIONS: SMCP is often diagnosed very late, though symptoms of velopharyngeal insufficiency such as open nasal speech, Eustachian tube dysfunction and reduced contraction of the palate with bifid uvula are present. It is also often found in children with craniofacial dysmorphic syndromes. We therefore recommend that all patients with such findings are examined by an appropriate specialist such as Phoniatrics, ENT-Surgeon and Oral-Maxillofacial Surgeon so that early diagnosis and palatoplasty can be performed.


Assuntos
Fissura Palatina/diagnóstico , Adenoidectomia , Adolescente , Adulto , Criança , Pré-Escolar , Fissura Palatina/cirurgia , Terapia Combinada , Comportamento Cooperativo , Anormalidades Craniofaciais/diagnóstico , Anormalidades Craniofaciais/cirurgia , Feminino , Humanos , Comunicação Interdisciplinar , Masculino , Equipe de Assistência ao Paciente , Complicações Pós-Operatórias/etiologia , Complicações Pós-Operatórias/cirurgia , Reoperação , Distúrbios da Fala/etiologia , Distúrbios da Fala/cirurgia , Insuficiência Velofaríngea/etiologia , Insuficiência Velofaríngea/cirurgia , Adulto Jovem
13.
Am J Transplant ; 9(8): 1742-51, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19563340

RESUMO

The frequency of delayed function of kidney transplants varies greatly and is associated with quality of graft, donor age and the duration of cold ischemia time. Furthermore, body weight differences between donor and recipient can affect primary graft function, but the underlying mechanism is poorly understood. We transplanted kidney grafts from commensurate body weight (L-WD) or reduced body weight (H-WD) donor rats into syngeneic or allogeneic recipients. Twenty-four hours posttransplantation, serum creatinine levels in H-WD recipients were significantly higher compared to L-WD recipients indicating impaired primary graft function. This was accompanied by upregulation of IL-6 transcription and increased tubular destruction in grafts from H-WD recipients. Using DNA microarray analysis, we detected decreased expression of genes associated with kidney function and an upregulation of other genes such as Cyp3a13, FosL and Trib3. A single application of IL-6 into L-WD recipients is sufficient to impair primary graft function and cause tubular damage, whereas immediate neutralization of IL-6 receptor signaling in H-WD recipients rescued primary graft function with well-preserved kidney graft architecture and a normalized gene expression profile. These findings have strong clinical implication as anti-IL6R treatment of patients receiving grafts from lower-weight donors could be used to improve primary graft function.


Assuntos
Peso Corporal/fisiologia , Interleucina-6/fisiologia , Transplante de Rim/fisiologia , Transdução de Sinais/fisiologia , Animais , Apoptose/fisiologia , Creatinina/sangue , Heme Oxigenase-1/metabolismo , Proteínas Quinases JNK Ativadas por Mitógeno/metabolismo , Transplante de Rim/patologia , Túbulos Renais/patologia , Masculino , Modelos Animais , Ratos , Ratos Endogâmicos Lew , Ratos Endogâmicos
14.
J Environ Qual ; 37(3): 1254-62, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-18453445

RESUMO

Elevated atmospheric CO2 treatments stimulated biomass production in Fe-sufficient and Fe-deficient barley plants, both in hydroponics and in soil culture. Root/shoot biomass ratio was increased in severely Fe-deficient plants grown in hydroponics but not under moderate Fe limitation in soil culture. Significantly increased biomass production in high CO2 treatments, even under severe Fe deficiency in hydroponic culture, indicates an improved internal Fe utilization. Iron deficiency-induced secretion of PS in 0.5 to 2.5 cm sub-apical root zones was increased by 74% in response to elevated CO2 treatments of barley plants in hydroponics but no PS were detectable in root exudates collected from soil-grown plants. This may be attributed to suppression of PS release by internal Fe concentrations above the critical level for Fe deficiency, determined at final harvest for soil-grown barley plants, even without additional Fe supply. However, extremely low concentrations of easily plant-available Fe in the investigated soil and low Fe seed reserves suggest a contribution of PS-mediated Fe mobilization from sparingly soluble Fe sources to Fe acquisition of the soil-grown barley plants during the preceding culture period. Higher Fe contents in shoots (+52%) of plants grown in soil culture without Fe supply under elevated atmospheric CO2 concentrations may indicate an increased efficiency for Fe acquisition. No significant influence on diversity and function of rhizosphere-bacterial communities was detectable in the outer rhizosphere soil (0-3 mm distance from the root surface) by DGGE of 16S rRNA gene fragments and analysis of marker enzyme activities for C-, N-, and P-cycles.


Assuntos
Atmosfera , Dióxido de Carbono/análise , Hordeum/metabolismo , Ferro/metabolismo , Clorofila/metabolismo , Eletroforese em Gel de Poliacrilamida , Hordeum/crescimento & desenvolvimento , Raízes de Plantas/metabolismo , Reação em Cadeia da Polimerase , RNA Ribossômico 16S/genética , Sideróforos/metabolismo , Microbiologia do Solo
15.
Laryngorhinootologie ; 86(9): 666-72; quiz 673-4, 2007 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-17717795

RESUMO

Adenoidectomy and tonsillectomy are the most frequently recommended childhood ENT operations. Although current standards of practice are high, note still needs to be taken of indications, especially in patients with palatal anomalies. These are not always easily estimated or recognised. The origin and therapy of velopharyngeal insufficiency are of particular importance.


Assuntos
Adenoidectomia , Distúrbios da Fala , Tonsilectomia , Insuficiência Velofaríngea , Adolescente , Fatores Etários , Criança , Pré-Escolar , Fissura Palatina/complicações , Fissura Palatina/epidemiologia , Humanos , Lactente , Prevalência , Fatores de Risco , Distúrbios da Fala/diagnóstico , Distúrbios da Fala/etiologia , Retalhos Cirúrgicos , Insuficiência Velofaríngea/complicações , Insuficiência Velofaríngea/diagnóstico , Insuficiência Velofaríngea/cirurgia
16.
J Microsc ; 219(Pt 2): 43-9, 2005 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-16159339

RESUMO

Summary We have developed a three-dimensional (3D) wavelet-based filter for visualizing structural features in volumetric data. The only variable parameter is a characteristic linear size of the feature of interest. The filtered output contains only those regions that are correlated with the characteristic size, thus de-noising the image. We demonstrate the use of the filter by applying it to 3D data from a variety of electron microscopy samples, including low-contrast vitreous ice cryogenic preparations, as well as 3D optical microscopy specimens.


Assuntos
Microscopia/métodos , Animais , Centríolos/ultraestrutura , Microscopia Crioeletrônica/métodos , Células Eucarióticas/ultraestrutura , Filtração , Matemática , Microtúbulos/ultraestrutura , Tomografia/métodos , Tubulina (Proteína)/ultraestrutura
17.
Med Biol Eng Comput ; 43(2): 283-9, 2005 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15865140

RESUMO

A comparison of auditory and visual perception of scatterplots showed similar correlation estimation performance in both modalities. The present study replicated this experiment using electrotactile (electrocutaneous) presentation of scatterplots on the fingertips and abdomen, as well as visual presentation. The correlation estimation task resulted in a slightly poorer performance on electrotactile scatterplots (abdomen r = +0.847; fingertip r = +0.723) compared with the previous Flowers auditory displays (r = +0.91). There were similar levels of performance in the visual (control) condition in both the studies (r for both approx. +0.91). The performance in the correlation estimation task was similar across the two electrotactile displays, with perhaps a slight, but not significant (p = 0.077), advantage for the abdominal array. However, a preliminary digit identification task on both displays produced a better performance on the fingertip display (p < 0.05), suggesting that the relative performance of the two displays may be task specific. The present results demonstrate electrotactile perception of complex graphs and provide useful information for improving future versions of tactile displays.


Assuntos
Cegueira/reabilitação , Auxiliares Sensoriais , Tato , Interface Usuário-Computador , Abdome , Adulto , Estimulação Elétrica/instrumentação , Estimulação Elétrica/métodos , Feminino , Dedos , Humanos , Masculino , Psicofísica
18.
Acta Haematol ; 113(2): 146-9, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-15802895

RESUMO

Autoimmune diseases occurring concurrently with myelodysplastic syndrome (MDS) with deletion del(5q) including band q31 are very rare and have only been reported twice in the medical literature. We present two additional cases, one patient with del(5q) and trisomy 21 who suffered from rheumatoid arthritis and one patient with isolated del(5q) and autoimmune hemolytic anemia. Both patients had mild leukopenia and severe transfusion-dependent anemia. The rheumatoid arthritis was treated with antirheumatics without additional immunosuppressive medication. Autoimmune hemolytic anemia was controlled with long-term steroid administration. This patient developed additional trisomy 21, 2 years after the initial diagnosis of del(5q). Contrary to previous reports on autoimmune disorders in MDS mentioning improvements of hematological function in response to steroid administration, neither of our patients had a hematological improvement under corticosteroids.


Assuntos
Anemia Hemolítica Autoimune/complicações , Artrite Reumatoide/complicações , Deleção Cromossômica , Cromossomos Humanos Par 5 , Síndromes Mielodisplásicas/complicações , Corticosteroides/uso terapêutico , Anemia Hemolítica Autoimune/tratamento farmacológico , Antirreumáticos/uso terapêutico , Artrite Reumatoide/tratamento farmacológico , Humanos , Leucopenia/tratamento farmacológico , Leucopenia/etiologia , Masculino , Pessoa de Meia-Idade , Síndromes Mielodisplásicas/tratamento farmacológico , Síndromes Mielodisplásicas/genética , Indução de Remissão , Trissomia
19.
Conf Proc IEEE Eng Med Biol Soc ; 2005: 7040-3, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-17281896

RESUMO

Trabecular bone structure and bone density contribute to the strength of bone and are important in the study of osteoporosis. Wavelets are a powerful tool to characterize and quantify texture in an image. In this study the thickness of trabecular bone was analyzed in 8 cylindrical cores of the vertebral spine. Images were obtained from 3 Tesla (T) magnetic resonance imaging (MRI) and micro-computed tomography (μCT). Results from the wavelet based analysis of trabecular bone were compared with standard two-dimensional (2D) structural parameters (analogous to bone histomorphometry) obtained using mean intercept length (MR images) and direct three-dimensional (3D) distance transformation methods (μCT images). Additionally, the bone volume fraction was determined from MR images. We conclude that the wavelet based analyses delivers comparable results to the established MR histomorphometric measurements. The average deviation in trabecular thickness was less than one pixel size between the wavelet and the standard approach for both MR and μCT analysis. Since the wavelet based method is less sensitive to image noise, we see an advantage of wavelet analysis of trabecular bone for MR imaging when going to higher resolution.

20.
Eur J Gynaecol Oncol ; 26(6): 589-98, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16398215

RESUMO

PURPOSE OF INVESTIGATION: Regulatory elements of the 5'-flanking region of the DNA-repair gene Rad51 were analysed to characterise pathological alterations of Rad51 mRNA expression during tumour development. METHODS: Various fragments of the Rad51 promoter were cloned into the pGL3 reporter vector and the respective promoter activity was determined by luciferase assays in transfected U2-OS cells. Transcription factor binding was identified using Protein/DNA arrays. RESULTS: The region encompassing base pairs -204 to -58 was identified as crucial for Rad51 gene transcription. Down regulator sequences are present upstream (-305 to -204) and downstream (-48 and +204) of this core promoter element. Promoter activity is significantly enhanced by substituting G at the polymorphic positions +135 and +172 for C and T, respectively. Transcription factors Ets1/PEA3, E2F1, p53, EGR1, and Stat5 were identified as relevant for regulating expression of Rad51. CONCLUSION: We identified three separate cis-sequence elements within the Rad51 transcriptional promoter, one ensuring basal levels of expression and two elements limiting expression to relatively low levels. The characterisation of transcription factor binding might help to explain high-level expression of Rad51 in a variety of solid tumours. The polymorphic sites appear important for the increased risk of breast and/or ovarian cancer for BRCA2 mutation carriers.


Assuntos
Regulação Neoplásica da Expressão Gênica , Neoplasias dos Genitais Femininos/genética , Regiões Promotoras Genéticas , Rad51 Recombinase/genética , Transcrição Gênica , Região 5'-Flanqueadora , Sequência de Bases , Reparo do DNA , Fatores de Transcrição E2F , Feminino , Humanos , Dados de Sequência Molecular , Polimorfismo de Nucleotídeo Único , RNA Mensageiro/genética , RNA Mensageiro/metabolismo
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