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1.
J Small Anim Pract ; 62(6): 455-461, 2021 06.
Artigo em Inglês | MEDLINE | ID: mdl-33533484

RESUMO

OBJECTIVES: To detect the incidence of clinically important thoracic and abdominal imaging abnormalities in patients with neurological signs but with no clinical signs or laboratory findings consistent with thoracic or abdominal disease. MATERIALS AND METHODS: Review of imaging findings in dogs with neurological signs but no thoracic or abdominal signs that underwent thoracic, or thoracic and abdominal screening during the same hospitalisation as the neurological investigation. RESULTS: Two hundred and six dogs were included in the thoracic study. Of those, only eight (3.9%) had clinically important findings and in only five cases (2.4%) were the findings related to pathology identified on MRI. One hundred and forty-seven dogs were included in the abdominal study. Abnormalities were found in 23 dogs (15.6%), but in only eight (5.4%) were they considered to be of current clinical importance and in only three (2%) were they related to the pathology identified on MRI. Ultrasonography provided valuable additional information in 22 cases (15%) but this was only considered important in four (2.7%) and related to the neurological condition in one (0.7%). As expected, abdominal ultrasonography often provided more information than radiography alone in the abdominal screening but this was rarely clinically relevant or related to the reason for referral. CLINICAL SIGNIFICANCE: Thoracic and abdominal screening of neurological patients with no clinically evident thoracic or abdominal clinical signs only infrequently identified occult but clinically important pathology which changed the current management plan, regardless of neurolocalisation or age.


Assuntos
Doenças do Cão , Abdome/diagnóstico por imagem , Animais , Doenças do Cão/diagnóstico por imagem , Doenças do Cão/epidemiologia , Cães , Imageamento por Ressonância Magnética/veterinária , Estudos Retrospectivos , Ultrassonografia/veterinária
2.
J Small Anim Pract ; 60(4): 231-238, 2019 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-30488445

RESUMO

OBJECTIVE: To describe the MRI characteristics of normal palatine tonsils in dogs. MATERIALS AND METHODS: Retrospective study of 95 dogs with presumed normal tonsils. Tonsillar margination, shape and signal intensity in pre- and postcontrast studies were assessed and the cross-sectional area was measured at the point of maximal size on transverse images. RESULTS: In all cases the tonsils were located with their largest transverse cross-section at the level of the temporomandibular joints. Their margins were well-defined in all dogs; in 57 (60%) the borders were smooth and in 38 (40%) slightly irregular. The majority (96%) of the tonsils were rounded to oval in cross-section and the remainder were elongated. All tonsils were hyperintense to the medial pterygoid muscles in T1-weighted, T2-weighted, FLAIR and T2* gradient echo images and they showed either homogeneous (53%) or heterogeneous (47%) signal intensity. Contrast enhancement was marked (65%) or moderate (33%) in the majority of animals. Median tonsillar cross-sectional area was approximately 29 mm2 (90% confidence interval: 10.0 to 64.4 mm2 ). There was significant positive correlation between bodyweight and tonsillar cross-sectional area and a weak negative correlation between age and tonsillar cross-sectional area. CLINICAL SIGNIFICANCE: MRI is of value in assessing normal palatine tonsils in dogs. This study could be used as a baseline for the investigation of the value of MRI in assessment of tonsillar disease in dogs.


Assuntos
Imageamento por Ressonância Magnética , Tonsila Palatina , Animais , Cães , Estudos Retrospectivos
3.
Vet Rec ; 167(12): 438-42, 2010 Sep 18.
Artigo em Inglês | MEDLINE | ID: mdl-20852246

RESUMO

The aims of this study were to evaluate six portable blood glucose meters for use in cats in a clinical setting and to identify potential sources of inaccuracy such as the effect of glucose concentration and haematocrit. Excess fluorinated whole-blood samples were obtained and were tested using the six meters and a reference laboratory method. Bland-Altman plots were constructed and an error grid analysis was performed, using a grid adapted in this study for diabetic cats. Error grids are a clinically oriented non-parametric approach to blood glucose data, and are designed to determine whether differences between glucometer and laboratory readings are clinically significant. All the meters studied had the potential to under- or overestimate blood glucose levels to varying degrees throughout the glycaemic range. This variation was not consistent enough to be predictable and correctable. The study failed to demonstrate any link between haematocrit and difference between laboratory and glucometer readings.


Assuntos
Análise Química do Sangue/veterinária , Glicemia/análise , Gatos/sangue , Animais , Análise Química do Sangue/instrumentação , Doenças do Gato/diagnóstico , Doenças do Gato/terapia , Diabetes Mellitus/diagnóstico , Diabetes Mellitus/terapia , Diabetes Mellitus/veterinária , Hematócrito/veterinária , Reprodutibilidade dos Testes , Reino Unido
4.
Schweiz Arch Tierheilkd ; 152(3): 135-40, 2010 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-20235015

RESUMO

Three international panels have been established over the past 11 years to provide veterinarians with guidelines on the use of feline vaccines. These are the American Association of Feline Practitioners (AAFP) Feline Vaccine Advisory Panel, the World Small Animal Association Vaccine Guidelines Group (WSAVA VGG) and the European Advisory Board on Cat Diseases (ABCD). The major recommendations of these three panels are summarised to show areas of agreement and areas of discrepancy. While the recommendations of the three groups are not fully aligned, all agree that core vaccines (those that every cat should receive) include panleucopenia virus (FPV), calicivirus (FCV) and herpesvirus (FHV-1) (with the addition of rabies virus where it is endemic or mandated by law). All the panels also recommend booster vaccination for the three core vaccines at intervals of more than one year in many situations (up to every three years for FCV and FHV-1 after the first booster, and at intervals no more frequently than every three years for FPV after the first booster), in view of the studies evaluating the duration of immunity for these vaccines. Precise recommendations vary though, and further studies are needed to provide additional information to clarify areas of discrepancy and further refine recommendations for the future. Ultimately the aim should be to vaccinate cats less frequently (based on a knowledge of the true duration of immunity conferred by vaccination), but to vaccinate more cats (and ideally every cat).


Assuntos
Gatos/imunologia , Imunoterapia Ativa/veterinária , Animais , Gatos/crescimento & desenvolvimento , Imunização Secundária/métodos , Imunização Secundária/veterinária , Imunoterapia Ativa/métodos , Vacina Antirrábica/uso terapêutico , Medicina Veterinária/tendências
5.
Med Humanit ; 35(1): 27-34, 2009 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-23674629

RESUMO

This paper considers the scope of poetic representation for exploring notions of health and wellbeing in the testimony of Holocaust survivors. The paper is based on the representation, through poetic form, of testimony derived from multiple in-depth interviews with a Holocaust survivor, Anka, in south-east Wales. This paper concentrates on two of those interviews, the first a life story and the second an interview focusing on health, illness and wellbeing. Two poetic representations, one derived from each interview, provide examples of the principal investigator's response to the oral testimony, and the authors explore how these forms can present authentic and rigorous data distillates without detracting from the emotive, contextualised and powerful messages of the original text. The poetic representations offer an analysis of the survivor's life experiences, especially in Auschwitz concentration camp, and her personal perspective on her health and wellbeing. The authors discuss the value of poetic representation as a methodological approach, consider the poetic form for working with survivor stories and suggest how others might judge these pieces, to highlight the strengths and weaknesses of these alternative forms of data representation. They also consider the role of the researcher and Anka in creating the final product and the effect of Anka's voice on the researchers' work.

6.
J Small Anim Pract ; 49(6): 306-9, 2008 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-18422507

RESUMO

A six-month-old, female, domestic shorthair cat was presented with a history of failure to grow and bilateral corneal opacity caused by corneal oedema. Congenital hyposomatotropism and possible secondary hypothyroidism were diagnosed on the basis of fasting serum levels of insulin-like growth factor-1 and thyroxine levels, respectively. These endocrinopathies are rare in the cat and have not been reported to cause ocular signs. The cat died during investigation of these diseases, and histopathological examination of the eyes showed significantly reduced corneal endothelial cell density and number of corneal epithelial cell layers when compared with age-matched healthy control corneas. These changes were implicated in the development of the corneal oedema.


Assuntos
Doenças do Gato/congênito , Edema da Córnea/veterinária , Nanismo Hipofisário/veterinária , Animais , Doenças do Gato/diagnóstico , Gatos , Edema da Córnea/congênito , Edema da Córnea/etiologia , Edema da Córnea/patologia , Nanismo Hipofisário/complicações , Nanismo Hipofisário/congênito , Feminino , Imuno-Histoquímica/veterinária , Fator de Crescimento Insulin-Like I/metabolismo , Tiroxina/sangue
7.
J Anim Physiol Anim Nutr (Berl) ; 91(5-6): 247-51, 2007 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-17516947

RESUMO

From 1994 to 2004, Hill's Pet Nutrition received 4495 canine (65%) and feline (35%) uroliths from Benelux veterinary practitioners. They were sent to the Minnesota Urolith Center, USA for analysis. In 1994, 110 uroliths were analysed - 85% from dogs - and in 2003, 1067 uroliths were analysed - 59% from dogs. During this period, substantial changes were observed in composition. In 1994, 77% of the cats had uroliths composed of struvite, and 12% had uroliths composed of calcium oxalate. In 2003, feline uroliths were composed of 32% struvite, and 61% calcium oxalate. The same evolution was observed in the dogs. In 1994, 51% of canine uroliths were composed of struvite, and 33% of calcium oxalate. In 2003, 40% had struvite uroliths, and 46% had calcium oxalate uroliths. A significant effect of the size, the breed, and the gender were noticed in the dogs. The mean age of uroliths appearance was 7.3 years in the dogs and 7.2 years in the cats. The findings are similar to those previously published in the USA.


Assuntos
Ração Animal/efeitos adversos , Doenças do Gato/epidemiologia , Doenças do Cão/epidemiologia , Cálculos Urinários/veterinária , Urolitíase/veterinária , Fenômenos Fisiológicos da Nutrição Animal , Animais , Bélgica/epidemiologia , Cruzamento , Oxalato de Cálcio/análise , Doenças do Gato/etiologia , Gatos , Doenças do Cão/etiologia , Cães , Feminino , Luxemburgo/epidemiologia , Compostos de Magnésio/análise , Masculino , Países Baixos/epidemiologia , Fosfatos/análise , Estudos Retrospectivos , Fatores Sexuais , Estruvita , Cálculos Urinários/química , Urolitíase/epidemiologia , Urolitíase/etiologia
8.
J Comp Pathol ; 135(2-3): 93-99, 2006.
Artigo em Inglês | MEDLINE | ID: mdl-16952367

RESUMO

This study demonstrated immunohistochemically the expression of cyclooxygenase-1 (COX-1) and cyclooxygenase-2 (COX-2) in feline oral squamous cell carcinoma (FOSCC), with primary polyclonal antibodies raised against human epitopes. COX-2 immunolabelling was intracytoplasmic and, in some neoplastic cells, perinuclear; it was demonstrated in a small proportion (< or = 1%) of neoplastic cells and its intensity was usually mild to moderate. In contrast, all neoplastic tissues showed extensive nuclear and cytoplasmic COX-1 immunolabelling. Cytoplasmic COX-1 immunolabelling was less intense than nuclear labelling in neoplastic tissue. In the adjacent histologically normal oral mucosa, COX-2 immunolabelling was absent. The cytoplasmic and nuclear intensity and distribution of COX-1 immunolabelling was significantly higher in neoplastic tissue than in adjacent normal oral mucosa. The results indicate that COX-1 and COX-2 are overexpressed in FOSCC, but the clinical and pathophysiological significance of this finding remains to be determined.


Assuntos
Carcinoma de Células Escamosas/enzimologia , Carcinoma de Células Escamosas/veterinária , Doenças do Gato/enzimologia , Ciclo-Oxigenase 1/metabolismo , Ciclo-Oxigenase 2/metabolismo , Neoplasias Bucais/enzimologia , Neoplasias Bucais/veterinária , Animais , Carcinoma de Células Escamosas/genética , Carcinoma de Células Escamosas/patologia , Doenças do Gato/genética , Doenças do Gato/patologia , Gatos , Ciclo-Oxigenase 1/genética , Ciclo-Oxigenase 2/genética , Regulação Enzimológica da Expressão Gênica , Regulação Neoplásica da Expressão Gênica/genética , Imuno-Histoquímica , Mucosa Bucal/enzimologia , Mucosa Bucal/patologia , Neoplasias Bucais/genética , Neoplasias Bucais/patologia
9.
J Small Anim Pract ; 47(6): 338-43, 2006 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-16761986

RESUMO

Two cases of ascites secondary to portal vascular abnormalities associated with portal hypertension are described. In the first case a five-month-old cat was presented with recurrent ascites and investigations showed that the underlying cause was a hepatic arteriovenous fistula. Ultrasonography showed direct communication of the coeliac artery and right branch of the portal vein. There was also hepatofugal flow in the main portal vein consistent with portal hypertension. The ultrasonographic features were similar to those seen in dogs with hepatic arteriovenous fistulae. In the second case, ascites, portal hypertension and an intraluminal mass in the main portal vein was diagnosed in a 16-year-old cat that had been presented with hyperthyroidism and hepatomegaly. Acquired portosystemic collaterals involving the left renal vein were present. Additional diagnostic investigations were not permitted. Ultrasonography was useful in both cases to document portal hypertension and the underlying cause.


Assuntos
Fístula Arteriovenosa/veterinária , Doenças do Gato/diagnóstico por imagem , Hipertensão Portal/veterinária , Hepatopatias/veterinária , Animais , Fístula Arteriovenosa/complicações , Fístula Arteriovenosa/diagnóstico por imagem , Doenças do Gato/patologia , Gatos , Artéria Celíaca/anormalidades , Diagnóstico Diferencial , Feminino , Hipertensão Portal/diagnóstico por imagem , Hipertensão Portal/etiologia , Hepatopatias/complicações , Hepatopatias/diagnóstico por imagem , Masculino , Veia Porta/anormalidades , Veias Renais/anormalidades , Ultrassonografia/veterinária
11.
J Small Anim Pract ; 47(5): 256-63, 2006 May.
Artigo em Inglês | MEDLINE | ID: mdl-16674720

RESUMO

OBJECTIVES: To evaluate whether dogs with megaoesophagus due to myasthenia gravis display less oesophageal dilatation radiographically than dogs with other causes of megaoesophagus. METHODS: Thoracic radiographs of 66 dogs with megaoesophagus in which concurrent acetylcholine receptor antibody titre was known were analysed retrospectively. Maximum oesophageal diameter was transformed to a "relative oesophageal diameter" using a ratio with thoracic inlet diameter. Dogs were divided into two groups according to "MG" or "non-MG" antibody status and median relative oesophageal diameter values were compared between groups and with age, weight and sex. A receiver operating characteristic plot was used to evaluate a suitable relative oesophageal diameter cut-off. RESULTS: Twenty dogs were diagnosed with myasthenia gravis and 46 with other causes of megaoesophagus. Thoracic inlet size correlated significantly with bodyweight and surface area (r(2)=0.627 and 0.669, respectively). Median values of relative oesophageal diameter for the MG group and non-MG group were 0.58 and 0.66, respectively, and these showed a small, but significant, difference (P=0.029), although there was complete overlap in the range of relative oesophageal diameter values between groups. There was no significant association between relative oesophageal diameter and sex, age or weight or significant difference in age, sex or weight between the two groups. An increased odds ratio for myasthenia gravis existed in golden retrievers and German shepherd dogs. CLINICAL SIGNIFICANCE: Relative oesophageal diameter appears to be of limited diagnostic utility in distinguishing dogs with megaoesophagus due to myasthenia gravis from those with megaoesophagus due to other causes.


Assuntos
Doenças do Cão/diagnóstico por imagem , Miastenia Gravis/veterinária , Animais , Anticorpos/sangue , Doenças Autoimunes/complicações , Doenças Autoimunes/imunologia , Doenças Autoimunes/veterinária , Peso Corporal/fisiologia , Diagnóstico Diferencial , Doenças do Cão/diagnóstico , Doenças do Cão/etiologia , Cães , Acalasia Esofágica/diagnóstico , Acalasia Esofágica/diagnóstico por imagem , Acalasia Esofágica/etiologia , Acalasia Esofágica/veterinária , Feminino , Masculino , Miastenia Gravis/complicações , Miastenia Gravis/diagnóstico , Miastenia Gravis/diagnóstico por imagem , Razão de Chances , Radiografia , Estudos Retrospectivos
12.
Vet Rec ; 158(9): 287-91, 2006 Mar 04.
Artigo em Inglês | MEDLINE | ID: mdl-16517820

RESUMO

Between 1997 and 1999, 280 dogs with mast cell tumours were identified, of which 59 (21 per cent) had multiple tumours. Follow-up data for survival analysis were available for 145 dogs with single tumours and 50 dogs with multiple tumours. There was no significant difference between the survival times of the two groups; the survival rates after 12 and 24 months were 88 per cent and 83 per cent, respectively, for the dogs with single tumours, and 86 per cent at both intervals for the dogs with multiple tumours. Eight of the dogs with single tumours had lymph node metastases (stage II disease) and these dogs had a median survival time of 431 days, whereas the 50 dogs with multiple tumours (classified as stage III disease) and the dogs with single tumours (classified as stage I disease) had not reached their median survival times. Golden retrievers appeared to be predisposed to developing multiple tumours in the population studied, with an odds ratio of 3.8. This study found no evidence that dogs with multiple tumours had different survival times than those with single tumours, although there was evidence that the presence of lymph node metastasis generally carried a poorer prognosis.


Assuntos
Doenças do Cão/mortalidade , Doenças do Cão/patologia , Sarcoma de Mastócitos/veterinária , Neoplasias Cutâneas/veterinária , Animais , Cruzamento , Cães , Metástase Linfática , Sarcoma de Mastócitos/mortalidade , Sarcoma de Mastócitos/patologia , Estadiamento de Neoplasias , Prognóstico , Estudos Retrospectivos , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/patologia , Taxa de Sobrevida , Resultado do Tratamento
13.
Vet Comp Oncol ; 3(4): 222-9, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19754777

RESUMO

Abstract A retrospective study was undertaken of dogs presented to the Animal Health Trust for treatment of oral malignant melanoma, without radiographic evidence of pulmonary metastases. Group 1 (n = 13) received radiotherapy of the primary and any lymph node metastases (4 weekly fractions of 9 Gy); and group 2 (n = 15) were treated the same but additionally received between two and six doses carboplatin at 300 mg m(-2) every 3 weeks. Median survival times for the two groups were 307 and 286 days, respectively (P > 0.05). In addition, carboplatin therapy did not significantly reduce the proportion of dogs dying due to metastases (three from group 1 and four from group 2). We found no evidence of a beneficial effect of carboplatin therapy over radiotherapy alone.

14.
Med Humanit ; 31(2): 81-8, 2005 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23674665

RESUMO

Experiencing a spinal cord injury (SCI) and becoming disabled through sport is a major disruptive life event that instigates a multiplicity of difficult and complex issues that the person has to deal with. One of these problems is how to restory a life and construct new body/self relationships and identities over time. To explore this process, we focus on the life stories of a small group of men (n = 14) who have suffered SCI and become disabled through playing rugby football. We illustrate the ways in which certain metaphors, notions of time, and kinds of hope, congregate and coalesce within three specific narrative types and how these operate to shape the individual experiences of these men following SCI. The implications of this dynamic process for the storied body/self and identity construction are highlighted throughout.

15.
Vet Rec ; 154(24): 743-6, 2004 Jun 12.
Artigo em Inglês | MEDLINE | ID: mdl-15224593

RESUMO

The histological grade of 340 cutaneous mast cell tumours derived from 280 dogs was determined by an established histological grading system; 87 of the tumours (26 per cent) were well differentiated, 199 (59 per cent) were intermediately differentiated and 54 (16 per cent) were poorly differentiated. The one-year survival rates for the dogs with tumours of these three grades were significantly different (P = 0.0001), being 100 per cent, 92 per cent and 46 per cent, respectively. The median survival time for the dogs with poorly differentiated tumours was 278 days, significantly shorter than that for the dogs with either intermediately or well-differentiated tumours, which were both over 1300 days. Regrowth of the tumours was identified in 10 (19 per cent) of the dogs with poorly differentiated tumours, 12 (6 per cent) of the dogs with intermediately differentiated tumours and one of the dogs with well-differentiated tumours; only three of the tumours which regrew had initially had complete margins. The results suggest that wide surgical margins are not a prerequisite for a successful long-term outcome in dogs with well-differentiated cutaneous mast cell tumours.


Assuntos
Doenças do Cão/mortalidade , Doenças do Cão/cirurgia , Sarcoma de Mastócitos/veterinária , Recidiva Local de Neoplasia/veterinária , Neoplasias Cutâneas/veterinária , Animais , Doenças do Cão/patologia , Cães , Inglaterra/epidemiologia , Feminino , Masculino , Sarcoma de Mastócitos/mortalidade , Sarcoma de Mastócitos/cirurgia , Recidiva Local de Neoplasia/mortalidade , Recidiva Local de Neoplasia/cirurgia , Estadiamento de Neoplasias , Linhagem , Registros/veterinária , Estudos Retrospectivos , Neoplasias Cutâneas/mortalidade , Neoplasias Cutâneas/cirurgia , Análise de Sobrevida
17.
J Sports Sci ; 19(10): 777-809, 2001 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-11561674

RESUMO

Contemporary aspects of research methods in sport and exercise psychology are discussed in this wide-ranging review. After an introduction centred on trends in sport and exercise psychology methods, the review is organized around the major themes of quantitative and qualitative research. Our aim is to highlight areas that may be problematic or controversial (e.g. stepwise statistical procedures), underused (e.g. discriminant analysis), increasingly used (e.g. meta-analysis, structural equation modelling, qualitative content analysis) and emergent (e.g. realist tales of writing). Perspectives range from the technical and speculative to the controversial and critical. While deliberately not providing a 'cookbook' approach to research methods, we hope to provide enough material to help researchers to appreciate the diversity of potential methods and to adopt a more critical perspective in their own research consumption and production.


Assuntos
Exercício Físico/fisiologia , Projetos de Pesquisa , Esportes/psicologia , Análise Discriminante , Exercício Físico/psicologia , Humanos , Metanálise como Assunto , Modelos Estatísticos , Análise Multivariada , Sensibilidade e Especificidade , Esportes/fisiologia
18.
Qual Health Res ; 11(4): 538-52, 2001 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-11521610

RESUMO

In a recent editorial, Morse warned against qualitative health researchers turning their backs on fundamental concepts such as validity and called on them to think, reconsider, and undo. With a view to stimulating further dialogue, in this article the author explores where this thinking, reconsidering, and undoing might take us in relation to the concept of validity. Four perspectives on this issue are presented for discussion: the replication, parallel, diversification, and letting-go perspectives. Each is seen as worthy of consideration in its own right, and it is suggested that coexistence of the perspectives is possible despite their differences. The implications of various forms of coexistence are discussed in relation to the problem of criteria. It is recommended that qualitative health researchers learn to judge a variety of approaches in different but appropriate ways.


Assuntos
Pesquisa sobre Serviços de Saúde/métodos , Reprodutibilidade dos Testes , Estudos de Avaliação como Assunto , Pesquisa sobre Serviços de Saúde/normas , Humanos , Estados Unidos
19.
Diabet Med ; 18(5): 417-21, 2001 May.
Artigo em Inglês | MEDLINE | ID: mdl-11472455

RESUMO

INTRODUCTION: Maturity-onset diabetes of the young (MODY) is characterized by autosomal dominant inheritance of young-onset non-insulin-dependent diabetes. It accounts for approximately 1% of Type 2 diabetes (approximately 20 000 people in the UK). Diagnostic and predictive genetic tests are now possible for 80% of MODY families. Diagnostic tests can be helpful as the diagnosis can be confirmed and the subtype defined which has implications for treatment and prognosis. However predictive genetic testing, particularly in children, raises many scientific, ethical and practical questions. METHODS: This is a case report of a family with diabetes resulting from an hepatic nuclear factor (HNF)1alpha mutation, who request a predictive test in their 5-year-old daughter. The scientific issues arising from molecular genetic testing in MODY are discussed, along with the process of genetic counselling. The views of the family and the clinical genetics team involved are presented. RESULTS: The implications of positive and negative predictive test results and the possibility of postponing the test were among many issues discussed during genetic counselling. The family remained convinced the test was appropriate for their daughter and the clinical genetics team fully supported this decision. The family, motivated by their family history of diabetes and personal experiences of the disease, wished to reduce uncertainty about their daughter's future irrespective of the result. CONCLUSIONS: This case emphasizes that decisions on predictive testing are very personal and require appropriate counselling.


Assuntos
Diabetes Mellitus Tipo 2/genética , Testes Genéticos , Adolescente , Adulto , Idade de Início , Atitude Frente a Saúde , Criança , Pré-Escolar , Diabetes Mellitus Tipo 2/epidemiologia , Família/psicologia , Feminino , Aconselhamento Genético , Predisposição Genética para Doença , Testes Genéticos/psicologia , Humanos , Incidência , Masculino , Linhagem , Valor Preditivo dos Testes , Reino Unido/epidemiologia
20.
Gene ; 272(1-2): 121-9, 2001 Jul 11.
Artigo em Inglês | MEDLINE | ID: mdl-11470517

RESUMO

We have characterized the DSox14 gene, a new member of the family of transcription factors related to the mammalian sex determining factor, SRY. It contains two exons and the intron is large for Drosophila at 2.8 kb. The encoded protein consists of 691 amino acids (72 kDa) and includes an HMG box domain, which is closely related to the mouse Sox4 DNA binding domain. Expression of the DSox14 HMG box domain in vitro shows that it binds the sequence AACAAT with a K(d) of 190 nM, generating a bend angle of 48.6 degrees. At higher protein concentrations, a second HMG box binds at the recognition sequence, increasing the bend angle by 5 degrees. DSox14 is variably expressed throughout development as three alternative transcripts but not at all during the 1st and 2nd larval instars. The several mRNA transcripts are produced primarily from different transcriptional start sites. Analysis of the expression of DSox14 mRNAs during early development shows that they are maternally contributed at a low level and ubiquitously expressed during embryogenesis. The widespread pattern of expression suggests that DSox14 affects a large number of target genes.


Assuntos
Proteínas de Drosophila , Drosophila melanogaster/genética , Proteínas de Grupo de Alta Mobilidade/genética , Sequência de Aminoácidos , Animais , Sítios de Ligação , Northern Blotting , Clonagem Molecular , DNA/química , DNA/genética , DNA Complementar/química , DNA Complementar/genética , Proteínas de Ligação a DNA/genética , Proteínas de Ligação a DNA/metabolismo , Embrião não Mamífero/metabolismo , Feminino , Expressão Gênica , Regulação da Expressão Gênica no Desenvolvimento , Proteínas de Grupo de Alta Mobilidade/metabolismo , Hibridização In Situ , Masculino , Dados de Sequência Molecular , RNA Mensageiro/genética , RNA Mensageiro/metabolismo , Fatores de Transcrição SOXB2 , Alinhamento de Sequência , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
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