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1.
Public Health ; 218: 180-185, 2023 May.
Artigo em Inglês | MEDLINE | ID: mdl-37060738

RESUMO

OBJECTIVES: Tax policies targeted at reducing alcohol consumption are typically understood to be associated with economic losses, including in alcohol production and trade sectors. This study sought to determine whether the overall effect of reduced alcohol consumption might be positive once improvements in productivity associated with reduced alcohol-related consumption are considered. STUDY DESIGN: This study used Computable General Equilibrium economic modelling. METHODS: An economic modelling framework was developed for Scotland, which considered the fiscal and economic impacts of alcohol taxation and the economy-wide impacts. Simulation of hypothetical alcohol taxes and improvements in labour productivity calibrated on losses due to absenteeism and presenteeism in Scotland in 2017. RESULTS: The long-run impacts of a five pence increase in taxation alone produce negative economic impacts on jobs and Gross Domestic Product in Scotland (1189 jobs and £71.12 million). These effects are reduced by half - but remain negative - when the revenues from such policy are recycled to the economy through government spending. A small improvement in labour productivity - equivalent to 4.95% of the total productivity gap from absenteeism and presenteeism estimated for Scotland - would be sufficient to turn the economic consequence non-negative. CONCLUSIONS: The overall macroeconomic impact of policies targeted at alcohol consumption should include consideration of the potential productivity effect and that impact studies that do not include such mechanisms are likely to overstate the negative economic impacts of alcohol policies.


Assuntos
Consumo de Bebidas Alcoólicas , Bebidas Alcoólicas , Humanos , Consumo de Bebidas Alcoólicas/epidemiologia , Impostos , Política Pública , Modelos Econômicos , Etanol
2.
AJNR Am J Neuroradiol ; 43(11): 1660-1666, 2022 11.
Artigo em Inglês | MEDLINE | ID: mdl-36229163

RESUMO

BACKGROUND AND PURPOSE: Zhu-Tokita-Takenouchi-Kim syndrome is a severe multisystem malformation disorder characterized by developmental delay and a diverse array of congenital abnormalities. However, these currently identified phenotypic components provide limited guidance in diagnostic situations, due to both the nonspecificity and variability of these features. Here we report a case series of 7 individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome, 5 ascertained by their presentation with the neuronal migration disorder, periventricular nodular heterotopia. MATERIALS AND METHODS: Individuals with a molecular diagnosis of Zhu-Tokita-Takenouchi-Kim syndrome were recruited from 2 sources, a high-throughput sequencing study of individuals with periventricular nodular heterotopia or from clinical diagnostic sequencing studies. We analyzed available brain MR images of recruited individuals to characterize periventricular nodular heterotopia distribution and to identify the presence of any additional brain abnormalities. RESULTS: Pathogenic variants in SON, causative of Zhu-Tokita-Takenouchi-Kim syndrome, were identified in 7 individuals. Brain MR images from these individuals were re-analyzed. A characteristic set of imaging anomalies in addition to periventricular nodular heterotopia was identified, including the elongation of the pituitary stalk, cerebellar enlargement with an abnormally shaped posterior fossa, rounding of the caudate nuclei, hippocampal malformations, and cortical anomalies including polymicrogyria or dysgyria. CONCLUSIONS: The recurrent neuroradiologic changes identified here represent an opportunity to guide diagnostic formulation of Zhu-Tokita-Takenouchi-Kim syndrome on the basis of brain MR imaging evaluation.


Assuntos
Encefalopatias , Deficiência Intelectual , Heterotopia Nodular Periventricular , Humanos , Encéfalo/patologia , Imageamento por Ressonância Magnética , Encefalopatias/patologia , Deficiência Intelectual/patologia
3.
Pathologica ; 110(2): 121-122, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-30546150

RESUMO

Ovarian steroid cell tumours are rare virilizing tumours. They are three types of tumours of ovary which are characterized by steroid cell proliferation : Leydig cell tumour, steroid cell tumour, Not Otherwise Specified (NOS) and stromal luteoma. Here we present a case of 36 year old female, who presented with history of weight loss since last two and half months. There is history of amenorrhoea and hirsuitism. Her CA was 125: 11.4 IU/ml (0-35 U/mL). Blood Testosterone levels was elevated with value of 150 ng/ml (5.71-77 ng/ml). Serum Inhibin A, Inhibin B, FSH, LH and prolactin were within normal limits. The steroid cell tumour, NOS are mostly benign but few of them behave in malignant fashion. Hayes and Scully gave few histopathological features which favour malignant behavior. These tumours should be differentiated from leydig cell tumour by lack of cytoplasmic Reinkes' crystals as well as from other neoplasms like primary clear cell carcinoma, metastatic clear cell renal cell carcinoma and adrenocortical tumour.


Assuntos
Neoplasias Ovarianas/patologia , Tumores do Estroma Gonadal e dos Cordões Sexuais/patologia , Adulto , Biomarcadores Tumorais/sangue , Biópsia , Feminino , Humanos , Imuno-Histoquímica , Imageamento por Ressonância Magnética , Neoplasias Ovarianas/sangue , Neoplasias Ovarianas/diagnóstico por imagem , Neoplasias Ovarianas/cirurgia , Tumores do Estroma Gonadal e dos Cordões Sexuais/sangue , Tumores do Estroma Gonadal e dos Cordões Sexuais/diagnóstico por imagem , Tumores do Estroma Gonadal e dos Cordões Sexuais/cirurgia
4.
Neurogastroenterol Motil ; 30(9): e13371, 2018 09.
Artigo em Inglês | MEDLINE | ID: mdl-29781137

RESUMO

BACKGROUND: Primary chronic intestinal pseudo-obstruction (CIPO) is a rare, potentially life-threatening disorder characterized by severely impaired gastrointestinal motility. The objective of this study was to examine the contribution of ACTG2, LMOD1, MYH11, and MYLK mutations in an Australasian cohort of patients with a diagnosis of primary CIPO associated with visceral myopathy. METHODS: Pediatric and adult patients with primary CIPO and suspected visceral myopathy were recruited from across Australia and New Zealand. Sanger sequencing of the genes encoding enteric gamma-actin (ACTG2) and smooth muscle leiomodin (LMOD1) was performed on DNA from patients, and their relatives, where available. MYH11 and MYLK were screened by next-generation sequencing. KEY RESULTS: We identified heterozygous missense variants in ACTG2 in 7 of 17 families (~41%) diagnosed with CIPO and its associated conditions. We also identified a previously unpublished missense mutation (c.443C>T, p.Arg148Leu) in one family. One case presented with megacystis-microcolon-intestinal hypoperistalsis syndrome in utero with subsequent termination of pregnancy at 28 weeks' gestation. All of the substitutions identified occurred at arginine residues. No likely pathogenic variants in LMOD1, MYH11, or MYLK were identified within our cohort. CONCLUSIONS AND INFERENCES: ACTG2 mutations represent a significant underlying cause of primary CIPO with visceral myopathy and associated phenotypes in Australasian patients. Thus, ACTG2 sequencing should be considered in cases presenting with hypoperistalsis phenotypes with suspected visceral myopathy. It is likely that variants in other genes encoding enteric smooth muscle contractile proteins will contribute further to the genetic heterogeneity of hypoperistalsis phenotypes.


Assuntos
Actinas/genética , Predisposição Genética para Doença/genética , Pseudo-Obstrução Intestinal/genética , Adolescente , Adulto , Australásia , Criança , Pré-Escolar , Feminino , Humanos , Lactente , Masculino , Pessoa de Meia-Idade , Mutação de Sentido Incorreto , Adulto Jovem
5.
Pathologica ; 109(4): 412-413, 2017 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-29449736

RESUMO

Adenoid cystic carcinoma is a rare neoplasm accounting for <0.1% of breast carcinomas. The mean age of presentation is fifth to sixth decade of life and it generally presents as a painful breast lump. The histological features are characteristic with cribriform and acinar pattern of basaloid cells. It is triple negative tumor with CD117 and p63 positivity and excellent prognosis.


Assuntos
Neoplasias da Mama/diagnóstico , Carcinoma Adenoide Cístico/diagnóstico , Neoplasias de Mama Triplo Negativas/diagnóstico , Mama/patologia , Neoplasias da Mama/patologia , Carcinoma Adenoide Cístico/patologia , Feminino , Humanos , Proteínas de Membrana/análise , Pessoa de Meia-Idade , Prognóstico , Proteínas Proto-Oncogênicas c-kit/análise , Neoplasias de Mama Triplo Negativas/patologia
7.
Int J Lab Hematol ; 37(6): 774-82, 2015 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-26224117

RESUMO

INTRODUCTION: Peripheral blood and bone marrow smear examination is an important basic tool for the diagnosis of different haematological conditions including haematological malignancies. We created a newer modification of the conventional Leishman and Giemsa stains as Leishman and Giemsa (L&G) stain and compared the efficacy and reliability of this stain with conventional stains. The study was performed to evaluate the staining efficacy, feasibility, time and cost of L&G stain over the conventional Leishman and Giemsa stains. METHODS: A pilot study was carried out in the Department of Haematology of our hospital from October 2013 to December 2013. Hundred selected cases, each with peripheral blood and bone marrow smears were taken, and three sets of the smears were prepared from each sample--one for L&G stain and other two--one each for conventional Leishman and Giemsa stains. This staining is further incorporated in our routine standard operating protocols for staining of all the peripheral blood smears in automated stainer, Sysmex SP10. RESULT: The average grading score from each staining methods from all the three experts was compiled. The average grading score of L&G staining method was noted to be significantly higher than the other two methods (analysis of variance test, P value < 0.05). When modified L&G stain (C) was compared with stain conventional stains (A and B), a P value of <0.001 was noted in all parameters except between Leishman stain and L&G stain in mature RBC and WBC nucleus and RBC inclusions (P value between 0.05 and 0.001). CONCLUSION: L&G staining is a newer staining technique of immense help in high-throughput haematology laboratories by offering a time-saving, cost-effective and better staining option to conventional staining methods. It gives a better nuclear and cytoplasmic differential staining and can also be used in automated blood counters/stainer.


Assuntos
Corantes Azur , Células da Medula Óssea/patologia , Exame de Medula Óssea/métodos , Medula Óssea/patologia , Exame de Medula Óssea/normas , Humanos , Reprodutibilidade dos Testes
9.
Am J Med Genet C Semin Med Genet ; 163C(4): 259-70, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-24127277

RESUMO

Craniosynostosis is one of the most common craniofacial disorders encountered in clinical genetics practice, with an overall incidence of 1 in 2,500. Between 30% and 70% of syndromic craniosynostoses are caused by mutations in hotspots in the fibroblast growth factor receptor (FGFR) genes or in the TWIST1 gene with the difference in detection rates likely to be related to different study populations within craniofacial centers. Here we present results from molecular testing of an Australia and New Zealand cohort of 630 individuals with a diagnosis of craniosynostosis. Data were obtained by Sanger sequencing of FGFR1, FGFR2, and FGFR3 hotspot exons and the TWIST1 gene, as well as copy number detection of TWIST1. Of the 630 probands, there were 231 who had one of 80 distinct mutations (36%). Among the 80 mutations, 17 novel sequence variants were detected in three of the four genes screened. In addition to the proband cohort there were 96 individuals who underwent predictive or prenatal testing as part of family studies. Dysmorphic features consistent with the known FGFR1-3/TWIST1-associated syndromes were predictive for mutation detection. We also show a statistically significant association between splice site mutations in FGFR2 and a clinical diagnosis of Pfeiffer syndrome, more severe clinical phenotypes associated with FGFR2 exon 10 versus exon 8 mutations, and more frequent surgical procedures in the presence of a pathogenic mutation. Targeting gene hot spot areas for mutation analysis is a useful strategy to maximize the success of molecular diagnosis for individuals with craniosynostosis.


Assuntos
Acrocefalossindactilia/genética , Disostose Craniofacial/genética , Craniossinostoses/genética , Acrocefalossindactilia/diagnóstico , Acrocefalossindactilia/patologia , Austrália , Disostose Craniofacial/diagnóstico , Disostose Craniofacial/patologia , Craniossinostoses/classificação , Craniossinostoses/diagnóstico , Craniossinostoses/patologia , Humanos , Mutação , Nova Zelândia , Proteínas Nucleares/genética , Receptor Tipo 1 de Fator de Crescimento de Fibroblastos/genética , Receptor Tipo 2 de Fator de Crescimento de Fibroblastos/genética , Receptor Tipo 3 de Fator de Crescimento de Fibroblastos/genética , Proteína 1 Relacionada a Twist/genética
10.
Neurology ; 78(9): 649-57, 2012 02 28.
Artigo em Inglês | MEDLINE | ID: mdl-22345219

RESUMO

OBJECTIVE: To compare the phenotype of primary-appearing dystonia due to variant ataxia-telangiectasia (A-T) with that of other dystonia ascertained for genetics research. METHODS: Movement disorder specialists examined 20 Canadian Mennonite adult probands with primary-appearing dystonia, as well as relatives in 4 families with parent-child transmission of dystonia. We screened for the exon 43 c.6200 C>A (p. A2067D) ATM mutation and mutations in DYT1 and DYT6. Clinical features of the individuals with dystonia who were harboring ATM mutations were compared with those of individuals without mutations. RESULT: Genetic analysis revealed a homozygous founder mutation in ATM in 13 members from 3 of the families, and no one harbored DYT6 or DYT1 mutations. Dystonia in ATM families mimicked other forms of early-onset primary torsion dystonia, especially DYT6, with prominent cervical, cranial, and brachial involvement. Mean age at onset was markedly younger in the patients with variant A-T (n = 12) than in patients with other dystonia (n = 23), (12 years vs 40 years, p < 0.05). The patients with A-T were remarkable for the absence of notable cerebellar atrophy on MRI, lack of frank ataxia on examination, and absence of ocular telangiectasias at original presentation, as well as the presence of prominent myoclonus-dystonia in 2 patients. Many also developed malignancies. CONCLUSION: Ataxia and telangiectasias may not be prominent features of patients with variant A-T treated for dystonia in adulthood, and variant A-T may mimic primary torsion dystonia and myoclonus-dystonia.


Assuntos
Ataxia Telangiectasia/genética , Distúrbios Distônicos/genética , Adolescente , Adulto , Idade de Início , Ataxia Telangiectasia/complicações , Canadá , Criança , Distonia/etiologia , Distonia/genética , Distúrbios Distônicos/etiologia , Feminino , Testes Genéticos , Humanos , Masculino , Pessoa de Meia-Idade , Mutação , Linhagem , Fenótipo
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