Your browser doesn't support javascript.
loading
Mostrar: 20 | 50 | 100
Resultados 1 - 15 de 15
Filtrar
1.
BMC Med Educ ; 24(1): 900, 2024 Aug 21.
Artigo em Inglês | MEDLINE | ID: mdl-39169380

RESUMO

BACKGROUND: In Australia, university clinical programs rely heavily on external healthcare professionals to provide a range of authentic clinical training and professional development opportunities for students. There is, however, a limited understanding of the factors that motivate these professionals to be educators and whether this varies across different healthcare disciplines within Australia. As the demand for clinical placements continues to increase, it is critical for the ongoing success of these programs that universities identify both the barriers associated with teaching and the benefits that enhance job satisfaction. METHODS: A two-part questionnaire was emailed to 849 external healthcare educators teaching predominantly in Medicine, Medical Imaging, and Optometry programs at Deakin University. Part-one surveyed the socio-demographics, perceived benefits, and barriers to teaching, plus the utilisation of entitlements offered by the university. Part-two was modelled on Dybowski and Harendza's validated Physician Teaching Motivation Questionnaire (PTMQ) and adapted to an Australian audience. RESULTS: Overall, 776 out of the 849 questionnaires were considered in the final participant pool. The response rate for part-one was 19.7% (n = 153/776) and 18.3% (n = 142/776) for part-two. Across all professions, altruism was the primary source of motivation for teaching in Deakin University's healthcare programs. Medical Imaging educators placed a higher value on career-related teaching aspects compared to those in Medicine and Optometry (p < 0.003). The resources and benefits associated with teaching were generally perceived to be of minimal importance. External healthcare educators most commonly reported that there were no barriers to teaching (41.3%, n = 78) however, increased workloads and time constraints were the next most likely factors to affect teaching participation (31.8%, n = 60). CONCLUSION: Our validated adaptation of the PTMQ successfully targeted healthcare professions not focussed on by Dybowski and Harendza. Altruistic motivation was the overarching theme for why Australian external healthcare educators contribute to teaching with some differences in career-driven motivation additionally acknowledged. Despite there being no key benefits or barriers to teaching participation, universities must remain cognisant of the factors that influence the recruitment and retention of external healthcare educators and how to optimise these for the ongoing success and sustainability of their teaching programs.


Assuntos
Motivação , Humanos , Austrália , Inquéritos e Questionários , Masculino , Feminino , Adulto , Ensino , Altruísmo , Pessoa de Meia-Idade
2.
BMC Med Educ ; 22(1): 700, 2022 Oct 04.
Artigo em Inglês | MEDLINE | ID: mdl-36195862

RESUMO

BACKGROUND: Given the importance of the selection process, many medical schools are reviewing their selection criteria. The traditional pathway for post-graduate medicine has been from science-based undergraduate degrees, however some programs are expanding their criteria. In this study we investigated academic success across all years and themes of the Deakin University medical degree, based on the type of degree undertaken prior to admission. We evaluated whether the traditional pathway of biomedical science into medicine should remain the undergraduate degree of choice, or whether other disciplines should be encouraged. METHODS: Data from 1159 students entering the degree from 2008 to 2016 was collected including undergraduate degree, grade point average (GPA), Graduate Medical Schools Admission Test (GAMSAT) score and academic outcomes during the 4 years of the degree. Z-scores were calculated for each assessment within each cohort and analysed using a one sample t-test to determine if they differed from the cohort average. Z-scores between groups were analysed by 1-way ANOVA with LSD post-hoc analysis correcting for multiple comparisons. RESULTS: The majority of students had Science (34.3%) or Biomedical Science (31.0%) backgrounds. 27.9% of students had a Health-related undergraduate degree with smaller numbers of students from Business (3.5%) and Humanities (3.4%) backgrounds. At entry, GPA and GAMSAT scores varied significantly with Biomedical Science and Science students having significantly higher scores than Health students. Health students consistently outperformed students from other disciplines in all themes while Biomedical Science students underperformed. CONCLUSIONS: Our data suggest that a Health-related undergraduate degree results in the best performance throughout medical school, whereas a Biomedical Science background is associated with lower performance. These findings challenge the traditional Biomedical Science pathway into medicine and suggest that a health background might be more favourable when determining the selection criteria for graduate entry into medicine.


Assuntos
Desempenho Acadêmico , Educação de Graduação em Medicina , Estudantes de Medicina , Humanos , Educação de Graduação em Medicina/métodos , Avaliação Educacional , Critérios de Admissão Escolar , Faculdades de Medicina , Estudantes
3.
BMJ Nutr Prev Health ; 4(1): 251-256, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-34308133

RESUMO

BACKGROUND: Poor nutrition is a major contributor to chronic disease, but the level of nutrition education in medical training is limited. Deakin University Medical School has been working to embed more nutrition into the curriculum since 2009. AIM: To assess the nutrition content of all summative examinations in the Bachelor of Medicine, Bachelor of Surgery over a 4-year period. METHODS: The type, amount and scope of nutrition-related questions were assessed in all summative examinations delivered to all 4-year levels from 2013 to 2016. These were assessed independently and analysed for nutrition content. The amount of nutrition was quantified, and the nutrition topic areas and nutrition competencies addressed were documented. RESULTS: Less than 10% of summative examination questions contained any nutrition content. For first-year and second-year students, these examinations included an average yearly total of 433 multiple choice questions (MCQs) (range 337-530) and 47 short answer questions (SAQs) (range 33-62). Third-year and fourth-year students had 150 MCQs on average per year and no SAQs. The percentage of nutrition-related questions across all 4 years ranged from 6% in 2013 to 10% in 2016. The proportion of SAQs with nutrition content ranged from 12% in 2013 to 19% in 2016. Basic nutritional sciences, accounted for 60% of nutrition content and, 25% addressed dietary strategies for prevention and treatment of disease, and skills-based nutrition competencies represented approximately 10% of all questions. SUMMARY AND CONCLUSIONS: Minimal nutrition was included in the summative examinations. There did not appear to be any consistent increase in the nutrition content of MCQs over the 4-year period but there was some indication of an increase in nutrition content in SAQs. Longer term evaluation is required to confirm this trend. Only a small number of nutrition questions were skills based, most focused on basic nutritional science. Examinations included few skills-based nutrition questions, and consideration of setting a minimum level of nutrition in examinations could assist in ensuring the development of appropriate nutrition competencies in medical graduates.

4.
Emerg Med Australas ; 33(4): 640-646, 2021 08.
Artigo em Inglês | MEDLINE | ID: mdl-33340262

RESUMO

OBJECTIVE: This retrospective observational study aimed to compare the impact of the Prevent Alcohol and Risk-Related Trauma Youth (P.A.R.T.Y.) Program when delivered as In-hospital or Outreach models to rural and regional students. METHODS: The study population were consented participants from regional areas between 2013 and 2017 who completed pre-programme, immediately post-programme and 3-5 months post-programme surveys. Responses from the metropolitan In-hospital programme participants and regional Outreach programme participants were analysed within groups across the three time points. The primary outcome variable was a change in self-reported perception of driving after drinking alcohol. Secondary outcome variables were designating a safe driver after drinking, perception of risk of injury if not wearing a seatbelt, risks of injury if undertaking physical risk-taking activities and likelihood of the programme changing perceptions. RESULTS: There were 1314 participants invited to participate and 547 (42%) sets of complete surveys were received, of whom 296 (54%) were Outreach participants. Pre-programme, a significantly lower proportion of Outreach participants reported 'definitely not' to driving after drinking (84% vs 91%), and perceived a 'definite' likelihood of sustaining injury if not wearing a seatbelt (57% vs 66%). Outreach participants displayed improvements in likelihood to drive after drinking alcohol immediately post-programme and on follow up (P = 0.028). Responses to all other secondary outcome measures demonstrated some improvement. CONCLUSIONS: Although demographically similar, baseline perceptions toward alcohol, risk-taking and injury differed between groups. Improvements in perception were demonstrated across both models. These findings support P.A.R.T.Y. as an injury prevention initiative for regional youth.


Assuntos
Hospitais , Estudantes , Adolescente , Humanos , Inquéritos e Questionários
5.
BMC Med Educ ; 19(1): 179, 2019 May 31.
Artigo em Inglês | MEDLINE | ID: mdl-31151448

RESUMO

BACKGROUND: As the global burden of chronic disease grows, and infectious disease threats loom large, the need for medical graduates with expertise in public health medicine (PHM) is growing. A recurrent challenge is integrating this broad knowledge into crowded medical curricula and making PHM relevant. This study describes the process of integrating public health content into an Australian graduate entry medical course. METHODS: A redesign of the PHM curriculum at Deakin University School of Medicine was conducted in 2014 to make the curriculum practice-based and solution-oriented. Central to the redesign was the development of a curriculum map. RESULTS: Public health is now taught from a practice-based framework adapted from the World Health Organization emphasizing skills aligned with the Australasian Faculty of Public Health Medicine domains that prepare students for specialisation. Learning outcomes are structured to build depth and application in student knowledge. Mapping the curriculum provided the ability to measure alignment of learning outcomes with course, university and accrediting body outcomes. Regular feedback from students indicates engagement has improved along with perceived relevance to future careers. CONCLUSIONS: Doctors with public health skills are increasingly sought after in Australia, particularly in rural areas. Deakin graduates are well placed to meet this demand.


Assuntos
Educação Médica/métodos , Educação Profissional em Saúde Pública/métodos , Austrália , Currículo , Educação Médica/organização & administração , Educação Profissional em Saúde Pública/organização & administração , Humanos , Prática de Saúde Pública
6.
Emerg Med Australas ; 30(2): 209-213, 2018 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-29356353

RESUMO

OBJECTIVE: The Prevent Alcohol and Risk-Related Trauma in Youth (P.A.R.T.Y.) Program at The Alfred uses vivid clinical reality to build resilience and prevent injury by following a trauma patient's journey through hospital. The present study aims to analyse the effect of P.A.R.T.Y. on safety perceptions of driving after alcohol, seat belt use and risk-taking activities. METHODS: Pre-programme, immediately post-programme and 3-5 months post-programme surveys with questions focused on the programme aims were distributed to all consented participants. RESULTS: There were 2502 participants during the study period and 1315 (53%) responses were received. The mean age was 16.2 (SD 0.8) years, 724 (56%) were women and 892 (68%) possessed a learner's permit for driving. Pre-programme, 1130 (86%) participants reported 'definitely not' likely to drive after drinking alcohol, that improved to 1231 (94%) immediately post-programme and 1215 (93%) at 3-5 months post-programme (P < 0.01). Designating a safe driver after drinking was reported by 1275 (97%) pre-programme, 1295 (98%) immediately post-programme and 1286 (98.2%) 3-5 months post-programme (P = 0.02). The perception of sustaining 'definite' injury after a motor vehicle crash without a seat belt increased from 780 (60%) pre-programme to 1051 (80%) immediately post-programme and 886 (69%) 3-5 months post-programme (P < 0.01). The possibility of sustaining 'definite' injury after risk-taking activities was reported by 158 (12%) pre-programme, 467 (36%) post-programme and 306 (23%) 3-5 months post-programme (P < 0.01). CONCLUSIONS: The P.A.R.T.Y. Program at The Alfred engaged substantial numbers of youths and achieved significant improvements among key outcome measures. Objectives were sustained at 3-5 months post-programme, but demonstrated decay, highlighting the importance of continual reinforcement.


Assuntos
Avaliação de Programas e Projetos de Saúde/métodos , Estudantes/psicologia , Consumo de Álcool por Menores/prevenção & controle , Adolescente , Comportamento do Adolescente/psicologia , Feminino , Humanos , Masculino , Fatores de Risco , Assunção de Riscos , Instituições Acadêmicas/organização & administração , Instituições Acadêmicas/estatística & dados numéricos , Inquéritos e Questionários
7.
Gen Comp Endocrinol ; 244: 201-208, 2017 04 01.
Artigo em Inglês | MEDLINE | ID: mdl-27102941

RESUMO

Water deprivation of the Spinifex hopping mouse, Notomys alexis, induced a biphasic pattern of food intake with an initial hypophagia that was followed by an increased, and then sustained food intake. The mice lost approximately 20% of their body mass and there was a loss of white adipose tissue. Stomach ghrelin mRNA was significantly higher at day 2 of water deprivation but then returned to the same levels as water-replete (day 0) mice for the duration of the experiment. Plasma ghrelin was unaffected by water deprivation except at day 10 where it was significantly increased. Plasma leptin levels decreased at day 2 and day 5 of water deprivation, and then increased significantly by the end of the water deprivation period. Water deprivation caused a significant decrease in skeletal muscle leptin mRNA expression at days 2 and 5, but then it returned to day 0 levels by day 29. In the hypothalamus, water deprivation caused a significant up-regulation in both ghrelin and neuropeptide Y mRNA expression, respectively. In contrast, hypothalamic GHSR1a mRNA expression was significantly down-regulated. A significant increase in LepRb mRNA expression was observed at days 17 and 29 of water deprivation. This study demonstrated that the sustained food intake in N. alexis during water deprivation was uncoupled from peripheral appetite-regulating signals, and that the hypothalamus appears to play an important role in regulating food intake; this may contribute to the maintenance of fluid balance in the absence of free water.


Assuntos
Regulação do Apetite/fisiologia , Grelina/metabolismo , Leptina/metabolismo , Murinae/fisiologia , Animais , Apetite , Austrália , DNA Complementar/genética , Ingestão de Alimentos/fisiologia , Regulação da Expressão Gênica/fisiologia , Hipotálamo/metabolismo , Rim/metabolismo , Camundongos , Neuropeptídeo Y/genética , RNA Mensageiro/genética , Regulação para Cima , Privação de Água
8.
J Cell Death ; 2: 9-23, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-26124677

RESUMO

The gene for Rhotekin 2 (RTKN2) was originally identified in a promyelocytic cell line resistant to oxysterol-induced apoptosis. It is differentially expressed in freshly isolated CD4(+) T-cells compared with other hematopoietic cells and is down-regulated following activation of the T-cell receptor. However, very little is known about the function of RTKN2 other than its homology to Rho-GTPase effector, rhotekin, and the possibility that they may have similar roles. Here we show that stable expression of RTKN2 in HEK cells enhanced survival in response to intrinsic apoptotic agents; 25-hydroxy cholesterol and camptothecin, but not the extrinsic agent, TNFα. Inhibitors of NF-KappaB, but not MAPK, reversed the resistance and mitochondrial pro-apoptotic genes, Bax and Bim, were down regulated. In these cells, there was no evidence of RTKN2 binding to the GTPases, RhoA or Rac2. Consistent with the role of RTKN2 in HEK over-expressing cells, suppression of RTKN2 in primary human CD4(+) T-cells reduced viability and increased sensitivity to 25-OHC. The expression of the pro-apoptotic genes, Bax and Bim were increased while BCL-2 was decreased. In both cell models RTKN2 played a role in the process of intrinsic apoptosis and this was dependent on either NF-KappaB signaling or expression of downstream BCL-2 genes. As RTKN2 is a highly expressed in CD4(+) T-cells it may play a role as a key signaling switch for regulation of genes involved in T-cell survival.

9.
J Neurol Sci ; 258(1-2): 4-10, 2007 Jul 15.
Artigo em Inglês | MEDLINE | ID: mdl-17445834

RESUMO

Motor neurone disease (MND) is an illness involving the progressive degeneration of upper and lower motor neurones. There is no known cause or cure. The physical aspects of MND frequently receive the majority of attention, with psychosocial aspects accorded secondary importance. We undertook a comprehensive search of the available literature published between 1966 and 2006 on the psychosocial aspects of MND, including quality of life (QoL), depression, social support, life sustaining treatment (LST), coping, spirituality and current practice. The literature identified that QoL correlated more strongly with measures of suffering, social support and hopelessness than with the physical state of the patient. Depression is relatively common (prevalence rates up to 50%), as are other forms of psychological distress in the MND population, and is not associated with illness severity and functional status. Depression strongly correlates with QoL. Social support is often limited for MND patients and this also influences QoL. Hope and hopelessness are important issues for MND patients with hopelessness contributing significantly to suffering and, for some, a desire for hastened death. Choices and decisions about life sustaining treatments pose a burden for patients and carers. Despite the physical and emotional suffering associated with MND, a significant number cope well and find positive meaning in life. Many patients opting for life sustaining treatment report a satisfactory QoL. In conclusion, psychosocial aspects of life are important for patients with MND. Depression and other expressions of distress require recognition and treatment. Issues of hope, spirituality and life and death also require attention in clinical practice. Although guidelines exist to direct physicians to attend to the physical care, there is a distinct lack of guidance to attend to the psychological state of the MND patient.


Assuntos
Doença dos Neurônios Motores/psicologia , Apoio Social , Atividades Cotidianas , Bases de Dados Factuais/estatística & dados numéricos , Humanos , Relações Interpessoais , Satisfação Pessoal , Qualidade de Vida , Estudos Retrospectivos , Espiritualidade , Inquéritos e Questionários
10.
J Comp Physiol B ; 177(2): 259-67, 2007 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-17109122

RESUMO

Natriuretic peptide receptors mediate the physiological response of natriuretic peptide hormones. One of the natriuretic peptide receptor types is the particulate guanylyl cyclase receptors, of which there are two identified: NPR-A and NPR-B. In fishes, these have been sequenced and characterized in eels, medaka, and dogfish shark (NPR-B only). The euryhaline rainbow trout provides an opportunity to further pursue examination of the system in teleosts. In this study, partial rainbow trout NPR-A-like and NPR-B-like mRNA sequences were identified via PCR and cloning. The sequence information was used in real-time PCR to examine mRNA expression in a variety of tissues of freshwater rainbow trout and rainbow trout acclimated to 35 parts per thousand seawater for a period of 10 days. In the excretory kidney and posterior intestine, real-time PCR analysis showed greater expression of NPR-B in freshwater fish than in those adapted to seawater; otherwise, there was no difference in the expression of the individual receptors in fresh water or seawater. In general, the expression of the NPR-A and NPR-B type receptors was quite low. These findings indicate that NPR-A and NPR-B mRNA expression is minimally altered under the experimental regime used in this study.


Assuntos
Guanilato Ciclase/genética , Oncorhynchus mykiss/metabolismo , RNA Mensageiro/metabolismo , Receptores do Fator Natriurético Atrial/genética , Adaptação Fisiológica , Sequência de Aminoácidos , Animais , Clonagem Molecular , Água Doce , Regulação da Expressão Gênica , Guanilato Ciclase/análise , Guanilato Ciclase/metabolismo , Mucosa Intestinal/metabolismo , Rim/metabolismo , Dados de Sequência Molecular , Reação em Cadeia da Polimerase , RNA Mensageiro/análise , RNA Mensageiro/genética , Receptores do Fator Natriurético Atrial/análise , Receptores do Fator Natriurético Atrial/metabolismo , Água do Mar , Equilíbrio Hidroeletrolítico/genética , Equilíbrio Hidroeletrolítico/fisiologia
11.
J Palliat Care ; 21(3): 173-9, 2005.
Artigo em Inglês | MEDLINE | ID: mdl-16334972

RESUMO

Although their disease processes and treatments are different, patients with motor neurone disease (MND) and those with late-stage cancer share a common situation--one in which the quality of life, rather than a cure, becomes the focus of care. We report here a comparison of 126 patients with MND and 125 with metastatic cancer on a range of physical and psychosocial measures. Compared to cancer patients, MND patients were younger, had greater social contacts, but were more physically impaired. Cancer patients had more pain and were on more medication (opioids, steroids, and analgesics). Although the Beck depression scores were similar in both groups, MND patients had significantly higher scores for demoralization, hopelessness, and suicidal ideation. Cancer patients, on the other hand, scored significantly higher on anhedonia. We suggest this difference in the quality of depression represents a difference in illness experience of the two groups and has relevance for the ways we treat depression in the medically ill.


Assuntos
Atividades Cotidianas , Adaptação Psicológica , Depressão/etiologia , Doença dos Neurônios Motores , Neoplasias , Adolescente , Idoso , Atitude Frente a Saúde , Depressão/diagnóstico , Depressão/prevenção & controle , Família/psicologia , Feminino , Nível de Saúde , Humanos , Relações Interpessoais , Modelos Logísticos , Pessoa de Meia-Idade , Moral , Doença dos Neurônios Motores/complicações , Doença dos Neurônios Motores/fisiopatologia , Doença dos Neurônios Motores/psicologia , Neoplasias/complicações , Neoplasias/fisiopatologia , Neoplasias/psicologia , Dor/diagnóstico , Dor/etiologia , Dor/prevenção & controle , Cuidados Paliativos , Qualidade de Vida , Apoio Social , Inquéritos e Questionários , Vitória
12.
J Steroid Biochem Mol Biol ; 88(3): 311-20, 2004 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-15120425

RESUMO

We have developed hematopoietic cells resistant to the cytotoxic effects of oxysterols. Oxysterol-resistant HL60 cells were generated by continuous exposure to three different oxysterols-25-hydroxycholesterol (25-OHC), 7-beta-hydroxycholesterol (7beta-OHC) and 7-keto-cholesterol (7kappa-C). We investigated the effects of 25-OHC, 7beta-OHC, 7kappa-C and the apoptotic agent staurosporine on these cells. The effect of the calcium channel blocker nifedipine on oxysterol cytotoxicity was also investigated. Differential display and real-time PCR were used to quantitate gene expression of oxysterol-sensitive and -resistant cells. Our results demonstrate that resistance to the cytotoxic effects of oxysterols is relatively specific to the type of oxysterol, and that the cytotoxicity of 25-OHC but not that of 7beta-OHC and 7kappa-C, appears to occur by a calcium dependent mechanism. Oxysterol-resistant cells demonstrated no significant difference in the expression of several genes previously implicated in oxysterol resistance, but expressed the bcl-2 gene at significantly lower levels than those observed in control cells. We identified three novel genes differentially expressed in resistant cells when compared to HL60 control cells. Taken together, the results of this study reveal potentially novel mechanisms of oxysterol cytotoxicity and resistance, and indicate that cytotoxicity of 25-OHC, 7beta-OHC and 7kappa-C occur by independent, yet overlapping mechanisms.


Assuntos
Leucemia/metabolismo , Esteróis/farmacologia , Sequência de Aminoácidos , Sequência de Bases , Primers do DNA , Células HL-60 , Humanos , Dados de Sequência Molecular , Nifedipino/farmacologia , Homologia de Sequência de Aminoácidos
13.
Arch Ophthalmol ; 121(12): 1753-61, 2003 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-14662596

RESUMO

OBJECTIVES: To provide a comprehensive description of the clinical presentations, cataract morphology, and molecular basis of hereditary hyperferritinemia-cataract syndrome (HHCS) in 4 Australian pedigrees and to estimate its prevalence. METHODS: All known cases of HHCS in southeastern Australia were ascertained. Family members provided a medical history and underwent physical examination, lens photography, and venipuncture for measurement of serum ferritin levels and DNA extraction. Sequence analysis of the iron-responsive element of the ferritin light chain on chromosome 19q13.3-qter was performed. RESULTS: We investigated 26 affected individuals from 5 Australian pedigrees. Two pedigrees with HHCS ascertained independently were subsequently found to form 1 large kindred carrying the mutation A40G. The minimum estimated prevalence of HHCS is 1/200000. One pedigree had the mutation G32C. Among 2 smaller pedigrees studied, one carried a novel mutation (C39A), and the other was identified through the 2-year-old propositus with cataract but no positive family history. The latter case was shown to be due to a de novo mutation (G32U). All cataracts were highly distinctive in morphology, consisting of slowly progressive flecks, vacuoles, and distinctive crystalline deposits scattered predominantly in the lens cortex but also in the nucleus. Eight of 18 affected individuals examined have required cataract extraction to date. No other identified clinical manifestations of HHCS were delineated. CONCLUSIONS: Cataract morphology in HHCS is highly distinctive. Longitudinal observation demonstrated slow progression of the cataracts. This study highlights that, although HHCS is an autosomal dominant condition, the diagnosis should be considered even in sporadic cataract of typical morphology. Furthermore, individuals with unexplained hyperferritinemia should be referred for ophthalmological assessment, as the cataract may be asymptomatic but lead to a correct diagnosis of HHCS. Clinical Relevance Progressive cataracts of highly distinctive morphology are an important feature of HHCS. Evaluation for this type of cataract may be of diagnostic value in patients with unexplained hyperferritinemia. Hereditary hyperferritinemia-cataract syndrome can be a cause of cataracts in pediatric patients even in the absence of any positive family history.


Assuntos
Catarata , Oftalmopatias Hereditárias , Ferritinas/sangue , Distúrbios do Metabolismo do Ferro , Cristalino/patologia , Mutação , Adolescente , Adulto , Austrália/epidemiologia , Catarata/epidemiologia , Catarata/genética , Catarata/patologia , Criança , Pré-Escolar , Cromossomos Humanos Par 19/genética , Análise Mutacional de DNA , Oftalmopatias Hereditárias/epidemiologia , Oftalmopatias Hereditárias/genética , Oftalmopatias Hereditárias/patologia , Feminino , Ferritinas/genética , Humanos , Lactente , Distúrbios do Metabolismo do Ferro/epidemiologia , Distúrbios do Metabolismo do Ferro/genética , Distúrbios do Metabolismo do Ferro/patologia , Masculino , Pessoa de Meia-Idade , Linhagem , Prevalência , Síndrome
14.
Br J Haematol ; 118(4): 1179-82, 2002 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-12199804

RESUMO

Hereditary hyperferritinaemia-cataract syndrome (HHCS) (OMIM #600886) is a rare autosomal dominant condition identified by high serum ferritin levels with normal iron saturation and distinctive bilateral cataract. It may be misdiagnosed as haemochromatosis and such patients become anaemic as a result of inappropriate venesection. The elevated serum ferritin is due to a mutation in the iron-responsive element (IRE) of the l-ferritin gene, resulting in excessive l-ferritin production. We report the identification of three Australian pedigrees; one with a previously described mutation at position 40, a pedigree with a novel mutation at position 39 and an individual with a de novo mutation at position 32 of the l-ferritin IRE.


Assuntos
Catarata/sangue , Ferritinas/sangue , Adulto , Austrália , Criança , Análise Mutacional de DNA , Feminino , Ferritinas/genética , Humanos , Proteínas Reguladoras de Ferro/genética , Masculino , Pessoa de Meia-Idade , Linhagem , Síndrome
15.
Gene ; 286(2): 249-57, 2002 Mar 20.
Artigo em Inglês | MEDLINE | ID: mdl-11943480

RESUMO

We have utilized differential display polymerase chain reaction to investigate the gene expression of hematopoietic progenitor cells from adult bone marrow and umbilical cord blood. A differentially expressed gene was identified in CD34+ hematopoietic progenitor cells, with low expression in CD34- cells. We have obtained the full coding sequence of this gene which we designated human mammalian ependymin-related protein 1 (MERP1). Expression of MERP1 was found in a variety of normal human tissues, and is 4- and 10-fold higher in adult bone marrow and umbilical cord blood CD34+ cells, respectively, compared to CD34- cells. Additionally, MERP1 expression in a hematopoietic stem cell enriched population was down-regulated with proliferation and differentiation. Conceptual translation of the MERP1 open reading frame reveals significant homology to two families of glycoprotein calcium-dependant cell adhesion molecules: ependymins and protocadherins.


Assuntos
Células-Tronco Hematopoéticas/metabolismo , Proteínas de Neoplasias , Proteínas do Tecido Nervoso/genética , Adulto , Sequência de Aminoácidos , Antígenos CD34/análise , Sequência de Bases , Northern Blotting , Células da Medula Óssea/imunologia , Células da Medula Óssea/metabolismo , Mapeamento Cromossômico/métodos , Cromossomos Humanos Par 7/genética , Biologia Computacional , DNA Complementar/química , DNA Complementar/genética , Sangue Fetal/citologia , Sangue Fetal/metabolismo , Regulação da Expressão Gênica , Células-Tronco Hematopoéticas/imunologia , Humanos , Dados de Sequência Molecular , Alinhamento de Sequência , Análise de Sequência de DNA , Homologia de Sequência de Aminoácidos
SELEÇÃO DE REFERÊNCIAS
DETALHE DA PESQUISA