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1.
Bone Joint J ; 106-B(4): 394-400, 2024 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-38555952

RESUMO

Aims: The aims of this study were to assess quality of life after hip fractures, to characterize respondents to patient-reported outcome measures (PROMs), and to describe the recovery trajectory of hip fracture patients. Methods: Data on 35,206 hip fractures (2014 to 2018; 67.2% female) in the Norwegian Hip Fracture Register were linked to data from the Norwegian Patient Registry and Statistics Norway. PROMs data were collected using the EuroQol five-dimension three-level questionnaire (EQ-5D-3L) scoring instrument and living patients were invited to respond at four, 12, and 36 months post fracture. Multiple imputation procedures were performed as a model to substitute missing PROM data. Differences in response rates between categories of covariates were analyzed using chi-squared test statistics. The association between patient and socioeconomic characteristics and the reported EQ-5D-3L scores was analyzed using linear regression. Results: The median age was 83 years (interquartile range 76 to 90), and 3,561 (10%) lived in a healthcare facility. Observed mean pre-fracture EQ-5D-3L index score was 0.81 (95% confidence interval 0.803 to 0.810), which decreased to 0.66 at four months, to 0.70 at 12 months, and to 0.73 at 36 months. In the imputed datasets, the reduction from pre-fracture was similar (0.15 points) but an improvement up to 36 months was modest (0.01 to 0.03 points). Patients with higher age, male sex, severe comorbidity, cognitive impairment, lower income, lower education, and those in residential care facilities had a lower proportion of respondents, and systematically reported a lower health-related quality of life (HRQoL). The response pattern of patients influenced scores significantly, and the highest scores are found in patients reporting scores at all observation times. Conclusion: Hip fracture leads to a persistent reduction in measured HRQoL, up to 36 months. The patients' health and socioeconomic status were associated with the proportion of patients returning PROM data for analysis, and affected the results reported. Observed EQ-5D-3L scores are affected by attrition and selection bias mechanisms and motivate the use of statistical modelling for adjustment.


Assuntos
Fraturas do Quadril , Qualidade de Vida , Humanos , Masculino , Feminino , Idoso de 80 Anos ou mais , Qualidade de Vida/psicologia , Fraturas do Quadril/cirurgia , Fraturas do Quadril/complicações , Medidas de Resultados Relatados pelo Paciente , Noruega/epidemiologia , Inquéritos e Questionários
2.
Res Health Serv Reg ; 3(1): 8, 2024 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-39177854

RESUMO

PURPOSE: The aim of this study was to examine geographic and socioeconomic variation in curative treatment and choice of treatment modality among elderly prostate cancer (PCa) patients. METHODS: This register-based cohort study included all Norwegian men ≥ 70 years when diagnosed with non-metastatic, high-risk PCa in 2011-2020 (n = 10 807). Individual data were obtained from the Cancer Registry of Norway, the Norwegian Prostate Cancer Registry, and Statistics Norway. Multilevel logistic regression analysis was used to model variation across hospital referral areas (HRAs), incorporating clinical, demographic and socioeconomic factors. RESULTS: Overall, 5186 (48%) patients received curative treatment (radical prostatectomy (RP) (n = 1560) or radiotherapy (n = 3626)). Geographic variation was found for both curative treatment (odds ratio 0.39-2.19) and choice of treatment modality (odds ratio 0.10-2.45). Odds of curative treatment increased with increasing income and education, and decreased for patients living alone, and with increasing age and frailty. Patients with higher income had higher odds of receiving RP compared to radiotherapy. CONCLUSIONS: This study showed geographic and socioeconomic variation in treatment of elderly patients with non-metastatic, high-risk PCa, both in relation to overall curative treatment and choice of treatment modality. Further research is needed to explore clinical practices, the shared decision process and how socioeconomic factors influence the treatment of elderly patients with high-risk PCa.

3.
BMJ Open ; 14(6): e086428, 2024 Jun 06.
Artigo em Inglês | MEDLINE | ID: mdl-38844395

RESUMO

OBJECTIVES: The main objective of this study was to investigate the characteristics of patients receiving private community physiotherapy (PT) the first year after a hip fracture. Second, to determine whether utilisation of PT could improve health-related quality of life (HRQoL). METHODS: In an observational cohort study, 30 752 hip fractures from the Norwegian Hip Fracture Register were linked with data from Statistics Norway and the Norwegian Control and Payment of Health Reimbursements Database. Association between covariates and utilisation of PT in the first year after fracture, the association between covariates and EQ-5D index score and the probability of experiencing 'no problems' in the five dimensions of the EQ-5D were assessed with multiple logistic regression models. RESULTS: Median age was 81 years, and 68.4% were females. Most patients with hip fracture (57.7%) were classified as American Society of Anesthesiologists classes 3-5, lived alone (52.4%), and had a low or medium level of education (85.7%). In the first year after injury, 10 838 of 30 752 patients with hip fracture (35.2%) received PT. Lower socioeconomic status (measured by income and level of education), male sex, increasing comorbidity, presence of cognitive impairment and increasing age led to a lower probability of receiving postoperative PT. Among those who used PT, EQ-5D index score was 0.061 points (p<0.001) higher than those who did not. Correspondingly, the probability of having 'no problems' in three of the five dimensions of EQ-5D was greater. CONCLUSIONS: A minority of the patients with hip fracture had access to private PT the first year after injury. This may indicate a shortcoming in the provision of beneficial post-surgery rehabilitative care reducing post-treatment HRQoL. The findings underscore the need for healthcare policies that address disparities in PT access, particularly for elderly patients, those with comorbidities and reduced health, and those with lower socioeconomic status.


Assuntos
Fraturas do Quadril , Modalidades de Fisioterapia , Qualidade de Vida , Sistema de Registros , Humanos , Feminino , Masculino , Fraturas do Quadril/reabilitação , Noruega/epidemiologia , Idoso de 80 Anos ou mais , Idoso , Acessibilidade aos Serviços de Saúde/estatística & dados numéricos
4.
BMJ Open ; 14(2): e081301, 2024 Feb 17.
Artigo em Inglês | MEDLINE | ID: mdl-38367969

RESUMO

OBJECTIVES: This study aimed to investigate determinants of reperfusion within recommended time limits (timely reperfusion) for ST-segment elevation myocardial infarction patients, exploring the impact of geography, patient characteristics and socio-economy. DESIGN: National register-based cohort study. SETTING: Multilevel logistic regression models were applied to examine the associations between timely reperfusion and residency in hospital referral areas and municipalities, patient characteristics, and socio-economy. PARTICIPANTS: 7607 Norwegian ST-segment elevation myocardial infarction patients registered in the Norwegian Registry of Myocardial Infarction during 2015-2018. MAIN OUTCOME MEASURES: The odds of timely reperfusion by primary percutaneous coronary intervention (PCI) or fibrinolysis. RESULTS: Among 7607 ST-segment elevation myocardial infarction patients in Norway, 56% received timely reperfusion. The Norwegian goal is 85%. While 81% of the patients living in the Oslo hospital referral area received timely reperfusion, only 13% of the patients living in Finnmark did so.Patients aged 75-84 years had lower odds of timely reperfusion than patients below 55 years of age (OR 0.73, 95% CI 0.61 to 0.87). Patients with moderate or high comorbidity had lower odds than patients without (OR 0.81, 95% CI 0.68 to 0.95 and OR 0.61, 95% CI 0.44 to 0.84). More than 2 hours from symptom onset to first medical contact gave lower odds than less than 30 min (OR 0.63, 95% CI 0.54 to 0.72). 1-2 hours of travel time to a PCI centre (OR 0.39, 95% CI 0.31 to 0.49) and more than 2 hours (OR 0.22, 95% CI 0.16 to 0.30) gave substantially lower odds than less than 1 hour of travel time. CONCLUSIONS: The varying proportion of patients receiving timely reperfusion across hospital referral areas implies inequity in fundamental healthcare services, not compatible with established Norwegian health policy. The importance of travel time to PCI centre points at the expanded use of prehospital pharmacoinvasive strategy to obtain the goals of timely reperfusion in Norway.


Assuntos
Infarto do Miocárdio , Intervenção Coronária Percutânea , Infarto do Miocárdio com Supradesnível do Segmento ST , Humanos , Pessoa de Meia-Idade , Estudos de Coortes , Resultado do Tratamento , Infarto do Miocárdio com Supradesnível do Segmento ST/epidemiologia , Infarto do Miocárdio com Supradesnível do Segmento ST/cirurgia , Infarto do Miocárdio/epidemiologia , Infarto do Miocárdio/terapia , Reperfusão , Sistema de Registros , Reperfusão Miocárdica
5.
Bone Joint J ; 104-B(7): 884-893, 2022 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-35775181

RESUMO

AIMS: This study aimed to identify risk factors (patient, healthcare system, and socioeconomic) for mortality after hip fractures and estimate their relative importance. Further, we aimed to elucidate mortality and survival patterns following fractures and the duration of excess mortality. METHODS: Data on 37,394 hip fractures in the Norwegian Hip Fracture Register from January 2014 to December 2018 were linked to data from the Norwegian Patient Registry, Statistics Norway, and characteristics of acute care hospitals. Cox regression analysis was performed to estimate risk factors associated with mortality. The Wald statistic was used to estimate and illustrate relative importance of risk factors, which were categorized in modifiable (healthcare-related) and non-modifiable (patient-related and socioeconomic). We calculated standardized mortality ratios (SMRs) comparing deaths among hip fracture patients to expected deaths in a standardized reference population. RESULTS: Mean age was 80.2 years (SD 11.4) and 67.5% (n = 25,251) were female. Patient factors (male sex, increasing comorbidity (American Society of Anesthesiologists grade and Charlson Comorbidity Index)), socioeconomic factors (low income, low education level, living in a healthcare facility), and healthcare factors (hip fracture volume, availability of orthogeriatric services) were associated with increased mortality. Non-modifiable risk factors were more strongly associated with mortality than modifiable risk factors. The SMR analysis suggested that cumulative excess mortality among hip fracture patients was 16% in the first year and 41% at six years. SMR was 2.48 for the six-year observation period, most pronounced in the first year, and fell from 10.92 in the first month to 3.53 after 12 months and 2.48 after six years. Substantial differences in median survival time were found, particularly for patient-related factors. CONCLUSION: Socioeconomic, patient-, and healthcare-related factors all contributed to excess mortality, and non-modifiable factors had stronger association than modifiable ones. Hip fractures contributed to substantial excess mortality. Apparently small survival differences translate into substantial disparity in median survival time in this elderly population. Cite this article: Bone Joint J 2022;104-B(7):884-893.


Assuntos
Fraturas do Quadril , Idoso , Idoso de 80 Anos ou mais , Comorbidade , Feminino , Humanos , Masculino , Noruega/epidemiologia , Fatores de Risco
6.
Bone Jt Open ; 2(9): 710-720, 2021 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-34472378

RESUMO

AIMS: This study aimed to describe preoperative waiting times for surgery in hip fracture patients in Norway, and analyze factors affecting waiting time and potential negative consequences of prolonged waiting time. METHODS: Overall, 37,708 hip fractures in the Norwegian Hip Fracture Register from January 2014 to December 2018 were linked with data in the Norwegian Patient Registry. Hospitals treating hip fractures were characterized according to their hip fracture care. Waiting time (hours from admission to start of surgery), surgery within regular working hours, and surgery on the day of or on the day after admission, i.e. 'expedited surgery' were estimated. RESULTS: Mean waiting time was 22.6 hours (SD 20.7); 36,652 patients (97.2%) waited less than three days (< 72 hours), and 27,527 of the patients (73%) were operated within regular working hours (08:00 to 16:00). Expedited surgery was given to 31,675 of patients (84%), and of these, 19,985 (53%) were treated during regular working hours. Patients classified as American Society of Anesthesiologists (ASA) classes 4 and 5 were more likely to have surgery within regular working hours (odds ratio (OR) 1.59; p < 0.001), and less likely to receive expedited surgery than ASA 1 patients (OR 0.29; p < 0.001). Low-volume hospitals treated a larger proportion of patients during regular working hours than high volume hospitals (OR 1.26; p < 0.001). High-volume hospitals had less expedited surgery and significantly longer waiting times than low and intermediate-low volume hospitals. Higher ASA classes and Charlson Comorbidity Index increased waiting time. Patients not receiving expedited surgery had higher 30-day and one-year mortality rates (OR 1.19; p < 0.001) and OR 1.13; p < 0.001), respectively. CONCLUSION: There is inequality in waiting time for hip fracture treatment in Norway. Variations in waiting time from admission to hip fracture surgery depended on both patient and hospital factors. Not receiving expedited surgery was associated with increased 30-day and one-year mortality rates. Cite this article: Bone Jt Open 2021;2(9):710-720.

7.
Am Heart J ; 159(5): 730-736.e2, 2010 May.
Artigo em Inglês | MEDLINE | ID: mdl-20435179

RESUMO

Carotid intima media thickness (IMT) progression is increasingly used as a surrogate for vascular risk. This use is supported by data from a few clinical trials investigating statins, but established criteria of surrogacy are only partially fulfilled. To provide a valid basis for the use of IMT progression as a study end point, we are performing a 3-step meta-analysis project based on individual participant data. Objectives of the 3 successive stages are to investigate (1) whether IMT progression prospectively predicts myocardial infarction, stroke, or death in population-based samples; (2) whether it does so in prevalent disease cohorts; and (3) whether interventions affecting IMT progression predict a therapeutic effect on clinical end points. Recruitment strategies, inclusion criteria, and estimates of the expected numbers of eligible studies are presented along with a detailed analysis plan.


Assuntos
Artérias Carótidas/patologia , Metanálise como Assunto , Medição de Risco/métodos , Túnica Íntima/patologia , Doenças das Artérias Carótidas/epidemiologia , Humanos , Estudos Multicêntricos como Assunto , Infarto do Miocárdio/epidemiologia , Valor Preditivo dos Testes , Projetos de Pesquisa , Acidente Vascular Cerebral/epidemiologia
8.
Bone Jt Open ; 1(10): 644-653, 2020 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-33215096

RESUMO

AIMS: The aim of this study was to describe variation in hip fracture treatment in Norway expressed as adherence to international and national evidence-based treatment guidelines, to study factors influencing deviation from guidelines, and to analyze consequences of non-adherence. METHODS: International and national guidelines were identified and treatment recommendations extracted. All 43 hospitals routinely treating hip fractures in Norway were characterized. From the Norwegian Hip Fracture Register (NHFR), hip fracture patients aged > 65 years and operated in the period January 2014 to December 2018 for fractures with conclusive treatment guidelines were included (n = 29,613: femoral neck fractures (n = 21,325), stable trochanteric fractures (n = 5,546), inter- and subtrochanteric fractures (n = 2,742)). Adherence to treatment recommendations and a composite indicator of best practice were analyzed. Patient survival and reoperations were evaluated for each recommendation. RESULTS: Median age of the patients was 84 (IQR 77 to 89) years and 69% (20,427/29,613) were women. Overall, 79% (23,390/29,613) were treated within 48 hours, and 80% (23,635/29,613) by a surgeon with more than three years' experience. Adherence to guidelines varied substantially but was markedly better in 2018 than in 2014. Having a dedicated hip fracture unit (OR 1.06, 95%CI 1.01 to 1.11) and a hospital hip fracture programme (OR 1.16, 95% CI 1.06 to 1.27) increased the probability of treatment according to best practice. Surgery after 48 hours increased one-year mortality significantly (OR 1.13, 95% CI 1.05 to 1.22; p = 0.001). Alternative treatment to arthroplasty for displaced femoral neck fractures (FNFs) increased mortality after 30 days (OR 1.29, 95% CI 1.03 to 1.62)) and one year (OR 1.45, 95% CI 1.22 to 1.72), and also increased the number of reoperations (OR 4.61, 95% CI 3.73 to 5.71). An uncemented stem increased the risk of reoperation significantly (OR 1.23, 95% CI 1.02 to 1.48; p = 0.030). CONCLUSION: Our study demonstrates a substantial variation between hospitals in adherence to evidence-based guidelines for treatment of hip fractures in Norway. Non-adherence can be ascribed to in-hospital factors. Poor adherence has significant negative consequences for patients in the form of increased mortality rates at 30 and 365 days post-treatment and in reoperation rates.Cite this article: Bone Joint Open 2020;1-10:644-653.

9.
Am J Epidemiol ; 169(3): 330-8, 2009 Feb 01.
Artigo em Inglês | MEDLINE | ID: mdl-19066307

RESUMO

In a cross-sectional, population-based study in Tromsø, Norway, the authors investigated correlations between lumen diameter in the right common carotid artery (CCA) and the diameters of the femoral artery and abdominal aorta and whether CCA lumen diameter was a risk factor for abdominal aortic aneurysm (AAA). Ultrasonography was performed in 6,400 men and women aged 25-84 years during 1994-1995. An AAA was considered present if the aortic diameter at the level of renal arteries was greater than or equal to 35 mm, the infrarenal aortic diameter was greater than or equal to 5 mm larger than the diameter of the level of renal arteries, or a localized dilation of the aorta was present. CCA lumen diameter was positively correlated with abdominal aortic diameter (r = 0.3, P < 0.01) and femoral artery diameter (r = 0.2, P < 0.01). In a multivariable adjusted model, CCA lumen diameter was a significant predictor of AAA in both men and women (for the fifth quintile vs. the third, odds ratios were 1.9 (95% confidence interval: 1.2, 2.9) and 4.1 (95% confidence interval: 1.5, 10.8), respectively). Thus, CCA lumen diameter was positively correlated with femoral and abdominal aortic artery diameter and was an independent risk factor for AAA.


Assuntos
Aorta Abdominal/diagnóstico por imagem , Aorta Abdominal/patologia , Aneurisma da Aorta Abdominal/diagnóstico por imagem , Aneurisma da Aorta Abdominal/patologia , Artéria Carótida Primitiva/diagnóstico por imagem , Artéria Carótida Primitiva/patologia , Idoso , Aneurisma da Aorta Abdominal/epidemiologia , Comorbidade , Estudos Transversais , Diabetes Mellitus/epidemiologia , Dilatação Patológica/diagnóstico por imagem , Dilatação Patológica/epidemiologia , Dilatação Patológica/patologia , Suscetibilidade a Doenças/diagnóstico por imagem , Suscetibilidade a Doenças/epidemiologia , Suscetibilidade a Doenças/patologia , Feminino , Artéria Femoral/diagnóstico por imagem , Artéria Femoral/patologia , Transtornos Hemorrágicos/diagnóstico por imagem , Transtornos Hemorrágicos/epidemiologia , Transtornos Hemorrágicos/patologia , Humanos , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Fatores de Risco , Fumar/epidemiologia , Ultrassonografia
10.
Thyroid ; 18(1): 21-5, 2008 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-17985996

RESUMO

BACKGROUND: Increased arterial wall intima-media thickness (IMT) is an early feature of atherosclerosis and has been reported to be altered in patients with thyroid dysfunction. The present study was performed to examine the relation between carotid artery intima-media thickness and possible variations in thyroid function in normal subjects using serum TSH as a surrogate index of thyroid function. DESIGN: A total of 2034 subjects (974 males) were studied, 1856 or whom were non-users of thyroxine. The subjects not taking thyroxine were classified into three groups, those with a low serum TSH (0.48 mIU/L (2.5 percentile, those with serum TSH from 0.48 to 4.16 mIU/L, and those with high serum TSH of >4.16 mIU/L (97.5 percentile). Carotid ultrasound was performed in each all 2034 subjects to determine IMT. RESULTS: Among those not taking thyroxine, subjects in the low serum TSH group had a higher mean IMT as compared to those in the normal and high serum TSH groups but the differences were not significant when adjusted for gender, age, smoking status, body mass index, systolic blood pressure and serum cholesterol (0.88 +/- 0.15 mm, 0.84 +/- 0.16 mm, and 0.84 +/- 0.24 mm respectively). Subjects taking thyroxine had significantly higher IMT than those not taking thyroxine (0.89 + 0.20 mm versus 0.84 + 0.17 mm, p<0.01). CONCLUSIONS: No significant relationship between carotid IMT and serum TSH levels was observed in normal, non thyroxine taking, subjects. Carotid IMT was increased in subjects taking thyroxine. Whether the increase in carotid IMT is due to thyroxine ingestion or underlying thyroid disease cannot be answered from the study.


Assuntos
Artérias Carótidas/patologia , Tireotropina/sangue , Túnica Íntima/patologia , Túnica Média/patologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças Cardiovasculares/sangue , Doenças Cardiovasculares/patologia , Artérias Carótidas/diagnóstico por imagem , Estudos de Coortes , Feminino , Humanos , Modelos Lineares , Masculino , Pessoa de Meia-Idade , Noruega , Túnica Íntima/diagnóstico por imagem , Túnica Média/diagnóstico por imagem , Ultrassonografia Doppler de Pulso
11.
Stroke ; 38(11): 2873-80, 2007 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-17901390

RESUMO

BACKGROUND AND PURPOSE: Ultrasound of carotid arteries provides measures of intima media thickness (IMT) and plaque, both widely used as surrogate measures of cardiovascular disease. Although IMT and plaques are highly intercorrelated, the relationship between carotid plaque and IMT and cardiovascular disease has been conflicting. In this prospective, population-based study, we measured carotid IMT, total plaque area, and plaque echogenicity as predictors for first-ever myocardial infarction (MI). METHODS: IMT, total plaque area, and plaque echogenicity were measured in 6226 men and women aged 25 to 84 years with no previous MI. The subjects were followed for 6 years and incident MI was registered. RESULTS: During follow-up, MI occurred in 6.6% of men and 3.0% of women. The adjusted relative risk (RR; 95% CI) between the highest plaque area tertile versus no plaque was 1.56 (1.04 to 2.36) in men and 3.95 (2.16 to 7.19) in women. In women, there was a significant trend toward a higher MI risk with more echolucent plaque. The adjusted RR (95% CI) in the highest versus lowest IMT quartile was 1.73 (0.98 to 3.06) in men and 2.86 (1.07 to 7.65) in women. When we excluded bulb IMT from analyses, IMT did not predict MI in either sex. CONCLUSIONS: In a general population, carotid plaque area was a stronger predictor of first-ever MI than was IMT. Carotid atherosclerosis was a stronger risk factor for MI in women than in men. In women, the risk of MI increased with plaque echolucency.


Assuntos
Artérias Carótidas/diagnóstico por imagem , Artérias Carótidas/patologia , Doenças das Artérias Carótidas/diagnóstico por imagem , Doenças das Artérias Carótidas/epidemiologia , Infarto do Miocárdio/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Doenças das Artérias Carótidas/patologia , Artéria Carótida Primitiva/diagnóstico por imagem , Artéria Carótida Primitiva/patologia , Artéria Carótida Interna/diagnóstico por imagem , Artéria Carótida Interna/patologia , HDL-Colesterol , Estudos de Coortes , Comorbidade , Feminino , Seguimentos , Humanos , Incidência , Estimativa de Kaplan-Meier , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Noruega/epidemiologia , Valor Preditivo dos Testes , Estudos Prospectivos , Fatores de Risco , Distribuição por Sexo , Fatores Sexuais , Túnica Íntima/diagnóstico por imagem , Túnica Íntima/patologia , Ultrassonografia
12.
Neuromuscul Disord ; 27(7): 619-626, 2017 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-28479227

RESUMO

Limb girdle muscular dystrophy type 2I (LGMD2I) is a progressive disorder caused by mutations in the FuKutin-Related Protein gene (FKRP). LGMD2I displays clinical heterogeneity with onset of severe symptoms in early childhood to mild calf and thigh hypertrophy in the second or third decade. Patients homozygous for the common FKRP mutation c.826C>A (p.Leu276Ile) show phenotypes within the milder end of the clinical spectrum. However, this group also manifests substantial clinical variability. FKRP deficiency causes hypoglycosylation of α-dystroglycan; a component of the dystrophin associated glycoprotein complex. α-Dystroglycan hypoglycosylation is associated with loss of interaction with laminin α2, which in turn results in laminin α2 depletion. Here, we have attempted to clarify if the clinical variability seen in patients homozygous for c.826C>A is related to alterations in muscle fibre pathology, α-DG glycosylation levels, levels of laminin α2 as well as the capacity of α-DG to bind to laminin. We have assessed vastus lateralis muscle biopsies from 25 LGMD2I patients harbouring the c.826C>A/c.826C>A genotype by histological examination, immunohistochemistry and immunoblotting. No clear correlation was found between clinical severity, as determined by self-reported walking function, and the above features, suggesting that more complex molecular processes are contributing to the progression of disease.


Assuntos
Distroglicanas/metabolismo , Distrofia Muscular do Cíngulo dos Membros , Mutação/genética , Proteínas/genética , Adolescente , Adulto , Criança , Análise Mutacional de DNA , Feminino , Glicosilação , Humanos , Laminina/metabolismo , Masculino , Pessoa de Meia-Idade , Músculo Esquelético/metabolismo , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/metabolismo , Distrofia Muscular do Cíngulo dos Membros/patologia , Pentosiltransferases , Adulto Jovem
13.
Diabetes Care ; 38(10): 1921-9, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26180107

RESUMO

OBJECTIVE: Carotid intima-media thickness (CIMT) is a marker of subclinical organ damage and predicts cardiovascular disease (CVD) events in the general population. It has also been associated with vascular risk in people with diabetes. However, the association of CIMT change in repeated examinations with subsequent CVD events is uncertain, and its use as a surrogate end point in clinical trials is controversial. We aimed at determining the relation of CIMT change to CVD events in people with diabetes. RESEARCH DESIGN AND METHODS: In a comprehensive meta-analysis of individual participant data, we collated data from 3,902 adults (age 33-92 years) with type 2 diabetes from 21 population-based cohorts. We calculated the hazard ratio (HR) per standard deviation (SD) difference in mean common carotid artery intima-media thickness (CCA-IMT) or in CCA-IMT progression, both calculated from two examinations on average 3.6 years apart, for each cohort, and combined the estimates with random-effects meta-analysis. RESULTS: Average mean CCA-IMT ranged from 0.72 to 0.97 mm across cohorts in people with diabetes. The HR of CVD events was 1.22 (95% CI 1.12-1.33) per SD difference in mean CCA-IMT, after adjustment for age, sex, and cardiometabolic risk factors. Average mean CCA-IMT progression in people with diabetes ranged between -0.09 and 0.04 mm/year. The HR per SD difference in mean CCA-IMT progression was 0.99 (0.91-1.08). CONCLUSIONS: Despite reproducing the association between CIMT level and vascular risk in subjects with diabetes, we did not find an association between CIMT change and vascular risk. These results do not support the use of CIMT progression as a surrogate end point in clinical trials in people with diabetes.


Assuntos
Diabetes Mellitus Tipo 2/diagnóstico por imagem , Angiopatias Diabéticas/diagnóstico por imagem , Adulto , Idoso , Idoso de 80 Anos ou mais , Aterosclerose/diagnóstico por imagem , Artéria Carótida Primitiva/diagnóstico por imagem , Espessura Intima-Media Carotídea , Comportamento Cooperativo , Progressão da Doença , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Fatores de Risco
14.
Neuromuscul Disord ; 23(1): 29-35, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22967790

RESUMO

In this case-control study we assessed the clinical impact of persistent hyperCKemia in a Norwegian general population. HyperCKemia was defined according to the NORIP- references (women 35-210 U/L, men <50 years 50-400 U/L, and men ≥50 years 40-280 U/L). We compared the frequency of muscular symptoms and function, neuromuscular diseases and risk factors between 120 cases with persistent hyperCKemia and 130 age- and sex-matched controls with normal CK values, all recruited from the single-centre, population-based prospective Tromsø Study. The participants underwent a standardized interview assessing muscle symptoms, physical activity, use of statins and presence of other CK risk factors, prior to clinical neurological and neurophysiological examination. Knee extensor muscle strength (Cybex NORM dynamometer) and dominant hand grip strength (Martin Vigorimeter) was assessed. A total of 85 cases (71%) reported either muscle pain, muscle stiffness or cramps, compared to 70 controls (54%) (p=0.017) There were no differences in muscle strength between the groups. In men, weight, Body Mass Index and muscle symptoms were significantly higher in the group with persistent hyperCKemia. In women, no differences between the groups were detected. Use of statins was similar in cases and controls. We diagnosed 3 women with previously unknown myopathy, all in the group with persistent hyperCKemia. This study support that CK may be used as a marker of muscular symptoms in the general population.


Assuntos
Creatina Quinase/sangue , Doenças Neuromusculares/etnologia , Doenças Neuromusculares/epidemiologia , Adulto , Idoso , Idoso de 80 Anos ou mais , Biomarcadores/sangue , Estudos de Casos e Controles , Método Duplo-Cego , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Força Muscular/fisiologia , Músculo Esquelético/fisiologia , Noruega/epidemiologia , Fatores de Risco
15.
Neuromuscul Disord ; 21(1): 41-6, 2011 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-20961759

RESUMO

Mutations in the FKRP (Fukutin Related Protein) gene produce a range of phenotypes including Limb Girdle Muscular Dystrophy Type 2I (LGMD2I). In order to investigate the prevalence, the mutation spectrum and possible genotype-phenotype correlation, we studied a cohort of Norwegian patients with LGMD2I, ascertained in a 4-year period. In this retrospective study of genetically tested patients, we identified 88 patients from 69 families, who were either homozygous or compound heterozygous for FKRP mutations. This gives a minimum prevalence of 1/54,000 and a corresponding carrier frequency of 1/116 in the Norwegian population. Seven different FKRP mutations, including three novel changes, were detected. Seventy-six patients were homozygous for the common c.826C>A mutation. These patients had later disease onset than patients who were compound heterozygous - 14.0 vs. 6.1 years. We detected substantial variability in disease severity among homozygous patients.


Assuntos
Distrofia Muscular do Cíngulo dos Membros , Mutação/genética , Fenótipo , Proteínas/genética , Adulto , Idade de Início , Saúde da Família , Feminino , Estudos de Associação Genética , Humanos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Distrofia Muscular do Cíngulo dos Membros/epidemiologia , Distrofia Muscular do Cíngulo dos Membros/genética , Distrofia Muscular do Cíngulo dos Membros/fisiopatologia , Noruega/epidemiologia , Pentosiltransferases , Prevalência , Estudos Retrospectivos , Adulto Jovem
16.
Neuromuscul Disord ; 21(7): 494-500, 2011 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-21592795

RESUMO

In this cross-sectional study we assessed the prevalence of hyperCKemia, defined as persistent CK values ≥210 U/L in women, ≥400 U/L in men <50 years and ≥280 U/L in men ≥50 years (reference values according to the Nordic Reference Interval Project). Blood samples were obtained from 12,828 participants in the 6th survey of The Tromsø Study. We identified 686 (5.3%) individuals with incidentally elevated CK. After a standardized control test, 169 persons (1.3%) had persistent hyperCKemia, i.e. 69.9% normalization. Use of statins or other causes of hyperCKemia were detected in 78 individuals (46.2%), giving a prevalence of "idiopathic hyperCKemia" of 0.71%. CK variation was highest in younger men and in females between 60 and 69 years. This study has identified persistent hyperCKemia in 1.3% of the normal population, and demonstrates the importance of performing controlled CK analyses, also in those with identified risk factors.


Assuntos
Creatina Quinase/sangue , Adulto , Idoso , Idoso de 80 Anos ou mais , Estudos Transversais , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Noruega , Prevalência , Valores de Referência , População Branca
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