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1.
Drugs Aging ; 35(2): 153-161, 2018 02.
Artigo em Inglês | MEDLINE | ID: mdl-29396715

RESUMO

BACKGROUND: Delirium in older hospitalised patients is a common and serious disorder. Polypharmacy and certain medications are risk factors for developing delirium. A medication review could benefit older hospitalised patients with delirium. OBJECTIVES: (1) Evaluate the effects of medication review on length of delirium, length of hospital stay, mortality, and discharge destination; and (2) describe and analyse the proposed changes to medication and its implementation by the treating physician. SETTING: The study was conducted at Maastricht University Medical Centre+. METHODS: We compared two cohorts of older patients with delirium: the first cohort from before introducing the medication review, and a second cohort 5 months after introduction of the medication review. Data were extracted from the patients' digital medical records. RESULTS: A significant interaction effect of cohort and number of medications taken by the patient was found for duration of delirium: patients from the second cohort taking between zero and six medications had significantly shorter delirious episodes than patients in the first cohort. This effect bordered on significance for patients taking between seven and 11 medications, but disappeared for patients taking 12 or more medications. No other statistically significant differences were found between the cohorts. The proposed changes in medication were implemented for 71% of the patients. CONCLUSION: A medication review seems to significantly decrease the length of an older patient's delirious episode. Given the clinical relevance of these findings, we advise medication reviews for all older patients who are delirious or are at risk of developing delirium.


Assuntos
Delírio/prevenção & controle , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/prevenção & controle , Registros Eletrônicos de Saúde/normas , Polimedicação , Idoso , Idoso de 80 Anos ou mais , Delírio/epidemiologia , Efeitos Colaterais e Reações Adversas Relacionados a Medicamentos/epidemiologia , Feminino , Avaliação Geriátrica , Humanos , Tempo de Internação/tendências , Masculino , Países Baixos , Alta do Paciente/normas , Pacientes , Estudos Retrospectivos , Fatores de Risco
2.
J Crohns Colitis ; 9(10): 837-45, 2015 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-26188352

RESUMO

BACKGROUND AND AIMS: In the past decades, treatment options and strategies for ulcerative colitis [UC] have radically changed. Whether these developments have altered the disease outcome at population level is yet unknown. Therefore, we evaluated the disease outcome of UC over the past two decades in the South-Limburg area of The Netherlands. METHODS: In the Dutch population-based IBDSL cohort, three time cohorts were defined: cohort 1991-1997 [cohort A], cohort 1998-2005 [cohort B], and cohort 2006-2010 [cohort C]. The colectomy and hospitalisation rates were compared between cohorts by Kaplan-Meier survival analyses. Hazard ratios [HR] for early colectomy [within 6 months after diagnosis], late colectomy [beyond 6 months after diagnosis], and hospitalisation were calculated using Cox regression models. RESULTS: In total, 476 UC patients were included in cohort A, 587 patients in cohort B, and 598 patients in cohort C. Over time, an increase in the use of immunomodulators [8.1%, 22.8% and 21.7%, respectively, p < 0.01] and biological agents [0%, 4.3% and 10.6%, respectively, p < 0.01] was observed. The early colectomy rate decreased from 1.5% in cohort A to 0.5% in cohort B [HR 0.14; 95% confidence interval 0.04-0.47], with no further decrease in cohort C [0.3%, HR 0.98; 95% confidence interval 0.20-4.85]. Late colectomy rate remained unchanged over time [4.0% vs 5.2% vs 3.6%, respectively, p = 0.54]. Hospitalisation rate was also similar among cohorts [22.3% vs 19.5% vs 18.3%, respectively, p = 0.10]. CONCLUSION: Over the past two decades, a reduction in early colectomy rate was observed, with no further reduction in the most recent era. Late colectomy rate and hospitalisation rate remained unchanged over time.


Assuntos
Colectomia , Colite Ulcerativa/terapia , Hospitalização , Fatores Imunológicos/uso terapêutico , Adulto , Estudos de Coortes , Colite Ulcerativa/complicações , Colite Ulcerativa/diagnóstico , Feminino , Humanos , Estimativa de Kaplan-Meier , Masculino , Pessoa de Meia-Idade , Países Baixos , Modelos de Riscos Proporcionais , Fatores de Tempo , Resultado do Tratamento
3.
Obes Surg ; 25(5): 860-78, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-25697125

RESUMO

Pubmed, Embase, and Cochrane were systematically reviewed for available evidence on bariatric surgery in adolescents. Thirty-seven included studies evaluated the effect of laparoscopic adjustable gastric banding (LAGB), Roux-en-Y gastric bypass (RYGB), or laparoscopic sleeve gastrectomy (LSG) in patients ≤18 years old. Fifteen of 37 studies were prospective, including one RCT. Mean body mass index (BMI) loss after LAGB was 11.6 kg/m(2) (95% CI 9.8-13.4), versus 16.6 kg/m(2) (95% CI 13.4-19.8) after RYGB and 14.1 kg/m(2) (95% CI 10.8-17.5) after LSG. Two unrelated deaths were reported after 495 RYGB procedures. All three bariatric procedures result in substantial weight loss and improvement of comorbidity with an acceptable complication rate, indicating that surgical intervention is applicable in appropriately selected morbidly obese adolescents.


Assuntos
Cirurgia Bariátrica , Adolescente , Índice de Massa Corporal , Comorbidade , Gastrectomia/métodos , Derivação Gástrica/métodos , Gastroplastia/métodos , Humanos , Laparoscopia/métodos , Obesidade Mórbida/epidemiologia , Obesidade Mórbida/psicologia , Obesidade Mórbida/cirurgia , Estudos Prospectivos , Resultado do Tratamento , Redução de Peso
4.
Patient Educ Couns ; 93(2): 289-97, 2013 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-23992914

RESUMO

OBJECTIVE: This study tests whether using a screening instrument improves referral to psychosocial care providers (e.g. psychologist) and facilitates patient-radiotherapist communication. METHODS: A cluster randomized controlled trial was used. Fourteen radiotherapists were randomly allocated to the experimental or control group and 568 of their patients received care in accordance with the group to which their radiotherapist was allocated. Patients in the experimental group were asked to complete a screening instrument before and at the end of the radiation treatment period. All patients were requested to complete questionnaires concerning patient-physician communication after the first consultation and concerning psychosocial care 3 and 12 months post-intervention. RESULTS: Patients who completed the screening instrument were referred to social workers at an earlier stage than patients who did not (P<0.01). No effects were observed for numbers of referred patients, or for improved patient-radiotherapist communication. CONCLUSIONS: Our results suggest that a simple screening procedure can be valuable for the timely treatment of psychosocial problems in patients. Future efforts should be directed at appropriate timing of screening and enhancing physicians' awareness regarding the importance of identifying, discussing and treating psychosocial problems in cancer patients. PRACTICE IMPLICATIONS: Psychosocial screening can be enhanced by effective radiotherapist-patient communication.


Assuntos
Comunicação , Neoplasias/diagnóstico por imagem , Neoplasias/psicologia , Relações Médico-Paciente , Encaminhamento e Consulta/estatística & dados numéricos , Análise por Conglomerados , Feminino , Humanos , Masculino , Programas de Rastreamento/métodos , Pessoa de Meia-Idade , Países Baixos , Radiografia , Serviço Social , Inquéritos e Questionários
5.
Psychooncology ; 22(12): 2736-46, 2013 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-23824561

RESUMO

OBJECTIVE: This study examined the short-term and long-term effects of using a screening instrument on psychological distress and health-related quality of life (HRQoL) among cancer patients receiving radiotherapy. In addition, we investigated the effect of early psychosocial treatment on patients' overall health-related outcomes as previous research showed that patients in the screening condition were referred to a psychosocial caregiver at an earlier stage. METHODS: A cluster randomised controlled trial with a randomisation at the levels of 14 radiotherapists, 568 patients was conducted. Patients were asked to complete questionnaires at 3 and 12 months follow-up. RESULTS: Mixed models analyses showed no significant intervention effects on patients' overall extent of psychosocial distress and HRQoL, both on the short and long terms. Post-hoc analyses revealed significant interactions of the intervention with early referral and improved HRQoL and anxiety, suggesting that earlier referral might influence short-term HRQoL and experienced anxiety in patients. CONCLUSIONS: Our results suggest that the use of a psychosocial screening instrument among patients receiving radiotherapy in itself does not sufficiently improve patients' health-related outcome. The effective delivery of psychosocial care depends upon several components such as identification of distress and successful implementation of screening procedures. One of the challenges is to get insight in the effects of early referral of cancer patients for psychosocial support because early referral might have a favourable effect on some of the patients' health-related outcomes.


Assuntos
Ansiedade/diagnóstico , Depressão/diagnóstico , Neoplasias/psicologia , Qualidade de Vida/psicologia , Estresse Psicológico/diagnóstico , Idoso , Ansiedade/terapia , Depressão/terapia , Feminino , Humanos , Masculino , Programas de Rastreamento/psicologia , Pessoa de Meia-Idade , Neoplasias/radioterapia , Encaminhamento e Consulta/estatística & dados numéricos , Estresse Psicológico/terapia , Inquéritos e Questionários , Resultado do Tratamento
6.
PLoS One ; 7(12): e51194, 2012.
Artigo em Inglês | MEDLINE | ID: mdl-23236452

RESUMO

BACKGROUND: Hepatitis C virus (HCV) is a major cause of liver diseases worldwide. Due to its asymptomatic nature, screening is necessary for identification. Because screening of the total population is not cost effective, it is important to identify which risk factors for positivity characterize the key populations in which targeting of screening yields the highest numbers of HCV positives, and assess which of these key populations have remained hidden to current care. METHODS: Laboratory registry data (2002-2008) were retrieved for all HCV tests (23,800) in the south of the Netherlands (adult population 500,000). Screening trends were tested using Poisson regression and chi-square tests. Risk factors for HCV positivity were assessed using a logistic regression. The hidden HCV-positive population was estimated by a capture-recapture approach. RESULTS: The number of tests increased over time (2,388 to 4,149, p<.01). Nevertheless, the positivity rate among those screened decreased between 2002 and 2008 (6.3% to 2.1%, p<.01). The population prevalence was estimated to be 0.49% (95%CI 0.41-0.59). Of all HCV-positive patients, 66% were hidden to current screening practices. Risk factors associated with positivity were low socio-economic status, male sex, and age between 36-55. In future screening 48% (95%CI 37-63) of total patients and 47% (95%CI 32-70) of hidden patients can be identified by targeting 9% (men with low socio-economic status, between 36-55 years old) of the total population. CONCLUSIONS: Although the current HCV screening policy increasingly addresses high-risk populations, it only reaches one third of positive patients. This study shows that combining easily identifiable demographic risk factors can be used to identify key populations as a likely target for effective HCV screening. We recommend strengthening screening among middle-aged man, living in low socio-economic neighborhoods.


Assuntos
Hepatite C/epidemiologia , Programas de Rastreamento/métodos , Adulto , Fatores Etários , Humanos , Masculino , Pessoa de Meia-Idade , Países Baixos/epidemiologia , Distribuição de Poisson , Prevalência , Análise de Regressão , Fatores de Risco , Fatores Sexuais , Fatores Socioeconômicos
7.
Shock ; 37(1): 22-7, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-21941223

RESUMO

Loss of the gut barrier, which is related to hypotension and gastrointestinal hypoperfusion during surgery, has been implicated as a critical event in postoperative complications development. This study aims at preventing gut barrier loss by maintenance of mean arterial pressure (MAP) in patients undergoing major nonabdominal surgery. In 20 previously included children undergoing spinal fusion surgery, the critical MAP value, which should be maintained to prevent enterocyte damage, was determined. In the following 12 children, MAP was kept above the critical value during surgery. Gut mucosal barrier loss was assessed by plasma intestinal fatty acid-binding proteins levels, a marker for enterocyte damage. Gastrointestinal perfusion was measured by gastric tonometry. First, we determined that the MAP should be maintained greater than 60 mmHg to prevent enterocyte damage. Next, maintenance of the MAP above this critical value during surgery resulted in adequate intestinal perfusion and preservation of enterocyte integrity, represented by intestinal fatty acid-binding protein levels within the reference range. This study shows that maintenance of the MAP at greater than 60 mmHg is associated with adequate intestinal perfusion and reduced enterocyte loss in children undergoing major nonabdominal surgery. These data stress the importance and benefits of good circulatory management during major surgery.


Assuntos
Pressão Sanguínea , Eritrócitos/metabolismo , Circulação Extracorpórea , Proteínas de Ligação a Ácido Graxo/sangue , Cuidados Intraoperatórios , Fusão Vertebral , Adolescente , Biomarcadores/sangue , Criança , Pré-Escolar , Feminino , Humanos , Mucosa Intestinal/metabolismo , Intestinos/irrigação sanguínea , Masculino
8.
BMC Cancer ; 9: 177, 2009 Jun 09.
Artigo em Inglês | MEDLINE | ID: mdl-19508716

RESUMO

BACKGROUND: The Screening Inventory of Psychosocial Problems (SIPP) is a short, validated self-reported questionnaire to identify psychosocial problems in Dutch cancer patients. The one-page 24-item questionnaire assesses physical complaints, psychological complaints and social and sexual problems. Very little is known about the effects of using the SIPP in consultation settings. Our study aims are to test the hypotheses that using the SIPP (a) may contribute to adequate referral to relevant psychosocial caregivers, (b) should facilitate communication between radiotherapists and cancer patients about psychosocial distress and (c) may prevent underdiagnosis of early symptoms reflecting psychosocial problems. This paper presents the design of a cluster randomised controlled trial (CRCT) evaluating the effectiveness of using the SIPP in cancer patients treated with radiotherapy. METHODS/DESIGN: A CRCT is developed using a Solomon four-group design (two intervention and two control groups) to evaluate the effects of using the SIPP. Radiotherapists, instead of cancer patients, are randomly allocated to the experimental or control groups. Within these groups, all included cancer patients are randomised into two subgroups: with and without pre-measurement. Self-reported assessments are conducted at four times: a pre-test at baseline before the first consultation and a post-test directly following the first consultation, and three and 12 months after baseline measurement. The primary outcome measures are the number and types of referrals of cancer patients with psychosocial problems to relevant (psychosocial) caregivers. The secondary outcome measures are patients' satisfaction with the radiotherapist-patient communication, psychosocial distress and quality of life. Furthermore, a process evaluation will be carried out. Data of the effect-evaluation will be analysed according to the intention-to-treat principle and data regarding the types of referrals to health care providers and patient satisfaction about the with radiotherapists will be analysed by means of descriptive techniques. The process evaluation data will also be analysed by means of descriptive techniques. DISCUSSION: Using the SIPP may prevent underdiagnosis of early symptoms reflecting psychosocial problems, should facilitate communication between physicians and patients about psychosocial distress and may contribute to adequate referral to relevant (psychosocial) caregivers. TRIAL REGISTRATION: NCT00859768.


Assuntos
Neoplasias/psicologia , Neoplasias/radioterapia , Ansiedade/diagnóstico , Análise por Conglomerados , Comunicação , Depressão/diagnóstico , Humanos , Programas de Rastreamento/métodos , Relações Médico-Paciente , Testes Psicológicos , Radioterapia/psicologia , Ensaios Clínicos Controlados Aleatórios como Assunto/métodos , Meio Social
9.
Anticancer Drugs ; 20(7): 625-33, 2009 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-19491658

RESUMO

The aim of the study was to investigate the effect of intravenous infusions of adenosine 5'-triphosphate (ATP) on nutritional status and survival in preterminal cancer patients. Ninety-nine preterminal cancer patients (estimated life expectancy 1-6 months) with mixed tumor types were randomly allocated to receive either intravenous ATP weekly (8-10 h/week, maximum 50 microg/kg/min) for 8 weeks, or no ATP (control group). Nutritional status parameters were assessed until 8 weeks, and analyzed by repeated-measures analysis of covariance. Cox proportional hazards models were fitted to assess the effect of ATP on short-term (0-8 weeks) and long-term (0-6 months) survival. Fifty-one patients were randomized to ATP and 48 to the control group. Results showed a significant favorable effect of ATP on triceps skin fold thickness [between-group difference per 8 weeks 1.76 mm, 95% confidence interval (CI): 0.48-3.12 mm; P = 0.009] and on short-term survival [0-8 weeks hazard ratio (HR): 0.40, 95% CI: 0.17-0.95; P = 0.037]. In weight-stable patients and in lung cancer patients, long-term survival (0-6 months) was also significantly better in ATP-treated patients (weight-stable patients HR: 0.40, 95% CI: 0.19-0.83; P = 0.014; patients with lung cancer: HR: 0.35, 95% CI: 0.14-0.88; P = 0.025). In conclusion, in this population of preterminal cancer patients, ATP infusions, at the dose and schedule studied, had a favorable effect on triceps skin fold thickness and survival, especially in weight-stable patients and patients with lung cancer. Larger studies are warranted to confirm these findings and to further define the effect of ATP on tumor growth and survival.


Assuntos
Trifosfato de Adenosina/uso terapêutico , Caquexia/tratamento farmacológico , Neoplasias/complicações , Estado Nutricional/efeitos dos fármacos , Idoso , Análise de Variância , Caquexia/etiologia , Feminino , Seguimentos , Humanos , Infusões Intravenosas , Masculino , Pessoa de Meia-Idade , Modelos de Riscos Proporcionais , Dobras Cutâneas , Taxa de Sobrevida
10.
Am J Epidemiol ; 169(10): 1233-42, 2009 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-19318612

RESUMO

To examine prospectively the relation between alcohol consumption and pancreatic cancer risk, the authors analyzed data from the Netherlands Cohort Study. Participants were 120,852 persons who completed a baseline questionnaire in 1986. After 13.3 years of follow-up, 350 cases of pancreatic cancer (67% microscopically confirmed) were available for analysis. Compared with abstention, the highest category of alcohol consumption (> or =30 g/day of ethanol) was positively associated with pancreatic cancer risk (for all cases, rate ratio = 1.57, 95% confidence interval: 1.03, 2.39; P(trend) = 0.12; for microscopically confirmed cases, rate ratio = 1.54, 95% confidence interval: 0.94, 2.54; P(trend) = 0.22). In a subgroup of stable alcohol users (no change during the 5 years before baseline), a similarly increased risk of pancreatic cancer was found. This increased risk was limited to the first 7 years of follow-up. No associations were observed between consumption of specific alcoholic beverages and risk of pancreatic cancer. The associations were not modified by folate intake or smoking. Overall, these findings suggest an increased pancreatic cancer risk for persons with a high ethanol intake (> or =30 g/day). However, this increased risk was observed only during the first 7 years of follow-up.


Assuntos
Consumo de Bebidas Alcoólicas/epidemiologia , Neoplasias Pancreáticas/epidemiologia , Idoso , Estudos de Coortes , Intervalos de Confiança , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Análise Multivariada , Países Baixos/epidemiologia , Estudos Prospectivos , Risco , Medição de Risco , Fatores de Risco , Inquéritos e Questionários
11.
PLoS One ; 3(12): e3954, 2008.
Artigo em Inglês | MEDLINE | ID: mdl-19088854

RESUMO

BACKGROUND: Gut barrier loss has been implicated as a critical event in the occurrence of postoperative complications. We aimed to study the development of gut barrier loss in patients undergoing major non-abdominal surgery. METHODOLOGY/PRINCIPAL FINDINGS: Twenty consecutive children undergoing spinal fusion surgery were included. This kind of surgery is characterized by long operation time, significant blood loss, prolonged systemic hypotension, without directly leading to compromise of the intestines by intestinal manipulation or use of extracorporeal circulation. Blood was collected preoperatively, every two hours during surgery and 2, 4, 15 and 24 hours postoperatively. Gut mucosal barrier was assessed by plasma markers for enterocyte damage (I-FABP, I-BABP) and urinary presence of tight junction protein claudin-3. Intestinal mucosal perfusion was measured by gastric tonometry (P(r)CO2, P(r-a)CO2-gap). Plasma concentration of I-FABP, I-BABP and urinary expression of claudin-3 increased rapidly and significantly after the onset of surgery in most children. Postoperatively, all markers decreased promptly towards baseline values together with normalisation of MAP. Plasma levels of I-FABP, I-BABP were significantly negatively correlated with MAP at (1/2) hour before blood sampling (-0.726 (p<0.001), -0.483 (P<0.001), respectively). Furthermore, circulating I-FABP correlated with gastric mucosal P(r)CO2, P(r-a)CO2-gap measured at the same time points (0.553 (p = 0.040), 0.585 (p = 0.028), respectively). CONCLUSIONS/SIGNIFICANCE: This study shows the development of gut barrier loss in children undergoing major non-abdominal surgery, which is related to preceding hypotension and mesenterial hypoperfusion. These data shed new light on the potential role of peroperative circulatory perturbation and intestinal barrier loss.


Assuntos
Enteropatias/etiologia , Mucosa Intestinal/patologia , Complicações Pós-Operatórias/etiologia , Escoliose/cirurgia , Fusão Vertebral/efeitos adversos , Adolescente , Pressão Sanguínea , Criança , Pré-Escolar , Claudina-3 , Procedimentos Cirúrgicos do Sistema Digestório , Proteínas de Ligação a Ácido Graxo/sangue , Feminino , Humanos , Hidroxiesteroide Desidrogenases/sangue , Enteropatias/sangue , Enteropatias/patologia , Enteropatias/urina , Mucosa Intestinal/metabolismo , Masculino , Manometria , Proteínas de Membrana/urina , Permeabilidade , Complicações Pós-Operatórias/patologia
12.
Am J Clin Nutr ; 88(5): 1341-52, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18996871

RESUMO

BACKGROUND: Dietary flavonoids are suggested to have antiobesity effects. Prospective evidence of an association between flavonoids and body mass index (BMI) is lacking in general populations. OBJECTIVE: We assessed this association between 3 flavonoid subgroups and BMI over a 14-y period in 4280 men and women aged 55-69 y at baseline from the Netherlands Cohort Study. DESIGN: Dietary intake was estimated at baseline (1986) by a validated food-frequency questionnaire. BMI was ascertained through self-reported height (in 1986) and weight (in 1986, 1992, and 2000). Analyses were based on sex-specific quintiles for the total intake of 6 catechins and of 3 flavonols/flavones. Linear mixed effect modeling was used to assess longitudinal associations in 3 adjusted models: age only, lifestyle (age, energy intake, physical activity, smoking status, alcohol intake, type 2 diabetes, and coffee consumption), and lifestyle and diet (vegetables, fruit, fiber, grains, sugar, dessert, and dieting habits). RESULTS: After adjustment for age and confounders, the BMI (kg/m(2)) of women with the lowest intake of total flavonols/flavones and total catechins increased by 0.95 and 0.77, respectively, after 14 y. Women with the highest intake of total flavonols/flavones and total catechins experienced a significantly lower increase in BMI of 0.40 and 0.31, respectively (between group difference: P < 0.05). This difference remained after additional adjustment for dietary determinants and after stratification of median baseline BMI. In men, no significant differences in BMI change were observed over the quintiles of flavonoid intake after 14 y. CONCLUSION: Our results suggest that flavonoid intake may contribute to maintaining body weight in the general female population.


Assuntos
Índice de Massa Corporal , Peso Corporal/efeitos dos fármacos , Catequina/administração & dosagem , Dieta , Flavonas/administração & dosagem , Flavonóis/administração & dosagem , Fatores Etários , Idoso , Peso Corporal/fisiologia , Catequina/fisiologia , Estudos de Coortes , Inquéritos sobre Dietas , Feminino , Flavonas/fisiologia , Flavonóis/fisiologia , Humanos , Estilo de Vida , Modelos Lineares , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Países Baixos , Obesidade/prevenção & controle , Estudos Prospectivos , Fatores Sexuais , Inquéritos e Questionários
13.
J Clin Oncol ; 23(10): 2185-90, 2005 Apr 01.
Artigo em Inglês | MEDLINE | ID: mdl-15800311

RESUMO

PURPOSE: To obtain and compare the probabilities of finding a mutation in the BRCA1 or BRCA2 genes, the clinical features, and the family history among patients with an unclassified variant (UV) and those with a pathogenic mutation. PATIENTS AND METHODS: The study included 70 patients: 24 with a UV (BRCA1, n = 4; BRCA2, n = 19; both, n = 1), and 46 with a mutation (BRCA1, n = 32; BRCA2, n = 14). Two of the UVs were novel variants; the rest had been reported previously as UVs. Probabilities of finding a mutation were retrospectively obtained using BRCAPRO and Myriad II programs. RESULTS: The probability to detect a mutation was significantly lower in the group of patients with a UV than in those with a mutation (BRCAPRO [mean +/- standard deviation], 0.297 +/- 0.312 v 0.627 +/- 0.315, P = .001; and Myriad II, 0.124 +/- 0.090 v 0.283 +/- 0.176, P = .001, respectively). Independent predictive factors of finding either a UV or a mutation were number of affected relatives (2.9 +/- 1.4 v 4.0 +/- 1.9; P = .039) and number of tumors among relatives (3.3 +/- 1.4 v 4.4 +/- 1.8; P = .031), respectively. CONCLUSION: The combined data about the predictive models show significant differences between both groups. Individual probabilities can be regarded as a help to guide the clinical management of patients with a UV in those genes. However, a definitive conclusion about the pathogenicity of a UV can not be obtained from the clinical features alone, but only in combination with biochemical and epidemiologic data.


Assuntos
Neoplasias da Mama/genética , Neoplasias da Mama/patologia , Genes BRCA1 , Genes BRCA2 , Predisposição Genética para Doença , Variação Genética , Modelos Teóricos , Adulto , Análise Mutacional de DNA , Feminino , Humanos , Anamnese , Pessoa de Meia-Idade , Linhagem , Prognóstico , Estudos Retrospectivos
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