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1.
J Hum Nutr Diet ; 28 Suppl 2: 33-40, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-24528102

RESUMO

BACKGROUND: Attrition is a major limitation of most weight management intervention programmes. The present study aimed to conduct an extensive investigation of personal, sociodemographic and treatment-related factors associated with attrition at different stages of a 10-week group weight-loss programme. METHODS: The present study is part of a longitudinal, clinical intervention study comparing three conditions in a 10-week group programme: Control, Behavioural Intentions and Implementation Intentions. The study included 587 participants with a mean (SD) age of 46 (11) years (range 18-78 years) and a mean (SD) body mass index (BMI) of 31.9 (5.5) kg m(-2), with 90% being female. To characterise dropout in each week separately, as well as overall dropout (dropout until week 9, the median time of dropout), we tested several logistic regression models, including multiple imputations to cope with missing data. RESULTS: The results of the different dropout models consistently showed that a smaller reduction in BMI in the first 2 weeks of the programme was the strongest predictor of dropout. Dropout in the tenth and last week differed from the earlier weeks both in the relatively high dropout rate (56% of total dropout) and in that, in contrast to earlier weeks, the week 10 model included the reduction in BMI during the last 2 weeks before dropout but did not include the reduction in BMI at the initiation of the intervention. CONCLUSIONS: Weight-loss in the beginning of the programme is a crucial independent determinant of dropout in each week except the last one. This finding is important because it suggests a simple assessment for a major dropout risk factor in adult weight-loss intervention programmes.


Assuntos
Logro , Índice de Massa Corporal , Obesidade/terapia , Cooperação do Paciente , Pacientes Desistentes do Tratamento , Redução de Peso , Programas de Redução de Peso , Adolescente , Adulto , Idoso , Feminino , Processos Grupais , Humanos , Modelos Logísticos , Estudos Longitudinais , Masculino , Pessoa de Meia-Idade , Adulto Jovem
2.
Obes Rev ; 15 Suppl 4: 146-58, 2014 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-25196411

RESUMO

Electronic health (eHealth) interventions have demonstrated efficacy for weight management. However, little is known about their efficacy among racial/ethnic minority populations, in whom there is a disproportionate prevalence of obesity. This systematic review evaluated the efficacy of eHealth weight management interventions among overweight and obese racial/ethnic minority adults. We required that trial samples be comprised of at least 50% racial/ethnic minorities or report outcomes by race/ethnicity. We searched five electronic databases for trials conducted through June 2012. Six papers met our eligibility criteria. These studies provide suggestive evidence that eHealth interventions can produce low magnitude, short-term weight loss among racial/ethnic minorities. Trials were methodologically sound, with high retention and participant engagement. There was no evidence detailing the efficacy of mobile health approaches, although this area is promising given high utilization rates of mobile devices among racial/ethnic minorities. More evidence, particularly from longer-term trials, is necessary to demonstrate that eHealth intervention approaches can produce clinically meaningful (≥ 5% of initial body weight) weight loss among racial/ethnic minority populations.


Assuntos
Promoção da Saúde , Disparidades em Assistência à Saúde/estatística & dados numéricos , Grupos Minoritários , Obesidade/prevenção & controle , Telemedicina , Redução de Peso , Adulto , Medicina Baseada em Evidências , Humanos , Aceitação pelo Paciente de Cuidados de Saúde/estatística & dados numéricos , Avaliação de Programas e Projetos de Saúde , Garantia da Qualidade dos Cuidados de Saúde , Fatores Socioeconômicos , Estados Unidos/epidemiologia
3.
Int J Obes (Lond) ; 37(1): 75-8, 2013 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22828939

RESUMO

OBJECTIVE: Obstructive sleep apnea (OSA), attention deficit/hyperactivity disorder (ADHD), type 2 diabetes mellitus and psychopathological problems co-occur at increased rates among both obese and enuretic children. We hypothesized that the prevalence of enuresis will be increased in obese children and adolescents. DESIGN: A cross-sectional study. SUBJECTS: 281 children and adolescents aged 7-18 years, who completed a questionnaire regarding enuresis, medical conditions and sociodemographic parameters; 158 were normal weight, 37 overweight (85thBMI (body mass index)<95th percentiles) and 86 obese (BMI95th percentile). MAIN OUTCOME MEASURE(S): Occurrence of enuresis among obese children and adolescents. RESULTS: Enuresis was reported in 14 (8.8%) normal weight, 6 (16%) overweight and 26 (30%) obese youth. Odds ratio (OR)=6.5, 95% confidence interval (CI)=2.67-15.78 for enuresis among obese compared with normal weight (P<0.0001). Each increment of one BMI-Z score unit was associated with an increased risk of enuresis, OR of 2.14, 95% CI (1.46-3.12), P=0.00008. Male gender (OR 2.84, 95% CI (1.10-5.58), P=0.028), first-degree relative with current/past enuresis (OR 4.24, 95% CI (1.62-11.08), P=0.003), voiding dysfunction symptoms (OR 3.067, 95% CI (1.05-9.00), P=0.041) and ADHD (OR 2.31, 95% CI (0.99-5.34), P=0.051) increased the risk of enuresis. OSA-related symptoms, academic achievements in school, sharing a bedroom, family size relative to number of rooms in home, parental education, family status and religious observance were not found to increase the risk for enuresis. CONCLUSIONS: Obese children are at increased risk for enuresis. Enuresis should be clarified during the primary workup of every obese child and adolescent.


Assuntos
Saúde Mental/estatística & dados numéricos , Enurese Noturna/epidemiologia , Obesidade/epidemiologia , Apneia Obstrutiva do Sono/epidemiologia , Adolescente , Análise de Variância , Transtorno do Deficit de Atenção com Hiperatividade , Índice de Massa Corporal , Criança , Comorbidade , Estudos Transversais , Diabetes Mellitus Tipo 2/epidemiologia , Feminino , Humanos , Israel/epidemiologia , Masculino , Enurese Noturna/diagnóstico , Enurese Noturna/psicologia , Obesidade/complicações , Obesidade/psicologia , Razão de Chances , Aptidão Física , Valor Preditivo dos Testes , Prevalência , Qualidade de Vida , Fatores de Risco , Apneia Obstrutiva do Sono/diagnóstico , Fatores Socioeconômicos , Inquéritos e Questionários
4.
Epidemiol Infect ; 137(10): 1369-76, 2009 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-19351434

RESUMO

Proposed measures to contain pandemic influenza include school closure, although the effectiveness of this has not been investigated. We examined the effect of a nationwide elementary school strike in Israel in 2000 on the incidence of influenza-like illness. In this historical observational study of 1.7 million members of a preferred provider organization, we analysed diagnoses from primary-care visits during the winter months in 1998-2002. We calculated the weekly ratio of influenza-like diagnoses to non-respiratory diagnoses, and fitted regression models for school-aged children, children's household members, and all other individuals aged >12 years. For each population the steepest drop in the ratio of influenza-like diagnoses to non-respiratory diagnoses occurred in the strike year 2 weeks after the start of the strike. The changes in the weekly ratio of influenza-like diagnoses to non-respiratory diagnoses were statistically significant (P=0.0074) for school children for the strike year compared to other years. A smaller decrease was also seen for the adults with no school-aged children in 1999 (P=0.037). The Chanukah holiday had a negative impact on the ratio for school-aged children in 1998, 1999 and 2001 (P=0.008, 0.006 and 0.045, respectively) and was statistically significant for both adult groups in 1999 and for adults with no school-aged children in 2001. School closure should be considered part of the containment strategy in an influenza pandemic.


Assuntos
Infecções Comunitárias Adquiridas/epidemiologia , Infecções Comunitárias Adquiridas/prevenção & controle , Infecções Respiratórias/epidemiologia , Infecções Respiratórias/prevenção & controle , Infecções Respiratórias/transmissão , Instituições Acadêmicas , Adolescente , Adulto , Idoso , Idoso de 80 Anos ou mais , Criança , Controle de Doenças Transmissíveis/métodos , Infecções Comunitárias Adquiridas/história , Infecções Comunitárias Adquiridas/transmissão , Feminino , História do Século XXI , Humanos , Incidência , Israel/epidemiologia , Masculino , Pessoa de Meia-Idade , Infecções Respiratórias/história , Adulto Jovem
5.
J Bone Joint Surg Br ; 90(11): 1507-11, 2008 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-18978274

RESUMO

The role of heritable thrombophilic risk factors in the pathogenesis of the Perthes' disease is controversial. The clinical and radiological findings of Perthes' disease may be indistinguishable from those of Gaucher's disease, and the most common Jewish N370S Gaucher mutation is threefold greater in patients with Perthes' disease. Familial osteonecrosis of the femoral head is associated with variant mutations of collagen type II (COL2A1 mutations). We therefore studied the potential role of genetic thrombophilia and the Gaucher and COL2A1 mutations in children with Perthes' disease. Genomic DNA of 119 children with radiologically-confirmed Perthes' disease diagnosed between 1986 and 2005 was analysed for the thrombophilic polymorphisms Factor V Leiden, 677T-MTHFR and FIIG20210A. The results were compared with those of a group of 276 children without Perthes' disease. DNA was also analysed for the Gaucher mutations N370S, G insertion (84GG), L444P, Intron 2 (IVS2+1G>A) and R496H. Enzymic assays confirmed the Gaucher disease status. Collagen (COL2A1) mutations of the 12q13 gene were also analysed. The prevalence of thrombophilic markers was similar among the 119 patients with Perthes' disease and the 276 control subjects. The prevalence of the Gaucher mutation was consistent with Israeli population carriership data and did not confirm an earlier-claimed association with Perthes' disease. All 199 patients were negative for the studied COL2A1 mutations. We found no genetic association between Perthes' disease and either Gaucher's disease or COL2A1 mutations or increased genetic thrombophilia among our patients compared with the control group. A systematic review of case-control studies suggested that there was a positive association between Perthes' disease and Factor V Leiden. The impact of this association upon the disease, although not consistent across the studies, remains unclear.


Assuntos
Doença de Gaucher/genética , Doença de Legg-Calve-Perthes/genética , Trombofilia/genética , Adolescente , Árabes/etnologia , Árabes/genética , Biomarcadores/sangue , Estudos de Casos e Controles , Criança , Pré-Escolar , Colágeno Tipo II/genética , Análise Mutacional de DNA , Fator V/genética , Feminino , Doença de Gaucher/complicações , Predisposição Genética para Doença/genética , Humanos , Lactente , Israel/etnologia , Judeus/etnologia , Judeus/genética , Doença de Legg-Calve-Perthes/etiologia , Masculino , Mutação , Fatores de Risco , Estatística como Assunto , Trombofilia/complicações
6.
Haemophilia ; 12(5): 490-3, 2006 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-16919078

RESUMO

Surgery performed without blood component therapy in patients with severe factor XI deficiency can be accompanied by excessive bleeding in some but not all patients. In an attempt to minimize the use of blood derivatives, we carried out a retrospective analysis of bleeding complications in 120 patients with severe FXI deficiency (level of <1-15 U dL-1) who had undergone different types of surgical procedures without replacement therapy. Procedures at tissues exhibiting fibrinolytic activity were associated with bleeding in 49-67% of the patients, while procedures involving sites with no local fibrinolytic activity were associated with bleeding in 1.5-40%. The increased bleeding tendency at fibrinolytic site was significant (P=0.0015), but was unrelated to the genotype of the patients. Thus, parsimonious use of replacement therapy is possible in patients with severe FXI deficiency undergoing surgery predicting a decrease in the risks of volume overload, transfusion related acute lung injury, transmission of infectious diseases, thrombosis, allergic reactions and development of inhibitors to FXI.


Assuntos
Deficiência do Fator XI/cirurgia , Hemorragia/etiologia , Transfusão de Componentes Sanguíneos , Deficiência do Fator XI/complicações , Deficiência do Fator XI/fisiopatologia , Fibrinólise/fisiologia , Genótipo , Hemorragia/fisiopatologia , Humanos , Estudos Retrospectivos
7.
J Thromb Haemost ; 1(4): 658-61, 2003 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-12871398

RESUMO

BACKGROUND AND PURPOSE: Factor XI (FXI) contributes to thrombin generation thereby affecting fibrin formation and to down regulation of fibrinolysis by activation of thrombin-activatable fibrinolysis inhibitor (TAFI). The purpose of this study was to evaluate whether patients with severe FXI deficiency are protected against acute myocardial infarction (AMI). METHODS: The incidence of AMI in patients with severe FXI deficiency (FXI activity less than 15 U dL(-1)) whose age was 35 years or more was compared to the incidence of AMI in age and gender matched persons of the general population. Atherosclerotic risk factors were assessed in FXI deficient patients and blood was tested for prothrombotic parameters such as FV Leiden, prothrombin G20210A, lupus anticoagulant, and platelet membrane polymorphisms. The common mutations causing FXI deficiency in Jews were also examined. RESULTS: Of 96 patients with severe FXI deficiency (55 women and 41 men) 16 had a history of AMI (6 women and 10 men). The median age at the time of AMI was 64.5 for women and 58 for men. The calculated annual rate of AMI in men was similar to the expected in the general Israeli population, whereas in women it was almost 2-fold higher, but this difference did not reach statistical significance. One or more atherosclerotic risk factors were observed in 13 of 16 patients (81.3%) with AMI compared to 44 of 79 patients (55.7%) without AMI (P < 0.001). The frequency distributions of platelet polymorphisms and of prothrombotic polymorphisms were not different between patients with severe FXI deficiency who experienced or not an AMI. None of the patients had lupus anticoagulant. The common genotypes which cause FXI deficiency in Jews were similarly distributed in patients with and without AMI. CONCLUSIONS: Severe FXI deficiency does not confer protection against AMI.


Assuntos
Deficiência do Fator XI/epidemiologia , Infarto do Miocárdio/epidemiologia , Adulto , Distribuição por Idade , Idoso , Idoso de 80 Anos ou mais , Arteriosclerose/epidemiologia , Arteriosclerose/genética , Deficiência do Fator XI/genética , Saúde da Família , Feminino , Genótipo , Humanos , Incidência , Israel/epidemiologia , Masculino , Pessoa de Meia-Idade , Infarto do Miocárdio/genética , Glicoproteínas da Membrana de Plaquetas/genética , Polimorfismo Genético , Fatores de Risco , Trombofilia/epidemiologia , Trombofilia/genética
8.
Diagn Cytopathol ; 25(6): 389-96, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11747236

RESUMO

Virtual microscopy (VM) refers to the use of an automated microscope and digital imaging technology to scan, store, and view glass slides. VM systems allow the user to view a scanned image of the entire slide at multiple magnifications on a computer screen. We tested VM to evaluate its possible utility in diagnostic cytopathology. Ten cervical-vaginal monolayered preparations (AutoCyte preparation) were scanned using a BLISS (Bacus Laboratories Inc. Slide Scanner) system. Approximately 20-30% of the cellular area of each slide was imaged. The cases were randomly chosen to include examples ranging from benign cellular changes (BCC) to high-grade squamous intraepithelial lesions (HSIL). The computer performed image tiling and fusing of multiple JPEG images to create a high-quality VM slide. Six examiners (two each of cytopathologists, senior residents, and cytotechnologists) blindly evaluated the VM slides using an image server program (WebSlide Browser thin client software). The cytopathologic diagnoses made on the VM slide were then compared to the original glass slide diagnoses. BLISS took 36-100 min (avg. 58.4 min) to scan the selected fields in a glass slide with file sizes ranging from 23.1-83.6 MB. Time taken by the examiners to render a diagnosis ranged from 1-15 min (avg. 4.1 min) per case. The combined diagnostic accuracy was 98.3%. Only one case of LSIL was missed by one examiner. VM is a promising new tool, which gives a user the feel and simulated experience of an actual microscopic examination and provides a useful alternative to a glass slide in diagnostic cytopathology. Possible applications include: 1) second opinion consultation without transporting the glass slide, 2) education, 3) VM proficiency tests / board exams, and 4) telepathology. Shortcomings include 1) expensive initial setup, 2) inability to maintain an adequate focus in a thick smear with multiple levels, 3) large storage size of the VM slide, and 4) relatively long time needed to scan a slide.


Assuntos
Processamento de Imagem Assistida por Computador , Microscopia/métodos , Patologia Clínica/métodos , Telepatologia/métodos , Feminino , Humanos , Microscopia/instrumentação , Patologia Clínica/instrumentação , Consulta Remota , Reprodutibilidade dos Testes , Esfregaço Vaginal/economia , Esfregaço Vaginal/métodos
9.
J Expo Anal Environ Epidemiol ; 11(5): 414-21, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11687915

RESUMO

Hygiene surveys of pollutants exposure data can be analyzed by analysis of variance (ANOVA) model with a random worker effect. Typically, workers are classified into homogeneous exposure groups, so it is very common to obtain a zero or negative ANOVA estimate of the between-worker variance (sigma2B). Negative estimates are not sensible and also pose problems for estimating the probability (theta) that in a job group, a randomly selected worker's mean exposure exceeds the occupational exposure standard. Therefore, it was suggested by Rappaport et al. to replace a non-positive estimate with an approximate one-sided 60% upper confidence bound. This article develops an alternative estimator, based on the upper tolerance interval suggested by Wang and Iyer. We compared the performance of the two methods using real data and simulations with respect to estimating both the between-worker variance and the probability of overexposure in balanced designs. We found that the method of Rappaport et al. has three main disadvantages: (i) the estimated sigma2B remains negative for some data sets; (ii) the estimator performs poorly in estimating sigma2B and theta with two repeated measures per worker and when true sigma2B is quite small, which are quite common situations when studying exposure; (iii) the estimator can be extremely sensitive to small changes in the data. Our alternative estimator offers a solution to these problems.


Assuntos
Poluentes Ambientais/análise , Modelos Teóricos , Exposição Ocupacional/estatística & dados numéricos , Viés , Humanos
10.
Proteins ; 43(2): 89-102, 2001 May 01.
Artigo em Inglês | MEDLINE | ID: mdl-11276079

RESUMO

We used a nonredundant set of 621 protein-protein interfaces of known high-resolution structure to derive residue composition and residue-residue contact preferences. The residue composition at the interfaces, in entire proteins and in whole genomes correlates well, indicating the statistical strength of the data set. Differences between amino acid distributions were observed for interfaces with buried surface area of less than 1,000 A(2) versus interfaces with area of more than 5,000 A(2). Hydrophobic residues were abundant in large interfaces while polar residues were more abundant in small interfaces. The largest residue-residue preferences at the interface were recorded for interactions between pairs of large hydrophobic residues, such as Trp and Leu, and the smallest preferences for pairs of small residues, such as Gly and Ala. On average, contacts between pairs of hydrophobic and polar residues were unfavorable, and the charged residues tended to pair subject to charge complementarity, in agreement with previous reports. A bootstrap procedure, lacking from previous studies, was used for error estimation. It showed that the statistical errors in the set of pairing preferences are generally small; the average standard error is approximately 0.2, i.e., about 8% of the average value of the pairwise index (2.9). However, for a few pairs (e.g., Ser-Ser and Glu-Asp) the standard error is larger in magnitude than the pairing index, which makes it impossible to tell whether contact formation is favorable or unfavorable. The results are interpreted using physicochemical factors and their implications for the energetics of complex formation and for protein docking are discussed. Proteins 2001;43:89-102.


Assuntos
Ligação Proteica , Aminoácidos/química , Bases de Dados Factuais , Modelos Moleculares , Conformação Proteica , Estatística como Assunto
11.
Hematol J ; 2(1): 38-41, 2001.
Artigo em Inglês | MEDLINE | ID: mdl-11920232

RESUMO

Hyperhomocysteinemia is a defined risk factor for venous thromboembolism (VTE). Several polymorphisms of genes encoding for enzymes acting in the remethylation pathway of homocysteine metabolism, ie, methionine synthase (MS) A2756G, methylenetetrahydrofolate reductase (MTHFR) C677T and MTHFR A1298C, can cause increased homocysteine levels particularly in patients with deficiencies of folic acid, vitamin B6, or B12 and hence be potential risk factors for VTE. Indeed, homozygous MTHFR C677T was shown to be a mild risk factor for VTE by some, but not by all, investigators. In this study, we assessed the risk exerted by MS A2756G and MTHFR A1298C in a cohort of patients with idiopathic venous thromboembolism. Homozygosities for MS A2756G and MTHFR A1298C were not found to be statistically significant risk factors for VTE. In addition, no interactions were observed among MS A2756G, MTHFR A1298C and MTHFR C677T in conferring a risk of VTE.


Assuntos
5-Metiltetra-Hidrofolato-Homocisteína S-Metiltransferase/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Polimorfismo Genético , Tromboembolia/genética , Trombose Venosa/genética , Estudos de Casos e Controles , Fator V/genética , Testes Genéticos , Homozigoto , Humanos , Metilenotetra-Hidrofolato Redutase (NADPH2) , Mutação Puntual , Protrombina/genética , Fatores de Risco , Tromboembolia/etiologia , Trombose Venosa/etiologia
12.
Eye (Lond) ; 15(Pt 4): 511-4, 2001 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-11767028

RESUMO

PURPOSE: To assess the prevalence of vascular risk factors and thrombophilias in central and branch retinal artery occlusion in patients in whom an embolic source is not apparent. METHODS: The study group consisted of 21 consecutive patients with retinal artery occlusion (RAO) in whom Doppler ultrasonography of the carotid arteries and transthoracic or transoesophageal echocardiography were normal. Laboratory methods included polymerase chain reaction for detection of factor V G1691A, factor II G20210A and methylentetrahydrofolate reductase C677T mutations, assays of plasma levels of protein C, free protein S, antithrombin, fibrinogen and homocysteine; and tests for the presence of lupus anticoagulant and anticardiolipin antibodies. Controls for the laboratory tests were 243 healthy subjects. RESULTS: Nine of the 21 (43%) patients had at least one thrombophilic marker: 4 were homozygous for MTHFR C677T, 1 was heterozygous for factor V G1691A, 1 had a high titre of IgM anticardiolipin, 2 were heterozygous for factor V G1691A and homozygous for MTHFR C677T, and 1 had lupus anticoagulant, a high titre of IgM anticardiolipin, homozygosity for MTHFR C677T and hyperhomocysteinaemia. An interaction between vascular risk factors and thrombophilias seemed important since out of 14 patients with hypertension, diabetes and/or hypercholesterolaemia 7 (50%) had a thrombophilia. Homozygous MTHFR C677T was a significant risk factor with odds ratio of 3.18 (95% CI 1.20-8.47). The prevalence of factor V G1691A was also higher in the RAO patients versus controls with an odds ratio of 2.36 (95% CI 0.63-8.88), but this value did not reach significance, probably due to the small sample size. CONCLUSION: A search for thrombophilia in RAO is advisable in patients without evident source of emboli even when vascular risk factors are identified.


Assuntos
Oclusão da Artéria Retiniana/etiologia , Trombofilia/complicações , Doença Aguda , Adolescente , Adulto , Idoso , Artérias Carótidas/diagnóstico por imagem , Ecocardiografia , Fator V/genética , Feminino , Homozigoto , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Pessoa de Meia-Idade , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Oclusão da Artéria Retiniana/genética , Fatores de Risco , Ultrassonografia Doppler
13.
Ophthalmology ; 107(9): 1717-20, 2000 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-10964835

RESUMO

OBJECTIVE: To determine the role of angiotensin converting enzyme (ACE) and angiotensin II type 1 receptor (AT1R) polymorphisms in the pathogenesis of nonartertic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective, case-control study. PARTICIPANTS: Seventy-four patients with NAION diagnosed from 1984 through 1999. Seventy-one patients who visited the Eye Institute comprised the control group. TESTING INTERVENTION: DNA was extracted from whole blood obtained from all patients and control participants. Polymerase chain reaction (PCR) was used for analysis of ACE and AT1R polymorphisms. RESULTS: The frequency of the polymorphism for ACE among the NAION patients (39.2% deletion allele [DD], 54.0% deletion/insertion [D/I] locus, 6.8% insertion allele [II]) was similar to that of the control group (50.7% DD, 39.4% D/I, 9.9% II), with P = 0.21. The frequency of the polymorphism of AT1R in the NAION patients was 5.4% CC, 44.6% CA, 50% AA, and in the control group it was 4.2% CC, 33.8% CA, 62.0% AA, with P = 0.35. Participants less than 55 years of age and those more than 55 had quite similar distributions. CONCLUSIONS: Angiotensin converting enzyme and AT1R polymorphisms have no part in the mechanism of NAION. Thus drugs such as ACE inhibitors or AT1R antagonists are not specifically indicated for treatment of these patients.


Assuntos
Neuropatia Óptica Isquêmica/genética , Peptidil Dipeptidase A/genética , Polimorfismo Genético , Receptores de Angiotensina/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Arterite/genética , Estudos de Casos e Controles , DNA/análise , Primers do DNA/química , Feminino , Deleção de Genes , Frequência do Gene , Humanos , Masculino , Pessoa de Meia-Idade , Reação em Cadeia da Polimerase , Receptor Tipo 1 de Angiotensina , Receptor Tipo 2 de Angiotensina , Estudos Retrospectivos
14.
Am J Surg Pathol ; 24(8): 1105-14, 2000 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-10935651

RESUMO

Pulmonary and mediastinal glomus tumors are rare lesions, with four previously reported primary pulmonary cases and three mediastinal cases. The authors report one mediastinal glomus tumor, a locally infiltrative type, and four pulmonary glomus tumors, including the first case of primary pulmonary glomangiosarcoma. These tumors show a variety of clinical and pathologic differences from the more common cutaneous variety, including later age at presentation, larger size, and more frequent atypical/malignant features. Mediastinal and pulmonary glomus tumors both have an average patient age at presentation of 45 years. However, compared with their pulmonary counterparts, mediastinal glomus tumors are less common, more often symptomatic, and are larger (average size, 5.4 cm). Additionally, mediastinal glomus tumors more often demonstrate malignant or atypical features. Pulmonary glomus tumors average 3.3 cm in greatest dimension, with the majority measuring less than 2.5 cm. The pulmonary glomangiosarcoma presented was large, measuring 9.5 cm, and showed increased mitotic count (9 mitoses/10 high-power fields), necrosis, cytologic atypia, and was associated with disseminated disease. Regardless of clinical symptoms, histologic features, and even metastases, the vast majority of all benign and malignant glomus tumors are indolent and cured surgically, with adjuvant therapy needed only for occasional patients with more advanced disease. The four patients with glomus tumors reported are currently alive and free of disease as of last follow up. The patient with the glomangiosarcoma developed widespread metastases and died of disease 68 weeks after initial therapy.


Assuntos
Tumor Glômico/patologia , Neoplasias Pulmonares/patologia , Neoplasias do Mediastino/patologia , Adulto , Idoso , Biomarcadores Tumorais/análise , Feminino , Tumor Glômico/diagnóstico , Hemangiossarcoma/patologia , Humanos , Imuno-Histoquímica , Neoplasias Pulmonares/diagnóstico , Masculino , Neoplasias do Mediastino/diagnóstico , Microscopia Eletrônica , Pessoa de Meia-Idade
15.
J Pediatr Orthop B ; 9(3): 185-92, 2000 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10904905

RESUMO

An Israeli sample of 475 individuals representing the full spectrum of those with Down syndrome in the Jewish population is presented. The sample is part of a European multicenter study evaluating musculoskeletal disorders. Generalized joint laxity was found to have significant relationships with a number of medical conditions (knee problems, patello-femoral instability, genu valgus, pes planus, heart defects, and gastrointestinal problems). Body mass index was also related to feet problems, vertical talus, spinal problems, genu valgum, pes planus, and heart problems. Yearly multidisciplinary clinical follow-up is recommended in persons with Down syndrome.


Assuntos
Síndrome de Down/complicações , Anormalidades Musculoesqueléticas/complicações , Adolescente , Adulto , Índice de Massa Corporal , Criança , Pré-Escolar , Feminino , Humanos , Israel/epidemiologia , Masculino , Pessoa de Meia-Idade , Anormalidades Musculoesqueléticas/epidemiologia , Prevalência , Fatores de Risco , Inquéritos e Questionários
16.
Ophthalmology ; 106(4): 739-42, 1999 Apr.
Artigo em Inglês | MEDLINE | ID: mdl-10201595

RESUMO

OBJECTIVE: To determine whether genetic or acquired thrombophilias and other risk factors are associated with nonarteritic anterior ischemic optic neuropathy (NAION). DESIGN: Retrospective case-control study. PARTICIPANTS: Sixty-one patients with NAION diagnosed between 1984 and 1997. Ninety consecutive patients who visited the Eye Institute made up the control group. INTERVENTION: Protein C, protein S, antithrombin III, lupus anticoagulant, and three recently described prothrombotic polymorphisms (i.e., factor V G1691A, factor II G20210A, and methylenetetrahydrofolate reductase [MTHFR] C677T) were analyzed. In addition, risk factors for arteriosclerotic vascular disease were assessed. MAIN OUTCOME MEASURES: Parameters of thrombophilia. RESULTS: None of the thrombophilic markers (genetic and acquired) constituted a significant risk factor for NAION. Ischemic heart disease, hypercholesterolemia, and diabetes mellitus were discerned as risk factors for NAION with odds ratios of 2.9 (95% confidence interval [CI], 1.3-6.4), 2.6 (95% CI, 1.2-5.5), and 2.3 (95% CI, 1.1-4.8), respectively. Multiple logistic regression analysis indicated that ischemic heart disease and hypercholesterolemia exerted an additive risk for NAION with a combined odds ratio of 4.5 (95% CI, 1.4-14.5). However, none of these risk factors statistically predicted second eye involvement. CONCLUSION: NAION was not found to be associated with thrombophilic risk factors, yet it was related to ischemic heart disease, hypercholesterolemia, and diabetes mellitus.


Assuntos
Complicações do Diabetes , Hipercolesterolemia/complicações , Isquemia Miocárdica/complicações , Neuropatia Óptica Isquêmica/etiologia , Protrombina/análise , Adulto , Idoso , Idoso de 80 Anos ou mais , Arterite , Biomarcadores , Estudos de Casos e Controles , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Disco Óptico/irrigação sanguínea , Neuropatia Óptica Isquêmica/sangue , Estudos Retrospectivos , Fatores de Risco , Trombofilia/sangue , Trombofilia/complicações
17.
Arterioscler Thromb Vasc Biol ; 19(3): 511-8, 1999 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-10073951

RESUMO

The inherited thrombophilias--deficiencies of protein C, protein S, and antithrombin III--and the prothrombotic polymorphisms factor V G1691A and factor II G20210A predispose patients toward venous thromboembolism (VTE). The aim of this study was to determine the prevalence of single and combined prothrombotic factors in patients with idiopathic VTE and to estimate the associated risks. The study group consisted of 162 patients referred for work-up of thrombophilia after documented VTE. The controls were 336 consecutively admitted patients. In all subjects factor V G1691A, factor II G20210A, and methylenetetrahydrofolate reductase (MTHFR) C677T were analyzed by specific polymerase chain reactions and restriction enzymes. Activities of antithrombin III and protein C, free protein S antigen, and lupus anticoagulant were determined in a subset of 109 patients who were not receiving oral anticoagulants. The prevalences of heterozygotes and homozygotes for factor V G1691A and factor II G20210A among patients and controls were 40.1% versus 3.9% and 18.5% versus 5.4%, respectively (P=0.0001). The prevalence of homozygotes for MTHFR C677T in patients was 22.8% and in controls, 14.3% (P=0.025). Heterozygous and homozygous factor V G1691A, factor II G20210A, and homozygous MTHFR C677T were found to be independent risk factors for VTE, with odds ratios of 16.3, 3.6, and 2.1, respectively. Two or more polymorphisms were detected in 27 of 162 patients (16.7%) and in 3 of 336 controls (0.9%). Logistic regression analysis disclosed odds ratios of 58.6 (confidence interval [CI], 22.1 to 155.2) for joint occurrence of factor V and factor II polymorphisms, of 35.0 (CI, 14.5 to 84.7) for factor V and MTHFR polymorphisms, and of 7.7 (CI, 3.0 to 19.6) for factor II and MTHFR polymorphisms. Among 109 patients in whom a complete thrombophilic work-up was performed, 74% had at least 1 underlying defect. These data indicate that in most patients referred for evaluation of thrombophilia due to idiopathic VTE, 1 or more underlying genetic predispositions were discernible. The presence of >1 of the prothrombotic polymorphisms was associated with a substantial risk of VTE.


Assuntos
Protrombina/genética , Tromboembolia/epidemiologia , Tromboembolia/genética , Trombose Venosa/epidemiologia , Trombose Venosa/genética , Adulto , Idoso , Idoso de 80 Anos ou mais , Antitrombina III/metabolismo , Fator V/genética , Saúde da Família , Feminino , Heterozigoto , Homozigoto , Humanos , Inibidor de Coagulação do Lúpus/metabolismo , Masculino , Metilenotetra-Hidrofolato Desidrogenase (NAD+) , Pessoa de Meia-Idade , Oxirredutases/metabolismo , Mutação Puntual , Polimorfismo Genético , Prevalência , Proteína C/metabolismo , Proteína S/metabolismo , Medição de Risco , Tromboembolia/etiologia , Trombofilia/epidemiologia , Trombofilia/etiologia , Trombofilia/genética , Trombose Venosa/etiologia
18.
Eye (Lond) ; 13 ( Pt 3a): 357-9, 1999 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-10624433

RESUMO

PURPOSE: To retrospectively evaluate in patients with non-arteritic ischaemic optic neuropathy (NAION) whether aspirin reduces the frequency of second eye involvement. METHODS: In 52 patients who presented with NAION between 1984 and 1997 adequate information was available regarding use of aspirin, presence of risk factors and second eye involvement. RESULTS: Second eye involvement was noted in 8 of 16 patients (50%) who did not receive aspirin, in 3 of 8 patients (38%) who received 100 mg/day aspirin and in only 5 of 28 patients (18%) who received aspirin 325 mg/day. Moreover, mean time to second eye involvement was 63 months in patients who did not receive aspirin versus 156 months in patients who received aspirin 325 mg/day. CONCLUSION: Our results strongly suggest that aspirin at 325 mg/day may be effective in reducing the frequency of second eye involvement with NAION.


Assuntos
Aspirina/uso terapêutico , Fibrinolíticos/uso terapêutico , Neuropatia Óptica Isquêmica/prevenção & controle , Inibidores da Agregação Plaquetária/uso terapêutico , Adulto , Fatores Etários , Idoso , Relação Dose-Resposta a Droga , Seguimentos , Humanos , Masculino , Pessoa de Meia-Idade , Razão de Chances , Recidiva , Estudos Retrospectivos , Fatores de Risco , Fatores de Tempo
19.
Blood Coagul Fibrinolysis ; 9(7): 617-22, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9863710

RESUMO

The purpose of this study was to investigate the role of genetic polymorphisms associated with venous and arterial thrombosis in patients with retinal vein occlusion (RVO). One-hundred and two consecutive patients with RVO were examined for factor V G1691A and factor II G20210A, methylenetetrahydrofolate reductase (MTHFR) C677T and apolipoprotein E4 by amplification of specific DNA fragments and restriction analysis. The risks exerted by these polymorphisms and by the conventional risk factors of RVO were evaluated by comparing their frequencies among patients and controls and by estimating the respective odds ratios. We found that the prevalences of the factor V G1691A, factor II G20210A, and apolipoprotein E4 polymorphisms were similar in the study and control groups. Logistic regression analysis involving the parameters for which significant differences were detected disclosed an odds ratio of 1.9 for MTHFR C677T homozygosity (95% confidence interval 0.95-3.81), an odds ratio of 2.12 for hypertension (95% confidence interval 1.16-3.73) and an odds ratio of 3.25 for a family history of stroke (95% confidence interval 1.07-9.51). Our data suggests that homozygosity for the MTHFR C677T polymorphism is a risk factor of RVO in addition to arterial hypertension and a family history of stroke.


Assuntos
Apolipoproteínas E/genética , Fator V/genética , Oxirredutases atuantes sobre Doadores de Grupo CH-NH/genética , Protrombina/genética , Oclusão da Veia Retiniana/genética , Adulto , Idoso , Apolipoproteína E4 , Feminino , Homozigoto , Humanos , Masculino , Metilenotetra-Hidrofolato Redutase (NADPH2) , Pessoa de Meia-Idade , Polimorfismo Genético , Análise de Regressão , Fatores de Risco
20.
Int J Gynaecol Obstet ; 63(1): 15-20, 1998 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-9849706

RESUMO

OBJECTIVE: Earlier works have associated neonatal clavicular fracture (0.2-3.5% of all deliveries) with a range of procedural, fetal and maternal risk factors; more recent studies, however, have failed to firmly identify any one or a combination of them. In the present work we sought to determine possible ante/intra-partum risk factors for this condition. STUDY DESIGN: Using a retrospective case-controlled approach, we examined a series of maternal, fetal and pregnancy or delivery-related variables in 87 cases (out of 403) of fractured clavicle of the newborn diagnosed in our department from 1986 to 1994. All infants were delivered vaginally (in the occipito-anterior position) at term by a specialist obstetrician and underwent peripartum sonographic fetal weight estimation. All variables were compared with those of an equal number of infants born immediately before or after each affected infant and delivered by the same obstetrical team. RESULTS: Fractured clavicles were found in 1.65% of the total number of deliveries during the study period. Neonatal clavicular fracture was significantly and directly related to the duration of the second stage of labor, peripartum sonographic fetal weight estimation, and neonatal length, and inversely related to maternal height; nevertheless, all values in both the study and control groups were within normal range. Logistic regression analysis showed that these antenatal variables significantly affect the chances of clavicular fracture, but due to the high false-positive rate they cannot serve clinically as a comprehensive antenatal prediction index. CONCLUSIONS: The majority of clavicular fractures occur in normal newborns following normal labor and delivery. The risk factors we identified statistically do not offer a method for clinical prenatal prediction. This work provides statistical evidence of the nature of this complication of early newborn life.


Assuntos
Traumatismos do Nascimento/epidemiologia , Clavícula/lesões , Fraturas Ósseas/epidemiologia , Complicações do Trabalho de Parto/epidemiologia , Resultado da Gravidez , Adulto , Análise de Variância , Traumatismos do Nascimento/diagnóstico , Estudos de Casos e Controles , Feminino , Fraturas Ósseas/etiologia , Humanos , Incidência , Recém-Nascido , Israel/epidemiologia , Modelos Logísticos , Parto Normal , Paridade , Gravidez , Estudos Retrospectivos , Fatores de Risco , Sensibilidade e Especificidade
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