102 research outputs found
GBA mutations are associated with Rapid eye movement sleep behavior disorder
Rapid eye movement sleep behavior disorder and GBA mutations are both
associated with Parkinsonâs disease. The GBA gene was sequenced in idiopathic
rapid eye movement sleep behavior disorder patients (n = 265), and compared
to controls (n = 2240). Rapid eye movement sleep behavior disorder questionnaire was performed in an independent Parkinsonâs disease cohort (n = 120).
GBA mutations carriers had an OR of 6.24 (10.2% in patients vs. 1.8% in controls, P < 0.0001) for rapid eye movement sleep behavior disorder, and among
Parkinsonâs disease patients, the OR for mutation carriers to have probable
rapid eye movement sleep behavior disorder was 3.13 (P = 0.039). These results
demonstrate that rapid eye movement sleep behavior disorder is associated with
GBA mutations, and that combining genetic and prodromal data may assist in
identifying individuals susceptible to Parkinsonâs disease
The role of the melanoma gene MC1R in Parkinson disease and REM sleep behavior disorder
The MC1R gene, suggested to be involved in Parkinson disease (PD) and melanoma, was
sequenced in PD patients (n=539) and controls (n=265) from New-York, and PD patients (n=551),
rapid eye movement sleep behavior disorder (RBD) patients (n=351) and controls (n=956) of
European ancestry. Sixty-eight MC1R variants were identified, including 7 common variants with
frequency>0.01. None of the common variants was associated with PD or RBD in the different
regression models. In a meta-analysis with fixed-effect model, the p.R160W variant was
associated with an increased risk for PD (OR=1.22, 95%CI 1.02-1.47, p=0.03) but with significant
heterogeneity (p=0.048). Removing one study that introduced the heterogeneity resulted in nonsignificant
association (OR=1.11, 95%CI 0.92-1.35, p=0.27, heterogeneity p=0.57). Rare variants
had similar frequencies in patients and controls (10.54% and 10.15%, respectively, p=0.75), and
no cumulative effect of carrying more than one MC1R variant was found. The current study does
not support a role for the MC1R p.R160W and other variants in susceptibility for PD or RBD
The dementia-associated APOE Δ4 allele is not associated with rapid eye movement sleep behavior disorder
The present study aimed to examine whether the APOE Δ4 allele, associated with dementia with Lewy bodies (DLB), and possibly with dementia in Parkinson's disease (PD), is also associated with idiopathic rapid eye movement sleep behavior disorder (RBD). Two single nucleotide polymorphisms, rs429358 and rs7412, were genotyped in RBD patients (n = 480) and in controls (n = 823). APOE Δ4 allele frequency was 0.14 among RBD patients and 0.13 among controls (OR = 1.11, 95% CI: 0.88-1.40, p = 0.41). APOE Δ4 allele frequencies were similar in those who converted to DLB (0.14) and those who converted to Parkinson's disease (0.12) or multiple system atrophy (0.14, p = 1.0). The APOE Δ4 allele is neither a risk factor for RBD nor it is associated with conversion from RBD to DLB or other synucleinopathies
Guidelines on the management of valvular heart disease: The Task Force on the Management of Valvular Heart Disease of the European Society of Cardiology.
80These guidelines focus on valvular heart disease in adults and adolescents, are
oriented towards management, and will not deal with endocarditis
and congenital valve diseases in adults and
adolescents, since recent guidelines have been produced
by the ESC on these topics. Although valvular heart disease is less common in
industrialized countries than coronary disease, heart
failure, or hypertension, guidelines are needed in this
field for several reasons: valvular heart disease is common and often requires intervention; substantial advances have been made in the understanding
of its pathophysiology; the patient population has changed with a continuous
decline of acute rheumatic fever and an increased
incidence
of degenerative valvular diseases in industrialized
countries. The incidence of endocarditis remains stable and
other causes of valve disease are rare. Because of the predominance
of degenerative valve disease, the two most frequent
valve diseases are now calcific aortic stenosis and
mitral regurgitation. Aortic regurgitation and mitral stenosis have become less common. Diagnosis is now dominated by echocardiography, which
has become the standard to evaluate valve structure and
function. Treatment has not only developed through the continuing
progress in prosthetic valve technology, but has also been
reoriented by the development of conservative surgical
approaches and the introduction of percutaneous interventional
techniques.openopenVahanian, A; Baumgartner, ; H, ; Bax, ; J, ; Butchart, ; E, ; Dion, ; R, ; Filippatos, ; G, ; Flachskampf, ; F, ; Hall, ; R, ; Iung, ; B, ; Kasprzak, ; J, ; Nataf, ; P, ; Tornos, ; P, ; Torracca, ; L, ; Wenink, ; A, ; Silvia, ; Priori, G.; Blanc, Jean-Jacques; Andrzej, ; Budaj, ; John, ; Camm, ; Veronica, ; Dean, ; Jaap, ; Deckers, ; Kenneth, ; Dickstein, ; John, ; Lekakis, ; Keith, ; Mcgregor, ; Marco, ; Metra, ; João, ; Morais, ; Ady, ; Osterspey, ; Juan, ; Tamargo, ; Luis, José; Zamorano, ; Annalisa, ; Angelini, ; Manuel, ; Antunes, ; Angel, Miguel; Fernandez, Garcia; Christa, ; Gohlke-Baerwolf, ; Gilbert, ; Habib, ; John, ; Mcmurray, ; Catherine, ; Otto, ; Luc, ; Pierard, ; JosÚ, ; Pomar, L.; Bernard, ; Prendergast, ; Raphael, ; Rosenhek, ; Sousa, Miguel; Uva, ; Juan, ; Tamargo,Vahanian, A; Baumgartner, ; H, ; Bax, ; J, ; Butchart, ; E, ; Dion, ; R, ; Filippatos, ; G, ; Flachskampf, ; F, ; Hall, ; R, ; Iung, ; B, ; Kasprzak, ; J, ; Nataf, ; P, ; Tornos, ; P, ; Torracca, ; L, ; Wenink, ; A, ; Silvia, ; Priori, G.; Blanc, Jean Jacques; Andrzej, ; Budaj, ; John, ; Camm, ; Veronica, ; Dean, ; Jaap, ; Deckers, ; Kenneth, ; Dickstein, ; John, ; Lekakis, ; Keith, ; Mcgregor, ; Marco, ; Metra, Marco; João, ; Morais, ; Ady, ; Osterspey, ; Juan, ; Tamargo, ; Luis, José; Zamorano, ; Annalisa, ; Angelini, ; Manuel, ; Antunes, ; Angel, Miguel; Fernandez, Garcia; Christa, ; Gohlke, Baerwolf; Gilbert, ; Habib, ; John, ; Mcmurray, ; Catherine, ; Otto, ; Luc, ; Pierard, ; JosÚ, ; Pomar, L.; Bernard, ; Prendergast, ; Raphael, ; Rosenhek, ; Sousa, Miguel; Uva, ; Juan, ; Tamargo
The Changing Landscape for Stroke\ua0Prevention in AF: Findings From the GLORIA-AF Registry Phase 2
Background GLORIA-AF (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients with Atrial Fibrillation) is a prospective, global registry program describing antithrombotic treatment patterns in patients with newly diagnosed nonvalvular atrial fibrillation at risk of stroke. Phase 2 began when dabigatran, the first non\u2013vitamin K antagonist oral anticoagulant (NOAC), became available. Objectives This study sought to describe phase 2 baseline data and compare these with the pre-NOAC era collected during phase 1. Methods During phase 2, 15,641 consenting patients were enrolled (November 2011 to December 2014); 15,092 were eligible. This pre-specified cross-sectional analysis describes eligible patients\u2019 baseline characteristics. Atrial fibrillation disease characteristics, medical outcomes, and concomitant diseases and medications were collected. Data were analyzed using descriptive statistics. Results Of the total patients, 45.5% were female; median age was 71 (interquartile range: 64, 78) years. Patients were from Europe (47.1%), North America (22.5%), Asia (20.3%), Latin America (6.0%), and the Middle East/Africa (4.0%). Most had high stroke risk (CHA2DS2-VASc [Congestive heart failure, Hypertension, Age 6575 years, Diabetes mellitus, previous Stroke, Vascular disease, Age 65 to 74 years, Sex category] score 652; 86.1%); 13.9% had moderate risk (CHA2DS2-VASc = 1). Overall, 79.9% received oral anticoagulants, of whom 47.6% received NOAC and 32.3% vitamin K antagonists (VKA); 12.1% received antiplatelet agents; 7.8% received no antithrombotic treatment. For comparison, the proportion of phase 1 patients (of N = 1,063 all eligible) prescribed VKA was 32.8%, acetylsalicylic acid 41.7%, and no therapy 20.2%. In Europe in phase 2, treatment with NOAC was more common than VKA (52.3% and 37.8%, respectively); 6.0% of patients received antiplatelet treatment; and 3.8% received no antithrombotic treatment. In North America, 52.1%, 26.2%, and 14.0% of patients received NOAC, VKA, and antiplatelet drugs, respectively; 7.5% received no antithrombotic treatment. NOAC use was less common in Asia (27.7%), where 27.5% of patients received VKA, 25.0% antiplatelet drugs, and 19.8% no antithrombotic treatment. Conclusions The baseline data from GLORIA-AF phase 2 demonstrate that in newly diagnosed nonvalvular atrial fibrillation patients, NOAC have been highly adopted into practice, becoming more frequently prescribed than VKA in Europe and North America. Worldwide, however, a large proportion of patients remain undertreated, particularly in Asia and North America. (Global Registry on Long-Term Oral Antithrombotic Treatment in Patients With Atrial Fibrillation [GLORIA-AF]; NCT01468701
A História da Alimentação: balizas historiogråficas
Os M. pretenderam traçar um quadro da HistĂłria da Alimentação, nĂŁo como um novo ramo epistemolĂłgico da disciplina, mas como um campo em desenvolvimento de prĂĄticas e atividades especializadas, incluindo pesquisa, formação, publicaçÔes, associaçÔes, encontros acadĂȘmicos, etc. Um breve relato das condiçÔes em que tal campo se assentou faz-se preceder de um panorama dos estudos de alimentação e temas correia tos, em geral, segundo cinco abardagens Ia biolĂłgica, a econĂŽmica, a social, a cultural e a filosĂłfica!, assim como da identificação das contribuiçÔes mais relevantes da Antropologia, Arqueologia, Sociologia e Geografia. A fim de comentar a multiforme e volumosa bibliografia histĂłrica, foi ela organizada segundo critĂ©rios morfolĂłgicos. A seguir, alguns tĂłpicos importantes mereceram tratamento Ă parte: a fome, o alimento e o domĂnio religioso, as descobertas europĂ©ias e a difusĂŁo mundial de alimentos, gosto e gastronomia. O artigo se encerra com um rĂĄpido balanço crĂtico da historiografia brasileira sobre o tema
Risk factors for Coronavirus disease 2019 (Covid-19) death in a population cohort study from the Western Cape province, South Africa
Risk factors for coronavirus disease 2019 (COVID-19) death in sub-Saharan Africa and the effects of human immunodeficiency virus (HIV) and tuberculosis on COVID-19 outcomes are unknown. We conducted a population cohort study using linked data from adults attending public-sector health facilities in the
Western Cape, South Africa. We used Cox proportional hazards models, adjusted for age, sex, location, and comorbidities, to examine the associations between HIV, tuberculosis, and COVID-19 death from 1 March to 9 June 2020 among (1) public-sector âactive patientsâ (â„1 visit in the 3 years before March 2020); (2) laboratory-diagnosed COVID-19 cases; and (3) hospitalized COVID-19
cases. We calculated the standardized mortality ratio (SMR) for COVID-19, comparing adults living with and without HIV using
modeled population estimates.Among 3 460 932 patients (16% living with HIV), 22 308 were diagnosed with COVID-19, of whom 625 died. COVID19 death was associated with male sex, increasing age, diabetes, hypertension, and chronic kidney disease. HIV was associated with
COVID-19 mortality (adjusted hazard ratio [aHR], 2.14; 95% confidence interval [CI], 1.70â2.70), with similar risks across strata of
viral loads and immunosuppression. Current and previous diagnoses of tuberculosis were associated with COVID-19 death (aHR,
2.70 [95% CI, 1.81â4.04] and 1.51 [95% CI, 1.18â1.93], respectively). The SMR for COVID-19 death associated with HIV was 2.39
(95% CI, 1.96â2.86); population attributable fraction 8.5% (95% CI, 6.1â11.1)
LE SYNDROME DE WILLIAMS A L'AGE ADULTE (A PROPOS DE 2 OBSERVATIONS ET REVUE DE LA LITTERATURE)
REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF
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