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1.
J Pediatr Nurs ; 75: 164-172, 2024.
Artigo em Inglês | MEDLINE | ID: mdl-38160469

RESUMO

PURPOSE: To evaluate the self-reported perspectives of participants involved in the Previene Cádiz intervention for preventing pediatric overweight and obesity. DESIGN AND METHODS: This qualitative study collected information through the World Café technique. A purposive sample of 40 participants was used, of which 14 were schoolchildren, 12 were teachers, and 14 were parent volunteers. The data were segmented, and concepts were created and grouped into dimensions and categories. RESULTS: The participants confirmed they had learned new information and behaviors about healthy habits. Parental awareness was considered a crucial and necessary element in changing family habits; therefore, increasing the motivation of family members was deemed a critical task in public health interventions conducted in school settings. DISCUSSION: Despite the suitability of qualitative methodology to evaluate the perceptions of the main players in an educational intervention, scientific literature is scarce. Obtaining information from the educational community about an intervention is not always easy, so the perspectives of teachers, students, and families about the Previene Cádiz intervention through the World Café approach is considered a relevant contribution. CONCLUSIONS: The participants considered the intervention positive in terms of learning and fostering increased knowledge, awareness, and healthy behaviors. PRACTICE IMPLICATIONS: Future interventions should encourage the active participation of all social groups involved, integrating dynamic and collaborative training activities that are acceptable to all participants.


Assuntos
Sobrepeso , Obesidade Infantil , Criança , Humanos , Sobrepeso/prevenção & controle , Obesidade/prevenção & controle , Comportamentos Relacionados com a Saúde , Família , Pesquisa Qualitativa , Obesidade Infantil/prevenção & controle
2.
Eur Heart J Open ; 3(5): oead095, 2023 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-37829559

RESUMO

Aims: The fragmentation and loss of elastic fibre in the tunica media of the aorta are pathological hallmarks of Marfan syndrome (MFS) but the dynamics of elastin degradation and its relationship to aortic size and physiological growth remain poorly understood. Methods and results: In this post hoc analysis of the AIMS randomized controlled trial, the association of plasma desmosine (pDES)-a specific biomarker of mature elastin degradation-with age and aortic size was analysed in 113 patients with MFS and compared to 109 healthy controls. There was a strong association between age and pDES in both groups, with higher pDES levels in the lower age groups compared to adults. During childhood, pDES increased and peaked during early adolescence, and thereafter decreased to lower adult levels. This trend was exaggerated in young individuals with MFS but in those above 25 years of age, pDES levels were comparable to controls despite the presence of aortic root dilation. In MFS children, increased aortic diameter relative to controls was seen at an early age and although the increase in diameter was less after adolescence, aortic root size continued to increase steadily with age. In MFS participants, there was an indication of a positive association between baseline pDES levels and aortic root dilatation during up to 5 years of follow-up. Conclusion: This study has shown that developmental age has a significant effect on levels of elastin turnover as measured by pDES in MFS individuals as well as healthy controls. This effect is exaggerated in those with MFS with increased levels seen during the period of physiologic development that plateaus towards adulthood. This suggests an early onset of pathophysiology that may present an important opportunity for disease-modifying intervention.

3.
Acta méd. colomb ; 48(1)mar. 2023.
Artigo em Inglês | LILACS-Express | LILACS | ID: biblio-1549977

RESUMO

Introduction: gastrointestinal involvement in COVID-19 occurs in approximately 20% of patients and may include nausea, vomiting, abdominal pain, diarrhea or abnormal liver function tests. In our country, the characteristics of gastrointestinal involvement in COVID-19 patients have not been studied. Objectives: to determine the prevalence of gastrointestinal and liver involvement in patients with COVID-19 treated at two hospitals in Bogotá, Colombia. To determine the association between COVID-19 gastrointestinal involvement and length of hospital stay, severity and mortality. Design and methodology: a cross-sectional study carried out at two hospitals in a hospital subnetwork in Bogotá, Colombia from February 2020 to March 2021. Results: a total of 1,176 patients with a positive reverse transcription polymerase chain reaction (RT-PCR) were included. Gastrointestinal manifestations occurred in 50% (95%CI 47-52%), with the most frequent being diarrhea in 18.4%, odynophagia in 17.6%, anorexia in 14.7% and abdominal pain in 8.8%. An association was found between diarrhea during hospitalization and prolonged hospitalization (OR 1.93 95%CI 1.19-3.13), and between gastrointestinal bleeding on admission and death (OR 3.13, 95%CI 1.1-9.1), among others. Abnormal liver function tests occurred in 46% (95%CI 43-49%) and were more frequent in patients with severe disease and those who died. Conclusions: the prevalence of gastrointestinal manifestations in patients with COVID-19 was 50%. Diarrhea was associated with a longer hospital stay, and gastrointestinal bleeding was associated with respiratory failure and death. Forty-six percent of patients had abnormal liver function tests, with elevated transaminases being the most frequent. Elevated aspartate transaminase (AST) on admission was associated with greater mortality. (Acta Med Colomb 2022; 48. DOI:https://doi.org/10.36104/amc.2023.2729).

4.
Stem Cell Reports ; 18(2): 555-569, 2023 02 14.
Artigo em Inglês | MEDLINE | ID: mdl-36669494

RESUMO

Marfan syndrome (MFS) is a rare connective tissue disorder caused by mutations in FBN1. Patients with MFS notably suffer from aortic aneurysm and dissection. Despite considerable effort, animal models have proven to be poorly predictive for therapeutic intervention in human aortic disease. Patient-derived induced pluripotent stem cells can be differentiated into vascular smooth muscle cells (VSMCs) and recapitulate major features of MFS. We have screened 1,022 small molecules in our in vitro model, exploiting the highly proteolytic nature of MFS VSMCs, and identified 36 effective compounds. Further analysis identified GSK3ß as a recurring target in the compound screen. GSK3ß inhibition/knockdown did not ameliorate the proliferation defect in MFS-VSMCs but improved MFS-VSMC proteolysis and apoptosis and partially rescued fibrillin-1 deposition. To conclude, we have identified GSK3ß as a novel target for MFS, forming the foundation for future work in MFS and other aortic diseases.


Assuntos
Células-Tronco Pluripotentes Induzidas , Síndrome de Marfan , Animais , Humanos , Síndrome de Marfan/genética , Músculo Liso Vascular , Aorta , Glicogênio Sintase Quinase 3 beta
5.
Int J Cardiol ; 366: 1-9, 2022 11 01.
Artigo em Inglês | MEDLINE | ID: mdl-35830949

RESUMO

OBJECTIVES: This study aims to identify the clinical utility of targeted-genetic sequencing in a cohort of patients with TAA and establish a new method for regional histological characterisation of TAA disease. METHODS: Fifty-four patients undergoing surgery for proximal TAA were recruited. EXCLUSIONS: connective tissue disease, bicuspid aortic valves, redo surgery. All patients underwent next generation sequencing (NGS) using a custom gene panel containing 63 genes previously associated with TAA on Illumina MiSeqor NextSeq550 platforms. Explanted TAA tissue was obtained en-bloc from 34/54 patients, and complete circumferential strips of TAA tissue processed into whole slides which were subsequently digitalised. Computational pathology methods were employed to quantify elastin, cellularity and collagen in six equally divided regions across the whole aneurysm circumference. RESULTS: Of 54 patients, clearly pathogenic or potentially pathogenic variants were found in 7.4%: namely LOX, PRKG1, TGFBR1 and SMAD3 genes. 55% had at least one variant of unknown significance (VUS) and seven of the VUSs were in genes with a strong disease association (category A) genes, whilst 15 were from moderate risk (category B) genes. Elastin and collagen abundance displayed high regional variation throughout the aneurysm circumference. In patients with <60% total elastin, the loss of elastin was more significant on the outer curve (38.0% vs 47.4%, p = 0.0094). The presence of VUS, higher pulse wave velocity and advancing age were predictors of elastin loss (regression analysis: p < 0.05). CONCLUSIONS: These findings demonstrate the heterogeneity of TAA disease microstructure and the potential link between histological appearance and clinical factors, including genetic variation.


Assuntos
Aneurisma da Aorta Torácica , Doença da Válvula Aórtica Bicúspide , Aneurisma da Aorta Torácica/diagnóstico , Aneurisma da Aorta Torácica/genética , Aneurisma da Aorta Torácica/patologia , Colágeno , Elastina/genética , Humanos , Análise de Onda de Pulso
6.
Nutrients ; 14(6)2022 Mar 12.
Artigo em Inglês | MEDLINE | ID: mdl-35334863

RESUMO

(1) Background: Lifestyle behaviours and physical fitness play a critical role in the development of childhood obesity. It has been demonstrated in this study that self-reported physical fitness is representative of a healthy lifestyle and thus is associated with a lower incidence of overweight/obesity. The objective of this study was to analyse the independent and combined association of lifestyles (physical activity, screen time, diet and hours of sleep) and self-reported physical fitness with body weight in schoolchildren. (2) Methods: This study performed a descriptive and cross-sectional analysis. The study sample consisted of 864 schoolchildren between 8−9 years old from 26 schools of the province of Cádiz. To measure lifestyles and self-reported physical fitness, questionnaires were administered to both schoolchildren and families. To obtain the body weight status, the children were measured by body mass index (BMI). To verify the influence of lifestyles and self-reported physical fitness on the body weight status of schoolchildren, a combined score of lifestyles and self-reported physical fitness was calculated. (3) Results: Schoolchildren who followed healthier lifestyles and presented good physical fitness had a better body weight status (p < 0.001). Schoolchildren who had less healthful lifestyles and bad physical fitness had a 10.34 times higher risk of being overweight or obese (p = 0.004). (4) Conclusions: It has been shown that there is an independent and combined association between lifestyles and physical fitness on the body weight of the schoolchildren. We have suggested strategies to get children to adopt healthy lifestyles and good physical fitness to maintain a healthy body weight and prevent obesity.


Assuntos
Obesidade Infantil , Peso Corporal , Criança , Estudos Transversais , Estilo de Vida Saudável , Humanos , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Aptidão Física
7.
Genes (Basel) ; 12(7)2021 07 01.
Artigo em Inglês | MEDLINE | ID: mdl-34356048

RESUMO

Adolescent idiopathic scoliosis (AIS) is a complex common disorder of multifactorial etiology defined by a deviation of the spine in three dimensions that affects approximately 2% to 4% of adolescents. Risk factors include other affected family members, suggesting a genetic component to the disease. The POC5 gene was identified as one of the first ciliary candidate genes for AIS, as three variants were identified in large families with multiple members affected with idiopathic scoliosis. To assess the prevalence of p.(A429V), p.(A446T), and p.(A455P) POC5 variants in patients with AIS, we used next-generation sequencing in our cohort of French-Canadian and British families and sporadic cases. Our study highlighted a prevalence of 13% for POC5 variants, 7.5% for p.(A429V), and 6.4% for p.(A446T). These results suggest a higher prevalence of the aforementioned POC5 coding variants in patients with AIS compared to the general population.


Assuntos
Proteínas de Transporte/genética , Variação Genética , Escoliose/genética , Adolescente , Canadá , Proteínas de Transporte/classificação , Estudos de Coortes , Sequenciamento de Nucleotídeos em Larga Escala , Humanos , Linhagem , Prevalência , Fatores de Risco , Escoliose/epidemiologia , Sequenciamento do Exoma
8.
Sci Rep ; 11(1): 11026, 2021 05 26.
Artigo em Inglês | MEDLINE | ID: mdl-34040021

RESUMO

Idiopathic scoliosis (IS) is a complex 3D deformation of the spine with a strong genetic component, most commonly found in adolescent girls. Adolescent idiopathic scoliosis (AIS) affects around 3% of the general population. In a 5-generation UK family, linkage analysis identified the locus 9q31.2-q34.2 as a candidate region for AIS; however, the causative gene remained unidentified. Here, using exome sequencing we identified a rare insertion c.1569_1570insTT in the tubulin tyrosine ligase like gene, member 11 (TTLL11) within that locus, as the IS causative gene in this British family. Two other TTLL11 mutations were also identified in two additional AIS cases in the same cohort. Analyses of primary cells of individuals carrying the c.1569_1570insTT (NM_194252) mutation reveal a defect at the primary cilia level, which is less present, smaller and less polyglutamylated compared to control. Further, in a zebrafish, the knock down of ttll11, and the mutated ttll11 confirmed its role in spine development and ciliary function in the fish retina. These findings provide evidence that mutations in TTLL11, a ciliary gene, contribute to the pathogenesis of IS.


Assuntos
Ligação Genética , Escoliose , Coluna Vertebral , Adolescente , Estudos de Coortes , Feminino , Predisposição Genética para Doença , Humanos , Fenótipo , Polimorfismo de Nucleotídeo Único , Reino Unido
9.
Artigo em Inglês | MEDLINE | ID: mdl-33567730

RESUMO

This paper describes the protocol for a study designed to address the high prevalence (40%) of childhood overweight and obesity in the province of Cádiz, Spain, as a reflection of what is happening worldwide. It is widely known that children who suffer from childhood obesity have a higher risk of developing chronic diseases in adulthood. This causes a decrease in the quality of life and an increase in health spending. In this context, it is necessary to intervene promoting healthy lifestyle habits from an early stage. The objective of this project will be to evaluate the effectiveness of a multimodal intervention (individual, school and family) called "PREVIENE-CÁDIZ" [CADIZ-PREVENT]. The intervention will be focused mainly on diet, physical activity, sedentary lifestyle and sleep, to prevent overweight and obesity in schoolchildren from 8 to 9 years old in the province of Cádiz. It will consist of a 10-session education program carried out in the classroom by the teachers. In addition, children will be assigned two workbooks, one to work on in class and the other at home with parents. A workshop aimed at parents will be included to help teach them how to obtain healthier lifestyle habits. The proposed study will involve a quasi-experimental design with a control group.


Assuntos
Obesidade Infantil , Qualidade de Vida , Adulto , Criança , Exercício Físico , Promoção da Saúde , Humanos , Sobrepeso/prevenção & controle , Obesidade Infantil/epidemiologia , Obesidade Infantil/prevenção & controle , Espanha/epidemiologia
10.
Artigo em Inglês | MEDLINE | ID: mdl-33477587

RESUMO

This study compared the response of a 9-week cycling training on ventilatory efficiency under two conditions: (i) Combined with respiratory muscle training (RMT) using a new nasal restriction device (FeelBreathe) (FB group) and (ii) without RMT (Control group). Eighteen healthy elite cyclists were randomly separated into the FB group (n = 10) or Control group (n = 8). Gas exchange was measured breath by breath to measure ventilatory efficiency during an incremental test on a cycloergometer before (Pre) and after (Post) the nine weeks of training. The FB group showed higher peak power (Δ (95%HDI) (0.82 W/kg (0.49, 1.17)), VO2max (5.27 mL/kg/min (0.69, 10.83)) and VT1 (29.3 W (1.8, 56.7)) compared to Control at PostFINAL. The FB group showed lower values from Pre to PostPRE in minute ventilation (VE) (-21.0 L/min (-29.7, -11.5)), Breathing frequency (BF) (-5.1 breaths/min (-9.4, -0.9)), carbon dioxide output (VCO2) (-0.5 L/min (-0.7, -0.2)), respiratory equivalents for oxygen (EqO2) (-0.8 L/min (-2.4, 0.8)), heart rate (HR) (-5.9 beats/min (-9.2, -2.5)),, respiratory exchange ratio (RER) (-0.1 (-0.1, -0.0) and a higher value in inspiratory time (Tin) (0.05 s (0.00, 0.10)), expiratory time (Tex) (0.11 s (0.05, 0.17)) and end-tidal partial pressure of CO2 (PETCO2) (0.3 mmHg (0.1, 0.6)). In conclusion, RMT using FB seems to be a new and easy alternative ergogenic tool which can be used at the same time as day-to-day training for performance enhancement.


Assuntos
Exercício Físico , Respiração , Exercícios Respiratórios , Dióxido de Carbono , Teste de Esforço , Consumo de Oxigênio , Testes de Função Respiratória
11.
Ther Adv Rare Dis ; 2: 26330040211055738, 2021.
Artigo em Inglês | MEDLINE | ID: mdl-37181104

RESUMO

Marfan syndrome (MFS) is an autosomal dominantly inherited disorder affecting the cardiovascular, ocular and musculoskeletal systems. Frequently, clinical suspicion and subsequent diagnosis begins in the ophthalmology clinic. Importantly, the ophthalmologist has a responsibility to cater not only to the eye, but also to be involved in a holistic approach for these patients. In this review, we discuss how MFS may present to an eye clinic, including clinical features, ocular morbidity, genetic diagnosis and management. Although this condition is ideally managed by a multidisciplinary team, our focus will be on MFS and the eye, including other conditions which may present with similar phenotypes. The ophthalmologist's role as the potential first contact for a patient with suspected MFS is crucial in making the proper investigations and referral, with the knowledge that not all ectopia lentis cases are MFS and vice versa. Management of ocular conditions in MFS may range from simple observation to surgical intervention; current options will be discussed.


Eye problems in Marfan Syndrome ­ A Review Marfan syndrome (MFS) is an inherited disorder that affects many systems of the body, including the heart, joints, skeleton, skin and eyes. Although the more dangerous problems caused by this are to do with the heart and blood vessels, it is quite often that such patients are first found by eye doctors. They are either seen due to being very short-sighted or with dislocated lenses which can cause major problems in the eye. Eye problems can be managed by regular observation, although they often require surgery. Because eye doctors are often the first to see these patients, they must involve other doctors of different specialities to help in diagnosing and managing important issues these patients may have, especially affecting the heart and major blood vessels. Confirmation of diagnosis is done through genetic testing, which has advanced greatly, finding new mutations which may contribute to this disorder. Genetic counselling services can help families in understanding their diagnosis and making better informed decisions about future family planning as well as screening other family members. The eye is just one part of this complex genetic disease. We look in detail at how eye doctors can best approach such patients.

12.
Lancet ; 394(10216): 2263-2270, 2019 12 21.
Artigo em Inglês | MEDLINE | ID: mdl-31836196

RESUMO

BACKGROUND: Irbesartan, a long acting selective angiotensin-1 receptor inhibitor, in Marfan syndrome might reduce aortic dilatation, which is associated with dissection and rupture. We aimed to determine the effects of irbesartan on the rate of aortic dilatation in children and adults with Marfan syndrome. METHODS: We did a placebo-controlled, double-blind randomised trial at 22 centres in the UK. Individuals aged 6-40 years with clinically confirmed Marfan syndrome were eligible for inclusion. Study participants were all given 75 mg open label irbesartan once daily, then randomly assigned to 150 mg of irbesartan (increased to 300 mg as tolerated) or matching placebo. Aortic diameter was measured by echocardiography at baseline and then annually. All images were analysed by a core laboratory blinded to treatment allocation. The primary endpoint was the rate of aortic root dilatation. This trial is registered with ISRCTN, number ISRCTN90011794. FINDINGS: Between March 14, 2012, and May 1, 2015, 192 participants were recruited and randomly assigned to irbesartan (n=104) or placebo (n=88), and all were followed for up to 5 years. Median age at recruitment was 18 years (IQR 12-28), 99 (52%) were female, mean blood pressure was 110/65 mm Hg (SDs 16 and 12), and 108 (56%) were taking ß blockers. Mean baseline aortic root diameter was 34·4 mm in the irbesartan group (SD 5·8) and placebo group (5·5). The mean rate of aortic root dilatation was 0·53 mm per year (95% CI 0·39 to 0·67) in the irbesartan group compared with 0·74 mm per year (0·60 to 0·89) in the placebo group, with a difference in means of -0·22 mm per year (-0·41 to -0·02, p=0·030). The rate of change in aortic Z score was also reduced by irbesartan (difference in means -0·10 per year, 95% CI -0·19 to -0·01, p=0·035). Irbesartan was well tolerated with no observed differences in rates of serious adverse events. INTERPRETATION: Irbesartan is associated with a reduction in the rate of aortic dilatation in children and young adults with Marfan syndrome and could reduce the incidence of aortic complications. FUNDING: British Heart Foundation, the UK Marfan Trust, the UK Marfan Association.


Assuntos
Bloqueadores do Receptor Tipo 1 de Angiotensina II/administração & dosagem , Aorta/diagnóstico por imagem , Irbesartana/administração & dosagem , Síndrome de Marfan/tratamento farmacológico , Adolescente , Adulto , Bloqueadores do Receptor Tipo 1 de Angiotensina II/farmacologia , Aorta/efeitos dos fármacos , Criança , Método Duplo-Cego , Esquema de Medicação , Ecocardiografia , Feminino , Humanos , Irbesartana/farmacologia , Masculino , Síndrome de Marfan/diagnóstico por imagem , Resultado do Tratamento , Reino Unido , Adulto Jovem
13.
Gac Sanit ; 32 Suppl 1: 13-16, 2018 10.
Artigo em Espanhol | MEDLINE | ID: mdl-30243780

RESUMO

Terms such as community or community health are used more and more frequently and in multiple contexts. As healthcare workers, we acknowledge the need to reflect upon these concepts in order to shed light on the different meanings we bestow on community health. This dialogue approaches the notion of the community examining its relationships with other notions; for example, we examine how the notion of territory could trigger both communitarian networks and exclusionary practices. On the other hand, the practices that identify and help in building what is "communal" are perceived as more inclusive and as a starting point to think about what communities mean. Far from a naive vision of the community as a non-hierarchical structure, this dialogue exposes the risks of reproducing inequalities within the communities we work with. Therefore, we propose maintaining an active dialogue within the communities to collectively rename the real experienced conditions that need to be transformed. Finally, this dialogue reflects upon the professional roles arising from the different approaches to community health and the sociopolitical implications that this diversity entails.


Assuntos
Redes Comunitárias , Saúde Pública , Humanos , Relatório de Pesquisa , Sociedades Médicas , Espanha , Terminologia como Assunto
14.
Actas Esp Psiquiatr ; 45(5): 185-200, 2017 Sep.
Artigo em Inglês | MEDLINE | ID: mdl-29044444

RESUMO

INTRODUCTION: Depression is a main cause of disability and it is a priority public health problem among the elderly because of its significant consequences regarding morbidity and mortality, especially in women. METHODS: We selected records of people aged 65 and over out of the 2014 European Health Survey in Spain (n=6,520). We then performed a descriptive analysis stratified by gender of relevant variables such as demographic, socioeconomic, health status, health care and health determinants. We studied its connection with the presence of depressive disorders diagnosed by the PHQ-8 questionnaire. In a second phase we adjusted logistic regression models in order to assess depressive disorders based on the significant variables. RESULTS: 12.6% of depressive disorders are detected (16.8% women; 7.1% men). Many of the variables are related to depressive disorders in bivariate analysis; however, only a regular or bad/very bad perceived state of health (ORm=6.7; ORw=3.8); bedrest; the difficulty or inability to walk; and severe (ORm=3.5, ORw=2) and extreme pain (ORm=5; ORw=3.9) remain after multivariate adjustment in both sexes. Differentially depression in women is connected with not being able to read or write, the presence of chronic disease, and lack of interest from others; and in men a moderate degree of pain. CONCLUSIONS: The greater frequency and vulnerability of depression in elderly women may be connected to their educational level, their suffering from chronic diseases and social support. Longitudinal studies need to be undertaken to confirm the role and influence of these factors.


Assuntos
Transtorno Depressivo/epidemiologia , Idoso , Estudos Transversais , Feminino , Humanos , Masculino , Autorrelato , Distribuição por Sexo , Fatores Sexuais , Espanha/epidemiologia
15.
Br J Hosp Med (Lond) ; 77(1): 38-41, 2016 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-26903455

RESUMO

Genetic testing is aiding rapid diagnosis of Marfan syndrome as a basis for management of eye, heart and skeletal disease. The affected patient's mutation can be used as a basis for prenatal or postnatal diagnosis of offspring. Preimplantation genetic diagnosis, the technique of choice, can ensure an unaffected pregnancy.


Assuntos
Testes Genéticos/métodos , Síndrome de Marfan/genética , Amniocentese/métodos , Amostra da Vilosidade Coriônica/métodos , Doenças do Tecido Conjuntivo/genética , Doenças do Tecido Conjuntivo/fisiopatologia , Fibrilinas , Humanos , Proteínas dos Microfilamentos/genética , Mutação , Fenótipo , Diagnóstico Pré-Implantação/métodos , Diagnóstico Pré-Natal/métodos
16.
Eur Cardiol ; 11(2): 102-110, 2016 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-30310455

RESUMO

Marfan syndrome (MFS) is a disease in which connective tissue becomes weak secondary to fibrillin-1 mutations, resulting in aortic dilatation, aneurysm formation, aortic dissection, aortic regurgitation and mitral valve prolapse. This autosomal dominantly inherited condition, which was first reported in 1895 and was more fully described in 1931, is characterised by abnormal Fibrillin-1 protein (FBN1) (discovered in 1990), which is encoded by the FBN1 gene (reported in 1991). In the 1970s, the life expectancy of people with MFS was 40-50 years, mainly due to increased risk of aortic dissection or heart failure from aortic or mitral regurgitation. However, due to advances in medical and surgical therapy, life expectancy has improved dramatically and is now comparable to that of the general population. We discuss the cardiac manifestations of MFS, the incidence of arrhythmia in this population, the standard of medical care for arrhythmia and valve insufficiency, and a new use of preventive medication to preserve the integrity of the aortic wall in patients with MFS.

17.
Pacing Clin Electrophysiol ; 38(2): 196-200, 2015 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-25469647

RESUMO

BACKGROUND: Vernakalant is an available drug for the treatment of recent-onset atrial fibrillation, producing conversion between 55% and 87% of the patients treated. In this sense, little is known about the predictors of conversion with this agent. The aim of our study was to analyze the predictors of conversion in our 2-year experience using vernakalant for the treatment of recent-onset atrial fibrillation. METHODS: One hundred twenty-one patients with recent-onset atrial fibrillation without hemodynamic impairment received pharmacological treatment with vernakalant. Clinical variables, history of cardiovascular diseases, and echocardiographic data were recorded. RESULTS: Mean age was 58.1 ± 13.9 years and 13.4% of patients had structural heart disease. Conversion to sinus rhythm was achieved in 84.5% of patients, and 46% required the second dose of vernakalant. After analyzing the predictors of conversion, the presence of structural heart disease was significantly larger in the group without conversion (35.3 vs 9.7%; P = 0.02). The mean ejection fraction in the group with conversion was 61.05 ± 5.7% versus 54.9 ± 8.4% in the group without conversion (P = 0.016). After dichotomizing the variable ejection fraction, patients with ejection fraction <55% had a lower conversion rate (P = 0.001). CONCLUSION: In our study, the absence of any kind of structural heart disease and preserved systolic function were associated with greater conversion rate with vernakalant.


Assuntos
Anisóis/uso terapêutico , Fibrilação Atrial/diagnóstico , Fibrilação Atrial/tratamento farmacológico , Insuficiência Cardíaca/diagnóstico , Insuficiência Cardíaca/tratamento farmacológico , Pirrolidinas/uso terapêutico , Antiarrítmicos/uso terapêutico , Fibrilação Atrial/complicações , Feminino , Insuficiência Cardíaca/complicações , Humanos , Masculino , Pessoa de Meia-Idade , Prognóstico , Reprodutibilidade dos Testes , Estudos Retrospectivos , Sensibilidade e Especificidade , Resultado do Tratamento
18.
Clin Genet ; 87(3): 284-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-24635535

RESUMO

Inherited ectopia lentis (EL) is most commonly caused by Marfan syndrome (MFS), a multisystemic disorder caused by mutations in FBN1. Historically the diagnosis for patients with EL who have no systemic features of MFS is isolated EL (IEL). However, the Ghent nosology for MFS was updated in 2010 and made some important alterations. In particular, patients with EL and a FBN1 mutation are now categorically diagnosed with MFS, if their mutation has previously been described with aortic dilation/dissection. This carries significant systemic implications, as many patients previously diagnosed with IEL are now reclassified. We provide a review of all published cases of IEL caused by FBN1 mutations over the last 20 years to assess what impact the new Ghent nosology has on these. Indeed, 57/123 probands (46.3%) are now classified as MFS according to the revised Ghent nosology and 37/96 mutations (38.5%) reported to cause isolated EL have also been found in patients with aortic dilation/dissection. These findings suggest that EL caused by mutations in FBN1 is actually part of a spectrum of fibrillinopathies with MFS, and the term 'IEL' should be avoided in such cases.


Assuntos
Ectopia do Cristalino/diagnóstico , Ectopia do Cristalino/genética , Proteínas dos Microfilamentos/genética , Mutação , Fibrilina-1 , Fibrilinas , Genótipo , Humanos , Fenótipo
19.
Rev. argent. cardiol ; 82(4): 316-315, ago. 2014. ilus, tab
Artigo em Espanhol | LILACS | ID: lil-734517

RESUMO

Introducción El dolor precordial representa el 5% al 10% de las consultas anuales en los departamentos de emergencias; su diagnóstico suele ser dificultoso y a ello se le suma el problema que implican la externación de pacientes con patología coronaria aguda o las internaciones innecesarias. Esto ha llevado al desarrollo de diferentes sistemáticas para la evaluación de estos pacientes. Objetivo Validar en términos de seguridad y tiempos de estadía hospitalaria un nuevo algoritmo incorporado en nuestro centro que incluye la medición de troponina T de alta sensibilidad en pacientes con sospecha de síndrome coronario agudo. Material y métodos Se incluyeron 528 pacientes que consultaron en el servicio de emergencias con sospecha de síndrome coronario agudo y se les realizó el protocolo de unidad de dolor. Se analizaron variables clínicas, de laboratorio y el resultado de las pruebas funcionales efectuadas. En todos los pacientes se efectuó seguimiento a los 30 días. Resultados El 90,7% de los pacientes fueron externados luego de la observación y al seguimiento el 1,25% había presentado un evento cardíaco, representado por angioplastia coronaria e internación por síndrome coronario agudo; la especificidad del algoritmo global para el diagnóstico de síndrome coronario agudo fue del 97% y el valor predictivo negativo fue del 99%. El tiempo de estadía en el servicio de emergencias del total de los pacientes fue de 4,5 ± 2,5 horas. Conclusión El nuevo algoritmo incorporado en nuestro centro con determinación de troponina T de alta sensibilidad en pacientes con sospecha de síndrome coronario agudo demostró que es seguro al evitar la externación de pacientes que cursaban un síndrome coronario agudo y, a la vez, requiere una corta estadía hospitalaria en el servicio de emergencias.


Introduction Chest pain represents 5 to 10% of annual visits to emergency departments. Its diagnosis is sometimes difficult, with the added problem of inappropriate discharge of patients with acute coronary syndrome or unnecessary hospitalizations. This has led to the development of different algorithms for the evaluation of these patients. Objective The aim of this study was to validate, in terms of safety and length of hospital stay, a novel algorithm incorporated in our center, which includes measurement of high-sensitivity troponin T in patients with suspected acute coronary syndrome. Methods The study included 528 consecutive patients attending the emergency department with suspected acute coronary syndrome and evaluated according to the chest pain unit protocol. Clinical and laboratory variables and functional tests were analyzed. Follow-up at 30 days was performed in all the patients. Results After observation, 90.7% of the patients were discharged and 1.25% presented a cardiovascular event during follow-up, represented by percutaneous coronary intervention and hospitalization due to acute coronary syndrome. The specificity of the global algorithm for the diagnosis of acute coronary syndrome was 97% with a negative predictive value of 99%. Emergency department length of stay was 4.5 ± 2.5 hours for all the patients. Conclusion The novel algorithm incorporated in our center with measurement of high-sensitivity troponin T in patients with suspected acute coronary syndrome has proved to be safe, as it prevents the discharge of patients with acute coronary syndrome and at the same time reduces emergency department length of stay.

20.
Cardiol J ; 21(3): 304-8, 2014.
Artigo em Inglês | MEDLINE | ID: mdl-23990184

RESUMO

BACKGROUND: Vernakalant is a new, safe and effective drug used intravenously, which has proved to be more rapid in converting recent onset atrial fibrillation (AF) to sinus rhythm compared to placebo, amiodarone, propafenone, and flecainide in clinical studies. Until now no study has been conducted comparing the perception of state of health in patients who received vernakalant versus propafenone or flecainide for conversion of recent-onset AF. The aim of our study is to compare the change of perception of state of health from screening to hour 2 in patients treated with vernakalant and propafenone or flecainide for conversion of recent-onset AF. METHODS: Eighty hemodynamically stable patients with recent onset AF without structural heart disease were prospectively included. A single oral dose of propafenone 600 mg was administered to 30 patients, 30 patients received intravenous vernakalant and the remaining 20 patients received a single oral dose of flecainide 300 mg. Clinical, laboratory variables and perception of state of health from screening to hour 2 treated with these drugs measured by the EQ-5 D quality-of-life assessments visual analog scale were recorded. RESULTS: Baseline characteristics were similar in the three groups. Treatment with vernakalant resulted in a significantly greater improvement in patient perception of state of health at hour 2 compared with propafenone and flecainide. In the vernakalant group, a mean increase (from baseline) of 12.1 points was seen compared with a mean increase of 5.4 points in the propafenone group or 5.2 points in flecainide group (p < 0.01). CONCLUSIONS: The change of perception of state of health from screening to hour 2 treated with vernakalant had a significantly statistical improvement compared with propafenone or flecainide for conversion recent-onset AF.


Assuntos
Anisóis/administração & dosagem , Fibrilação Atrial/tratamento farmacológico , Nível de Saúde , Percepção , Pirrolidinas/administração & dosagem , Qualidade de Vida , Administração Oral , Idoso , Fibrilação Atrial/psicologia , Relação Dose-Resposta a Droga , Quimioterapia Combinada , Feminino , Flecainida/administração & dosagem , Humanos , Injeções Intravenosas , Masculino , Pessoa de Meia-Idade , Propafenona/administração & dosagem , Estudos Prospectivos , Resultado do Tratamento , Bloqueadores do Canal de Sódio Disparado por Voltagem/administração & dosagem
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