Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease.

The 3-dimensional spatial and 2-dimensional frontal QRS-T angles are measures derived from the vectorcardiogram. They are independent risk predictors for arrhythmia, but the underlying biology is unknown. Using multi-ancestry genome-wide association studies we identify 61 (58 previously unreported) loci for the spatial QRS-T angle (N = 118,780) and 11 for the frontal QRS-T angle (N = 159,715). Seven out of the 61 spatial QRS-T angle loci have not been reported for other electrocardiographic measures. Enrichments are observed in pathways related to cardiac and vascular development, muscle contraction, and hypertrophy. Pairwise genome-wide association studies with classical ECG traits identify shared genetic influences with PR interval and QRS duration. Phenome-wide scanning indicate associations with atrial fibrillation, atrioventricular block and arterial embolism and genetically determined QRS-T angle measures are associated with fascicular and bundle branch block (and also atrioventricular block for the frontal QRS-T angle). We identify potential biology involved in the QRS-T angle and their genetic relationships with cardiovascular traits and diseases, may inform future research and risk prediction

Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.

The QT interval is an electrocardiographic measure representing the sum of ventricular depolarization and repolarization, estimated by QRS duration and JT interval, respectively. QT interval abnormalities are associated with potentially fatal ventricular arrhythmia. Using genome-wide multi-ancestry analyses (>250,000 individuals) we identify 177, 156 and 121 independent loci for QT, JT and QRS, respectively, including a male-specific X-chromosome locus. Using gene-based rare-variant methods, we identify associations with Mendelian disease genes. Enrichments are observed in established pathways for QT and JT, and previously unreported genes indicated in insulin-receptor signalling and cardiac energy metabolism. In contrast for QRS, connective tissue components and processes for cell growth and extracellular matrix interactions are significantly enriched. We demonstrate polygenic risk score associations with atrial fibrillation, conduction disease and sudden cardiac death. Prioritization of druggable genes highlight potential therapeutic targets for arrhythmia. Together, these results substantially advance our understanding of the genetic architecture of ventricular depolarization and repolarization

Chapter 12: Prognostic Stratification and Importance of Follow-Up

In the last decades, long-term survival of patients affected by dilated cardiomyopathy (DCM) has been markedly improved. The main milestones, such as the early diagnosis and the systematic follow-up, the proper etiological characterization at the onset of the disease, and a multidisciplinary approach to the patients together with the optimal medical and device treatment and the rigorous tailored follow-up, accompanied these prognostic improvements. However, DCM still remains the most common cause of heart transplantation and one of the leading causes of cardiac death in the western world. Therefore, proper prognostic stratification and systematic follow-up are the cornerstones to optimize medical management and improve outcomes of patients with DCM

Prospective electromyographic evaluation of functional postthyroidectomy voice and swallowing symptoms

Voice and swallowing symptoms following thyroidectomy in the absence of any demonstration of laryngeal nerves injury are usually considered a functional outcome of uncomplicated operations, mainly related to scar formation and emotional reaction. They could be related to unapparent laryngeal nerve or cricothyroid (CT) muscle injuries detectable only by laryngeal electromyography (LEMG). We correlated such symptoms with LEMG patterns

Guidelines for the diagnosis and treatment of chronic heart failure: executive summary (update 2005)

The aim of these guidelines is to provide updated practical guidelines for the diagnosis, assessment, and treatment of heart failure for use in clinical practice, as well as for epidemiological surveys and clinical trials. Particular attention in this update has been allocated to diastolic function and heart failure with preserved left ventricular ejection fraction (PLVEF). The intention has been to merge the previous Task Force report4 with the present update. The Guidelines are intended as a support for practising physicians and other health care professionals concerned with the management of heart failure patients and to provide advice on how to manage these patients, including recommendations for referral. Documented and published evidence on diagnosis, efficacy, and safety is the main basis for these guidelines

O conhecimento de pediatras sobre alergia alimentar: estudo piloto Pediatricians' knowledge on food allergy: pilot study

OBJETIVO: Avaliar o conhecimento de pediatras sobre alergia alimentar. MÉTODOS: Dados obtidos de questionário padronizado, postado e respondido por pediatras filiados à Sociedade Brasileira de Pediatria (SBP). Digitação dos dados em planilha Excel e análise de freqüência de respostas afirmativas em porcentagem. RESULTADOS: Foram analisados 895 questionários preenchidos por pediatras de todo o país, com predomínio da região Sudeste (61,6%). Segundo os pediatras entrevistados, as manifestações diagnósticas de alergia alimentar são: respiratórias, cutâneas e sistêmicas, em iguais proporções. Ainda segundo estes pediatras, leite de vaca (98,9%), clara de ovo (58,7%) e amendoim (50,9%) são os principais alimentos associados a essas manifestações. Embora 74,8% dos respondedores tivessem identificados os corantes e aditivos alimentares como responsáveis pela alergia alimentar, apenas 19,4% conheciam o código de identificação da tartrazina. CONCLUSÕES: Os dados apresentados reforçam a necessidade de ampliação dos conhecimentos dos profissionais de saúde sobre o diagnóstico e tratamento da alergia alimentar, com o objetivo de garantir o uso de critérios diagnósticos e terapêuticos mais adequados.<br>OBJECTIVE: To evaluate the knowledge of Brazilian pediatricians about food allergy. METHODS: Data was obtained from a sent back posted written questionnaire. It was filled in by Brazilian pediatricians, affiliated to the Brazilian Society of Pediatrics. Data was transcript to an Excel spread sheet and the frequency of affirmative responses was reported as percentages. RESULTS: Data from 895 written questionnaire of pediatricians from all over Brazil, (mainly from the southeastern region - 61.6%), were analyzed. The main clinical expressions of food allergy determined by the pediatricians were: respiratory, cutaneous and systemic symptoms (equal proportions). According to these pediatricians, cow's milk (98.9%), egg white (58.7%) and peanuts (50.9%) were the main allergens related to food allergy symptoms. Although 74.8% of the responders have indicated food dyes and food additives as associated to food allergies, only 19.4% of them knew the identification code of tartrarzine. CONCLUSIONS: The presented data reinforce the need to improve the pediatricians' knowledge about the diagnosis and treatment of food allergy, in order to assure the use of appropriate diagnostic and treatment criteria

Video-assisted thyroidectomy significantly reduces the risk of early postthyroidectomy voice and swallowing symptoms

BACKGROUND: Voice and swallowing symptoms are frequently reported after thyroidectomy even in absence of objective voice alterations. We evaluated the influence of the video-assisted approach on voice and swallowing outcome of thyroidectomy. METHODS: Sixty-five patients undergoing total thyroidectomy (TT) were recruited. Eligibility criteria were: nodule size<or=30 mm, thyroid volume<or=30 ml, no previous neck surgery. Exclusion criteria were: younger than aged 18 years and older than aged 75 years, vocal fold paralysis, history of voice, laryngeal or pulmonary diseases, malignancy other than papillary thyroid carcinoma. Patients were randomized for video-assisted (VAT) or conventional (CT) thyroidectomy. Videostrobolaryngoscopy (VSL), acoustic voice analysis (AVA), and maximum phonation time (MPT) evaluation were performed preoperatively and 3 months after TT. Subjective evaluation of voice (voice impairment score=VIS) and swallowing (swallowing impairment score=SIS) were obtained preoperatively, 1 week, 1 month, and 3 months after TT. RESULTS: Fifty-three patients completed the postoperative evaluation: 29 in the VAT group, and 24 in the CT group. No laryngeal nerves injury was shown at postoperative VSL. Mean postoperative MPT, F0, Flow, Fhigh, and the number of semitones were significantly reduced in the CT group but not in the VAT group. Mean VIS 3 months after surgery was significantly higher than preoperatively in CT group but not in the VAT group. Mean SIS was significantly decreased 1 and 3 months after VAT but not after CT. CONCLUSIONS: The incidence and the severity of early voice and swallowing postthyroidectomy symptoms are significantly reduced in patients who undergo VAT compared with conventional surgery