Emery-Dreifuss muscular dystrophy Type 1 is associated with a high risk of malignant ventricular arrhythmias and end-stage heart failure.

BACKGROUND AND AIMS: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants. METHODS: Consecutively referred EMD variant-carriers were retrospectively recruited from 12 international cardiomyopathy units. MVA and ESHF incidences in male and female variant-carriers were determined. Male EMD variant-carriers with a cardiac phenotype at baseline (EMDCARDIAC) were compared with consecutively recruited male LMNA variant-carriers with a cardiac phenotype at baseline (LMNACARDIAC). RESULTS: Longitudinal follow-up data were available for 38 male and 21 female EMD variant-carriers [mean (SD) ages 33.4 (13.3) and 43.3 (16.8) years, respectively]. Nine (23.7%) males developed MVA and five (13.2%) developed ESHF during a median (inter-quartile range) follow-up of 65.0 (24.3-109.5) months. No female EMD variant-carrier had MVA or ESHF, but nine (42.8%) developed a cardiac phenotype at a median (inter-quartile range) age of 58.6 (53.2-60.4) years. Incidence rates for MVA were similar for EMDCARDIAC and LMNACARDIAC (4.8 and 6.6 per 100 person-years, respectively; log-rank P = .49). Incidence rates for ESHF were 2.4 and 5.9 per 100 person-years for EMDCARDIAC and LMNACARDIAC, respectively (log-rank P = .09). CONCLUSIONS: Male EMD variant-carriers have a risk of progressive heart failure and ventricular arrhythmias similar to that of male LMNA variant-carriers. Early implantable cardioverter defibrillator implantation and heart failure drug therapy should be considered in male EMD variant-carriers with cardiac disease.

A single plain ring is not associated with increased bacterial load on hands: An experimental study among healthcare worker students undertaking mock surgery.

BACKGROUND: Adequate hand hygiene is considered as one of the most effective strategies in healthcare-related infection prevention. The potential negative effect of rings in hand disinfection and thus, in increased nosocomial infections rates is still controversial. Therefore, the present study was designed with the purpose of examining if rings frequently exposed to surgical scrubbing were associated or not with increased bacterial counts. METHODS: 32 volunteers were randomized into 4 groups: A (no rings), B (participants wore a ring), C (no rings and performed surgical scrubbing with chlorhexidine every 48 h) and D (participants wore a ring and performed surgical scrubbing every 48 h). Glove juice samples were obtained at day 0 (T0) and after a 90-min mock-surgery on day 14 (T1). Quantitative (number of UFC/mL) and qualitative data (microorganism type) were collected as study variables. RESULTS: All groups were comparable at T0. All ring carriers obtained negative cultures at T1. Ring presence was not associated with higher bacterial counts; comparisons between A vs B groups and C vs D groups showed no statistically significant differences (p = 0.076 and 1.000). T1 negative cultures were more frequent in participants performing surgical scrubbing every second day (93.8 % vs 75 %), although this difference did not reach statistical significance (p = 0.332). CONCLUSIONS: The presence of single plain ring does not seem to be associated with an increased hand bacterial load. Regular surgical scrubbing with chlorhexidine impregnated sponges reduces bacterial contamination of hands, even in the presence of plain rings.

Frequency and characteristics of asthma in smokers attending smoking cessation units in Spain.

INTRODUCTION: The interaction between smoking and asthma impairs lung function and increases airflow obstruction severity. The identification of smoking patterns in smokers with and without asthma is crucial to provide the best care strategies. The aims of this study are to estimate asthma frequency, describe asthma features, and characterize smoking in smokers attending smoking cessation units. MATERIAL AND METHODS: We carried out a cross-sectional study in five smoking cessation units with different geographical distribution to estimate asthma frequency in smokers, characterize asthma features in smokers, as well as smoking in asthmatic smokers. RESULTS: Asthma frequency among smokers was 18.6%. Asthmatic smokers presented high passive exposure, low smoking self-efficacy and will to quit smoking, as well as a high exacerbation frequency, severe symptoms, and frequent use of long-acting beta agonists, inhaled steroids, and short-acting beta agonists. DISCUSSION: Smokers with asthma constitute a high-risk group with worsened evolution of pulmonary involvement. All smokers should be regularly screened for asthma. Effective smoking cessation strategies should be proposed to smokers with asthma in order to reverse the harmful effects of smoking on the airway, together with a comprehensive and integral approach.

Predictors and outcomes of pacemaker implantation in patients with cardiac amyloidosis.

OBJECTIVE: We sought to investigate prevalence, incidence and prognostic implications of permanent pacemaker (PPM) implantation in patients with cardiac amyloidosis (CA), thereby identifying the predictors of time to PPM implantation. METHODS: Seven hundred eighty-seven patients with CA (602 men, median age 74 years, 571 transthyretin amyloidosis (ATTR), 216 light-chain amyloidosis (AL)) evaluated at two European referral centres were retrospectively included. Clinical, laboratory and instrumental data were analysed. The associations between PPM implantation and mortality, heart failure (HF) or a composite endpoint of mortality, cardiac transplantation and HF were analysed. RESULTS: 81 (10.3%) patients had a PPM before initial evaluation. Over a median follow-up time of 21.7 months (IQR 9.6-45.2), 81 (10.3%) additional patients (18 with AL (22.2%) and 63 with ATTR (77.8%)) underwent PPM implantation with a median time to implantation of 15.6 months (IQR 4.2-40), complete atrioventricular block was the most common indication (49.4%). Independent predictors of PPM implantation were QRS duration (HR 1.03, 95% CI 1.02 to 1.03, p<0.001) and interventricular septum (IVS) thickness (HR 1.1, 95% CI 1.03 to 1.17, p=0.003). The model to estimate the probability of PPM at 12 months and containing both factors showed a C-statistic of 0.71 and a calibration of slope of 0.98. CONCLUSIONS: Conduction system disease requiring PPM is a common complication in CA that affects up to 20.6% of patients. QRS duration and IVS thickness are independently associated with PPM implantation. A PPM implantation at 12 months model was devised and validated to identify patients with CA at higher risk of requiring a PPM and who require closer follow-up.

Development and Validation of a Prediction Model and Score for Transthyretin Cardiac Amyloidosis Diagnosis: T-Amylo.

BACKGROUND: Although transthyretin cardiac amyloidosis (ATTR-CA) is often underdiagnosed, clinical suspicion is essential for early diagnosis. OBJECTIVES: The aim of this study was to develop and validate a feasible prediction model and score to facilitate the diagnosis of ATTR-CA. METHODS: This retrospective multicenter study enrolled consecutive patients who underwent 99mTc-DPD scintigraphy for suspected ATTR-CA. ATTR-CA was diagnosed if Grade 2 or 3 cardiac uptake was evidenced on 99mTc-DPD scintigraphy in the absence of a detectable monoclonal component or by demonstration of amyloid by biopsy. A prediction model for ATTR-CA diagnosis was developed in a derivation sample of 227 patients from 2 centers using multivariable logistic regression with clinical, electrocardiography, analytical, and transthoracic echocardiography variables. A simplified score was also created. Both of them were validated in an external cohort (n = 895) from 11 centers. RESULTS: The obtained prediction model combined age, gender, carpal tunnel syndrome, interventricular septum in diastole thickness, and low QRS interval voltages, with an area under the curve (AUC) of 0.92. The score had an AUC of 0.86. Both the T-Amylo prediction model and the score showed a good performance in the validation sample (ie, AUC: 0.84 and 0.82, respectively). They were tested in 3 clinical scenarios of the validation cohort: 1) hypertensive cardiomyopathy (n = 327); 2) severe aortic stenosis (n = 105); and 3) heart failure with preserved ejection fraction (n = 604), all with good diagnostic accuracy. CONCLUSIONS: The T-Amylo is a simple prediction model that improves the prediction of ATTR-CA diagnosis in patients with suspected ATTR-CA.

Frequency of hereditary transthyretin amyloidosis among elderly patients with transthyretin cardiomyopathy.

AIMS: Transthyretin amyloid cardiomyopathy (ATTR-CM) is increasingly recognized as a cause of heart failure in the elderly. Although wild-type transthyretin amyloidosis is the most frequent form of ATTR-CM found in the elderly, hereditary transthyretin amyloidosis (ATTRv) can also occur. We sought to determine the prevalence of ATTRv among elderly ATTR-CM patients, identify predictors of ATTRv and evaluate the clinical consequences of positive genetic testing in this population. METHODS AND RESULTS: Prevalence of ATTRv in elderly ATTR-CM patients (≥70 years) was assessed in a cohort of 300 consecutive ATTR-CM patients (median age 78 years at diagnosis, 82% ≥70 years, 16% female, 99% Caucasian). ATTRv was diagnosed in 35 (12%; 95% confidence interval [CI] 3.1-8.8) and 13 (5.3%; 95% CI 5.6-26.7) patients in the overall cohort and in those ≥70 years, respectively. Prevalence of ATTRv among elderly female patients with ATTR-CM was 13% (95% CI 2.1-23.5). Univariate analysis identified female sex (odds ratio [OR] 3.66; 95% CI 1.13-11.85; p = 0.03), black ancestry (OR 46.31; 95% CI 3.52-Inf; p = 0.005), eye symptoms (OR 6.64; 95% CI 1.20-36.73; p = 0.03) and polyneuropathy (OR 10.05; 95% CI 3.09-32.64; p < 0.001) as the only factors associated with ATTRv in this population. Diagnosis of ATTRv in elderly ATTR-CM patients allowed initiation of transthyretin-specific drug treatment in 5 individuals, genetic screening in 33 relatives from 13 families, and identification of 9 ATTRv asymptomatic carriers. CONCLUSIONS: Hereditary transthyretin amyloidosis is present in a substantial number of ATTR-CM patients aged ≥70 years. Identification of ATTRv in elderly patients with ATTR-CM has clinical meaningful therapeutic and diagnostic implications. These results support routine genetic testing in patients with ATTR-CM regardless of age.

Pregestational body mass index and risk of maternal adverse events. / Índice de masa corporal pregestacional y riesgo de eventos adversos maternos.

BACKGROUND: In women of reproductive age, pregestational overweight and/or obesity could result in negative outcomes for both, mother and child. OBJECTIVE: To investigate the association between pregestational body mass index (PBMI) and maternal adverse outcomes (MAO) during childbirth, in women assisted during 2014, in a public hospital in Mérida, Yucatán, Mexico. MATERIAL AND METHODS: 427 pregnant women assisted during childbirth were consecutively included, identifying among them those who did not have any MAO (n = 137), whose demographic and clinical data, including PBMI, were compared with those who did have at least one MAO (n = 290). Odds ratios (OR) and 95% confidence intervals (95% CI) were obtained using a binary logistic regression model (LRM). RESULTS: 33% had normal PBMI, and 37% had obesity. Urgent cesarean section was the most frequent MAO (58.8%). According to the LRM, schooling (secondary school level, OR: 0.56; 95% CI: 0.34-0.94), primigravidae ( OR: 6.88; 95% CI: 3.37-12.58), and secondigravidae women (OR: 5.57; 95% CI: 3.04-10.24), the number of prenatal visits (≥ 5, OR: 3.49; 95% CI: 1.54-7.91), and PBMI (overweight, OR: 0.41: 95% CI: 0.23-0.72) were identified as clinically and statistically significant. CONCLUSIONS: Women with overweight were at low risk for MAO, while schooling (secondary school level) reduced risk by 44%, being a primigravidae or a secondigravidae increased risk more than 6 and 5 times, respectively. Paradoxically, prenatal visits (≥ 5 medical visits) increased risk more than 3 times.

INTRODUCCIÓN: En la mujer en edad reproductiva, el sobrepeso y la obesidad pregestacional pueden ser adversos a los resultados de la gestación, tanto para la madre como para el producto. OBJETIVO: Investigar la asociación entre el índice de masa corporal pregestacional (IMCP) y los eventos adversos maternos (EAM) durante el nacimiento del producto, en gestantes atendidas en un cuatrimestre de 2014, en un hospital público de Mérida, Yucatán, México. MATERIAL Y MÉTODOS: Se incluyeron 427 gestantes y se identificaron las que no tuvieron ningún EAM (n = 137), cuyos datos demográficos y clínicos, incluido el IMCP, fueron comparados con los del grupo que tuvo alguno (n = 290). Se obtuvieron razones de momios (RM) e intervalos de confianza del 95% (IC 95%) con un modelo de regresión logística binario (MRL). RESULTADOS: El 33% de la muestra tenía IMCP normal, el 30% tenía sobrepeso y el 37% presentaba obesidad pregestacional. Fue la operación cesárea urgente el EAM más frecuente (58.8%). El MRL identificó como significativamente asociados a los EAM la escolaridad secundaria (RM: 0.56; IC 95%: 0.34-0.94), ser primigesta (RM: 6.88; IC 95%: 3.37-12.58), ser secundigesta (RM: 5.57; IC 95%: 3.04-10.24), el número de visitas prenatales (≥ 5, RM: 3.49; IC 95%: 1.54-7.91) y el IMCP (sobrepeso, RM: 0.41; IC 95%: 0.23-0.72). CONCLUSIONES: Tener sobrepeso pregestacional redujo el riesgo de EAM hasta un 59%, la educación secundaria lo redujo un 44%, ser primigesta lo incrementó más de seis veces, ser secundigesta lo incrementó más de cinco veces y tener ≥ 5 visitas prenatales paradójicamente lo incrementó más de tres veces.

Lung cancer in HIV-infected patients.

Our objective was to determine the prevalence and characteristics of lung cancer (LC) in HIV patients and compare them with LC patients from the general population. All HIV patients diagnosed at three hospitals in Malaga (southern Spain) who developed LC during January 1989-June 2012 were reviewed. They were compared with a sample of patients with LC taken from the Pneumology and Oncology Department of the Hospital Virgen de le Victoria (Malaga) during the same period. Of the 4721 HIV patients (83% men) followed-up during the study period, 61 (1.29%) developed LC: 82% were men, mean age 48 years, all except two were smokers, 47.5% had a prior lung infection, and the median CD4 count was 237 cells/mm(3). Forty (65.5%) patients were on antiretroviral therapy at LC diagnosis (70% had an undetectable viral load). The HIV-negative group was older at diagnosis, contained fewer active smokers, had a greater frequency of the squamous cell carcinoma histological subtype and fewer cases of adenocarcinoma. Presentation was advanced in both groups and the median survival of HIV patients was three months. LC is a common tumour in HIV patients. It affects men and women equally, with a history of smoking and often a prior opportunistic lung disease. Affected patients are often immunosuppressed and have had an AIDS-related diagnosis.