Is arrhythmogenic right ventricular cardiomyopathy a paediatric problem too?

Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a heart muscle disease that is often familial, characterized by arrhythmias of right ventricular origin, due to transmural fatty or fibrofatty replacement of atrophic myocardium. ARVC is usually diagnosed in the clinical setting between 20 and 40 years of age. The disease is seldom recognised in infancy or under the age of 10, probably because the clinical expression of the disease is normally postponed to youth and adulthood. This review focuses its attention to the pediatric age, defined as the period of life raging from birth to 18 years. During this span of life, ARVC is not so rare as previously supposed and can be identified by applying the same diagnostic criteria proposed for the adult. Ventricular arrhythmias range from isolated ventricular arrhythmias to sustained ventricular tachycardia and fibrillation. Children and adolescents with ARVC must be carefully evaluated and followed-up especially when a family positive history is present, taking into account the high probability during this life-period that asymptomatic affected patients become symptomatic or that arrhythmias worsen during follow-up. The recent identification of the first defective gene opens new avenues for the early identification of affected subjects even when asymptomatic.peer-reviewe

Bride & prejudice: the price of education

Leveraging the cultural practice of bride price could help amplify investments in female education and improve effects of large-scale school-building programmes. Without other subsidies, well-intentioned activism against bride-price may cause more harm than good for investing in girls’ education

Diet and health in Central-Southern Italy during the Roman Imperial time

The reconstruction of ancient diets by means of stable isotopes analysis acquires a deeper meaning when their results are compared with other odonto‐skeletal indicators which are strongly contextualized in the light of historical and archaeological evidence. Nevertheless, the outcomes can be contradictory or, more realistically, they may not completely satisfy our hypotheses on how complex and diverse conditions ‐ such as health status, life style, diet and nutrition ‐ can actually interrelate in the life course of an individual. In this study we present and discuss evidences from Isola Sacra and Velia, two Roman Imperial Age coastal towns. The δ15N and δ13C values are compared with demographic and health status parameters, such as age, sex, stature, auricular exostoses, DISH, cribra orbitalia, enamel defects

Traditional beliefs and learning about maternal risk in Zambia

Maternal mortality remains very high in many parts of the developing world, especially in sub-Saharan Africa. While maternal deaths are observable, it may not be straightforward for individuals to learn about risk factors. This paper utilizes novel data on male and female perceptions of maternal risk in Zambia to document that superstitions about causes of maternal mortality are pervasive and to uncover evidence that such beliefs impede learning about maternal health risk levels and correlates. In our data, people who hold traditional beliefs disregard past birth complications completely in assessing future risk, unlike those who hold modern beliefs

Thermal requirements of Doru lineare Eschs. and Doru luteipes Scudder in the laboratory

Algumas espécies de tesourinhas (Dermaptera: Forficulidae) são importantes predadoras da lagarta-do-cartucho do milho Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae). Neste trabalho, avaliou-se o efeito de temperaturas constantes no desenvolvimento de Doru luteipes (Scudder) e Doru lineare (Eschs.). D. luteipes não completou seu desenvolvimento nas temperaturas de 30 e 32°C, enquanto D. lineare não completou apenas na temperatura de 32°C. O período de incubação variou de 8,0 (25°C) a 17,2 dias (18°C) e de 4,6 (30°C) a 14,5 dias (18°C), para D. luteipes e D. lineare, respectivamente. A duração do período ninfal variou de 30,4 dias (25°C) a 63,6 dias (18°C), para D. luteipes, e de 20,4 dias (30°C) a 60,5 dias (18°C), para D. lineare. A duração do ciclo biológico (ovo-adulto) variou de 38,4 (25°C) a 80,8 dias (18°C), para D. luteipes, e de 25 (30°C) a 75 dias (18°C), para D. lineare. Portanto, as temperaturas elevadas foram desfavoráveis para ambas as espécies, observando-se que D. luteipes é mais susceptível à elevação térmica.Some Earwigs species (Dermaptera: Forficulidae) are important predators of the fall armyworm, Spodoptera frugiperda (J.E. Smith) (Lepidoptera: Noctuidae). The effects of constant temperatures on the development of Doru luteipes (Scudder) and Doru lineare (Eschs.) were evaluated. The development of D. luteipes was not completed at 30 and 32°C, whereas D. lineare did not complete only at 32°C. The incubation period ranged from 8.0 (25°C) to 17.2 days (18oC) for D. luteipes and D. lineare, respectively. The duration of the nymphal stage ranged from 30.4 (25°C) to 63.6 days (18°C) for D. luteipes and, from 20.4 (30°C) to 60.5 days (18°C) for D. lineare. The duration of the biological cycle (egg-adult) varied from 38.4 (25°C) to 80.8 days (18°C) for D. luteipes and from 25 (30°C) to 75 days (18°C) for D. lineare. Therefore, high temperatures were unfavorable for both species, but D. luteipes is more susceptible to higher temperatures

A new locus for arrhythmogenic right ventricular cardiomyopathy (ARVD2) maps to chromosome 1q42-q43

Autosomal dominant arrhythmogenic right ventricular cardiomyopathy (ARVD, MIM 107970) is one of the major causes of juvenile sudden death. We have previously assigned the disease locus to chromosome 14q23-q24. Here we report on a novel variant of ARVD, which is transmitted associated to 1q42-q43 and is characterized by a concealed form, showing effort-induced polymorphic tachycardias. Since both loci ARVD1 and ARVD2 map in proximity of a-actinin genes, the possible implication of these myofibrillar proteins in the pathogenesis of ARVD is discussed. Two additional ARVD families, tested with markers of chromosomes 1q42-q43 and 14q23-q24, failed to show linkage, providing evidence of further genetic heterogeneit

Ecological niche modelling for predicting the risk of cutaneous leishmaniasis in the Neotropical moist forest biome

A major challenge of eco-epidemiology is to determine which factors promote the transmission of infectious diseases and to establish risk maps that can be used by public health authorities. The geographic predictions resulting from ecological niche modelling have been widely used for modelling the future dispersion of vectors based on the occurrence records and the potential prevalence of the disease. The establishment of risk maps for disease systems with complex cycles such as cutaneous leishmaniasis (CL) can be very challenging due to the many inference networks between large sets of host and vector species, with considerable heterogeneity in disease patterns in space and time. One novelty in the present study is the use of human CL cases to predict the risk of leishmaniasis occurrence in response to anthropogenic, climatic and environmental factors at two different scales, in the Neotropical moist forest biome (Amazonian basin and surrounding forest ecosystems) and in the surrounding region of French Guiana. With a consistent data set never used before and a conceptual and methodological framework for interpreting data cases, we obtained risk maps with high statistical support. The predominantly identified human CL risk areas are those where the human impact on the environment is significant, associated with less contributory climatic and ecological factors. For both models this study highlights the importance of considering the anthropogenic drivers for disease risk assessment in human, although CL is mainly linked to the sylvatic and peri-urban cycle in Meso and South America. © 2019 Chavy et al. This is an open access article distributed under the terms of the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original author and source are credited

Missense mutations in Desmocollin-2 N-terminus, associated with arrhythmogenic right ventricular cardiomyopathy, affect intracellular localization of desmocollin-2 in vitro

<p>Abstract</p> <p>Background</p> <p>Mutations in genes encoding desmosomal proteins have been reported to cause arrhythmogenic right ventricular cardiomyopathy (ARVC), an autosomal dominant disease characterised by progressive myocardial atrophy with fibro-fatty replacement.</p> <p>We screened 54 ARVC probands for mutations in desmocollin-2 (<it>DSC2</it>), the only desmocollin isoform expressed in cardiac tissue.</p> <p>Methods</p> <p>Mutation screening was performed by denaturing high-performance liquid chromatography and direct sequencing.</p> <p>To evaluate the pathogenic potentials of the <it>DSC2 </it>mutations detected in patients affected with ARVC, full-length wild-type and mutated cDNAs were cloned in eukaryotic expression vectors to obtain a fusion protein with green fluorescence protein (GFP); constructs were transfected in neonatal rat cardiomyocytes and in HL-1 cells.</p> <p>Results</p> <p>We identified two heterozygous mutations (c.304G>A (p.E102K) and c.1034T>C (p.I345T)) in two probands and in four family members. The two mutations p.E102K and p.I345T map to the N-terminal region, relevant to adhesive interactions.</p> <p>In vitro functional studies demonstrated that, unlike wild-type DSC2, the two N-terminal mutants are predominantly localised in the cytoplasm.</p> <p>Conclusion</p> <p>The two missense mutations in the N-terminal domain affect the normal localisation of DSC2, thus suggesting the potential pathogenic effect of the reported mutations. Identification of additional DSC2 mutations associated with ARVC may result in increased diagnostic accuracy with implications for genetic counseling.</p

Who was buried with Nestor’s Cup? Macroscopic and microscopic analyses of the cremated remains from Tomb 168 (second half of the 8th century BCE, Pithekoussai, Ischia Island, Italy)

Cremation 168 from the second half of the 8th century BCE (Pithekoussai’s necropolis, Ischia Island, Italy), better known as the Tomb of Nestor’s Cup, is widely considered as one of the most intriguing discoveries in the Mediterranean Pre-Classic archaeology. A drinking cup, from which the Tomb’s name derives, bears one of the earliest surviving examples of written Greek, representing the oldest Homeric poetry ever recovered. According to previous osteological analyses, the Cup is associated with the cremated remains of a juvenile, aged approximately 10–14 years at death. Since then, a vast body of literature has attempted to explain the unique association between the exceptionality of the grave good complex, the symposiac and erotic evocation of the Nestor’s Cup inscription with the young age of the individual buried with it. This paper reconsiders previous assessments of the remains by combining gross morphology with qualitative histology and histomorphometric analyses of the burnt bone fragments. This work reveals the commingled nature of the bone assemblage, identifying for the first time, more than one human individual mixed with faunal remains. These outcomes dramatically change previous reconstructions of the cremation deposit, rewriting the answer to the question: who was buried with Nestor’s Cup

Sex-related morbidity and mortality in non-adult individuals from the Early Medieval site of Valdaro (Italy): the contribution of dental enamel peptide analysis

In this work, osteological and paleopathological analyses are combined with liquid-chromatography mass spectrometry to study life and death of 30 non-adult individuals from an Early Medieval Italian funerary context (Valdaro, 7th-8th cent. AD). We estimated individual sex by exploiting sexual differences in enamel-bounded peptides. Enamel proteins were extracted through an acid etching of the whole tooth crowns for 4 samples\ud and through a partial digestion of small enamel chunks for the remaining 26 samples. Both protocols were informative on the sex of the individuals through the identification of amelogenin isoforms (AMELX and AMELY). In addition, low-mineralized tooth germs were analysed and they provided reliable information on the infants’ sex. We observed the presence of 13 males and 17 females among the non-adults of Valdaro, not significantly different from a random sample with an equal frequency of males and females. Cribra cranii and endocranial lesion occurrence showed an association with sex, with higher frequencies in male individuals