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- Izdebski, Adam, et al.
(author)
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Realising consilience : How better communication between archaeologists, historians and natural scientists can transform the study of past climate change in the Mediterranean
- 2016
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In: Quaternary Science Reviews. - : Elsevier BV. - 0277-3791 .- 1873-457X. ; 136, s. 5-22
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Journal article (peer-reviewed)abstract
- This paper reviews the methodological and practical issues relevant to the ways in which natural scientists, historians and archaeologists may collaborate in the study of past climatic changes in the Mediterranean basin. We begin by discussing the methodologies of these three disciplines in the context of the consilience debate, that is, attempts to unify different research methodologies that address similar problems. We demonstrate that there are a number of similarities in the fundamental methodology between history, archaeology, and the natural sciences that deal with the past (palaeoenvironmental sciences), due to their common interest in studying societal and environmental phenomena that no longer exist. The three research traditions, for instance, employ specific narrative structures as a means of communicating research results. We thus present and compare the narratives characteristic of each discipline; in order to engage in fruitful interdisciplinary exchange, we must first understand how each deals with the societal impacts of climatic change. In the second part of the paper, we focus our discussion on the four major practical issues that hinder communication between the three disciplines. These include terminological misunderstandings, problems relevant to project design, divergences in publication cultures, and differing views on the impact of research. Among other recommendations, we suggest that scholars from the three disciplines should aim to create a joint publication culture, which should also appeal to a wider public, both inside and outside of academia.
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| 2. |
- Savarese, Marco, et al.
(author)
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Genotype-phenotype correlations in recessive titinopathies.
- 2020
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600 .- 1530-0366. ; 22:12, s. 2029-2040
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Journal article (peer-reviewed)abstract
- PURPOSE: High throughput sequencing analysis has facilitated the rapid analysis of the entire titin (TTN) coding sequence. This has resulted in the identification of a growing number of recessive titinopathy patients. The aim of this study was to (1) characterize the causative genetic variants and clinical features of the largest cohort of recessive titinopathy patients reported to date and (2) to evaluate genotype-phenotype correlations in this cohort.METHODS: We analyzed clinical and genetic data in a cohort of patients with biallelic pathogenic or likely pathogenic TTN variants. The cohort included both previously reported cases (100 patients from 81 unrelated families) and unreported cases (23 patients from 20 unrelated families).RESULTS: Overall, 132 causative variants were identified in cohort members. More than half of the cases had hypotonia at birth or muscle weakness and a delayed motor development within the first 12 months of life (congenital myopathy) with causative variants located along the entire gene. The remaining patients had a distal or proximal phenotype and a childhood or later (noncongenital) onset. All noncongenital cases had at least one pathogenic variant in one of the final three TTN exons (362-364).CONCLUSION: Our findings suggest a novel association between the location of nonsense variants and the clinical severity of the disease.
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| 3. |
- Bini, Monica, et al.
(author)
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The 4.2 ka BP Event in the Mediterranean region : An overview
- 2019
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In: Climate of the Past. - : Copernicus GmbH. - 1814-9324 .- 1814-9332. ; 15:2, s. 555-577
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Journal article (peer-reviewed)abstract
- The Mediterranean region and the Levant have returned some of the clearest evidence of a climatically dry period occurring around 4200 years ago. However, some regional evidence is controversial and contradictory, and issues remain regarding timing, progression, and regional articulation of this event. In this paper, we review the evidence from selected proxies (sea-surface temperature, precipitation, and temperature reconstructed from pollen, δ 18 O on speleothems, and δ 18 O on lacustrine carbonate) over the Mediterranean Basin to infer possible regional climate patterns during the interval between 4.3 and 3.8 ka. The values and limitations of these proxies are discussed, and their potential for furnishing information on seasonality is also explored. Despite the chronological uncertainties, which are the main limitations for disentangling details of the climatic conditions, the data suggest that winter over the Mediterranean involved drier conditions, in addition to already dry summers. However, some exceptions to this prevail - where wetter conditions seem to have persisted - suggesting regional heterogeneity in climate patterns. Temperature data, even if sparse, also suggest a cooling anomaly, even if this is not uniform. The most common paradigm to interpret the precipitation regime in the Mediterranean - a North Atlantic Oscillation-like pattern - is not completely satisfactory to interpret the selected data.
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