Improbable lesion in a child

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Reed's Syndrome

Multiple cutaneous and uterine leiomyomatosis (MCUL), also known as Reed's syndrome, is a rare genodermatosis, with an autosomal dominant pattern of inheritance. It results from a germline heterozygous mutation of fumarate hydratase gene, that is classified as a tumor suppressor gene. Hereditary leiomyomatosis and renal cell cancer is characterized by the association of MCUL with renal cell carcinoma. We report a case of a 57-year-old woman, with multiple cutaneous leiomyomas as the presenting sign of Reed's syndrome.info:eu-repo/semantics/publishedVersio

Geographical trends in research: a preliminary analysis on authors' affiliations

In the last decade, research literature reached an enormous volume with an unprecedented current annual increase of 1.5 million new publications. As research gets ever more global and new countries and institutions, either from academia or corporate environment, start to contribute with their share, it is important to monitor this complex scenario and understand its dynamics. We present a study on a conference proceedings dataset extracted from Springer Nature Scigraph that illustrates insightful geographical trends and highlights the unbalanced growth of competitive research institutions worldwide. Results emerged from our micro and macro analysis show that the distributions among countries of institutions and papers follow a power law, and thus very few countries keep producing most of the papers accepted by high-tier conferences. In addition, we found that the annual and overall turnover rate of the top 5, 10 and 25 countries is extremely low, suggesting a very static landscape in which new entries struggle to emerge. Finally, we highlight the presence of an increasing gap between the number of institutions initiating and overseeing research endeavours (i.e. first and last authors' affiliations) and the total number of institutions participating in research. As a consequence of our analysis, the paper also discusses our experience in working with affiliations: an utterly simple matter at first glance, that is instead revealed to be a complex research and technical challenge yet far from being solved

Collagen Type IV-Related Nephropathies in Portugal: Pathogenic COL4A5 Mutations and Clinical Characterization of 22 Families

Alport syndrome (AS) is caused by pathogenic mutations in the genes encoding α3, α4 or α5 chains of collagen IV (COL4A3/COL4A4/COL4A5), resulting in hematuria, chronic renal failure (CRF), sensorineural hearing loss (SNHL) and ocular abnormalities. Mutations in the X-linked COL4A5 gene have been identified in 85% of the families (XLAS). In this study, 22 of 60 probands (37%) of unrelated Portuguese families, with clinical diagnosis of AS and no evidence of autosomal inheritance, had pathogenic COL4A5 mutations detected by Sanger sequencing and/or multiplex-ligation probe amplification, of which 12 (57%) are novel. Males had more severe and earlier renal and extrarenal complications, but microscopic hematuria was a constant finding irrespective of gender. Nonsense and splice site mutations, as well as small and large deletions, were associated with younger age of onset of SNHL in males, and with higher risk of CRF and SNHL in females. Pathogenic COL4A3 or COL4A4 mutations were subsequently identified in more than half of the families without a pathogenic mutation in COL4A5. The lower than expected prevalence of XLAS in Portuguese families warrants the use of next-generation sequencing for simultaneous COL4A3/COL4A4/COL4A5 analysis, as first-tier approach to the genetic diagnosis of collagen type IV-related nephropathies.info:eu-repo/semantics/publishedVersio

Associations between health-related quality of life, physical function and fear of falling in older fallers receiving home care

Falls and injuries in older adults have significant consequences and costs, both personal and to society. Although having a high incidence of falls, high prevalence of fear of falling and a lower quality of life, older adults receiving home care are underrepresented in research on older fallers. The objective of this study is to determine the associations between health-related quality of life (HRQOL), fear of falling and physical function in older fallers receiving home care

A matter of life and death: the Middle Neolithic population from Bom Santo Cave (Lisbon, Portugal)

The study of the Bom Santo Cave (central Portugal), a Neolithic cemetery, indicated a complex social, palaeoeconomic and population scenario. With isotope, aDNA and provenience analyses of raw materials coupled with stylistic variability of material culture items and palaeogeographical data light is shed on the territory and social organization of a population dated to 3800–3400 cal BC, i.e. the middle phase of the period. Results indicate an itinerant farming, segmentary society, where exogamic practices were the norm and patrilocality probably predominated. Its lifeway may be that of the earliest megalithic builders of the region, but further research is needed to correctly evaluate the degree of participation in such phenomenon

Effects of external nutrient sources and extreme weather events on the nutrient budget of a Southern European coastal lagoon

The seasonal and annual nitrogen (N), phosphorus (P), and carbon (C) budgets of the mesotidal Ria Formosa lagoon, southern Portugal, were estimated to reveal the main inputs and outputs, the seasonal patterns, and how they may influence the ecological functioning of the system. The effects of extreme weather events such as long-lasting strong winds causing upwelling and strong rainfall were assessed. External nutrient inputs were quantified; ocean exchange was assessed in 24-h sampling campaigns, and final calculations were made using a hydrodynamic model of the lagoon. Rain and stream inputs were the main freshwater sources to the lagoon. However, wastewater treatment plant and groundwater discharges dominated nutrient input, together accounting for 98, 96, and 88 % of total C, N, and P input, respectively. Organic matter and nutrients were continuously exported to the ocean. This pattern was reversed following extreme events, such as strong winds in early summer that caused upwelling and after a period of heavy rainfall in late autumn. A principal component analysis (PCA) revealed that ammonium and organic N and C exchange were positively associated with temperature as opposed to pH and nitrate. These variables reflected mostly the benthic lagoon metabolism, whereas particulate P exchange was correlated to Chl a, indicating that this was more related to phytoplankton dynamics. The increase of stochastic events, as expected in climate change scenarios, may have strong effects on the ecological functioning of coastal lagoons, altering the C and nutrient budgets.Portuguese Science and Technology Foundation (FCT) [POCI/MAR/58427/2004, PPCDT/MAR/58427/2004]; Portuguese Science and Technology Foundation (FCT