Providing a complete data set with species and trait information for a given area is essential for assessing plant conservation, management, and ecological restoration, for both local and global ...applications. Also, these data sets provide additional information for surveys or data collections, establishing the starting point for more detailed studies on plant evolution, vegetation dynamics, and vegetation responses to disturbance and management. This data base covers Sierra Nevada mountains (southeastern Spain), a recognized plant biodiversity hotspot within the Mediterranean context. According to previous available data (before this augmented compilation), these mountains host 7% of the 24,000 Mediterranean vascular plants, despite covering just 0.01% of its area. Another characteristic of the Sierra Nevada is the great singularity of its flora, with 95 taxa being endemic to the high-mountain area of Sierra Nevada and surroundings. From these endemic taxa, 70% are endangered by different threats, global warming being a leading cause. We seek to provide a complete and updated database of the flora of the Sierra Nevada mountains (southeast Spain). The goal of the present data set is to compile the names of all the vascular plant taxa inhabiting Sierra Nevada, together with relevant features including taxonomical, morphological–ecological traits, distribution, habitats, abundance, and conservation status. The data were compiled according to all the available information sources on taxonomy, ecology, and plant-species distribution. The resulting data set includes 2,348 taxa belonging to 1,937 species, 377 subspecies, and 34 hybrids, from a total of 756 genera and 146 families represented in the collection. For each taxa, together with taxonomical information (Phylum, Class, Family, Genus, Taxa), we compiled plant traits (life form, spinescence, flower symmetry, flower sexuality, plant gender, androecium:ginoecium ratio, flower color, perianth type, pollinator type, flowering, seed dispersal, and vegetative reproduction), and their environmental association (origin, endemic character, general distribution, substrate, elevation, habitat, local abundance, hygrophilous behavior, and conservation status). All these traits were compiled from all the available information sources, resulting in a complete and updated database for Sierra Nevada vascular flora. This data set provides valuable information on plant traits in an outstanding micro hotspot within the Mediterranean hotspot. This data set can be freely used for noncommercial purposes. This data set is licensed under a Creative Commons Attribution 4.0 International License (CC BY 4.0). When you use this data set, we request that you cite the data and this data paper.
Abstract Sierra Nevada (southern Iberian Peninsula) harbours a great biodiversity and the studies on some aquatic insect groups have been and continue to be numerous there. This database brings ...together information on Plecoptera, Trichoptera and Coleoptera inhabiting running waters of this mountain system above 800 m of altitude. It includes data on the number, life stage and sex of individuals as well as the available information on abiotic characteristics of their habitats. The dataset is composed of 1,718 sampling events carried out between 1901 and 2022 in approximately 60 different water bodies, 15,347 occurrences pertaining to more than 203,000 individuals, and 10,173 records of associated measurements (23 physico-chemical parameters). The dataset is the result of a comprehensive review of scientific literature and of integrating data from recent research projects and the Sierra Nevada Global-Change Observatory’s long-term monitoring data. This information is valuable for those studying past distributions and abundances of the species in the dataset, for building predictive models or just studying temporal trends in the current context of climate change.
This dataset provides information about infestation caused by the pine processionary moth (
(Denis & Schiffermüller, 1775)) in pure or mixed pine woodlands and plantations in Andalusia. It represents ...a long-term series (1993-2015) containing 81,908 records that describe the occurrence and incidence of this species. Data were collected within a monitoring programme known as COPLAS, developed by the Regional Ministry of Environment and Territorial Planning of the Andalusian Regional Government within the frame of the Plan de Lucha Integrada contra la Procesionaria del Pino (Plan for Integrated Control Against the Pine Processionary Moth). In particular, this dataset includes 4,386 monitoring stands which, together with the campaign year, define the dataset events in Darwin Core Archive. Events are related with occurrence data which show if the species is present or absent. In turn, the event data have a measurement associated: degree of infestation.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by pathogenic variants in
Recently,
testing has been included as a clinical criterion for NF1 diagnosis. Additionally, ...preconception genetic counselling in patients with NF1 focuses on a 50% risk of transmitting the familial variant as the risk of having a sporadic NF1 is considered the same as the general population.
829 individuals, 583 NF1 sporadic cases and 246 patients with NF1 with documented family history, underwent genetic testing for NF1. Genotyping and segregation analysis of
familial variants was determined by microsatellite analysis and
sequencing.
The mutational analysis of NF1 in 154 families with two or more affected cases studied showed the co-occurrence of two different
germline pathogenic variants in four families. The estimated mutation rate in those families was 3.89×10
, 20 times higher than the
mutation rate (~2×10
) (p=0.0008). Furthermore, the co-occurrence of two different
germline pathogenic variants in these families was 1:39, 60 times the frequency of sporadic NF1 (1:2500) (p=0.003). In all cases, the de novo NF1 pathogenic variant was present in a descendant of an affected male. In two cases, variants were detected in the inherited paternal wild-type allele.
Our results, together with previous cases reported, suggest that the offspring of male patients with NF1 could have an increased risk of experiencing de novo NF1 pathogenic variants. This observation, if confirmed in additional cohorts, could have relevant implications for NF1 genetic counselling, family planning and
genetic testing.
To describe the clinical characteristics, the imaging findings, and the genetic results of a patient with cone-rod dystrophy (CORD) related to mutations in
.
A case report of atypical
-related CORD. ...Ophthalmological examination was performed, including best-corrected visual acuity (BCVA), fundus photography, fundus autofluorescence (FAF) imaging, optical coherence tomography (OCT), a visual field test, and electroretinography testing. The genetic test was performed by next-generation sequencing (NGS)-based panel test containing 336 genes.
A 57-year-old female who had reported a visual loss for 5 years. BCVA was 20/100 in both eyes. The fundus examination revealed a hypopigmented halo around the fovea, showing a paracentral hyperautofluorescent ring on FAF. OCT demonstrated the presence of atrophy in the outer retinal layers. The genetic test identified the probably pathogenic variants c.4028delA and c.5254C>T in compound heterozygosis in
.
This is the first report to present the clinical characteristics, imaging findings, and genetic test results of a patient with
-related CORD. Our case contributes to expanding the clinical involvement of
pathogenic variants. This study indicates that
-related CORD may have a mild phenotype with late-onset dystrophy, making these patients interesting candidates for innovative treatments such as genetic therapeutic approaches.
Aims
Dilated cardiomyopathy (DCM) associated with dystrophin gene (DMD) mutations in individuals with mild or absent skeletal myopathy is often indistinguishable from other DCM forms. We sought to ...describe the phenotype and prognosis of DMD associated DCM in DMD mutation carriers without severe skeletal myopathy.
Methods and results
At 26 European centres, we retrospectively collected clinical characteristics and outcomes of 223 DMD mutation carriers (83% male, 33 ± 15 years). A total of 112 individuals (52%) had DCM at first evaluation n = 85; left ventricular ejection fraction (LVEF) 34 ± 11.2% or developed DCM (n = 27; LVEF 41.3 ± 7.5%) after a median follow‐up of 96 months (interquartile range 5–311 months). DCM penetrance was 45% in carriers older than 40 years. DCM appeared earlier in males and was independent of the type of mutation, presence of skeletal myopathy, or elevated serum creatine kinase levels. Major adverse cardiac events (MACE) occurred in 22% individuals with DCM, 18% developed end‐stage heart failure and 9% sudden cardiac death or equivalent. Skeletal myopathy was not associated with survival free of MACE in patients with DCM. Decreased LVEF and increased left ventricular end‐diastolic diameter at baseline were associated with MACE. Individuals without DCM had favourable prognosis without MACE or death during follow‐up.
Conclusions
DMD‐associated DCM without severe skeletal myopathy is characterized by incomplete penetrance but high risk of MACE, including progression to end‐stage heart failure and ventricular arrhythmias. DCM onset is the major determinant of prognosis with similar survival regardless of the presence of skeletal myopathy.
Main characteristics of DMD‐associated dilated cardiomyopathy (DCM). DMD‐associated DCM shows incomplete penetrance and a later diagnosis among DCM patients without concomitant skeletal myopathy. DMD mutations result in progressive cardiomyocyte death and fibrosis, leading to DCM. DCM onset is the major determinant of prognosis. Prognosis is similar among DMD‐associated DCM patients with or without skeletal muscle involvement. DMD, dystrophin gene; HF, heart failure; HT, heart transplantation; ICD, implantable cardioverter‐defibrillator; LVAD, left ventricular assist device; SCD, sudden cardiac death.
Leber hereditary optic neuropathy is a mitochondrial disease mainly due to pathologic mutations in mitochondrial genes related to the respiratory complex I of the oxidative phosphorylation system. ...Genetic, physiological, and environmental factors modulate the penetrance of these mutations. We report two patients suffering from this disease and harboring a m.15950G > A mutation in the mitochondrial DNA‐encoded gene for the threonine transfer RNA. We also provide evidences supporting the pathogenicity of this mutation.
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