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A genetic diagnosis of primary cardiomyopathies can be a long-unmet need in patients with complex phenotypes. We investigated a three-generation family with cardiomyopathy and various extracardiac abnormalities that had long sought a precise diagnosis. The 41-year-old proband had hypertrophic cardiomyopathy (HCM), left ventricular noncompaction, myocardial fibrosis, arrhythmias, and a short stature. His sister showed HCM, myocardial hypertrabeculation and fibrosis, sensorineural deafness, and congenital genitourinary malformations. Their father had left ventricular hypertrophy (LVH). The proband's eldest daughter demonstrated developmental delay and seizures. We performed a clinical examination and whole-exome sequencing for all available family members. All patients with HCM/LVH shared a c.4411-2A>C variant in ALPK3, a recently known HCM-causative gene. Functional studies confirmed that this variant alters ALPK3 canonical splicing. Due to extracardiac symptoms in the female patients, we continued the search and found two additional single-gene disorders. The proband's sister had a p.Trp329Gly missense in GATA3, linked to hypoparathyroidism, sensorineural deafness, and renal dysplasia; his daughter had a p.Ser251del in WDR45, associated with beta-propeller protein-associated neurodegeneration. This unique case of three monogenic disorders in one family shows how a comprehensive approach with thorough phenotyping and extensive genetic testing of all symptomatic individuals provides precise diagnoses and appropriate follow-up, embodying the concept of personalized medicine. We also present the first example of a splicing functional study for ALPK3 and describe the genotype-phenotype correlations in cardiomyopathy.
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Linhagem , Humanos , Feminino , Masculino , Adulto , Cardiomiopatias/genética , Cardiomiopatias/diagnóstico , Sequenciamento do Exoma , Anormalidades Múltiplas/genética , Perda Auditiva Neurossensorial/genética , Fenótipo , Cardiomiopatia Hipertrófica/genética , Cardiomiopatia Hipertrófica/diagnósticoRESUMO
Oxidative stress, accompanied by mitochondrial dysfunction, is a key mechanism involved in the pathogenesis of Parkinson's disease (PD). Both carnosine and lipoic acid are potent antioxidants, the applicability of which in therapy is hindered by their limited bioavailability. This study aimed to evaluate the neuroprotective properties of a nanomicellar complex of carnosine and lipoic acid (CLA) in a rotenone-induced rat model of PD. Parkinsonism was induced via the administration of 2 mg/kg rotenone over the course of 18 days. Two doses of intraperitoneal CLA (25 mg/kg and 50 mg/kg) were administered alongside rotenone to assess its neuroprotective effect. At 25 mg/kg CLA decreased muscle rigidity and partially restored locomotor activity in animals that received rotenone. Furthermore, it caused an overall increase in brain tissue antioxidant activity, accompanied by a 19% increase in neuron density in the substantia nigra and increased dopamine levels in the striatum relative to animals that only received rotenone. Based on the acquired results, it may be concluded that CLA have neuroprotective properties and could potentially be beneficial in PD treatment when used in conjunction with the base therapy.
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Background: Left ventricular noncompaction (LVNC) cardiomyopathy is a disorder that can be complicated by heart failure, arrhythmias, thromboembolism, and sudden cardiac death. The aim of this study is to clarify the genetic landscape of LVNC in a large cohort of well-phenotyped Russian patients with LVNC, including 48 families (n=214). Methods: All index patients underwent clinical examination and genetic analysis, as well as family members who agreed to participate in the clinical study and/or in the genetic testing. The genetic testing included next generation sequencing and genetic classification according to ACMG guidelines. Results: A total of 55 alleles of 54 pathogenic and likely pathogenic variants in 24 genes were identified, with the largest number in the MYH7 and TTN genes. A significant proportion of variants -8 of 54 (14.8%) -have not been described earlier in other populations and may be specific to LVNC patients in Russia. In LVNC patients, the presence of each subsequent variant is associated with increased odds of having more severe LVNC subtypes than isolated LVNC with preserved ejection fraction. The corresponding odds ratio is 2.77 (1.37 -7.37; p <0.001) per variant after adjustment for sex, age, and family. Conclusion: Overall, the genetic analysis of LVNC patients, accompanied by cardiomyopathy-related family history analysis, resulted in a high diagnostic yield of 89.6%. These results suggest that genetic screening should be applied to the diagnosis and prognosis of LVNC patients.
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Avian coronaviruses (ACoV) have been shown to be highly prevalent in wild bird populations. More work on avian coronavirus detection and diversity estimation is needed for the breeding territories of migrating birds, where the high diversity and high prevalence of Orthomyxoviridae and Paramyxoviridae have already been shown in wild birds. In order to detect ACoV RNA, we conducted PCR diagnostics of cloacal swab samples from birds, which we monitored during avian influenza A virus surveillance activities. Samples from two distant Asian regions of Russia (Sakhalin region and Novosibirsk region) were tested. Amplified fragments of the RNA-dependent RNA-polymerase (RdRp) of positive samples were partially sequenced to determine the species of Coronaviridae represented. The study revealed a high presence of ACoV among wild birds in Russia. Moreover, there was a high presence of birds co-infected with avian coronavirus, avian influenza virus, and avian paramyxovirus. We found one case of triple co-infection in a Northern Pintail (Anas acuta). Phylogenetic analysis revealed the circulation of a Gammacoronavirus species. A Deltacoronavirus species was not detected, which supports the data regarding the low prevalence of deltacoronaviruses among surveyed bird species.
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Avulavirus , Gammacoronavirus , Vírus da Influenza A , Influenza Aviária , Animais , Patos , Gammacoronavirus/genética , Influenza Aviária/epidemiologia , Avulavirus/genética , Sibéria/epidemiologia , Filogenia , Aves , Animais Selvagens , Vírus da Influenza A/genética , RNARESUMO
Variants of the MYH7 gene have been associated with a number of primary cardiac conditions, including left ventricular noncompaction cardiomyopathy (LVNC). Most cases of MYH7-related diseases are associated with such variant types as missense substitutions and in-frame indels. Thus, truncating variants in MYH7 (MYH7tv) and associated mechanism of haploinsufficiency are usually considered not pathogenic in these disorders. However, recent large-scale studies demonstrated evidence of the significance of MYH7tv for LVNC and gave rise to an assumption that haploinsufficiency may be the causal mechanism for LVNC. In this article, we present a family with isolated LVNC and a heterozygous splice variant of the MYH7 gene, analyze possible consequences of this variant and conclude that not all variants that are predicted truncating really act through haploinsufficiency. This study can highlight the importance of a precise assessment of MYH7 splicing variants and their participation in the development of LVNC.
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Cardiomiopatias , Miocárdio Ventricular não Compactado Isolado , Humanos , Miocárdio Ventricular não Compactado Isolado/genética , Mutação , Coração , Mutação de Sentido Incorreto , Cadeias Pesadas de Miosina/genética , Miosinas Cardíacas/genéticaRESUMO
The search of a putative physiological electron acceptor for thiocyanate dehydrogenase (TcDH) newly discovered in the thiocyanate-oxidizing bacteria Thioalkalivibrio paradoxus revealed an unusually large, single-heme cytochrome c (CytC552), which was co-purified with TcDH from the periplasm. Recombinant CytC552, produced in Escherichia coli as a mature protein without a signal peptide, has spectral properties similar to the endogenous protein and serves as an in vitro electron acceptor in the TcDH-catalyzed reaction. The CytC552 structure determined by NMR spectroscopy reveals significant differences compared to those of the typical class I bacterial cytochromes c: a high solvent accessible surface area for the heme group and so-called "intrinsically disordered" nature of the histidine-rich N- and C-terminal regions. Comparison of the signal splitting in the heteronuclear NMR spectra of oxidized, reduced, and TcDH-bound CytC552 reveals the heme axial methionine fluxionality. The TcDH binding site on the CytC552 surface was mapped using NMR chemical shift perturbations. Putative TcDH-CytC552 complexes were reconstructed by the information-driven docking approach and used for the analysis of effective electron transfer pathways. The best pathway includes the electron hopping through His528 and Tyr164 of TcDH, and His83 of CytC552 to the heme group in accordance with pH-dependence of TcDH activity with CytC552.
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Heme , Tiocianatos , Grupo dos Citocromos c , Ectothiorhodospiraceae , Escherichia coli/metabolismo , Heme/metabolismo , Espectroscopia de Ressonância Magnética , Oxirredução , Oxirredutases/metabolismoRESUMO
The maintenance of intracellular nitrogen-fixing bacteria causes changes in proteins' location and in gene expression that may be detrimental to the host cell fitness. We hypothesized that the nodule's high vulnerability toward salt stress might be due to alterations in mechanisms involved in the exclusion of Na+ from the host cytoplasm. Confocal and electron microscopy immunolocalization analyses of Na+/K+ exchangers in the root nodule showed the plasma membrane (MtNHX7) and endosome/tonoplast (MtNHX6) signal in non-infected cells; however, in mature infected cells the proteins were depleted from their target membranes and expelled to vacuoles. This mistargeting suggests partial loss of the exchanger's functionality in these cells. In the mature part of the nodule 7 of the 20 genes encoding ion transporters, channels, and Na+/K+ exchangers were either not expressed or substantially downregulated. In nodules from plants subjected to salt treatments, low temperature-scanning electron microscopy and X-ray microanalysis revealed the accumulation of 5-6 times more Na+ per infected cell versus non-infected one. Hence, the infected cells' inability to withstand the salt may be the integral result of preexisting defects in the localization of proteins involved in Na+ exclusion and the reduced expression of key genes of ion homeostasis, resulting in premature senescence and termination of symbiosis.
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Medicago truncatula , Adaptação Psicológica , Regulação da Expressão Gênica de Plantas , Medicago truncatula/genética , Proteínas de Plantas/genética , Proteínas de Plantas/metabolismo , Nódulos Radiculares de Plantas/metabolismo , Estresse Salino , Sódio/metabolismo , SimbioseRESUMO
Left ventricular noncompaction (LVNC) is a highly heterogeneous primary disorder of the myocardium. Its clinical features and genetic spectrum strongly overlap with other types of primary cardiomyopathies, in particular, hypertrophic cardiomyopathy. Study and the accumulation of genotype-phenotype correlations are the way to improve the precision of our diagnostics. We present a familial case of LVNC with arrhythmic and thrombotic complications, myocardial fibrosis and heart failure, cosegregating with the splicing variant in the FHOD3 gene. This is the first description of FHOD3-dependent LVNC to our knowledge. We also revise the assumed mechanism of pathogenesis in the case of FHOD3 splicing alterations.
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Cardiomiopatias , Cardiomiopatia Hipertrófica , Cardiopatias Congênitas , Miocárdio Ventricular não Compactado Isolado , Cardiomiopatias/genética , Cardiomiopatia Hipertrófica/complicações , Forminas , Cardiopatias Congênitas/patologia , Humanos , Miocárdio Ventricular não Compactado Isolado/diagnóstico por imagem , Miocárdio Ventricular não Compactado Isolado/genética , MiocárdioRESUMO
AIM OF THE STUDY: To demonstrate the feasibility and exemplarity of an app-based parent registry. METHODS: The app as an elaborated interactive electronic case report form and the underlying data structure of the registry are presented. The initial recruitment efforts are illustrated and the temperature distribution, as well as the distribution of fever events in 2020, are analyzed. RESULTS: The FeverApp successfully collects data into a central registry. Like every study, it also provides information on the current knowledge. The ecological momentary assessment can represent the illness situation at several levels (measurement, fever episode, individual, family, practice, country). Methods for data collection needed to be developed in a flexible manner due to pandemic conditions. The initial recruitment goal of 2400 fever phases in the first two years was met, with nationwide dissemination pending. It is shown that body temperature does not rise indefinitely; fevers reach an average of 39 degrees without antipyretics, although in rare cases temperatures beyond 41 degrees are reached without harm. Furthermore, a comparison with a reference practice shows that fever episodes can be recorded more comprehensively in the app, including infections that do not come to the presentation in a pediatrician's office. Thus, the FeverApp fulfills in a model-like fashion the use of registers in persons basically healthy and maps a multi-level diagnostics. CONCLUSION: The FeverApp could basically establish itself as a supporting tool, the registry can reliably collect data with the method used and maps the current infection situation. In researching the question of how infections develop in the post-Covid period, the app could perform an important task.
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COVID-19 , Documentação , Alemanha/epidemiologia , Humanos , Pais , Sistema de Registros , SARS-CoV-2RESUMO
Flying over the open sea is energetically costly for terrestrial birds. Despite this, over-water journeys of many birds, sometimes hundreds of kilometres long, are uncovered by bio-logging technology. To understand how these birds afford their flights over the open sea, we investigated the role of atmospheric conditions, specifically wind and uplift, in subsidizing over-water flight at a global scale. We first established that ΔT, the temperature difference between sea surface and air, is a meaningful proxy for uplift over water. Using this proxy, we showed that the spatio-temporal patterns of sea-crossing in terrestrial migratory birds are associated with favourable uplift conditions. We then analysed route selection over the open sea for five facultative soaring species, representative of all major migratory flyways. The birds maximized wind support when selecting their sea-crossing routes and selected greater uplift when suitable wind support was available. They also preferred routes with low long-term uncertainty in wind conditions. Our findings suggest that, in addition to wind, uplift may play a key role in the energy seascape for bird migration that in turn determines strategies and associated costs for birds crossing ecological barriers such as the open sea.
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Voo Animal , Vento , Migração Animal , Animais , Aves , ÁguaRESUMO
Left ventricular non-compaction cardiomyopathy (LVNC) is a rare heart disease, with or without left ventricular dysfunction, which is characterized by a two-layer structure of the myocardium and an increased number of trabeculae. The study of familial forms of LVNC is helpful for risk prediction and genetic counseling of relatives. Here, we present a family consisting of three members with LVNC. Using a next-generation sequencing approach a combination of two (likely) pathogenic nonsense mutations DSG2-p.S363X and TBX20-p.D278X was identified in all three patients. TBX20 encodes the cardiac T-box transcription factor 20. DSG2 encodes desmoglein-2, which is part of the cardiac desmosomes and belongs to the cadherin family. Since the identified nonsense variant (DSG2-p.S363X) is localized in the extracellular domain of DSG2, we performed in vitro cell transfection experiments. These experiments revealed the absence of truncated DSG2 at the plasma membrane, supporting the pathogenic relevance of DSG2-p.S363X. In conclusion, we suggest that in the future, these findings might be helpful for genetic screening and counseling of patients with LVNC.
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Cardiomiopatias/diagnóstico , Cardiomiopatias/etiologia , Desmogleína 2/genética , Mutação , Proteínas com Domínio T/genética , Disfunção Ventricular Esquerda/diagnóstico , Disfunção Ventricular Esquerda/etiologia , Adulto , Células Cultivadas , Análise Mutacional de DNA , Feminino , Estudos de Associação Genética/métodos , Predisposição Genética para Doença , Testes de Função Cardíaca , Humanos , Imageamento por Ressonância Magnética/métodos , Linhagem , Avaliação de SintomasRESUMO
The population of the Yellow-breasted Bunting Emberiza aureola, a formerly widely distributed and abundant songbird of northern Eurasia, suffered a catastrophic decline and a strong range contraction between 1980 and 2013. There is evidence that the decline was driven by illegal trapping during migration, but potential contributions of other factors to the decline, such as land-use change, have not yet been evaluated. Before the effects of land-use change can be evaluated, a basic understanding of the ecological requirements of the species is needed. We therefore compared habitat use in ten remaining breeding regions across the range, from European Russia to Japan and the Russian Far East. We also assessed large-scale variation in habitat parameters across the breeding range. We found large variation in habitat use, within and between populations. Differences were related to the cover and height of trees and shrubs at Yellow-breasted Bunting territories. In many regions, Yellow-breasted Buntings occupied early successional stages, including anthropogenic habitats characterized by mowing, grazing, or fire regimes. We found that the probability of presence can be best predicted with the cover of shrubs, herbs, and grasses. Highest probabilities were found at shrub cover values of 40%-70%. Differences in habitat use along a longitudinal gradient were small, but we found strong differences across latitudes, possibly related to habitat availability. We conclude that the remaining Yellow-breasted Bunting populations are not limited to specific habitat types. Our results provide important baseline information to model the range-wide distribution of this critically endangered species and to guide targeted conservation measures.
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Monitoring pollution in Arctic regions is a challenging and important task, regardless of the way these lands are used. The summer 2019 expedition to the Yamal Peninsula revealed historic petroleum pollution of the tundra area adjacent to "Yamalsky" natural reserve. Soil, surface water and bottom sediments from a downhill lake, and herbaceous plant Eriophorum scheuchzeri samples were collected to address the origin and the level of the aged pollution, and to investigate, if E. scheuchzeri species could be a potential phytoremediation agent. Compositional GC-MS analysis of the soil organic matter showed that diesel fuel spillage affected the study area and the territories nearby. Weathered diesel compounds penetrated the soil and reached the permafrost layer at 85 cm depth. Petroleum hydrocarbon level peaked at 11% (wt) in the topsoil at the polluted site and 3% (wt) in the bottom sediments of the downhill lake, demonstrating chronic ecosystem exposure. The following ICP-MS analysis showed presence of trace elements (V, Cr, Mn, Fe, Co, Ni, Cu, Zn, As, Mo, Ag, Cd, Ba, Pb, Bi, U) in the soil, water, and E. scheuchzeri samples. Observed concentrations of V, Cr, Cd, Pb, Ni, and Zn in the soil samples exceeded the background values by 3.6, 2.3, 9.7, 2.9, and 3.0 times, respectively. V (0.4 mg/L) and Cr (0.12 mg/L) levels in the lake water exceeded the established national limits by 40 and 2.4 times, respectively, which demonstrated the possibility of pollution migration with groundwater or surface water. The plant E. scheuchzeri tolerated diesel pollution and stimulated natural attenuation, bioaccumulating Mo, Cd, Ba, and Bi in its tissue from the soil. E. scheuchzeri is proposed for phytoremediation of Arctic soils polluted with petroleum and metals.
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Metais Pesados , Pergelissolo , Poluentes do Solo , China , Ecossistema , Monitoramento Ambiental , Metais Pesados/análise , Medição de Risco , Solo , Poluentes do Solo/análiseRESUMO
Based on solvothermal synthesis, self-assembly of the heptadentate 2,6-diacetylpyridine bis(nicotinoylhydrazone) Schiff base ligand (H2L) and Zn(II) and/or Cd(II) salts has led to the formation of three homometallic [CdL]n (1), {[CdL]â0.5dmfâH2O}n (2) and {[ZnL]â0.5dmfâ1.5H2O}n (3), as well as two heterometallic {[Zn0.75Cd1.25L2]âdmfâ0.5H2O}n (4) and {[MnZnL2]âdmfâ3H2O}n coordination polymers. Compound 1 represents a 1D chain, whereas 2-5 are isostructural and isomorphous two-dimensional structures. The entire series was characterized by IR spectroscopy, thermogravimetric analysis, single-crystal X-ray diffraction and emission measurements. 2D coordination polymers accommodate water and dmf molecules in their cage-shaped interlayer spaces, which are released when the samples are heated. Thus, three solvated crystals were degassed at two temperatures and their photoluminescent and adsorption-desorption properties were recorded in order to validate this assumption. Solvent-free samples reveal an increase in volume pore, adsorption specific surface area and photoluminescence with regard to synthesized crystals.
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Subcutaneous administration of rotenone to rats is currently a widely used method of reproducing Parkinson's disease (PD) symptoms, due to its convenience and effectiveness. Despite this, its influence on the temporal dynamics of parkinsonism development has yet to be investigated. The present study characterizes behavioral and neurochemical disruptancies underlying the dynamics of parkinsonism development in rats, induced by chronic subcutaneous administration of 2 mg/kg rotenone over the course of 18 days. In this article, the presence of two stages of pathology development in the model in question - the premotor and motor disability stages - are illustrated through a complex assessment of animal behavior, the development of an original neurological symptoms scale, and the establishment of the dynamics of histological and neurochemical changes in the brain. The premotor stage was observed up to 3 days of rotenone administration, and was characterized by a decrease in the motivational component of behavior, shown both in the food-getting task and in the "sucrose preference" test. A 30 % decrease in the number of cells in the substantia nigra pars compacta by the 3rd day of rotenone administration was also shown during the premotor stage. No changes in the metabolism of dopamine and other monoamine mediators were observed at this time. At the same time, acute administration of rotenone caused an increase in the GSH / GSSG ratio by 69 %. The motor stage developed after a decrease in the number of cells in the SNpc by more than 30 %, and was characterized by changes in the dopaminergic system, leading up to a 71 % reduction in dopamine levels in the striatum. It was shown that starting from 4 to 6 days of rotenone injection, experimental group animals begin to develop motor symptoms of Parkinson's disease, including bradykinesia, rigidity and postural instability. The development of motor impairment in all rats of this group was accompanied by significantly reduced activity of the antioxidant system in brain frontal lobe tissue homogenates, as compared to intact rats. Thus, in the used model of rotenone-induced parkinsonism, the dynamics of neuropathology development are described and the premotor stage of the disease is highlighted, which allows future using of this model in developing new approaches for treatment of parkinsonism at an early stage.
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Comportamento Animal/fisiologia , Corpo Estriado/patologia , Neurônios Dopaminérgicos/patologia , Doença de Parkinson Secundária/patologia , Substância Negra/patologia , Animais , Modelos Animais de Doenças , Ingestão de Alimentos/fisiologia , Força da Mão/fisiologia , Masculino , Doença de Parkinson Secundária/induzido quimicamente , Ratos , Ratos Wistar , RotenonaRESUMO
Flavocytochrome c sulfide dehydrogenase (FCC) is one of the central enzymes of the respiratory chain in sulfur-oxidizing bacteria. FCC catalyzes oxidation of sulfide and polysulfide ions to elemental sulfur accompanied by electron transfer to cytochrome c. The catalytically active form of the enzyme is a non-covalently linked heterodimer composed of flavin- and heme-binding subunits. The Thioalkalivibrio paradoxus ARh1 genome contains five copies of genes encoding homologous FCCs with an amino acid sequence identity from 36 to 54%. When growing on thiocyanate or thiosulfate as the main energy source, the bacterium synthesizes products of different copies of FCC genes. In this work, we isolated and characterized FCC synthesized during the growth of Tv. paradoxus on thiocyanate. FCC was shown to oxidize exclusively sulfide but not other reduced sulfur compounds, such as thiosulfate, sulfite, tetrathionate, and sulfur, and it also does not catalyze the reverse reaction of sulfur reduction to sulfide. Kinetic parameters of the sulfide oxidation reaction are characterized.
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Grupo dos Citocromos c/metabolismo , Ectothiorhodospiraceae/enzimologia , Oxirredutases/metabolismo , Sulfetos/metabolismo , Tiocianatos/metabolismo , Ectothiorhodospiraceae/metabolismo , Transporte de Elétrons , Cinética , Especificidade por SubstratoRESUMO
About 50% of patients with arrhythmogenic cardiomyopathy (ACM) carry a pathogenic or likely pathogenic mutation in the desmosomal genes. However, there is a significant number of patients without positive familial anamnesis. Therefore, the molecular reasons for ACM in these patients are frequently unknown and a genetic contribution might be underestimated. Here, we used a next-generation sequencing (NGS) approach and in addition single nucleotide polymor-phism (SNP) arrays for the genetic analysis of two independent index patients without familial medical history. Of note, this genetic strategy revealed a homozygous splice site mutation (DSG2-c.378+1G>T) in the first patient and a nonsense mutation (DSG2-p.L772X) in combination with a large deletion in DSG2 in the second one. In conclusion, a recessive inheritance pattern is likely for both cases, which might contribute to the hidden medical history in both families. This is the first report about these novel loss-of-function mutations in DSG2 that have not been previously identi-fied. Therefore, we suggest performing deep genetic analyses using NGS in combination with SNP arrays also for ACM index patients without obvious familial medical history. In the future, this finding might has relevance for the genetic counseling of similar cases.
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Displasia Arritmogênica Ventricular Direita/genética , Desmogleína 2/genética , Hemizigoto , Homozigoto , Mutação com Perda de Função , Polimorfismo de Nucleotídeo Único , Displasia Arritmogênica Ventricular Direita/diagnóstico por imagem , Feminino , Humanos , MasculinoRESUMO
The FeverApp Registry is a model registry focusing on pediatric fever using a mobile app to collect data and present recommendations. The recorded interactions can clarify the relationship between user documentation and user information. This initial evaluation regarding features of participants and usage intensity of educational video, information library, and documentation of fever events covers the runtime of FeverApp for the first 14 months. Of the 1592 users, the educational opening video was viewed by 41.5%, the Info Library was viewed by 37.5%, and fever events were documented by 55.5%. In the current sample, the role of a mother (p < 0.0090), having a higher level of education (p = 0.0013), or being registered at an earlier date appear to be cues to take note of the training video, Info Library, and to document. The FeverApp was used slightly less by people with a lower level of education or who had a migration background, but at the current stage of recruitment no conclusion can be made. The user analyses presented here are plausible and should be verified with further dissemination of the registry. Ecological momentary assessment is used more than the information option, in line with the task of a registry. Data collection via app seems feasible.
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Aplicativos Móveis , Criança , Avaliação Momentânea Ecológica , Febre , Humanos , Sistema de RegistrosRESUMO
Seasonal geophysical cycles strongly influence the activity of life on Earth because they affect environmental conditions like temperature, precipitation and day length. An increase in daylight availability during summer is especially enhanced when animals migrate along a latitudinal gradient. Yet, the question of how day length (i.e. daylight availability) influences the activity patterns of long-distance, latitudinal migrants is still unclear. Here, we ask whether migration provides benefits to long-distance migrants by enabling them to increase their diurnal movement activities due to an increase in daylight availability. To answer this question, we tested whether four vastly different species of long-distance migratory birds-two arctic migrants and two mid-latitude migrants-can capitalise on day length changes by adjusting their daily activity. We quantified the relationship between daily activity (measured using accelerometer data) and day length, and estimated each species' daily activity patterns. In addition, we evaluated the role of day length as an ultimate driver of bird migration. All four species exhibited longer activity periods during days with more daylight hours, showing a strong positive relationship between total daily activity and day length. The slope of this relationship varied between the different species, with activity increasing 1.5-fold on average when migrating from wintering to breeding grounds. Underlying mechanisms of these relationships reveal two distinct patterns of daily activity. Flying foragers showed increasing activity patterns, that is, their daytime activities rose uniformly up to solar noon and decreased until dusk, thereby exhibiting a season-specific activity slope. In contrast, ground foragers showed a constant activity pattern, whereby they immediately increased their activity to a certain level and maintained this level throughout the day. Our study reveals that long days allow birds to prolong their activity and increase their total daily activity. These findings highlight that daylight availability could be an additional ultimate cause of bird migration and act as a selective agent for the evolution of migration.
Los ciclos geofísicos estacionales influyen fuertemente la actividad de la vida en la Tierra ya que afectan diversas condiciones ambientales como la temperatura, la precipitación y la duración del día. El aumento de la disponibilidad de luz solar durante el verano favorece especialmente a las especies que migran a lo largo de un gradiente latitudinal. Sin embargo, el efecto de la duración del día (es decir, la disponibilidad de luz solar) en los patrones de actividad de las especies que migran latitudinalmente largas distancias, aún no es claro. Aquí nos preguntamos si un aumento de la disponibilidad de luz solar representa un beneficio para los animales que migran largas distancias, al prolongar el periodo de actividad diurna. Para responder a esta pregunta, investigamos si cuatro especies diferentes de aves migratorias de larga distancia, dos migrantes árticos y dos migrantes de latitudes medias, pueden ajustar su actividad diaria y aprovechar los cambios en la duración del día. Cuantificamos la relación entre la actividad diaria (medida con datos de acelerómetro) y la duración del día, y estimamos los patrones de actividad de cada especie. Además, evaluamos el papel de la duración del día como mecanismo último subyacente a la migración de las aves. Las cuatro especies mostraron períodos de actividad más largos durante los días con más horas de luz, mostrando una fuerte relación positiva entre la actividad diaria total y la duración del día. Esta relación varió entre las especies evaluadas. La actividad aumentó en promedio 1.5 veces durante la migración desde las áreas de invernada a las áreas de reproducción. Los mecanismos subyacentes a estas relaciones revelan dos patrones de actividad diaria. Las especies que forrajean en vuelo mostraron un aumento en su patrón de actividad. En este caso, la actividad diurna aumentó uniformemente hasta el mediodía y disminuyó hasta el atardecer, mostrando una pendiente de actividad específica para la estación. De otro lado, las especies que forrajean en tierra mostraron un patrón de actividad constante. Según este patrón, la actividad diurna aumenta hasta un determinado nivel, a partir del cual se mantiene durante el resto del día. Nuestro estudio revela que el aumento en la longitud del día le permite a las aves prolongar su actividad e incrementar su actividad diaria total. Estos resultados señalan que la disponibilidad de luz diurna podría ser otro mecanismo último subyacente a la migración de las aves y puede actuar como un factor de selección en la evolución de la migración.
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Migração Animal , Aves , Animais , Estações do Ano , TemperaturaRESUMO
Legume and rhizobium species can establish a nitrogen-fixing nodule symbiosis. Previous studies have shown that several transcription factors that play a role in (lateral) root development are also involved in nodule development. Chromatin remodeling factors, like transcription factors, are key players in regulating gene expression. However, studies have not investigated whether chromatin remodeling genes that are essential for root development are also involved in nodule development. Here, we studied the role of Medicago (Medicago truncatula) histone deacetylases (MtHDTs) in nodule development. Arabidopsis (Arabidopsis thaliana) orthologs of HDTs have been shown to play a role in root development. MtHDT expression is induced in nodule primordia and is maintained in the nodule meristem and infection zone. Conditional, nodule-specific knockdown of MtHDT expression by RNAi blocks nodule primordium development. A few nodules may still form, but their nodule meristems are smaller, and rhizobial colonization of the cells derived from the meristem is markedly reduced. Although the HDTs are expressed during nodule and root development, transcriptome analyses indicate that HDTs control the development of each organ in a different manner. During nodule development, the MtHDTs positively regulate 3-hydroxy-3-methylglutaryl coenzyme a reductase 1 (MtHMGR1). Decreased expression of MtHMGR1 is sufficient to explain the inhibition of primordium formation.