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1.
Langmuir ; 36(22): 6095-6105, 2020 06 09.
Artigo em Inglês | MEDLINE | ID: mdl-32396363

RESUMO

We present a platform of charge-invertible core-shell hybrid particles for the selective and reversible adsorption of small charged molecules as model systems. The herein employed carrier systems consist of an iron oxide core coated with different pH-responsive polyampholytes which exhibit varying surface charge depending on the surrounding pH value. The resulting materials were used for electrostatically mediated catch-and-release experiments of either cationic or anionic dyes with the perspective to allow the pH-dependent magnetically guided transport of suitable cargo. The use of three different polyampholyte coatings (poly(2-(imidazol-1-yl)acrylic acid) (PImAA), poly(dehydroalanine) (PDha), and poly(N,N-diallylglutamate) (PDAGA)) enables a deeper understanding about how the surface net charge in combination with the charge and charge density of any cargo influences such processes. The size, surface charge, and aggregation behavior of the herein described particles were investigated via dynamic light scattering (DLS), transmission electron microscopy (TEM), and pH-dependent ζ-potential measurements, whereas adsorption and release studies were investigated via UV-vis.

2.
Public Health ; 185: 218-220, 2020 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-32659514

RESUMO

OBJECTIVES: The aim of the study was to investigate differences in the frequency and types of engagement in sports before, during and after the coronavirus disease 2019 (COVID-19) stay-at-home order in Tyrol, Austria. STUDY DESIGN: A representative population survey was conducted. METHODS: A sample of Tyroleans (N = 511) was questioned by a market research institute via an online questionnaire or telephone survey. RESULTS: During the stay-at-home order, participants engaged less in sports than before and after the restrictions. However, within-group analyses revealed increasing sport participation in less active groups when comparing the pre- and post-COVID-19 period. CONCLUSIONS: Despite the restrictions during the stay-at-home order, respondents did engage in sports and promoted their health. Nevertheless, it is still necessary to investigate the long-term effects of the COVID-19 crisis on sports and exercise behaviour as well as the extent to which sports policy measures may be able increase sports participation.


Assuntos
Infecções por Coronavirus/prevenção & controle , Exercício Físico/psicologia , Pandemias/prevenção & controle , Pneumonia Viral/prevenção & controle , Saúde Pública/legislação & jurisprudência , Esportes/estatística & dados numéricos , Adulto , Áustria/epidemiologia , COVID-19 , Infecções por Coronavirus/epidemiologia , Feminino , Humanos , Masculino , Pessoa de Meia-Idade , Pneumonia Viral/epidemiologia , Inquéritos e Questionários
3.
Front Zool ; 15: 20, 2018.
Artigo em Inglês | MEDLINE | ID: mdl-29743927

RESUMO

BACKGROUND: The European spurge hawkmoth, Hyles euphorbiae (Lepidoptera, Sphingidae), has been intensively studied as a model organism for insect chemical ecology, cold hardiness and evolution of species delineation. To understand species isolation mechanisms at a molecular level, this study aims at determining genetic factors underlying two adaptive ecological trait candidates, phorbol ester (TPA) detoxification and seasonal cold acclimation. METHOD: A draft transcriptome of H. euphorbiae was generated using Illumina sequencing, providing the first genomic resource for the hawkmoth subfamily Macroglossinae. RNA expression levels in tissues of experimental TPA feeding larvae and cooled pupae was compared to levels in control larvae and pupae using 26 bp RNA sequence tag libraries (DeepSuperSAGE). Differential gene expression was assessed by homology searches of the tags in the transcriptome. RESULTS: In total, 389 and 605 differentially expressed transcripts for detoxification and cold hardiness, respectively, could be identified and annotated with proteins. The majority (22 of 28) of differentially expressed detox transcripts of the four 'drug metabolism' enzyme groups (cytochrome P450 (CYP), carboxylesterases (CES), glutathione S-transferases (GST) and lipases) are up-regulated. Triacylglycerol lipase was significantly over proportionally annotated among up-regulated detox transcripts. We record several up-regulated lipases, GSTe2, two CESs, CYP9A21, CYP6BD6 and CYP9A17 as candidate genes for further H. euphorbiae TPA detoxification analyses. Differential gene expression of the cold acclimation treatment is marked by metabolic depression with enriched Gene Ontology terms among down-regulated transcripts almost exclusively comprising metabolism, aerobic respiration and dissimilative functions. Down-regulated transcripts include energy expensive respiratory proteins like NADH dehydrogenase, cytochrome oxidase and ATP synthase. Gene expression patterns show shifts in carbohydrate metabolism towards cryoprotectant production. The Glycolysis enzymes, G1Pase, A1e, Gpi and an Akr isoform are up-regulated. Glycerol, an osmolyte which lowers the body liquid supercooling point, appears to be the predominant polyol cryoprotectant in H. euphorbiae diapause pupae. Several protein candidates involved in glucose, glycerol, myo-inositol and potentially sorbitol and trehalose synthesis were identified. CONCLUSIONS: A majority of differently expressed transcripts unique for either detoxification or cold hardiness indicates highly specialized functional adaptation which may have evolved from general cell metabolism and stress response.The transcriptome and extracted candidate biomarkers provide a basis for further gene expression studies of physiological processes and adaptive traits in H. euphorbiae.

4.
Nanotechnology ; 28(35): 355701, 2017 Sep 01.
Artigo em Inglês | MEDLINE | ID: mdl-28650847

RESUMO

We confirmed the occurrence of phase transformations in an atomic force microscopy silicon tip during loading and unloading experiments performed on a polycrystalline Ti sample. The influence of the phase transformations on the effective mechanical and electrical properties of the tip was observed with the help of load-unload curves measured simultaneously for the tip-sample contact stiffness k * and the effective electrical resistance of the system R eff. We used the atomic force acoustic microscopy (AFAM) method to determine the values of k *. To measure the changes in R eff, we combined a high voltage source/measure unit with the existing AFAM system. The data obtained showed that the phase transformation from Si-I to Si-II is preceded by other structural changes such as formation of distorted diamond structures and formation of Si-III. This conclusion was reached after observing a small hysteretic behavior in the load-unload stiffness curve accompanied by only very small changes in the resistance of the tip-sample system occurring on the unloading. The coinciding of a sudden increase in the values of the contact stiffness with a decrease in the resistance of the system indicated that the formation of metallic Si-II occurred in the subsequent measurements. The interpretation of our results found confirmation in the results of molecular dynamics and atomistic simulations performed for silicon under nanoindentation experiments.

5.
Clin Genet ; 90(6): 545-549, 2016 12.
Artigo em Inglês | MEDLINE | ID: mdl-27000652

RESUMO

Pontocerebellar hypoplasias (PCH) are characterized by lack of development and/or early neurodegeneration of cerebellum and brainstem. We report five patients referred for PCH, showing atypical clinical and magnetic resonance imaging (MRI) features suggestive of defects in the Reelin pathway. We screened for mutations in RELN or VLDLR and compared the phenotype of these patients with that of previously reported patients. All patients had profound cerebellar hypoplasia on MRI with peculiar cerebellar morphology, associated with flattened pons and neocortical abnormalities. Patient 1 had profound motor and intellectual disability with moderate lissencephaly suggestive of RELN mutations and was shown to harbor a splicing homozygous RELN mutation. The four other patients had a milder phenotype consistent with CARMQ1 (cerebellar ataxia and mental retardation with or without quadrupedal locomotion). These patients showed mild simplification or thickening of cortical gyration and had VLDLR mutations. Reelin signaling regulates neuronal migration in the developing mammalian brain. VLDLR is a key component of the Reelin pathway. Our patients had a very small and dysplatic cerebellar vermis that should suggest the involvement of these genes. Moreover, differences in clinical severity, involvement of the cerebellar hemispheres, together with the severity of the neocortical defect, enables RELN-mutated patients to be distinguished from VLDLR-mutated patients.


Assuntos
Moléculas de Adesão Celular Neuronais/genética , Cerebelo/anormalidades , Proteínas da Matriz Extracelular/genética , Deficiência Intelectual/genética , Proteínas do Tecido Nervoso/genética , Malformações do Sistema Nervoso/genética , Receptores de LDL/genética , Serina Endopeptidases/genética , Adolescente , Adulto , Cerebelo/diagnóstico por imagem , Cerebelo/fisiopatologia , Criança , Pré-Escolar , Deficiências do Desenvolvimento/diagnóstico por imagem , Deficiências do Desenvolvimento/genética , Deficiências do Desenvolvimento/fisiopatologia , Feminino , Homozigoto , Humanos , Deficiência Intelectual/diagnóstico por imagem , Deficiência Intelectual/fisiopatologia , Imageamento por Ressonância Magnética , Masculino , Mutação , Malformações do Sistema Nervoso/diagnóstico por imagem , Malformações do Sistema Nervoso/fisiopatologia , Fenótipo , Proteína Reelina
6.
Clin Genet ; 87(5): 430-9, 2015 May.
Artigo em Inglês | MEDLINE | ID: mdl-24890733

RESUMO

WFS1 mutations are responsible for Wolfram syndrome (WS) characterized by juvenile-onset diabetes mellitus and optic atrophy, and for low-frequency sensorineural hearing loss (LFSNHL). Our aim was to analyze the French cohort of 96 patients with WFS1-related disorders in order (i) to update clinical and molecular data with 37 novel affected individuals, (ii) to describe uncommon phenotypes and, (iii) to precise the frequency of large-scale rearrangements in WFS1. We performed quantitative polymerase chain reaction (PCR) in 13 patients, carrying only one heterozygous variant, to identify large-scale rearrangements in WFS1. Among the 37 novel patients, 15 carried 15 novel deleterious putative mutations, including one large deletion of 17,444 base pairs. The analysis of the cohort revealed unexpected phenotypes including (i) late-onset symptoms in 13.8% of patients with a probable autosomal recessive transmission; (ii) two siblings with recessive optic atrophy without diabetes mellitus and, (iii) six patients from four families with dominantly-inherited deafness and optic atrophy. We highlight the expanding spectrum of WFS1-related disorders and we show that, even if large deletions are rare events, they have to be searched in patients with classical WS carrying only one WFS1 mutation after sequencing.


Assuntos
Estudos de Associação Genética , Proteínas de Membrana/genética , Mutação , Fenótipo , Síndrome de Wolfram/diagnóstico , Síndrome de Wolfram/genética , Adolescente , Adulto , Substituição de Aminoácidos , Criança , Estudos de Coortes , Família , Feminino , França , Genes Dominantes , Genes Recessivos , Genótipo , Humanos , Masculino , Pessoa de Meia-Idade , Adulto Jovem
7.
Klin Padiatr ; 225(3): 110-4, 2013 May.
Artigo em Inglês | MEDLINE | ID: mdl-23709132

RESUMO

OBJECTIVES: Blood drawings are very painful and stressful for children. In a prospective control group study we investigated if using a picture book could reduce the children's pain expectation. In addition, the children's pain experience and the observed pain behaviour was monitored. PATIENTS/METHODS: Block-randomization were used and 120 children at the age of 6-12 years who were visiting the general pediatric and coagulation outpatient clinics were included in this study. Pain expectation and experience were assessed with the Face-Pain-Scale-Revised and the pain behavior with the Faces-Legs-Activity-Cry-Consolability Scale. Multivariate covariance analysis was used for data analysis. RESULTS: The results showed that with statistical controlling the influence of the primary pain expectation (baseline) the pain expectation before blood withdrawal was reduced significantly (p=0.001) and effectively (ES=0.56) using the picture book. Children who received no local anaesthesia reported that they felt less pain during blood drawing after reading the picture book. The few children with local anaesthesia reported no benefit from the picture book. The observed use of local anaesthesia was very heterogeneous. CONCLUSIONS: The results recommend the usage of this picture book in everyday practice, if the use of local anaesthesia could not be used in an appropriate way.


Assuntos
Dor Aguda/prevenção & controle , Dor Aguda/psicologia , Biblioterapia/métodos , Coleta de Amostras Sanguíneas/psicologia , Enquadramento Psicológico , Anestesia Local , Criança , Feminino , Alemanha , Humanos , Masculino , Ambulatório Hospitalar , Medição da Dor/métodos , Estudos Prospectivos
8.
Insect Mol Biol ; 21(3): 383-94, 2012 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-22568680

RESUMO

Transcriptional activity of nuclear receptors is the result of transactivation capability and the concentration of the receptor protein. The concentration of ecdysteroid receptor (EcR) isoforms, constitutively expressed in mammalian CHO cells, is dependent on a number of factors. As shown previously, ligand binding stabilizes receptor protein concentration. In this paper, we investigate the degradation of EcR isoforms and provide evidence that N-terminal degradation is modulated by isoform-specific ubiquitination sites present in the A/B domains of EcR-A and -B1. This was demonstrated by the increase in EcR concentration by treatment with carbobenzoxy-L-leucyl-L-leucyl-L-leucinal (MG132), an inhibitor of ubiquitin-mediated proteasomal degradation and by deletion of ubiquitination sites. In addition, EcR is degraded by the peptidyl-dipeptidase cathepsin B (CatB) and the endopeptidase cathepsin S (CatS) at the C-terminus in an isoform-specific manner, despite identical C-termini. Ubiquitin-proteasome-mediated degradation and the proteolytic action are modulated by heterodimerization with Ultraspiracle (USP). The complex regulation of receptor protein concentration offers an additional opportunity to regulate transcriptional activity in an isoform- and target cell-specific way and allows the temporal limitation of hormone action.


Assuntos
Cisteína Proteases/metabolismo , Mamíferos/metabolismo , Complexo de Endopeptidases do Proteassoma/metabolismo , Proteólise , Receptores de Esteroides/química , Receptores de Esteroides/metabolismo , Treonina/metabolismo , Sequência de Aminoácidos , Animais , Western Blotting , Células CHO , Calpaína/antagonistas & inibidores , Calpaína/metabolismo , Catepsinas/antagonistas & inibidores , Catepsinas/metabolismo , Cricetinae , Proteínas de Drosophila/antagonistas & inibidores , Proteínas de Drosophila/metabolismo , Drosophila melanogaster/metabolismo , Leupeptinas/farmacologia , Dados de Sequência Molecular , Oligopeptídeos/farmacologia , Inibidores de Proteases/farmacologia , Inibidores de Proteassoma , Isoformas de Proteínas/química , Isoformas de Proteínas/genética , Isoformas de Proteínas/metabolismo , Multimerização Proteica/efeitos dos fármacos , Estabilidade Proteica/efeitos dos fármacos , Estrutura Terciária de Proteína , Proteólise/efeitos dos fármacos , Receptores de Esteroides/genética , Treonina/antagonistas & inibidores , Transcrição Gênica/efeitos dos fármacos , Ubiquitinação/efeitos dos fármacos
9.
J Inherit Metab Dis ; 35(1): 51-63, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22033733

RESUMO

Deficiency of propionyl CoA carboxylase (PCC), a dodecamer of alpha and beta subunits, causes inherited propionic acidemia. We have studied, at the molecular level, PCC in 54 patients from 48 families comprised of 96 independent alleles. These patients of various ethnic backgrounds came from research centers and hospitals in Germany, Austria and Switzerland. The thorough clinical characterization of these patients was described in the accompanying paper (Grünert et al. 2012). In all 54 patients, many of whom originated from consanguineous families, the entire PCCB gene was examined by genomic DNA sequencing and in 39 individuals the PCCA gene was also studied. In three patients we found mutations in both PCC genes. In addition, in many patients RT-PCR analysis of lymphoblast RNA, lymphoblast enzyme assays, and expression of new mutations in E.coli were carried out. Eight new and eight previously detected mutations were identified in the PCCA gene while 15 new and 13 previously detected mutations were found in the PCCB gene. One missense mutation, p.V288I in the PCCB gene, when expressed in E.coli, yielded 134% of control activity and was consequently classified as a polymorphism in the coding region. Numerous new intronic polymorphisms in both PCC genes were identified. This study adds a considerable amount of new molecular data to the studies of this disease.


Assuntos
Análise Mutacional de DNA , Acidemia Propiônica/diagnóstico , Acidemia Propiônica/genética , Adolescente , Alelos , Criança , Pré-Escolar , Escherichia coli/genética , Feminino , Humanos , Lactente , Íntrons , Linfócitos/citologia , Masculino , Mutagênese , Mutação , Polimorfismo Genético , Proteínas Recombinantes/metabolismo , Reação em Cadeia da Polimerase Via Transcriptase Reversa/métodos
10.
J Inherit Metab Dis ; 35(1): 41-9, 2012 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-22134541

RESUMO

BACKGROUND: Whereas propionic acidemia (PA) is a target disease of newborn screening (NBS) in many countries, it is not in others. Data on the benefit of NBS for PA are sparse. STUDY DESIGN: Twenty PA patients diagnosed through NBS were compared to 35 patients diagnosed by selective metabolic screening (SMS) prompted by clinical findings, family history, or routine laboratory test results. Clinical and biochemical data of patients from 16 metabolic centers in Germany, Austria, and Switzerland were evaluated retrospectively. Additionally, assessment of the intelligent quotient (IQ) was performed. In a second step, the number of PA patients who have died within the past 20 years was estimated based on information provided by the participating metabolic centers. RESULTS: Patients diagnosed through NBS had neither a milder clinical course regarding the number of metabolic crises nor a better neurological outcome. Among NBS patients, 63% were already symptomatic at the time of diagnosis, and <10% of all patients remained asymptomatic. Among all PA patients, 76% were found to be at least mildly mentally retarded, with an IQ <69. IQ was negatively correlated with the number of metabolic decompensations, but not simply with the patients' age. Physical development was also impaired in the majority of patients. Mortality rates tended to be lower in NBS patients compared with patients diagnosed by SMS. CONCLUSION: Early diagnosis of PA through NBS seems to be associated with a lower mortality rate. However, no significant benefit could be shown for surviving patients with regard to their clinical course, including the number of metabolic crises, physical and neurocognitive development, and long-term complications.


Assuntos
Triagem Neonatal/métodos , Acidemia Propiônica/diagnóstico , Adolescente , Áustria , Criança , Pré-Escolar , Feminino , Alemanha , Humanos , Lactente , Recém-Nascido , Testes de Inteligência , Masculino , Pacientes Ambulatoriais , Estudos Retrospectivos , Inquéritos e Questionários , Suíça
11.
Orphanet J Rare Dis ; 17(1): 370, 2022 10 04.
Artigo em Inglês | MEDLINE | ID: mdl-36195888

RESUMO

BACKGROUND: Metachromatic leukodystrophy (MLD), a relentlessly progressive and ultimately fatal condition, is a rare autosomal recessive lysosomal storage disorder caused by a deficiency of the enzyme arylsulfatase A (ARSA). Historically management has been palliative or supportive care. Hematopoietic stem cell transplantation is poorly effective in early-onset MLD and benefit in late-onset MLD remains controversial. Hematopoietic stem cell gene therapy, Libmeldy (atidarsagene autotemcel), was recently approved by the European Medicines Agency for early-onset MLD. Treatment benefit is mainly observed at an early disease stage, indicating the need for early diagnosis and intervention. This study contributes insights into the caregiver language used to describe initial MLD symptomatology, and thereby aims to improve communication between clinicians and families impacted by this condition and promote a faster path to diagnosis. RESULTS: Data was collected through a moderator-assisted online 60-min survey and 30-min semi-structured follow-up telephone interview with 31 MLD caregivers in the United States (n = 10), France (n = 10), the United Kingdom (n = 5), and Germany (n = 6). All respondents were primary caregivers of a person with late infantile (n = 20), juvenile (n = 11) or borderline late infantile/juvenile (n = 1) MLD (one caregiver reported for 2 children leading to a sample of 32 individuals with MLD). Caregivers were asked questions related to their child's initial signs and symptoms, time to diagnosis and interactions with healthcare providers. These results highlight the caregiver language used to describe the most common initial symptoms of MLD and provide added context to help elevate the index of suspicion of disease. Distinctions between caregiver descriptions of late infantile and juvenile MLD in symptom onset and disease course were also identified. CONCLUSIONS: This study captures the caregiver description of the physical, behavioral, and cognitive signs of MLD prior to diagnosis. The understanding of the caregiver language at symptom onset sheds light on a critical window of often missed opportunity for earlier diagnosis and therapeutic intervention in MLD.


Assuntos
Leucodistrofia Metacromática , Doenças por Armazenamento dos Lisossomos , Cuidadores , Cerebrosídeo Sulfatase/genética , Criança , Progressão da Doença , Humanos , Leucodistrofia Metacromática/diagnóstico , Leucodistrofia Metacromática/terapia
12.
Insect Mol Biol ; 20(4): 417-28, 2011 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-21585578

RESUMO

Although it has no ligand, helix 12 in the ligand binding domain of Ultraspiracle (USP) is locked in an antagonistic position. To investigate whether this position is of functional importance, we enhanced the flexibility of helix 12 by mutating two amino acids (259, located in L1-3 and F491 in helix 12). Mutated USP reduces the stability of USP and all isoforms of the ecdysone receptor (EcR) and impairs nuclear localization and DNA binding of EcR/USP(L259A/F491/A), resulting in lower levels of basal transcriptional activity. Although the affinity of the ligand ponasterone A to EcR/USP(L259/F491) is moderately diminished, hormone-induced stimulation of transcriptional activity is normal. Potentiation of the ecdysone response by juvenile hormone (JH) is selectively increased in mutated heterodimers with EcR-B1, demonstrating that the antagonistic position impairs functional interaction of the EcR complex with JHIII.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Drosophila melanogaster/metabolismo , Receptores de Esteroides/metabolismo , Fatores de Transcrição/metabolismo , Animais , Células CHO , Núcleo Celular/metabolismo , Cricetinae , Cricetulus , DNA/metabolismo , Proteínas de Ligação a DNA/genética , Proteínas de Drosophila , Drosophila melanogaster/genética , Células HEK293 , Humanos , Isoformas de Proteínas , Multimerização Proteica , Fatores de Transcrição/genética , Transcrição Gênica
13.
Insect Mol Biol ; 20(6): 701-11, 2011 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-21895819

RESUMO

Transcriptional activity of nuclear receptors is the result of transactivation capability and receptor protein concentration. The concentration of ecdysteroid receptor (EcR) constitutively expressed in vertebrate cells varies depending on the isoforms. Besides ligand binding and heterodimerization with ultraspiracle (USP), which stabilizes receptor protein concentration, degradation is regulated by interaction of the receptor complex with different ecdysteroid response elements (EcREs). Coexpression of EcREs significantly reduces ecdysteroid receptor concentration depending on the type of EcRE. Transcriptional activity and interaction with hormone response elements (HREs) as determined by Electrophoretic Mobility Shift Assay (EMSA) are often inversely related to receptor protein concentration. The complex regulation of receptor protein concentration offers an additional opportunity to regulate transcriptional activity in an isoform- and target cell-specific manner and allows the temporal limitation of hormone action.


Assuntos
Proteínas de Ligação a DNA/metabolismo , Proteínas de Drosophila/metabolismo , Receptores de Esteroides/metabolismo , Elementos de Resposta , Fatores de Transcrição/metabolismo , Animais , Células CHO , Cricetinae , DNA/metabolismo , Drosophila , Técnicas de Transferência de Genes , Multimerização Proteica
14.
J Med Genet ; 47(1): 22-9, 2010 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-19592390

RESUMO

BACKGROUND: Over the last few years, array-comparative genomic hybridisation (CGH) has considerably improved our ability to detect cryptic unbalanced rearrangements in patients with syndromic mental retardation. METHOD: Molecular karyotyping of six patients with syndromic mental retardation was carried out using whole-genome oligonucleotide array-CGH. RESULTS: 5q14.3 microdeletions ranging from 216 kb to 8.8 Mb were detected in five unrelated patients with the following phenotypic similarities: severe mental retardation with absent speech, hypotonia and stereotypic movements. Facial dysmorphic features, epilepsy and/or cerebral malformations were also present in most of these patients. The minimal common deleted region of these 5q14 microdeletions encompassed only MEF2C, the gene for a protein known to act in brain as a neurogenesis effector, which regulates excitatory synapse number. In a patient with a similar phenotype, an MEF2C nonsense mutation was subsequently identified. CONCLUSION: Taken together, these results strongly suggest that haploinsufficiency of MEF2C is responsible for severe mental retardation with stereotypic movements, seizures and/or cerebral malformations.


Assuntos
Cérebro/anormalidades , Deleção Cromossômica , Cromossomos Humanos Par 5/genética , Epilepsia/genética , Deficiência Intelectual/genética , Proteínas de Domínio MADS/genética , Fatores de Regulação Miogênica/genética , Transtorno de Movimento Estereotipado/genética , Cérebro/metabolismo , Criança , Pré-Escolar , Haploidia , Humanos , Lactente , Fatores de Transcrição MEF2
15.
Sci Total Environ ; 751: 141728, 2021 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-32890797

RESUMO

Trees significantly impact land-atmosphere feedbacks through evapotranspiration, photosynthesis and isoprene emissions. These processes influence the local microclimate, air quality and can mitigate temperature extremes and sequester carbon dioxide. Despite such importance, currently only 5 out of 15 atmospheric chemistry climate models even partially account for the presence of cropland trees. We first show that the tree cover over intensely farmed regions in Asia, Australia and South America is significantly underestimated (e.g. only 1-3% tree cover over north-India) in the Model of Emissions of Gases and Aerosol from Nature (MEGAN) and absent in Noah land-surface module of the Weather Research and Forecasting (WRF-Chem) Model. By including the actual tree cover (~10%) over the north-west Indo Gangetic Plain in the Noah land-surface module of the WRF-Chem and the MEGAN module, during the rice growing monsoon season in August, we find that the latent heat flux alone increases by 100%-300% while sensible heat flux reduces by 50%-100%, leading to a reduction in daytime boundary layer height by 200-400 m. This greatly improves agreement between the modelled and measured temperature, boundary layer height and surface ozone, which were earlier overestimated and isoprene and its oxidation products which were earlier underestimated. Mitigating peak daytime temperatures and ozone improves rice production by 10 to 20%. Our findings from north west Indo-Gangetic Plain establish that such plantations mitigate heat stress, and have beneficial effects on crop yields while also sequestering carbon. Expanding agroforestry practices to 50% of the cropland area could result in up to 40% yield gain regionally. Implementing such strategies globally could increase crop production and sequester 0.3-30 GtC per year, and therefore future climate mitigation and food security efforts should consider stakeholder participation for increased cropland agroforestry in view of its beneficial effects.


Assuntos
Poluentes Atmosféricos , Ozônio , Poluentes Atmosféricos/análise , Ásia , Atmosfera , Austrália , Produtos Agrícolas , Monitoramento Ambiental , Índia , Ozônio/análise , América do Sul , Temperatura , Árvores
16.
Neuroimage ; 51(1): 261-6, 2010 May 15.
Artigo em Inglês | MEDLINE | ID: mdl-20139009

RESUMO

Functional MRI (fMRI) most commonly employs 2D echo-planar imaging (EPI). The advantages for fMRI brought about by the increasingly popular ultra-high field strengths are best exploited in high-resolution acquisitions, but here 2D EPI becomes impractical for several reasons, including the very long volume acquisitions times. In this study at 7 T, a 3D EPI sequence with full parallel and partial Fourier imaging capability along both phase encoding axes was implemented and used to evaluate the sensitivity of 3D and corresponding 2D EPI acquisitions at four different spatial resolutions ranging from small to typical voxel sizes (1.5-3.0 mm isotropic). Whole-brain resting state measurements (N=4) revealed a better, or at least comparable sensitivity of the 3D method for gray and white matter. The larger vulnerability of 3D to physiological effects was outweighed by the much shorter volume TR, which moreover allows whole-brain coverage at high resolution within fully acceptable limits for event-related fMRI: TR was only 3.07 s for 1.5 mm, 1.88 s for 2.0 mm, 1.38 s for 2.5 mm and 1.07 s for 3.0 mm isotropic resolution. In order to investigate the ability to detect and spatially resolve BOLD activation in the visual cortex, functional 3D EPI experiments (N=8) were performed at 1 mm isotropic resolution with parallel imaging acceleration of 3x3, resulting in a TR of only 3.2 s for whole-brain coverage. From our results, and several other practical advantages of 3D over 2D EPI found in the present study, we conclude that 3D EPI provides a useful alternative for whole-brain fMRI at 7 T, not only when high-resolution data are required.


Assuntos
Mapeamento Encefálico/métodos , Encéfalo/fisiologia , Imagem Ecoplanar/métodos , Imageamento Tridimensional/métodos , Imageamento por Ressonância Magnética/métodos , Encéfalo/irrigação sanguínea , Mapeamento Encefálico/instrumentação , Circulação Cerebrovascular/fisiologia , Imagem Ecoplanar/instrumentação , Análise de Fourier , Humanos , Imageamento Tridimensional/instrumentação , Imageamento por Ressonância Magnética/instrumentação , Fibras Nervosas Mielinizadas/fisiologia , Fibras Nervosas Amielínicas/fisiologia , Oxigênio/sangue , Estimulação Luminosa , Fatores de Tempo , Córtex Visual/irrigação sanguínea , Córtex Visual/fisiologia
17.
Biol Lett ; 6(3): 329-32, 2010 Jun 23.
Artigo em Inglês | MEDLINE | ID: mdl-20071394

RESUMO

Animals often exhibit particular 'personalities', i.e. their behaviour is correlated across different situations. Recent studies suggest that this limitation of behavioural plasticity may be adaptive, since continuous adjustment of one's behaviour may be time-consuming and costly. In social insects, particularly aggressive workers might efficiently take over fighting in the contexts of both nest defence and 'policing', i.e. the regulation of kin conflict in the society. Here, we examine whether workers who engage in aggressive policing in the ant Platythyrea punctata play a prominent role also in nest defence against intruders. The participation of individuals in policing and nest defence was highly skewed and a minority of workers exhibited most of the aggression. Workers who attacked reproductives after experimental colony fusion were less active during nest defence and vice versa. This suggests that workers show situation-dependent behavioural plasticity rather than consistently aggressive personalities.


Assuntos
Agressão/fisiologia , Formigas/fisiologia , Animais , Comportamento Animal , Feminino , Masculino , Comportamento Social
18.
Cell Mol Life Sci ; 66(24): 3837-50, 2009 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-19669094

RESUMO

Several reviews devoted to various aspects of ecdysone research have been published during the last few years. Therefore, this article concentrates mainly on the considerable progress in ecdysone research observed recently, and will cover the results obtained during the last 2 years. The main emphasis is put on the molecular mode of ecdysteroid receptor-mediated hormone action. Two examples of interaction with other hormonal signalling pathways are described, namely crosstalk with juvenile hormone and insulin. Some selected, recently investigated examples of the multitude of hormonal responses are described. Finally, ecological aspects and some practical applications are discussed.


Assuntos
Ecdisteroides/metabolismo , Receptores de Esteroides/metabolismo , Transdução de Sinais , Animais , Artrópodes/crescimento & desenvolvimento , Artrópodes/metabolismo , Ecdisona/metabolismo , Modelos Biológicos , Sesquiterpenos/metabolismo
19.
J Cell Biol ; 111(6 Pt 1): 2451-61, 1990 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-2277067

RESUMO

Isolated cell preparations from chicken gizzard smooth muscle typically contain a mixture of cell fragments and whole cells. Both species are spontaneously permeable and may be preloaded with externally applied phalloidin and antibodies and then induced to contract with Mg ATP. Labeling with antibodies revealed that the cell fragments specifically lacked certain cytoskeletal proteins (vinculin, filamin) and were depleted to various degrees in others (desmin, alpha-actinin). The cell fragments showed a unique mode of supercontraction that involved the protrusion of actin filaments through the cell surface during the terminal phase of shortening. In the presence of dextran, to minimize protein loss, the supercontracted products were star-like in form, comprising long actin bundles radiating in all directions from a central core containing myosin, desmin, and alpha-actinin. It is concluded that supercontraction is facilitated by an effective uncoupling of the contractile apparatus from the cytoskeleton, due to partial degradation of the latter, which allows unhindered sliding of actin over myosin. Homogenization of the cell fragments before or after supercontraction produced linear bipolar dimer structures composed of two oppositely polarized bundles of actin flanking a central bundle of myosin filaments. Actin filaments were shown to extend the whole length of the bundles and their length averaged integral to 4.5 microns. Myosin filaments in the supercontracted dimers averaged 1.6 microns in length. The results, showing for the first time the high actin to myosin filament length ratio in smooth muscle are readily consistent with the slow speed of shortening of this tissue. Other implications of the results are also discussed.


Assuntos
Citoesqueleto de Actina/ultraestrutura , Músculo Liso/ultraestrutura , Actinas/análise , Animais , Galinhas , Proteínas do Citoesqueleto/análise , Moela das Aves/citologia , Moela das Aves/ultraestrutura , Immunoblotting , Microscopia Eletrônica , Microscopia Imunoeletrônica , Músculo Liso/citologia
20.
Cerebrovasc Dis ; 28(5): 481-9, 2009.
Artigo em Inglês | MEDLINE | ID: mdl-19752549

RESUMO

BACKGROUND: The objective of this study was to establish whether 3D computed tomographic angiography (CTA) can be used to determine further management in patients older than 70 years admitted with acute subarachnoid hemorrhage (SAH). PATIENTS AND METHODS: CTA evaluation included analysis of the source images, image-slice-based multiplanar reconstruction, multi-intensity projection (MIP) and finally 3-dimensional rendering. The location and size of the aneurysm, its precise anatomical morphology and the configuration of the circle of Willis were evaluated. Based on these findings, surgery, endovascular coiling or conservative management was selected. RESULTS: Between October 2001 and June 2005, 44 patients over 70 years of age (38 females, 6 males) were admitted to our neurosurgical department with acute SAH. All patients underwent CTA, and additional 2D digital subtraction angiography (2D-DSA) was performed in 14 patients. Forty-five aneurysms (38 ruptured and 7 unruptured) were diagnosed. Six patients were found to have SAH of unknown origin (no aneurysm on CTA nor 2D-DSA). In 20 patients surgery was performed, in 10 patients endovascular coiling of the aneurysm was carried out, and 12 patients were treated conservatively. The findings on CTA and 2D-DSA could be compared for 26 patients (59%). Correlation between CTA and 2D-DSA was good in 25 of these cases (96%). Glasgow Outcome Scale scores of 4 or 5 were calculated for 37% of the operated patients, 27% of those treated with coils, and 36% of the patients treated conservatively. CONCLUSION: In older patients with degenerative vascular diseases, CTA can replace 2D-DSA in most cases if the image quality is excellent and analysis is performed carefully.


Assuntos
Hemorragia Subaracnóidea/diagnóstico por imagem , Hemorragia Subaracnóidea/terapia , Idoso , Idoso de 80 Anos ou mais , Feminino , Escala de Resultado de Glasgow , Humanos , Processamento de Imagem Assistida por Computador , Masculino , Pessoa de Meia-Idade , Estudos Retrospectivos , Hemorragia Subaracnóidea/diagnóstico , Tomografia Computadorizada por Raios X
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