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1.
Acute Med ; 22(4): 209-257, 2023.
Artigo em Inglês | MEDLINE | ID: mdl-38284637

RESUMO

OBJECTIVE: To determine factors affecting inpatient sleep and assess the range and effectiveness of non-pharmacological interventions aimed at improving the sleep of patients admitted to regular care wards. METHODS: A systematic literature search was conducted in five scientific databases, including articles published from inception to June 23rd, 2023. Eligible studies evaluated sleep disturbing factors or the effect of non-pharmacological intervention(s). Meta-analyses on intervention studies were conducted using a random effects model. Certainty of evidence was assessed using the GRADE approach. RESULTS: Out of 591 potentially eligible studies, 229 were included in this review. Sleep disturbers were identified in 153 studies, and 102 studies were eligible for meta-analysis. Common factors contributing to poor sleep included noise, light, care-related interruptions, pain, and anxiety. The meta-analyses revealed large pooled effects in favor of sleep for the use of eye masks and earplugs, headphones and white noise, aromatherapy, massage, muscle relaxation and breathing exercises, and advanced nursing strategies. However, the certainty of the evidence ranged from moderate to very low. CONCLUSION: Inpatient sleep is often disturbed by patient-related, care-related, and environmental factors. While there are promising non-pharmacological interventions, the overall quality of studies, heterogeneity in study populations, and differences in outcome measures present challenges for drawing definitive conclusions.


Assuntos
Hospitais , Pacientes Internados , Humanos , Hospitalização , Sono
2.
Resour Conserv Recycl ; 164: 105140, 2021 Jan.
Artigo em Inglês | MEDLINE | ID: mdl-32921915

RESUMO

The Trans-Atlantic Research and Development Interchange on Sustainability Workshop (TARDIS) is a meeting on scientific topics related to sustainability. The 2019 workshop theme was "On the Role of Uncertainty in Managing the Earth for Global Sustainability." This paper presents the perspectives on this topic derived from talks and discussions at the 2019 TARDIS workshop. There are four kinds of uncertainties encountered in sustainability ranging from clear enough futures to true surprises. The current state-of-the-art in assessing and mitigating these uncertainties is discussed.

3.
Trop Anim Health Prod ; 52(4): 2179-2189, 2020 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-32128662

RESUMO

Cattle production is an essential livelihood strategy in south-western Burkina Faso. Although having a distinct cultural role and known to be resistant against African animal trypanosomosis, the Lobi taurine cattle breed is endangered due to its low market value. As the first step in preservation efforts, our study aimed to develop a typology of production systems at the farm level. We used a structured questionnaire and focus group discussions for collecting data on household characteristics, socioeconomic activities, livestock, and access to services. The sample comprised 169 households in three communities. The analytical strategy included factor analysis of mixed data and hierarchical clustering. We identified four distinct types of cattle production systems: (1) sedentary Lobi farms, (2) sedentary crossbreed farms, (3) semi-transhumant Fulani zebu farms, and (4) transhumant Fulani zebu farms. Significant factors in developing this typology were the farmers' ethnic group, crop diversity, cattle herd size, cattle herd composition, number of small ruminants, and livestock management strategies. Across all production systems, men were considered being primary decision-makers in cattle production, with women, herders, and children being responsible for specific tasks. All identified production systems are increasingly confronting disease pressure and scarcity of water and land. Future efforts in preservation and breeding will need to respond to these trends in the agroecosystem, integrate risk management measures, and resonate with the specific needs of the different household members involved in cattle rearing.


Assuntos
Criação de Animais Domésticos , Cruzamento , Fazendeiros , Gado , Animais , Burkina Faso , Bovinos , Características da Família , Fazendas , Feminino , Grupos Focais , Humanos , Masculino , Inquéritos e Questionários
4.
Anim Genet ; 50(6): 598-612, 2019 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-31532019

RESUMO

Old World camels have served humans in cross-continental caravans, transporting people and goods, connecting different cultures and providing milk, meat, wool and draught since their domestication around 3000-6000 years ago. In a world of modern transport and fast connectivity, these beasts of burden seem to be out-dated. However, a growing demand for sustainable milk and meat production, especially in countries affected by climate change and increasing desertification, brings dromedaries (Camelus dromedarius) and Bactrian camels (Camelus bactrianus) back onstage and into the focus of animal breeders and scientists. In this review on the molecular genetics of these economically important species we give an overview about the evolutionary history, domestication and dispersal of Old World camels, whereas highlighting the need for conservation of wild two-humped camels (Camelus ferus) as an evolutionarily unique and highly endangered species. We provide cutting-edge information on the current molecular resources and on-going sequencing projects. We cannot emphasise enough the importance of balancing the need for improving camel production traits with maintaining the genetic diversity in two domestic species with specific physiological adaptation to a desert environment.


Assuntos
Camelus/genética , Migração Animal , Animais , Evolução Biológica , Camelus/anatomia & histologia , Camelus/classificação , Camelus/fisiologia , Domesticação , Hibridização Genética
5.
Rev Neurol (Paris) ; 175(6): 390-395, 2019 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-30736986

RESUMO

INTRODUCTION: Stroke is a public health priority in France. The use of telemedicine for stroke known as telestroke, is a safe and effective practice improving access to acute stroke care including thrombolysis. Telestroke is currently being implemented in France. The objective was to describe the public health policy supporting telestroke implementation in France. METHODS: An external ex-post evaluation of telestroke policy in France was conducted through a retrospective descriptive study from 2003 to 31st December 2016. Process, content, and actors of the health policy were described at a national level. The logical framework of the telestroke policy was described. The stages model of public policy from the 'Institut National de Santé Publique du Quebec' was used. RESULTS: Agenda setting was produced from 2003 to 2007. Policy formulation lasted from 2008 to 2009 with official reports on telemedicine, telehealth and stroke. The decision-making stage included the national stroke plan, the national telemedicine implementation strategy and an administrative document in 2012 that described the organization of telestroke implementation. Implementation in 2011 was initiated with dedicated funding and methodological resources. No dedicated evaluation of policy for telestroke was defined. CONCLUSIONS: Using a health policy model allowed to describe the policies supporting telestroke implementation in France and to highlight the need for better evaluation.


Assuntos
Fibrinolíticos/uso terapêutico , Política de Saúde , Acidente Vascular Cerebral/tratamento farmacológico , Telemedicina , Terapia Trombolítica , Cuidados Críticos/legislação & jurisprudência , Cuidados Críticos/métodos , França , Implementação de Plano de Saúde/legislação & jurisprudência , Implementação de Plano de Saúde/normas , Política de Saúde/legislação & jurisprudência , Humanos , Avaliação de Programas e Projetos de Saúde , Estudos Retrospectivos , Telemedicina/legislação & jurisprudência , Telemedicina/métodos , Terapia Trombolítica/métodos , Terapia Trombolítica/normas
6.
Phys Rev Lett ; 112(4): 047001, 2014 Jan 31.
Artigo em Inglês | MEDLINE | ID: mdl-24580480

RESUMO

The nematic susceptibility, χφ, of hole-doped Ba(1-x)K(x)Fe2As2 and electron-doped Ba(Fe(1-x)Co(x))2As2 iron-based superconductors is obtained from measurements of the elastic shear modulus using a three-point bending setup in a capacitance dilatometer. Nematic fluctuations, although weakened by doping, extend over the whole superconducting dome in both systems, suggesting their close tie to superconductivity. Evidence for quantum critical behavior of χφ is, surprisingly, only found for Ba(Fe(1-x)Co(x))2As2 and not for Ba(1-x)K(x)Fe2As2--the system with the higher maximal Tc value.

7.
Anim Genet ; 45(4): 550-8, 2014 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-24749721

RESUMO

The tradition of animal husbandry in the context of a nomadic lifestyle has been of great significance in the Mongolian society. Both Bactrian camels and horses have been invaluable for the survival and development of human activities in the harsh arid environment of the Mongolian steppe. As camels offer unique and sustainable opportunities for livestock production in marginal agro-ecological zones, we investigated the current genetic diversity of three local Mongolian camel breeds and compared their levels of variation with common native Mongolian camels distributed throughout the country. Based on mitochondrial and nuclear markers, we found levels of genetic diversity in Mongolian populations similar to that reported for Chinese Bactrian camels and for dromedaries. Little differentiation was detected between single breeds, except for a small group originating from the northwestern Mongolian Altai. We found neither high inbreeding levels in the different breeds nor evidence for a population decline. Although the Mongolian camel census size has severely declined over the past 20 years, our analyses suggest that there still exists a stable population with adequate genetic variation for continued sustainable utilization.


Assuntos
Camelus/genética , Variação Genética , Animais , Núcleo Celular/genética , DNA Mitocondrial/genética , Dados de Sequência Molecular , Mongólia , Reação em Cadeia da Polimerase/veterinária , Análise de Sequência de DNA/veterinária
8.
Environ Manage ; 54(5): 935-50, 2014 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-25156863

RESUMO

It has become increasingly clear that desertification can only be tackled through a multi-disciplinary approach that not only involves scientists but also stakeholders. In the DESIRE project such an approach was taken. As a first step, a conceptual framework was developed in which the factors and processes that may lead to land degradation and desertification were described. Many of these factors do not work independently, but can reinforce or weaken one another, and to illustrate these relationships sustainable management and policy feedback loops were included. This conceptual framework can be applied globally, but can also be made site-specific to take into account that each study site has a unique combination of bio-physical, socio-economic and political conditions. Once the conceptual framework was defined, a methodological framework was developed in which the methodological steps taken in the DESIRE approach were listed and their logic and sequence were explained. The last step was to develop a concrete working plan to put the project into action, involving stakeholders throughout the process. This series of steps, in full or in part, offers explicit guidance for other organizations or projects that aim to reduce land degradation and desertification.


Assuntos
Recuperação e Remediação Ambiental/métodos , Modelos Teóricos , Desenvolvimento de Programas , Política Pública , Clima Desértico , Recuperação e Remediação Ambiental/tendências , Humanos
9.
Schweiz Arch Tierheilkd ; 166(10): 500-510, 2024 Oct.
Artigo em Alemão | MEDLINE | ID: mdl-39330955

RESUMO

INTRODUCTION: Veterinary students suffer from increased psychological stress compared to the general public and are increasingly affected by manifest mental illnesses such as depression and anxiety disorders, as well as an increased prevalence of suicidal thoughts. Additionally, veterinary students tend to ignore signs of mental distress and do not seek support for their mental health issues. This impaired mental health is also evident in fully trained veterinarians, who, among other things, have the highest suicide rates of all medical professions. In our survey, we examined a total of 428 veterinary students at the two veterinary faculties of the Universities of Zurich and Bern. The survey was carried out across all six years of the curriculum as a cross-sectional survey using standardized questionnaires on resilience, sense of coherence and depression. In all years, the students showed increased levels of depression compared to the general public, and the salutogenic parameters of resilience and sense of coherence were also reduced. The constellation with increased depression, reduced resilience and reduced sense of coherence was particularly accentuated in the second and third year. The increased affective stress on students presents itself as a consistent condition, which - if you look at studies on fully trained veterinarians - continues into their working life together with a reduced ability to cope. The low number of participants in the higher years of study and the high number of female study participants could limit the generalizability of the results. In addition, the data was collected in spring 2021 during the COVID-19 pandemic, which may have influenced the results. Active counteracting, for example by integrating the teaching of protective behavior such as mindful self-compassion and resource-oriented behavior such as mind-body techniques, therefore appears to be recommended in the veterinary training curriculum from the first semester onwards. Various measures to support students have been introduced since 2021, such as events on learning strategies, a mentoring system and seminars on mental health.


INTRODUCTION: Les étudiants en médecine vétérinaire souffrent d'un stress psychologique plus important que le grand public et sont de plus en plus touchés par des maladies paychiques manifestes telles que la dépression et les troubles anxieux, ainsi que par une prévalence accrue de pensées suicidaires. En outre, les étudiants en médecine vétérinaire ont tendance à ignorer les signes de détresse mentale et ne cherchent pas de soutien pour leurs problèmes de santé mentale. Cette détérioration de la santé mentale est également évidente chez les vétérinaires formés, qui, entre autres, présentent les taux de suicide les plus élevés de toutes les professions médicales. Dans notre enquête, nous avons examiné un total de 428 étudiants vétérinaires des deux facultés vétérinaires des universités de Zurich et de Berne. L'enquête a été menée sur les six années du cursus sous forme d'enquête transversale à l'aide de questionnaires standardisés sur la résilience, le sentiment de cohérence et la dépression. Pour toutes les années, les étudiants ont montré des niveaux de dépression plus élevés que le grand public, et les paramètres salutogènes de la résilience et du sentiment de cohérence ont également été réduits. La constellation avec une dépression accrue, une résilience réduite et un sentiment de cohérence réduit était particulièrement accentuée en deuxième et troisième année. Le stress affectif accru des étudiants se présente comme un état constant qui, si on examine les études sur les vétérinaires ayant reçu une formation complète, se poursuit dans leur vie professionnelle, accompagné d'une capacité réduite à faire face. Le faible nombre de participants dans les années d'études supérieures et le nombre élevé de participantes à l'étude pourraient limiter la généralisation des résultats. En outre, les données ont été collectées au printemps 2021, pendant la pandémie de COVID-19, ce qui a pu influencer les résultats. La lutte active, par exemple en intégrant l'enseignement d'un comportement protecteur tel que l'autocompassion consciente et d'un comportement orienté vers les ressources tel que les techniques corps-esprit, semble donc être recommandée dans le programme de formation vétérinaire dès le premier semestre. Diverses mesures de soutien aux étudiants ont été introduites depuis 2021, telles que des événements sur les stratégies d'apprentissage, un système de mentorat et des séminaires sur la santé mentale.


Assuntos
Educação em Veterinária , Estresse Psicológico , Humanos , Estresse Psicológico/psicologia , Estudos Transversais , Inquéritos e Questionários , Feminino , COVID-19/psicologia , COVID-19/epidemiologia , Masculino , Depressão/psicologia , Suíça , Estudantes/psicologia , Médicos Veterinários/psicologia , Adulto
10.
Sleep Med Rev ; 76: 101951, 2024 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-38754209

RESUMO

Polysomnography (PSG) is the reference standard of sleep measurement, but is burdensome for the participant and labor intensive. Affordable electroencephalography (EEG)-based wearables are easy to use and are gaining popularity, yet selecting the most suitable device is a challenge for clinicians and researchers. In this systematic review, we aim to provide a comprehensive overview of available EEG-based wearables to measure human sleep. For each wearable, an overview will be provided regarding validated population and reported measurement properties. A systematic search was conducted in the databases OVID MEDLINE, Embase.com and CINAHL. A machine learning algorithm (ASReview) was utilized to screen titles and abstracts for eligibility. In total, 60 papers were selected, covering 34 unique EEG-based wearables. Feasibility studies indicated good tolerance, high compliance, and success rates. The 42 included validation studies were conducted across diverse populations and showed consistently high accuracy in sleep staging detection. Therefore, the recent advancements in EEG-based wearables show great promise as alternative for PSG and for at-home sleep monitoring. Users should consider factors like user-friendliness, comfort, and costs, as these devices vary in features and pricing, impacting their suitability for individual needs.


Assuntos
Eletroencefalografia , Polissonografia , Dispositivos Eletrônicos Vestíveis , Humanos , Eletroencefalografia/métodos , Fases do Sono/fisiologia , Sono/fisiologia
11.
Phys Rev Lett ; 111(2): 027002, 2013 Jul 12.
Artigo em Inglês | MEDLINE | ID: mdl-23889432

RESUMO

Using resistivity, heat-capacity, thermal-expansion, and susceptibility measurements we study the normal-state behavior of KFe2As2. Both the Sommerfeld coefficient (γ≈103 mJ mol(-1) K(-2)) and the Pauli susceptibility (χ≈4×10(-4)) are strongly enhanced, which confirm the existence of heavy quasiparticles inferred from previous de Haas-van Alphen and angle-resolved photoemission spectroscopy experiments. We discuss this large enhancement using a Gutzwiller slave-boson mean-field calculation, which shows the proximity of KFe2As2 to an orbital-selective Mott transition. The temperature dependence of the magnetic susceptibility and the thermal expansion provide strong experimental evidence for the existence of a coherence-incoherence crossover, similar to what is found in heavy fermion and ruthenate compounds, due to Hund's coupling between orbitals.

12.
Nat Genet ; 29(4): 404-11, 2001 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-11726927

RESUMO

Somatic inactivation of PTEN occurs in different human tumors including glioblastoma, endometrial carcinoma and prostate carcinoma. Germline mutations in PTEN result in a range of phenotypic abnormalities that occur with variable penetrance, including neurological features such as macrocephaly, seizures, ataxia and Lhermitte-Duclos disease (also described as dysplastic gangliocytoma of the cerebellum). Homozygous deletion of Pten causes embryonic lethality in mice. To investigate function in the brain, we used Cre-loxP technology to selectively inactivate Pten in specific mouse neuronal populations. Loss of Pten resulted in progressive macrocephaly and seizures. Neurons lacking Pten expressed high levels of phosphorylated Akt and showed a progressive increase in soma size without evidence of abnormal proliferation. Cerebellar abnormalities closely resembled the histopathology of human Lhermitte-Duclos disease. These results indicate that Pten regulates neuronal size in vivo in a cell-autonomous manner and provide new insights into the etiology of Lhermitte-Duclos disease.


Assuntos
Tamanho Celular/genética , Doenças Cerebelares/genética , Genes Supressores de Tumor , Neurônios/patologia , Monoéster Fosfórico Hidrolases/fisiologia , Proteínas Supressoras de Tumor/fisiologia , Animais , Encéfalo/metabolismo , Encéfalo/patologia , Proteínas de Ciclo Celular/genética , Divisão Celular/genética , Doenças Cerebelares/patologia , Inibidor de Quinase Dependente de Ciclina p27 , Modelos Animais de Doenças , Deleção de Genes , Proteína Glial Fibrilar Ácida/genética , Imuno-Histoquímica , Integrases/genética , Camundongos , Camundongos Transgênicos , PTEN Fosfo-Hidrolase , Monoéster Fosfórico Hidrolases/genética , Fosforilação , Convulsões/genética , Proteínas Supressoras de Tumor/genética , Proteínas Virais/genética
13.
Ann Anat ; 250: 152155, 2023 Oct.
Artigo em Inglês | MEDLINE | ID: mdl-37683899

RESUMO

BACKGROUND: Mental health problems are common in medical professionals and their development already starts at the undergraduate level. Studies on medical students can replicate higher prevalence for depression and burnout in this group, but they normally compare semester cohorts in an anonymized, cross-sectional approach and without a preventive perspective. METHODS: We surveyed medical students at the beginning and end of their medical curriculum and collected data on burnout, depressivity, work related experience and salutogenesis parameters with validated self-administered questionnaires. Most remarkably we obtained the data from the same 58 individuals after 5.5 years, representing data of the highest quality in order to compare the mental health status at the beginning and the end of our students´ medical curriculum. RESULTS: Our results not only show a severe exacerbation of physical, mental and emotional burnout in the participants at the end of their studies. The students also do not seem to have sufficient personal (resilience) or social resources (e.g. experience of social support) for coping with their mental health problems around the time of their graduation. CONCLUSIONS: Our participants reflect a development of mental health during their medical studies at university that is paving the way to the devastating prevalence of mental disorders and suicide in health professionals. From our results we derive an urgent need to integrate self-care and active coping in the learning goals of medical curricula.


Assuntos
Esgotamento Profissional , Estudantes de Medicina , Humanos , Saúde Mental , Estudantes de Medicina/psicologia , Estudos Longitudinais , Adaptação Psicológica , Inquéritos e Questionários , Esgotamento Profissional/epidemiologia , Esgotamento Profissional/psicologia
14.
Fortschr Neurol Psychiatr ; 80(6): 320-6, 2012 Jun.
Artigo em Alemão | MEDLINE | ID: mdl-22173965

RESUMO

In the field of adult psychiatry in German-speaking countries, little attention is as yet paid to the psychic defects that a fetus can sustain as a result of prenatal exposure to alcohol. Although children of alcohol-dependent mothers do present to psychiatric institutions as adults with manifold symptoms, e. g., attention deficit disorders, affective disorders or intellectual disability, fetal alcohol spectrum disorders are rarely diagnosed as an underlying cause. Appropriate therapy guidelines do not exist. Current review papers within the German-speaking countries usually stem from paediatric and adolescent psychiatry or medicine. Based on a selected review of the literature, the following paper addresses and discusses the disease entity of fetal alcohol spectrum disorders and fetal alcohol syndrome and their significance for adult psychiatry and also identifies open questions and research requirements, e. g., the development of diagnostic instruments or the establishment of diagnostic categories.


Assuntos
Transtornos do Espectro Alcoólico Fetal/psicologia , Efeitos Tardios da Exposição Pré-Natal/psicologia , Anormalidades Induzidas por Medicamentos/psicologia , Adolescente , Adulto , Sintomas Afetivos/etiologia , Sintomas Afetivos/psicologia , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Transtorno do Deficit de Atenção com Hiperatividade/psicologia , Feminino , Transtornos do Espectro Alcoólico Fetal/epidemiologia , Transtornos do Espectro Alcoólico Fetal/terapia , Alemanha/epidemiologia , Humanos , Doenças do Sistema Nervoso/induzido quimicamente , Doenças do Sistema Nervoso/congênito , Gravidez , Efeitos Tardios da Exposição Pré-Natal/epidemiologia , Efeitos Tardios da Exposição Pré-Natal/terapia , Escalas de Graduação Psiquiátrica , Fatores de Risco
15.
ESMO Open ; 7(1): 100388, 2022 02.
Artigo em Inglês | MEDLINE | ID: mdl-35121522

RESUMO

BACKGROUND: Pulmonary metastasis (M1-PUL) as first site of dissemination in pancreatic ductal adenocarcinoma (PDAC) is a rare event and may define a distinct biological subgroup. PATIENTS AND METHODS: Arbeitsgemeinschaft Internistische Onkologie-Young Medical Oncologists-Pankreas-0515 study (AIO-YMO-PAK-0515) was a retrospective German multicenter study investigating clinical and molecular characteristics of M1-PUL PDAC patients; 115 M1-PUL PDAC patients from 7 participating centers were included. Clinical characteristics and potential prognostic factors were defined within the M1-PUL cohort. Archival tumor samples were analyzed for Her2/neu, HNF1A and KRT81 expression. Additionally, messenger RNA (mRNA) expression analysis (using a 770-gene immune profiling panel) was carried out in the M1-PUL and in a control cohort (M1-ANY). RESULTS: Median overall survival in the entire M1-PUL cohort was 20 months; the most favorable prognosis (median survival: 28 months) was observed in the subgroup of 66 PDAC patients with metachronous lung metastases after previous curative-intent surgery. The number of metastatic lesions, uni- or bilateral lung involvement as well as metastasectomy were identified as potential prognostic factors. Her2/neu expression and PDAC subtyping (by HNF1A and KRT81) did not differ between the M1-PUL and the M1-ANY cohort. mRNA expression analysis revealed significant differentially expressed genes between both cohorts: CD63 and LAMP1 were among the top 20 differentially expressed genes and were identified as potential mediators of organotropism and favorable survival outcome of M1-PUL patients. CONCLUSION: M1-PUL represents a clinically favorable cohort in PDAC patients. Site of relapse might already be predetermined at the time of surgery and could potentially be predicted by gene expression profiling.


Assuntos
Neoplasias Pulmonares , Neoplasias Pancreáticas , Biologia , Humanos , Neoplasias Pulmonares/genética , Recidiva Local de Neoplasia , Neoplasias Pancreáticas/genética , Neoplasias Pancreáticas/patologia , Prognóstico , Estudos Retrospectivos
16.
Mol Ecol ; 20(4): 706-24, 2011 Feb.
Artigo em Inglês | MEDLINE | ID: mdl-21214655

RESUMO

The cheetah (Acinonyx jubatus) has been described as a species with low levels of genetic variation. This has been suggested to be the consequence of a demographic bottleneck 10 000-12 000 years ago (ya) and also led to the assumption that only small genetic differences exist between the described subspecies. However, analysing mitochondrial DNA and microsatellites in cheetah samples from most of the historic range of the species we found relatively deep phylogeographic breaks between some of the investigated populations, and most of the methods assessed divergence time estimates predating the postulated bottleneck. Mitochondrial DNA monophyly and overall levels of genetic differentiation support the distinctiveness of Northern-East African cheetahs (Acinonyx jubatus soemmeringii). Moreover, combining archaeozoological and contemporary samples, we show that Asiatic cheetahs (Acinonyx jubatus venaticus) are unambiguously separated from African subspecies. Divergence time estimates from mitochondrial and nuclear data place the split between Asiatic and Southern African cheetahs (Acinonyx jubatus jubatus) at 32 000-67 000 ya using an average mammalian microsatellite mutation rate and at 4700-44 000 ya employing human microsatellite mutation rates. Cheetahs are vulnerable to extinction globally and critically endangered in their Asiatic range, where the last 70-110 individuals survive only in Iran. We demonstrate that these extant Iranian cheetahs are an autochthonous monophyletic population and the last representatives of the Asiatic subspecies A. j. venaticus. We advocate that conservation strategies should consider the uncovered independent evolutionary histories of Asiatic and African cheetahs, as well as among some African subspecies. This would facilitate the dual conservation priorities of maintaining locally adapted ecotypes and genetic diversity.


Assuntos
Acinonyx/genética , Genética Populacional , Filogeografia , África , Animais , Ásia , Núcleo Celular/genética , Conservação dos Recursos Naturais , DNA Mitocondrial/genética , Evolução Molecular , Variação Genética , Genótipo , Irã (Geográfico) , Repetições de Microssatélites , Análise de Sequência de DNA
17.
Nat Med ; 1(7): 686-92, 1995 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-7585152

RESUMO

Loss of heterozygosity on chromosome 9p21 is one of the most frequent genetic alterations identified in human cancer. The rate of point mutations of p16, a candidate suppressor gene of this area, is low in most primary tumours with allelic loss of 9p21. Monosomic cell lines with structurally unaltered p16 show methylation of the 5' CpG island of p16. This distinct methylation pattern was associated with a complete transcriptional block that was reversible upon treatment with 5-deoxyazacytidine. Moreover, de novo methylation of the 5' CpG island of p16 was also found in approximately 20% of different primary neoplasms, but not in normal tissues, potentially representing a common pathway of tumour suppressor gene inactivation in human cancers.


Assuntos
Proteínas de Transporte/genética , Ilhas de CpG , Citosina/análogos & derivados , DNA de Neoplasias/genética , Regulação Neoplásica da Expressão Gênica , Genes Supressores de Tumor , Proteínas de Neoplasias/genética , 5-Metilcitosina , Alelos , Azacitidina/análogos & derivados , Azacitidina/farmacologia , Sequência de Bases , Neoplasias Encefálicas/genética , Carcinoma Pulmonar de Células não Pequenas/genética , Carcinoma de Células Escamosas/genética , Proteínas de Transporte/biossíntese , Proteínas de Transporte/fisiologia , Cromossomos Humanos Par 9 , Inibidor p16 de Quinase Dependente de Ciclina , Citosina/fisiologia , Decitabina , Regulação Neoplásica da Expressão Gênica/efeitos dos fármacos , Glioma/genética , Neoplasias de Cabeça e Pescoço/genética , Humanos , Neoplasias Pulmonares/genética , Metilação , Dados de Sequência Molecular , Proteínas de Neoplasias/biossíntese , Proteínas de Neoplasias/fisiologia , Neoplasias/genética , Neoplasias/patologia , Deleção de Sequência , Transcrição Gênica/efeitos dos fármacos , Células Tumorais Cultivadas
18.
Fortschr Neurol Psychiatr ; 79(9): 500-6, 2011 Sep.
Artigo em Alemão | MEDLINE | ID: mdl-21739408

RESUMO

Besides genetic susceptibility, environmental factors and gene-environment interactions are of central interest in research on attention deficit/hyperactivity disorder in children. Focusing on maternal behaviour during pregnancy, prenatal maternal alcohol consumption is associated with behavioural disorders in children. In animal models, developmental disorders of brain structures as well as subsequent behavioural disorders - similar to findings in attention deficit disorder - were caused by prenatal alcohol exposure. These findings occur in small rodents (mice, rats) as well as in primates and can be caused by even moderate alcohol exposure. In foetal alcohol syndrome (FAS) and foetal alcohol spectrum disease (FASD) in humans, symptoms like hyperactivity, disruptive or impulsive behaviour along with reduced attention and slower reaction time are observed. These findings resemble the symptoms of ADHD. For that reason, children diagnosed with FAS/FASD are frequently diagnosed with ADHD in parallel. Even small amounts of alcohol during pregnancy are responsible for cognitive and behavioural impairments like a significantly decreased IQ. About 50 % of adult ADHD patients show alcohol abuse or dependency and/or other substance disorders. Due to this, a higher rate of prenatal exposition to psychoactive substances for children of mothers affected with ADHD seems probable. However, there are no sufficient data on ADHD and its association to substance abuse in pregnancy, which makes it difficult to quantify the impact of genetic and environmental causes for the development of childhood ADHD. So far, no link could be proven with a high level of evidence between moderate prenatal alcohol consumption and the development of childhood ADHD. It has to be recognised that all present studies are based on self-reported alcohol consumption. Data collected by this methodology are usually severely biased to an underestimation of alcohol abuse. Objective tests for alcohol abuse in pregnancy, such as the analysis of fatty acid ethyl esters or ethyl glucuronide in foetal feces after birth, show rates of alcohol consumption in pregnant women which are dramatically higher than reported. Therefore, studies investigating the association between prenatal alcohol exposure and ADHD should incorporate the analysis and validation of more objective methods, such as parameters for alcohol degradation.


Assuntos
Consumo de Bebidas Alcoólicas/efeitos adversos , Transtorno do Deficit de Atenção com Hiperatividade/etiologia , Gravidez/fisiologia , Adulto , Consumo de Bebidas Alcoólicas/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/epidemiologia , Transtorno do Deficit de Atenção com Hiperatividade/genética , Transtorno do Deficit de Atenção com Hiperatividade/fisiopatologia , Depressores do Sistema Nervoso Central/efeitos adversos , Criança , Etanol/efeitos adversos , Feminino , Interação Gene-Ambiente , Humanos , Recém-Nascido , Transtornos Relacionados ao Uso de Substâncias/complicações
19.
Anim Genet ; 41(3): 315-8, 2010 Jun.
Artigo em Inglês | MEDLINE | ID: mdl-19968638

RESUMO

Hybridization between wild species and their domestic congeners often threatens the gene pool of the wild species. The last wild Bactrian camel (Camelus ferus) populations in Mongolia and China are examples of populations facing such a hybridization threat. To address this key issue in the conservation of wild camels, we analysed wild, hybrid and domestic Bactrian camels (Camelus bactrianus) originating from Mongolia, China and Austria. Through screening of an 804-base-pair mitochondrial fragment, we identified eight mitochondrial haplotypes and found high sequence divergence (1.9%) between C. ferus and C. bactrianus. On the basis of a mitochondrial DNA sequence fixed difference, we developed a diagnostic PCR restriction fragment length polymorphism (PCR-RFLP) assay to differentiate between wild and domestic camel samples. We applied the assay to 81 individuals and confirmed the origin of all samples including five hybrids with known maternal ancestry. The PCR-RFLP system was effective for both traditional (blood, skin) and non-invasive samples (faeces, hair), as well as for museum specimens. Our results demonstrate high levels of mitochondrial differentiation between wild and domestic Bactrian camels and that maternal hybridization can be detected by a rapid and reliable PCR-RFLP system.


Assuntos
Camelus/genética , Mitocôndrias/genética , Animais , Feminino , Hibridização Genética , Masculino , Reação em Cadeia da Polimerase , Polimorfismo de Fragmento de Restrição
20.
Dev Comp Immunol ; 106: 103614, 2020 05.
Artigo em Inglês | MEDLINE | ID: mdl-31962062

RESUMO

The emergent availability in public databases of more complete genome assemblies allows us to improve genomic data obtained by classical molecular cloning. The main goal of this study was to refine the genomic map of the dromedary TRG locus by integrating our previous genomic data with the analysis of recent genomic assemblies. We identified an additional TRGC cassette, defined as a V-J-C recombination unit, located at the 5' of the locus and made up of five TRGV genes followed by three TRGJ genes and one TRGC gene. Hence, the complete dromedary TRG locus spans about 105 Kb and consists of three in tandem TRGC cassettes delimited by AMPH and STARD3NL genes at the 5' and 3' end, respectively. An expression assay carried out on peripheral blood showed the functional competency for the dromedary TRGC5 cassette and confirmed the presence of the somatic hypermutation mechanism able to enlarge the repertoire diversity of the dromedary γδ T cells.


Assuntos
Camelus/imunologia , Loci Gênicos/genética , Receptores de Antígenos de Linfócitos T gama-delta/genética , Linfócitos T/metabolismo , Animais , Evolução Molecular , Variação Genética , Genoma , Filogenia , Recombinação Genética , Alinhamento de Sequência , Ovinos , Hipermutação Somática de Imunoglobulina
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