RESUMO
Mercury is a global pollutant and potent neurotoxic metal. Its most toxic and bioavailable form, methylmercury, can have both lethal and sublethal effects on wildlife. In birds, methylmercury exposure can disrupt behavior, hormones, the neuroendocrine system, and feather integrity. Lipid-rich tissues and secretions may be particularly susceptible to disruption by lipophilic contaminants such as methylmercury. One such substance is feather preen oil, a waxy secretion of the uropygial gland that serves multiple functions including feather maintenance, anti-parasitic defense, and chemical signaling. If methylmercury exposure alters preen oil composition, it could have cascading effects on feather quality, susceptibility to ectoparasites, and mate choice and other social behaviors. We investigated whether exposure to methylmercury, either alone or in association with other stressors, affects preen oil chemical composition. We used a two-factor design to expose adult song sparrows (Melospiza melodia) to an environmentally relevant dietary dose of methylmercury and/or to another stressor (unpredictable food supply) for eight weeks. The wax ester composition of preen oil changed significantly over the 8-week experimental period. This change was more pronounced in the unpredictable food treatment, regardless of dietary methylmercury. Contrary to our prediction, we found no main effect of methylmercury exposure on preen oil composition, nor did methylmercury interact with unpredictable food supply in predicting the magnitude of chemical shifts in preen oil. While it remains critical to study sublethal effects of methylmercury on wildlife, our findings suggest that the wax ester composition of preen oil is robust to environmentally relevant doses of this contaminant.
Assuntos
Poluentes Ambientais/toxicidade , Mercúrio/toxicidade , Aves Canoras , Estresse Fisiológico , Animais , Ésteres , Plumas , Compostos de Metilmercúrio , Passeriformes , Glândulas SebáceasRESUMO
Immune defences often trade off with other life-history components. Within species, optimal allocation to immunity may differ between the sexes or between alternative life-history strategies. White-throated sparrows (Zonotrichia albicollis) are unusual in having two discrete plumage morphs, white-striped and tan-striped. Within each sex, white-striped individuals are more aggressive and provide less parental care than tan-striped individuals. We extended immunocompetence handicap models, which predict sex differences in immunity and parasitism, to hypothesize that infection susceptibility should be greater in white-striped than tan-striped birds. We inoculated birds of both morphs with malarial parasites. Contrary to our prediction, among birds that became infected, parasite loads were higher in tan-striped than white-striped individuals and did not differ between the sexes. Circulating androgen levels did not differ between morphs but were higher in males than females. Our findings are not consistent with androgen-mediated immunosuppression. Instead, morph differences in immunity could reflect social interactions or life-history-related differences in risk of injury, and/or genetic factors. Although plumage and behavioural morphs of white-throated sparrow may differ in disease resistance, these differences do not parallel sex differences that have been reported in animals, and do not appear to be mediated by differences in androgen levels.
Assuntos
Plasmodium/fisiologia , Pardais/fisiologia , Pardais/parasitologia , Agressão , Androgênios/sangue , Animais , Comportamento Animal/fisiologia , Plumas/fisiologia , Feminino , Malária/imunologia , Masculino , Carga Parasitária , Fenótipo , Pigmentação/fisiologia , Caracteres Sexuais , Pardais/imunologiaRESUMO
In songbirds, developmental stress affects song learning and production. Altered hypothalamic-pituitary-adrenal (HPA) axis function resulting in elevated corticosterone (CORT) may contribute to this effect. We examined whether developmental conditions affected the association between adult song and HPA axis function, and whether nutritional stress before and after nutritional independence has distinct effects on song learning and/or vocal performance. Zebra finches (Taeniopygia guttata) were raised in consistently high (HH) or low (LL) food conditions until post-hatch day (PHD) 62, or were switched from high to low conditions (HL) or vice versa (LH) at PHD 34. Song was recorded in adulthood. We assessed the response of CORT to handling during development and to dexamethasone (DEX) and adrenocorticotropic hormone (ACTH) challenges during adulthood. Song learning and vocal performance were not affected by nutritional stress at either developmental stage. Nutritional stress elevated baseline CORT during development. Nutritional stress also increased rate of CORT secretion in birds that experienced stress only in the juvenile phase (HL group). Birds in the LL group had lower CORT levels after injection of ACTH compared to the other groups, however there was no effect of nutritional stress on the response to DEX. Thus, our findings indicate that developmental stress can affect HPA function without concurrently affecting song.
Assuntos
Hormônio Adrenocorticotrópico/farmacologia , Corticosterona/metabolismo , Tentilhões/fisiologia , Sistema Hipotálamo-Hipofisário/metabolismo , Sistema Hipófise-Suprarrenal/metabolismo , Estresse Fisiológico/fisiologia , Vocalização Animal/fisiologia , Hormônio Adrenocorticotrópico/administração & dosagem , Fatores Etários , Fenômenos Fisiológicos da Nutrição Animal/fisiologia , Animais , Dexametasona/administração & dosagem , Dexametasona/farmacologia , Feminino , Glucocorticoides/administração & dosagem , Glucocorticoides/farmacologia , Aprendizagem/fisiologia , Masculino , Distribuição AleatóriaRESUMO
Gonadotropin-releasing hormone 1 (GnRH1) is a key regulator of the reproductive neuroendocrine system in vertebrates. Recent developments have suggested that GnRH1 neurons exhibit far greater plasticity at the cellular and molecular levels than previously thought. Furthermore, there is growing evidence that sub-populations of GnRH1 neurons in the preoptic area are highly responsive to specific environmental and hormonal conditions. In this paper we discuss findings that reveal large variation in GnRH1 mRNA and protein expression that are regulated by social cues, photoperiod, and hormonal feedback. We draw upon studies using histochemistry and immediate early genes (e.g., c-FOS/ZENK) to illustrate that specific groups of GnRH1 neurons are topographically organized. Based on data from diverse vertebrate species, we suggest that GnRH1 expression within individuals is temporally dynamic and this plasticity may be evolutionarily conserved. We suggest that the plasticity observed in other neuropeptide systems (i.e. kisspeptin) may have evolved in a similar manner.
Assuntos
Hormônio Liberador de Gonadotropina/fisiologia , Plasticidade Neuronal/fisiologia , Animais , Aves/fisiologia , Ciclídeos/fisiologia , Cricetinae , Feminino , Hormônio Liberador de Gonadotropina/biossíntese , Hormônio Liberador de Gonadotropina/química , Kisspeptinas/genética , Masculino , Neurônios , Fotoperíodo , Área Pré-Óptica/fisiologia , RNA Mensageiro/metabolismo , Reprodução/fisiologia , Estações do Ano , Ovinos/fisiologia , TerritorialidadeRESUMO
The lipodystrophies are a group of disorders characterized by the absence or reduction of subcutaneous adipose tissue. Partial lipodystrophy (PLD; MIM 151660) is an inherited condition in which a regional (trunk and limbs) loss of fat occurs during the peri-pubertal phase. Additionally, variable degrees of resistance to insulin action, together with a hyperlipidaemic state, may occur and simulate the metabolic features commonly associated with predisposition to atherosclerotic disease. The PLD locus has been mapped to chromosome 1q with no evidence of genetic heterogeneity. We, and others, have refined the location to a 5.3-cM interval between markers D1S305 and D1S1600 (refs 5, 6). Through a positional cloning approach we have identified five different missense mutations in LMNA among ten kindreds and three individuals with PLD. The protein product of LMNA is lamin A/C, which is a component of the nuclear envelope. Heterozygous mutations in LMNA have recently been identified in kindreds with the variant form of muscular dystrophy (MD) known as autosomal dominant Emery-Dreifuss MD (EDMD-AD; ref. 7) and dilated cardiomyopathy and conduction-system disease (CMD1A). As LMNA is ubiquitously expressed, the finding of site-specific amino acid substitutions in PLD, EDMD-AD and CMD1A reveals distinct functional domains of the lamin A/C protein required for the maintenance and integrity of different cell types.
Assuntos
Cromossomos Humanos Par 1 , Lipodistrofia/genética , Proteínas Nucleares/genética , Mutação Puntual , Sequência de Aminoácidos , Substituição de Aminoácidos , Animais , Sequência de Bases , Mapeamento Cromossômico , Feminino , Marcadores Genéticos , Heterozigoto , Humanos , Lamina Tipo A , Laminas , Masculino , Camundongos , Dados de Sequência Molecular , Proteínas Nucleares/química , Linhagem , Ratos , Alinhamento de Sequência , Homologia de Sequência de AminoácidosRESUMO
Migratory animals may trade-off between investing energy in immune defense versus investing in energy reserves needed for seasonal migration. However, these trade-offs are often masked by other sources of variation and may not be detected through observational field studies of free-living animals. Moreover, observational studies can rarely distinguish the costs of pathogenic infection from those of mounting an immune response. To disentangle such effects, we conducted an immune challenge experiment. We captured song sparrows (Melospiza melodia) and white-throated sparrows (Zonotrichia albicollis) in autumn migratory condition, challenged the sparrows with non-infectious antigens that induce an acute-phase immune response, then monitored body composition and migratory restlessness behavior. For both species, body mass was higher the day after exposure to keyhole limpet hemocyanin (KLH) compared to controls. White-throated sparrows, but not song sparrows, increased lean mass 1 week after exposure to lipopolysaccharide (LPS), suggesting that effects of immune upregulation on body composition may be long-lasting and specific to certain combinations of hosts and antigens. White-throated sparrows exposed to KLH increased nocturnal migratory restlessness (Zugunruhe) for the week following exposure. These findings suggest that short-term activation of the acute immune response does not constrain migratory physiology in these songbirds.
Assuntos
Migração Animal , Pardais , Animais , Migração Animal/fisiologia , Composição Corporal/fisiologia , Estações do Ano , Pardais/fisiologiaRESUMO
Migratory animals encounter multiple parasite communities, raising concerns that migration may aid transport of infectious disease. How migration affects disease spread depends fundamentally on how disease affects migration, specifically whether infection alters individuals' migratory physiology and behavior. We inoculated white-throated sparrows (Zonotrichia albicollis) with avian malaria parasites (Plasmodium sp.), monitored parasite loads for 5 wk as the birds reached spring migratory condition, and compared nocturnal migratory restlessness (Zugunruhe), body composition (fat, lean, and whole-body mass), and hematocrit among experimentally infected birds, sham-inoculated birds, and birds that were exposed to parasites but resisted infection. Migratory restlessness increased over time in the study, but the rate of change varied between sham (control) birds, infected birds, and birds that resisted infection. We were unable to detect any effects of malaria exposure on body condition. Our findings suggest that encountering parasites affects migratory activity, regardless of whether infection occurs or is resisted.
Assuntos
Migração Animal/fisiologia , Malária Aviária/fisiopatologia , Pardais/parasitologia , Animais , Composição Corporal , Resistência à Doença , Feminino , Hematócrito , Malária Aviária/sangue , Masculino , Plasmodium/patogenicidade , Estações do AnoRESUMO
Permafrost and methane hydrates are large, climate-sensitive old carbon reservoirs that have the potential to emit large quantities of methane, a potent greenhouse gas, as the Earth continues to warm. We present ice core isotopic measurements of methane (Δ14C, δ13C, and δD) from the last deglaciation, which is a partial analog for modern warming. Our results show that methane emissions from old carbon reservoirs in response to deglacial warming were small (<19 teragrams of methane per year, 95% confidence interval) and argue against similar methane emissions in response to future warming. Our results also indicate that methane emissions from biomass burning in the pre-Industrial Holocene were 22 to 56 teragrams of methane per year (95% confidence interval), which is comparable to today.
RESUMO
The stress response--increases in circulating glucocorticoids following a stressor--is typically considered adaptive, but few studies address the fitness consequences of individual variation in stress response. Generally, due to negative consequences of prolonged elevation of glucocorticoids, animals should have a transient stress response just sufficient to cope with the stressor. In rodents, stress responsiveness is affected by early developmental experience, and hyper-responsiveness to stress is linked to morbidity and mortality. We assessed individual variation in stress responses in free-living song sparrows, Melospiza melodia, in relation to fitness-related measures including song and overwinter survival. Birds with greater increases in corticosterone 30 min following restraint stress were less likely to return to breed the following year. Stress responsiveness was also correlated with song complexity: males with fewer syllables in their song repertoires had greater stress reactivity. Our findings support the hypothesis that developmental stressors both impair song development and affect the adult stress response. Thus, individual variation in the stress response may relate to variation in fitness.
Assuntos
Corticosterona/sangue , Pardais/fisiologia , Estresse Fisiológico , Vocalização Animal , Animais , Masculino , Estações do Ano , Estresse PsicológicoRESUMO
Reference to glucocorticoids as "stress hormones" has been growing in prevalence in the literature, including in comparative and environmental endocrinology. Although glucocorticoids are elevated in response to a variety of stressors in vertebrate animals, the primary functions of glucocorticoids are not responding to stressors and they are only one component of complex suite of physiological and behavioral responses to stressors. Thus, the use of the short-hand phrase "stress hormone" can be misleading. Further, simply measuring glucocorticoids is not equivalent to measuring a stress response, nor is manipulating glucocorticoids equivalent to exposing an animal to a stressor. In this commentary we highlight the problems with using functional names for hormones, and of treating cortisol or corticosterone as synonymous with stress. We provide recommendations to add clarity to the presentation of research on this topic, and to avoid conflation of glucocorticoids with stressors and the stress response in the design of experiments.
Los Glucocorticoides y el "Estrés" no Son Sinónimos (Glucocorticoids and "Stress" Are Not Synonymous) La referencia a los glucocorticoides como "hormonas del estrés" ha aumentado en prevalencia en la literatura, incluso en endocrinología comparativa y ecológica. Aunque los glucocorticoides están elevados en respuesta a una variedad de factores de estrés en animales vertebrados, las funciones primarias de los glucocorticoides no responden a los factores de estrés y son solo un componente de un conjunto complejo de respuestas fisiológicas y de comportamiento a los factores de estrés. Por lo tanto, el uso de la frase abreviada "hormona del estrés" puede ser engañoso. Además, simplemente medir glucocorticoides no es equivalente a medir una respuesta al estrés, ni manipular glucocorticoides equivalente a exponer a un animal a un factor estresante. En este comentario destacamos los problemas con el uso de nombres funcionales para las hormonas y con el tratamiento del cortisol o la corticosterona como sinónimo de estrés. Brindamos recomendaciones para agregar claridad a la presentación de investigaciones sobre este tema y para evitar la combinación de glucocorticoides con factores estresantes y la respuesta al estrés en el diseño de los experimentos. Translated to Spanish by J. Heras (herasj01@gmail.com).
Glucocorticóides e "Stress" Não São Sinônimos (Glucocorticoids and "Stress" Are Not Synonymous) A referência aos glicocorticóides como "hormônios do estresse" vem se tornando prevalente em literatura, inclusive na endocrinologia comparada e ecológica. Embora os glicocorticóides sejam elevados em resposta a uma variedade de estressores em vertebrados, as funções primárias de glicocorticóides são a de não responder aos causadores do stress e eles são apenas um componente dentro de um complexo conjunto de respostas fisiológicas e comportamentais aos estressores. Assim, o uso da frase curta "hormônio do estresse" pode ser errôneo. Além disso, simplesmente medir glicocorticóides não é equivalente a medir uma resposta ao estresse, nem a manipulação de glicocorticoides é equivalente a expor um animal a um estressor. Neste comentário, destacamos os problemas com o uso de nomes funcionais para hormônios e o tratamento de cortisol ou corticosterona como sinônimos de estresse. Nós provemos recomendações para adicionar clareza à apresentação de pesquisas deste tópico e para evitar a o tratamento direto de glicocorticoides como estressores e a resposta ao estresse no planejamento de experimentos. Translated to Portuguese by Diego Vaz (dbistonvaz@vims.edu).
RESUMO
Songbirds exhibit some of the most extreme sex differences in the brain of all vertebrates. Understanding the function of these sex differences has relied on making interspecies comparisons. In some species, females sing rarely or not at all, and the brain nuclei that control song are many times larger in volume in males than in females. In other species, males and females sing approximately equally, and the sizes of the brain nuclei that control song are approximately equal between the sexes. This article reviews sex differences in the song-control system of songbirds, and introduces statistical comparative methods developed by evolutionary biologists. These methods control for phylogenetic effects while comparing the co-evolution of traits. The extreme sex differences in song seem to have co-evolved with the extreme sex differences in singing behavior in songbird species.
Assuntos
Encéfalo/fisiologia , Caracteres Sexuais , Aves Canoras/fisiologia , Vocalização Animal/fisiologia , Animais , Feminino , MasculinoRESUMO
Missense mutations of the lamin A/C gene, LMNA, have been recently identified in Dunnigan-type familial partial lipodystrophy (FPLD), which belongs to a heterogeneous group of rare disorders affecting adipose tissue distribution and metabolism. In this study, we sequenced the LMNA coding region from patients presenting with FPLD or other forms of lipodystrophy. We identified two heterozygous mutations in exon 8, R482W and R482Q, in FPLD patients (six families and one individual) with various clinical presentations. In addition, we found a novel heterozygous mutation (R584H) in exon 11, encoding specifically the lamin A isoform, in a patient with typical FPLD. Clinical and biochemical investigations in FPLD patients revealed that the expression and the severity of the phenotype were markedly dependent on sex, with female patients being more markedly affected. In subjects with generalized lipoatrophy, either congenital (13 case subjects) or acquired (14 case subjects), or Barraquer-Simon syndrome (2 case subjects), the entire LMNA coding sequence was normal. Although FPLD mutations are predominantly localized in exon 8 of LMNA, the finding of a novel mutation at codon 584, together with the R582H heterozygous substitution recently described, confirms that the C-terminal region specific to the lamin A isoform is a second susceptibility region for mutations in FPLD.
Assuntos
Tecido Adiposo/patologia , Lipodistrofia/genética , Mutação , Proteínas Nucleares/genética , Caracteres Sexuais , Adolescente , Adulto , Atrofia , Criança , Códon , Consanguinidade , Éxons , Feminino , Heterozigoto , Humanos , Lamina Tipo A , Laminas , Masculino , Pessoa de Meia-Idade , LinhagemRESUMO
Bird song often varies geographically within a species; when this geographic variation has distinct boundaries, the shared song types are referred to as song dialects. How dialects are produced and their adaptive significance are longstanding problems in biology, with implications for the role of culture in the evolution and ecology of diverse organisms, including humans. Here we test the hypothesis that song dialect, a culturally transmitted trait, is related to the population genetic structure of mountain white-crowned sparrows (Zonotrichia leucophrys oriantha). To address this, we compared microsatellite allele frequencies from 18 sample sites representing eight dialect regions in the Sierra Nevada. Pairwise genetic distances were not significantly correlated with geographic distances either within or between dialects, nor did dialect groups form distinct genetic groups according to neighbor-joining or UPGMA analysis, and most variation in allele frequencies occurred among individuals rather than at higher levels. However, most of the remaining variation was attributable to differences among, rather than within, dialect regions, and this among-dialect component of variance was statistically significant. Moreover, when controlling for the effect of geographic distance, song dissimilarity and genetic distance between site pairs were significantly correlated. Thus, song dialects appear to be associated with reductions in, but not strict barriers to, gene flow among dialect regions.
Assuntos
Evolução Biológica , Aves Canoras/genética , Vocalização Animal , Animais , Análise por Conglomerados , Cultura , Geografia , Idioma , Filogenia , População , Aves Canoras/classificação , Aves Canoras/fisiologiaRESUMO
About 25 years ago, Nottebohm and Arnold reported that there are profound male-biased sex differences in volume in selected nuclei in telencephalic portions of the song control system. This review focuses on issues related to the cellular bases of these sex differences in volume and comparative studies that might elucidate the function of this variation between the sexes. Studies utilizing a variety of neurohistological methods in several different species to define the boundaries of two key telencephalic song nuclei HVc and the robust nucleus of the archistriatum (RA) all tend to find a sex difference in volume in agreement with Nissl-defined boundaries. Sex differences in volume in nuclei such as HVc and RA are associated with differences in cell size and cell number. Other attributes of the phenotype of cells in these nuclei are also different in males and females such as the number of cells expressing androgen receptors. Comparative studies have been employed to understand the function of these sex differences in the brain. In some songbird species, females sing rarely or not at all, and the brain nuclei that control song are many times larger volume in males than females. In other species, males and females sing approximately equally, and the brain nuclei that control song are approximately equal between the sexes. Recently, statistical methods have been employed to control for phylogenetic effects while comparing the co-evolution of traits. This analysis indicates that the evolution of sex differences in song has co-evolved with the evolution of sex differences in singing behavior in songbird species. Future studies should focus on the function of the smaller song control nuclei of females and investigate the role these nuclei might play in perception as well as in production.
Assuntos
Encéfalo/fisiologia , Caracteres Sexuais , Aves Canoras/fisiologia , Vocalização Animal/fisiologia , Animais , Encéfalo/citologia , Feminino , Masculino , Aves Canoras/anatomia & histologiaRESUMO
We examined the neural bases of song preferences in female zebra finches (Taeniopygia guttata). Females performed more courtship displays in response to conspecific songs than to heterospecific songs. Following electrolytic lesion to the HVc (sometimes referred to as high vocal center), females maintained normal song preferences. However, following lesion to cHV (caudal hyperstriatum ventrale, an auditory area) females performed courtship displays at high rates in response to both conspecific and heterospecific song. Thus cHV, but not HVc, must be intact for female zebra finches to exhibit normal song preferences. Differences between this study and those showing HVc lesions disrupting song preferences in female canaries (Serinus canaria) indicate interspecific variation in the function of HVc in female songbirds.
Assuntos
Vocalização Animal/fisiologia , Estimulação Acústica/métodos , Análise de Variância , Animais , Comportamento Animal/fisiologia , Encéfalo/fisiologia , Mapeamento Encefálico/métodos , Corte , Implantes de Medicamento , Estradiol/administração & dosagem , Estradiol/farmacologia , Feminino , Aves Canoras , Técnicas Estereotáxicas , Telencéfalo/patologia , Telencéfalo/fisiologia , Telencéfalo/cirurgiaRESUMO
Three experiments examined the capacity of European starlings to segregate perceptually 2 superimposed, intermixed auditory stimuli. The stimuli were 10-s song samples from 2 of 4 songbird species: European starling, brown thrasher, mockingbird, and nightingale. The birds first learned a discrimination between the intermixed song pairs. Then, they maintained the discrimination with novel song exemplars in the mixtures and when song stimuli for each species were presented alone. Performance fell, but remained above chance, when song pairs were mixed with the dawn chorus of bird song. The results show that starlings were identifying the songs of individual species within the baseline superimposed song pairs, a process of auditory stream segregation and scene analysis (A. S. Bregman, 1990).
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Aves , Vocalização Animal , Estimulação Acústica , Animais , Comportamento Animal , Masculino , Espectrografia do SomRESUMO
Past studies have shown that formaldehyde is mutagenic in microbial tests and Drosophila and causes chromosomal aberrations in cultured mammalian cells. Chromosomal analysis of bone marrow cells and spermatocytes from exposed laboratory animals has failed to show any genotoxic effect. Information on individuals occupationally exposed is limited and there is no evidence to date that formaldehyde can induce chromosome damage at occupational levels of exposure. This study examines the chromosome aberration and sister-chromatid exchange frequencies in lymphocytes from a group of 6 pathology workers and 5 unexposed controls. No detectable differences could be found between the groups in either chromosomal aberration induction or sister-chromatid exchange frequencies.
Assuntos
Aberrações Cromossômicas , Formaldeído/toxicidade , Doenças Profissionais/induzido quimicamente , Troca de Cromátide Irmã/efeitos dos fármacos , Células Cultivadas , Exposição Ambiental , Humanos , Serviço Hospitalar de PatologiaAssuntos
Lipoproteínas/genética , Proteínas de Membrana/genética , Metaloproteases/genética , Proteínas Nucleares/metabolismo , Progéria/diagnóstico , Progéria/genética , Precursores de Proteínas/metabolismo , Núcleo Celular/ultraestrutura , Pré-Escolar , Análise Mutacional de DNA , Feminino , Heterozigoto , Humanos , Lamina Tipo A , Metaloendopeptidases , Fenótipo , Progéria/ultraestruturaRESUMO
BACKGROUND: Hutchinson-Gilford progeria syndrome (HGPS) is a rare premature ageing disorder that belongs to a group of conditions called laminopathies which affect nuclear lamins. Classical and atypical forms of HGPS have been reported and there are clinical overlaps with mandibulo-acral dysplasia and restrictive dermopathy. To date, mutations in two genes, LMNA and ZMPSTE24, have been found in patients with HGPS. The p.G608G LMNA mutation is the most commonly reported mutation. Correlations between genotype and phenotype in children with progeroid syndromes are beginning to emerge. OBJECTIVES: To establish whether the LMNA p.G608G mutation is associated with a particular phenotype of HGPS. METHODS: We reviewed the clinical features and skin histology of three children with HGPS associated with the p.G608G LMNA mutation, and compared our findings with those reported in the literature. RESULTS: Our patients shared a very similar presentation and clinical course. Skin changes were the earliest finding in all three. Skin histology showed nonspecific changes only. CONCLUSIONS: The LMNA p.G608G mutation results in a uniform phenotype through early to mid-childhood, in keeping with that described in classical HGPS. Skin changes are the earliest distinctive clinical finding and should prompt careful physical and radiological examination for other features of HGPS. Skin biopsy for histology is not a useful investigation when a diagnosis of HGPS is suspected.
Assuntos
Doenças Cardiovasculares/genética , Lamina Tipo A/genética , Mutação/genética , Progéria/diagnóstico , Criança , Pré-Escolar , Fácies , Feminino , Humanos , Lactente , Lamina Tipo A/análise , Progéria/genética , Progéria/psicologiaRESUMO
This report forms a background paper for a World Health Organization document on "Assessment of the role of lifestyles in influencing workers' health risks". It identifies occupational and non-occupational factors which contribute to occupational mortality and morbidity. Eight categories of mortality and morbidity are identified as priorities for discussion, based on UK data. These are cardiovascular disease; lung cancer; chronic obstructive pulmonary disease; occupational deafness; dermatitis; vibration white finger; tenosynovitis; and suicide. Non-occupational factors associated with these include age, sex, race, smoking, social class, alcohol consumption, diet, exposures in leisure time, exercise, atopy, heredity, personal hygiene, personality type, stress, past or predisposing illness or injury, weather/climate and air pollution. Smoking is identified as the most widely studied non-occupational factor in occupational disease. Smoking interacts with some occupational exposures to produce more disease than the sum of both agents separately. Smoking and asbestos interact multiplicatively in lung cancer causation. The ability to quantify interactions between occupational and non-occupational factors in disease etiology is important in assessing priorities for preventive action. Despite this, only the interactions of smoking have begun to be defined. The many other non-occupational factors mentioned above have each been studied individually but their interactions with occupational factors have not been assessed. This report describes models of quantifying interactions and recommends that further work is carried out to assess the interactions of non-occupational factors other than smoking in disease causation.