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1.
ISME J ; 16(1): 221-232, 2022 01.
Artigo em Inglês | MEDLINE | ID: mdl-34294882

RESUMO

The novel extremophilic yeast Rhodotorula frigidialcoholis, formerly R. JG1b, was isolated from ice-cemented permafrost in University Valley (Antarctic), one of coldest and driest environments on Earth. Phenotypic and phylogenetic analyses classified R. frigidialcoholis as a novel species. To characterize its cold-adaptive strategies, we performed mRNA and sRNA transcriptomic analyses, phenotypic profiling, and assessed ethanol production at 0 and 23 °C. Downregulation of the ETC and citrate cycle genes, overexpression of fermentation and pentose phosphate pathways genes, growth without reduction of tetrazolium dye, and our discovery of ethanol production at 0 °C indicate that R. frigidialcoholis induces a metabolic switch from respiration to ethanol fermentation as adaptation in Antarctic permafrost. This is the first report of microbial ethanol fermentation utilized as the major energy pathway in response to cold and the coldest temperature reported for natural ethanol production. R. frigidialcoholis increased its diversity and abundance of sRNAs when grown at 0 versus 23 °C. This was consistent with increase in transcription of Dicer, a key protein for sRNA processing. Our results strongly imply that post-transcriptional regulation of gene expression and mRNA silencing may be a novel evolutionary fungal adaptation in the cryosphere.


Assuntos
Adaptação Fisiológica , Temperatura Baixa , Adaptação Fisiológica/genética , Regiões Antárticas , Metabolismo Energético , Humanos , Filogenia , RNA
2.
Clin Genet ; 70(1): 34-8, 2006 Jul.
Artigo em Inglês | MEDLINE | ID: mdl-16813601

RESUMO

Mutations in the EIF2AK3 gene have been identified in patients with Wolcott-Rallison syndrome - a rare autosomal recessive disorder associated with permanent neonatal insulin-dependent diabetes. Despite the fact that different mutations have been observed in every single unrelated case reported so far, most patients presented with similar characteristics, such as osteopenia, epiphyseal dysplasia as well as hepatic and/or renal dysfunction. The EIF2AK3 gene was analyzed using a PCR-based sequencing approach in two Wolcott-Rallison patients and their parents. We report two cases from different families carrying the same and novel truncating nonsense mutation in the EIF2AK3 gene that encodes the pancreatic eukaryotic initiation factor 2alpha kinase 3. This mutation clearly displays different clinical characteristics in the two patients we examined. Remarkably, the onset of diabetes was different for the two patients, and there was also heterogeneity in other clinical manifestations. These cases illustrate the important role of alternative pathways that could, to some extent, take over or supplement a defective metabolic pathway. This supports the idea that there is no simple relationship among clinical manifestations and EIF2AK3 mutations.


Assuntos
Códon sem Sentido , Diabetes Mellitus Tipo 1/enzimologia , Diabetes Mellitus Tipo 1/genética , Osteocondrodisplasias/enzimologia , Osteocondrodisplasias/genética , eIF-2 Quinase/genética , Sequência de Aminoácidos , Sequência de Bases , Criança , Pré-Escolar , DNA/genética , Éxons , Feminino , Genes Recessivos , Transtornos do Crescimento/enzimologia , Transtornos do Crescimento/genética , Humanos , Recém-Nascido , Masculino , Fenótipo , Síndrome
3.
Rev Epidemiol Sante Publique ; 50(5): 453-61, 2002 Oct.
Artigo em Francês | MEDLINE | ID: mdl-12471338

RESUMO

OBJECTIVE: As the mean age of the penitential population rises and the duration of imprisonment grows longer, health services are confronted with the problem of prisoners dependent for daily life activities. The purpose of this study was to determine the number of prisoners dependent for daily life activities and quantify their dependency on human and material support. METHODS: A survey was conducted in the summer of 2,000 in the western region of France (19 prisons in the following regions: Pays-de-Loire, Brittany, Lower Normandy). RESULTS: Among the 4,168 persons incarcerated in these regions, 32 dependent prisoners were identified: 21 men (mean age 57 years) and 11 women (mean age 48 years). Among these persons, 19 suffered from major or moderate dependence (GIR 1-4). The main problems involved toilet facilities, dressing, transfers, and moving about. When human support was available, it was generally provided by other prisoners. Material help was scarce. DISCUSSION: The questions of prisoner's rights, human assistance, the status of caregivers, and the need for adapted architectural, material, and medical facilities are discussed. The information collected here provides a better knowledge of prisoners' needs for support and for changes which would be necessary in the prison environment.


Assuntos
Atividades Cotidianas , Prisioneiros/estatística & dados numéricos , Adulto , Distribuição por Idade , Feminino , França , Inquéritos Epidemiológicos , Humanos , Masculino , Avaliação das Necessidades , Assistência Pública , Apoio Social , Inquéritos e Questionários , Fatores de Tempo
5.
Arch Pathol Lab Med ; 112(12): 1242-50, 1988 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-3263846

RESUMO

Some cases of idiopathic thrombocytopenic purpura (ITP) may be related to the prodromal phase of the acquired immunodeficiency syndrome (AIDS). The morphologic features of six spleens removed in this context were studied. In the white pulp, lymphoid follicular hyperplasia was constant but hardly distinguishable from that of control ITP on routine light microscopic grounds. Moreover, its bland appearance contrasted with the major histopathologic changes usually described in lymph node biopsy specimens from patients with AIDS-related complex. Immunohistochemistry and electron microscopy demonstrated, respectively, an excess of cytotoxic-suppressor lymphocytes with a decreased CD4/CD8 ratio in the germinal centers and viral particles of the human immunodeficiency virus. The immunohistochemical and ultrastructural studies were more helpful than light microscopy in presenting histopathologic arguments in favor of the human immunodeficiency virus infection.


Assuntos
Complexo Relacionado com a AIDS/patologia , Síndrome da Imunodeficiência Adquirida/complicações , Púrpura Trombocitopênica/patologia , Baço/patologia , Complexo Relacionado com a AIDS/complicações , Adulto , Linfócitos B/patologia , Humanos , Imuno-Histoquímica , Contagem de Leucócitos , Linfonodos/patologia , Masculino , Microscopia Eletrônica , Tamanho do Órgão , Púrpura Trombocitopênica/complicações , Baço/ultraestrutura , Linfócitos T/classificação , Linfócitos T/patologia
6.
Gastroenterol Clin Biol ; 11(4): 288-92, 1987 Apr.
Artigo em Francês | MEDLINE | ID: mdl-3582884

RESUMO

This clinical and biological study was undertaken to assess the prevalence of infection by HIV, HBV and HDV in male drug abusers entering a prison. One hundred and thirteen drug users accepted to be tested: 14 (12 p. 100) were homosexual; 12 (11 p. 100) consumed more than 80 g per day of alcohol. The mean duration of drug addiction was 5 +/- 2.9 years; 50 (44 p. 100) declared having used a personal syringe while 63 (56 p. 100) usually shared their syringe. Serum activity of transaminases higher than twice the normal value was noted in 36 cases (32 p. 100). One hundred and two (90 p. 100) drug abusers had a HBV marker, 17 (15 p. 100) were HBs Ag carriers, 9 had anti-HBc antibody alone. The prevalence of antibodies to the HDV was 23 p. 100 and was higher among the HBs Ag carriers (65 p. 100). There were no cases of AIDS. Clinical examination showed lymphadenopathy in 49 cases (43 p. 100), a weight loss of more than 10 p. 100 in 47 cases (42 p. 100), and in 69 cases (61 p. 100), HIV positive serology, confirmed by Western blot. The duration of drug addiction was longer in the 102 drug users with HBV markers. Long duration of drug abuse and the use of a shared syringe increased the risk of HIV infection. No relation was noted between the presence of HBV markers and HIV positive serology. In this population the prevalence of HIV, HDV markers and HIV infection was high, but no relation with the duration of previous incarceration or homosexuality was found.(ABSTRACT TRUNCATED AT 250 WORDS)


Assuntos
Síndrome da Imunodeficiência Adquirida/epidemiologia , Hepatite B/epidemiologia , Prisioneiros , Transtornos Relacionados ao Uso de Substâncias/complicações , Adulto , Cocaína , Ensaio de Imunoadsorção Enzimática , França , Dependência de Heroína/complicações , Humanos , Masculino , Estudos Prospectivos , Risco , Transtornos Relacionados ao Uso de Substâncias/imunologia
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