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1.
Arch Pediatr ; 21(7): 765-7, 2014 Jul.
Artigo em Francês | MEDLINE | ID: mdl-24935455

RESUMO

We report the cases of two sisters born of parents who were first-degree cousins, who started recurrent fever with lymph node and digestive tract involvement at the age of 2 years. There was no mutation of the familial Mediterranean fever gene and a diagnosis of partial mevalonate kinase (MVK) deficiency was made. However, immunoglobulin (Ig) D and A levels were normal. Elevated mevalonic acid in the patients' urine during an episode and MVK gene analysis provided the diagnosis. Clinical remission was obtained under anti-TNF-alpha treatment with etanercept. These observations and those of several previously reported patients, particularly in French and Dutch series, illustrate the importance of considering the diagnosis in a child with early-onset auto-inflammatory syndrome even in the absence of hyper-IgD or -IgA.


Assuntos
Deficiência de Mevalonato Quinase/diagnóstico , Pré-Escolar , Consanguinidade , Feminino , Humanos , Deficiência de Mevalonato Quinase/genética , Mutação , Fosfotransferases (Aceptor do Grupo Álcool)/deficiência , Fosfotransferases (Aceptor do Grupo Álcool)/genética , Irmãos
2.
Animal ; 2(8): 1247-53, 2008 Aug.
Artigo em Inglês | MEDLINE | ID: mdl-22443738

RESUMO

In order to contribute to the improvement of the national greenhouse gas emission inventory, this work aimed at estimating a country-specific enteric methane (CH4) emission factor for the Italian Mediterranean buffalo. For this purpose, national agriculture statistics, and information on animal production and farming conditions were analysed, and the emission factor was estimated using the Tier 2 model of the Intergovernmental Panel on Climate Change. Country-specific CH4 emission factors for buffalo cows (630 kg body weight, BW) and other buffalo (313 kg BW) categories were estimated for the period 1990-2004. In 2004, the estimated enteric CH4 emission factor for the buffalo cows was 73 kg/head per year, whereas that for other buffalo categories it was 56 kg/head per year. Research in order to determine specific CH4 conversion rates at the predominant production system is suggested.

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