41 research outputs found
Fijnstofemissie uit stallen: melkvee = Dust emission from animal houses: dairy cattle
In this study emissions of fine dust (PM10 and PM2.5) from houses for cattle were determined. In addition, emissions of ammonia, greenhouse gases and odour were determined
Emissies van stof en ziektekiemen uit melkgeitenstallen
Emissions of dust, pathogens and gases have been measured in two goat houses. Coxiella burnetii, the bacteria responsible for Q-fever, could be detected in a number of dust samples
Genetic factors in human neural tube defects
Contains fulltext :
145592.pdf (Publisher’s version ) (Open Access)120 p
Genetic factors in human neural tube defects.
Item does not contain fulltextKatholieke Universiteit Nijmegen, 12 mei 1999Promotor : Ropers, H.H. Co-promotor : Mariman, E.C.M.120 p
Localization of Alagille syndrome to 20p11.2-p12 by linkage analysis of a three-generation family
Contains fulltext :
20565___.PDF (publisher's version ) (Open Access
Tall stature and progressive overweight in mitochondrial encephalopathy.
We describe two children carrying an inherited T899C mutation in the mitochondrial ATPase 6 gene with mild encephalopathy and normal postnatal growth followed by tall stature and obesity. No familial tall stature, endocrine anomaly or advanced skeletal age were present. Failure to thrive is a characteristic finding in most patients with a mitochondrial disease. Our observations suggest that children with encephalomyopathy, even in the presence of a significant clinical overgrowth, should be screened for a possible defect in oxidative phosphorylation
[Sudden blindness: consider Leber's hereditary optic neuropathy]
Item does not contain fulltextIn 3 young male patients, aged 10, 19 and 21 years respectively, sequential, severe, painless bilateral visual loss occurred. Ophthalmological examination revealed no other abnormalities and this delayed the diagnosis Leber's hereditary optic neuropathy (LHON). LHON is a mitochondrial genetic disease characterised by bilateral acute or subacute painless loss of central vision. LHON causes blindness, predominantly in young adult males but less frequently in women and children as well. Occasionally, LHON is associated with other neurological and cardiac changes. The first patient recovered his vision within 2 years, but the other 2 remained blind. All 3 patients had a m.11778G > A mutation in the mitochondrial DNA (mtDNA). Over 95% of LHON cases are primarily the result of one of three mitochondrial DNA point mutations. In addition, analysis of patients grouped according to mtDNA mutation has demonstrated differences in both the clinical features of visual failure and in recurrence risks for relatives that are associated with each of the pathogenic mtDNA mutations. Depending on the type of mutation, recovery of vision occurs in 4-58% of the patients. Whilst pathogenic mtDNA mutations are required for the development of LHON, other factors must be responsible for the variable penetrance and male predominance. Familiarity with the clinical spectrum of LHON is necessary for early diagnosis. There is no proven treatment