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Biomedical subjects

H Keutgen

Publications and source records attributed to H Keutgen.

4 recordsLinked to original sources
PubMed2001

Microphthalmia, facial anomalies, microcephaly, thumb and hallux hypoplasia, and agammaglobulinemia.

We report a boy, born to consanguineous patients, with agammaglobulinemia associated with multiple physical anomalies: mild intrauterine growth retardation, extreme microphthalmia (clinical anophthalmia), severe microcephaly, blepharophimosis, long face with temporal narrowing, scaphocephalic skull shape, posterior cleft palate, hypoplastic, adducted thumbs with small nails, and short, inward turned halluces with absent distal phalanges and nails. Psychomotor development was moderately delayed. No mutations were found in exons of BKT and PAX-5 genes. This unreported constellation could represent a novel, autosomal recessive syndrome.

Abnormalities, Multiple↗
PubMed1999

[Pompe disease or type 2 glycogenosis].

We report the case of a rapidly progressing respiratory failure of a three-month old infant, who shows a cardiomyopathy with left ventricule hypertrophy leading to a Pompe's disease diagnosis. This type 2 glycogenosis will be confirmed by the enzymatic study of the hepatocytes. It is a genetic pathology associated with a deficient activity of the acid maltase resulting in a intralysosomial accumulation of glycogen. The most generally responsible mutations are: delta 18 et delta 525. Prognosis is quite bad with a progressive deterioration of the heart, brain and muscular functions causing death at around 4 to 8 months. Type 2 glycogenosis may be diagnosed before birth through enzymatic study of a material collected through an amniocentesis or a biopsy on chorionic villi, and through DNA analysis. Curative treatment is still under study, but two main research orientations are being developed: genic therapy using viral vector and the correction of the enzymatic deficiency thanks to the synthesis of alpha glucosidase modified to specially get affixed to the heart and muscular cells. Both techniques have already show some encouraging results even though the clinical applications are not presently valid yet.

Female↗
PubMed1999

[Pathologic-anatomic investigations in laying hens in various housing systems].

Gross pathologic and histologic changes were investigated in a total of 1000 end-of-lay hens. Thirty animals were drawn from free range stocks, 270 from deep litter stocks, and 700 from caging systems. The following changes were evaluated with regards to housing systems: Pododermatitis, deformation of the keel bone and amputated beaks occurred primarily in free range hens. Deep litter hens also suffered from pododermatitis, keel bone deformation and amputated beaks in addition to pecking wounds. In caged hens severe fatty liver syndromes, injuries of the claws and inflammation of the feather follicles were mainly found. Furthermore, injuries and fractures due to handling and transport were almost exclusively found in caged hens. It has to be concluded that all of the investigated housing systems can predisposed hens to certain lesions. The documented changes--e.g. chronic inflammation, skelettal deformities and injuries--are painful and may lead to permanent alterations. Therefore, these changes should be condemned as conflicting with animal protection regulations.

Animals↗