Prenatal diagnosis of de novo (7;19)(q11.2;q13.3) translocation associated with a thick corpus callosum and Wilms tumor of the kidneys

We present a case of prenatal diagnosis of a de novo (7;19)(q11.2;q13.3) translocation associated with ultrasound features, including enlarged cisterna magna, normal vermis, thick corpus callosum, micrognathia, small and low-set ears and right hyperechogenic kidney. Karyotyping was performed at 24 weeks of gestation. Termination of pregnancy was accepted at the parents' request. Postmortem examination confirmed the prenatal findings, but revealed bilateral Wilms tumors of the kidneys. Parental karyotype was normal. Copyright © 2005 John Wiley & Sons, Ltd.     

Biotransformation of metamitron by human p450 expressed in transgenic tobacco cell cultures

In the present investigation, the oxidative metabolism of 14C-labeled metamitron was examined in plant cell cultures of tobacco overexpressing human P450 enzymes CYP1A1 or CYP1A2; special interest was in the aromatic hydroxylation of the herbicide. The oxidative metabolites deaminometamitron (DAM) and 4-hydroxydeaminometamitron (4-HDAM) were found in the untransformed control culture as well as in the transgenic culture. The transgenic cultures, however, exhibited higher turnover rates after 48 h of incubation with 20 microg 14C-metamitron per assay (untransformed: 40%, CYP1A1: 80%, CYP1A2: 100%). Primary metabolite 4-HDAM was partially found in glucosylated form in the transgenic cultures. As minor oxidative metabolites, 6-hydroxyphenyl-3-methoxymethyl-1,2,4-triazine-5(4H)-one and 3-hydroxymethyl-6-phenyl-1,2,4-triazine-5(4H)-one were identified in the transgenic cultures by GC-MS, LC-MS. Additionally, it could be demonstrated that both foreign enzymes (CYP1A1, CYP1A2) also catalyzed the deamination of metamitron. In a large-scale study (up to 400 microg per assay) with the transgenic culture expressing CYP1A2, the high efficiency of this P450 system toward metamitron was demonstrated: turnover of the xenobiotic was almost complete with 400 microg. Since large portions of unglucosylated 4-H-DAM were found, the activity of foreign CYP1A2 apparently exceeded that of endogenous O-glucosyltransferases of the tobacco cell culture. We concluded that in comparison to the nontransformed cell culture, the extent of metabolism was considerably higher in the transgenic cultures. The transgenic cell cultures expressing human CYP1A1 or CYP1A2 are thus suitable tools for the production of large quantities of primary oxidized metabolites of metamitron.     

Evaluating knowledge integration and co-production in a 2-year collaborative learning process with smallholder dairy farmer groups

Although knowledge integration and co-production are integral to transdisciplinary approaches to foster sustainable change in social–ecological systems, this type of research is usually not evaluated based on assessments of the learning process. While participants are meant to be central in such approaches, too often, their perspectives are not central to the evaluation. Moreover, there is limited empirical information about how new knowledge is transformed into action. We respond to these knowledge gaps by analyzing (A) farmers’ perspectives on the collaborative learning process and (B) how farmers’ new knowledge can serve as the basis for changed actions. Theoretically, we are guided by second-order cybernetics and have integrated the Control Loop Model with Learning Loops to extend Kirkpatrick (Evaluating training programs: the four levels, 2nd edn. Berrett-Koehler Publisher, San Francisco, 1998) four-level evaluation scheme. We apply this to evaluate a 2-year collaborative learning process with two smallholder dairy farmer groups in Nakuru County, Kenya that aimed to co-develop local sustainable pathways to reduce milk losses. Results showed that farmers learned by (1) implementing corrective actions based on known cause–effect relations (single-loop learning); (2) discovering new cause–effect relations and testing their effect (double-loop learning); and (3) further questioning and changing their aims (triple-loop learning). Highlighting the importance of knowledge integration and co-production, this collaboration between farmers, researchers, and field assistants improved the farmers’ ability to respond, adapt, and intentionally transform their farming system in relation with complex sustainability challenges. Results demonstrate that the potential of our evaluation scheme to better reflect learning and empowerment experienced by actors involved in transdisciplinary research for sustainability.     

Indigenous ecological knowledge of Borana pastoralists in southern Ethiopia and current challenges

Indigenous ecological knowledge (IEK) of Borana pastoralists on strategies of sustainable resource utilization, forage species, ecological interactions, rangeland condition and trend was documented using discussions, a semi-structured questionnaire survey and analytical workshops. Traditional strategies of rangeland and water management were described and the most important forage species identified. Pastoralists' perceptions were compared across age, gender and site. There was a positive correlation between pastoralists' preference ranking of forage species and crude protein content of the species. IEK of men and women was complementary. The process of rangeland degradation was described as shortage of grass and decrease in density and frequency of highly palatable grass species, leading to low milk production and reduced conception rates in cows. The results confirmed that the IEK of these pastoralists could still provide the basis for sustainable resource utilization and rangeland rehabilitation. However, the young generation in the area had not only limited knowledge but also showed less interest to learn and apply the traditional resource management strategies. Therefore, there is high need to perpetuate, document and use this IEK for sustainable development. On the other hand, shortage of forage resources as a result of rangeland shrinkage (leading to rangeland degradation and woody plants encroachment), less application of IEK, the gap between traditional and formal systems, and trends of disobeying traditional rules and regulations were identified as current challenges for the Borana pastoralists.     

Characterisation of cysteine proteinase activities in the digestive tract of juvenile <Emphasis Type="Italic">Paragnathia formica</Emphasis> isopods,ectoparasites of estuarine fish

Juveniles of Paragnathia formica Hesse (Isopoda; Gnathiidae) are haematophagous ectoparasites, feeding on fish blood which supplies the nutrients for their development through growth and moulting, and the subsequent survival and reproduction of the free-living adults. Little is known of the mechanisms of digestion in juvenile gnathiids, and biochemical studies on the digestive tract of these interesting estuarine isopods have not been undertaken previously. Here, functionally active cathepsin-like cysteine proteinases are identified in the digestive system of juvenile praniza (fed) and zuphea (unfed) forms. The physiological pH of the digestive tract and the optimum proteolytic activities detected in praniza 3 homogenates using the cathepsin B/L, cathepsin B, and cathepsin H fluorogenic substrates, N-Carbobenzoxy-Phe-Arg-4-methoxy-2-naphthylamine (Z-phe-arg-MNA), N-Carbobenzoxy-Arg-Arg-4-methoxy-2-naphthylamine (Z-arg-arg-MNA) and Arg-4-methoxy-2-naphthylamine (H-arg-MNA), respectively, are in the acidic range (pH 5.8–6.7). Inhibition profiles against Z-phe-arg-MNA and Z-arg-arg-MNA using the cathepsin B inactivator urea, and cysteine proteinase inhibitors, support the presence of cathepsin L- and B-like enzymes. These proteolytic activities are 10–50 times higher in homogenates of praniza 3 compared with zuphea 3 forms. Histochemistry of praniza 3 sections reveals that the predominant enzyme activity towards Z-phe-arg-MNA is limited to the digestive glands during early and mid stages of digestion; later, this activity appears in the lining of the anterior hindgut. Moreover, activity towards Z-arg-arg-MNA is generally restricted to the digestive glands, and only occasionally present in the anterior hindgut. In conclusion, the digestive glands are the main site of cathepsin-like cysteine proteinase activities in P. formica juveniles; these enzymes appear to be important to the digestion of host fish blood enabling development through to the free-living adult.