Objective. To investigate the prevalence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent with TRAPS.Methods. Mutational screening was performed in affected members of 18 families in which multiple members had symptoms compatible with TRAPS and in 176 consecutive subjects with sporadic (nonfamilial) "TRAPS-like" symptoms. Plasma concentrations of soluble tumor necrosis factor receptor superfamily 1A (sTNFRSF1A) were measured, and fluorescenceactivated cell sorter analysis was used to measure TNFRSF1A shedding from monocytes.Results. Eight novel and 3 previously reported TNFRSF1A missense mutations were identified, including an amino acid deletion (⌬D42) in a Northern Irish family and a C70S mutation in a Japanese family, both reported for the first time. Only 3 TNFRSF1A variants were found in patients with sporadic TRAPS (4 of 176 patients). Evidence for nonallelic heterogeneity in TRAPS-like conditions was found: 3 members of the "prototype familial Hibernian fever" family did not possess C33Y, present in 9 other affected members. Plasma sTNFRSF1A levels were low in TRAPS patients in whom renal amyloidosis had not developed, but also in mutation-negative symptomatic subjects in 4 families, and in 14 patients (8%) with sporadic TRAPS. Reduced shedding of TNFRSF1A from monocytes was demonstrated in vitro in patients with the T50M and T50K variants, but not in those with other variants.Conclusion. The presence of TNFRSF1A shedding defects and low sTNFRSF1A levels in 3 families without
This investigation on stereotypies of domestic sows has two aims: 1) to investigate the behavioural profiles shown in the different parities and stages of the reproductive cycle, and 2) to characterise stereotypies by descriptive qualitative and quantitative parameters. As the commonly used functional characteristics of stereotypies were felt to be largely hypothetical at this stage, preventing a deeper understanding of this abnormal behaviour, two purely descriptive approaches were adopted: the first one separated such behaviour from other activities by intuitively essential features, that were condensed into an operational definition. Observations were made on the intensively kept sows of the Edinburgh School of Agriculture pig unit kept in the dry sow house and the lactating sow stalls. From scanning surveys and continuous focal animal samples, behavioural profiles were obtained for the sows of different ages and physiological states. Parity 1 was characterised by frequent and long lasting drowsy stances which probably were a "cut-off" reaction to the unfamiliar Dry-Sow-House environment. In parity 2 and 3 the sows showed increased investigative and manipulative behaviour, but also rapidly emerging stereotyped activities. These increased in kind, frequency and duration over the parities, but were confined to the pregnant animals in the dry sow stalls and virtually absent from the lactating sows which could interact with their piglets. The second approach was to measure the general repetitivity in the behavioural sequences by quantifying their informational content with the redundancy measure C. Both appraoches largely agreed when the intuitively defined stereotyped or non-stereotyped sections of behaviour were assessed for redundancy, the former being significantly more redundant in spite of overlapping C-values. The redundancy of all behaviour, summing variable, positional and stereotyped activities, gradually rose with parity through all cycle stages. In part this was due to the increasing proportion of the intuitively stereotyped sequences, and in part to the increasing redundancy of the remaining variable activity. The redundancy in the stereotyped sequences however remained fairly constant once they were established, and were in all parities well above the levels of variable behaviour. In order to appropriately compare stereotyped and variable activity, redundancies were not only calculated relative to the entire range of elements observed in the stalled dry sows, but also relative to the restricted range of the active elements of all or of each individual sow. All ANOVAs showed significant increases of redundancy over parities, but no effects of pregnancy or interaction to parity. In the discussion the two approaches are compared; from the process of acquiring the sterotypies we then derived the hypothesis, that a likely function could be to reach homeostasis in arousal by warding-off external stimuli and self-generating known sensory input. So far there is nevertheless firm evidence, that stereotypies are signs of major behavioural problems and of concurrently impaired welfare, especially at times of acquisition.
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