The Finnish Disease Heritage III: the individual diseases

This article is the third and last in a series entitled The Finnish Disease Heritage I-III. All the 36 rare hereditary diseases belonging to this entity are described for clinical and molecular genetic purposes, based on the Finnish experience gathered over a period of half a century. In addition, five other diseases are mentioned. They may be included in the list of the "Finnish diseases" after adequate complementary studies.     

Finnish Disease Heritage II: population prehistory and genetic roots of Finns

In the second part of my review of the Finnish Disease Heritage (FDH), I discuss the settling of Finland; factors influencing the genes of a population, such as agriculture versus hunting/fishing/gathering, trading and cultural relations, wars and other kinds of violence, and bottlenecks; relatives of the Finns in the light of classical European studies, classical Finnish studies, mtDNA and Y-chromosomal studies; the genes of the Finns today, characterizing FDH, the east-west difference among Finns, and minorities in Finland, viz. the Lapps or Saami and Swedish-speaking Finns.     

Coeliac Disease: background and biochemical aspects

Coeliac Disease has to be considered a main food related affliction, with life long consequences for the people having the disease. Coeliac Disease patients suffer from adverse effects that can be related to specific gluten peptide sequences that trigger a sequence of immune related reactions leading to damage of the intestine and related malabsorption symptoms. Recently, detailed information has come available on peptide sequences that are toxic for Coeliac Disease patients. This information is discussed in relation to prevention of the disease and the development of safe cereals for Coeliac Disease patients.     

Chopper-stabilized gas chromatography-electroantennography: Part I. background, signal processing and example

A new method that can improve gas-chromatography-electroantennographic detection (GC-EAD) by orders of magnitude through a technique known as chopper stabilization combined with matched filtering in colored noise is presented. The EAD is a physiological recording from the antenna of an insect which can be used to find compounds in the GC effluent that the antenna is able to detect, having important applications for pest control and understanding of chemical communication in nature. The new method is demonstrated with whole-animal male Helicoverpa zea antennal preparations for detection of major pheromone component (cis-11-hexadecenal) and compared to results obtained using traditional EAD recording techniques. Results indicate that chopper stabilization under these circumstances can increase odorant detection performance by a factor of approximately 10(4) over traditional methods. The time course of the response of the antenna is also better resolved under chopped conditions. Although the degree of improvement is expected to vary with insect species, odor, and insect preparation, under most circumstances a more sensitive and robust GC-EAD instrument will result from the application of this technique.     

Disease lesion mimics in maize: I. Effect of genetic background,temperature, developmental age,and wounding on necrotic spot formation with Les1

Les1, a dominant gene of maize (Zea mays L.), results in the production of necrotic leaf spots. Expression of this trait is temperature sensitive, and the nonpermissive temperature for expression is determined by the genetic background in which the gene is placed. Exposure to nonpermissive conditions for 24–48 hr will induce lesion production in the most sensitive genotype. Lesions form first at the leaf tip, the oldest part of the leaf, and progress basipetally through fully expanded tissue. Leaves excised from plants grown at either permissive or nonpermissive temperatures and placed in water, gibberellic acid, or abscisic acid solutions form no new lesions at either 20 or 30°C, and the leaves senesce rapidly. However, when leaves excised from normal and Les1 plants are placed in kinetin, senescence is delayed and numerous lesions develop at 20°C on Les1 plants. Our results suggest that there is a developmental time window during which maize leaf cells can be induced to form lesions: cells must be fully elongated but not yet senescent. This hypothesis is strengthened by the observation that pinprick wounding of leaves induces lesions only in a band of tissue approximately 2 days younger than the area of the leaf currently producing lesions. Various models for the action of Les1 in causing discrete lesion formation are discussed.     

Genomewide Linkage Analysis of Celiac Disease in Finnish Families

Celiac disease (CD), or gluten-sensitive enteropathy, is a common multifactorial disorder resulting from intolerance to cereal prolamins. The only established genetic susceptibility factor is HLA-DQ, which appears to explain only part of the overall genetic risk. We performed a genomewide scan of CD in 60 Finnish families. In addition to strong evidence for linkage to the HLA region at 6p21.3 (Z(max)>5), suggestive evidence for linkage was found for six other chromosomal regions--1p36, 4p15, 5q31, 7q21, 9p21-23, and 16q12. We further analyzed the three most convincing regions--4p15, 5q31, and 7q21--by evaluation of dense marker arrays across each region and by analysis of an additional 38 families. Although multipoint analysis with dense markers provided supportive evidence (multipoint LOD scores 3.25 at 4p15, 1.49 at 5q31, and 1.04 at 7q21) for the initial findings, the additional 38 families did not strengthen evidence for linkage. The role that HLA-DQ plays was studied in more detail by analysis of DQB1 alleles in all 98 families. All but one patient carried one or two HLA-DQ risk alleles, and 65% of HLA-DQ2 carriers were affected. Our study indicates that the HLA region harbors a predominant CD-susceptibility locus in these Finnish families.     

Perturbance analysis of nuclear determination in Tetrahymena I: background, rationale, and illustrative example, employing temperature responses

A model based on comparative considerations, is presented for the nuclear determination of mating type in Tetrahymena thermophila. The model proposes a system of three binary control elements, each capable of stable persistence in one of two states. A general method is proposed for evaluating the model and for assigning particular mating types to particular compound states. Preliminary assignments of mating types are made from the responses of nuclei to temperature differentials.     

Destination Culture: Tourism, Museums, and Heritage

Destination Culture: Tourism, Museums, and Heritage. Barbara Kirshenblatt-Gimblett. Berkeley: University of California Press. 1998.xviii. 326pp.     

Heritage and Knowledge: Apparatus,Logic and Strategies in the Formation of Heritage

Heritage as a category reflects diverse political positions. All heritagisation processes imply the creation of hierarchies, selection, ranking, and categorisation of what is worthy or unworthy of being heritage, and all heritage creation involves certain disciplinary processes that confer legitimacy. As a modern invention, heritage was built on two closely related cornerstones: the distinction between nature and culture and the difference between normalised knowledge and marginal knowledge. As a result, refining processes were applied which became strategies to legitimise political domination. In this paper the constituent process of heritage creation and its links to normative knowledge are analysed, illustrating the various relationships between types of knowledge in the heritagisation process with the case of the Albufera Natural Park in Spain. A particular focus is placed on the processes that affect territories and natural resources, modifying the material conditions of the local population. Beyond giving rise to a mere acceptance of imposed expert knowledge, the analysed dynamics reveal the responsiveness of the local actors, as they make use of this knowledge in the context of a counter-hegemonic discourse.     

Cytosolic phosphofructokinase from spinach leaves : I. Purification, characteristics, and regulation

Cytosolic ATP-dependent phosphofructokinase (PFK) from spinach leaves (Spinacia oleracea L.) was enriched 2600-fold by (NH₄)₂SO₄ fractionation, DEAE anion exchange chromatography, Blue Sepharose CL-6B, and ATP agarose type 3-affinity chromatography. The final preparation had a specific activity of 417 nkat per milligram protein and exhibited four bands between 50 and 70 kilodaltons following denaturing electrophoresis. Only one band of ATP- and fructose 6-phosphate (F-6-P)-dependent, Pistimulated activity was detected following isoelectric focusing PAGE and nondenaturing discontinuous PAGE of the final preparation. Crude extracts contained, in addition to the band observed in the final preparation, a second band that was inhibited by Pi. The latter band is presumably chloroplastic PFK. PFK was stimulated by the anions Pi²⁻, Cl⁻, SO₄²⁻, NO₃⁻, HAsO₄²⁻, and HCO₃⁻ but was not affected by NH₄⁺. Pi and Mg²⁺ changed the response of PFK toward pH and affected the saturation kinetics of F-6-P. In general, activity was highest when Pi was high and (or) Mg²⁺ was low. Phosphoenolpyruvate (PEP), 2-PGA, and PPi, but not 3-PGA, inhibited PFK. Although the inhibition by PEP and 2-PGA was reduced or relieved by Pi, the inhibition by PPi was not affected by Pi. F-2, 6-P₂ had no effect upon the activity of PFK. It is proposed that, in the cytosol of spinach leaves, PFK is likely to be more active during the dark, when cytosolic Pi levels are high, than in the light.     

Hyperprolactinemia: causes, diagnosis, and treatment

The basic data on hyperprolactinemia (i.e. an excess of PRL above a reference laboratory's upper limits), the most common endocrine disorder of the hypothalamic-pituitary axis are given in this review. The following issues are discussed: regulation of prolactin (Prl) secretion, definition of hyperprolactinemia, its etiology and pathogenesis as well as its symptoms, diagnosis, and treatment (including medical and surgical therapy). It should be stressed that finding of elevated PRL serum concentrations constitute the beginning of diagnostic procedure and, after exclusion of physiologic, pharmacologic, and other organic causes of increased PRL levels, should be followed by detailed diagnosis including MRI. In patients in whom hyperprolactinemia has been confirmed the treatment with dopamine agonists (with prevalence of cabergoline, followed by quinagoline) is currently considered first-choice therapy. Surgery should be performed only in the patients resistant or intolerant to these agents, or in patients who refuse long-term therapy.