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Nemo: an evolutionary and population genetics programming framework.

UNLABELLED: Nemo is an individual-based, genetically explicit and stochastic population computer program for the simulation of population genetics and life-history trait evolution in a metapopulation context. It comes as both a C++ programming framework and an executable program file. Its object-oriented programming design gives it the flexibility and extensibility needed to implement a large variety of forward-time evolutionary models. It provides developers with abstract models allowing them to implement their own life-history traits and life-cycle events. Nemo offers a large panel of population models, from the Island model to lattice models with demographic or environmental stochasticity and a variety of already implemented traits (deleterious mutations, neutral markers and more), life-cycle events (mating, dispersal, aging, selection, etc.) and output operators for saving data and statistics. It runs on all major computer platforms including parallel computing environments. AVAILABILITY: The source code, binaries and documentation are available under the GNU General Public License at http://nemo2.sourceforge.net.

Biological Evolution↗

Public knowledge and public trust.

As health care applications derived from human genetics research are likely to move increasingly from 'clinic to community', there is growing interest not just in how patients understand and take up health-related genetic information but also in the views of the wider population, as well as a range of professional groups. In this paper, issues relating public knowledge and public trust are raised and discussed in an attempt to move forward debates about public involvement in genomic research and the role of sociologists within interdisciplinary teams. As the field of public understanding of science has developed, we have seen a shift from a focus on the lack of scientific literacy as problem to a recognition of the range of different knowledges that people have and use as they confront science and technology in their everyday lives. As a mood for dialogue pervades many institutions in their relations with 'publics', attention must now be paid to the way in which knowledge and expertise is expressed, heard and acted upon in dialogic encounters. There is increasing concern about public trust in science and calls to increase public confidence, particularly through more open engagement with a range of publics. However, lack of trust or loss of confidence may be constructed as problems rather than reflecting empirical reality, where more complex relationships and attitudes prevail. Lack of trust is often privatized, deeply rooted in lived experience and routinely managed. Trust relations are generally characterized by ambivalence, uncertainty and risk, and are always provisional. Drawing on selected literature and empirical research to review and illustrate this field, this paper argues that scepticism or ambivalence on the part of publics are not necessarily problems to be overcome in the interest of scientific progress, but rather should be mobilized to enhance open and public debates about the nature and direction of genomics research, medicine, and the related social and ethical issues. Just as there can be no resolute expression of public knowledge or public opinion, it is unlikely that there is a resolute expression of public trust in genomics. However, ambivalence and scepticism can be harnessed as powerful resource for change, whether through the mobilization of public knowledges or the development of greater reflexivity within scientific institutions. This demands a sharing of power and greater public involvement in the early stages of policy formation and scientific and medical agenda setting.

Attitude↗

Prediction of genetic risk for metabolic syndrome.

OBJECTIVES: The aim of the study was to identify gene polymorphisms that confer susceptibility to metabolic syndrome in order to allow reliable assessment of genetic risk for this condition. METHODS AND RESULTS: The study population comprised 1788 unrelated Japanese individuals (1033 men, 755 women), including 1017 subjects with metabolic syndrome (634 men, 383 women) and 771 controls (399 men, 372 women). The genotypes for 158 polymorphisms of 133 candidate genes were determined with a method that combines the polymerase chain reaction and sequence-specific oligonucleotide probes with suspension array technology. Multivariable logistic regression analysis with adjustment for age, sex, and the prevalence of smoking revealed that the -1131T-->C polymorphism of the apolipoprotein A-V gene (APOA5) was significantly associated with the prevalence of metabolic syndrome, with the C allele representing a risk factor for this condition. A stepwise forward selection procedure demonstrated that APOA5 genotype (CC+TC versus TT) significantly affected the prevalence of metabolic syndrome. The C allele of this polymorphism was associated with an increased serum concentration of triglycerides and a decreased concentration of HDL-cholesterol. CONCLUSIONS: Genotype for APOA5 may prove reliable for assessment of genetic risk for metabolic syndrome.

Aged↗

Lower in vivo mutation rate of human immunodeficiency virus type 1 than that predicted from the fidelity of purified reverse transcriptase.

The level of genetic variation of human immunodeficiency virus type 1 (HIV-1), a member of the lentivirus genus of the Retroviridae family, is high relative to that of retroviruses in some other genera. The high error rates of purified HIV-1 reverse transcriptase in cell-free systems suggest an explanation for this high genetic variation. To test whether the in vivo rate of mutation during reverse transcription of HIV-1 is as high as predicted by cell-free studies, and therefore higher than that rates of mutation of retroviruses in other genera, we developed an in vivo assay for detecting forward mutations in HIV-1, using the lacZ alpha peptide gene as a reporter for mutations. This system allows the rates and types of mutations that occur during a single cycle of replication to be studied. We found that the forward mutation rate for HIV-1 was 3.4 x 10(-5) mutations per bp per cycle. Base substitution mutations predominated; G-to-A transition mutations were the most common base substitution. The in vivo mutation rates for HIV-1 are three and seven times higher than those previously reported for two other retroviruses, spleen necrosis virus and bovine leukemia virus, respectively. In contrast, our calculated in vivo mutation rate for HIV-1 is about 20-fold lower than the error rate of purified HIV-1 reverse transcriptase, with the same target sequence. This finding indicates that HIV-1 reverse transcription in vivo is not as error prone as predicted from the fidelity of purified reverse transcriptase in cell-free studies. Our data suggest that the fidelity of purified HIV-1 reverse transcriptase may not accurately reflect the level of genetic variation in a natural infection.

Animals↗

Accurate diagnosis of a homozygous G1138A mutation in the fibroblast growth factor receptor 3 gene responsible for achondroplasia.

Achondroplasia is the most common genetic form of dwarfism inherited as an autosomal dominant disorder. Individuals affected with achondroplasia have impaired ability to form bone from cartilage (endochondral bone formation). Homozygous achondroplasia is a neonatal lethal condition. The vast majority of patients with achondroplasia have a G-to-A transition at position 1138 of the fibroblast growth factor receptor 3 (FGFR3) cDNA sequence, resulting in the Gly-to-Arg substitution at position 380 of the FGFR3 protein. This mutation has been diagnosed by SfcI digestion of amplified genomic DNA. However, it has also been demonstrated that the SfcI digestion protocol does not consistently distinguish between DNA samples heterozygous and homozygous for the G1138A substitution. This study was designed to improve the molecular diagnosis based on the polymerase chain reaction (PCR) and restriction fragment length polymorphism (RFLP) techniques for the FGFR3 G1138A mutation. The newly designed forward primer contains one mismatch (G at position 1136) from the FGFR3 cDNA sequence (A at position 1136), thereby creating a PstI site (CTGCAG at positions 1134 to 1139) in the amplified DNA from alleles containing the G1138A mutation. The PCR-RFLP technique based on the PstI digestion of amplified genomic DNA with a novel forward primer shows 100% accuracy in diagnosis of the G1138A mutation in heterozygous and homozygous individuals.

Achondroplasia↗

In vivo somatic mutation systems in the mouse.

In an effort to meet the need for a fast and cheap in vivo prescreen for inherited mammalian point mutations, a somatic forward-mutation method, originally developed in an X-ray experiment, has more recently been tested in work with chemical mutagens. The method makes use of coat-color mutations because (a) the gene product is usually locally expressed, (b) mosaics can be detected with minimal effort, and (c) opportunities for making comparison with induction of germinal point mutations are greatest.--Following treatment of embryos that are heterozygous at specific coat-color loci, various induced genetic changes can result in expression of the recessive (RS) in clones derived from "mutant" melanocyte precursor cells. However, other events, such as decrease in the number of precursor cells, or disturbed differentiation, can also result in spots, which with careful classification can usually be distinguished from RS's on the basis of their location and color. When this is done, the relative RS frequencies for a series of compounds at least roughly parallel the relative spermatogonial mutation rates. The fact that easily measurable (though low) RS rates are obtained with compounds that have yielded negative results in spermatogonial tests is not surprising in view of the fact that RS's can be caused by several mechanisms besides point mutation.--In spite of the parallelism observed in one laboratory, the usefulness of the in vivo somatic mutation method as a prescreen could come to be doubted because of major discrepancies between results of similar experiments at different laboratories. However, it appears probable that at least some of these discrepancies are due to failure to discriminate between spots that probably resulted from melanocyte insufficiency and spots that resulted from expression of the recessive.--Reverse somatic mutation systems can potentially avoid some of the pitfalls of forward mutation systems. Such system are still in developmental stages.

Animals↗

The Holliday junction intermediates of lambda integrative and excisive recombination respond differently to the bending proteins integration host factor and excisionase.

In lambda site-specific recombination, the integrative and excisive reactions proceed via two different Holliday junction intermediates, both of which are generated and resolved by a pair of sequentially ordered single strand exchanges. Factors affecting the directionality and efficiency of the second pair of strand exchanges were examined using artificial Holliday junctions (chi-forms). The integrative and excisive recombination intermediates respond differently to the accessory DNA bending proteins integration host factor and excisionase (Xis). These differences between the two recombination intermediates result from a different interaction pattern between proteins binding to the left (P arm) and right (P' arm) of the crossover region. The effect of Xis protein on the directionality of resolution, i.e. the choice of which strands are exchanged, is consistent with a role in promoting the second strand exchange during excision. Proteins binding to the left of the crossover region (P arm) primarily influence the directionality of resolution, while proteins binding to the right (P' arm) have a greater effect on the overall efficiency of resolution. Together, the effect of proteins binding to sites in the P and P' arms is to greatly enhance resolution of the two different Holliday intermediates and to favor resolution in the 'forward' direction for both integrative and excisive recombination.

Bacteriophage lambda↗

Use of the spot, plate and suspension test systems for the detection of the mutagenicity of environmental agents and chemical carcinogens in Neurospora crassa.

N23 and N24, selected from hundreds of ad-3 mutants, have been used as testers for the spot, plate and suspension tests in Neurospora crassa. These two testers are highly sensitive to mutagens and are revertible by a specific group of chemicals. N23 can be reverted from an adenine-dependence to adenine-independence by agents which cause base-pair substitutions whereas N24 can be reverted by frameshift mutagens. Studies described here show that spot, plate and suspension tests using testers N23 and N24 are satisfactory substitutes for the ad-3 forward-mutation system for screening the mutagenic activity of environmental agents and chemical carcinogens in N. crassa.

Bacteriological Techniques↗

Acute, sequence-specific effects of oxytocin and vasopressin antisense oligonucleotides on neuronal responses.

Antisense oligodeoxynucleotides (antisense) are short length single strands of DNA with base sequences complementary to a length of messenger RNA of a specific gene. They can be taken up by neurons and hybridize with a complementary messenger RNA to selectively interrupt the expression of a particular gene. We now describe neuropeptide-specific, short-latency (within 2-6 h) effects of antisense infused into the supraoptic nucleus on the responses of rat neurohypophysical neurons, in vivo, to various stimuli. Oxytocin antisense specifically (i) reduced the electrophysiological responses of putative oxytocin, but not vasopressin neurons, (ii) inhibited cholecystokinin-induced and electrically stimulated release of oxytocin from the neurohypophysis, and (iii) reversibly abolished cholecystokinin-induced expression of Fos within the supraoptic nucleus. Vasopressin antisense reduced the excitatory responses of vasopressin neurons, but not of oxytocin neurons. As neuropeptide content within the supraoptic nucleus and neurohypophysis remains unaltered at this time, antisense may induce anticipatory, feed-forward alterations in electrical activity in addition to any possible effects on peptide synthesis.

Animals↗

Developmental phenotypic plasticity: where internal programming meets the external environment.

Developmental plasticity has long been the focus of research in both evolutionary ecology and molecular genetics. Recently, the concept of ontogenetic contingency has been proposed to indicate the dependence of plastic responses on the timing and sequence of developmental events. Also, the idea of the developmental reaction norm has been put forward to indicate the complex interactions among development, phenotypic plasticity, and allometry of different structures. Finally, for the first time, studies ranging from the ecological to the molecular aspects of the same plastic response are available on insect and flowering plant model systems.

Biological Evolution↗

Current issues in psychoanalytic child development.

This paper addresses Anna Freud's propositions about the significance of the developmental point of view. Beyond the role of genetic reconstruction, the developmental dimension demands our investigation of developmental reorganization, which leads to new structures with new priorities and new hierarchies. This paper also attempts to explore the difficulties and resistances in the path that forwards the developmental point of view. References are made to object relations and intersubjectivity theories, which seem to give relatively little attention to the structure and the history of pathology. Moreover, we have outlined areas of development and maturation that need further investigation in order to achieve a better understanding of the complex evolvement of the mind.

Adolescent↗

Pathogenesis of Helicobacter pylori infection.

Helicobacter pylori, a gram-negative, microaerophilic, motile, spiral-shaped bacterium, has been established as the etiologic agent of gastritis and peptic ulcers and is a major risk factor for gastric adenocarcinoma and mucosa-associated lymphoid tissue lymphoma (MALT). The ability of H. pylori to cause this spectrum of diseases depends on host, bacterial, and environmental factors. Bacterial factors critical for H. pylori colonization of the gastric mucosa include urease, flagella, adhesins, and delta-glutamyltranspeptidase. Lipopolysaccharide, urease, and vacuolating cytotoxin are among the factors that allow H. pylori to persist for decades and invoke an intense inflammatory response, leading to damaged host cells. Genes in the cag pathogenicity island also contribute to the inflammatory response by initiating a signal transduction cascade, resulting in interleukin-8 production. Proinflammatory cytokines and a Th-1 cytokine response further exacerbates the inflammation. Products of the enzymes nitric oxide synthase (iNOS) and cyclooxygenase may perturb the balance between gastric epithelial cell apoptosis (ulcer formation) and proliferation (cancer). The host Th-1 response and antibodies directed against H. pylori do not eliminate the organism, which presents challenges to vaccine development. Vaccines that include urease have shown some promise, but improved adjuvants and animal models should hasten progress in vaccine research. H. pylori is the most genetically diverse organism known, and the panmictic population structure may contribute to the varying ranges of disease severity produced by different strains. The complete genome sequence of two strains of H. pylori has propelled this field forward, and numerous groups are now using genomic, proteomic, and mutagenetic approaches to identify new virulence genes. Discovered only in 1982, H. pylori is now among the most intensely investigated organisms. This review summarizes recent progress in this rapidly moving field.

Journal Article↗

Divergence of reiterated sequences in a series of genital isolates of herpes simplex virus type 1 from individual patients.

Both serotypes of herpes simplex virus (HSV), HSV-1 and HSV-2, are aetiological agents of genital herpes, although genital herpes caused by HSV-1 recurs less frequently. The HSV-1 genome contains a number of short, tandemly repeated sequences, and some reiterated sequences can serve as sensitive markers for the differentiation of HSV-1 strains. In the present study, variation in reiterations (assumed to be due to different copy numbers of tandemly repeated sequences) was examined in HSV-1 isolates from genital lesions from the same individual. Six sets (three primary-recurrence sets and three multiple-recurrence sets) of HSV-1 isolates were analysed: the primary-recurrence set consisted of two isolates (one isolated at a primary episode and the other at a recurrent episode) from the same individual; the multiple-recurrence set consisted of plural isolates from different episodes of recurrence in the same individual. Variations in length of the major DNA fragment, containing reiteration I (within the a sequence) and/or reiteration IV (within introns of genes US1 and US12), were detected between isolates of each multiple-recurrence set, but not of the primary-recurrence set. Thus, HSV-1 isolates of multiple-recurrence sets are assumed to have diverged more widely within each set than those of primary-recurrence sets, probably because of more rounds of virus DNA replication. This divergence of reiterations seems to indicate a forward step in the division of HSV-1 from a common ancestor into different lineages.

Cohort Studies↗

NTP Toxicology and Carcinogenesis Studies of 4-Hexylresorcinol (CAS No. 136-77-6) in F344/N Rats and B6C3F1 Mice (Gavage Studies).

4-Hexylresorcinol, which is used as an anthelmintic and antiseptic, was nominated by the National Cancer Institute for study. Toxicology and carcinogenesis studies were conducted by administering 4-hexylresorcinol (greater than 99% pure) in corn oil by gavage to groups of F344/N rats and B6C3F1 mice of each sex for 16 days, 13 weeks, or 2 years. Sixteen-Day and Thirteen-Week Studies: In the 16-day studies, groups of five rats and five mice of each sex were administered 0, 31.3, 62.5, 125, 250, or 500 mg/kg 4-hexylresorcinol. Survival was not affected. Decreased body weights were seen in male rats that received 250 or 500 mg/kg 4-hexylresorcinol. No other effects were observed. In the 13-week studies, groups of 10 rats and 10 mice of each sex were administered 0, 62.5, 125, 250, 500, or 1,000 mg/kg of the chemical, 5 days per week. All rats and male mice and 9/10 female mice that received 1,000 mg/kg died before the end of the studies. Final mean body weights of male rats that received 250 or 500 mg/kg were 22% or 38% lower than that of the vehicle controls; final mean body weights of female rats that received 250 or 500 mg/kg were 16% or 9% lower. No compound-related gross or microscopic pathologic effects were observed in rats. No body weight effects were observed for mice. Mild to moderate nephropathy was dose related in male and female mice. Based on these results, 2-year toxicology and carcinogenesis studies of 4-hexylresorcinol were conducted by administering 0, 62.5, or 125 mg/kg to groups of 50 F344/N rats and 50 B6C3F1 mice of each sex, 5 days per week. Body Weight and Survival in the Two-Year Studies: Mean body weights of high dose male rats were 7%-11% lower than those of the vehicle controls throughout the study. Mean body weights of low dose male and dosed female rats were similar to those of the vehicle controls. The body weights of dosed male and dosed female mice were comparable to those of vehicle controls except during the last 16 weeks of the studies, when body weights were 6%-16% lower in the dosed groups. No significant differences in survival were observed between any groups of rats or mice of either sex (male rats: vehicle control, 30/50; low dose, 29/50; high dose, 33/50; female rats: 28/50; 32/50; 30/50; male mice: 36/50; 26/50; 30/50; female mice: 35/50; 32/50; 35/50). Nonneoplastic and Neoplastic Lesions in the Two-Year Studies: Two astrocytomas and an oligodendroglioma were observed in high dose male rats, a glioma was observed in one low dose male rat, and an oligodendroglioma was observed in one vehicle control male rat. These neoplasms were not considered to be related to 4-hexylresorcinol administration. Focal medullary hyperplasia of the adrenal gland was observed at increased incidences in dosed male mice (5/50; 16/50; 10/49). Pheochromocytomas in male mice occurred with a marginal upward trend (1/50; 2/50; 5/49). Historically, these neoplasms are observed in about 1% of corn oil vehicle control B6C3F1 male mice. The incidences of neoplasms of the harderian gland in male mice were slightly increased over those in the vehicle controls (adenomas or carcinomas, combined: 0/50; 4/50; 3/50). Decreases were observed in the incidences of mononuclear cell leukemia in dosed male (12/49; 7/50; 1/50) and female (16/50; 3/50; 2/50) rats, hepatocellular adenomas or carcinomas (combined) in dosed male mice (21/50; 9/50; 9/50), and circulatory system tumors in male (10/50; 4/50; 2/50) and female (6/50; 2/49; 0/50) mice. These decreased incidences of tumors in rats and mice are considered to be possibly related to 4-hexylresorcinol administration. The incidences and severity of nephropathy (male: 39/50; 43/50; 47/50; female: 7/50; 40/49; 47/50) and incidences of osteosclerosis (male: 5/50; 5/50; 15/50; female: 21/50; 25/49; 40/50) were increased in both dosed male and female mice and are considered to be related to chemical exposure. Genetic Toxicology: 4-Hexylresorcinol was not mutagenic for Salmonella typhimurium strains TA98, TA100, TA1535, or TA1537 with or without S9 metabolic activation. 4-Hexylre, TA1535, or TA1537 with or without S9 metabolic activation. 4-Hexylresorcinol induced forward mutations at the TK locus in mouse L5178Y cells in the presence of S9; no response was observed in the absence of metabolic activation. In cytogenetic assays with cultured Chinese hamster ovary (CHO) cells, 4-hexylresorcinol caused an increase in the frequency of sister chromatid exchanges (SCEs) in the absence of metabolic activation; no induction of SCEs was observed in the presence of S9. Chromosomal aberrations were not induced in CHO cells with or without metabolic activation. Data Audit: The data, documents, and pathology materials from the 2-year studies of 4-hexylresorcinol were audited at the NTP Archives. The audit findings show that the conduct of the studies is documented appropriately and support the data and results given in this Technical Report. Conclusions: Under the conditions of these 2-year gavage studies, there was no evidence of carcinogenic activity of 4-hexylresorcinol for male or female F344/N rats given doses of 62.5 or 125 mg/kg. There was equivocal evidence of carcinogenic activity of 4-hexylresorcinol for male B6C3F1 mice, as shown by marginally increased incidences of pheochromocytomas (and hyperplasia) of the adrenal medulla and of harderian gland neoplasms. There was no evidence of carcinogenic activity for female B6C3F1 mice given doses of 62.5 or 125 mg/kg 4-hexylresorcinol. Decreased incidences of three tumors types were considered related to 4-hexylresorcinol administration: mononuclear cell leukemia in male and female rats, hepatocellular neoplasms in male mice, and circulatory system tumors in male and female mice. Synonyms: 4-hexyl-1,3-benzenediol; 4-hexyl-1,3-dihydroxybenzene

Journal Article↗

[Construction of subtracted cDNA library in human Jurkat T cell line induced by arsenic trioxide in vitro].

OBJECTIVE: To understand the differentially expressed genes in human T lymphocytes induced by arsenic trioxide (As(2)O(3)) and to explore mechanism of its immunotoxicity and immune suppression. METHODS: Human Jurkat T cell line was treated by arsenic trioxide (5 micromol/L, 24 h) in vitro, as a sample model. Then, the differentially expressed genes were cloned and the subtractive cDNA library from Jurkat T cell line was constructed by suppression subtractive hybridization (SSH). Polymerase chain reaction (PCR) and sequencing techniques were applied to identify positive clones. RESULTS: The forward subtracted cDNA library contained differentially expressed genes from Jurkat T cell line induced by arsenic trioxide was constructed, including 29 different gene fragments and only replicated one in the subtracted cDNA library identified by PCR and sequencing analysis. These gene sequences were 95%-100% analogous to the genes in public database (GenBank/EMBL). The cDNA library contained oxidative metabolic genes in mitochondria (triose phosphate dehydrogenase, NADH4, pyrophosphate synthase, 16S rRNA ribosome, succinate-CoA ligase and ATP synthase 6); transcriptional and translation genes poly (A) binding protein, t-RNA-guanine transglycoslase, ribosomal protein L23, ribosomal protein S15A, eukaryotic translation initiation factor 3, Rab interaction protein 5, splicing factor-arginine serine rich 5, and ADP-ribosylation factor-like 6 interacting protein), oxide stress related genes (ferritin high chain and high-mobility group protein 2); protein activating and signaling pathway related genes (casein kinase, serine kinase 2 and phosphatidylinositol-four-phosphate adaptor protein-1-associated protein); cell differentiation and apoptosis associated genes (NB4 cell apoptosis related protein and myeloid differentiation primary response protein) and five genes with unknown function (KIAA0092, CGI-147protein, GCI-35, nucleolar phosphoprotein Nopp34 and Mus muscular partial mRNA for hypothetical protein), as well as a novel gene unmatched to the sequence in GenBank. CONCLUSIONS: The forward subtracted cDNA library contained differentially expressed genes from Jurkat T cell line induced by arsenic trioxide was successfully constructed. And, genes not involved in previous research on arsenic were found. Results of analysis for these genetic function suggested that there should be many genes involved in process of T lymphocytes apoptosis or injury induced by arsenic trioxide and that there should still be many genes associated with arsenic that were not reported in the past.

Antineoplastic Agents↗

Detection of DNA sequence polymorphisms by enzymatic amplification and direct genomic sequencing.

The discovery of RFLPs and their utilization as genetic markers has revolutionized research in human molecular genetics. However, only a fraction of the DNA sequence polymorphisms in the human genome affect the length of a restriction fragment and hence result in an RFLP. Polymorphisms that are not detected as RFLPs are typically passed over in the screening process though they represent a potentially important source of informative genetic markers. We have used a rapid method for the detection of naturally occurring DNA sequence variations that is based on enzymatic amplification and direct sequencing of genomic DNA. This approach can detect essentially all useful sequence variations within the region screened. We demonstrate the feasibility of the technique by applying it to the human retinoblastoma susceptibility locus. We screened 3,712 bp of genomic DNA from each of nine individuals and found four DNA sequence polymorphisms. At least one of these DNA sequence polymorphisms was informative in each of three families with hereditary retinoblastoma that were not informative with any of the known RFLPs at this locus. We believe that direct sequencing is a reasonable alternative to other methods of screening for DNA sequence polymorphisms and that it represents a step forward for obtaining informative markers at well-characterized loci that have been minimally informative in the past.

Base Sequence↗

[Dementia. Outlook on current developments].

The results of recent neuropathologic and genetic studies in Alzheimer's disease led to a renewed interest in differentiations within the dementia syndrome. New disease-entities can be distinguished (Lewy Body Dementia, Frontal Lobe Dementia) and other criteria have been put forward for vascular dementia. Hachinski's Ischemic Score, for many years the diagnostic criterium for vascular dementia, has been cancelled. Instead a CT- or MRI scan must demonstrate the vascular pathology in the brain. For clinical practice, the differentiation between cortical and subcortical dementia is still important. For reasons of management it appears useful to distinguish between early-onset and late-onset Alzheimer's disease. The amyloid cascade hypothesis for the pathogenesis of Alzheimer's disease is credible for the early-onset as well as the late-onset type, because results from epidemiological as well as from neurobiological studies might be fit in. Moreover, this hypothesis is promising from the point of view of developing specific therapies. Finally, the breakdown of the dementia syndrome in separate disease-entities stimulated interest in the psychiatric symptoms in these patients and activated the development of rational and symptomatic therapeutics.

Aged↗