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O Järvi

Publications and source records attributed to O Järvi.

14 recordsLinked to original sources
PubMed1998

Fine-scale mapping of a novel dementia gene, PLOSL, by linkage disequilibrium.

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL; MIM 221770) is a rare hereditary cause of presenile dementia with autosomal recessive inheritance. Its unique feature is the cystic bone lesions that accompany the dementia. About 160 cases have been reported to date, mostly in Finland and Japan. The etiology and pathogenesis of PLOSL are unknown. We recently assigned the locus for PLOSL in the Finnish population to chromosome 19q13.1 (P. Pekkarinen et al., 1998, Am. J. Hum. Genet. 62, 362-272). In the present study, we restrict the critical region for PLOSL to 153 kb by linkage-disequilibrium mapping. First, three new microsatellite markers were revealed in the PLOSL critical region. These and three other markers spanning the critical region were analyzed in Finnish PLOSL families. Strong linkage disequilibrium (multipoint P value < 10(-47)) was detected between the markers and PLOSL, and for two markers, D19S1176 and D19S610, all the PLOSL chromosomes shared identical 171- and 218-bp alleles, respectively. Haplotype analysis revealed five different haplotypes in the Finnish PLOSL chromosomes. But all of them shared the region between markers D19S1175 and D19S608 that could be traced to one ancestor haplotype by single recombination events, thus defining the critical region as 153 kb. Multipoint association analysis also assigned the most likely location of the PLOSL locus within this interval to the immediate vicinity of marker D19S610. A promising positional candidate for PLOSL, an amyloid precursor-like protein, was studied by sequencing, but no mutations were detected. These results lay the basis for the cloning of this novel dementia gene and for diagnostics in the Finnish population using haplotype analysis.

Adaptor Proteins, Signal Transducing↗
PubMed1998

Assignment of the locus for PLO-SL, a frontal-lobe dementia with bone cysts, to 19q13.

PLO-SL (polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy) is a recessively inherited disorder characterized by systemic bone cysts and progressive presenile frontal-lobe dementia, resulting in death at <50 years of age. Since the 1960s, approximately 160 cases have been reported, mainly in Japan and Finland. The pathogenesis of the disease is unknown. In this article, we report the assignment of the locus for PLO-SL, by random genome screening using a modification of the haplotype-sharing method, in patients from a genetically isolated population. By screening five patient samples from 2 Finnish families, followed by linkage analysis of 12 Finnish families, 3 Swedish families, and 1 Norwegian family, we were able to assign the PLO-SL locus to a 9-cM interval between markers D19S191 and D19S420 on chromosome 19q13. The critical region was further restricted, to approximately 1.8 Mb, by linkage-disequilibrium analysis of the Finnish families. According to the haplotype analysis, one Swedish and one Norwegian PLO-SL family are not linked to the chromosome 19 locus, suggesting that PLO-SL is a heterogeneous disease. In this chromosomal region, one potential candidate gene for PLO-SL, the gene encoding amyloid precursor-like protein 1, was analyzed, but no mutations were detected in the coding region.

Adolescent↗
PubMed1994

Vascular changes and blood-brain barrier damage in the pathogenesis of polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (membranous lipodystrophy).

The histopathological, immunohistochemical and electron microscopic findings in eight patients with polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy (PLO-SL) are described. This autosomally recessively inherited disease is first manifested by multiple bone cysts, which are later followed around the age of 30 by severe neuropsychiatric syndrome. The pathogenesis of PLO-SL has not been established, and the search for the most suspected error in lipid metabolism has been unsuccessful. The typical macroscopic features were marked hydrocephalus ex vacuo due to severe destruction of the white matter (WM) with extensive secondary astrocytic gliosis, and with relatively better preserved gray matter (GM). The basement membranes of blood vessels with plump endothelium were thickened and often multiplied, most prominently in the WM. Extravasation of plasma constituents was demonstrated immunohistochemically. On the basis of the vascular changes, also present in bone lesions, it is proposed that severe chronic vasogenic brain edema is the main pathogenetic mechanism of the severe leukoencephalopathy in this disease entity.

Adult↗
PubMed1993

Adenoma residua in colorectal cancer. A study of 34 colorectal cancers detected by an immunological occult blood test.

A retrospective histological study was made searching for adenoma remnants in 34 colorectal cancer specimens detected by the quantitative and human Hb-specific immunological FECA-EIA test for occult blood in the faeces. As a control group, 34 colorectal cancer preparations from routine hospital material were studied in a similar manner. A difference was found between these materials, 12 out of 34 study cancers showing adenoma residua compared with only two in the control group. Even if a proportion of colorectal cancers is apparently not associated with adenomas, it is suggested that the existence of adenoma remnants is a sign of biologically early tumour development and consequently, it might correlate with a favourable prognosis.

Aged↗
PubMed1987

Decreased incidences of intestinal and diffuse types of gastric carcinoma in Finland during a 20-year period.

The incidence of gastric carcinoma (GCA) has decreased throughout the world. This decrease is attributed to a decline in incidence of the intestinal type of GCA (IGCA), whereas the diffuse (DGCA) type of GCA is considered to be endemic in nature and more stable in incidence. In the present study we have estimated how much the incidences of IGCA and DGCA have decreased in percentage in Finland from 1952-61 to 1972-81. Our calculations are based on the Finnish Cancer Registry data of new GCA cases, on population statistics in Finland, and on the percentage distribution of GCA subtypes in three consecutive samples of GCA patients collected in the time periods 1952-61 (reference series) and 1972-81 (two separate samples: series A and B). The samples totaled 1837 GCA cases. We calculated that the incidence of IGCA had decreased from 1952-61 to 1972-81 by 62-71% (reference series versus series A - reference series versus series B) among men and by 69-70% among women. Correspondingly, the incidence of DGCA was calculated to have decreased by 30-39% among men and 37-42% among women. We conclude that not only has the incidence of IGCA decreased in percentage approximately twice as much as the incidence of DGCA but DGCA has also distinctly decreased in incidence in Finland from 1952-61 to 1972-81.

Adult↗