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Biomedical subjects

J Palo

Publications and source records attributed to J Palo.

At least 19 recordsLinked to original sources
PubMed2004

End of life decisions: attitudes of Finnish physicians.

OBJECTIVES: This study investigated Finnish physicians' experiences of decisions concerning living wills and do not resuscitate (DNR) orders and also their views on the role of patients and family members in these decisions. DESIGN: A questionnaire was sent to 800 physicians representing the following specialties: general practice (n = 400); internal medicine (n = 207); neurology (n = 100), and oncology (n = 93). RESULTS: The response rate was 56%. Most of the respondents had a positive attitude toward (92%), and respect for (86%) living wills, and 72% reported situations in which such a will would have been helpful, although experience with their use was limited. The physicians reported both benefits and problems with living wills. Thirteen per cent had completed a living will of their own. Half did not consider living wills to be reliable if they were several years old. Do not resuscitate orders were interpreted in two ways: resuscitation forbidden (70%) or only palliative (symptom oriented) care required (30%). The respondents also documented DNR orders differently. Seventy two per cent discussed DNR decisions always or often with patients able to communicate, and even 76% discussed DNR orders with the family members of patients unable to communicate. Most respondents were able to approach a dying patient without difficulty. They also felt that education in general was needed. CONCLUSIONS: In general Finnish physicians accept living wills, but find they are accompanied by several problems. Many problems could be avoided if physicians and patients conducted progressive discussions about living wills. The differing interpretations of DNR orders are a matter of concern in that they may affect patient treatment. The promotion of patient autonomy with respect to treatment seems rather good, but the limitations of the study need to be kept in mind.

Attitude of Health Personnel↗
PubMed2001

Increasing prevalence of multiple sclerosis in Finland.

OBJECTIVES: To follow-up the prevalence trends of MS from 1983 to 1993 in western and southern Finland. MS epidemiology has been previously followed from 1964 to 1978 in these regions. The updated prevalences were correlated with incidence trends in the same period. METHODS: Age-adjusted and age-specific MS prevalence rates were calculated for cases classified by Poser's criteria. RESULTS: In the western health-care districts, Seinäjoki and Vaasa, prevalences in 1993 were 202/10(5) and 111/10(5). In the southern district Uusimaa the respective figure was 108/10(5). In Seinäjoki a significant 1.7-fold increase was found in 1993 as compared to 1983, mainly due to increased incidence. In Uusimaa a significant 1.2-fold increase in prevalence was found in the presence of stable incidence. In Vaasa prevalence was stable, although incidence was declining. CONCLUSION: The prevalence of MS is increasing in Seinäjoki and Uusimaa but not in Vaasa. Both the prevalence and incidence in Seinäjoki are now among the highest reported.

Adolescent↗
PubMed1999

The cover-up of president Urho Kekkonen's dementia and its impact on the political life of Finland-a personal account.

Urho Kekkonen, born in 1900, was elected President of Finland in 1956. He stayed in office for 25 years, the longest term for any democratically elected chief of state, until his resignation in 1981. Since he was always a model of good health, news of his cognitive decline while still in office came as a surprise to the whole nation. The impact was aggravated by an attempted cover-up of his dementia. The attempt failed and the health of presidential candidates became, suddenly, a topic of intense public discussion. No special team of presidential doctors was established but Kekkonen's successor initiated a practice of reporting annually on his health. The ethical dilemma involving mass media was, and still is, its duty to inform people versus its right to self-censorship, which was practised in Kekkonen's case. The physicians face the question of when, how and whom to inform when they notice that the president or some other powerful leader suffers from cognitive decline or other neuropsychological or mental disability. These are universal problems whose solution depends on the degree of democracy and freedom of expression in each country. Kekkonen died in complete privacy in 1986. Until now, no scientific report of his cognitive decline has been published.

Dementia↗
PubMed1998

Golli-MBP gene in multiple sclerosis susceptibility.

Multiple sclerosis (MS) is an oligo- or polygenic disease but no specific susceptibility genes have been identified so far. In the Finnish population we have previously found evidence for linkage between MS and the myelin basic protein gene (here called Golli-MBP gene) suggesting that either Golli-MBP or another gene in its vicinity contributes to MS suceptibility. Here we have screened the Golli-MBP gene for nucleotide variations and carried out multipoint association analyses in a Finnish case-control data-set as well as in an independent data-set composed of 151 MS families from Finland and Sweden. In both data-sets we found association between MS and alleles in the 1.27 kilobase (kb) range at a tetranucleotide repeat element (TGGA)n which is located 1 kb upstream of the MBP exon 1. Haplotype analyses suggested that the MS-associated 1.27 kb alleles can be split into predisposing and non-predisposing variants and provided evidence that the candidate DNA region contributing to MS susceptibility should be located at the Golli-MBP gene within a 20-25 kb segment that was conserved in the predisposing haplotypes. These findings suggest a role for the Golli-MBP locus in MS susceptibility, at least in a subset of patients, and serve as a basis for highly focused attempts to identify predisposing mutation(s).

Adult↗
PubMed1997

Tissue distribution and levels of gelsolin mRNA in normal individuals and patients with gelsolin-related amyloidosis.

We measured quantitatively the mRNA levels of intracellular and secretory forms of gelsolin, an actin-modulating protein, in human tissues from subjects of different ages. The intracellular gelsolin mRNA constituted the major type of gelsolin steady-state mRNA in all tissues analyzed. Both forms of gelsolin were expressed in most adult tissues, with particularly high mRNA levels in all types of muscle and interestingly in skin. Between the adult and infantile tissues the most striking difference in expression levels was found in liver, as the adult liver contained only a subtle amount of gelsolin mRNA. Skin and muscle samples from patients with gelsolin-related amyloidosis (FAF), with significantly increased concentrations of serum gelsolin, did not reveal an increased expression of the gene, and both mutant and wild-type alleles were expressed in equal amounts. The high level of expression of the gelsolin gene in the skin in general could locally contribute to the characteristic skin amyloidosis in FAF patients.

Adult↗
PubMed1997

Immune system genes in multiple sclerosis: genetic association and linkage analyses on TCR beta, IGH, IFN-gamma and IL-1ra/IL-1 beta loci.

The role of genetic factors in the etiology of multiple sclerosis (MS) has been clearly demonstrated but the loci determining susceptibility to this disease remain largely unidentified. A contribution from several immune system genes has been suggested based on animal models and association/linkage analyses on MS patients and families. With the exception of the findings from the HLA complex, studies on candidate immune system genes have provided controversial results. Here we have performed genetic association and linkage analyses on four chromosomal regions containing immune system genes. A possible role for each of these loci in MS has been previously suggested. In data-sets derived from the Finnish population we found no evidence for contribution of the T-cell receptor beta chain (TCR beta chromosome 7q35), immunoglobulin heavy chain (IGH chromosome 14q32), interferon-gamma (IFN-gamma chromosome 12q14-q15) or interleukin-1 receptor antagonist/interleukin-1 beta (IL-1ra/IL-1 beta chromosome 2q14-q21) loci in the genetic susceptibility to MS.

Adult↗
PubMed1997

Genomewide scan of multiple sclerosis in Finnish multiplex families.

Multiple sclerosis (MS) is a neurological, demyelinating disorder with a putative autoimmune etiology. It is thought to be a multifactorial disease with a complex mode of inheritance. Here we report the results of a two-stage genomewide scan for loci predisposing to MS. The first stage of the screen, with a low-resolution map, was performed in a selection of 16 pedigrees collected from an isolated Finnish population. Multipoint, non-parametric linkage analysis of the 328 markers did not reveal statistically significant results. However, 10 slightly interesting regions (P = .1-.15) emerged, including our previous findings of the HLA complex on 6p21 and a putative locus on 5p14-p12. Eight of these novel regions were further analyzed by use of denser marker maps, in the second stage of the scan. For the chromosomal regions 4cen, 11tel, and 17q, the statistical significance increased, but not conclusively; for 2q32 and 10q21, the statistical significance did not change. Accordingly, genotyping of the high-density markers in these regions was performed, and the data were analyzed by use of two-point, parametric linkage analysis using the complete pedigree information of the 21 Finnish multiplex families. We detected suggestive evidence for a predisposing locus on chromosomal region 17q22-q24. Several markers on 17q22-q24 yielded positive LOD scores, with the maximum LOD score (Zmax) occurring with D17S807 (Zmax = 2.8, theta = .04; dominant model). Interestingly, a suggestive linkage between MS and the markers on 17q22-q24 was also revealed by a recent genomewide scan in MS families from the United Kingdom.

Autoimmune Diseases↗
PubMed1996

DNA sequences of RAPD fragments in artiodactyls.

A bovine RAPD profile, generated by a 10-mer primer, was analysed by sequencing the major fragments. Three of four different fragments showed homologies to previously characterized mammalian sequences. One was 61-66% identical to LINE sequences and another was 78.5% identical to a human chromosome 2 sequence tagged site. The third fragment was 93.1% identical to the human type 2 inositol 1,4,5-trisphosphate receptor gene. This fragment had counterparts in white-tailed deer and reindeer; fragments of slightly different size in these species showed high sequence similarity and the size differences were due to varying numbers of dinucleotide microsatellite repeats inside the fragment.

Animals↗
PubMed1995

Haplotype analysis in gelsolin-related amyloidosis reveals independent origin of identical mutation (G654A) of gelsolin in Finland and Japan.

Familial amyloidosis, Finnish type (FAF) (gelsolin-related amyloidosis) is an autosomal dominant form of systemic amyloidosis characterized by corneal lattice dystrophy and peripheral polyneuropathy. The accumulating protein in FAF consists of fragments of gelsolin, an actin-modulating protein. The gelsolin mutation G654A has been found in both Finnish and Japanese patients. To study the origin of the gelsolin mutation in these patients we performed haplotype analysis in 10 Finnish and 2 Japanese FAF families. Poymorphic DNA markers GSN, D9S103, AFMa061xd9, and AFMa139xb9 revealed a uniform disease haplotype in all the disease-associated chromosomes of the Finnish FAF families, which was different from the one observed in the Japanese families. The present results and the previously detected gelsolin mutation G654T in Czech and Danish FAF patients suggest that nucleotide 654 may represent a mutation hot spot in the gelsolin gene. The DNA markers studied here will be useful in future genealogical analyses of FAF.

Amyloid Neuropathies↗
PubMed1995

Developing microsatellite markers for insect population structure: complex variation in a checkerspot butterfly.

We isolated and characterized two microsatellite markers from the genome of the endangered checkerspot butterfly Melitaea cinxia L. In Finland, this species only survives on the Aland islands, where it exhibits a highly fragmented metapopulation structure on small meadows. Four alleles were observed at the locus CINX1 and nine at CINX4; the total gene diversities at the two loci were HT = 0.34 and 0.80, respectively. A pilot survey showed moderate gene frequency differentiation among meadows (local populations; FLM = 0.1) and among metapopulations c. 30 km apart (FMT = 0.2). Contrary to prior expectation, distinct feeding larval groups collected in the spring did not represent offspring of single females. There was a conspicuous excess of homozygotes within local populations (FIL = 0.35), which can hardly be attributed to population structure alone; this urges caution in straightforward interpretation of microsatellite phenotype data.

Animals↗
PubMed1995

Presymptomatic DNA and MRI diagnosis of neurofibromatosis 2 with mild clinical course in an extended pedigree.

Neurofibromatosis 2 (NF2), a dominantly inherited disorder, typically manifests as bilateral vestibular schwannomas and predisposes to other nervous system tumors. In this study, we present a large pedigree with a benign course of NF2 (mild Gardner type) characterized by slowly growing vestibular schwannomas but few other manifestations. The family was thoroughly investigated with neurologic, ophthalmologic, and neuro-otologic methods including gadolinium-enhanced MRI of the head and spine and DNA linkage analysis. In the clinical analysis of 22 family members, MRI was superior to neuro-otologic methods in the detection of asymptomatic tumors. Based on the DNA linkage analyses we identified the NF2 mutation carriers with a high degree of certainty. These DNA markers (CRYB2, NEFH, D22S268, and D22S280) can also be used for presymptomatic diagnosis in other NF2 families. Early detection of NF2 gene mutation carriers has become possible using linkage analysis in familial NF2. MRI screening of carriers will reveal presymptomatic vestibular schwannomas (and other CNS tumors), making early intervention possible, but an efficient treatment strategy to prevent deafness has not yet been established.

Adult↗