PubMed Health⌕ Search

Biomedical subjects

O Hellström

Publications and source records attributed to O Hellström.

At least 19 recordsLinked to original sources

BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups.

Experimental and clinical data suggest that genetic variations in brain-derived neurotrophic factor (BDNF) gene may affect risk for Parkinson's disease (PD). We performed a case-control association analysis of BDNF in three independent Caucasian cohorts (Greek, North American, and Finnish) of PD using eight tagging SNPs and five constructed haplotypes. No statistically significant differences in genotype and allele frequencies were found between cases and controls in all series. A relatively rare BDNF haplotype showed a trend towards association in the Greek (p=0.02) and the Finnish (p=0.03) series (this haplotype was not detected in the North American series). However, given the large number of comparisons these associations are considered non-significant. In conclusion, our results do not provide statistically significant evidence that common genetic variability in BDNF would associate with the risk for PD in the Caucasian populations studied here.

Aged↗

Testing association between LRRK2 and Parkinson's disease and investigating linkage disequilibrium.

BACKGROUND: We and others recently identified the gene underlying PARK8 linked Parkinson's disease (PD). This gene, LRRK2, contains mutations that cause an autosomal dominant PD, including a mutation, G2019S, which is the most common PD causing mutation identified to date. Common genetic variability in genes that contain PD causing mutations has previously been implicated as a risk factor for typical sporadic disease. METHODS: We undertook a case-control association analysis of LRRK2 in two independent European PD cohorts using 31 tagging single nucleotide polymorphisms (tSNPs) and five potentially functional SNPs. To assess the structure of this locus in different populations, we have performed linkage disequilibrium (LD) analysis using these variants in a human diversity panel. RESULTS: We show that common genetic variability in LRRK2 is not associated with risk for PD in the European populations studied here. We also show inter-population variability in the strength of LD across this locus. CONCLUSIONS: To our knowledge this is the first comprehensive analysis of common variability within LRRK2 as a risk factor for PD.

Adult↗

Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts.

BACKGROUND: The overlap in the clinical and pathological features of tauopathies and synucleinopathies raises the possibility that the tau protein may be important in Parkinson's disease (PD) pathogenesis. Several MAPT polymorphisms that define the tau H1 haplotype have been investigated for an association with PD with conflicting results; however, two meta-analyses support an association between haplotype H1 and PD. METHODS: In this study, we recruited 508 patients and 611 healthy controls from Greek, Finnish and Taiwanese populations. We examined the possible genetic role of variation within MAPT in PD using haplotype-tagging single polymorphisms (SNPs) in these ethnically different PD populations. RESULTS: We identified a moderate association at SNP rs3785883 in the Greek cohort for both allele and genotype frequency (p = 0.01, p = 0.05, respectively) as well as for SNP rs7521 (genotype p = 0.02) and rs242557 (p = 0.01 genotypic, p = 0.04 allelic) in the Finnish population. There were no significant differences in genotype or allele distribution between cases and controls in the Taiwanese cohort. CONCLUSION: We failed to demonstrate a consistent association between the MAPT H1 haplotype (delineated by intron 9 ins/del) and PD in three ethnically diverse populations. However, the data presented here suggest that subhaplotypes of haplotype H1 may confer susceptibility to PD, and that either allelic heterogeneity or different haplotype composition explain the divergent haplotype results.

Adult↗

Confirmation of the protective effect of iNOS in an independent cohort of Parkinson disease.

Nitric oxide is a biologic messenger molecule involved in a diverse range of physiologic processes. An exon 22 inducible nitric oxide synthase genotype has recently been reported to be protective against Parkinson disease in a European cohort. The authors confirm the protective effect of this genotype (OR = 0.5, 95% CI 0.27 to 0.93) in an independent Finnish case-control series.

Adult↗

Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD.

Mutations in DJ-1 are a cause of autosomal recessive parkinsonism. Polymorphism of genes implicated in hereditary forms of parkinsonism may be a predisposing factor in sporadic Parkinson's disease (PD). The authors analyzed whether a polymorphism (g.168_185del) within exon 1 of DJ-1 contributes to the risk of sporadic PD in a Finnish case-control series. This gene does not play a major role in the genetic predisposition to PD in this population.

Adult↗

Apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes and susceptibility to sporadic Parkinson's disease in Finland.

Recent studies have demonstrated that genetic factors modify susceptibility to sporadic Parkinson's disease (PD). So far the results of candidate gene studies have been conflicting. It has been suggested that polymorphisms in apolipoprotein E (APOE), PARKIN and catechol-O-methyltransferase (COMT) genes might increase the risk of PD. We studied 147 Finnish non-demented patients with sporadic PD and 137 controls. APOE epsilon allele and genotype frequencies in PD patients did not differ significantly from controls. Three single nucleotide polymorphisms of the PARKIN gene and an intronic and an exonic (Val158Met) polymorphism of the COMT gene were studied. None of these polymorphisms showed association with PD in our series. In contrast to reports in oriental populations, our results do not support a major role of APOE, PARKIN and COMT polymorphisms in PD susceptibility in the Finnish population.

Adult↗

A phenomenological study of fibromyalgia. Patient perspectives.

OBJECTIVE: To describe the way in which the fibromyalgia patients understand the meaning of their illness. DESIGN: Qualitative, empirical phenomenological psychological method. SETTING: A collaborative transdisciplinary interview study of patients' described experiences of living with fibromyalgia. No therapeutic relationships existed between patients and researchers. SUBJECTS: Eighteen patients with fibromyalgia were interviewed. Ten of the 18 taped interviews were transcribed and analysed. MAIN OUTCOME MEASURES: Patients' narratives, described experiences of living with fibromyalgia. RESULTS: The patients were intensively involved in efforts to get their self-images as ill persons confirmed. Their experience was that the disease started dramatically, with a variety of capriciously appearing symptoms of unknown cause that gave rise to the suffering. The fibromyalgia patients seemed to develop strategies to cope with a precarious self-image and find ways to manage the thought of what the future would bring. CONCLUSION: The meaning structures revealed in the patients' ways of describing their experiences of living with fibromyalgia seemed to be partially constituted by their efforts to stand forth as afflicted with a disease, which could be a way to help them to manage the demands that they placed upon themselves.

Adaptation, Psychological↗

A phenomenological analysis of doctor-patient interaction: a case study.

The fact that the biomedical model has been very successful in practice does not preclude that some health issues can be understood by way of other health care perspectives. Acquiring skills in meeting patients requires theories that structure other fields of knowledge than the biomedical sciences. An old man, who experiences himself as deeply misunderstood by the medical profession, is interviewed, his personal life-story is gone into and his case records and other available data are analysed. A phenomenological method is used, i.e. disciplined and rigorous reflection upon available data, remaining close to the particular pieces of the patient's narrative as they stand forth in their contextual relationships. The study shows that the doctors involved did not relate to the patient but to a biomedical image of him. His efforts to make himself understood were converted into instrumentally manageable disorders. Finally, dialogue medicine is briefly introduced as a model for counselling patients, especially when they need assistance to abandon the notion that they have been afflicted with a disease, a perception that might serve the purpose of keeping a threatening self-image out of consciousness.

Aged↗

Dialogue medicine: a health-liberating attitude in general practice.

Dialogue medicine is presented as the prime means of understanding patients' illnesses. It is a practical attitude especially aimed to assist or inspire patients to consider, see and manage their illness-demanding efforts to unwittingly suppress or disguise such self-reproaching thoughts as are worse to bear than the feeling of being afflicted with disease. Along with diagnosing patients' perceived bodily disorders, doctors can choose to see them as persons whose ailments stand for efforts to manage their existence as communicative human beings. The core of the paper is an encounter between the author and a female patient which illuminates the usefulness of genuine dialogue in medical practice. The paper illustrates how the dialogical attitude helps patients to see and manage their difficult life-situations and how the doctor can be inspired to change and develop and improve his/her skills as a dialogue partner. Doctors' dialogical attitude in the encounter encompasses for example openness, empathy, sensitivity, courage, attentiveness and responsiveness, accompanied by concern, trust, respect, affection, appreciation and hope. The philosophical and theoretical foundations of the concept of dialogue medicine are sketched out and some practically significant traits are described.

Adaptation, Psychological↗

Doctors' attitudes to fibromyalgia: a phenomenological study.

Besides specific technical skills, successful encounters with patients require an understanding of the many ways in which patients may express themselves. This qualitative study reports on the clinical experiences of doctors when meeting patients with fibromyalgia (FM). Ten strategically chosen rheumatologists and 10 GPs in central Sweden were interviewed. The interviews were taped, transcribed and analysed in accordance with the empirical, phenomenological, psychological method. The analyses indicate that doctors try to comply with the wishes and demands of patients, and at the same time avoid perceptions of personal frustration. They are inclined to be objective and to act instrumentally, apparently in order to keep in touch with what gave biomedical meaning to an otherwise incomprehensible phenomenon. The meaning structures revealed by doctors' descriptions of FM and of relating to FM patients were characterized mainly by the way in which the doctors were (i) managing their clinical uncertainty, (ii) adhering to the biomedical paradigm, (iii) prioritizing diagnostics, (iv) establishing an instrumental relationship, and (v) avoiding recognizing FM as a possible biomedical anomaly.

Adult↗

The importance of a holistic concept of health for health care. Examples from the clinic.

One of my main points in this study is that the knowledge of orthodox medical theory is an incomplete guide for practical action when relating to our patients' specifically human problems. By following a holistic perspective on patients' health and on our medical enterprise we will be more efficient as doctors. This standpoint is illuminated by means of two case reports. Instead of focusing on symptoms as such and letting them refer to orthodox medical theory, I explicitly relate to the patients as if they are conveying a personal meaning by means of experienced symptoms. The experience of illness could be a successful strategy on the existential level although destructive on the technical biological level. A holistic theory of health can give doctors a good conceptual base when relating to people whose presented illnesses are to be regarded explicitly as their way of making themselves understood. The doctor's understanding of the patient's illness, of the theory of health, and of how health is regained, is dependent on the doctor's having the courage to reduce the distance to the patient, the courage to participate and be changed.

Adult↗