Biomedical subjects

Pentti Nieminen

Publications and source records attributed to Pentti Nieminen.

15 recordsLinked to original sources

PubMed2006

The relationship between quality of research and citation frequency.

BACKGROUND: Citation counts are often regarded as a measure of the utilization and contribution of published articles. The objective of this study is to assess whether statistical reporting and statistical errors in the analysis of the primary outcome are associated with the number of citations received. METHODS: We evaluated all original research articles published in 1996 in four psychiatric journals. The statistical and reporting quality of each paper was assessed and the number of citations received up to 2005 was obtained from the Web of Science database. We then examined whether the number of citations was associated with the quality of the statistical analysis and reporting. RESULTS: A total of 448 research papers were included in the citation analysis. Unclear or inadequate reporting of the research question and primary outcome were not statistically significantly associated with the citation counts. After adjusting for journal, extended description of statistical procedures had a positive effect on the number of citations received. Inappropriate statistical analysis did not affect the number of citations received. Adequate reporting of the primary research question, statistical methods and primary findings were all associated with the journal visibility and prestige. CONCLUSION: In this cohort of published research, measures of reporting quality and appropriate statistical analysis were not associated with the number of citations. The journal in which a study is published appears to be as important as the statistical reporting quality in ensuring dissemination of published medical science.

Bibliometrics↗

PubMed2006

Statistical methodologies in psychopharmacology: a review.

There has been a greatly increased interest in statistical methods in the psychiatric research and its applications over the past few decades, in parallel with advances in computers and statistical software. This review aims to describe the main topics related to statistical methods in psychopharmacology, namely nature of statistics in medicine, problems in data analysis, statistical modelling, developments in statistical technology, statistical reporting and meta-analysis.

Animals↗

PubMed2005

Natural history of familial myomas.

OBJECTIVE: To study the natural history of myomas in familial cases and to compare the tendencies of myomas between familial and non-familial cases. STUDY DESIGN: Subjects with familial and non-familial myomas were identified from the hospital records and the reliable details of the myomas were collected. RESULTS: In the familial cases there are several myomas, four or more. In the non-familial cases, there is usually only one single myoma, which is bigger than in familial cases. In the familial group, the diagnosis and surgery was made earlier. In the familial group, there were more pregnancies and less infertility problems. CONCLUSION: There is a significant difference in the natural history of the familial and non-familial cases. In familial cases, subjects have four or more myomas while in non-familial cases the fibroid is single and large.

Adult↗

PubMed2005

Association of common ATM polymorphism with bilateral breast cancer.

The ATM kinase has an essential role in maintaining genomic integrity. Loss of both ATM alleles results in ataxia-telangiectasia (A-T), a rare autosomal recessive neuroimmunologic disorder associated with cancer susceptibility. Individuals heterozygous for germline ATM mutations have been reported to have an increased risk for malignancy, in particular, female breast cancer. In the current study, a full mutation analysis of the ATM gene was carried out in patients from 121 breast or breast-ovarian cancer families. We discovered that the combination of 5557G-->A in cis position with IVS38-8 T-->C was associated with bilateral breast cancer (OR = 10.2; 95% CI = 3.1-33.8; p = 0.001). As the 5557G-->A change has been reported to affect an exonic splicing enhancer, we hypothesized that the observed composite allele could have some effect on the correct splicing of exon 39. However, no aberrant transcripts were detected, but ATM expression levels of lymphoblast cell lines from heterozygous carriers of this combination allele were lower than from noncarriers (p = 0.09). Lowered gene expression levels may have direct influence on the activities in DNA damage recognition and response pathways, as well as other genome integrity maintenance functions. Based on the results, we propose a cancer risk-modifying effect for the ATM 5557G-->A, IVS38-8T-->C composite allele.

Ataxia Telangiectasia Mutated Proteins↗

PubMed2005

Hereditary hemochromatosis gene (HFE) mutations C282Y, H63D and S65C in patients with idiopathic dilated cardiomyopathy.

BACKGROUND: Hereditary hemochromatosis (HH), a common autosomal recessive disease, leads to excessive iron accumulation in some organs, including the heart. It is therefore not surprising that cardiomyopathy is one of the most severe complications of HH. The HFE gene defects have been thought to contribute to idiopathic dilated cardiomyopathy (IDCM) in some patients, even though the results of genotype analyses have so far been contradictory. Hence we set out here to evaluate the prevalence and potential role of HFE mutations in patients with IDCM. METHODS: A total of 91 IDCM patients and 102 controls were subjected to HFE mutation analyses, in which C282Y, H63D and S65C mutations were determined for each patient. We also analyzed the impact of the C282Y and H63D mutations on the left ventricular end-diastolic diameter (LVEDD), left ventricular ejection fraction (LVEF) and New York Heart Association (NYHA) functional classes. RESULTS: The prevalences of heterozygosity for the C282Y, H63D and S65C mutations in the IDCM patients were 13.2%, 22.0% and 2.2%, respectively. LVEDD was significantly higher (P=0.037) in those with the C282Y mutation at the end of the follow-up period than in those with no mutation. CONCLUSIONS: Our data showed no significant deviations in C282Y, H63D and S65C mutation frequencies between the IDCM patients and controls, suggesting that these mutations do not increase the risk of IDCM. Heterozygosity for the C282Y mutation may nevertheless be a modifying factor contributing to LV dilatation and remodeling.

Adult↗

PubMed2005

Observing relationships in Finnish adoptive families: Oulu Family Rating Scale.

Adoption studies were intended to separate genetic from environmental "causal" factors. In earlier adoption studies, psychiatric diagnostic labels for the adoptive parents were used as a proxy for the multiple dimensions of the family rearing environment. In the Finnish Adoption Study, research design provided the opportunity to study directly the adoptive family rearing environment. For this purpose 33 sub-scales were selected creating what we call Oulu Family Rating Scale (OPAS, Oulun PerheArviointiSkaala). In this paper, the manual for scoring of these sub-scales is presented.

Adoption↗

PubMed2004

Genotype-environment interaction in schizophrenia-spectrum disorder. Long-term follow-up study of Finnish adoptees.

BACKGROUND: Earlier adoption studies have convincingly confirmed the importance of a genetic contribution to schizophrenia. The designs, however, did not incorporate observations of the rearing-family environment. AIMS: To test the hypothesis that genetic factors moderate susceptibility to environmentally mediated risks associated with rearing-family functioning. METHOD: A Finnish national sample of adopted-away offspring of mothers with schizophrenia-spectrum disorders was compared blindly with adoptees without this genetic risk. Adoptive rearing was assessed using family rating scales based upon extended family observations at initial assessment. Adoptees were independently re-diagnosed after a median interval of 12 years, with register follow-up after 21 years. RESULTS: In adoptees at high genetic risk of schizophrenia, but not in those at low genetic risk, adoptive-family ratings were a significant predictor of schizophrenia-spectrum disorders in adoptees at long-term follow-up. CONCLUSIONS: Adoptees at high genetic risk are significantly more sensitive to adverse v. 'healthy' rearing patterns in adoptive families than are adoptees at low genetic risk.

Adolescent↗

PubMed2004

Links between creativity and mental disorder.

A link between mental disorder and decreased ability is commonly assumed, but evidence to the contrary also exists. In reviewing any association between creativity and mental disorder, our aim is not only to update the literature but also to include an epidemiological and theoretical discussion of the topic. For literature retrieval, we used Medline, PsycINFO, and manual literature searches. Studies are numerous: most are empirical, many having methodological difficulties and variations in definitions and concepts. There is little consensus. However, some trends are apparent. We found 13 major case series (over 100 cases), case-control studies, or population-based studies, with valid, reliable measures of mental disorders. The results of all but one of these studies supported the association, at least when concerning particular groups of mental disorders; the findings were somewhat unclear in two studies. Most of the remainder that are not included in our more detailed examination also show a fragile association between creativity and mental disorder, but the link is not apparent for all groups of mental disorders or for all forms of creativity. In conclusion, evidence exists to support some form of association between creativity and mental disorder, but the direction of any causal link remains obscure.

Creativity↗

PubMed2003

Radiologic phenotypes in lumbar MR imaging for a gene defect in the COL9A3 gene of type IX collagen.

PURPOSE: To evaluate whether the COL9A3 tryptophan allele (Trp3 allele) is associated with a specific radiologic phenotype among patients with sciatica. MATERIALS AND METHODS: One hundred fifty-three patients with sciatica were evaluated for the presence of Trp3 allele, Scheuermann disease, intervertebral disk degeneration, Schmorl nodules, dorsal anular tears, hyperintense lesions, and endplate degeneration on sagittal T2-weighted lumbar magnetic resonance images. The Trp3 genotype was determined by means of sequencing the COL9A3 gene. Radiologic phenotypes were evaluated while blinded to the genotype. Scheuermann disease was diagnosed if either endplate irregularities or Schmorl nodules and two of the other three criteria (disk space narrowing, disk dehydration, and wedging of anterior vertebral body margins) were present at three or more adjacent disk levels from T10-11 to L3-4. Disk degeneration was evaluated separately for each disk (T11-12 to L5-S1) and for all disks combined. Frequencies of radiologic phenotypes between individuals with or without Trp3 allele were compared. RESULTS: Thirty-four patients had at least one Trp3 allele. When compared with the matched control subjects, they had an increased likelihood of Scheuermann disease (P =.035) and an increased number of degenerated disks from T11 to S1 (P =.021). Comparisons at individual disks showed a statistically significant increase in disk degeneration at T11-12 (analysis of all grades of degeneration [graded], P =.018; analysis of any degeneration vs none [dichotomous], P =.039) and L4-5 (graded, P =.011; dichotomous, P =.016). Prevalences of anular tears, endplate degeneration, Schmorl nodules, and hyperintense lesions were comparable. CONCLUSION: The results of this study indicate that the presence of Trp3 allele is associated with Scheuermann disease and intervertebral disk degeneration. No associations were found for other radiologic phenotypes.

Collagen Type IX↗

PubMed2003

Clinical utility and outcome of HFE-genotyping in the search for hereditary hemochromatosis.

BACKGROUND: Hereditary hemochromatosis (HH), a disease involving iron accumulation in internal organs, occurs in about 1 in 200-400 Caucasians. The gene mutated in this disorder is termed HFE. The present study was designed to evaluate the diagnostic utility and outcome of genetic testing for HH in the service of public health care. METHODS: 137 subjects were referred by health clinics and general hospitals for HFE genotyping from various parts of Finland during the period 1999-2001. Two major mutations (C282Y and H63D) were determined for each patient. Reasons contributing to referrals and sets of values for serum transferrin saturation (s-TS) and iron and ferritin concentrations were also determined. RESULTS: 16.8% of the subjects were homozygous for the C282Y mutation, together with seven C282Y/H63D compound heterozygotes (5.1%). The rate of positive findings for the most typical mutations responsible for HH was found to have increased steadily during the period 1999-2001. CONCLUSIONS: Our data support a role for active testing for the C282Y and H63D mutations in health care. The fairly low number of genotyping requests nevertheless suggests that a large number of patients even with typical clinical signs or symptoms continue to escape detection.

Adult↗

PubMed2003

Genetic boundaries of the schizophrenia spectrum: evidence from the Finnish Adoptive Family Study of Schizophrenia.

OBJECTIVE: Identification of the genetically related disorders in the putative schizophrenia spectrum is an unresolved problem. Data from the Finnish Adoptive Family Study of Schizophrenia, which was designed to disentangle genetic and environmental factors influencing risk for schizophrenia, were used to examine clinical phenotypes of schizophrenia spectrum disorders in adopted-away offspring of mothers with schizophrenia spectrum disorders. METHOD: Subjects were 190 adoptees at broadly defined genetic high risk who had biological mothers with schizophrenia spectrum disorders, including a subgroup of 137 adoptees at narrowly defined high risk whose mothers had DSM-III-R schizophrenia. These high-risk groups, followed to a median age of 44 years, were compared diagnostically with 192 low-risk adoptees whose biological mothers had either a non-schizophrenia-spectrum diagnosis or no lifetime psychiatric diagnosis. RESULTS: In adoptees whose mothers had schizophrenia, the mean lifetime, age-corrected morbid risk for narrowly defined schizophrenia was 5.34% (SE=1.97%), compared to 1.74% (SE=1.00%) for low-risk adoptees, a marginally nonsignificant difference. In adoptees whose mothers had schizophrenia spectrum disorders, the mean age-corrected morbid risk for a schizophrenia spectrum disorder was 22.46% (SE=3.56%), compared with 4.36% (SE=1.51%) for low-risk adoptees, a significant difference. Within the comprehensive array of schizophrenia spectrum disorders, schizotypal personality disorder was found significantly more often in high-risk than in low-risk adoptees. The frequency of the group of nonschizophrenic nonaffective psychoses collectively differentiated high-risk and low-risk adoptees, but the frequencies of the separate disorders within this category did not. The two groups were not differentiated by the prevalence of paranoid personality disorder and of affective disorders with psychotic features. CONCLUSIONS: In adopted-away offspring of mothers with schizophrenia spectrum disorders, the genetic liability for schizophrenia-related illness (with the rearing contributions of the biological mothers disentangled) is broadly dispersed. Genetically oriented studies of schizophrenia-related disorders and studies of genotype-environment interaction should consider not only narrowly defined, typical schizophrenia but also schizotypal and schizoid personality disorders and nonschizophrenic nonaffective psychoses.

Adoption↗

PubMed2002

Magnetic resonance imaging findings in relation to the COL9A2 tryptophan allele among patients with sciatica.

STUDY DESIGN: The phenotype of patients with sciatica who have the Trp2 allele is characterized cross-sectionally. OBJECTIVE: To determine whether it is possible to differentiate patients with the Trp2 allele clinically or by magnetic resonance imaging. SUMMARY OF BACKGROUND DATA: Several studies have indicated a positive family history for intervertebral disc disease. Previously, a dominantly inherited defect was identified in the COL9A2 gene that changed a codon for glutamine to that for tryptophan in the alpha2 chain of collagen IX (Trp2 allele). This change may render intervertebral discs more fragile. METHODS: Clinical findings, clinical symptoms, and magnetic resonance imaging (1.5-T) findings from 159 patients with sciatica were evaluated according to the presence of the Trp2 allele. Additionally, the magnetic resonance imaging scans of 22 family members from three families were evaluated. These scans were analyzed intervertebral disc and endplate degeneration, Schmorl's nodes, transverse tears (hyperintensity in the region of Sharpey's fibers), high-intensity zone lesions (bright spots in the dorsal anulus), and radial tears (hyperintense linear area from the nucleus to the outer part of the anulus on T2 sequences). RESULTS: Six patients with sciatica and 11 family members had the Trp2 allele. No homozygotes were found. Clinical symptoms of patients with and those without the Trp2 allele were similar. Patients with sciatica who had the Trp2 allele were significantly more flexible (P < 0.05), according to the modified Schober measure. The disc and endplate degeneration in 6 patients with the Trp2 allele and their 18 controls (matched for age, occupation, gender) without the allele did not differ significantly, whereas family members with the Trp2 allele had a greater degree of disc and endplate degeneration at L5-S1. The overall prevalence of endplate degeneration was high in this study. The prevalences of dorsal transverse tears, high-intensity zone lesions, and Schmorl's nodes did not differ among patients with sciatica or family members according to the presence of the Trp2 allele. There was, however, a trend for increased prevalence of radial tears in nonherniated discs among the Trp2 allele-positive subjects (3 of 6 patients with sciatica and 3 of 11 family members), as compared with the Trp2-negatives subjects (none of 18 "matched" patients or 11 family members). CONCLUSION: The patients with the Trp2 allele were more flexible, and more often tended to have a radial tear in a nonherniated disc than their control counterparts.

Adult↗

PubMed2002

Information and communication technology among undergraduate dental students in Finland.

Use of information and communication technology (ICT) is rapidly increasing in medical and dental education. The aim of the present study was to determine the knowledge, skills and opinions of dental undergraduate students regarding ICT and to analyze possible shifts in the acquisition of these resources. For these purposes a survey of all undergraduate dental students at the University of Oulu, Finland, was conducted during the spring term 2000. All the students in the 5 years of study (n = 140) were asked to answer a questionnaire presented during a lecture or demonstration. An overall response rate of 95% was achieved. The frequencies and percentage distributions of the items were analyzed separately for each year (1-5). All the students in the faculty are provided with personal e-mail addresses at the beginning of their studies and special emphasis has been laid on the utilization of their ICT knowledge and skills. An overwhelming majority of the students, more than 95%, judged themselves to have good or satisfactory skills in word processing, but only a slight majority considered that they could manage some advanced operating system functions. Use of ICT services was high, as about 60% of the students used e-mail and one-third WWW services daily. Literature retrieval was widely employed, so that almost 80% of the students had used literature databases (including Ovid Medline and collections of electronic full-text articles), which were introduced and provided by the Medical Library when the students were in their second year. More than 50% had received educational material in electronic form often or sometimes, and almost 80% had communicated by e-mail with a faculty teacher. A clear trend (P < 0.05) was found for the younger students to use ICT services in general and for educational purposes more often than the older ones. In conclusion, e-mail and WWW have been widely adopted for both private and educational purposes by dental students in Finland and are employed together with WWW-based medical and dental publication databases. The younger students have more interest in ICT and better skills, which presents a challenge for dental education in the future.

Computer Literacy↗

PubMed2002

Statistical methodology in general psychiatric journals.

Development of psychiatric research methods requires systematic review of their status. This study describes the frequency with which various statistical research designs and methods are reported in general psychiatric journals. All original research articles in four psychiatric journals in 1996 were reviewed: The American Journal of Psychiatry (AJP), The Archives of General Psychiatry (AGP), The British Journal of Psychiatry (BJP) and the Nordic Journal of Psychiatry (NJP). Evaluation included 448 regular articles, which reported original research findings based on systematic collection and statistical analysis of research data. Aspects measured were research design, statistical methodology, description of procedures and presentation of results. Percentage frequencies of reported statistical procedures were compared between the journals. The policy of determining statistical significance was still the most generally used method of conducting research. Compared to earlier reviews, readers of psychiatric reports in 1996 more frequently encountered computer-dependent multivariate techniques. There were differences in the utilization and reporting of statistical procedures among the journals. The authors of psychiatric journals might apply these results in designing their psychiatric research to present intelligible and compact analysis combined with a high quality presentation technique, thus being in line with the policy and presentation of the leading psychiatric journals.

Cross-Sectional Studies↗

PubMed2002

Use of statistical techniques in studies of suicide seasonality, 1970 to 1997.

The effect of seasons on suicides has been suggested repeatedly. In order to reveal a true seasonal pattern, an appropriate statistical technique, which is sensitive to a specific type of cyclic variation in the data, must be chosen. This study is a review of the use of statistical techniques for seasonality and of some important characteristics of study samples that were evaluated from 46 original suicide seasonality articles published in major psychiatric journals. The results showed that statistical techniques were applied in a majority of articles, but they were commonly lacking regarding analyses, which compared seasonal patterns among subgroups of a population. In recent studies more sophisticated statistical techniques were utilized for seasonality, like spectral analyses, as compared with earlier studies, in which the emphasis was on chi-square tests. Lack of reporting essential features of the data, such as the sample size and monthly values of suicides, were frequent. The calendar effect was adjusted only in 11 studies. Some recommendations concerning the methodological and reporting issues are summarized for future articles on the seasonal affect on suicides.

Bias↗