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Biomedical subjects

J Vilkki

Publications and source records attributed to J Vilkki.

At least 19 recordsLinked to original sources
PubMed2006

Transplantation of normal boar testicular cells resulted in complete focal spermatogenesis in a boar affected by the immotile short-tail sperm defect.

Transplantation of testicular cells, also known as spermatogonial stem cell transplantation, is a relatively new approach in the field of male infertility. We used this technique to determine whether donor-derived sperm production in unrelated porcine recipients is possible following ultrasound-guided transfer of testicular cells. This study was undertaken because we had a strain of Finnish Yorkshire boars with a hereditary recessive gene defect rendering all spermatozoa immotile and anatomically abnormal in homozygous boars. Thus, monitoring of the focal success of colonization of donor spermatogonia with subsequent production of progressively motile spermatozoa was extremely sensitive. Testicular cells from young normal crossbred boars were transplanted into the testes of two boars affected with the immotile short-tail sperm (ISTS) defect. Prior to the transplantations, busulfan was used to suppress recipients' endogenous spermatogenesis. The ejaculates were collected and analysed for the presence of motile spermatozoa. In one of the two recipient boars transplanted with testicular cells from normal donors, motile spermatozoa appeared in the ejaculates 12 weeks after the transplantation. Spermatozoa manually selected under a microscope from a frozen aliquot of ejaculate collected 27 weeks after transplantation were genotyped. In two of the 20 vials the donor-derived genotype was visible. The genotyping results substantiated the success - as indicated by the appearance of motile spermatozoa after the spermatogonial transfer. Thus, donor-derived sperm production in unrelated recipients is possible. In addition, the production after transplantation of progressively motile spermatozoa with normal tail lengths shows that the ISTS defect in Finnish Yorkshire boars apparently results from defective transcription of an essential gene for sperm motility in germline cells. To conclude, the transplantation of donor testicular cells can, at least in boars with the ISTS defect, result in complete focal spermatogenesis.

Animals↗
PubMed2006

Prioritization for conservation of northern European cattle breeds based on analysis of microsatellite data.

Northern European indigenous cattle breeds are currently endangered and at a risk of becoming extinct. We analyzed variation at 20 microsatellite loci in 23 indigenous, 3 old imported, and 9 modern commercial cattle breeds that are presently distributed in northern Europe. We measured the breeds' allelic richness and heterozygosity, and studied their genetic relationships with a neighbor-joining tree based on the Chord genetic distance matrix. We used the Weitzman approach and the core set diversity measure of Eding et al. (2002) to quantify the contribution of each breed to the maximum amount of genetic diversity and to identify breeds important for the conservation of genetic diversity. We defined 11 breeds as a "safe set" of breeds (not endangered) and estimated a reduction in genetic diversity if all nonsafe (endangered) breeds were lost. We then calculated the increase in genetic diversity by adding one by one each of the nonsafe breeds to the safe set (the safe-set-plus-one approach). The neighbor-joining tree grouped the northern European cattle breeds into Black-and-White type, Baltic Red, and Nordic cattle groups. Väne cattle, Bohus Poll, and Danish Jersey had the highest relative contribution to the maximum amount of genetic diversity when the diversity was quantified by the Weitzman diversity measure. These breeds not only showed phylogenetic distinctiveness but also low within-population variation. When the Eding et al. method was applied, Eastern Finncattle and Lithuanian White Backed cattle contributed most of the genetic variation. If the loss of the nonsafe set of breeds happens, the reduction in genetic diversity would be substantial (72%) based on the Weitzman approach, but relatively small (1.81%) based on the Eding et al. method. The safe set contained only 66% of the observed microsatellite alleles. The safe-set-plus-one approach indicated that Bohus Poll and Väne cattle contributed most to the Weitzman diversity, whereas the Eastern Finncattle contribution was the highest according to the Eding et al. method. Our results indicate that both methods of Weitzman and Eding et al. recognize the importance of local populations as a valuable resource of genetic variation.

Animals↗
PubMed2006

ApoE genotype and cognition after subarachnoid haemorrhage: a longitudinal study.

OBJECTIVES: To investigate the effect of the apolipoprotein epsilon4 allele on cognitive functions after aneurysmal subarachnoid haemorrhage (SAH) in a longitudinal study. MATERIALS AND METHODS: Performances of 19 patients with and 27 patients without the epsilon4 allele were compared on eight cognitive test variables measured 1-4.5 years and 12-15 years after SAH. RESULTS: In the baseline examination, epsilon4 patients scored worse than non-epsilon4 patients on verbal fluency (P < 0.05). In the follow-up, a visual memory task and interference in colour naming showed more pronounced impairments from baseline in epsilon4 carriers than in non-carriers. CONCLUSION: Presence of the epsilon4 allele poses a minor risk for late cognitive impairment after the subacute phase of aneurysmal SAH.

Adult↗
PubMed2005

Fishy taint in chicken eggs is associated with a substitution within a conserved motif of the FMO3 gene.

Fishy odor of urine and other secretions is a characteristic of trimethylaminuria in humans, resulting from loss-of-function mutations in the flavin-containing mono-oxygenase isoform FMO3. A similar phenotype exists in cattle, in which a nonsense mutation in the bovine orthologue causes fishy off-flavor in cow's milk. The fishy odor is caused by an elevated level of excreted odorous trimethylamine (TMA), due to deficient oxidation of TMA. We report the mapping of a similar disorder (fishy taint of eggs) and the chicken FMO3 gene to chicken chromosome 8. The only nonsynonymous mutation identified in the chicken FMO3 gene (T329S) changes an evolutionarily highly conserved amino acid and is associated with elevated levels of TMA and fishy taint in the egg yolk in several chicken lines. No differences in the expression of FMO3 were found among individuals with different associated genotypes, indicating that the trait is not caused by a linked polymorphism causing altered expression of the gene. The results support the importance and function of the evolutionarily conserved motif FATGY, which has been speculated to be a substrate recognition pocket of N-hydroxylating siderophore enzymes and flavin-containing mono-oxygenases.

Alleles↗
PubMed2003

Comparison of microsatellite and blood protein diversity in sheep: inconsistencies in fragmented breeds.

Finnsheep, Romanov, Oxford Down and three local breeds from Finland or northwestern Russia were assessed at 15 microsatellite and 7 protein loci. A novel albumin allele was identified. Diversity patterns were mostly concordant between marker types, but discrepancies appeared for the local Viena and Vepsia sheep, both demonstrating frequent linkage disequilibria for both marker types and excess of homozygotes for microsatellites, and in the case of Vepsia also for proteins as signs of breed fragmentation. On the basis of microsatellite data, the neighbour-joining tree and two-dimensional map constructed from DA distances suggested that difference in longitude of breed origin would relate to breed relationship, whereas on the basis of protein data latitude would have this quality. These different impressions resulted because genetic distances involving Vepsia sheep were relatively low for protein variation compared with microsatellites. Microsatellite variation correlated positively with protein variation, but for the local Viena sheep protein variation was comparatively low. Populations had significant differences in allelic richness, but not in genetic diversity. Analysis implied that at least 30 polymorphic loci were needed to detect a difference in diversity between populations using a paired t-test, if the true mean diversity difference was 0.2. In the total sample, proteins demonstrated larger theta-values, but this was reversed for Finnsheep, for which model-based clustering of microsatellite genotypes revealed a structure associated with coat colour. Imported and rare sheep exhibited lowered allelic variability and increased frequency of pairwise disequilibria between unlinked markers. Our results emphasize that more loci are required for studying fragmented breeds.

Albumins↗
PubMed2002

Sex determination of bovine embryo blastomeres by fluorogenic probes.

One of the major challenges of using genetic information in marker assisted selection (MAS) is the detection of multiple marker loci from a small biopsy sample of a preimplantation stage embryo. The objective of this study was to develop a fast, nested, multiplex preamplification, polymerase chain reaction (PCR) method for the determination of sex in bovine embryo blastomeres. For this aim, ZFX/ZFY sequences were preamplified simultaneously with other genomic regions. The preamplification product was used as a template in an allelic discrimination assay, with nested primers and sex specific fluorogenic probes for ZFX and ZFY. Fluorogenic probes were used to eliminate the need for time consuming electrophoresis. Compared to sexing with Bovy/kappa-casein co-amplification method and other replicates from the same embryo, the accuracy of sexing with the use of fluorogenic probes after preamplification was 99% (112/113 blastomeres). The amplification efficiency was 96% (113/117 blastomeres).

Animals↗
PubMed2002

Mapping of quantitative trait loci affecting quality and production traits in egg layers.

A mapping population segregating for egg quality traits was created by a line cross between two egg layer lines and screened by a genome scan. The F2 generation consisted of 307 hens, which were scored for egg quality and production traits. The mapping population was genotyped for 99 microsatellite loci, spanning nine macrochromosomes and five small linkage groups. The linkage maps were used in mapping QTL affecting 14 traits, by using multiple markers and a least-squares approach. We detected 14 genomewide significant and six suggestive QTL that were located on chromosomes 2, 3, 4, 5, and, 8 and sex chromosome Z. A significant QTL affecting egg white thinning was found on chromosome 2. For eggshell strength, a significant QTL was found on chromosome Z. For production traits, the most interesting area was on chromosome 4, where highly significant QTL effects were detected for BW, egg weight, and feed intake in the same area. The most significant QTL explains 25.8% of the phenotypic variance in F2 of body weight. An area affecting the age at first egg, egg weight, and the number of eggs was located on chromosome Z.

Animals↗
PubMed2001

Adverse long-term effects of brain radiotherapy in adult low-grade glioma patients.

OBJECTIVE: To study the long-term effects of radiotherapy on cognitive function in adult patients operated on for low-grade glioma. METHODS: A cohort of 160 patients who underwent surgery for low-grade gliomas of cerebral hemisphere between 1980 and 1992 in a single institution serving a defined population was studied. At a mean follow-up time of 7 years, 28 of the 101 patients who had postoperative irradiation (and no second surgery or chemotherapy) were still alive and eligible for MRI and neuropsychological study. Twenty-three of 59 patients who did not have radiotherapy, second surgery, or chemotherapy were alive and eligible at a mean of 10 years. RESULTS: The group that had postoperative irradiation performed significantly worse than the group that did not in cognitive tests. This difference was not accounted for by histologic diagnosis; location, extent of removal, or progression of the tumor; or any patient factor. Leukoencephalopathy was more severe in the group that had postoperative irradiation than in the group without radiotherapy, and correlated to poor memory performances only in the postoperative radiotherapy group. Average Karnofsky performance scale score was significantly lower in the group that had postoperative irradiation than in the group that did not. CONCLUSION: In adults with low-grade glioma, postoperative radiotherapy poses a significant risk of long-term leukoencephalopathy and cognitive impairment.

Adult↗
PubMed2001

Quantitative trait loci affecting clinical mastitis and somatic cell count in dairy cattle.

Norway has a field recording system for dairy cattle that includes recording of all veterinary treatments on an individual animal basis from 1978 onwards. Application of these data in a genome search for quantitative trait loci (QTL) verified genome-wise significant QTL affecting clinical mastitis on Chromosome (Chr) 6. Additional putative QTL for clinical mastitis were localized to Chrs. 3, 4, 14, and 27. The comprehensive field recording system includes information on somatic cell count as well. This trait is often used in selection against mastitis when direct information on clinical mastitis is not available. The absence of common QTL positions for the two traits in our study indicates that the use of somatic cell count data in QTL studies aimed for reducing the incidence of mastitis should be carefully evaluated.

Animals↗
PubMed2001

Predictors of discharge to home during the first year after right hemisphere stroke.

OBJECTIVES: The aim of this study was to explore predictive factors of the length of hospital stay at the acute stage of right hemisphere stroke. Special attention was paid to the possible role of anosognosia for hemiparesis and anosognosia for neglect in this prediction. PATIENTS AND METHODS: A consecutive series of 57 patients having their first right hemisphere stroke were examined at the acute phase. Forty-nine patients were included in this study and followed-up for 12 months. The examinations were conducted within 2 weeks of onset. The outcome variable was the time (days) from stroke to discharge to home. The predictors were age, gender, size of infarct, neglect, hemiparesis, verbal memory, unawareness of illness, anosognosia for neglect, anosognosia for hemiparesis and presence of a relative at home. RESULTS: Hemiparesis and unawareness of illness lengthened the duration of the hospital stay, the presence of a relative reduced it. Neglect was the best single predictor of poor outcome, but it had no additional value in the combination of the three predictors above. Neither anosognosia for hemiparesis nor anosognosia for neglect were important predictors. CONCLUSION: Hemiparesis, unawareness of illness and presence of a relative at home were the best predictors of the time from right hemisphere stroke to discharge to home.

Activities of Daily Living↗
PubMed2001

Mapping of multiple quantitative trait loci by simple regression in half-sib designs.

Detection of QTL in outbred half-sib family structures has mainly been based on interval mapping of single QTL on individual chromosomes. Methods to account for linked and unlinked QTL have been developed, but most of them are only applicable in designs with inbred species or pose great demands on computing facilities. This study describes a strategy that allows for rapid analysis, involving multiple QTL, of complete genomes. The methods combine information from individual analyses after which trait scores for a specific linkage group are adjusted for identified QTL at other linkage groups. Regression methods are used to estimate QTL positions and effects; permutation tests are used to obtain empirical threshold values. The description of the methods is complemented by an example of the combined analysis of 28 bovine chromosomes and their associations with milk yield in Finnish Ayrshire cattle. In this example, the individual analysis revealed five suggestive QTL affecting milk yield. Following the strategy presented in this paper, the final combined analysis showed eight significant QTL affecting milk yield. This clearly demonstrates the potential gain of using the combined analysis. The use of regression methods, with low demands on computing resources, makes this approach very practical for total genome scans.

Animals↗
PubMed2000

Visual neglect as a predictor of functional outcome one year after stroke.

OBJECTIVE: The aim was to study the role of visual neglect in acute right hemisphere brain infarct as a predictor of poor functional outcome during the first year after stroke. In particular, we were interested in the additional value of neglect measures besides hemiparesis, hemianopia, cognitive deficits and age. PATIENTS AND METHODS: A consecutive series of 57 patients with a neuroradiologically verified right hemisphere infarct was examined within 10 days of the stroke. Fifty patients were followed up for 1 year. Neglect was measured with the Conventional and the Behavioural subtests of the Behavioural Inattention Test (BITC and BITB, respectively). The predictors were determined at the 10-day examination. Functional outcome was assessed 3, 6 and 12 months after the onset with the Frenchay Activities Index. RESULTS: Neglect in BITB was the best single predictor, which together with high age formed the best combination of predictors for poor functional outcome at each follow-up. Hemiparesis was also included in this prediction model at the 3-month follow-up, but hemianopia, BITC, or visuoconstructional and memory deficits showed no additional predictive value. However, neglect usually recovered soon. When neurological and cognitive deficits were assessed at the same time as the outcome, hemiparesis rather than neglect was the strongest correlate of poor outcome. CONCLUSION: Neglect in acute stroke is an important predictor of poor functional recovery. Residual neglect, which could be compensated in the follow-up tests, may nevertheless restrict patients' real-life activities and hobbies.

Acute Disease↗
PubMed2000

Unawareness of deficits after right hemisphere stroke: double-dissociations of anosognosias.

OBJECTIVES: The aim was to study whether anosognosia for hemiparesis, anosognosia for neglect and general unawareness of illness double-dissociate, indicating that anosognosias are specific and independent impairments of awareness. On the other hand, anosognosias may be associated with one another and with general cognitive dysfunction, which decreases awareness of deficits. The persistence and predictive value of anosognosias was examined during a 1-year follow-up. PATIENTS AND METHODS: Fifty-seven consecutive patients with acute right hemisphere infarction underwent neurological and neuroradiological examinations, neuropsychological testing and an interview 10 days, 3 months and 1 year after onset. RESULTS: Anosognosia for neglect and anosognosia for hemiparesis double-dissociated, as did unawareness of illness and anosognosia for neglect. Patients showing unawareness of illness or anosognosia for neglect and anosognosia for hemiparesis had poorer orientation and verbal memory than patients who were aware of these defects. Unawareness of illness and anosognosia for hemiparesis disappeared during 3-month follow-up. CONCLUSION: Double-dissociations demonstrate that anosognosias for different defects are independent and specific impairments of awareness, although general cognitive disorder may also reduce awareness of defects. Unawareness of illness and anosognosia for hemiparesis disappear rapidly and can hardly be direct causes of poor long-term recovery. However, transient anosognosia may be associated with persistent disorders which result in poor outcome.

Aged↗
PubMed1999

A quantitative trait locus for live weight maps to bovine chromosome 23.

A multiple-marker mapping approach was used to search for quantitative trait loci (QTLs) affecting production, health, and fertility traits in Finnish Ayrshire dairy cattle. As part of a whole-genome scan, altogether 469 bulls were genotyped for six microsatellite loci in 12 families on Chromosome (Chr) 23. Both multiple-marker interval mapping with regression and maximum-likelihood methods were applied with a granddaughter design. Eighteen traits, belonging to 11 trait groups, were included in the analysis. One QTL exceeded experiment level and one QTL genome level significance thresholds. Across-families analysis provided strong evidence (P(experiment) = 0.0314) for a QTL affecting live weight. The QTL for live weight maps between markers BM1258 and BoLA DRBP1. A QTL significant at genome level (P(genome) = 0.0087) was mapped for veterinary treatment, and the putative QTL probably affects susceptibility to milk fever or ketosis. In addition, three traits exceeded the chromosome 5% significance threshold: protein percentage of milk, calf mortality (sire), and milking speed. In within-family analyses, protein percentage was associated with markers in one family (LOD score = 4.5).

Alleles↗
PubMed1999

Inaccurate prediction of retrieval in a face matrix learning task after right frontal lobe lesions.

This study partly supports the hypothesis that frontal lobe lesions cause impairment of metamemory. Fifty-nine patients with a focal brain lesion and 21 non-brain-damaged patients memorized a 4 X 4 matrix of 16 faces in 6 consecutive trials and predicted the number of locations of faces they would be able to remember before each retrieval. When age-related impairment of learning was adjusted, the patients with right posterior lesions were inferior to the controls and to the patients with right frontal lesions on the total number of correctly placed faces. The patients with right frontal lesions were less accurate than the patients with right posterior lesions or the controls in the prediction of retrieval. The inaccuracy of retrieval prediction in the face test was associated with that in a word-list learning task.

Adult↗
PubMed1998

Word list learning and prediction of recall after frontal lobe lesions.

The effect of frontal lobe lesions on the accuracy of prediction of recall in a word list learning task was studied. Fifty-nine patients with a focal brain lesion and 21 non-brain-damaged control patients memorized a word list by selective reminding and predicted before each recall trial the number of words they would be able to recall. The patients with left frontal lesions, who were inferior to the patients with right frontal lesions and the control patients in word list recall, overpredicted their recall more than the other brain-damaged patients or the control patients, especially on the 1st trial. The patients with right frontal lesions were less accurate in the prediction of recall than the patients with right posterior lesions or the control patients.

Adult↗
PubMed1998

Polymorphism within the 3' flanking region of the bovine growth hormone receptor gene.

Growth hormone receptor (GHR) has a major role in the regulation of growth hormone action, and thus, is an obvious candidate gene associated with milk production traits in mammals. The present authors have sequenced 273 bp of the 3' flanking region of the bovine GHR, and found three length variants and one base substitution polymorphism in this region. Allele frequencies of the length variants differ between Finnish native and commercial dairy cattle breeds. The chromosomal localization of GHR was confirmed to bovine chromosome 20 by synteny mapping and linkage analysis.

Alleles↗