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Biomedical subjects

H Kuiper

Publications and source records attributed to H Kuiper.

At least 19 recordsLinked to original sources
PubMed2006

Adolescent melanoma: risk factors and long term survival.

AIMS: To report the adolescent melanomas with focus on differences in clinical characteristics, prognostic factors, disease free (DFS) and overall survival (OS) in comparison with adults. METHODS: A single institution retrospective study in which 49 adolescent patients were compared to an adult group of 972 patients. The 10-year DFS, 10-year OS and prognostic factors were calculated for both groups. RESULTS: The median age for the adolescent patients was 17 (range 12-19) years and 49 (range 20-93) years for the adult patients. Median follow-up time was 92 (range 4-366) months. Adolescent patients presented more often with locally advanced melanoma (p<0.01). The median Breslow thickness was 1.6 vs 2.0mm for the adults (p=0.075). Increasing age, ulceration, Breslow thickness, tumour location, male gender and stage at diagnosis were calculated to be negative prognostic factors for the adult group. In the adolescent group, only the stage at diagnosis was a significant negative predictor. The 10-year DFS and OS for the adolescent patients and adult group were not significantly different regarding AJCC stages I-III. CONCLUSION: Although adolescent patients presented more often with locally advanced disease, there are no significant differences in the 10-year DFS and OS between adolescent and adult patients. In our series, we could not confirm the prognostic factors found in the adult group for the adolescent patients, except for the stage at diagnosis.

Adolescent↗
PubMed2006

Molecular characterization of the equine collagen, type IX, alpha 2 (COL9A2) gene on horse chromosome 2p16-->p15.

The mammalian collagen, type IX, alpha 2 gene (COL9A2) encodes the alpha-2 chain of type IX collagen and is located on horse chromosome 2p16-->p14 harbouring a quantitative trait locus for osteochondrosis. We isolated a bacterial artificial chromosome (BAC) clone containing the equine COL9A2 gene and determined the complete genomic sequence of this gene. Cloning and characterization of equine COL9A2 revealed that the equine gene consists of 32 exons spanning approximately 15 kb. The COL9A2 transcript encodes a single protein of 688 amino acids. Thirty two single nucleotide polymorphisms (SNPs) equally distributed in the gene were detected in a mutation scan of eight unrelated Hanoverian warmblood stallions, including one SNP that affects the amino acid sequence of COL9A2. Comparative analyses between horse, human, mouse and rat indicate that the chromosomal location of equine COL9A2 is in agreement with known chromosomal synteny relationships. The comparison of the gene structure and transcript revealed a high degree of conservation towards the other mammalian COL9A2 genes. We chose three informative SNPs for association and linkage disequilibrium tests in three to five paternal half-sib families of Hanoverian warmblood horses consisting of 44 to 75 genotyped animals. The test statistics did not reach the significance threshold of 5% and so we could not show an association of COL9A2 with equine osteochondrosis.

Amino Acid Sequence↗
PubMed2006

The bovine aristaless-like homeobox 4 (ALX4) as a candidate gene for syndactyly.

The ALX4 (aristaless-like homeobox 4) gene encodes a paired-type homeodomain transcriptional activator and plays a major role in anterior-posterior pattern formation during limb development. Here, the cloning, genomic structure and expression of the bovine ortholog of the ALX4 gene are reported. The bovine ALX4 gene consists of four exons and is located on BTA15q28-->q29 in a region syntenic to HSA11p11.2. The transcribed ALX4 mRNA encodes a 397-amino-acid protein showing a paired-type homeodomain and a C-terminal stretch of amino acids known as the OAR- or aristaless domain. The predicted protein shares 92.5% identity to human and mouse ALX4 proteins and all three species share almost complete identity in the conserved domains. ALX4 expression was detected by reverse transcriptase polymerase chain reaction in bovine fetal limb bones. The ALX4 gene was evaluated as a candidate gene for bovine syndactyly which has been mapped on the telomeric region of cattle chromosome 15. Sequencing of the four exons with flanking sequences of the bovine ALX4 gene from a panel of 14 affected animals belonging to German Holstein, German Fleckvieh and crossbreds, and 27 unaffected individuals from German Holstein revealed five silent SNPs within the coding region out of eleven SNPs in total. Four SNPs were polymorphic in the affected animals, but in comparison to the genotyped unaffected individuals the genotype distribution showed no evidence for an association to the phenotype. Therefore our data indicate that the ALX4 gene can probably be excluded as candidate gene for bovine syndactyly in the examined animals.

Amino Acid Sequence↗
PubMed2006

[Aphakia in a German Holstein calf].

Aphakia and further malformations of both eyes were diagnosed in a female German Holstein calf. Besides aphakia of the left eye, the calf exhibited microphthalmia, glaucoma and a hypoplastic uveoscleral tissue. Additional findings in the right eye were buphthalmus and glaucoma. Instead of aphakia, pathohistological and investigations revealed a very small (microphakia) and luxated lens. Neither the clinical nor the pathological examination revealed further malformations of other organs. A BVD infection could be excluded as cause for the ocular malformations observed. A deficiency or excess of vitamine A was unlikely because this would have also applied to all other calves born at the same time on the farm. An inbreeding coefficient of 3.168% for the malformed calf and the exclusion of environmental causes for these malformations of the eyes let us suppose a hereditary problem.

Animals↗
PubMed2005

Skin sensitivity to UVB irradiation in systemic lupus erythematosus is not related to the level of apoptosis induction in keratinocytes.

OBJECTIVES: Accumulation of apoptotic cells has been suggested to be involved in the pathogenesis of systemic lupus erythematosus (SLE). As sunlight exposure is one of the factors that can trigger disease activity, we hypothesized that UV light may induce increased numbers of apoptotic cells in SLE. METHODS: Fourteen SLE patients and 16 controls were irradiated with UVB to determine their minimal erythemal dose (MED). Subsequently, skin was irradiated with 1 MED and 2 MED, respectively, and after 24 h skin biopsies were analysed immunohistologically for the number of apoptotic cells and presence of pyknotic nuclear debris. RESULTS: MED was significantly decreased in SLE patients and the presence of decreased MED was associated with a history of butterfly rash. Decreased MED was not related to other skin-related ACR criteria or to autoantibody specificities. No differences were detected in the numbers of apoptotic keratinocytes between patients and controls or in the amount of pyknotic nuclear debris following 1 and 2 MED irradiation, respectively. Absolute UVB doses were correlated with the number of apoptotic keratinocytes; dose-responses did not differ significantly between patients and controls. CONCLUSIONS: Increased sensitivity of SLE patients to UVB, although associated with a history of malar rash, is not related to increased induction of apoptosis or increased levels of secondary necrosis in the skin. Thus, compared with controls, UVB-induced apoptosis is not increased in SLE patients under physiological conditions.

Adult↗
PubMed2005

A refined radiation hybrid map of the telomeric region of bovine chromosome 18q25-q26 compared with human chromosome 19q13.

Genome-wide scans have mapped economically important quantitative trait loci (QTL) for mastitis susceptibility in dairy cattle at the telomeric end of bovine chromosome 18 (BTA18). In order to increase the density of markers in this chromosomal region and to improve breakpoint resolution in the human-bovine comparative map, this study describes the chromosomal assignment of seven newly developed gene-associated markers and five microsatellites and eight previously mapped sequence tagged site markers near these QTL. The orientation of KCNJ14, BAX, CD37, NKG7, LIM2, PRKCG, TNNT1, MGC2705, RPL28, EPN1, ZNF582, ZIM2, STK13, ZNF132 and SLC27A5 on the 3000-rad radiation hybrid (RH) map of BTA18 is homologous to the organization found on the corresponding 10 Mbp of human chromosome 19q (HSA19q). The resulting bovine RH map with a length of 20.9 cR spans over about 11 cM on the bovine linkage map. The location of KCNJ14 and SLC27A5 flanking the RH map on BTA18q25-26 has been confirmed by fluorescence in situ hybridization. The data of this refined human-bovine comparative map should improve selection of candidate genes for mastitis susceptibility in dairy cattle.

Animals↗
PubMed2005

Molecular cloning, expression analysis and assignment of the porcine tumor necrosis factor superfamily member 10 gene (TNFSF10) to SSC13q34-->q36 by fluorescence in situ hybridization and radiation hybrid mapping.

We have cloned the complete coding region of the porcine TNFSF10 gene. The porcine TNFSF10 cDNA has an ORF of 870 nucleotides and shares 85% identity with human TNFSF10, and 75% and 72% identity with rat and mouse Tnfsf10 coding sequences, respectively. The deduced porcine TNFSF10 protein consists of 289 amino acids with the calculated molecular mass of 33.5 kDa and a predicted pI of 8.15. The amino acid sequence similarities correspond to 86, 72 and 70% when compared with human, rat and mouse sequences, respectively. Northern blot analysis detected TNFSF10-specific transcripts (approximately 1.7 kb) in various organs of a 10-week-old pig, suggesting ubiquitous expression. Real-time RT-PCR studies of various organs from fetal (days 73 and 98) and postnatal stages (two weeks, eight months) demonstrated developmental and tissue-specific regulation of TNFSF10 mRNA abundance. The chromosomal location of the porcine TNFSF10 gene was determined by FISH of a specific BAC clone to metaphase chromosomes. This TNFSF10 BAC clone has been assigned to SSC13q34-->q36. Additionally, the localization of the TNFSF10 gene was verified by RH mapping on the porcine IMpRH panel.

Amino Acid Sequence↗