bluuebunny/crossref_metadata_2025 huggingface dataset:
Mapping and characterization of the mouse and human SS18 genes, two human SS18-like genes and a mouse Ss18 pseudogene
Authors: de Bruijn D.R.H. , Kater-Baats E. , Eleveld M. , Merkx G. , Geurts van Kessel A.
Published: April 2003

We have previously isolated and characterized a mouse cDNA orthologous to the human synovial sarcoma associated SS18 (formerly named SSXT and SYT) cDNA. Here, we report the characterization of the genomic structure of the mouse Ss18 gene. Through in silico methods with sequence information contained in the public databases, we did the same for the human SS18 gene and two human SS18 homologous genes, SS18L1 and SS18L2. In addition, we identified a mouse Ss18 processed pseudogene and mapped it to chromosome 1, band A2-3. The mouse Ss18 gene, which is subject to extensive alternative splicing, is made up of 11 exons, spread out over approximately 45 kb of genomic sequence. The human SS18 gene is also composed of 11 exons with similar intron-exon boundaries, spreading out over about 70 kb of genomic sequence. One alternatively spliced exon, which is not included in the published SS18 cDNA, corresponds to a stretch of sequence which we previously identified in the mouse Ss18 cDNA. The human SS18L1 gene, which is also made up of 11 exons with similar intron-exon boundaries, was mapped to chromosome 20 band q13.3. The smaller SS18L2 gene, which is composed of three exons with similar boundaries as the first three exons of the other three genes, was mapped to chromosome 3 band p21. Through sequence and mutation analyses this gene could be excluded as a candidate gene for 3p21-associated renal cell cancer. In addition, we created a detailed BAC map around the human SS18 gene, placing it unequivocally between the CA-repeat marker AFMc014wf9 and the dihydrofolate reductase pseudogene DHFRP1. The next gene in this map, located distal to SS18, was found to be the TBP associated factor TAFII-105 (TAF2C2). Further analogies between the mouse Ss18 gene, the human SS18 gene and its two homologous genes were found in the putative promoter fragments. All four promoters resemble the promoters of housekeeping genes in that they are TATA-less and embedded in canonical CpG islands, thus explaining the high and widespread expression of the SS18 genes.
C18orf2, a novel, highly conserved intronless gene within intron 5 of the GNAL gene on chromosome 18p11
Authors: Vuoristo J.T. , Berrettini W.H. , Ala-Kokko L.
Published: April 2003

We have characterized a novel intronless human gene (C18orf2) which is embedded in intron 5 of the G-protein gene (GNAL) on chromosome 18p11. This gene codes for a 199 amino acid polypeptide with a predicted molecular weight of 22.1 kDa. It is highly homologous to a number of predicted developmental proteins in organisms ranging from yeasts to Drosophila. C18orf2 mRNA was found to be expressed in various tissues.
A physical and expression map of the D17S1810–D17S1353 region spanning the central areolar choroidal dystrophy locus
Authors: Lichanska A.M. , McGibbon D. , Silvestri G. , Hughes A.E.
Published: April 2003

Central areolar choroidal dystrophy (CACD) causes bilateral irreversible central visual loss in the 5th to 7th decades. The authors previously described a large pedigree with the disorder, which showed linkage to chromosome 17p13.2→p13.1 between microsatellite markers D17S1353 and D17S1810. 17p13 is very rich in genes that cause retinal diseases. We have now constructed a detailed and ordered physical map of the critical CACD region which spans up to 2.4 Mb. The new transcript map contains thirteen genes and seven expressed sequence tags (ESTs) that are eye-expressed, and therefore are positional candidates. Several of these have been screened, but no disease-causing mutations were found in CACD patients.
Chromosomal and comparative mapping of rat oxytocin, oxytocin receptor and vasopressin genes
Authors: Dutil J. , Moujahidine M. , Lemieux C. , Jankowski M. , Gutkowska J. , Deng A.Y.
Published: April 2003

Oxytocin and its receptor are potentially important for cardiovascular functions. In the present paper, we report their chromosome locations in the rat and their comparative mapping with the mouse and human. They are located in chromosome regions previously known to contain quantitative trait loci for blood pressure in various genetic crosses. Thus, they have become valid candidate genes for genetic hypertension.
Genomic organization and assignment of the interleukin 7 gene (IL7) to porcine chromosome 4q11→q13 by FISH and by analysis of radiation hybrid panels
Authors: Uenishi H. , Hiraiwa H. , Sawazaki T. , Kiuchi S. , Yasue H.
Published: April 2003

Interleukin 7 (IL7) is a cytokine that has many immunological functions, including regulation of hematopoiesis and peripheral lymphocytes. cDNA and a genomic DNA segment containing the porcine IL7 gene were isolated and sequenced, showing that porcine IL7 consists of 176 amino acids and that its gene spans over about 13 kb of genomic DNA. Porcine IL7 has 85% and 73% homology with human IL7 in terms of the nucleotide and amino acid sequences, respectively. Whereas the murine IL7 gene does not have an exon corresponding to human exon 5 (Lupton et al., 1990), the porcine IL7 gene was found to contain the same exon-intron structure as the human gene. These findings, together with the upstream structure of the cDNA elucidated in the present study, indicate that the relationship between swine and human IL7 is closer than that between mouse and human IL7. The IL7 gene was mapped to swine chromosome 4q11→q13 by fluorescence in situ hybridization and, using a radiation hybrid panel, was localized between microsatellite markers Sw1336 and Sw1073 on the same chromosome.
DNA sequence and physical mapping of the canine transglutaminase 1 gene
Authors: Credille K.M. , Venta P.J. , Breen M. , Lowe J.K. , Murphy K.E. , Ostrander E.A. , Galibert F. , Dunstan R.W.
Published: April 2003

The transglutaminase 1 gene (TGM1) encodes an enzyme necessary for cross-linking the structural proteins that form the cornified envelope, an essential component of the outermost layer of the skin, the stratum corneum. Reported here is the complete coding region of canine TGM1, its chromosome localization, and its map position in the integrated canine linkage-radiation hybrid map. Canine TGM1 consists of 2,448 nucleotides distributed over 15 exons. The nucleotide sequence has 90% identity to human TGM1. The deduced canine TGM1 protein is 816 amino acids long and is 92% identical to human TGM1. Using fluorescence in situ hybridization, we localized canine TGM1 to dog (Canis familiaris) chromosome 8 (CFA 8q). Canine TGM1 localized to CFA 8 on the integrated linkage-radiation hybrid map in the interval FH2149–MYH7. Characterizing the coding region of canine TGM1 is a first step in examining the role of this enzyme in normal and defective cornification in the dog.
Twelve loci from HSA10, HSA11 and HSA20 were comparatively FISH-mapped on river buffalo and sheep chromosomes
Authors: Iannuzzi L. , Gallagher D.S. , Di Meo G.P. , Schlapfer J. , Perucatti A. , Amarante M.R.V. , Incarnato D. , Davis S.K. , Taylor J.F. , Womack J.E.
Published: April 2003

Ten type I loci from HSA10 (IL2RA and VIM), HSA11 (HBB and FSHB) and HSA20 (THBD, AVP/OXT, GNAS1, HCK and TOP1) and two domestic cattle type II loci (CSSM30 and BL42) were FISH mapped to R-banded river buffalo (BBU) and sheep (OAR) chromosomes. IL2RA (HSA10) maps on BBU14q13 and OAR13q13, VIM (HSA10) maps on BBU14q15 and OAR13q15, HBB (HSA11) maps on BBU16q25 and OAR15q23, FSHB (HSA11) maps on BBU16q28 and OAR15q26, THBD (HSA20) maps on BBU14q15 and OAR13q15 while AVP/OXT, GNAS1, HCK, and TOP1 (HSA20) as well as CSSM30 and BL42 map on the same large band of BBU14q22 and OAR13q22. All loci were mapped on the same homologous chromosomes and chromosome bands of the two species, and these results agree with those earlier reported in cattle homologous chromosomes 15 and 13, respectively, confirming the high degree of both banding and physical map similarities among the bovid species. Indirect comparisons between physical maps achieved on bovid chromosomes and those reported on HSA10, HSA11 and HSA20 were performed.
Centromere and telomere redistribution precedes homologue pairing and terminal synapsis initiation during prophase I of cattle spermatogenesis
Authors: Pfeifer C. , Thomsen P.D. , Scherthan H.
Published: April 2003

Alterations in nuclear topology associated with meiotic chromosome pairing were studied in premeiotic cells and spermatocytes I of adult bovine males. To this end, we performed FISH with chromosome, pericentromeric satellite-DNA and telomere-specific probes in combination with immunostaining of synaptonemal complex proteins (SCP3, SCP1) on testis tissue sections. Nuclei of premeiotic cells (spermatogonia) exhibited a scattered telomere distribution while pericentromeres formed a few intranuclear clusters. We observed that the chromosome pairing process in cattle prophase I is preceded by repositioning of centromeres and telomeres to the nuclear periphery during preleptotene. Clustering of chromosome ends (bouquet formation) was observed during the transition from leptonema to zygonema and coincided with pairing of a sub-centromeric marker of bovine chromosomes 7. Dissolution of bouquet topology during zygonema left perinuclear telomeres scattered over the nuclear periphery at pachynema. SCP3 staining in frozen tissue sections revealed the appearance of this axial element protein in intranuclear aggregates during preleptotene, followed by extensive axial element formation during leptotene. Synapsis as revealed by SCP1 staining initiated peripherally at earliest zygotene, at this stage nuclei still contained numerous SCP3 clusters. Our observations reveal prominent non-homologous satellite-DNA associations in spermatogonia and indicate the conservation of topological features of the meiotic chromosome pairing process among mammals. The comparison of telomere dynamics in mouse and cattle prophase I suggests that a larger number of chromosomes prolongs the duration of the bouquet stage.
Detection of microdeletions in the short arm of the X chromosome by chromosome stretching
Authors: Kuechler A. , Mueller C.R. , Liehr T. , Claussen U.
Published: April 2003

The present study was focused on the resolution of “chromosome stretching”. In order to determine if this method can be used for the detection of microdeletions, the p-arms of 13 normal X chromosomes were stretched as well as of those with three different deletions of known size within the DMD/BMD region in Xp21 (case A: 0.42–0.45 Mb, case B: 2.3–2.9 Mb and case C: 3.0–3.5 Mb). The process of band splitting was recorded on a video-tape and the resulting banding pattern analyzed. Stretching of the normal Xp-arms led to a splitting on a maximum band level of 1400 and showed in all cases an identical banding pattern with 13 Giemsa-dark subbands. All new Giemsa-dark and -light subbands were derived from the three initial Giemsa-dark bands at the 400 band level according to ISCN (1995): five subbands from Xp21, four subbands from Xp11.3 and Xp22.2, respectively. The origin of these subbands is partly in contrast to the high resolution ISCN (1995) ideograms: subband Xp11.22 does not originate from the Giemsa-light band Xp11.2, but from the Giemsa-dark band Xp11.3; Xp22.12 originates from Xp21; Xp22.32 from Xp22.2. Stretching of the chromosomes containing deletions showed in cases A and B no differences in banding patterns and splitting order compared to normal X chromosomes. Only in patient C was a significant difference with the normal pattern visible due to the absence of one dark subband. In this case only four Giemsa-dark subbands derived from band Xp21. Thus, at least in the DMD/BMD region, the minimal size of a deletion detected by chromosome-stretching-generated high-resolution ideograms is about 3.0–3.5 Mb.
Intragenic breakpoint within RAD51L1 in a t(6;14)(p21.3;q24) of a pulmonary chondroid hamartoma
Authors: Blank C. , Schoenmakers E.F.P.M. , Rogalla P. , Huys E.H.L.P.G. , van Rijk A.A.F. , Drieschner N. , Bullerdiek J.
Published: April 2003

Rearrangements involving chromosome region 14q23→q24 represent a main cytogenetic subgroup in a variety of benign solid tumors. Recently, in uterine leiomyomas containing the classical t(12;14)(q15;q23→q24), the primary chromosome 14 target gene was identified as the protein kinase-encoding gene RAD51L1. In this report we show that RAD51L1 is also involved in the frequently ocurring t(6;14) (p21;q23→q24) in pulmonary chondroid hamartomas.
Characterization of two novel genes, WBSCR20 and WBSCR22, deleted in Williams-Beuren syndrome
Authors: Doll A. , Grzeschik K.-H.
Published: April 2003

Williams-Beuren syndrome (WBS), due to a contiguous gene deletion of approximately 1.5 Mb at 7q11.23, is a complex developmental disorder with multisystemic manifestations including supravalvular aortic stenosis (SVAS) and a specific cognitive phenotype. Large repeats containing genes and pseudogenes flank the deletion breakpoints, and the mutation mechanism commonly appears to be unequal meiotic crossover. Except for elastin, hemizygosity of which is associated with supravalvular aortic stenosis, it is unknown which of the 18 genes in the deletion area contributes to the phenotype. Here, we report the identification and characterization of two novel genes, WBSCR20 and WBSCR22, which map to the common WBS deletion region. WBSCR22 encodes a putative methyltransferase protein strongly expressed in heart, skeletal muscle and kidney. WBSCR20 encodes a novel protein expressed in skeletal muscle with similarity to p120 (NOL1), a 120-kDa proliferation-associated nucleolar antigen, a member of an evolutionarily conserved protein family. A highly similar putative gene, WBSCR20B, flanks the WBS deletion at the telomeric side. Hemizygous deletion of either of the novel genes might contribute to the growth retardation, the myopathy or the premature aging effects in the pathogenesis of WBS.
Human ribonucleotide reductase M2 subunit gene amplification and transcriptional regulation in a homogeneous staining chromosome region responsible for the mechanism of drug resistance
Authors: Zhou B. , Mo X. , Liu X. , Qiu W. , Yen Y.
Published: April 2003

In our previous publication it was shown that a Gemcitabine-resistant KBGem clone derived from step-wise exposure to Gemcitabine resulted in overexpression of the human Ribonucleotide Reductase M2 subunit (hRRM2) mRNA and protein (Goan et al., 1999). In this study we confirm these results and show that the hRRM2 gene amplification arises in a homogeneous staining region (hsr) derived from chromosome translocation. The hydroxyurea-resistant clone (KBHURs) was studied as a comparison. PCR analysis of the hRRM2 gene promoter confirmed the amplification. Northern and Western blots were further employed to confirm the gene amplification and hRRM2 mRNA and protein expression were compatible with the level of drug resistance. Cells synchronized by serum starvation and then returned to serum-containing growth conditions showed a rapid induction of high levels of transcription of the hRRM2 gene. To clarify whether expression of hRRM2 mRNA was regulated at a transcriptional level, several transcription factors, including AP-1, Sp1, AP-2, CREB, NF-ĸB, and OCT1, were examined by gel-shift assay. Interestingly, the KBGem clone was regulated by different transcription factors than the KBHURs clone. Compared to the wild-type KB cells (KBwt), the KBGem clone exhibited a different binding pattern for Sp1 and NF-ĸB. The KBHURs clone, however, demonstrated a unique binding pattern with AP-1 and CREB, different from the KBwt control as well as the KBGem clone. Therefore, we conclude that the drug-resistant phenotype is associated with human RRM2 gene amplification from a homogeneous staining chromosome region and altered transcription regulation. Each clone demonstrated a unique pattern of transcription factor binding that may play a vital role in the mechanism of drug resistance.
The assignment of PRKCI to bovine chromosome 1q34→q36 by FISH suggests a new assignment to human chromosome 3
Authors: De Donato M. , Gallagher Jr. D.S. , Davis S.K. , Stelly D.M. , Taylor J.F.
Published: April 2003

Two bovine BAC clones were identified by PCR as containing the bovine gene PRKCI. Both clones were assigned by FISH to bands q34→q36 on BTA1. The sequence information derived from genomic DNA and from both clones was identical and showed a high degree of homology to human PRKCI (HSAXq21.3, 95.5% homology), and mouse Prkcl (MMU3, 13.8 cM, 87.6% homology) and rat Prkcl (88.8% homology). This assignment could suggest a disruption of the synteny conservation of mammalian X-linked genes, but most likely suggests a misassignment of this gene to the human X.
Understanding Developmental Regulation in Adolescence: The Use of the Selection, Optimization,and Compensation Model
Authors: Lerner Richard M. , Freund Alexandra M. , De Stefanis Imma , Habermas Tilmann
Published: April 2003

Scholarship pertinent to the nature of human plasticity and the contemporary theoretical stress on developmental systems theories suggest that the regulation of dynamic person-context relations should be the key focus of inquiry in the study of adolescent development. An exemplar of a theory congruent with this relational conception of adolescent development is the Selection, Optimization, and Compensation (SOC) model offered by Baltes, Baltes, and colleagues. The model may be a value-added contribution to the adolescent literature in several respects: through illustrating the centrality of selection, optimization, and compensation processes in conceptualizing the regulation of the person-context relations that characterize development in adolescence; by integrating key themes within the adolescent development theoretical and empirical literatures; and through suggesting ideas for extending these literatures in new and useful ways, including needed directions for research and applications to policies and programs that are aimed at enhancing adaptive regulation in adolescence. We illustrate these value-added contributions of the SOC model by focusing on theory and research pertinent to arguably the central construct in the study of adolescence, identity. In addition, we discuss the implications of the SOC model for using developmental systems theory to understand the relation between individual development and social constraints or opportunities. The methodological features of research using the SOC model are noted, and its implications for both the development of the person and for the maintenance and perpetuation of civil society are presented.
Modification of Lipoproteins in Uremia: Oxidation, Glycation and Carbamoylation
Authors: Galle Jan , Wanner Christoph
Published: April 2003

Lipoprotein modification occurs in uremic patients and in patients with end stage kidney disease under chronic renal replacement therapy. Forms of lipoprotein modification include lipid peroxidation, glycation, and carbamoylation. In this short review, we discuss the presence of these forms of lipoprotein modification and their association with various renal diseases. Methods to analyze lipoprotein modification are introduced, and functional consequences related to vascular and renal function are presented.
Oxidative Stress and Cardiovascular Disease in Dialyzed Patients
Authors: Usberti Mario , Gerardi Gian Mario , Gazzotti Rosa Maria , Benedini Stefania , Archetti Silvana , Sugherini Lidia , Valentini Melissa , Tira Paola , Bufano Giuseppe , Albertini Alberto , Di Lorenzo Diego
Published: April 2003

Background/Aim: Oxidative damage has been suggested to play a key role in accelerated atherosclerosis and to be involved in cardiovascular disease (CVD) of dialyzed patients who are at risk of increased oxidative stress. The purpose of the present study was to examine the relationship between the severity of CVD and some markers of oxidative stress and antioxidant activity in our hemodialyzed (HD) and peritoneal dialysis (PD) patients. Methods: Plasma reactive oxygen metabolites, malondialdehyde and 4-hydroxynonenal (MDA-4HNE), thiols, α-tocopherol, and total antioxidant status (TAS) were measured in 55 HD and in 16 PD patients. CVD was considered as the result of variably combined cardiac, cerebral, and vascular pathologies which were scored and grouped in a single CVD index and analyzed with respect to the markers of the oxidative status. 16 normal subjects served as controls. Results: All patients showed evidence of increased oxidative stress which was more severe in HD than in PD patients and which was exacerbated by HD. When cardiac, cerebral, and vascular diseases were analyzed separately, plasma MDA-4HNE and TAS were significantly higher in more severely affected HD patients, but not in PD patients. In HD patients the CVD index was directly correlated with both MDA-4HNE and TAS (r = 0.42, p < 0.01; r = 0.39, p < 0.01) and inversely correlated with α-tocopherol (r = –0.32, p < 0.05). MDA-4HNE and TAS were directly correlated in HD patients and inversely correlated in control subjects. Conclusions: Our data show that, in spite of increased antioxidant defense, there is a relationship between the degree of lipid peroxidation and the severity of CVD in HD patients. Moreover, these data underscore the utility of MDA-4HNE, α-tocopherol, and TAS in the evaluation of cardiovascular disease.
Subtotal Nephrectomy Stimulates Cyclooxygenase 2 Expression and Prostacyclin Synthesis in the Rat Remnant Kidney
Authors: Horiba Naoshi , Kumano Eiichi , Watanabe Takeshi , Shinkura Hirofumi , Sugimoto Tetsuro , Inoue Makoto
Published: April 2003

Background: Recently, two isoforms of cyclooxygenase (COX) have been identified, a constitutive form (COX-1) and a mitogen-inducible form (COX-2). Several studies have suggested that COX is activated in renal insufficiency, but little is known about the relationship between progression of renal insufficiency and the COX isoforms. Methods: Five-sixths-nephrectomized (NX) rats were used. 4, 8, and 12 weeks after nephrectomy, the renal cortical prostaglandin contents and the expression levels of the two isoforms of COX were determined by enzyme immunoassay and Western-blotting, respectively. The localization of COX was examined by immunohistochemistry. Results: Renal cortical prostacyclin (PGI2) and COX-2 were significantly upregulated 8 and 12 weeks after NX, while COX-1 remained at the basal level. There was a high correlation between COX-2 and creatinine clearance (r = –0.845). There was also a high correlation between COX-2 and PGI2 (r = 0.816). Immunohistochemistry revealed the expression of COX-2 to be enhanced in the macula densa in NX rats. Conclusions: Renal cortical COX-2 and prostacyclin were upregulated corresponding to the progression of renal insufficiency in NX rats. These results suggest enhancement of COX-2 expression in the macula densa, perhaps stimulated by a decrease in renal blood flow which upregulates PGI2 synthesis to protect the kidney from ischemia in renal insufficiency.
Management of Essential Thrombocythemia during Pregnancy with Aspirin, Interferon Alpha-2a and No Treatment
Authors: Vantroyen B. , Vanstraelen D.
Published: April 2003

It is advisable to treat essential thrombocythemia (ET) during pregnancy, because elevated platelet counts can lead to maternal and fetal complications. In order to establish which therapy is more favorable, we undertook a review of the literature. In addition to our own case, we found 27 reports which described 75 cases with 143 pregnancies. We discussed the complications of ET during pregnancy and postpartum, fetal outcome and the therapeutic strategies. Considering the clear risk of complications during pregnancy – especially the occurrence of spontaneous abortion in the first trimester – and the risk of intrauterine fetal death, we believe all patients should at least be treated with aspirin unless there is a contraindication. Platelet reduction with interferon-α (IFN-α) might be able to further reduce the complications of ET during pregnancy and to improve fetal outcome (data from 14 patients). After treatment with IFN-α, sufficient numbers of umbilical cord blood stem cells can be collected.
Effect of Vegetarian Diet on Homocysteine Levels
Authors: Bissoli L. , Di Francesco V. , Ballarin A. , Mandragona R. , Trespidi R. , Brocco G. , Caruso B. , Bosello O. , Zamboni M.
Published: April 2003

Objective: To compare fasting total plasma homocysteine (tHcy) levels in vegans, lacto-ovovegetarians and control subjects, and to evaluate the relationships between tHcy levels and nutritional variables in vegetarians. Methods: The study was conducted on 45 vegetarian subjects: 31 vegans (19 males, 12 females, mean age 45.8 ± 15.8 years); 14 lacto-ovovegetarians (6 males, 8 females, mean age 48.5 ± 14.5 years), and 29 control subjects (19 males, 10 females, mean age 43.4 ± 16.7 years). tHcy was evaluated by high-performance liquid chromatography. Serum vitamin B12 and folate were analyzed by automated chemiluminescence systems. Clinical records, nutritional and anthropometric variables were collected for all vegetarian subjects. Results: tHcy was significantly higher in vegetarian subjects than in controls (23.9 ± 21.3 vs. 11.6 ± 4.9 µmol/l, p < 0.001). The prevalence of hyperhomocysteinemia was higher in vegetarians than in controls (53.3 vs. 10.3%, p < 0.001). Serum vitamin B12 levels were lower in vegetarians than in control subjects (171.2 ± 73.6 vs. 265.0 ± 52.2 pmol/l, p < 0.01; normal range 220–740 pmol/l). In vegetarian subjects, significant inverse correlations were found between tHcy and serum vitamin B12 levels (r = –0.776, p < 0.001) and between tHcy and serum folate levels (r = –0.340, p < 0.05). Positive correlations were found between tHcy and mean red cell volume (r = 0.44, p < 0.01) and between tHcy and fat-free mass (r = 0.36, p < 0.05). Conclusion: Vegetarian subjects presented significantly higher tHcy levels, higher prevalence of hyperhomocysteinemia, and lower serum vitamin B12 levels than controls.
Urinary Collagen Cross-Links as Biochemical Markers of Growth: An Evaluation of Biological Variables
Authors: Branca Francesco , Valtueña Silvia , Golden Michael H.N. , Robins Simon
Published: April 2003

Aim: To investigate the validity of urinary pyridinium cross-links (pyridinoline and deoxypyridinoline) as markers of growth in healthy children. Methods: Three pilot studies (P1–P3) were conducted to investigate the time of day, the minimal duration within a day, and how many times per week urine samples needed to be collected to obtain representative values of cross-link excretion in normal children 3–5 years of age. The results were used to design a 4-month longitudinal protocol to evaluate whether pyridinium cross-links could be used as markers of growth velocity. Results: Mean differences from 24-hour values were only between 1 and 4% for urinary cross-links (nmol/h) in overnight 12-hour collections. Three consecutive collections were required for weekly output estimates with a maximum error of 10% in >90% of the children. During the 4-month longitudinal study, the regression equation of height velocity on pyridinoline and deoxypyridinoline excretion explained approximately 60% of the variance in the subgroup of subjects who provided three complete urinary collections per observation period. No relationship was observed when the cases with fewer or incomplete collections were included in the analysis. Cross-link values collected at baseline were of no use to predict height velocity at 4 months. Conclusions: Urinary pyridinium cross-links correlate with the growth velocity in healthy children when using an appropriate urinary collection protocol. However, their predictive value in this population is negligible.
Bactericidal Effect of Combinations of Antibiotic and Antineoplastic Agents against Staphylococcus aureus and Escherichia coli
Authors: Nyhlén A. , Ljungberg B. , Nilsson-Ehle I. , Odenholt I.
Published: April 2003

Background: The bactericidal effect of some antibiotic and antineoplastic agents commonly used in clinical practice was investigated to analyse whether the combinations act synergistically, have indifferent or antagonistic antibacterial effects compared to the effect of the antibiotics alone. Methods: The rate of killing of meropenem, ceftazidime and tobramycin was studied against six different strains of Staphylococcus aureus and Escherichia coli, and the results were compared to the rate of killing of the antibiotics in combination with the cytostatic drugs doxorubicin, etoposide and 5-fluorouracil (5-FU). Results: Tobramycin showed synergy against two strains of S. aureus after 3 h in the presence of 5-FU and against one strain of S. aureus in the presence of doxorubicin. Meropenem induced an antagonistic bactericidal effect against one isolate of S. aureus after 24 h. Ceftazidime expressed an indifferent bactericidal effect together with the cytostatic agents. The antineoplastic agents had no impact on the bacterial killing of any of the antibiotics against E. coli. Conclusions: Tobramycin expressed a significantly better bactericidal effect against S. aureus after 3 h in the presence of doxorubicin and 5-FU than tobramycin alone. Meropenem expressed antagonism against one clinical strain of S. aureus, but the cytostatic drugs did not affect the killing of other strains tested. Ceftazidime expressed indifferent bactericidal activity together with the antineoplastic agents.
Left Ventricular Hypertrophy and Diastolic Dysfunction in Healthy Pregnant Women
Authors: Schannwell Christiana M. , Zimmermann Tobias , Schneppenheim Markus , Plehn Gunnar , Marx Roger , Strauer Bodo E.
Published: April 2003

Objective: The purpose of this study was to examine which hemodynamic parameters change under the natural volume overload of pregnancy. Study Design: 46 healthy pregnant women were echocardiographically examined during the course of pregnancy. To evaluate left ventricular diastolic function, mitral inflow and pulmonary venous flow profiles were used. Fractional shortening and left ventricular muscle mass were calculated. Results: In the course of pregnancy the left ventricular muscle mass index increased (from 66 ± 6 to 96 ± 9 g/m2), fractional shortening decreased (from 38 ± 4 to 32 ± 6%) and a disturbed diastolic relaxation pattern was documented. Eight weeks after delivery, all left ventricular systolic and diastolic functional parameters returned to normal values. Conclusion: The natural volume overload in pregnancy leads to a reversible ‘physiological’ left ventricular hypertrophy, a short-term decrease in systolic function and a significant change in left ventricular diastolic function.
Developmental Potential of Hematopoietic and Neural Stem Cells: Unique or All the Same?
Authors: Kirchhof Nicole , Harder Friedrich , Petrovic Suzana , Kreutzfeldt Simon , Schmittwolf Carolin , Dürr Michael , Kirsten Jan , Mühl Bettina , Merkel Angela , Müller Albrecht M.
Published: April 2003

Like many other animals, mammals develop from fertilized oocytes – the ultimate stem cells. As embryogenesis proceeds, most cells lose developmental potential and eventually become restricted to a specific cell lineage. The result is the formation of a complete and structured mature organism with complex organs composed of a great variety of mature, mostly mitotically quiescent effector cells. However, along the way, some exceptional cells, known as somatic stem cells (SSCs) are set aside and maintain a high proliferation and tissue-specific differentiation potential. SSCs, in contrast to embryonic stem (ES) cells, which are able to give rise to all cell types of the body, have been regarded as being more limited in their differentiation potential in the sense that they were thought to be committed exclusively to their tissue of origin. However, recent studies have demonstrated that somatic stem cells from a given tissue can also contribute to heterologous tissues and thus show a broad nontissue restricted differentiation potential. The question arises: how plastic are somatic stem cells? To provide a tentative answer, we describe and review here recent investigations into the developmental potentials of two somatic stem cell types, namely hematopoietic and neural stem cells.
Performance on the Cognitive Abilities Screening Instrument at Different Stages of Alzheimer’s Disease
Authors: Liu Hsiu-Chih , Teng Evelyn Lee , Lin Ker-Neng , Chuang Ya-Yun , Wang Pei-Ning , Fuh Jong-Ling , Liu Chia-Yih
Published: April 2003

The Cognitive Abilities Screening Instrument (CASI) contains nine cognitive domains. Its total score has been used to screen for dementia in epidemiological studies conducted in the US, Japan and Taiwan, but its usefulness in distinguishing different levels of dementia has not been examined. This study was conducted to compare CASI scores of patients with Alzheimer’s disease (AD) with different levels of severity of dementia. The CASI was administered to 475 AD patients with mild, moderate or severe dementia according to the Clinical Dementia Rating Scale. The patients’ scores were compared to the scores of 475 age-, education- and gender-matched control subjects. More specifically, each patient’s score, X, was transformed to a z score with reference to the mean and SD of the scores of the control group, where z = (X – mean)/SD. Then, the mean of the z scores and the percentage of patients with z scores of <–2.0 were compared among the three patient groups. For the CASI total score and all of its nine domain scores, the mean z score decreased (except that for short-term memory) and a higher percentage of patients scored below the normal range with increasing severity of dementia. This study validates the usefulness of the CASI for assessing the severity of dementia. The domain scores differed in their relative usefulness for detecting dementia and for distinguishing in different levels of dementia.
The Role of Prevention and Simple Interceptive Measures in Reducing the Need for Orthodontic Treatment
Authors: Kerosuo Heidi
Published: April 2003

The purpose of the interceptive orthodontic treatment is to eliminate or reduce the need for treatment in the permanent dentition. The major advantage of such a treatment may also be that it is technically simple and relatively cheap, compared to comprehensive treatment with full fixed appliances. The need for interceptive measures to avoid adverse occlusal and dental consequences, which are effects of the early loss of primary molars and nonnutritive sucking habits, is discussed. The need for prevention and early intervention in patients with anterior open bites, posterior functional crossbites and signs of ectopic erupting canines is also discussed.
Evidence of Different Profiles of Side Effects and Drug–Drug Interactions among the Quinolones _ The Pharmacokinetic Standpoint
Authors: Lode Hartmut
Published: April 2003

Recent pharmacokinetic data, interaction profiles, and specific tolerance problems associated with the fluoroquinolones are reviewed. Oral absorption was highest for levofloxacin (99–100%), and 500 mg oral levofloxacin achieved a much higher initial concentration than either sparfloxacin (400 mg) or ciprofloxacin (500 mg, b.i.d.), with a slow drop in concentration over 24 h. The Cmax achieved after an oral 250-mg dose ranged from a low of 1.2 µg/ml/70 kg for ciprofloxacin, to 1.71 for gatifloxacin and 2.17 for moxifloxacin, to a high of 2.48 for levofloxacin (p < 0.01). Ciprofloxacin had the lowest AUC of 4.6 µg/ml/70 kg, gatifloxacin 15, levofloxacin 17.9, and moxifloxacin 19.7 µg/ml/70 kg (p < 0.01). All fluoroquinolones interact with multivalent cation-containing products and bioavailability is reduced by 50% when co-administered with iron compounds (ciprofloxacin and moxifloxacin are more affected than levofloxacin or gemifloxacin). The interaction between theophylline and fluoroquinolones is most marked with enoxacin, pefloxacin, and ciprofloxacin, with no such interaction reported for levofloxacin. Sparfloxacin is associated with cardiac manifestations of QTc prolongation and has a high phototoxicity potential. Moxifloxacin is currently under observation concerning QTc effects. Levofloxacin has no QTc prolongation and a very low phototoxic potential, making it one of the safest new fluoroquinolones.
Antibacterial Activity of Restorative Dental Biomaterials in vitro
Authors: Boeckh Clemens , Schumacher Eliane , Podbielski Andreas , Haller Bernd
Published: April 2003

This study investigated the antibacterial effects against Streptococcus mutans of a fine-hybrid resin composite (FH-RC; Tetric ceram), an ion-releasing resin composite (Ariston pHc), a self-curing glass ionomer cement (SC-GIC; Ketac-Molar), a resin-modified GIC (RM-GIC; Photac-Fil), and a zinc oxide eugenol cement (ZOE; IRM). In a novel assay, bacterial suspensions were placed into narrow 20-µl conical cavities within the materials. After 0, 4, 8, 24, 48 h and 1 week of incubation, the suspensions were removed from the restoratives and the numbers of viable bacteria were determined. After incubation periods of 8 h or more, all restorative materials except the FH-RC showed significant growth inhibition when compared with controls. The strongest antibacterial activity was observed with ZOE. The inhibitory effect of Ariston pHc was similar to that of the SC-GIC and the RM-GIC. In the second assay, growth inhibition was evaluated in liquid cultures by incubating eluates of the materials with suspensions of S. mutans. Bacterial growth was determined up to 6 h by measuring absorption at 600 nm. The most marked inhibitory effect was again observed with ZOE. The SC-GIC caused a significant inhibition at all time intervals but the FH-RC, the RM-GIC and Ariston pHc exhibited no significant antibacterial effects. It is recommended to employ more than one method for assessing the antibacterial potential of restorative materials. Long-term clinical trials are necessary to determine whether the antimicrobial effects of dental materials are able to reduce the risk of secondary caries formation.
Inhibition of Secondary Caries Lesion Progression Using Fluoride Varnish
Authors: Fontana M. , González-Cabezas C. , Haider A. , Stookey G.K.
Published: April 2003

The purpose of this study was to determine the efficacy of fluoride varnish (FV) in inhibiting progression of secondary caries (SC). In a first experiment, human teeth, restored either with amalgam or resin composite, were exposed for 4 days to a microbial caries model. Half of each specimen was then painted with an acid-resistant nail varnish to maintain the baseline SC lesion. Specimens were then either treated with a FV (removed after 24 h) or not treated (control groups) prior to being exposed for 4 more days to the caries model. A second experiment was conducted to compare the effect that the varnish (with and without fluoride) had on SC development around amalgam. Confocal laser scanning microscopy data from these experiments suggested that the application of a FV to early, active SC lesions significantly slowed down their progression. Furthermore, the application of a placebo varnish showed a trend towards slowing down lesion progression, suggesting that the effect of FV on SC is not only due to its fluoride release.
Prevalence, Distribution and Background Variables of Smooth-Bordered Tooth Wear in Teenagers in The Hague, The Netherlands
Authors: van Rijkom H.M. , Truin G.J. , Frencken J.E.F.M. , König K.G. , van ’t Hof M.A. , Bronkhorst E.M. , Roeters F.J.M.
Published: April 2003

The purposes of the study were: (1) to assess the prevalence and distribution of smooth-bordered tooth wear in teenagers, and (2) to investigate the relationship between smooth-bordered tooth wear and social background, dietary pattern, drinking habits, oral hygiene practices and caries prevalence. In The Hague, The Netherlands, a sample of 345 10- to 13-year-olds and 400 15- and 16-year-olds was clinically examined. The criteria for the assessment of smooth-bordered tooth wear (‘smooth wear’) were in line with the diagnostic criteria for erosion developed by Lussi (1996). In the age group 10–13 years, the percentage of subjects with visible smooth wear (SW1 threshold) was 3% and in 1 subject (0.3%), deep smooth enamel wear was found. Due to the low prevalence, the results for this age group were not analysed further. In the age group 15–16 years, the proportion of subjects with visible smooth wear (SW1 threshold) was 30% and that with at least deep smooth enamel wear (SW2 threshold) 11%. Smooth wear into dentine was found in 1 subject. First molars and upper anterior teeth were affected predominantly. A significant effect on visible smooth wear (SW1 threshold) was found for gender and social background. At mouth level, no significant influence was found for dietary patterns, drinking habits or oral hygiene practices. The caries prevalence was similar in subjects with and without smooth wear.
In vivo Confocal Imaging of Pigmented Eccrine Poroma
Authors: Tachihara Rieko , Choi Christine , Langley Richard G.B. , Anderson R. Rox , González Salvador
Published: April 2003

Background: Near-infrared reflectance confocal microscopy (CM) imaging is a noninvasive technique that can be utilized to evaluate histologic features of cutaneous lesions in vivo. Objective: A case of pigmented eccrine poroma was examined with CM. Methods: Confocal images were taken to define the features of the lesion and correlated with transverse hematoxylin-eosin (HE)-stained sections. Results: In CM imaging, a well-demarcated homogeneous nest consisting of small uniform cells was seen. The nest contained nonrefractile dark spaces that may represent cuticuli. Many dendritic melanocytes containing melanin were intermingled with the tumor cells, and numerous melanophages were present in the upper dermis. A marked prominence of surrounding vessels was also demonstrated. Conclusions: CM could well demonstrate the features of a pigmented eccrine poroma, as correlated with transverse HE-stained sections. However, high reflectance signals from melanin had to be carefully considered before a definitive diagnosis could be made.
Alpha-1-Antitrypsin Deficiency-Associated Cervical Artery Dissection: Report of Three Cases
Authors: Pezzini Alessandro , Magoni Mauro , Corda Luciano , Pini Lara , Medicina Daniela , Crispino Mario , Pavia Marco , Padovani Alessandro , Grassi Vittorio
Published: April 2003

The pathogenesis of cervical artery dissection is poorly understood. Deficiency of the elastase inhibitor alpha-1-antitrypsin may represent a predisposing condition. Biochemical and genetic analyses in a series of 12 consecutive patients with spontaneous dissection of the neck vessels showed 3 cases associated to alpha-1-antitrypsin deficiency, in combination with transient precipitating factors. A disequilibrium between proteolytic enzymes and protease inhibitors may contribute to the pathogenesis of cervical artery dissection leading to structural abnormalities of the extracellular matrix and increasing the susceptibility of the vessel wall to additional short-lived trigger mechanisms.
Dentatorubropallidoluysian Atrophy with Chronic Renal Failure in a Japanese Family
Authors: Ono Seiitsu , Kaneda Kenshi , Suzuki Megumi , Tagawa Asako , Shimizu Natsue
Published: April 2003

We describe a Japanese family with molecularly confirmed DRPLA associated with chronic renal failure of unclear etiology on hemodialysis. The clinical symptoms and laboratory data show that the renal failure in our DRPLA patients is not associated with known familial renal diseases. Thus, we suggest a possible unifying hypothesis that the coexistence of DRPLA and chronic renal failure may be caused by the same etiology.
Pathophysiologic Mechanism of Convergence Nystagmus
Authors: Johkura Ken , Komiyama Atsushi , Kuroiwa Yoshiyuki
Published: April 2003

The convergent eye movements in convergence nystagmus are reported to be opposed adducting saccades under excessive convergence drive. What occurs is a horizontal saccade of the adducting eye and a quick reversal of the abducting eye immediately after initiation of the original saccade. Accordingly, the opposed adducting saccades of the abducting eye have been explained by the dynamic overshoot mechanism. However, by electro-oculographic analysis of eye movements in a patient with convergence nystagmus, we found that the opposed adducting saccades of the abducting eye occurred not only after but also just before initiation of the original saccade. Our observation indicates that the opposed adducting saccades can occur without dynamic overshoot as the starter mechanism. Possibly, cessation of the discharge of omnipause neurons may lead to firing of the burst neurons for the medial rectus subnucleus via activation by the excessive convergence drive.
Y-Chromosomal Diversity Suggests that Baltic Males Share Common Finno-Ugric-Speaking Forefathers
Authors: Laitinen Virpi , Lahermo Päivi , Sistonen Pertti , Savontaus Marja-Liisa
Published: April 2003

Objective: To elucidate the genetic relationships between Estonian, Latvian and Lithuanian men by studying Y-chromosomal variation in these people. Methods: The allelic status of five deep-rooted marker loci (YAP, Tat, M9, 92R7 and SRY-1532) was determined for 346 Baltic males. On the basis of single nucleotide polymorphism (SNP) haplotypes, Y chromosomes were divided into six haplogroups, and the Baltic haplogroup distribution compared with that in 7 European reference populations. Haplogroup frequencies, diversities and genetic distances (FST values) were calculated. The relationships between populations were further illustrated using Mantel test, neighbor-joining tree and principal-component map. Results: We found the Indo-European-speaking Latvians and Lithuanians to be genetically very similar to the Finno-Ugric-speaking Estonians. When compared to the reference populations, Baltic males were most closely related to the Finno-Ugric-speaking Mari, followed by their Finnish and Slavonic neighbors. Conclusions: The genetic similarity existing between Estonian, Latvian and Lithuanian men suggests that they originate from the same male founder population. Since the Baltic Y-chromosomal haplogroup distribution more closely resembles that of Finno-Ugric than Indo-European-speaking populations, we propose a hypothesis that Baltic males share a common Finno-Ugric ancestry.
Efficacy of Cabergoline in Long-Term Use: Results of Three Observational Studies in 1,500 Patients with Parkinson’s Disease
Authors: Baas Horst K.J. , Schueler Peter
Published: April 2003

The tetracyclic ergoline derivative cabergoline was investigated in three studies to test its efficacy in treating the motor symptoms of Parkinson’s disease. In two studies, it was used as an add-on agent to the previous medication regimen that included other parkinsonian drugs, including levodopa. In the third study, cabergoline was switched from another dopamine agonist. All studies proved this drug’s effectiveness in treating such motor symptoms as akinesia, dyskinesia, and nocturnal akinesia. Quality of life and disability in activities of daily living assessments were measured by PDQ 39 or UPDRS VI. Treatment with cabergoline showed higher efficacy and greater safety than other parkinsonian drugs.