bluuebunny/crossref_metadata_2025 huggingface dataset:
A new case of reciprocal translocation in a young bull: rcp(11;21)(q28;q12)
Authors: Molteni L. , Perucatti A. , Iannuzzi A. , Di Meo G.P. , De Lorenzi L. , De Giovanni A. , Incarnato D. , Succi G. , Cribiu E. , Eggen A. , Iannuzzi L.
Published: February 2007

Routine cytogenetic investigations of the Chianina cattle (BTA) breed revealed the presence of longer and smaller chromosomes than the largest (BTA1) and smallest (BTA29) chromosomes in the cells of a young, normal-looking bull used for reproduction. Application of both RBA-banding and Ag-NOR techniques, as well as the use of the FISH technique and specific molecular markers of both BTA11 (IL1B, ASS and LGB) and BTA21 (SERPINA and D21S45) established that these two abnormal chromosomes were the product of a reciprocal translocation between BTA11 and BTA21. Both der(11) and der(21) were C-band positive and the chromosome regions affected were rcp(11;21)(q28;q12). The young bull had a normal body conformation, including external genitalia, normal levels of testosterone (as in the control) and non-detectable levels of both 17 beta-estradiol and progesterone (as in the control). The animal never showed libido in the presence of both males and females in oestrus. After slaughter at 18 months, histological evaluation revealed normal organized testes, seminiferous tubules and epididymis but with poor proliferative germ cells consisting mainly of spermatogonia, middle pachytene spermatocytes and early spermatids with late spermatids and spermatozoa being very rare.
Comparative mapping of sheep chromosome 2q
Authors: van Stijn T.C. , French M.C. , Dodds K.G. , McEwan J.C. , Broad T.E. , Womack J.E. , Tisdall D.J. , Galloway S.M.
Published: February 2007

Sheep chromosome 2q (OAR2q), which is homologous with human chromosome 2q (HSA2q), and cattle chromosome 2 (BTA2), is known to contain several loci contributing to carcass traits. However, the chromosomal rearrangements differentiating these chromosomes among the three species have not yet been determined and thus precise correspondences between the locations of sheep and human genes are not known. Twenty-six genes from HSA2q (2q21.1→2q36) have been assigned to OAR2q by genetic linkage mapping to refine this area of the sheep genome. Seventy-six genes were initially selected from HSA2q. Sixty-eight percent of the PCR primer sets designed for these genes amplified successfully in sheep, and 34% amplified polymorphic products. Part of the proximal arm of OAR2q was found to be inverted compared with HSA2q. The breakpoint has been localised near the growth differentiation factor 8 gene (GDF8), spanning 380 kb between the positions of the hypothetical protein (FLJ20160) (HSA2:191008944–191075046) and glutaminase (GLS) (HSA2:191453847–191538510) (Build36.1).
Porcine DJ-1: cloning of PARK7 cDNA, sequence comparison, expression analysis and chromosomal localization
Authors: Larsen K. , Madsen L.B. , Høj A. , Bendixen C.
Published: February 2007

The PARK7 gene encodes a protein, DJ-1, with several functions such as protection of cells from oxidative stress, sperm maturation and fertilization and chaperone activity. Mutations in the PARK7 gene are associated with autosomal recessive early-onset Parkinson’s disease (Parkinsonism). This work reports the cloning and analysis of the porcine (Sus scrofa) homologue of DJ-1. The porcine PARK7 cDNA was amplified by reverse transcriptase polymerase chain reaction (RT-PCR) using oligonucleotide primers derived from in silico sequences. The porcine PARK7 cDNA (SsPARK7) encodes a protein of 189 amino acids which shows a very high similarity to bovine (97%), to human (96%) and to canine (95%) DJ-1. Protein structure comparison of human and porcine DJ-1 sequences revealed that amino acid changes were few between the two species and not likely to alter DJ-1 structure and function. Quantitative real-time RT-PCR detection exhibited SsPARK7 mRNA expression in all analyzed porcine tissues, although at different levels. Furthermore, expression analysis showed that SsPARK7 transcripts could be detected early in embryo development in different brain regions. The PARK7 gene was demonstrated to be located on porcine chromosome 6. Single-nucleotide polymorphism (SNP) analysis revealed one SNP in the porcine PARK7 gene, giving rise to a silent mutation in exon 6.
Inverted duplication pattern in anaphase bridges confirms the breakage-fusion-bridge (BFB) cycle model for 11q13 amplification
Authors: Reshmi S.C. , Roychoudhury S. , Yu Z. , Feingold E. , Potter D. , Saunders W.S. , Gollin S.M.
Published: February 2007

The homogeneously staining region (hsr) involving chromosome band 11q13 includes amplified genes from this chromosome segment and carries a relatively poor prognosis in oral squamous cell carcinomas (OSCC), with shorter time to recurrence and reduced overall survival. We previously identified an inverted duplication pattern of genes within the 11q13 hsr in OSCC cells, supporting a breakage-fusion-bridge (BFB) cycle model for gene amplification. To validate our hypothesis that 11q13 gene amplification in OSCC occurs via BFB cycles, we carried out fluorescence in situ hybridization (FISH) using probes for band 11q13 on 29 OSCC cell lines. We demonstrate that all OSCC cell lines with 11q13 amplification express a significantly higher frequency of anaphase bridges containing 11q13 sequences compared to cell lines without amplification, providing further experimental evidence that 11q13 gene amplification in OSCC cells occurs via BFB cycles. Elucidation of mechanisms responsible for initiating and promoting gene amplification provides opportunities to identify new biomarkers to aid in the diagnosis and prognosis of oral cancer, and may be useful for developing novel therapeutic strategies for patients with OSCC.
Localization of the single copy gene Mdh2 on Xenopus tropicalis chromosomes by FISH-TSA
Authors: Krylov V. , Tlapakova T. , Macha J.
Published: February 2007

A single copy gene, mitochondrial malate dehydrogenase 2 (Mdh2), was localized on Xenopus tropicalis chromosomes by fluorescence in situ hybridization coupled with tyramide signal amplification (FISH-TSA). The respective cDNA was cloned and sequenced. The labeled probe hybridized with a subcentromeric region of the long arms of homologous chromosomes 3. Results of comparison of the gene localization with previously mapped X. laevis paralogs strongly suggest a common evolutionary origin of chromosomes 3 and 8 in X. laevis and chromosome 3 in X. tropicalis. This is the first time that a single copy gene has been visualized on X. tropicalis chromosomes. The FISH-TSA method gives a strong signal with a 1-kb labeled probe.
Karyotype differentiation in Chromaphyosemion killifishes (Cyprinodontiformes, Nothobranchiidae). III: Extensive karyotypic variability associated with low mitochondrial haplotype differentiation in C. bivittatum
Authors: Völker M. , Sonnenberg R. , Ráb P. , Kullmann H.
Published: February 2007

We investigated chromosomal evolution in the African killifish species Chromaphyosemion bivittatum using a combination of cytogenetic and phylogenetic methods. Specimens from five populations were examined by conventional Giemsa staining as well as sequential chromosome banding with 4′,6-diamidino-2-phenylindole (DAPI), chromomycin A3 (CMA3), AgNO3-staining and C-banding. The cytogenetic analysis revealed variability in 2n ranging from 2n = 29 to 2n = 36 and in NF ranging from NF = 38 to NF = 44. Two populations showed an extensive chromosomal polymorphism (2n = 29–34, NF = 44 and 2n = 32–34, NF = 38–42, respectively). Karyotypic variability within and among populations was mainly due to Robertsonian translocations and heterochromatin additions, and chromosome banding patterns suggested that both types of chromosomal rearrangements were related to the presence of AT-rich heterochromatin. A phylogenetic analysis of the partial mitochondrial (mt) cytochrome b gene, using specimens from eleven populations, revealed a low degree of haplotype differentiation, which suggested a relatively recent divergence of the populations examined. This finding conformed to the low degree of morphological differentiation observed among C. bivittatum populations and might indicate fast chromosomal evolution. The high karyotypic variability may be caused by an elevated chromosomal mutation rate as well as certain aspects of the mating system and population dynamics of C. bivittatum facilitating the fixation of new chromosomal variants.
Development of a SCAR marker for the analysis of B chromosome presence in Partamona helleri (Hymenoptera, Apidae)
Authors: Tosta V.C. , Tavares M.G. , Fernandes-Salomão T.M. , Barros E.G. , Campos L.A.O. , Camacho J.P.M.
Published: February 2007

Chromosomes in hymenopteran insects cannot currently be analysed in adult individuals. The only available cytogenetic techniques need to be performed in larvae. Here we develop and implement a SCAR (Sequence Characterized Amplified Region) marker, associated with B chromosomes in the bee Partamona helleri, which has proven to be very useful to reveal B chromosome presence in adults from natural populations. The marker was tested in ten different colonies simultaneously analysed by both molecular (ten adults per colony) and cytogenetic (20 larvae per colony) techniques. The presence of the SCAR marker always showed the same pattern as B chromosome presence: both were present or absent in all individuals from a same colony, or both were present in only part of the individuals from a same colony. This molecular marker is thus a useful tool for analysing new aspects of this B chromosome system such as B frequency and geographical distribution, B transmission, or B effects in adult individuals.
Physical mapping of the IGF2 locus in the South American opossum Monodelphis domestica
Authors: Lawton B.R. , Obergfell C. , O’Neill R.J. , O’Neill M.J.
Published: February 2007

The South American opossum Monodelphis domestica has been a model organism for marsupials for many years and has recently been the subject of a large-scale genome sequencing effort that will provide the foundation for comparative studies of gene function and regulation. Genomic imprinting is one mechanism of gene regulation that has received increasing attention due to the impact of imprinting defects on development and disease. We have mapped the imprinted insulin-like growth factor II (IGF2) gene of M. domestica as a first step in understanding the regulatory mechanisms involved in genomic imprinting in this marsupial.
Reassignment of chicken W chromosome sequences to the Z chromosome by fluorescence in situ hybridization (FISH)
Authors: Stiglec R. , Ezaz T. , Graves J.A.M.
Published: February 2007

There is much interest in the gene content of the small heterochromatic W chromosome of the chicken, on the supposition that it may contain sex-determining genes. A considerable region in the chicken genome has been assigned to the W chromosome on the basis of its repetitive sequences. Using fluorescent in situ hybridization (FISH) we localized five Bacterial Artificial Chromosomes (BACs) onto female chicken metaphase spreads. We physically mapped these BACs to the Z chromosome. The chicken genome database, however, assigned all five BACs to the W chromosome. Our results demonstrate that the 17 genes on these BACs are Z-specific, and points to the inadequacy of assigning regions of the genome based exclusively on repetitive sequences.
Detection of a novel familial deletion of four genes between BP1 and BP2 of the Prader-Willi/Angelman syndrome critical region by oligo-array CGH in a child with neurological disorder and speech impairment
Authors: Murthy S.K. , Nygren A.O.H. , El Shakankiry H.M. , Schouten J.P. , Al Khayat A.I. , Ridha A. , Al Ali M.T.
Published: February 2007

Two common classes of deletions are described in the literature in individuals with Prader-Willi/Angelman syndrome (PWS/AS): one between breakpoint 1 (BP1) to BP3 and the other between BP2 to BP3 of the PWS/AS critical region on chromosome 15q11→q13. We present here a novel observation of an approximately 253-kb deletion between BP1 and BP2 on 15q11.2, in a 3½-year-old boy, who was referred to us with a clinical suspicion of having Angelman syndrome and presenting with mental retardation, neurological disorder, developmental delay and speech impairment. Karyotype and FISH results were found to be normal. The microdeletion between BP1 and BP2 includes four genes – NIPA1, NIPA2, CYFIP1 and TUBGCP5 which was detected by a high-resolution oligonucleotide array-CGH that was further validated by a Multiplex Ligation-dependent Probe Amplification (MLPA) assay. The same deletion was observed in the father who presented with similar but relatively milder clinical features as compared to the affected son. Methylation studies by methylation-specific MLPA (MS-MLPA) of the SNRPN imprinting center (IC) showed a normal imprinting pattern, both in the patient and the father. To our knowledge a microdeletion limited only to the BP1-BP2 region has not yet been reported. The familial genetic alteration together with the striking clinical presentation in this study are interesting, but from our single case study it is difficult to suggest if the deletion is causative of some of the abnormal features or if it is a normal variant. The study however further strengthens the fact that genome-wide analysis by array CGH in individuals with developmental delay and mental retardation is very useful in detecting such hidden interstitial chromosomal rearrangements.
Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH
Authors: Yu S. , Barbouth D. , Benke P.J. , Warburton P.E. , Fan Y.-S.
Published: February 2007

A small supernumerary marker chromosome (SMC) was observed in a girl with severe developmental delay. Her dysmorphism included prominent forehead, hypertelorism, down-slanting palpebral fissures, low-set/large ears, and flat nasal bridge with anteverted nares. This case also presented hypotonia, hypermobility of joints, congenital heart defect, umbilical hernia, failure to thrive, and seizures. The SMC originated from the distal region of Xp as identified by FISH with multiple DNA probes. Staining with antibodies to Centromere Protein C (CENP-C) demonstrated a neocentromere, while FISH with an α-satellite DNA probe showed no hybridization to the SMC. A karyotype was described as 47,XX,+neo(X)(pter→p22.31::p22.31→pter), indicating a partial tetrasomy of Xp22.31→pter. This karyotype represents a functional trisomy for Xp22.31→pter and a functional tetrasomy for the pseudoautosomal region given that there is no X-inactivation center in the marker chromosome. The SMC was further characterized by microarray-based comparative genomic hybridization (array CGH) as a duplicated DNA fragment of approximately 13 megabase pairs containing about 100 genes. We have described here a new neocentromere with discussion of its clinical significance.
Distribution of sex chromosomes in dysgenetic gonads of mixed type
Authors: Röpke A. , Kalinski T. , Mohnike K. , Sel S. , Jakubiczka S. , Pelz A.-F. , Roessner A. , Wieacker P.F.
Published: February 2007

In a four-week-old child with female external and internal genitalia but with clitoris hypertrophy chromosome analysis from blood lymphocytes revealed a 46,XY karyotype. No deletion of Y chromosomal sequences was detected by PCR analysis of genomic DNA isolated from peripheral blood leucocytes. Because of the increased risk for gonadal tumours, gonadectomy was performed. Conventional cytogenetic analysis of the left dysgenetic gonad revealed a gonosomal mosaicism with a 45,X cell line in 27 of 50 metaphases. The dysgenetic left gonad demonstrated a significantly higher proportion (P = 0.005) of cells carrying a Y chromosome (46.3%) than the streak gonad from the right side (33.9%). Histomorphological examination of the left gonad revealed immature testicular tissue and rete-like structures as well as irregular ovarian type areas with cystic follicular structures. Interphase FISH analysis of the different tissues of this dysgenetic gonad demonstrated variable proportions of cells with an X and a Y chromosome. Whereas Sertoli cells and rete-like structures revealed a significantly higher proportion of XY cells in relation to the whole section of the dysgenetic gonad (P < 0.0001), almost all granulose-like cells carried no Y chromosome. The proportion of XY/X cells in theca-like cells and Leydig cells was similar to that of the whole dysgenetic gonad. In contrast to these findings, spermatogonia exclusively contained an XY constellation.
Chronic Prostatitis/Chronic Pelvic Pain Syndrome: Role of Alpha Blocker Therapy
Authors: Lee Shaun Wen Huey , Liong Men Long , Yuen Kah Hay , Liong Yee Vonne , Krieger John N.
Published: February 2007

Introduction: This article reviews the rationale and data supporting alpha blocker therapy for chronic prostatitis/chronic pelvic pain syndrome (CP/CPPS), the most common and difficult prostatitis syndrome. Methods: Systematic review identified ten clinical trials evaluating alpha blocker therapy for patients with CP/CPPS, including five open-label or small prospective studies and five double-blinded and placebo-controlled clinical trials. Results: Encouraging results in uncontrolled and small clinical trials led to the development of reasonably powered, double-blinded, placebo-controlled, randomized clinical trials evaluating terazosin, doxazosin, tamsulosin, and alfuzosin. Conclusions: Current data suggest that treatment-naïve and/or newly diagnosed patients appear more likely to respond than long-term, chronic refractory patients. Longer courses of treatment (12 weeks to 6 months) appear superior to shorter courses, and less selective agents appear superior to more selective alpha1 blockers. These observations outline important questions that must be answered to define optimal treatment strategies for patients with CP/CPPS.
Urinary Tract Injuries during Obstetrics and Gynaecological Surgical Procedures at the Aga Khan University Hospital Karachi, Pakistan: A 20-Year Review
Authors: Nawaz Fauzia Haq , Khan Zeenat Eva , Rizvi Javed
Published: February 2007

Objective: To determine the prevalence of urinary tract injuries, identification of risk factors and methods employed for repair and their outcomes. Study Design: Cross-sectional study of patients who had urinary tract injuries during major obstetric and gynaecological surgeries at the Aga Khan University Hospital (AKUH) from 1985 to 2004. Material and Methods: Computer-generated discharge summaries of patients who underwent major obstetric and gynaecological procedures during the 20 years of study period were retrieved. Information was collected on data collection form, and entered in SPSS version 13 and analysed. Results: During the study period 12,567 obstetrics and 5,966 gynaecological procedures were performed. There were 3,910 abdominal hysterectomies, 984 myomectomies, 591 ovarian/ adenexal surgeries and 481 vaginal hysterectomies. Out of these 110 urinary tract injuries were identified, 71 (64.5%) were of the urinary bladder and 39 (35.5%) were ureteric in origin, 31 (43.6%) bladder injuries were sustained during caesarean sections while 40 (56.3%) were during gynaecological procedures. In obstetric cases there were two ureteric injuries, the other ureteric injuries were sustained during surgeries for benign gynaecological conditions. The prevalence of bladder and ureteric injuries in obstetric surgeries was 0.25 and 0.02%, respectively, whereas in gynaecological surgeries the prevalence was 0.7 and 0.6% for urinary bladder and ureteric injuries. These figures compare well with other published series. Conclusion: Urinary tract injuries are an uncommon occurrence but when they occur they have serious implications in terms of morbidity and litigation. The prevalence of urinary bladder and ureteric injuries observed in our review is comparable to previous reported international series. Of concern is the fact that most of the ureteric injuries were diagnosed post operatively which means that further vigilance and preventive strategies need to be designed.
Evaluation of Sexual Function in Women with Overactive Bladder Syndrome
Authors: Sen Ilker , Onaran Metin , Tan Mustafa Ozgur , Acar Cenk , Camtosun Ahmet , Sozen Sinan , Bozkirli Ibrahim
Published: February 2007

Introduction: Of late, little data is available concerning factors affecting female sexual function. In the present study, we evaluated the effects of overactive bladder (OAB) syndrome symptoms on female sexual function. Materials and Methods: 40 patients with OAB symptoms and 40 age-matched women as a control group were evaluated using the Female Sexual Function Index (FSFI) for sexual function. According to the presence of urge incontinence, women with OAB were also divided into wet and dry groups. After completion of the forms, groups were compared. Results: Although scores of all domains of FSFI (desire, arousal, lubrication, orgasm, satisfaction, pain and total) in the OAB group were found to be lower than in the control group, only ‘desire’ was found to be significantly different (p = 0.035). The FSFI scores of the OAB-dry and OAB-wet group were similar to each other. Conclusion: The results indicate that there is a trend toward lower sexual function scores in women with OAB compared to controls.
Comparison of Cystographic Findings of Intrinsic Sphincteric Deficiency with Urethral Hypermobility Causing Urinary Incontinence
Authors: Park Sang Woo , Sung Deuk Jae , Choi Eun Jung , Lee Min Woo , Kim Young Jun , Yi Jeong Geun , Jeon Hae Jeong , Park Jeong Hee
Published: February 2007

Objectives: To evaluate the usefulness of standing and lateral cystograms for differentiation of intrinsic sphincter deficiency (ISD) from urethral hypermobility (UH) causing stress urinary incontinence (SUI). Materials and Methods: 67 female patients with urinary incontinence undergoing measurement of the Valsalva leak point pressure (VLPP) were included. 14 patients with VLPP <60 cm H2O were operated for ISD causing SUI while 53 patients with VLPP >100 cm H2O were operated for UH causing SUI. Three radiologists compared the cystographic findings. Results: The changes in posterior urethrovesical angle (PUVA) between stress and resting states were 12 ± 7.5° in ISD causing SUI and 32.8 ± 12.7° in UH causing SUI, and showed a statistically significant difference (p < 0.01). The beaking signs of the vesical neck on anteroposterior (AP) projection of the cystogram during a resting state were seen in 76% of ISD causing SUI. The difference was also statistically significant (p < 0.01). The existence of cystocele or the mean PUVA in two groups did not show a statistically significant difference. Conclusion: ISD should be considered in female patients with symptoms of urinary incontinence where there are changes in PUVA <20° on a lateral cystogram between a stress state and resting state in addition to the beaking sign of the vesical neck during a resting state.
Diagnosis and Management of Periurethral Cysts
Authors: Lucioni Alvaro , Rapp David E. , Gong Edward M. , Fedunok Paula , Bales Gregory T.
Published: February 2007

Background/Aims: Periurethral cysts are a rare entity that may be confused with urethral diverticula. The protocol for diagnosis and management of these lesions is still unclear. We present our experience with six patients presenting with periurethral cysts. Methods: From 2001 to 2005 we evaluated six patients with a paraurethral mass. History, physical examination, laboratory and radiographic findings were analyzed to determine factors helpful in mass diagnosis. Cyst excision was performed via trans-vaginal approach in all patients and outcomes of this approach were assessed. Results: Six female patients, average age of 29.7 years, presented with the complaint of a paraurethral mass. Transvaginal sonography was performed in two patients to confirm the presence of a periurethral cyst. Cystourethroscopy in all patients revealed no communication between the cyst and the urethra or presence of other lesions. Pathology revealed a benign cyst in all patients. No cyst recurrence has been seen in any patient. Conclusion: Most periurethral cysts can be diagnosed by physical examination. The diagnosis may be confirmed with transvaginal sonography. Cystourethroscopy should be performed to rule out other pathology, but may be done in the same setting as surgical excision. Complete surgical excision is effective and is associated with minimal risk of recurrence during short-term follow-up.
Experimental Animal Model for Training Transobturator and Retropubic Sling Techniques
Authors: Zanettini Riccetto Cássio Luis , Rodrigues Palma Paulo Cesar , Thiel Marcelo , Miyaoka Ricardo , Rodrigues Netto Jr. Nelson
Published: February 2007

Introduction: Suburethral slings have become the treatment of choice for stress urinary incontinence. However, the lack of experimental models for surgical training is a problem for beginners. We present a model for sling training and evaluate its acceptance by surgeons who have had prior experience. Materials and Methods: There were 32 surgeons who performed the training program and filled out a questionnaire to evaluate the animal model. Eleven-month-old Santa Inês sheep were selected. The techniques used for minimally invasive transobturator and retropubic sling implantation were reproduced followed by cystoscopy. The anatomical similarities of sheep and humans were evaluated, in addition to the reproducibility of surgical techniques. Results: As far as anatomical similarities of vaginal structures are concerned, 13 surgeons (40.6%) reported similarities and 18 (56.2%) reported a strong correlation. Concerning cystoscopy, 18 (56.2%) found similarities and 13 (40.6%) a strong similarity. As for the transvaginal sling, 10 (3.1%) reported similarities and 19 (59.3%) a strong similarity. Among those who had previous experience with transobturator slings, 91.6% considered that the model presented a similarity or strong similarity. Regarding the degree of recommendation, 9 surgeons (28.1%) would recommend it and 22 (68.7%) would strongly recommend it. Conclusion: Ninety-seven percent of the surgeons would recommend this experimental model for training purposes. To our knowledge this is the first description of a successful animal model for transobturator sling training.
Recombinant Factor VIIa Reduces Bleeding Risk in Patients on Platelet Aggregation Inhibitors Immediately prior to Renal Transplantation – A Retrospective Analysis
Authors: Loertzer Hagen , Soukup Jens , Fornara Paolo
Published: February 2007

Background: Transplant surgery often requires an effective preoperative treatment which allows to reduce the risk of bleeding caused by platelet aggregation inhibitors without major delay. The use of recombinant activated coagulation factor VIIa (rFVIIa) may be a future treatment option in such patients. Method: Five patients with end-stage renal disease on treatment with platelet aggregation inhibitors (ASA, Plavix®, Aggrenox®), who were scheduled for renal transplantation and received a preoperative bolus of recombinant factor VIIa (rFVIIa, NovoSeven®) in a dose of 3 kIU/kg (60 µg/kg), were retrospectively analyzed. Parameters of plasmatic coagulation as well as bleeding time were determined before as well as after the administration of rFVIIa. Results: The initial median bleeding time was 7.3 min (range 6.2–14.6); after administration of rFVIIa it fell to 2.8 min (range 1.8–3.2). All patients had a good intraoperative hemostasis. None of the patients developed a hematoma requiring surgical treatment. The graft of all patients was homogeneously and well perfused, with a sufficient postoperative diuresis. Conclusion: The administration of rFVIIa prior to renal transplantation in patients on treatment with platelet aggregation inhibitors was effective and without major complications. Further studies should be performed in order to confirm our observations.
Significance of Collagenase 3 (Matrix Metalloproteinase 13) in Invasive Bladder Cancer: Correlation with Pathological Parameters
Authors: Rodríguez Faba O. , Fernández Gómez J.M. , Palou Redorta J. , Escaf Barmadah S. , Vizoso F. , Villavicencio Mavrich H.
Published: February 2007

Purpose: To determine if collagenase 3 expression is associated with stage progression and prognosis of bladder cancer. Patients and Methods: Immunohistochemical staining for collagenase 3 was carried out on serial sections from specimens of 42 patients (32 males and 10 females) who underwent radical cystectomy for bladder cancer (median follow-up, 67.2 ± 5.99 months). Results: Immunohistochemical expression of collagenase 3 was detected in 13 (31%) patients. Pathological stage was pT2 in 12 (28.57%) patients, pT3a in 7 (16.6%), pT3b in 21 (50%) and pT4 in 2 (4.76%). Four tumours (9.52%) were grade II and 38 (90.47%) were grade III. Stage and tumours >3 cm in size were associated with bladder cancer progression-free survival and overall survival. We did not find any statistical differences with collagenase 3 expression related with stage and size. Conclusions: Immunohistochemical expression of matrix metalloproteinase 13 in invasive bladder cancer is not useful as marker for transformation and invasion. These findings should be evaluated in large multicentre prospective trials.
The Inhibitory Effect of Vitamin E on Cigarette Smoke-Induced Oxidative Damage to the Rat Urothelium: Can It Prevent Transitional Cell Carcinoma?
Authors: Önol Fikret Fatih , Demir Aslan , Temiz Yusuf , Yüksel Meral , Eren Funda , Türkeri Levent N.
Published: February 2007

Introduction: We aimed to detect reactive oxygen species (ROS) and assess subsequent carcinogenesis in terms of cellular proliferation in the bladder and kidney epithelial tissues of rats exposed to cigarette smoke (CS), and to investigate the changes following vitamin E treatment. Materials and Methods: Twenty-four male Sprague-Dawley rats were divided into 3 groups: group 1 was kept intact; group 2 was subjected to CS exposure for 8 weeks, and group 3 received intraperitoneal vitamin E injections (200 mg/kg/week) for 8 weeks in addition to CS exposure. Histological examination and Ki67 antigen expression measurements were made from bladder and renal pelvic tissue sections. Luminol-amplified chemiluminescence was used to measure ROS levels. All results were compared using a one-way ANOVA test. Results: In CS-exposed rats, light microscopy of renal and bladder tissues revealed nonspecific epithelial changes; however, Ki67 expression was significantly increased in bladder tissues compared to other groups (17.5 ± 4.7, 35 ± 2.9 and 18.7 ± 5.1% in groups 1, 2 and 3, respectively, p < 0.05). Chemiluminescence levels in bladder and renal tissues were also significantly higher in the CS-exposed animals (78.1 ± 11.4, 148 ± 13.3, 97.8 ± 6.1 rlu/mg for the bladder, and 99.8 ± 12.2, 176.1 ± 27.9, 67.1 ± 9 rlu/mg, for renal pelvic tissues, respectively, p < 0.05). Conclusions: Vitamin E can alleviate CS-induced oxidative damage in rat bladder and kidney epithelium suggesting a potential role for vitamin E in the prevention of CS-mediated carcinogenesis.
Effect of Age on the Response to in vitro Ischemia and Reperfusion of the Rabbit Bladder
Authors: Agartan Canan Aldirmaz , Leggett Robert E. , Kogan Barry A. , Levin Robert M.
Published: February 2007

Background/Aims: Urinary bladder dysfunction secondary to outlet obstruction is a common condition, seen in both children and adults. Using in vitro models of ischemia/reperfusion (I/R), we compared the contractile and biochemical responses of bladders isolated from young and old rabbits. Materials and Methods: Fourteen male New Zealand White rabbits were separated into two groups of 7. Group 1 (young) included rabbits 6–7 weeks old and group 2 (old) consisted of rabbits 2 years old. Isolated bladder body strips were subjected to in vitro I/R, and the effects on contractility were determined. The strips were then frozen and stored for quantitative malondialdehyde (MDA) analysis. Results: Contractile responses of young and old rabbit bladders to all forms of stimulation – field stimulation (FS), carbachol and potassium chloride (KCl) – were equal. The rate of tension to 32 Hz FS was significantly higher for group 1 in comparison with group 2. The old and young rabbits were equally sensitive to I/R in regard to FS, but the old rabbits were more sensitive to I/R in regard to carbachol and KCl stimulation. Basal MDA concentration of both young and aged bladder strips were similar. Ischemia mediated a significant increase in MDA in bladder strips from both young and old rabbits, but the MDA level was significantly greater for the young than for the old. Conclusion: Although the level of oxidative damage was greater in the young rabbit bladders, functionally, the old rabbit bladders were more sensitive to I/R damage.
Preventive Effects of Ginkgo biloba Extract on Ischemia-Reperfusion Injury in Rat Bladder
Authors: Yenilmez Aydin , Kilic Fatma Sultan , Sirmagul Basar , Isikli Burhanettin , Aral Erinc , Oner Setenay
Published: February 2007

Aims: The aim of this experimental study was to evaluate the effects of Ginkgo biloba (EGb 761) on ischemia-reperfusion (I-R) injury in the rat bladder. Methods: A bladder I-R injury was induced by abdominal aorta occlusion by ischemia for 30 min, followed by 45 min reperfusion in rats. The rats were divided into four groups of 7 rats each; the control, I-R, and I-R groups were pretreated intraperitoneally with 50 or 100 mg/kg G. biloba 60 min before ischemia induction. Contractile responses to carbachol through isolated organ bath studies were recorded, histological sections were evaluated by light microscopy, and TUNEL staining was performed for the evaluation of apoptosis. Results: In the I-R group, the contractile responses of the bladder strips were lower than those of the control group (p < 0.01–0.001) and were restored by pretreatment with 100 mg/kg G. biloba (p < 0.05–0.001). Decreased polymorphonuclear leukocyte infiltration was detected in the G. biloba pretreatment groups when compared to the I-R group during histological evaluation. The ratio of TUNEL-positive nuclei was 1.84% in the I-R group, whereas it was decreased in both of the G. biloba pretreatment groups (p < 0.01, p < 0.01). Conclusion: Our data indicated that G. biloba has a preventive effect on I-R injury in rat urinary bladder.
A Case of Renal Cancer with Tfe3 Gene Fusion in an Elderly Man
Authors: Franzini Aldo , Picozzi Stefano Carlo Maria , Politi Paolo Luca , Barana Luigi , Bianchi Fabio , Alfano Giuseppe , Gatti Giampiera , Fanciullacci Franco , Gariboldi Massimo , Strada Mirella , Leone Biagio Eugenio
Published: February 2007

Sporadic cases of a particular group of renal cancers associated with a translocation involving Xp11.2, known as the TFE3 transcription factor gene, have been reported in the last 20 years. The group was also classified in 2004 WHO kidney carcinoma classifications. A 79-year-old male patient was investigated at the outpatient department for gross intermittent hematuria. Sonography showed a spherical left kidney with increased total size, without evidence of the corticomedullary differentiation due to parenchymal dyshomogeneity with a neoplasm aspect. CT confirmed the sonographic left kidney findings and showed gross node involvement. Angiography did not show any pathological arterial circulation, but massive thrombotic involvement of the renal vein was evident. Radical nephrectomy with thrombectomy and staging lymphectomy were performed. At pathological examination the kidney parenchyma was completely substituted by white firm tissue. Microscopically the tumor was composed of papillary structures lined by epithelial cells with a clear cytoplasm. Multiple node metastases were found. Immunohistochemical examination showed negativity for epithelial markers (cytokeratin and epithelial membrane antigen) and reactivity for CD10 and TFE3. The genetic and histological aspects of this rare tumor are reported. In addition, we describe clinical, radiological and surgical findings.
Superior Mesenteric Artery Injury during en bloc Excision of a Massive Left Adrenal Tumor
Authors: Kumar Santosh , Mandal A.K. , Acharya Naveen , Thingnam S.K. , Bhalla Vidur , Singh S.K.
Published: February 2007

Superior mesenteric artery (SMA) injury is a rare event during abdominal surgery. We report the first case of inadvertent injury of the superior mesenteric artery during surgery of a large malignant adrenocortical tumor with inferior vena cava thrombus. The cause of inadvertent injury was anatomical distortion of the great vessels due to the massive nature of the tumor. The case was managed successfully by immediate end-to-end anastomosis of the superior mesenteric artery.
Melanosis of the Bladder: A Rare Endoscopic and Histopathological Finding
Authors: Di Fiore F. , Pone D. , Domizio S. , Uricchio F. , Tufano A. , Testa G. , Lamendola A.
Published: February 2007

Melanosis of the bladder represents a rare condition characterized by anomalous deposits of melanin-containing pigment. To our knowledge, so far, just 5 cases have been reported in the literature. We describe a case of a simply melanosis of the bladder confirmed by histochemical stains and immunohistochemistry analysis.
Giant Solitary Tumor in the True Pelvis: Atypical Prostatic Adenomyomatosis
Authors: Schilling David , Hennenlotter Jörg , Vogel Ulrich , Nagele Udo , Drews Ulrich , Stenzl Arnulf , Sievert Karl-Dietrich
Published: February 2007

We report about a 32-year-old patient presenting with a large pelvic mass. Sonographic and radiological findings were inconclusive. Open tumorectomy of the mass weighing 500 g was performed. Intraoperative fresh-frozen sections revealed no clear signs of malignancy. Decisive histology and immunohistochemistry led to the diagnosis of benign ectopic prostatic adenomyomatosis. The histology and possible etiologies of this rare finding are discussed.
Mehrlingsschwangerschaften nach ART: Probleme und Lösungsansätze
Authors: Shebl O. , Ebner T. , Sommergruber M. , Sir A. , Urdl W. , Tews G.
Published: February 2007

Mehrlingsschwangerschaften nach assistierter Reproduktionstechnik (ART) sind als Komplikation zu sehen, und als solche möglichst zu vermeiden. Im Vergleich zu Einlingsschwangerschaften nach ART sind Mehrlingsschwangerschaften mit einem erhöhten pränatalen, neonatalen und maternalen Risiko behaftet; dies führt in weiterer Folge auch zu einer finanziellen Belastung des Gesundheitswesens. Diese Arbeit gibt einen Überblick über die aktuelle Literatur zu diesem Thema sowie über die Ansätze verschiedener europäischer Länder, welche die Häufigkeit der Mehrlingsschwangerschaft nach ART zu senken versuchen. Eine effiziente Vermeidung gelingt nur über Durchführung von Single-Embryo-Transfers. Die Auswahl der Patientinnen, welche mehr als einen Embryo transferiert bekommen sollen, sollte strengen und länderübergreifenden Richtlinien unterliegen.
Ästhetische und funktionelle Korrekturen im weiblichen Genitalbereich
Authors: Gress Stefan
Published: February 2007

In den vergangenen Jahren haben wir eine stetig zunehmende Anzahl an Eingriffen in der äusseren weiblichen Genitalregion durchgeführt. Darunter fielen am häufigsten Korrekturen der Schamlippen, gefolgt von Korrekturen der Klitoris und des Mons pubis. Insbesondere psychische, aber auch funktionelle Beschwerden waren ausschlaggebend für die Entscheidung zur Operation. Wie hier beschrieben, haben wir durch die grosse Fallzahl spezielle operative Techniken entwickeln können. Die Ergebnisse sind sowohl funktionell als auch ästhetisch zuverlässig und ansprechend bei geringer postoperativer Komplikationsrate und hoher Patientenzufriedenheit.
Interaction between C-Reactive Protein and Endothelin-1 in Coronary Artery Disease
Authors: Gemici Gökmen , Erdim Refik , Tokay Sena , Tezcan Hakan , Fak A. Serdar , Oktay Ahmet
Published: February 2007

Background: Increased concentrations of serum C-reactive protein (CRP) have been reported to predict major cardiovascular events in patients with coronary artery disease (CAD). Increased concentrations of endothelin-1 (ET-1) are also associated with poor prognosis after myocardial infarction. Hypothesis: We tested the hypothesis that ET-1 might contribute to CRP in prediction of adverse outcome in CAD. Methods: Serum high sensitive CRP and plasma ET-1 levels of 40 patients who have stable CAD and 25 control subjects were measured, and correlation analysis between these molecules was performed. Results: Mean high sensitive CRP was 8.64 ± 12.73 mg/l, and mean ET-1 was 8.24 ± 7.06 pg/ml in the CAD group. We found that there was no statistically significant correlation between high sensitive CRP and ET-1 in either CAD group (p = 0.82), or the control group (p = 0.85). In a subgroup of 13 patients who were not under statin treatment, we found a strong correlation between the levels of these molecules (p = 0.01). Conclusion: Our study does not clearly support or exclude a link between CRP and ET-1 in patients who have stable CAD.
Plasma Homocysteine Levels and Late Outcome in Patients with Unstable Angina
Authors: Vizzardi E. , Nodari S. , Fiorina C. , Metra M. , Dei Cas L.
Published: February 2007

Aim of the Study: Previous studies have suggested that total plasma homocysteine (HCY) is an important cardiovascular risk factor because of its interaction with vascular smooth muscle cells, endothelium function, plasma lipoprotein, coagulation factors and platelets. The aim of this study was to evaluate a possible relationship between HCY levels and the severity of coronary artery disease (CAD) and its prognostic value in patients with unstable angina (UA). Methods and Results: Ninety-four patients with UA were recruited and underwent coronary angiography and in some cases myocardial revascularization. The primary end point was the severity of CAD. The clinical end points were the recurrence of UA and the compositive end point of the occurrence of cardiac death and re-hospitalization due to acute coronary syndrome. HCY levels were shown to be poorly correlated with the severity of CAD. After 48 months’ of follow-up, a graded relationship between HCY levels and recurrence of UA and compositive end point was found (p < 0.001). Conclusions: In the light of events occurring during the follow-up period, it was concluded that total plasma HCY is a strong predictor of recurrence of UA.
ATP-Binding Cassette Transporter A1 Gene I823M Polymorphism Affects Plasma High-Density Lipoprotein Cholesterol Level and Modifies the Effect of Low High-Density Lipoprotein Cholesterol on the Risk of Coronary Artery Disease
Authors: Tsai Chia-Ti , Hwang Juey-Jen , Chiang Fu-Tien , Tseng Chuen-Den , Lin Jiunn-Lee , Tseng Yung-Zu , Lai Ling-Ping
Published: February 2007

Background: TheI823M polymorphism of the ATP-binding cassette transporter A1 (ABCA1) gene has been reported to affect plasmahigh-density lipoprotein cholesterol (HDL-C) level. Information about its relationship to coronary artery disease (CAD) is limited. Methods and Results: We included 205 patients with angiographically documented CAD and 201 controls from the general population. We found thatI823M polymorphism was a significant source of variation of HDL-C (p = 0.024 after adjustment for age, sex, body mass index, smoking and alcohol drinking). Subjects with M823/M823 homozygotes (n = 103) had a higher HDL-C than those with I823/I823 or I823/M823 genotype (n = 98) (50.5 ± 9.7 vs. 47.6 ± 10.1 mg/dl, p = 0.039). I823M polymorphism was not a predictor of CAD in multivariate analysis (adjusted odds ratio = 1.5 [0.9–2.5], p = 0.145). However, it interacted with low HDL-C level to increase the risk of CAD. The odds ratio of CAD with M823 homozygosity was 5.3 (2.0–20.0) in patients with HDL-C ≤35 mg/dl, but was only 1.0 (0.5–2.0) in those with HDL >40 mg/dl (p = 0.039 for interaction). Conclusions: M823 variant of the ABCA1 gene was associated with a higher HDL-C. Furthermore, I823M polymorphism interacted with low-HDL-C on the risk of CAD. It served as a marker to identify high-risk patients for CAD in subjects with low-HDL-C.
Thrombolysis Followed by Early Revascularization: An Effective Reperfusion Strategy in Real World Patients with ST-Elevation Myocardial Infarction
Authors: Jaffe Ronen , Halon David A. , Karkabi Basheer , Goldstein Jacob , Rubinshtein Ronen , Flugelman Moshe Y. , Lewis Basil S.
Published: February 2007

Background: Several trials suggested superiority of primary percutaneous coronary intervention (PPCI) angioplasty over thrombolysis in patients with ST-elevation myocardial infarction (STEMI), but many trials were characterized by low rates of early revascularization in patients treated with initial thrombolysis. We tested the hypothesis that in patients with hemodynamically stable STEMI, initial thrombolysis followed by an active early rescue/definitive revascularization strategy could achieve salutary short- and long-term outcomes. Methods: A prospective registry documented all 212 STEMI patients who received initial thrombolytic therapy over a 2-year period in a single medical center. Median patient age was 58 (range: 29–92) years, 47 (22%) patients were aged >70 years and 18 (8%) >80 years. Fifty-two (25%) patients underwent rescue angioplasty <6 h after thrombolysis for inadequate clinical reperfusion. In 194/212 (92%) patients, coronary angiography was performed during initial hospitalization, PCI in 168 (79%), and coronary bypass surgery in 18 (8%). Results: Thirty-day mortality was 4.7% and 1-year mortality 6.7%. Mortality was not related to diabetes mellitus, hypertension, anterior infarction location, fibrin-specific thrombolytic drug or rescue PCI. By multivariate analysis, in-hospital definitive angiography/revascularization (p < 0.0001) and TIMI risk score >3 on admission (p < 0.01) were significant independent predictors of both 30 day and 12 month outcome. Conclusions: Initial thrombolysis was useful and effective in real-world STEMI patients when coupled with an aggressive policy of rescue angioplasty and early in-hospital revascularization. Outcomes compared favorably with those reported for PPCI trials. The adverse prognosis in older patients with higher TIMI risk score suggests that in those patients alternative initial treatment strategies such as PPCI should be considered.
Valvular Heart Disease by Transthoracic Echocardiography Is Associated with Focal Brain Injury and Central Neuropsychiatric Systemic Lupus Erythematosus
Authors: Roldan Carlos A. , Gelgand Erika A. , Qualls Clifford R. , Sibbitt Jr. Wilmer L.
Published: February 2007

Background: Previous studies using transesophageal echocardiography (TEE) report an association of valvular heart disease (VHD) with cerebral infarcts and central neuropsychiatric systemic lupus erythematosus (NPSLE). However, TEE cannot be routinely used. Aim: To determine if VHD detected by transthoracic echocardiography (TTE) is associated with focal brain injury on magnetic resonance imaging (MRI) and secondarily with central NPSLE. Methods: Sixty-nine patients with systemic lupus erythematosus underwent general clinical, neuropsychiatric and laboratory evaluations followed by MRI of the brain and TTE. Results: Forty-one patients (59%) had NPSLE (stroke, transient ischemic attack, cognitive dysfunction, acute confusional state, seizures or psychosis); 46 (67%) had focal brain injury on MRI (cerebral infarcts, white matter lesions or small punctate lesions); 38 (55%) had VHD (vegetations, thickening or regurgitation). VHD was more common in patients with than in those without focal brain injury and NPSLE (all p < 0.05); focal brain lesions were more common in patients with than in those without NPSLE (all p < 0.04); and VHD was an independent predictor of focal brain lesions and NPSLE (both p < 0.04). Conclusion: In patients with systemic lupus erythematosus, VHD detected by TTE is associated with focal brain injury and NPSLE.
Intraoperative Diaphragmatic Plication during Coronary Artery Bypass
Authors: Chait Robert D.
Published: February 2007

Diaphragmatic paralysis following coronary artery bypass grafting (CABG), while often benign, can sometimes require plication. This paper describes the first reported case of intraoperative (CABG) pulmonary plication for a patient with prior diaphragmatic paralysis.