bluuebunny/crossref_metadata_2025_split huggingface dataset:
Successful allogeneic stem cell transplantation with a reduced‐intensity conditioning in a leukocyte adhesion deficiency type I patient
Authors: Hamidieh Amir Ali , Pourpak Zahra , Alimoghaddam Kamran , Movahedi Masoud , Bahoush Gholamreza , Behmanesh Fatemeh , Moin Mostafa , Ghavamzadeh Ardeshir 
Published: November 2009

Hamidieh AA, Pourpak Z, Alimoghaddam K, Movahedi M, Bahoush G, Behmanesh F, Moin M, Ghavamzadeh A. Successful allogeneic stem cell transplantation with a reduced‐intensity conditioning in a leukocyte adhesion deficiency type I patient. Pediatr Transplantation 2011: 15:E30–E33. © 2009 John Wiley & Sons A/S.Abstract:  LAD‐I is a rare, autosomal recessive, primary immunodeficiency in which phagocyte adhesion and chemotaxis are impaired. Multiple infections in the absence of pus accumulation and persistent elevated peripheral blood neutrophil counts are the hallmark of LAD‐I. Allogeneic HSCT is the only treatment proved to be potentially curative for phagocyte adhesion impairment in LAD‐I. Here, we report on a case of a 30‐month‐old girl with LAD‐I, in whom peripheral blood stem cell from a genotypically identical sibling resulted in mixed chimerism.
Detection of prion gene promoter and intron1 indel polymorphisms in Anatolian water buffalo (Bubalus bubalis)
Authors: Oztabak K. , Ozkan E. , Soysal I. , Paya I. , Ün C. 
Published: November 2009

SummaryBovine spongiform encephalopathy (BSE) is a fatal disease caused by miss folded prion protein. Studies in the cattle, comparing genetic data from BSE diseased and healthy animals have shown that indel polymorphisms in the promoter and intron 1 of PRNP gene were associated with disease susceptibility. Several studies were conducted to find out allele and genotypic frequencies of indel polymorphisms in promoter and intron 1 of the cattle PRNP gene. Unlike domestic cattle and bison, no indel polymorphisms of the PRNP promoter and intron 1 were examined in any population of the water buffalo (Bubalus bubalis). Aim of this study was to analyse frequencies of allele, genotype, and haplotype of the indel polymorphisms (23 bp indel in promoter and 12 bp indel in intron 1) in prion protein coding gene (PRNP) of water buffalo. Therefore a PCR based procedure, previously used in cattle to detect indel polymorphisms of PRNP promoter and intron 1 locus, was applied to 106 Anatolian water buffalo DNAs. Our results have revealed high frequency of in variants and in23/in12 haplotype for PRNP promoter and intron 1 indel polymorphisms in water buffalo. The results of the study have demonstrated that frequencies of allele, genotype, and haplotype of the indel polymorphisms in PRNP gene of the Anatolian water buffalo are significantly different those from cattle and bison PRNP indel polymorphisms.
A quantitative trait locus for faecal worm egg and blood eosinophil counts on chromosome 23 in Australian goats
Authors: Bolormaa S. , Van Der Werf J.H.J. , Walkden‐Brown S.W. , Marshall K , Ruvinsky A. 
Published: November 2009

SummaryThree microsatellite markers on goat chromosome 23 adjacent to the MHC were used to test for quantitative trait loci (QTL) affecting faecal worm egg count (WEC) and leukocyte traits in ten Australian Angora and twelve Australian Cashmere half‐sib families (n = 16–57 per family). Data were collected from 280 Angora and 347 Cashmere kids over a 3‐ and 4‐year period. A putative QTL affecting trichostrongyle WEC was found in two small families at the 5% chromosome‐wise threshold level. The biggest QTL effect for WEC of 1.65 standard deviations (σp) was found within the region of OarCP73‐BM1258. A significant QTL affecting blood eosinophil counts at the 1% chromosome–wise threshold level was detected at marker BM1258 (at 26 cM) in two Angora and Cashmere families. The magnitude of the putative QTL was 0.69 and 0.85 σp in Angora and Cashmere families, respectively. Due to the comparatively low power of the study these findings should be viewed as indicative rather than definitive.
Molecular tests for coat colours in horses
Authors: Rieder Stefan 
Published: November 2009

SummaryColour phenotypes may have played a major role during early domestication events and initial selection among domestic animal species. As coat colours mostly follow a relatively simple mode of Mendelian inheritance, they have been among the first traits to be systematically analysed at the molecular level. As a result of the number of genetic tools developed during the past decade, horse coat colour tests have been designed and are now commercially available for some of the basic phenotypes. These tests enable breeders to verify segregation within particular pedigrees, to select specific colour phenotypes according to market demand or studbook policies and to avoid complex inherited diseases associated with some of the colour patterns. This paper reviews the relevance of the topic, describes all currently available tests for coat colours in horses and addresses also ongoing research in this field.
Marker‐assisted selection reduces expected inbreeding but can result in large effects of hitchhiking
Authors: Pedersen L.D. , Sørensen A.C. , Berg P. 
Published: November 2009

SummaryWe used computer simulations to investigate to what extent true inbreeding, i.e. identity‐by‐descent, is affected by the use of marker‐assisted selection (MAS) relative to traditional best linear unbiased predictions (BLUP) selection. The effect was studied by varying the heritability (h2 = 0.04 vs. 0.25), the marker distance (MAS vs. selection on the gene, GAS), the favourable QTL allele effect (α = 0.118 vs. 0.236) and the initial frequency of the favourable QTL allele (p = 0.01 vs. 0.1) in a population resembling the breeding nucleus of a dairy cattle population. The simulated genome consisted of two chromosomes of 100 cM each in addition to a polygenic component. On chromosome 1, a biallelic QTL as well as 4 markers were simulated in linkage disequilibrium. Chromosome 2 was selectively neutral. The results showed that, while reducing pedigree estimated inbreeding, MAS and GAS did not always reduce true inbreeding at the QTL relative to BLUP. MAS and GAS differs from BLUP by increasing the weight on Mendelian sampling terms and thereby lowering inbreeding, while increasing the fixation rate of the favourable QTL allele and thereby increasing inbreeding. The total outcome in terms of inbreeding at the QTL depends on the balance between these two effects. In addition, as a result of hitchhiking, MAS results in extra inbreeding in the region surrounding QTL, which could affect the overall genomic inbreeding.
Development of a method for simultaneously genotyping multiple horse coat colour loci and genetic investigation of basic colour variation in Thoroughbred and Misaki horses in Japan
Authors: Kakoi H. , Tozaki T. , Nagata S. , Gawahara H. , Kijima‐Suda I. 
Published: November 2009

SummaryIn order to develop a genotyping method that can be used in the registration procedure for Thoroughbreds, we developed a method for simultaneously genotyping multiple coat colour genes on the basis of single nucleotide polymorphism typing by using the SNaPshotTM technique. This method enabled precise and reasonable detection of causal mutations; it was effective for genotyping of MC1R, ASIP, and SLC45A2 at the Extension (E), Agouti (A), Cream dilution (C) loci, and the possibility of identification of rare variants of MC1R, EDNRB and KIT at the E, Overo (O) and Sabino 1 (SB1) loci, respectively, was also indicated. It was considered that this genotyping method would provide information not only for the registration of Thoroughbreds but also for the preservation of phenotypic characters, such as coat colour, of endangered Misaki native horses in Japan. Therefore, genetic variations at the five coat colour loci were investigated in 1111 Thoroughbred and 99 Misaki native horses. Allele frequencies at the polymorphic E and A loci were estimated, and the proportions of basic coat colours that could be expected in the Thoroughbred population were bay, 0.662; black, 0.070; chestnut, 0.268. In the Misaki population, they were bay, 0.792; black, 0.129; chestnut, 0.080. The data presented were the first of its kind on genetic coat colour variation, and will be important with regard to the registration of Thoroughbreds and the management of Misaki horses.
Lectin‐binding Sites on the Normal and Pathologic Uterus of Sows
Authors: Sant’Ana FJF , Nascimento EF , Andrés Laube PF , Gimeno EJ , Barbeito CG 
Published: November 2009

ContentsThe lectin‐binding pattern was compared in the normal and pathological uterus of sows during the ovarian cycle. The following biotinylated lectins were used: Con A, DBA, SBA, PNA, RCA‐I, UEA‐I and WGA. Glycoconjugate labelling showed differences between phases of ovarian cycle and presence of morphologic lesions. Cystic endometrial hyperplasia increased the RCA‐I reaction in the apical region of the glandular epithelium. There was higher intensity of labelling of WGA in the glandular epithelium in uteri with endometritis. In addition, increased Con A binding in the glandular epithelium and mild reduction of UEA‐I reactivity in the glycocalyx of the glandular epithelium were detected in the cases of endometritis. The results of this study show that morphologic alterations modify the sugar pattern in the porcine uterus. These modifications in glycoconjugates may be one of the reasons for decreased fertility in sows.
Evaluation of Efficacy and Safety of Zinc Gluconate Associated with Dimethyl Sulphoxide for Sexually Mature Canine Males Chemical Neutering
Authors: Soto FRM , Viana WG , Mucciolo GCB , Hosomi FYM , Vannucchi CI , Mazzei CP , Eyherabide AR , De Fátima Lúcio C , Dias RA , De Azevedo SS 
Published: November 2009

ContentsThe aim of this research was to evaluate the efficacy of zinc gluconate associated with dimethyl sulphoxide (DMSO) for chemical neutering in canine males. Fifteen sexually mature male dogs were divided in two groups, named control and treated. An injection was administered to both testicles, at a concentration of 26.2 mg zinc gluconate per ml and 0.5% DMSO in the treated group (11 dogs). The control group was given injections of saline solution (four dogs). Clinical examination and blood collection for a haemogram were done both before and after drug injection. There were 12 spermograms performed to analyse sperm motility, sperm vigour, ejaculate volume, testicle size, pathology and sperm concentrations. Libido was also measured. An ultrasound examination and histopathology were performed at the end of the experiment. Dogs’ libido after chemical injection was reduced by over 50%. The spermogram analysis showed final mean results of 14.54% for sperm motility, 0.72 of sperm vigour and 37 150 per million spermatozoa per millilitre, values considered below the necessary levels at which fertilization can occur. Ultrasound and histopathology analyses of testicles for the treated group revealed more intense injuries when compared with the control group, with compromised testicular parenchyma and a decrease of germ cell number leading to total atrophy, indicating that the treatment reduced the fertilizing potential of male dogs, promoting a possible subfertile status.
Head growth evaluation in early childhood, from the Japan Children's Study
Authors: Sawada Akiko , Ikeda Hiroko , Kimura‐Ohba Shihoko , Matsuzawa Shigeyuki , Awaya Tomonori , Shiotani Yuka , Okada Masako , Tomiwa Kiyotaka 
Published: November 2009

AbstractBackground:  Head circumference (HC) trajectories are held to reflect neurological development and the acquirement of intelligence. It is important to assess HC growth accurately because atypical HC growth is an indicator of various developmental disorders. HC growth is determined by both familial and physical factors but, hitherto, no one has considered both factors together. The aim of the present study was thus to investigate the relationship between HC, physical growth, and parental HC.Methods:  The study group in the Japan Children's Study consisted of 192 healthy full‐term Japanese children. HC (maximum occiptofrontal circumference), height and bodyweight were measured at the ages of 4, 9 and 18 months. Multiple regression analysis were conducted predicting the HC from the body measurements and mid‐parental HC (defined as the average of standardized paternal and maternal HC).Results:  Adjusted multiple R2 were 0.336, 0.307 and 0.259, measured at the aforementioned three stages. Bodyweight and mid‐parental HC predicted the HC on each occasion (P < 0.01). Bodyweight was more relevant than mid‐parental HC.Conclusions:  HC growth is influenced by physical growth and parental HC; therefore, it is important to consider both physical and familial factors. A formula is herein proposed to assess HC using bodyweight and mid‐parental HC.
Tumour budding correlates with local recurrence of rectal cancer
Authors: Syk E. , Lenander C. , Nilsson P. J. , Rubio C. A. , Glimelius B. 
Published: November 2009

AbstractAim  Predictive tools for local recurrence (LR) of rectal cancer are needed. This study assessed the predictive value of tumour budding detected by MNF‐116 and laminin‐5 γ2 chain (Ln‐5 γ2).Method  In a case–control study, the surgical specimens of 48 patients with LR after from primary resection of rectal carcinoma and 82 control patients matched for gender and preoperative radiation from a population of 1180 patients operated with total mesorectal excison were studied. The presence of budding was examined using immunohistochemistry with Ln‐5 γ2 and pan‐cytokeratin staining with MNF‐116.Results  Tumour budding counts ranged from 0 to 106 buds (mean 43, median 38) for all patients. Significantly more tumours with more than 35 buds were seen in the LR than in the control group (67 vs 44%; P = 0.02). The spread of budding was also more extensive in the LR than in the control group (63 vs 49%, P = 0.03). In a multivariate analysis with tumour, node, metastasis stage, MNF‐116‐stained budding was an independent predictor of local failure (P = 0.02). The budding frequency was higher in irradiated tumours in comparison with tumours that had not received irradiation (mean 53 vs 38, P = 0.03). For Ln‐5 γ2, more tumours with ≥10 buds were seen in the group with LR than among the control patients, but this difference was not statistically significant (73 vs 57%; P = 0.09). No additive value was found in the multivariate logistic regression model when Ln‐5 γ2‐stained budding frequency was added to MNF‐116 and tumour, node, metastasis stage. The agreement between budding frequency determined by MNF‐116 and Ln‐5 γ2 was moderate, with a κ‐coefficient of 0.34 (0.16–0.51).Conclusion  Tumour budding determined by MNF‐116 staining may serve as a predictive marker for LR in rectal cancer.
Changes in alkaline phosphatase levels in patients with prostate cancer receiving degarelix or leuprolide: results from a 12‐month, comparative, phase III study
Authors: Schröder Fritz H. , Tombal Bertrand , Miller Kurt , Boccon‐Gibod Laurent , Shore Neal D. , Crawford E. David , Moul Judd , Olesen Tine Kold , Persson Bo‐Eric 
Published: November 2009

Study Type – Therapy (RCT) Level of Evidence 1bOBJECTIVETo compare the activity of degarelix, a new gonadotrophin‐releasing hormone (GnRH) blocker, with leuprolide depot 7.5 mg in the control of total serum alkaline phosphatase (S‐ALP) levels in patients with prostate cancer.PATIENTS AND METHODSIn the randomized, phase III trial (CS21), patients with histologically confirmed prostate cancer (all stages), were randomized to one of three regimens: degarelix subcutaneous 240 mg for 1 month followed by monthly maintenance doses of 80 mg or 160 mg, or intramuscular leuprolide 7.5 mg/month. Patients receiving leuprolide could also receive antiandrogens for flare protection. We report exploratory S‐ALP analyses from CS21, focusing on the comparison of degarelix 240/80 mg with leuprolide 7.5 mg, in line with the recent approvals of this dose by the USA Food and Drug Administration and the European Medicines Agency.RESULTSOverall, 610 patients were included, with a median age of 73 years and median prostate‐specific antigen (PSA) level of 19.0 ng/mL. Baseline S‐ALP levels were high in metastatic patients and highest in patients with metastatic disease and a haemoglobin level of <13 g/dL. In metastatic disease, after initial peaks in both groups, S‐ALP levels were suppressed below baseline with degarelix but were maintained around baseline with leuprolide. The late rise in S‐ALP seen with leuprolide was not apparent with degarelix. The pattern of S‐ALP response was similar in patients with a baseline PSA level of ≥50 ng/mL. Between‐treatment differences in patients with metastatic disease and those with a PSA level of ≥50 ng/mL were significant at day 364 (P = 0.014 and 0.007, respectively).CONCLUSIONPatients with metastatic disease or those with PSA levels of ≥50 ng/mL at baseline had greater reductions in S‐ALP levels with degarelix than with leuprolide. Patients in the degarelix group maintained S‐ALP suppression throughout the study, in contrast to those in the leuprolide group. This suggests that degarelix might offer better S‐ALP control than leuprolide and might prolong control of skeletal metastases, compared with GnRH agonists, over a 1‐year treatment period.
Effect of fluid management on fluid intake and urge incontinence in a trial for overactive bladder in women
Authors: Zimmern Philippe , Litman Heather J. , Mueller Elizabeth , Norton Peggy , Goode Patricia 
Published: November 2009

Study Type – Therapy (RCT) Level of Evidence 1bOBJECTIVESTo explore whether instruction in fluid management resulted in changes in fluid intake and incontinence over a 10‐week study period in women with urinary urge incontinence (UUI), as fluid management might be a critical strategy in treating this condition.PATIENTS AND METHODSIn the ‘Behaviour Enhances Drug Reduction of Incontinence’ trial, women with predominant UUI were randomized to daily treatment with tolterodine or tolterodine combined with behavioural therapies, among which were individualized instructions on fluid management. Patients in both groups received general fluid management instructions, while in the drug + behaviour arm, those with excessive urine output (>2.1 L/day) had additional individualized instruction during each of four study visits to learn behavioural strategies. Variables measured at baseline and at 10 weeks were type of incontinence, using the Medical, Epidemiological, and Social Aspects of Aging questionnaire, severity of incontinence by number of incontinence episodes based on a 7‐day diary, number of voids/24 h (F24), urgency rating, 24‐h fluid intake (I24) and 24‐h volume voided (V24), volume average (Vavg), pad use, bothersomeness of UUI (Urogenital Distress Inventory and Overactive Bladder questionnaire), and quality of life (Incontinence Impact Questionnaire‐7 and Short‐Form‐12).RESULTSLeakage episodes/24 h, V24, I24 and average urgency ratings all significantly decreased from baseline to 10 weeks (P < 0.001 for each). Vavg increased (P < 0.001), as did voids/L intake (P = 0.01). None of the changes in diary variable outcomes differed by treatment group after accounting for these changes between baseline and 10 weeks. In a multivariable model, treatment group was not associated with change in V24 from baseline to 10 weeks (P = 0.81), but the difference in the number of accidents/diary day, F24, I24, and average voids/day each were positively related with the change in V24 (P < 0.001 for each). Patients had a response to fluid management instructions; the decrease in the percentage of women with a V24 of >2.1 L between baseline and follow‐up was statistically significant (P = 0.01 McNemar’s test).CONCLUSIONGeneral fluid instructions can contribute to the reduction in UUI symptoms for women taking anticholinergic medications, but additional individualized instructions along with other behavioural therapies did little to further improve the outcome.
Pelvic floor dysfunction is not a risk factor for febrile urinary tract infection in adults
Authors: Van Nieuwkoop Cees , Voorham‐van der Zalm Petra J. , Van Laar Anne‐Marike , Elzevier Henk W. , Blom Jeanet W. , Dekkers Olaf M. , Pelger Rob C.M. , Van Aartrijk‐van Dalen A. Mieke , Van Tol Marjanne C. , Van Dissel Jaap T. 
Published: November 2009

Study Type – Therapy (case control) Level of Evidence 3bOBJECTIVETo determine whether pelvic floor dysfunction (PFD) might be a risk factor for or consequence of febrile urinary tract infection (UTI), as UTI in adults is a common infection in which an underlying urological abnormality is often considered, and as in children, PFD is also thought to have a pathophysiological role in adults with UTI.PATIENTS AND METHODSA multicentre case‐control study was conducted at 26 primary‐care centres and at six Emergency Departments of regional hospitals. Cases were consecutive patients aged ≥18 years, who presented with febrile UTI. Controls were randomly selected subjects who visited their general practitioner for reasons other than UTI or fever. A validated pelvic floor questionnaire (the Pelvic Floor Inventories Leiden, PelFIs) was used to assess pelvic floor function.RESULTSBetween October 2006 and December 2007, 153 cases were included; of these, the completed questionnaires of 102 (response rate 67%) were compared to those of 100 of 110 (response rate 91%) controls. The median age of cases and controls was 65 and 58 years, respectively; 40% of cases and controls were men. The percentage of PelFIs outcomes consistent with PFD were comparable between cases and controls, at 21% vs 23%, respectively (odds ratio 0.9, 95% confidence interval, CI, 0.4–1.78). In the multivariate analysis, comorbidity (odds ratio 4.9, 95% CI 2.2–11.1) and a history of UTI (odds ratio 2.5, 95% CI 1.0–6.1) were independent significant risk factors for febrile UTI, whereas PFD was not (odds ratio 1.0, 0.5–2.2). Within the group of cases, PFD was not associated with bacteriuria during assessment of PelFIs (odds ratio 1.1, 95% CI 0.4–3.5) and inversely related to a history of UTI within the previous year (odds ratio 0.2, 0.1–0.9).CONCLUSIONSPFD is common among adults but it does not seem to be a risk factor for febrile UTI.