bluuebunny/crossref_metadata_2025_split huggingface dataset:
BIOMED‐2 PCR assays for IGK gene rearrangements are essential for B‐cell clonality analysis in follicular lymphoma
Authors: Payne Karen , Wright Penny , Grant John W. , Huang Yuanxue , Hamoudi Rifat , Bacon Chris M. , Du Ming‐Qing , Liu Hongxiang 
Published: July 2011

SummaryB‐cell clonality analysis is commonly performed by polymerase chain reaction (PCR) targeting the IGH genes although a high false‐negative rate is recognized for germinal centre/post‐germinal centre B‐cell malignancies, especially follicular lymphoma. We assessed the diagnostic value of BIOMED‐2 IGK assays and investigated the cause of IGH PCR failure in 77 patients with follicular lymphoma. Using the full set of BIOMED‐2 reactions, clonal immunoglobulin gene rearrangements were detected in 74 (96%) cases. The clonality detection rate was 86% by two IGK reactions but only 68% by five IGH reactions (P < 0·001). Sequencing of the clonal PCR products showed significantly fewer somatic mutations in the rearranged IGKV (9/27 cases, 33%, mean mutation rate 0·5%) than IGHV (17/17 cases, 100%, rate 11·0%) (P < 0·01). All IGHV‐IGHJ PCR failures occurred in cases with at least one mutation at the corresponding IGHV primer binding sites. t(14:18)(q32:q21)/IGH‐BCL2 was detected in 50 of 71 (70%) cases and the presence of the translocation was not associated with the poor performance of IGH assays. Our results showed that BIOMED‐2 IGK assays are significantly more sensitive than IGH assays in follicular lymphoma due to the fact that the rearranged IGKV is less frequently targeted by somatic hypermutation than IGHV, and therefore, are essential in routine clonality analysis of these lymphomas.
FADS gene variants modulate the effect of dietary fatty acid intake on allergic diseases in children
Authors: Standl M. , Sausenthaler S. , Lattka E. , Koletzko S. , Bauer C.‐P. , Wichmann H.‐E. , von Berg A. , Berdel D. , Krämer U. , Schaaf B. , Röder S. , Herbarth O. , Klopp N. , Koletzko B. , Heinrich J. ,   for the GINIplus and LISAplus Study Group
Published: July 2011

Summary
Background The association between dietary fatty acid intake and the development of atopic diseases has been inconsistent. This could be due to inter‐individual genetic differences in fatty acid metabolism.
Objective The aim of the current study was to assess the influence of FADS1 FADS2 gene cluster polymorphisms on the association between dietary fatty acid intake and atopic diseases and allergic sensitization in 10‐year‐old children.
Methods The analysis was based on data from two German prospective birth cohort studies. Data on margarine and fatty acid intake were collected using a food frequency questionnaire. Information on atopic diseases was collected using a questionnaire completed by the parents. Specific IgE against common food and inhalant allergens were measured. Six variants of the FADS1 FADS2 gene cluster (rs174545, rs174546, rs174556, rs174561, rs174575 and rs3834458) were tested. Logistic regression modelling, adjusted for gender, age, maternal education level and study centre, was used to analyse the association between fatty acid intake and atopic diseases stratified by genotype.
Results No significant association was found between the six FADS single nucleotide polymorphisms (SNPs) and allergic diseases or atopic sensitization. The total n‐3/total n‐6 ratio was positive associated with an increased risk of hayfever in homozygous major allele carriers ranging from an adjusted odds ratios of 1.25 (95%‐CI: 1.00–1.57) to 1.31 (95%‐CI: 1.01–1.69) across the six tested SNPs although this association was not significant anymore after correcting for multiple testing. Daily margarine intake was significantly associated with asthma [1.17 (1.03–1.34) to 1.22 (1.06–1.40)] in individuals carrying the homozygous major allele. This association was also significant after correcting for multiple testing.
Conclusions & Clinical Relevance The association between dietary intake of fatty acids and allergic diseases might be modulated by FADS gene variants in children.
Cite this as: M. Standl, S. Sausenthaler, E. Lattka, S. Koletzko, C.‐P. Bauer, H.‐E. Wichmann, A. von Berg, D. Berdel, U. Krämer, B. Schaaf, S. Röder, O. Herbarth, N. Klopp, B. Koletzko and J. Heinrich for the GINIplus and LISAplus Study Group, Clinical & Experimental Allergy, 2011 (41) 1757–1766.
Assessment of gonadotrophin suppression in girls treated with GnRH analogue for central precocious puberty; validity of single luteinizing hormone measurement after leuprolide acetate injection
Authors: Demirbilek Huseyin , Alikasifoglu Ayfer , Gonc Nazli E. , Ozon Alev , Kandemir Nurgun 
Published: July 2011

SummaryObjective  Intravenous GnRH stimulation test has often been used as gold standard test for the evaluation of hypothalamic–pituitary–gonadal axis in the diagnosis of central precocious puberty (CPP) and in the assessment of pubertal suppression. However, this test is time‐consuming, costly and uncomfortable for the patients. We aimed to analyse the validity of single LH sample 90 min after GnRH analogue (GnRHa) administration in the evaluation of gonadotrophin suppression during CPP therapy and to determine a cut‐off level for LH indicating adequate suppression.Design  Prospective study.Patients and Methods  One hundred and forty‐two patients with CPP were included in this study. Peak LH level during iv GnRH stimulation test after the third dose of GnRHa was compared with LH level 90 min after injection of the 3rd dose of GnRHa.Results  There was a positive correlation between LH level following a GnRHa injection and peak LH during standard iv GnRH stimulation test (r = 0·83; P < 0·0001). A LH value of 2·5 mIU/ml or less 90 min after GnRHa injection was considered to be the cut‐off for the determination of pubertal suppression (sensitivity and specificity was 100% and 88%, respectively). In 117 patients, gonadotrophin suppression was existed according to both GnRHa and iv GnRH tests. In 25 patients, gonadotrophin suppression was not found in the GnRHa test. However, 16 of them were suppressed according to the iv GnRH test.Conclusion  Single LH determination 90 min after GnRHa administration using a cut‐off level of 2·5 mIU/ml reflects pubertal suppression with a high sensitivity and specificity. However, this test may fail to show pubertal suppression in some cases. Those patients who appear to be inadequately suppressed should be reassessed using standard iv GnRH stimulation test for optimal dose adjustment.
Human spermatogonial stem cells: a possible origin for spermatocytic seminoma
Authors: Waheeb R. , Hofmann M.‐C. 
Published: July 2011

SummaryIn mammals, spermatogenesis is maintained throughout life by a small subpopulation of type A spermatogonia called spermatogonial stem cells (SSCs). In rodents, SSCs, or Asinglespermatogonia, form the self‐renewing population. SSCs can also divide into Apaired(Apr) spermatogonia that are predestined to differentiate. Apairedspermatogonia produce chains of Aaligned(Aal) spermatogonia that divide to form A1 to A4, then type B spermatogonia. Type B spermatogonia will divide into primary spermatocytes that undergo meiosis. In human, there are only two different types of A spermatogonia, the Adarkand Apalespermatogonia. The Adarkspermatogonia are considered reserve stem cells, whereas the Apalespermatogonia are the self‐renewing stem cells. There is only one generation of type B spermatogonia before differentiation into spermatocytes, which makes human spermatogenesis less efficient than in rodents. Although the biology of human SSCs is not well known, a panel of phenotypic markers has recently emerged that is remarkably similar to the list of markers expressed in mice. One such marker, the orphan receptor GPR125, is a plasma membrane protein that can be used to isolate human SSCs. Human SSCs proliferate in culture in response to growth factors such as GDNF, which is essential for SSC self‐renewal in mice and triggers the same signalling pathways in both species. Therefore, despite differences in the spermatogonial differentiation scheme, both species use the same genes and proteins to maintain the pool of self‐renewing SSCs within their niche. Spermatocytic seminomas are mainly found in the testes of older men, and they rarely metastasize. It is believed that these tumours originate from a post‐natal germ cell. Because these lesions can express markers specific for meiotic prophase, they might originate from a primary spermatocyte. However, morphological appearance and overall immunohistochemical profile of these tumours indicate that the cell of origin could also be a spermatogonial stem cell.
Identification and characterization of sources of resistance in Avena sativa, A. byzantina and A. strigosa germplasm against a pathotype of Puccinia coronata f.sp. avenae with virulence against the Pc94 resistance gene
Authors: Sánchez‐Martín J. , Rubiales D. , Sillero J. C. , Prats E. 
Published: July 2011

An isolate of Puccinia coronata f.sp. avenae with virulence against the oat crown rust resistance gene Pc94 was discovered in oat fields in Córdoba, Spain. In order to identify alternative sources of resistance to this virulent isolate, a collection of 159 Avena accessions, including 107 A. sativa and 29 A. byzantina landraces and 23 commercial A. sativa and A. strigosa cultivars, was screened. Eight resistant landraces and four cultivars were selected according to macroscopic assessment to further characterize the operative defence mechanisms. Histological studies showed a range of defence mechanisms, acting alone or in combination, which impeded fungal development at different stages. Some accessions allowed reduced fungal growth before mesophyll penetration. In others, the fungus was arrested at the penetration stage by mesophyll cell wall strengthening and/or papilla deposition. Mesophyll cells of several accessions were penetrated by the fungus, but then the hypersensitive response (HR) leading to cell death hampered fungal development. In some cases cell death was very fast and colonies aborted early, whereas in other cases necrosis was observed later and associated with numerous secondary hyphae, suggesting a slow HR. Characterization of defence mechanisms will be useful for breeding programmes and for further cellular and molecular studies to unravel the bases of resistance. Commonalities with the resistance of the same oat collection to powdery mildew are discussed.
Improved cognitive flexibility in serotonin transporter knockout rats is unchanged following chronic cocaine self‐administration
Authors: Nonkes Lourens J. P. , Maes Joseph H. R. , Homberg Judith R. 
Published: July 2011

ABSTRACTCocaine dependence is associated with orbitofrontal cortex (OFC)‐dependent cognitive inflexibility in both humans and laboratory animals. A critical question is whether cocaine self‐administration affects pre‐existing individual differences in cognitive flexibility. Serotonin transporter knockout (5‐HTT−/−) mice show improved cognitive flexibility in a visual reversal learning task, whereas 5‐HTT−/− rats self‐administer increased amounts of cocaine. Here we assessed: (1) whether 5‐HTT−/− rats also show improved cognitive flexibility (next to mice); and (2) whether this is affected by cocaine self‐administration, which is increased in these animals. Results confirmed that naïve 5‐HTT−/− rats (n = 8) exhibit improved cognitive flexibility, as measured in a sucrose reinforced reversal learning task. A separate group of rats was subsequently trained to intravenously self‐administer cocaine (0.5 mg/kg/infusion), and we observed that the 5‐HTT−/− rats (n = 10) self‐administered twice as much cocaine [632.7 mg/kg (±26.3)] compared with 5‐HTT+/+ rats (n = 6) [352.3 mg/kg (±62.0)] over 50 1‐hour sessions. Five weeks into withdrawal the cocaine‐exposed animals were tested in the sucrose‐reinforced reversal learning paradigm. Interestingly, like the naïve 5‐HTT−/− rats, the cocaine exposed 5‐HTT−/− rats displayed improved cognitive flexibility. In conclusion, we show that improved reversal learning in 5‐HTT−/− rats reflects a pre‐existing trait that is preserved during cocaine‐withdrawal. As 5‐HTT−/− rodents model the low activity s‐allele of the human serotonin transporter‐linked polymorphic region, these findings may have heuristic value in the treatment of s‐allele cocaine addicts.
Comparison of the organization of t‐tubules, sarcoplasmic reticulum and ryanodine receptors in rat and human ventricular myocardium
Authors: Jayasinghe ID , Crossman DJ , Soeller C , Cannell MB 
Published: July 2011

Summary1. It is apparent from the literature that there are significant differences in excitation–contraction coupling between species, particularly in the density of calcium transporting proteins in the t‐system and sarcoplasmic reticulum (SR) Ca2+ release channels. Unfortunately, there is a lack of information as to how the principal structures that link electrical excitation to the activation of calcium‐induced calcium release (CICR) are different between human and animal models (particularly rat).2. Comparison of wheat germ agglutinin and caveolin‐3 labelling revealed a non‐uniform distribution of surface membrane glycosylation in the rat, rabbit and human, and that the rat t‐system appeared more complex in geometry than the latter species. Analysis of the t‐system skeleton showed that the t‐system was highly branched in the rat compared with that of the human (0.8 ± 0.08 and 0.2 ± 0.07 branch points per μm2, respectively; P < 0.001).3. We also compared the distribution of contractile machinery, sodium–calcium exchange, SR and ryanodine receptors (RyR) in rat and human. F‐Actin and RyR labelling was used to estimate the area of contractile apparatus supplied by each RyR cluster. In the rat, each RyR cluster supplied an average cross‐sectional area of contractile machinery of 0.36 ± 0.03μm2 compared with 0.49 ± 0.04 μm2 in human (P = 0.048). Sarcoplasmic/endoplasmic reticulum calcium ATPase (SERCA2a) labelling showed that the SR formed a tight network of loops surrounding contractile fibrils that were denser than the t‐tubule network, but otherwise appeared similar in both species.4. In general, the results show a higher density in structures involved in CICR in the rat compared with human.
Diagnosis in developmental–behavioural paediatrics: The art of diagnostic formulation
Authors: O'Keeffe Mick , Macaulay Caroline 
Published: July 2011

AbstractThis paper considers diagnostic frameworks in developmental–behavioural paediatrics. The purpose of a diagnostic assessment is reviewed, and the use of categorical diagnoses is explored. A multi‐level process of diagnostic formulation is outlined, highlighting the importance of a comprehensive focus on presenting symptoms, neuropsychological constructs, biological factors and environmental influences. The axis of time, developmental benchmarks and the enhancement of resilience are discussed as part of the diagnostic formulation framework. Limitations imposed on diagnostic practice by systemic and personal factors are reviewed. Implications for training and practice are discussed.
What makes patients perceive their health care worker as an epistemic authority?
Authors: Barnoy Sivia , Ofra Levy , Bar‐Tal Yoram 
Published: July 2011

BARNOY S, OFRA L and BAR‐TAL Y. Nursing Inquiry 2012; 19: 128–133 [Epub ahead of print]What makes patients perceive their health care worker as an epistemic authority?Health care workers’ (HCW) perceived epistemic authority (EA) may have an effect on patient decision‐making and compliance. The present study investigated the hypotheses that higher EA is attributed to staff perceived to be experts; to physicians rather than nurses; to HCWs who recommend taking a test more than to the ones who make no recommendation. The study was based on a factorial 2 × 2 × 2 within‐between subjects design. The questionnaire presented four scenarios, each illustrating a HCW presenting information on a devastating genetic disease. The three variables manipulated were: HCW expertise, HCW role, and making a recommendation or not. After each scenario participants were asked questions about the EA they attributed to the HCW in the scenario. The results show main effects for perceived expertise and recommendation/no recommendation on the level of EA attributed. Expert nurses were judged to have the same high EA as expert physicians. But expert physicians who recommended taking a test were judged as having significantly higher EA than expert physicians who made no recommendation. Among nurses who made no recommendation, expert nurses were evaluated as having significantly higher EA than novices. Since expert nurses were perceived to have equal expertise as expert physicians, it follows that information given by both nurses and physicians can reduce patient uncertainty.
Investigating the adverse respiratory effects of beta‐blocker treatment: six years of prospective longitudinal data in a cohort with cardiac disease
Authors: Cochrane B. , Quinn S. , Walters H. , Young I. 
Published: July 2011

AbstractBackground:  Globally, cardiovascular disease (CVD) is the leading cause of death. Beta‐blocker medications have well‐established survival benefit for myocardial infarction and heart failure. However, CVD frequently coexists with chronic obstructive airways disease (COPD), a disease in which beta‐blockers are traditionally avoided.Aim:  We sought to investigate the adverse respiratory effects associated with long‐term beta‐blocker treatment in patients with cardiac disease, and presumed high risk of COPD.Methods:  In this prospective cohort study, patients admitted with acute cardiac disease were recruited from the cardiology unit of a tertiary referral hospital. The treating cardiologist determined beta‐blocker treatment, independent of the study. Repeated measures of spirometry and respiratory symptom scores were assessed over 12 months. Respiratory exacerbations, cardiac events and survival were recorded over 6 years. Outcomes were compared according to beta‐blocker exposure.Results:  Sixty‐four subjects participated, 30 of whom received beta‐blockers. Beta‐blockers did not adversely affect spirometry, respiratory symptoms or survival. However, considering two categories of respiratory exacerbations (symptom‐based vs treated), subjects taking beta‐blockers accumulated increased annual risk (relative risk (RR) 1.30, 95% confidence interval (CI) 1.11–1.53, P= 0.001 and RR 1.37, 95% CI 1.09–1.72, P= 0.008) and concluded with overall increased risk (RR 3.67, 95% CI 1.65–8.18, P= 0.001 and RR 4.03, 95% CI 1.26–12.9, P= 0.019), when compared with the group not taking beta‐blockers.Conclusion:  Long‐term beta‐blocker treatment did not adversely affect lung function, respiratory symptom scores or survival, but was associated with increased risk of respiratory exacerbations.
Effects of combined estrogen and progesterone replacement treatment on detrusor contractility and histology in oophorectomized rats
Authors: Etiz Sayharman Sema , Tosun Nihan , Aka Nurettin , Köse Gültekin , Tekin Ali , Gören Zafer 
Published: July 2011

AbstractAim:  The aim of this study was to investigate the effects of estrogen plus progesterone treatment administered after surgical menopause on morphological and muscarinic receptor sensitivity in detrusor muscle bands of rats.Materials and Methods:  A total of 40 female Albino–Wistar rats were assigned into two groups to undergo surgical menopause with sham operation (n = 10) and bilateral oophorectomy (n = 30). Thirty oophorectomized rats were assigned into three groups for different treatments administered for 8 weeks beginning from the 7th postoperative day. At the end of the 8th postoperative week, laparotomy was performed in all of them and the urinary bladders were excised and investigated with light microscope. All statistical analysis and graphs were performed using GraphPad Prism version 4. P < 0.05 was considered to be statistically significant.Results:  It was determined that average bodyweights were increased to some extent in oophorectomized and sham groups after treatment and while it was more marked in the group receiving estrogen therapy, bodyweights were decreased in the group receiving estrogen plus progesterone therapy. However, this was not statistically significant. No statistically significant difference was determined between the sham, placebo and 17‐β estradiol treatment groups regarding contractile response of urinary bladder tapes to carbachol (P > 0.05). Contractile responses of urinary bladder tapes of the estrogen plus progesterone treatment group were found to be statistically lower than the placebo group (P < 0.05).Conclusion:  Our in vitro findings demonstrate that treatment with estrogen plus progesterone decreases muscarinic activity in oophorectomized rats, whereas estrogen‐only treatment does not. Our study establishes the basis for further studies to answer whether combination of estrogen and progesterone treatment can restore detrusor overactivity associated with sex hormone defects seen at menopause.
Small cell carcinoma of the endometrium: A report of two cases
Authors: Matsumoto Harunobu , Takai Noriyuki , Nasu Kaei , Narahara Hisashi 
Published: July 2011

AbstractPrimary small cell carcinoma of the endometrium is rare and has an extremely poor prognosis. This report describes two cases of small cell carcinoma of the endometrium diagnosed as stage III. Case 1 was diagnosed as stage IIIc. She underwent surgery and chemotherapy. For a locally recurrent tumor, she received radiotherapy. She has been well with no evidence of disease for 4 years. Case 2 was diagnosed as stage IIIa. She underwent surgery. The tumor recurred soon after the surgery, and she died 33 days after the surgery. In the literature, the median survival reported for patients with stage III and IV is only 5 months. Case 1 is the 4th case showing long‐term survival with advanced‐stage disease. The optimal treatment for this rare tumor has not been established. Considering its rarity and variability, it is difficult to establish an evidence‐based therapeutic regimen.
Acquisition of anti‐Diego b antibodies possibly resulting from feto‐maternal hemorrhage during pregnancy
Authors: Oishi Yuriko , Watanabe Noriyoshi , Ozawa Nobuaki , Sago Haruhiko 
Published: July 2011

AbstractAnti‐Diego b (Dib) antibodies, rare antibodies against red blood cell antigens, can cause severe hemolysis. We report a patient who most likely acquired anti‐Dib antibodies during pregnancy. The patient was a 39‐year‐old Japanese woman who delivered by cesarean section at 38 weeks of gestation. She required a second operation to treat re‐bleeding of the surgical scar, but it was difficult to schedule this surgery because we could not obtain enough blood for transfusion due to the presence of anti‐Dib antibodies. These antibodies were likely acquired during pregnancy; she did not have irregular antibodies at 11 weeks of gestation. We speculate that she became sensitized to fetal blood due to feto‐maternal hemorrhage. The infant had no hemolytic conditions. Testing for the presence of irregular antibodies should be performed during late stages of pregnancy as well as early stages.