bluuebunny/crossref_metadata_2025_split huggingface dataset:
Accuracy of imputation of single nucleotide polymorphism marker genotypes from low‐density panels in Japanese Black cattle
Authors: Ogawa Shinichiro , Matsuda Hirokazu , Taniguchi Yukio , Watanabe Toshio , Takasuga Akiko , Sugimoto Yoshikazu , Iwaisaki Hiroaki 
Published: May 2015

AbstractUsing target and reference fattened steer populations, the performance of genotype imputation using lower‐density marker panels in Japanese Black cattle was evaluated. Population imputation was performed using BEAGLE software. Genotype information for approximately 40 000 single nucleotide polymorphism (SNP) markers by Illumina BovineSNP50 BeadChip was available, and imputation accuracy was assessed based on the average concordance rates of the genotypes, varying equally spaced SNP densities, and the number of individuals in the reference population. Two additional statistics were also calculated as indicators of imputation performance. The concordance rates tended to be lower for SNPs with greater minor allele frequencies, or those located near the ends of the chromosomes. Longer autosomes yielded greater imputation accuracies than shorter ones. When SNPs were selected based on linkage disequilibrium information, relative imputation accuracy was slightly improved. When 3000 and 10 000 equally spaced SNPs were used, the imputation accuracies were greater than 90% and approximately 97%, respectively. These results indicate that combining genotyping using a lower‐density SNP chip with genotype imputation based on a population of individuals genotyped using a higher‐density SNP chip is a cost‐effective and valid approach for genomic prediction.
Liver transplant associated with paracetamol overdose: results from the seven‐country SALT study
Authors: Gulmez Sinem Ezgi , Larrey Dominique , Pageaux Georges‐Philippe , Bernuau Jacques , Bissoli Franco , Horsmans Yves , Thorburn Douglas , McCormick P. Aiden , Stricker Bruno , Toussi Massoud , Lignot‐Maleyran Séverine , Micon Sophie , Hamoud Fatima , Lassalle Régis , Jové Jérémy , Blin Patrick , Moore Nicholas 
Published: May 2015

AimsAcute drug overdose, especially with paracetamol, may cause acute liver failure leading to registration for transplantation (ALFT). Population statistics and between‐country differences for ALFT related to overdose have been poorly described. The aim of the present study was to evaluate overdose ALFT in the multi‐country Study of Acute Liver Transplantation (SALT).MethodsAll adult overdose‐related ALFT, with or without suicidal intent, in France, Greece, Ireland, Italy, the Netherlands, Portugal and the UK between 2005 and 2007 were identified from liver transplant registries and hospital records. These were compared with whole‐country and per capita use of paracetamol.ResultsSix hundred cases of ALFT were identified in 52 of 57 eligible transplant centres, of which 114 involved overdose (72 intentional, 10 non‐intentional, 32 uncertain). Overdose represented 20% of all‐cause ALFT: Ireland 52%, UK 28%, France 18%, the Netherlands 8%, and Italy 1%. Overdose ALFT were mostly females (61%), mean age 33.6 ± 10.9 years. A total of 111 (97%) of the overdoses involved paracetamol. Event rates ranged from one ALFT for 20.7 tons of paracetamol in Ireland, to one for 1074 tons in Italy and one case in 60 million inhabitants over 3 years in Italy to one case in 286 000 inhabitants per year in Ireland. Per‐country event rates for non‐overdose ALFT exposed to paracetamol were between 2.5 and 4.0 per million treatment‐years sold.ConclusionsParacetamol overdose was found to represent one‐sixth of all‐cause ALFT. There was a 50‐fold difference in Europe in the rates of paracetamol overdose ALFT, and a 200‐fold difference per million inhabitants.
Group cognitive analytic therapy for female survivors of childhood sexual abuse
Authors: Calvert Rachel , Kellett Stephen , Hagan Theresa 
Published: May 2015

ObjectivesThe effectiveness of cognitive analytic therapy delivered in groups has been under‐researched considering the popularity of the approach. This study sought to investigate the effectiveness of 24 sessions of group cognitive analytic therapy (GCAT) delivered in routine practice for female survivors of childhood sexual abuse (CSA).MethodsIn a longitudinal cohort design, N = 157 patients were treated with 24 sessions of GCAT. Validated outcome measures were administered at assessment, pre‐GCAT, and post‐GCAT. This enabled rates of reliable and clinically significant change to be compared between wait time and active group treatment. The uncontrolled treatment effect size was then benchmarked against outcomes from matched studies.ResultsOn the primary outcome measure, GCAT facilitated a moderate effect size of 0.34 with 11% of patients completing treatment meeting ‘recovery’ criteria. The dropout rate was 19%. Significant improvements in interpersonal functioning, anxiety, and well‐being occurred during GCAT in comparison with wait time on secondary outcome measures.ConclusionsGroup cognitive analytic therapy appears a promising intervention for adult female CSA survivors, with further controlled evaluation indicated.Practitioner points

Group cognitive analytic therapy appears a promising and acceptable intervention for female CSA survivors experiencing high levels of psychological distress.

Long‐term follow‐up studies are required with CSA survivors to index the clinical durability of GCAT.

A GCAT treatment fidelity measure needs to be developed and evaluated.
The clinical impact of IKZF1 deletions in paediatric B‐cell precursor acute lymphoblastic leukaemia is independent of minimal residual disease stratification in Nordic Society for Paediatric Haematology and Oncology treatment protocols used between 1992 and 2013
Authors: Olsson Linda , Ivanov Öfverholm Ingegerd , Norén‐Nyström Ulrika , Zachariadis Vasilios , Nordlund Jessica , Sjögren Helene , Golovleva Irina , Nordgren Ann , Paulsson Kajsa , Heyman Mats , Barbany Gisela , Johansson Bertil 
Published: May 2015

SummaryPaediatric B‐cell precursor acute lymphoblastic leukaemias (BCP ALL) with IKZF1 deletions (∆IKZF1) are associated with a poor outcome. However, there are conflicting data as to whether ∆IKZF1 is an independent risk factor if minimal residual disease (MRD) and other copy number alterations also are taken into account. We investigated 334 paediatric BCP ALL, diagnosed 1992–2013 and treated according to Nordic Society for Paediatric Haematology and Oncology ALL protocols, with known IKZF1 status based on either single nucleotide polymorphism array (N = 218) or multiplex ligation‐dependent probe amplification (N = 116) analyses. ∆IKZF1, found in 15%, was associated with inferior 10‐year probabilities of event‐free (60% vs. 83%; P < 0·001) and overall survival (pOS; 73% vs. 89%; P = 0·001). Adjusting for known risk factors, including white blood cell (WBC) count and MRD, ∆IKZF1 was the strongest independent factor for relapse and death. ∆IKZF1 was present in 27% of cases with non‐informative cytogenetics (‘BCP‐other’) and a poor 10‐year pOS was particularly pronounced in this group (58% vs. 90%; P < 0·001). Importantly, neither MRD nor WBC count predicted events in the ∆IKZF1‐positive cases. Co‐occurrence of pseudoautosomal region 1 (PAR1) deletions in Xp22.33/Yp11.32 (P2RY8‐CRLF2) and ∆IKZF1 increased the risk of relapse (75% vs. 30% for cases with only ∆IKZF1; P = 0·045), indicating that BCP‐other ALL with both P2RY8‐CRLF2 and ∆IKZF1 constitutes a particularly high‐risk group.
Red blood cell sodium transport in patients with cirrhosis
Authors: Henriksen Ulrik Lütken , Kiszka‐Kanowitz Marianne , Bendtsen Flemming , Henriksen Jens H. 
Published: May 2015

SummaryPatients with advanced cirrhosis have abnormal sodium homoeostasis. The study was undertaken to quantify the sodium transport across the plasma membrane of red blood cells (RBC) in patients with cirrhosis. RBC efflux and influx of sodium were studied in vitro with tracer 22Na+ according to linear kinetics in 24 patients with cirrhosis and 14 healthy controls. The sodium efflux was modified by ouabain (O), furosemide (F) and a combination of O and F (O + F). RBC sodium was significantly decreased (4·6 versus control 6·3 mmol l−1, P<0·001) and directly related to serum sodium (r = 0·57, P<0·05). The RBC fractional sodium efflux was higher in patients with cirrhosis (+46%, P<0·01) compared to controls. Inhibition in both high (145 mmol l−1)‐ and low (120 mmol l−1)‐sodium buffers showed that the F‐insensitive sodium efflux was twice as high in cirrhosis as in controls (P = 0·03–0·007), especially the O‐sensitive, F‐insensitive efflux was increased (+ 225%, P = 0·01–0·006). Fractional F‐sensitive transport was normal in cirrhosis. RBC sodium influx was largely normal in cirrhosis. In conclusion, RBC sodium content is reduced in patients with cirrhosis with a direct relation to serum sodium. Increased RBC sodium efflux is especially related to ouabain‐sensitive, furosemide‐insensitive transport and thus most likely due to upregulated activity of the sodium–potassium pump. The study gives no evidence to an altered intracellular/extracellular sodium ratio or to a reduced fractional furosemide‐sensitive sodium transport in cirrhosis.
The effects of exercise training under mild hypoxic conditions on body composition and circulating adiponectin in postmenopausal women
Authors: Nishiwaki Masato , Kawakami Ryoko , Saito Kazuto , Tamaki Hiroyuki , Ogita Futoshi 
Published: May 2015

SummaryPurposeThis study aimed to examine the effects of exercise training under mild hypoxic conditions on body composition and circulating adiponectin levels in postmenopausal women.MethodsFourteen postmenopausal women (56 ± 1 years) were assigned to a normoxic (N group) or hypoxic (H group) exercise group. Aquatic exercise training was performed at an intensity of 50% peak oxygen uptake level for 30 min per training session, 4 days per week, for 8 weeks. The H group performed the exercise under hypobaric hypoxic conditions, which corresponds to 2000 m above sea level, and each participant was exposed to these conditions for 2 h per session.ResultsAfter the training, no significant changes were observed in any of the measured values for the N group. Conversely, body mass (57·3 ± 2·5 to 54·5 ± 2·3 kg), body mass index (24·6 ± 0·8 to 23·4 ± 0·7 kg m−2), body fat (30·7 ± 1·9 to 28·1 ± 1·6%) and preperitoneal fat thickness as an index of visceral fat accumulation (10·3 ± 1·7 to 6·4 ± 1·0 mm) significantly reduced only in the H group. Circulating adiponectin levels significantly increased (9·5 ± 1·8 to 11·4 ± 2·0 μg ml−1), and the changes in adiponectin were significantly correlated with those in body mass (r = −0·81) and body mass index (r = −0·85).ConclusionsThese results suggest that exercise training under mild hypoxic conditions could more effectively reduce body fat and increase adiponectin levels in postmenopausal women in a shorter period, than exercise training in normoxia.
Q‐switched Nd:YAG laser treatment for labial lentigines associated with Peutz‐Jeghers syndrome
Authors: Ge Yiping , Jia Gaorong , Lin Tong 
Published: May 2015

SummaryBackground and objectiveLabial lentigines associated with Peutz‐Jeghers syndrome are cosmetically disfiguring and distressful. Although multiple treatment modalities including Q‐switched ruby laser and Q‐switched alexandrite laser have been proposed, experience with Q‐switched Nd:YAG laser has been lacking. This study aimed to retrospectively evaluate the efficacy and safety of Q‐switched Nd:YAG laser (532 nm) for labial lentigines in Peutz‐Jeghers syndrome.Patients and methodsDemographic and clinical data of 11 patients diagnosed with Peutz‐Jeghers syndrome were analyzed. A quartile grading system was used. All patients were treated with a Q‐switched Nd:YAG laser system with the following parameters: wavelength 532 nm; spot size 3 mm; pulse duration 5–20 ns; fluence 1.8–2.2 J/cm2.ResultsAfter two to six (mean 3.6) treatment sessions, an average grade of 3.73 was achieved. Eight patients (72.7 %) showed an excellent response with more than 75 % lesion clearance. Three patients (27.3 %) showed a good response. Repeated treatments led to improved clearance of labial lentigines. Age, gender, and Fitzpatrick skin type were not statistically associated with efficacy grades after the first treatment session. Neither recurrence in treated areas nor significant complications were observed.ConclusionsQ‐switched Nd:YAG laser provides an effective and safe treatment option for labial lentigines associated with Peutz‐Jeghers syndrome.
Pharmakokinetische Besonderheiten von therapeutischen Antikörpern
Authors: Wohlrab Johannes 
Published: May 2015

ZusammenfassungTherapeutische Antikörper unterliegen wegen ihres hohen Molekulargewichtes und ihrer extremen Hydrophilie im Vergleich zu konventionellen Arzneimittel anderen Vorgängen der Absorption, Verteilung und Elimination. Zudem ist ihr pharmakokinetisches Profil interindividuell deutlich variabler. Nach subkutaner Applikation werden die Antikörper durch das Lymphgefäßsystem aufgenommen und stark verzögert systemisch bioverfügbar. Die physikochemischen Eigenschaften der Moleküle behindern zudem deren Verteilung vom Blut ins Gewebe. Die Elimination erfolgt durch Proteolyse in verschiedenen Organen (Haut, Muskel, Leber), aber vor allem im retikuloendothelialen System. Bedeutsam ist zudem die Zielantigen‐vermittelte Elimination, insbesondere bei zellgebundenen Zielantigenen sowie ein durch die Bindung an den neonatalen Fc‐Rezeptor vermittelten Recyclingprozess, der einen Schutz vor lysosomaler Zersetzung bietet. In Abhängigkeit von der Immunogenität des therapeutischen Antikörpers sowie der individuellen Immunantwort des Patienten kann es zur Bildung neutralisierender Antikörper kommen. Zur Optimierung der pharmakokinetischen Rahmenbedingungen kann der Therapeut zum einen eine Koapplikation mit z. B. Methotrexat erwägen, zum anderen Risikofaktoren zum Verlust der immunologischen Toleranz wie Bedarfstherapie bzw. elektive Wechsel des therapeutischen Antikörpers vermeiden.
Standard dose and prolonged administration of azacitidine are associated with improved efficacy in a real‐world group of patients with myelodysplastic syndrome or low blast count acute myeloid leukemia
Authors: Voso Maria Teresa , Niscola Pasquale , Piciocchi Alfonso , Fianchi Luana , Maurillo Luca , Musto Pellegrino , Pagano Livio , Mansueto Giovanna , Criscuolo Marianna , Aloe‐Spiriti Maria Antonietta , Buccisano Francesco , Venditti Adriano , Tendas Andrea , Piccioni Anna Lina , Zini Gina , Latagliata Roberto , Filardi Nunzio , Fragasso Alberto , Fenu Susanna , Breccia Massimo ,   GROM (Gruppo Romano e Laziale MDS) and Basilicata MDS Registry
Published: May 2015

AbstractObjectiveAzacitidine is the standard of care for higher‐risk myelodysplastic syndromes (MDS). We evaluated factors affecting the outcome of azacitidine treatment in 196 ‘real‐world’ patients, retrospectively collected by two Italian cooperative groups.MethodsThe study included 184 MDS and 12 low blast count acute myeloid leukemia (AML). Azacitidine was administered at the standard dose of 75 mg/m2/d for 7 d (SD) in 163 patients and 100 mg/d for 5–7 d in 33 patients.ResultsAfter a median of 4.5 azacitidine cycles (range 7–15 cycles), 182 patients were evaluable for response. Nineteen percent achieved complete remission (CR), 17% partial remission (PR), and 21% hematological improvement (HI). The disease was stable or progressive in 29% and 14% of patients, respectively. The probability of response was significantly higher in patients who received the 75 mg/m2/7 d compared with 100 mg through 5–7 d dose (CR/PR/HI: 63 vs. 29%, P = 0.0005). Median overall survival was 17.1 months. Low MDS‐CI and achievement of CR/PR/HI were significant predictors of survival in the multivariable analysis.ConclusionsOur data show that maximal azacitidine efficacy is associated with the standard dose and with prolonged treatment, beyond 4–6 cycles, with the goal of also improving the ‘quality’ of response. Lower MDS‐CI and IPSS‐R scores, hematologic response and disease stability, are associated with longer survival. The risk of febrile events is highest during the first treatment cycles and is associated with active disease.
Inter‐rater reliability of the Hayes Ability Screening Index in a sample of Australian prisoners
Authors: Young J. T. , van Dooren K. , Lennox N. G. , Butler T. G. , Kinner S. A. 
Published: May 2015

AbstractBackgroundReliable ascertainment of intellectual disability (ID) is important to identify those with special needs, in order for those needs to be met in the criminal justice system. Although the Hayes Ability Screening Index (HASI) is valid and widely used for the identification of possible ID, the risk of inter‐rater bias between researchers when scoring the HASI has not yet been established. The current paper estimates the inter‐rater reliability of the HASI in a sample of Indigenous and non‐Indigenous prisoners in Western Australia.MethodsWe estimated intra‐class correlation coefficients (ICC) for the consistency of agreement among three blinded raters using a two‐way random‐effects model assessing the inter‐rater agreement of the HASI. Kappa was also estimated for the dichotomous HASI screening threshold outcome between the raters.ResultsThe HASI exhibited very good within‐subject consistency of agreement for Section B (ICC = 0.95; 95%CI:0.94–0.96), Section C (ICC = 0.97; 95%CI: 0.96–0.98) and Section D (ICC = 0.90; 95%CI: 0.87–0.92) subscales and for the total scaled score (ICC = 0.97; 95%CI: 0.96–0.98). The inter‐rater reliability of the dichotomous adult ID screening threshold (<85) was also very good (Kappa = 0.95).ConclusionsThe current study provides new evidence that the HASI has a low risk of bias from between‐rater scoring and can be reliably scored by both non‐clinicians and clinicians with little training, when administered in prison settings. Pre‐scoring training should focus on the more subjective ‘clock‐drawing’ section, in order to maximise inter‐rater reliability.
Enabling the detection of UV signal in multimodal nonlinear microscopy with catalogue lens components
Authors: VOGEL MARTIN , WINGERT AXEL , FINK RAINER H.A. , HAGL CHRISTIAN , GANIKHANOV FERUZ , PFEFFER CHRISTIAN P. 
Published: May 2015

SummaryUsing an optical system made from fused silica catalogue optical components, third‐order nonlinear microscopy has been enabled on conventional Ti:sapphire laser‐based multiphoton microscopy setups. The optical system is designed using two lens groups with straightforward adaptation to other microscope stands when one of the lens groups is exchanged. Within the theoretical design, the optical system collects and transmits light with wavelengths between the near ultraviolet and the near infrared from an object field of at least 1 mm in diameter within a resulting numerical aperture of up to 0.56. The numerical aperture can be controlled with a variable aperture stop between the two lens groups of the condenser. We demonstrate this new detection capability in third harmonic generation imaging experiments at the harmonic wavelength of ∼300 nm and in multimodal nonlinear optical imaging experiments using third‐order sum frequency generation and coherent anti‐Stokes Raman scattering microscopy so that the wavelengths of the detected signals range from ∼300 nm to ∼660 nm.
New insight into the anatomy of the hyolingual apparatus of Alligator mississippiensis and implications for reconstructing feeding in extinct archosaurs
Authors: Li Zhiheng , Clarke Julia A. 
Published: May 2015

AbstractAnatomical studies of the cranium of crocodilians motivated by an interest in its function in feeding largely focused on bite force, the jaw apparatus and associated muscles innervated by the trigeminal nerve. However, the ossified and cartilaginous elements of the hyoid and the associated hyolingual muscles, innervated by the facial, hypoglossal and glossopharyngeal nerves, received much less attention. Crocodilians are known to retain what are ancestrally the ‘Rhythmic Hyobranchial Behaviors’ such as buccal oscillation, but show diminished freedom and movement for the hyobranchial apparatus and the tongue in food transport and manipulation. Feeding among crocodilians, generally on larger prey items than other reptilian outgroups, involves passive transport of the food within the mouth. The tongue in extant crocodilians is firmly attached to the buccal floor and shows little movement during feeding. Here, we present a detailed anatomical description of the myology of the hyolingual apparatus of Alligator mississippiensis, utilizing contrast‐enhanced micro‐computed tomography and dissection. We construct the first three‐dimensional (3D) description of hyolingual myology in Alligator mississippiensis and discuss the detailed implications of these data for our understanding of hyolingual muscle homology across Reptilia. These anatomical data and an evaluation of the fossil record of hyoid structures also shed light on the evolution of feeding in Reptilia. Simplification of the hyoid occurs early in the evolution of archosaurs. A hyoid with only one pair of ceratobranchials and a weakly ossified or cartilaginous midline basihyal is ancestral to Archosauriformes. The comparison with non‐archosaurian reptilian outgroup demonstrates that loss of the second set of ceratobranchials as well as reduced ossification in basihyal occurred prior to the origin of crown‐clade archosaurs, crocodilians and birds. Early modification in feeding ecology appears to characterize the early evolution of the clade. Hyoid simplification has been linked to ingestion of large prey items, and this shift in hyoid‐related feeding ecology may occur in early archosauriform evolution. A second transformation in hyoid morphology occurs within the crocodilian stem lineage after the split from birds. In Crocodyliformes, deflections in the ceratobrachials become more pronounced. The morphology of the hyoid in Archosauriformes indicates that aspects of the hyolingual apparatus in extant crocodilians are derived, including a strong deflection near the midpoint of the ceratobranchials, and their condition should not be treated as ancestral for Archosauria.
Evaluation of an in‐house real‐time polymerase chain reaction method to identify group B streptococcus colonization in pregnancy
Authors: Yeung Sik‐Wing , Cheung Pik‐Tsz , Chau Sze‐Lok , Ip Margaret , Lao Terence Tzu‐Hsi , Leung Tak‐Yeung , Tam Wing‐Hung 
Published: May 2015

AbstractAimThe aim of this study was to evaluate the performance of in‐house real‐time polymerase chain reaction (qPCR) in detecting group B streptococcus (GBS) colonization compared with the standard culture method in a cohort of pregnant women.Material and MethodsA total of 134 rectovaginal swabs were collected from 125 pregnant women, of whom 108 were known carriers or presented with preterm prelabor rupture of membranes. The swabs were placed in Standard Methods Broth (Todd‐Hewitt broth supplemented with 6μg/mL gentamicin and 15μg/mL nalidixic acid) for culture identification of GBS. An in‐house qPCR was also performed from the broth and after overnight incubation of the broth.ResultsThe detection rate of GBS in this cohort was 30.6% and 50.7% using standard culture method and qPCR, respectively. GBS‐specific qPCR assay gave sensitivities of 97.6% and 100%, specificities of 73.1% and 71.0%, and negative predictive values of 98.6% and 100% from direct specimen and from broth after overnight incubation, respectively.ConclusionsThe in‐house qPCR test has high sensitivity in detecting GBS colonization. The high negative predictive value helps to avoid unnecessary use of antibiotics in uncolonized women.