bluuebunny/crossref_metadata_2025_split huggingface dataset:
Clinical outcomes in infants with cystic fibrosis transmembrane conductance regulator (CFTR) related metabolic syndrome
Authors: Ren Clement L. , Desai Harsh , Platt Mary , Dixon Marissa 
Published: April 2011

AbstractAn unavoidable outcome of cystic fibrosis newborn screening (CF NBS) programs is the detection of infants with an indeterminate diagnosis. The United States CF Foundation recently proposed the term cystic fibrosis transmembrane conductance regulator related metabolic syndrome (CRMS) to describe infants with elevated immunoreactive trypsinogen (IRT) on NBS who do not meet diagnostic criteria for CF. The objective of this study was to describe the clinical outcomes of infants with CRMS identified through an IRT/DNA algorithm. We reviewed the records of all infants with CRMS diagnosed at our CF Center from 2002 to 2010. We identified 12 infants, and compared them to 27 infants diagnosed with CF by NBS. Compared to CF patients, CRMS patients were more likely to be pancreatic sufficient as assessed by fecal elastase measurement (100% vs. 8%, P < 0.01). Their weight for age percentile was normal from birth. A positive oropharyngeal (OP) culture for Pseudomonas aeruginosa (Pa) was found in 25% of CRMS patients. One patient with the F508del/R117H/7T genotype was reassigned the diagnosis of CF after he had a positive OP culture for Pa, and his follow up sweat Cl at 1 year of life was 73 mmol/L. CF patients were more likely to receive oral antibiotics and be hospitalized for pulmonary symptoms. Our results indicate that CRMS patients can develop signs of CF disease, but have a milder clinical course than CF infants. Close initial monitoring of these patients is warranted. Pediatr. Pulmonol. 2011; 46:1079–1084. © 2011 Wiley Periodicals, Inc.
Visual servoing for a US‐guided therapeutic HIFU system by coagulated lesion tracking: a phantom study
Authors: Seo Joonho , Koizumi Norihiro , Funamoto Takakazu , Sugita Naohiko , Yoshinaka Kiyoshi , Nomiya Akira , Homma Yukio , Matsumoto Yoichiro , Mitsuishi Mamoru 
Published: April 2011

AbstractBackgroundApplying ultrasound (US)‐guided high‐intensity focused ultrasound (HIFU) therapy for kidney tumours is currently very difficult, due to the unclearly observed tumour area and renal motion induced by human respiration. In this research, we propose new methods by which to track the indistinct tumour area and to compensate the respiratory tumour motion for US‐guided HIFU treatment.MethodsFor tracking indistinct tumour areas, we detect the US speckle change created by HIFU irradiation. In other words, HIFU thermal ablation can coagulate tissue in the tumour area and an intraoperatively created coagulated lesion (CL) is used as a spatial landmark for US visual tracking. Specifically, the condensation algorithm was applied to robust and real‐time CL speckle pattern tracking in the sequence of US images. Moreover, biplanar US imaging was used to locate the three‐dimensional position of the CL, and a three‐actuator system drives the end‐effector to compensate for the motion. Finally, we tested the proposed method by using a newly devised phantom model that enables both visual tracking and a thermal response by HIFU irradiation.ResultsIn the experiment, after generation of the CL in the phantom kidney, the end‐effector successfully synchronized with the phantom motion, which was modelled by the captured motion data for the human kidney. The accuracy of the motion compensation was evaluated by the error between the end‐effector and the respiratory motion, the RMS error of which was approximately 2 mm.ConclusionThis research shows that a HIFU‐induced CL provides a very good landmark for target motion tracking. By using the CL tracking method, target motion compensation can be realized in the US‐guided robotic HIFU system. Copyright © 2011 John Wiley & Sons, Ltd.
Characterization of in vivo pharmacological properties and sensitivity to endogenous serotonin of [11C] P943: A positron emission tomography study in Papio anubis
Authors: Ridler Khanum , Plisson Christophe , Rabiner Eugenii A. , Gunn Roger N. , Easwaramoorthy Balu , Abi‐Dargham Anissa , Laruelle Marc , Slifstein Mark 
Published: April 2011

Abstract[11C] P943 is a recently developed PET radiotracer for serotonin 5‐HT1B receptors. We characterized a number of its in vivo pharmacokinetic properties, including the evaluation of its two stereo‐isomers, saturability of specific binding, selectivity for 5‐HT1B and 5‐HT1D receptors, and vulnerability to pharmacologically induced increases in endogenous 5‐HT levels. Six isoflurane‐anesthetized baboons were scanned with [11C] P943 at baseline, and following various pharmacological manipulations. The interventions included the administration of pharmacological doses of P943, SB‐616234‐S (a 5‐HT1B selective antagonist), SB‐714786 (a 5‐HT1D selective antagonist), as well as the administration of 5‐HT releasing agents (fenfluramine, amphetamine) and 5‐HT reuptake inhibitor (citalopram). [11C] P943 was observed to bind saturably and specifically to 5‐HT1B receptors and to be sensitive to all three challenges known to alter 5‐HT levels in the proximity of receptors. [11C] P943 shows promise as a tracer to image serotonin function in healthy subjects as well as subjects with psychiatric or neurologic conditions. Synapse, 2011. © 2011 Wiley‐Liss, Inc.
Minimally Invasive Technique for Release of Dupuytren's Contracture: Segmental Fasciectomy through Multiple Transverse Incisions
Authors: Shin Eon Kyu , Jones Neil Ford 
Published: April 2011

Background A multitude of operative approaches have been described for treatment of Dupuytren's contracture. A less-invasive technique of segmental fasciectomies performed through multiple small transverse incisions is presented. Methods Seventy-three digits in 37 patients were treated with segmental fasciectomies. The results of 34 digits in 14 patients are described with subsequent follow-up longer than 2 years. Results Metacarpophalangeal joint extension improved from a mean of 32.5° to 2.2°, while proximal interphalangeal joint extension improved from 22.9° to 4.1°. Patients subjectively rated their surgical outcomes as excellent or good in 91.2% of cases. No recurrence of the disease was noted, though extension of the disease to adjacent digits was observed in three patients. Conclusions Though this approach is technically demanding and requires the help of a skilled assistant, this preliminary study supports our contention that this less-extensive procedure allows excellent correction of contractures; results in mild postoperative pain; and permits a rapid return of finger flexion with satisfactory long-term results so far at 2-years follow-up.
Regulatory Hotspots Are Associated with Plant Gene Expression under Varying Soil Phosphorus Supply in Brassica rapa
Authors: Hammond John P. , Mayes Sean , Bowen Helen C. , Graham Neil S. , Hayden Rory M. , Love Christopher G. , Spracklen William P. , Wang Jun , Welham Sue J. , White Philip J. , King Graham J. , Broadley Martin R. 
Published: April 2011

Abstract
Gene expression is a quantitative trait that can be mapped genetically in structured populations to identify expression quantitative trait loci (eQTL). Genes and regulatory networks underlying complex traits can subsequently be inferred. Using a recently released genome sequence, we have defined cis- and trans-eQTL and their environmental response to low phosphorus (P) availability within a complex plant genome and found hotspots of trans-eQTL within the genome. Interval mapping, using P supply as a covariate, revealed 18,876 eQTL. trans-eQTL hotspots occurred on chromosomes A06 and A01 within Brassica rapa; these were enriched with P metabolism-related Gene Ontology terms (A06) as well as chloroplast- and photosynthesis-related terms (A01). We have also attributed heritability components to measures of gene expression across environments, allowing the identification of novel gene expression markers and gene expression changes associated with low P availability. Informative gene expression markers were used to map eQTL and P use efficiency-related QTL. Genes responsive to P supply had large environmental and heritable variance components. Regulatory loci and genes associated with P use efficiency identified through eQTL analysis are potential targets for further characterization and may have potential for crop improvement.
MLN4924 Is an Efficient Inhibitor of NEDD8 Conjugation in Plants
Authors: Hakenjos Jana Pia , Richter René , Dohmann Esther Mirjam Natascha , Katsiarimpa Anthi , Isono Erika , Schwechheimer Claus 
Published: April 2011

Abstract
The conjugation of the ubiquitin-like modifier NEURAL PRECURSOR CELL-EXPRESSED DEVELOPMENTALLY DOWN-REGULATED PROTEIN8/RELATED TO UBIQUITIN1 (NEDD8/RUB1; neddylation) is best known as an important posttranslational modification of the cullin subunits of cullin-RING-type E3 ubiquitin ligases (CRLs). MLN4924 has recently been described as an inhibitor of NEDD8-ACTIVATING ENZYME1 (NAE1) in human. Here, we show that MLN4924 is also an effective and specific inhibitor of NAE1 enzymes from Arabidopsis (Arabidopsis thaliana) and other plant species. We found that MLN4924-treated wild-type seedlings have phenotypes that are highly similar to phenotypes of mutants with a partial defect in neddylation and that such neddylation-defective mutants are hypersensitive to MLN4924 treatment. We further found that MLN4924 efficiently blocks the neddylation of cullins in Arabidopsis and that MLN4924 thereby interferes with the degradation of CRL substrates and their downstream responses. MLN4924 treatments also induce characteristic phenotypes in tomato (Solanum lycopersicum), Cardamine hirsuta, and Brachypodium distachyon. Interestingly, MLN4924 also blocks the neddylation of a number of other NEDD8-modified proteins. In summary, we show that MLN4924 is a versatile and specific neddylation inhibitor that will be a useful tool to examine the role of NEDD8- and CRL-dependent processes in a wide range of plant species.
Identification of quantitative trait loci affecting resistance to gastrointestinal parasites in a double backcross population of Red Maasai and Dorper sheep
Authors: Silva M. V. B. , Sonstegard T. S. , Hanotte O. , Mugambi J. M. , Garcia J. F. , Nagda S. , Gibson J. P. , Iraqi F. A. , McClintock A. E. , Kemp S. J. , Boettcher P. J. , Malek M. , Van Tassell C. P. , Baker R. L. 
Published: April 2011

SummaryA genome‐wide scan for quantitative trait loci (QTL) affecting gastrointestinal nematode resistance in sheep was completed using a double backcross population derived from Red Maasai and Dorper ewes bred to F1 rams. This design provided an opportunity to map potentially unique genetic variation associated with a parasite‐tolerant breed like Red Maasai, a breed developed to survive East African grazing conditions. Parasite indicator phenotypes (blood packed cell volume – PCV and faecal egg count – FEC) were collected on a weekly basis from 1064 lambs during a single 3‐month post‐weaning grazing challenge on infected pastures. The averages of last measurements for FEC (AVFEC) and PCV (AVPCV), along with decline in PCV from challenge start to end (PCVD), were used to select lambs (N = 371) for genotyping that represented the tails (10% threshold) of the phenotypic distributions. Marker genotypes for 172 microsatellite loci covering 25 of 26 autosomes (1560.7 cm) were scored and corrected by Genoprob prior to qxpak analysis that included Box–Cox transformed AVFEC and arcsine transformed PCV statistics. Significant QTL for AVFEC and AVPCV were detected on four chromosomes, and this included a novel AVFEC QTL on chromosome 6 that would have remained undetected without Box–Cox transformation methods. The most significant P‐values for AVFEC, AVPCV and PCVD overlapped the same marker interval on chromosome 22, suggesting the potential for a single causative mutation, which remains unknown. In all cases, the favourable QTL allele was always contributed from Red Maasai, providing support for the idea that future marker‐assisted selection for genetic improvement of production in East Africa will rely on markers in linkage disequilibrium with these QTL.
Quality of end‐of‐life care for non‐cancer patients in a non‐acute hospital
Authors: Woo Jean , Lo Raymond , Cheng Joanna OY , Wong Florens , Mak Benise 
Published: April 2011

Aims and objectives.  Few surveys have been carried out documenting the quality of life for non‐cancer patients in general district hospitals reaching the final trajectory towards death. We carried out a survey of 80 patients facing the final stages of their chronic illness as well as their carers and hospital staff.Background.  With increasing life expectancy, a large majority of patients are older, where palliative care principles for patients with cancer are equally applicable. Few surveys have been carried out documenting the quality of life for non‐cancer patients in general district hospitals reaching the final trajectory towards death in terms of patients’ and carers’ perspective, compared with the more extensive literature for patients with cancer.Design.  Survey.Methods.  Assessment tools include symptom check list, geriatric depression scale, Chinese Death Anxiety Inventory and the McGill Quality of Life Questionnaire for patients; SF‐12 and the Chinese cost of care index for informal carers; and the Chinese Maslach Bumout and Death Anxiety Inventories for hospital staff.Results.  Lower‐limb weakness (92·5%), fatigue (86·2%), oedema (85%), dysphagia (58·2%) and pain (48·8%) were the most common symptoms in this group of patients. The mean Chinese Caregiver Stress Index score was 45·93 (SD 6·45) (maximum score = 80). For staff, the mean SF‐12 physical component score was lower than the Hong Kong population average.Conclusion.  The findings suggest that there is room for improvement in the quality of end‐of‐life care.Relevance to clinical practice.  Patients in the final stages of many chronic illnesses have high prevalence of symptoms comparable to those of patients with cancer. Raising awareness and improving training for all health care professionals, formulating guidelines and care pathways and incorporating quality of care as key performance indicators are measures to improve the quality of end‐of‐life care.
Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early‐onset Parkinson disease
Authors: Kim S Y , Seong M W , Jeon B S , Kim S Y , Ko H S , Kim J Y , Park S S 
Published: April 2011

Kim SY, Seong MW, Jeon BS, Kim SY, Ko HS, Kim JY, Park SS. Phase analysis identifies compound heterozygous deletions of the PARK2 gene in patients with early‐onset Parkinson disease.Exon rearrangements and point mutations are common in PARK2, the most important causative gene of autosomal recessive early‐onset Parkinson disease (EOPD). However, gene dosage analysis alone cannot conclusively determine the phase of exon rearrangements and the incidence of molecularly confirmed parkin‐type EOPD may be underestimated. To fully characterize the mutation spectrum, we performed sequencing and gene dosage analyses of SNCA, PARK2, PINK1, and PARK7 in 114 unrelated EOPD patients with onset age ≤40 years. Mutational phase of exon rearrangements was determined by reverse‐transcriptase PCR (RT‐PCR) and sequence analysis using a patient's own RNA. Fourteen different PARK2 mutations (3 point mutations plus 11 exon rearrangements) were identified in 18 patients, comprising 1 homozygote (0.9%), 13 compound heterozygotes (11.4%), 3 single heterozygotes (2.6%), and 1 with unknown phase (0.9%). By phase determination, more than 80% (5 of 6) of patients with apparently contiguous multi‐exon deletions and 30% (5 of 18) of all PARK2 mutation carriers were additionally diagnosed as compound heterozygotes, respectively. This study shows that compound heterozygous mutations constituted a significant portion of patients with apparently contiguous multi‐exon deletions. Phase determination is a prerequisite to molecular diagnosis for autosomal recessive EOPD, especially in subjects with PARK2 exon rearrangements.
Xenotransplantation: from the lab to the clinic
Authors: Schuurman Henk‐Jan 
Published: April 2011

Schuurman H‐J. Xenotransplantation: from the lab to the clinic. Clin Transplant 2011: 25: E415–E421. © 2011 John Wiley & Sons A/S.Abstract:  This manuscript presents a summary of the Symposium “Xenotransplantation, from the Lab to the Clinic,” held at the XXIII International Congress of The Transplantation Society, August 2010. This Symposium was timely in view of recent developments in translational research in the field, and the initiation of clinical trials after a thorough review by regulatory authorities and scientific experts. Three experts presented an update on the status of preclinical research with the perspective of moving forward to clinical trials; first data from clinical trials using encapsulated porcine islet cells; and the regulatory aspects for clinical application of a xenotransplantation product.
Prevalence of post‐traumatic stress disorder among children and adolescents who survive road traffic crashes: A systematic review of the international literature
Authors: Mehta Suneela , Ameratunga Shanthi N 
Published: April 2011

AbstractWhile road traffic crashes are known to have a significant impact in terms of deaths and hospitalisations, quantifying the burden of psychological sequelae is more challenging. This systematic review critically evaluates published studies designed to estimate the prevalence of post‐traumatic stress disorder among children and adolescents who have survived a road crash. Most studies have focused on injured school‐aged children and adolescents, and estimate the occurrence of this condition to be between 12% and 46% in the first 4 months following crash involvement and between 13% and 25% 4–12 months following the crash. The relatively high prevalence of post‐traumatic stress disorder following one of the commonest causes of injury underscores the need for greater vigilance and active management to mitigate the adverse consequences on the health and development of young crash survivors. The findings also emphasise the important role that child health professionals must play in promoting strategies that prevent road traffic crashes.
WEST MEETS EAST: PRELIMINARY RESULTS OF NARROW BAND IMAGING WITH OPTICAL MAGNIFICATION IN THE DIAGNOSIS OF COLORECTAL LESIONS: A MULTICENTER AUSTRALIAN STUDY USING THE MODIFIED SANO'S CLASSIFICATION
Authors: SINGH RAJVINDER , NORDEEN NAZREE , CHEN YI MEI SWEE LIN , KAFFES ARTHUR , TAM WILLIAM , SAITO YUTAKA 
Published: April 2011

Introduction:  Narrow band imaging with optical magnification (NBI‐Z) enables mucosal morphology to be assessed in real time by using light with narrowed band width and magnification of up to 115×.Methods:  Colorectal lesions detected were assessed with NBI‐Z. Histology was predicted using the modified Sano's classification based on capillary network patterns (cn); type I: absent cn (hyperplastic polyp), type II: cn present, surrounding mucosal glands (adenoma), type IIIa: high density cn with tortuosity and lack of uniformity (intramucosal cancer) and type IIIb: nearly avascular cn (invasive cancer). Each lesion was also graded with a confidence level (low/high). High‐definition videos (mean 28.2 s; range 12–55) of each lesion assessed with NBI‐Z were then taken. This was followed by polypectomy, endoscopic or surgical resection. NBI‐Z diagnosis was compared with the final histopathology. To test for interobserver agreement, an endoscopist blinded to the video acquisition process/histology was invited to grade the videos.Results:  A total of 50 lesions (2 assessors: 100 studies), with an average size of 8.4 mm (range 3–30), in 32 patients were assessed. Twenty were hyperplastic, 25 adenomas, 2 intramucosal and 3 invasive cancers of which 19 were located in the right and 31 in the left colon. The overall accuracy of NBI‐Z in predicting histology was 90%, which increased to 95% (88/93) when lesions were predicted with high confidence. The sensitivity (Sn), specificity (Sp), positive (PPV) and negative predictive values (NPV) in differentiating neoplastic from non‐neoplastic lesions with high confidence were 98%, 89%, 93% and 97%, respectively, while the Sn, Sp, PPV and NPV in predicting endoscopic resectability (type II, IIIa vs type I, IIIb) was 100%, 90%, 93% and 100%, respectively. The interobserver agreement between both assessors (κ value) was substantial at 0.89.Conclusions:  Using confidence levels, NBI‐Z permits prediction of colorectal neoplasia with high accuracies and might allow prompt decisions to be made if a lesion should be left in situ, resected and discarded or biopsied. This approach might lead to substantial time and cost savings and could potentially reduce complications associated with polypectomy and endoscopic resections.
THE USEFULNESS OF NBI MAGNIFICATION ON DIAGNOSIS OF SUPERFICIAL ESOPHAGEAL SQUAMOUS CELL CARCINOMA
Authors: KAWAHARA YOSHIRO , UEDO NORIYA , FUJISHIRO MITSUHIRO , GODA KEN‐ICHI , HIRASAWA DAI , LEE JUN HAENG , MIYAHARA RYOJI , MORITA YOSHINORI , SINGH RAJVINDER , TAKEUCHI MANABU , WANG SHUFANG , YAO TAKASHI 
Published: April 2011

Reported herein is the case of a 80‐year‐old man who had small squamous cell carcinoma in the esophagus. The lesion was initially detected as a irregular reddish elevated and flat area depicted by non‐magnified white light endoscopy and observed as a brownish area with the narrow‐band imaging system (NBI).The depth of elevated and depressed area in the lesion was predicted to be LSM to MM due to Inoue's classification of morphologic change of intrapapillary capillary loop (IPCL) under magnified NBI observation. The depth of another flat area was not able to predicted by Inoue's classification, and we used Arima's classification. We predicted the depth of invasion to be MM to SM1.by this classification. Endoscopic submucosal dissection (ESD) was carried out for the lesion. As a result, the endoscopic diagnosis completely accorded with pathological diagnosis. We could diagnose correctly by adding Arima's classification to Inoue's classification.
A global census of nitrogenase diversity
Authors: Gaby John Christian , Buckley Daniel H. 
Published: April 2011

SummaryThe global diversity of nitrogen‐fixing microorganisms was assessed through construction and analysis of an aligned database of 16 989 nifH sequences. We conclude that the diversity of diazotrophs is still poorly described and that many organisms remain to be discovered. Our analyses indicate that diversity is not distributed evenly across phylogenetic groups or across environments and that some of the most diverse assemblages and environments remain the most poorly characterized. The majority of OTUs were rare, falling in the long tail of the frequency distribution. The most dominant OTUs fell into either the Cyanobacteria or the α, β, and γ Proteobacteria, and five of these dominant OTUs do not have any representatives cultivated in isolation. Soils contained the greatest diversity of nifH sequences of all of the environments surveyed. Cluster III, which is dominated by nifH sequences from obligate anaerobes, was found to contain the greatest diversity of all nifH lineages and is also the group for which diversity is the least sampled. Our findings provide context for ongoing efforts to explore diazotroph diversity, indicating specific groups and environments that remain poorly characterized.