bluuebunny/crossref_metadata_2025_split huggingface dataset:
Level of genetic differentiation affects relative performances of expressed sequence tag and genomic SSRs
Authors: Khimoun Aurélie , Ollivier Anthony , Faivre Bruno , Garnier Stéphane 
Published: December 2016

AbstractMicrosatellites, also called simple sequence repeats (SSRs), are markers of choice to estimate relevant parameters for conservation genetics, such as migration rates, effective population size and kinship. Cross‐amplification of SSRs is the simplest way to obtain sets of markers, and highly conserved SSRs have recently been developed from expressed sequence tags (EST) to improve SSR cross‐species utility. As EST‐SSRs are located in coding regions, the higher stability of their flanking regions reduces the frequency of null alleles and improves cross‐species amplification. However, EST‐SSRs have generally less allelic variability than genomic SSRs, potentially leading to differences in estimates of population genetic parameters such as genetic differentiation. To assess the potential of EST‐SSRs in studies of within‐species genetic diversity, we compared the relative performance of EST‐ and genomic SSRs following a multispecies approach on passerine birds. We tested whether patterns and levels of genetic diversity within and between populations assessed from EST‐ and from genomic SSRs are congruent, and we investigated how the relative efficiency of EST‐ and genomic SSRs is influenced by levels of differentiation. EST‐ and genomic SSRs ensured comparable inferences of population genetic structure in cases of strong genetic differentiation, and genomic SSRs performed slightly better than EST‐SSRs when differentiation is moderate. However and interestingly, EST‐SSRs had a higher power to detect weak genetic structure compared to genomic SSRs. Our study attests that EST‐SSRs may be valuable molecular markers for conservation genetic studies in taxa such as birds, where the development of genomic SSRs is impeded by their low frequency.
Molecular sexing applicable in 4000 species of lizards and snakes? From dream to real possibility
Authors: Rovatsos Michail , Kratochvíl Lukáš 
Published: December 2016

Summary

While the stability of sex chromosomes is widely accepted in viviparous mammals and birds, ectothermic vertebrates are still largely viewed as having frequent turnovers in sex‐determining systems. Frequent changes in sex‐determining systems in ectotherms could be problematic for field ecological studies as well as for breeding programs, as molecular sexing across a phylogenetically widespread spectrum of ectothermic vertebrates would not be possible. However, we recently documented that sex‐determining systems in three important reptile lineages (caenophidian snakes, iguanas and lacertid lizards) are in fact highly conserved.

We applied a new molecular procedure to identify sex within each of these three lineages (encompassing altogether around 4000 species, i.e. nearly 50% of the recent species of reptiles). This technique uses quantitative PCR (qPCR) to compare copy numbers of genes specific for their respective Z (in caenophidian snakes and lacertids) and X (in iguanas) chromosomes between male and female genomes. The DNA samples required can be collected relatively non‐invasively. Unlike molecular sexing based on repetitive elements, this technique can be easily applied to previously unstudied species of these lineages, as the number of copies of protein‐coding genes linked to the differentiated sex chromosomes is evolutionarily highly conserved in each.

We suggest that qPCR‐based molecular sexing using the comparison of gene copy number is a practical choice for non‐model species of caenophidian snakes, iguanas and lacertids. Moreover, it should also soon be available for other reptile lineages with differentiated sex chromosomes.
Studying the Safety and Performance of Rapid Sequence Intubation: Data Collection Method Matters
Authors: Rinderknecht Andrea S. , Dyas Jenna R. , Kerrey Benjamin T. , Geis Gary L. , Ho Mona H. , Mittiga Matthew R. 
Published: December 2016

AbstractObjectiveWe sought to describe and compare chart and video review as data collection sources for the study of emergency department (ED) rapid sequence intubation (RSI).MethodsThis retrospective cohort study compares the availability and content of key RSI outcome and process data from two sources: chart and video data from 12 months of pediatric ED RSI. Key outcomes included adverse effects (oxyhemoglobin desaturation, physiologic changes, inadequate paralysis, vomiting), process components (number of laryngoscopy attempts, end‐tidal CO2 detection), and timing data (duration of preoxygenation and laryngoscopy attempts).ResultsWe reviewed 566 documents from 114 cases with video data. Video review detected higher rates of adverse effects (67%) than did chart review (46%, p < 0.0001), identifying almost twice the rate of desaturation noted in the chart (34% vs. 18%, p = 0.0002). The performance and timing of key RSI processes were significantly more reliably available via video review (timing and duration of preoxygenation, as well as timing, duration, and number of laryngoscopy attempts, all p < 0.05). Video review identified 221 laryngoscopy attempts, whereas chart review only identified 187.ConclusionsWhen compared with video review for retrospective study of RSI in a pediatric ED, chart review significantly underestimated adverse effects, inconsistently contained data on important RSI process elements, rarely provided time data, and often conflicted with observations made on video review. Interpretation of and design of future studies of RSI should take into consideration the quality of the data source.
Point‐of‐care Ultrasound for Nonangulated Distal Forearm Fractures in Children: Test Performance Characteristics and Patient‐centered Outcomes
Authors: Poonai Naveen , Myslik Frank , Joubert Gary , Fan Josiah , Misir Amita , Istasy Victor , Columbus Melanie , Soegtrop Robert , Goldfarb Alex , Thompson Drew , Dubrovsky Alexander Sasha 
Published: December 2016

AbstractObjectivesDistal forearm fractures are the most common fracture type in children. Point‐of‐care‐ultrasound (POCUS) is increasingly being used, and preliminary studies suggest that it offers an accurate approach to diagnosis. However, outcomes such as pain, satisfaction, and procedure duration have not been explored but may be salient to the widespread acceptance of this technology by caregivers and children. Our objectives were to examine the test performance characteristics of POCUS for nonangulated distal forearm injuries in children and compare POCUS to x‐ray with respect to pain, caregiver satisfaction, and procedure duration.MethodsWe conducted a cross‐sectional study involving children aged 4–17 years with a suspected nonangulated distal forearm fracture. Participants underwent both x‐ray and POCUS assessment. The primary outcome was sensitivity between POCUS and x‐ray, the reference standard. Secondary outcomes included self‐reported pain using the Faces Pain Scale–Revised, caregiver satisfaction using a five‐item Likert scale, and procedure duration.ResultsPOCUS was performed in 169 children of whom 76 were diagnosed with a fracture including 61 buckle fractures. Sensitivity of POCUS for distal forearm fractures was 94.7% (95% confidence interval [CI] = 89.7–99.8) and specificity was 93.5% (95% CI = 88.6–98.5). POCUS was associated with a significantly lower median (interquartile range [IQR]) pain score compared to x‐ray: 1 (0–2) versus 2 (1–3), respectively (median difference = 0.5; 95% CI = 0.5–1; p < 0.001) and no significant difference in median (IQR) caregiver satisfaction score: 5 (0) versus 5 (4–5), respectively (median difference = 0, 95% CI = 0, p = 1.0). POCUS was associated with a significantly lower median (IQR) procedure duration versus x‐ray: 1.5 (0.8–2.2) minutes versus 27 (15–58) minutes, respectively (median difference = 34.1, 95% CI = 26.8–41.5, p < 0.001).ConclusionsOur findings suggest that POCUS assessment of distal forearm injuries in children is accurate, timely, and associated with low levels of pain and high caregiver satisfaction.
Risk, Benefit, and Cost Thresholds for Emergency Department Testing: A Cross‐sectional, Scenario‐based Study
Authors: Meka Arjun Prasad , Porath Jonathan Douglas , Iyengar Rahul , Morrow Chelsea , Fagerlin Angela , Meurer William J. 
Published: December 2016

AbstractBackgroundWhile diagnostic testing is common in the emergency department, the value of some testing is questionable. The purpose of this study was to assess how varying levels of benefit, risk, and costs influenced an individual's desire to have diagnostic testing.MethodsA survey through Amazon Mechanical Turk presented hypothetical clinical situations: low‐risk chest pain and minor traumatic brain injury. Each scenario included three given variables (benefit, risk, and cost), that was independently randomly varied over four possible values (0.1, 1, 5, and 10% for benefit and risk and $0, $100, $500, and $1,000 for the individual's personal cost for receiving the test). Benefit was defined as the probability of finding the target disease (traumatic intracranial hemorrhage or acute coronary syndrome).ResultsOne‐thousand unique respondents completed the survey. With an increased benefit from 0.1% to 10%, the percentage of respondents who accepted a diagnostic test went from 28.4% to 53.1%. (odds ratio [OR] = 3.42; 95% confidence interval [CI] = 2.57–4.54). As risk increased from 0.1% to 10%, this number decreased from 52.5% to 28.5%. (OR = 0.33; 95% CI = 0.25–0.44). Increasing cost from $0 to $1,000 had the greatest change of those accepting the test from 61.1% to 21.4%, respectively (OR = 0.15; 95% CI = 0.11–0.2).ConclusionsThe desire for testing was strongly sensitive to the benefits, risks, and costs. Many participants wanted a test when there was no added cost, regardless of benefit or risk levels, but far fewer elected to receive the test as cost increased incrementally. This suggests that out‐of‐pocket costs may deter patients from undergoing diagnostic testing with low potential benefit.
Composition of Unrecorded Distilled Alcohol (bai jiu) Produced in Small Rural Factories in Central China
Authors: Newman Ian , Qian Ling , Tamrakar Niran , Feng Yonghua , Xu Ganrong 
Published: December 2016

BackgroundUnrecorded traditional distilled spirits (bai jiu, 白酒) are made and used throughout rural China for everyday use and special occasions. Nearly every town or village has a distiller to supply the demand. In rural China, distilling bai jiu is legal and regulated lightly or not at all. The World Health Organization estimates that as much as 25% of all alcohol consumed in China is unrecorded alcohol, of which an unknown portion is unrecorded bai jiu. Little is known about the composition of unrecorded Chinese spirits from rural parts of the country. This study focused on white spirits because the high ethanol (EtOH) concentration makes them more likely to contribute to health risks compared to other types of lower alcohol by volume (ABV) Chinese unrecorded alcohol.MethodsResearchers purchased samples of Chinese white spirits from small‐factory distillers in central China. An independent laboratory conducted the analysis. Alcohol strength (ABV) was determined by hydrometer. Gas chromatography was used to determine the concentration of volatile organic compounds: EtOH, methanol, acetaldehyde, ethyl acetate, and higher alcohols. Samples were tested for 3 heavy metals—arsenic, cadmium, and lead. We used the guidelines developed by the Alcohol Measures for Public Health Research Alliance (AMPHORA) of the European Commission to assess risk.ResultsABV ranged from 35.7 to 61.4%, and 58 of the 61 samples exceeded 40% ABV. The concentration of methanol, ethyl acetate, lead, arsenic, and cadmium was below AMPHORA guideline. The sum of higher alcohols exceeded the AMPHORA maximum in just 1 sample. Forty of the 61 samples had acetaldehyde levels beyond the AMPHORA guideline.ConclusionsThe unrecorded Chinese alcohols we analyzed had a high EtOH concentration—a public health concern that is also presented by recorded alcohols. The high percentage of samples (65.5%) that had elevated acetaldehyde suggests the need to investigate the causes for this result and the need for steps to reduce acetaldehyde levels. The cumulative long‐term risks of using high EtOH and high acetaldehyde Chinese spirits are heightened by the percentage of people in China who have a genetic trait for impaired acetaldehyde metabolism.
The effects of tracheal tube cuffs filled with air, saline or alkalinised lidocaine on haemodynamic changes and laryngotracheal morbidity in children: a randomised, controlled trial
Authors: Soares S. M. F. , Arantes V. M. , Módolo M. P. , dos Santos V. J. B. , Vane L. A. , Navarro e Lima L. H. , Braz L. G. , do Nascimento P. , Módolo N. S. P. 
Published: December 2016

SummaryWe studied the effects of tracheal tube cuffs filled with air, saline or alkalinised lidocaine on haemodynamic changes during tracheal extubation and postoperative laryngotracheal morbidity in children. We randomly allocated 164 children aged 3–13 years undergoing general anaesthesia to one of four groups; tracheal tube cuffs filled with air (n = 41); saline (n = 41); alkalinised lidocaine 0.5% (n = 41); or alkalinised lidocaine 1% (n = 41). Intracuff pressure was monitored and maintained below 20 cmH2O. The mean (SD) increases in systolic blood pressure after tracheal extubation compared with before extubation were 10.9 (10.8) mmHg, 7.3 (17.7) mmHg, 4.1 (10.5) mmHg and 1.9 (9.5) mmHg in the air, saline, 0.5% and 1% alkalinised lidocaine groups, respectively (p = 0.021). The mean (SD) increases in diastolic blood pressure after tracheal extubation compared with before extubation were 3.9 (9.7) mmHg, 7.9 (14.6) mmHg, 0.7 (10.4) mmHg and 3.6 (6.9) mmHg in the air, saline, 0.5% and 1% alkalinised lidocaine groups, respectively (p = 0.019). The mean (SD) increases in heart rate after tracheal extubation compared with before extubation were 14.2 (7.6) beats.min−1, 15.5 (13.1) beats.min−1, 5.2 (9.6) beats.min−1 and 4.1 (6.6) beats.min−1 in the air, saline, 0.5% and 1% alkalinised lidocaine groups, respectively (p < 0.001). The incidence of sore throat 8 h after tracheal extubation was 22.0% in the air‐filled group, 9.8% in the saline group, 4.9% in the 0.5% alkalinised lidocaine group and 2.4% in the 1% alkalinised lidocaine group, p = 0.015. We conclude that filling the tracheal tube cuff with alkalinised lidocaine‐filled reduces the haemodynamic response to tracheal extubation and postoperative laryngotracheal morbidity in children.
When alternative female Kangaroo care is provided by other immediate postpartum mothers, it reduces postprocedural pain in preterm babies more than swaddling
Authors: Murmu Jitendranath , Venkatnarayan Kannan , Thapar Rajeev Kumar , Shaw Subhash Chandra , Dalal Shamsher Singh 
Published: December 2016

AbstractAimResearch on alternative female Kangaroo care (KC) has been hampered by high maternal refusal rates. We assessed the efficacy of Kangaroo mother care (KMC), alternative KC provided by other postpartum mothers and swaddling for postprocedural pain relief in preterm babies.MethodsThe study was carried out in a tertiary armed forces hospital, where mothers did not have support from other female relatives and other postpartum mothers agreed to act as alternative female KC providers. We exposed 51 stable preterm neonates, with a gestational age of 30–36 weeks, to KMC, alternative female KC and swaddling for 30 minutes before heel lancing. The outcome measures included the Preterm Infant Pain Profile (PIPP) scores at 30 seconds and the time taken for the heart rate to return to baseline.ResultsThe mean PIPP scores were lower with KMC (10.59) and alternative female KC (11.24) than swaddling (12.96) and heart rate normalisation took 111, 117 and 149 seconds respectively. The p values were <0.001 for individual groups and outcomes. KMC fared better than alternative female KC for both pain (p = 0.045) and heart rate (p = 0.013).ConclusionProviding KMC and alternative female KC before heel lancing resulted in better pain relief than swaddling.
Idarucizumab for Reversal of Dabigatran Prior to Acute Surgery: A Schematic Approach Based on a Case Report
Authors: Rosenberg Lene , Gerstrøm Gustav , Nybo Mads 
Published: December 2016

AbstractDabigatran, an oral direct thrombin inhibitor, is frequently used in treatment of venous thromboembolism and prevention of stroke in non‐valvular atrial fibrillation. Recently, idarucizumab, a monoclonal antibody fragment that reverses the dabigatran effect, was introduced to the market to be used in case of life‐threatening bleeding or acute surgery/invasive procedures. Whether usage should be guided by measurement of plasma dabigatran and/or other coagulation parameters is, however, still uncertain. We here describe the use of idarucizumab prior to acute surgery in a patient on dabigatran and acetylsalicylic acid. In this case, the decision to use idarucizumab was based on the clinical manifestations and other routine coagulation parameters, as the plasma dabigatran concentration was not available prior to administration. Due to challenges with the plasma dabigatran analysis and taking the safety of idarucizumab into consideration, it could be questioned whether a dabigatran measurement in general is necessary in this setting. Based on this case, we suggest a scheduled approach when considering requesting a plasma dabigatran measurement prior to administration of idarucizumab.
Update review of the acute porphyrias
Authors: Stein Penelope E. , Badminton Michael N. , Rees David C. 
Published: December 2016

SummaryAcute porphyrias are rare inherited disorders due to deficiencies of haem synthesis enzymes. To date, all UK cases have been one of the three autosomal dominant forms, although penetrance is low and most gene carriers remain asymptomatic. Clinical presentation is typically with acute neurovisceral attacks characterised by severe abdominal pain, vomiting, tachycardia and hypertension. Severe attacks may be complicated by hyponatraemia, peripheral neuropathy sometimes causing paralysis, seizures and psychiatric features. Attacks are triggered by prescribed drugs, alcohol, hormonal changes, fasting or stress. The diagnosis is made by finding increased porphobilinogen excretion in a light‐protected random urine sample. Management includes administration of intravenous human haemin and supportive treatment with non‐porphyrinogenic drugs. A few patients develop recurrent attacks, a chronic illness requiring specialist management. Late complications include chronic pain, hepatocellular carcinoma, chronic renal failure and hypertension. In the UK, the National Acute Porphyria Service provides clinical advice and supplies haemin when indicated.
Randomized phase 2 study of otlertuzumab and bendamustine versus bendamustine in patients with relapsed chronic lymphocytic leukaemia
Authors: Robak Tadeusz , Hellmann Andrzej , Kloczko Janusz , Loscertales Javier , Lech‐Maranda Ewa , Pagel John M. , Mato Anthony , Byrd John C. , Awan Farrukh T. , Hebart Holger , Garcia‐Marco Jose A. , Hill Brian T. , Hallek Michael , Eisenfeld Amy J. , Stromatt Scott C. , Jaeger Ulrich 
Published: December 2016

SummaryOtlertuzumab (TRU‐016) is a humanized anti‐CD37 protein therapeutic that triggers direct caspase‐independent apoptosis of malignant B cells and induces antibody‐dependent cell‐mediated cytotoxicity. Patients with relapsed chronic lymphocytic leukaemia (CLL) received either otlertuzumab (20 mg/kg) weekly by IV infusion for two 28‐day cycles then every 14 days for four 28‐day cycles and IV bendamustine (70 mg/m2) on Days 1 and 2 of each cycle for up to six 28‐day cycles or bendamustine alone. Thirty‐two patients were treated with otlertuzumab and bendamustine and 33 with bendamustine alone. Overall response rate according to the International Workshop on Chronic Lymphocytic Leukaemia criteria was 69% in the otlertuzumab and bendamustine arm and 39% in the bendamustine alone arm (P = 0·025). Median progression‐free survival (PFS) was 15·9 months in the otlertuzumab and bendamustine arm and 10·2 months in the bendamustine alone arm (P = 0·0192). There was a higher incidence of pyrexia (34% vs. 12%) and neutropenia (59% vs. 39%) with the combination but this did not result in a higher incidence of severe (grade 3/4) infections (13% vs. 27%). This combination significantly increased the response rate and prolonged the PFS over single agent bendamustine in patients with relapsed or refractory CLL.
Dawning of the age of genomics for platelet granule disorders: improving insight, diagnosis and management
Authors: Bariana Tadbir K. , Ouwehand Willem H. , Guerrero Jose A. , Gomez Keith ,   the BRIDGE Bleeding, Thrombotic and Platelet Disorders and ThromboGenomics Consortia
Published: December 2016

SummaryInherited disorders of platelet granules are clinically heterogeneous and their prevalence is underestimated because most patients do not undergo a complete diagnostic work‐up. The lack of a genetic diagnosis limits the ability to tailor management, screen family members, aid with family planning, predict clinical progression and detect serious consequences, such as myelofibrosis, lung fibrosis and malignancy, in a timely manner. This is set to change with the introduction of high throughput sequencing (HTS) as a routine clinical diagnostic test. HTS diagnostic tests are now available, affordable and allow parallel screening of DNA samples for variants in all of the 80 known bleeding, thrombotic and platelet genes. Increased genetic diagnosis and curation of variants is, in turn, improving our understanding of the pathobiology and clinical course of inherited platelet disorders. Our understanding of the genetic causes of platelet granule disorders and the regulation of granule biogenesis is a work in progress and has been significantly enhanced by recent genomic discoveries from high‐powered genome‐wide association studies and genome sequencing projects. In the era of whole genome and epigenome sequencing, new strategies are required to integrate multiple sources of big data in the search for elusive, novel genes underlying granule disorders.
The future of academic haematology
Authors: Hay Deborah , Hatton Christian S.R. , Weatherall David J. 
Published: December 2016

SummaryRecent advances in the basic medical sciences, particularly cell biology and genomics, have great promise for the future development of all aspects of haematological practice. They will also impinge on the hitherto neglected fields of haematology, including haematology involving the care of the rapidly increasing number of elderly patients and the complex problems of haematological practice in the developing countries. To obtain the maximum benefit from these new developments it will be necessary to review the patterns of training of haematologists of the future at every level. In short, it will be important to try to design and develop various career pathways for training haematologists including those who wish to work full time in basic research, combine research with clinical practice, or commit all their time to clinical work and teaching.