bluuebunny/crossref_metadata_2025_split huggingface dataset:
Measurable residual disease at myeloablative allogeneic transplantation in adults with acute lymphoblastic leukemia: a retrospective registry study on 2780 patients from the acute leukemia working party of the EBMT
Authors: Pavlů Jiří , Labopin Myriam , Niittyvuopio Riitta , Socié Gerard , Yakoub-Agha Ibrahim , Wu Depei , Remenyi Peter , Passweg Jakob , Beelen Dietrich W. , Aljurf Mahmoud , Kröger Nicolaus , Labussière-Wallet Hélène , Perić Zinaida , Giebel Sebastian , Nagler Arnon , Mohty Mohamad 
Published: October 2019

Abstract

Background
Assessment of measurable residual disease (MRD) is rapidly transforming the therapeutic and prognostic landscape of a wide range of hematological malignancies. Its prognostic value in acute lymphoblastic leukemia (ALL) has been established and MRD measured at the end of induction is increasingly used to guide further therapy. Although MRD detectable immediately before allogeneic hematopoietic cell transplantation (HCT) is known to be associated with poor outcomes, it is unclear if or to what extent this differs with different types of conditioning.

Methods
In this retrospective registry study, we explored whether measurable residual disease (MRD) before allogeneic hematopoietic cell transplantation (HCT) for acute lymphoblastic leukemia is associated with different outcomes in recipients of myeloablative total body irradiation (TBI)-based versus chemotherapy-based conditioning. We analyzed outcomes of 2780 patients (median age 38 years, range 18–72) who underwent first HCT in complete remission between 2000 and 2017 using sibling or unrelated donors.

Results
In 1816 of patients, no disease was detectable, and in 964 patients, MRD was positive. Conditioning was TBI-based in 2122 (76%) transplants. In the whole cohort MRD positivity was a significant independent factor for lower overall survival (OS) and leukemia-free survival (LFS), and for higher relapse incidence (RI), with respective hazard ratios (HR, 95% confidence intervals) of 1.19 (1.02–1.39), 1.26 (1.1–1.44), and 1.51 (1.26–1.8). TBI was associated with a higher OS, LFS, and lower RI with HR of 0.75 (0.62–0.90), 0.70 (0.60–0.82), and 0.60 (0.49–0.74), respectively. No significant interaction was found between MRD status and conditioning. When investigating the impact of MRD separately in the TBI and chemotherapy-based conditioning cohorts by multivariate analysis, we found MRD positivity to be associated with lower OS and LFS and higher RI in the TBI group, and with higher RI in the chemotherapy group. TBI-based conditioning was associated with improved outcomes in both MRD-negative and MRD-positive patients.

Conclusions
In this large study, we confirmed that patients who are MRD-negative prior to HCT achieve superior outcomes. This is particularly apparent if TBI conditioning is used. All patients with ALL irrespective of MRD status benefit from TBI-based conditioning in the myeloablative setting.
Advances in omics-based methods to identify novel targets for malaria and other parasitic protozoan infections
Authors: Cowell Annie N. , Winzeler Elizabeth A. 
Published: October 2019

Abstract
A major advance in antimalarial drug discovery has been the shift towards cell-based phenotypic screening, with notable progress in the screening of compounds against the asexual blood stage, liver stage, and gametocytes. A primary method for drug target deconvolution in Plasmodium falciparum is in vitro evolution of compound-resistant parasites followed by whole-genome scans. Several of the most promising antimalarial drug targets, such as translation elongation factor 2 (eEF2) and phenylalanine tRNA synthetase (PheRS), have been identified or confirmed using this method. One drawback of this method is that if a mutated gene is uncharacterized, a substantial effort may be required to determine whether it is a drug target, a drug resistance gene, or if the mutation is merely a background mutation. Thus, the availability of high-throughput, functional genomic datasets can greatly assist with target deconvolution. Studies mapping genome-wide essentiality in P. falciparum or performing transcriptional profiling of the host and parasite during liver-stage infection with P. berghei have identified potentially druggable pathways. Advances in mapping the epigenomic regulation of the malaria parasite genome have also enabled the identification of key processes involved in parasite development. In addition, the examination of the host genome during infection has identified novel gene candidates associated with susceptibility to severe malaria. Here, we review recent studies that have used omics-based methods to identify novel targets for interventions against protozoan parasites, focusing on malaria, and we highlight the advantages and limitations of the approaches used. These approaches have also been extended to other protozoan pathogens, including Toxoplasma, Trypanosoma, and Leishmania spp., and these studies highlight how drug discovery efforts against these pathogens benefit from the utilization of diverse omics-based methods to identify promising drug targets.
Audit of surgical services in a teaching hospital in Addis Ababa, Ethiopia
Authors: Gebresellassie Hailu Wondimu , Tamerat Girmaye 
Published: October 2019

AbstractObjectiveThe aim of the study is descriptively analyze services in terms of surgical care, performance and outcome in department of surgery of ZMH which is a university affiliated general hospital in Addis Ababa, Ethiopia. Data on mode of admission, procedures done and outcome were collected from a monthly audit report, patients file. Information on the number of operating days missed and patients cancelled after being scheduled for surgery were collected from OR logo book.ResultEmergency operations constitute 57.4% of all operations. Appendectomy is the commonest emergency operation accounting for 41.5%. Thyroid and gallbladder surgeries were the most common elective operations accounting for 23.5% and 22% respectively. There were 26 and 2 deaths from the emergency and elective operations making the postoperative mortality rate of 2.8% and 0.02% respectively. The average hospital stay of a patient is 3.74 days. 23 of 211 (14.7%) operation dates were missed for various reasons. 81 of 693 (11.7%) elective operations were not done the first time they were scheduled. In conclusion this study showed emergency surgery out number elective surgeries, unacceptably high number of operation days are missed and scheduled surgeries are cancelled.
Health-related quality of life and associated factors among epileptic patients on treatment follow up at public hospitals of Wollega zones, Ethiopia, 2018
Authors: Abadiga Muktar , Mosisa Getu , Amente Tadele , Oluma Adugna 
Published: October 2019

AbstractObjectiveThe aim of this study was to assess health-related quality of life and its associated factors among epileptic patients in public hospitals of Wollega zones, Ethiopia. Institutional based cross-sectional study was conducted on 402 epileptic patients, from March 01 to March 30, 2018. Multiple linear regression with backward elimination was used, and all analyses were conducted at the 0.05 significance level.ResultsThe overall mean total score on the WHOQOL-BREF scale was 60.47 with ± 23.07 SD. Monthly income ≤ 500 EB (β = − 12.49, P < 0.001), living alone (β = − 7.11, P = 0.007), adverse drug reaction (β = − 10.86, P < 0.001), comorbidity of anxiety (β = − 12.99, P < 0.001), perceived social stigma (β = − 9.73, P < 0.001) and frequency of seizure once per week (β = − 8.41, P = 0.001) were negatively associated with quality of life of epileptic patients. The mean quality of life of patients living with epilepsy in this study was low. The clinician should early recognize and treat drug side effects, detect and manage comorbidity, and control seizure in order to increase quality of life of epileptic patients.
Effects of sodium houttuyfonate on transcriptome of Pseudomonas aeruginosa
Authors: Zhao Yeye , Si Yuanqing , Mei Longfei , Wu Jiadi , Shao Jing , Wang Changzhong , Wu Daqiang 
Published: October 2019

Abstract

Objectives
The purpose of this experiment is to analyze the changes of transcriptome in Pseudomonas aeruginosa under the action of sodium houttuyfonate (SH) to reveal the possible mechanism of SH inhibiting P. aeruginosa. We analyzed these data in order to compare the transcriptomic differences of P. aeruginosa in SH treatment and blank control groups.

Data description
In this project, RNA-seq of BGISEQ-500 platform was used to sequence the transcriptome of P. aeruginosa, and sequencing data of 8 samples of P. aeruginosa are generated as follows: SH treatment (SH1, SH2, SH3, SH4), negative control (Control 1, Control 2, Control 3, Control 4). Quality control is carried out on raw reads to determine whether the sequencing data is suitable for subsequent analysis. Totally 170.53 MB of transcriptome sequencing data is obtained. Then the filtered clean reads are aligned and compared to the reference genome to proceed second quality control. After completion, 5938 genes are assembled from sequencing data. Further quantitative analysis of genes and screening of differentially expressed genes based on gene expression level reveals that there are 2047 significantly differentially expressed genes under SH treatment, including 368 up-regulated genes and 1679 down-regulated genes.
Disruption of PHF21A causes syndromic intellectual disability with craniofacial anomalies, epilepsy, hypotonia, and neurobehavioral problems including autism
Authors: Kim Hyung-Goo , Rosenfeld Jill A. , Scott Daryl A. , Bénédicte Gerard , Labonne Jonathan D. , Brown Jason , McGuire Marianne , Mahida Sonal , Naidu Sakkubai , Gutierrez Jacqueline , Lesca Gaetan , des Portes Vincent , Bruel Ange-Line , Sorlin Arthur , Xia Fan , Capri Yline , Muller Eric , McKnight Dianalee , Torti Erin , Rüschendorf Franz , Hummel Oliver , Islam Zeyaul , Kolatkar Prasanna R. , Layman Lawrence C. , Ryu Duchwan , Kong Il-Keun , Madan-Khetarpal Suneeta , Kim Cheol-Hee 
Published: October 2019

Abstract

Background
PHF21A has been associated with intellectual disability and craniofacial anomalies based on its deletion in the Potocki-Shaffer syndrome region at 11p11.2 and its disruption in three patients with balanced translocations. In addition, three patients with de novo truncating mutations in PHF21A were reported recently. Here, we analyze genomic data from seven unrelated individuals with mutations in PHF21A and provide detailed clinical descriptions, further expanding the phenotype associated with PHF21A haploinsufficiency.

Methods
Diagnostic trio whole exome sequencing, Sanger sequencing, use of GeneMatcher, targeted gene panel sequencing, and MiSeq sequencing techniques were used to identify and confirm variants. RT-qPCR was used to measure the normal expression pattern of PHF21A in multiple human tissues including 13 different brain tissues. Protein-DNA modeling was performed to substantiate the pathogenicity of the missense mutation.

Results
We have identified seven heterozygous coding mutations, among which six are de novo (not maternal in one). Mutations include four frameshifts, one nonsense mutation in two patients, and one heterozygous missense mutation in the AT Hook domain, predicted to be deleterious and likely to cause loss of PHF21A function. We also found a new C-terminal domain composed of an intrinsically disordered region. This domain is truncated in six patients and thus likely to play an important role in the function of PHF21A, suggesting that haploinsufficiency is the likely underlying mechanism in the phenotype of seven patients. Our results extend the phenotypic spectrum of PHF21A mutations by adding autism spectrum disorder, epilepsy, hypotonia, and neurobehavioral problems. Furthermore, PHF21A is highly expressed in the human fetal brain, which is consistent with the neurodevelopmental phenotype.

Conclusion
Deleterious nonsense, frameshift, and missense mutations disrupting the AT Hook domain and/or an intrinsically disordered region in PHF21A were found to be associated with autism spectrum disorder, epilepsy, hypotonia, neurobehavioral problems, tapering fingers, clinodactyly, and syndactyly, in addition to intellectual disability and craniofacial anomalies. This suggests that PHF21A is involved in autism spectrum disorder and intellectual disability, and its haploinsufficiency causes a diverse neurological phenotype.
Rotavirus C: prevalence in suckling piglets and development of virus-like particles to assess the influence of maternal immunity on the disease development
Authors: Chepngeno Juliet , Diaz Annika , Paim Francine C. , Saif Linda J. , Vlasova Anastasia N. 
Published: October 2019

AbstractRotavirus C (RVC) has been detected increasingly in humans and swine in different countries, including the US. It is associated with significant economic losses due to diarrheal disease in nursing piglets. In this study we aimed: (1) to determine the prevalence of RVC in healthy and diarrheic suckling piglets on US farms; and (2) to evaluate if maternal antibody (Ab) levels were associated with protection of newborn suckling piglets against RVC. There was a significantly higher prevalence (p = 0.0002) of litters with diarrhea born to gilts compared with those born to multiparous sows. Of 113 nursing piglet fecal samples tested, 76.1% were RVC RNA positive. Fecal RVC RNA was detected in significantly (p = 0.0419) higher quantities and more frequently in piglets with diarrhea compared with healthy ones (82.5 vs. 69.9%). With the exception of the historic strain Cowden (G1 genotype), field RVC strains do not replicate in cell culture, which is a major impediment for studying RVC pathogenesis and immunity. To circumvent this, we generated RVC virus-like particles (VLPs) for Cowden (G1), RV0104 (G3) and RV0143 (G6) and used them as antigens in ELISA to detect swine RVC Abs in serum and milk from the sows. Using RVC-VLP Ab ELISA we demonstrated that sows with diarrheic litters had significantly lower RVC IgA and IgG Ab titers in milk compared to those with healthy litters. Thus, our data suggest that insufficient lactogenic protection provided by gilts plays a key role in the development of and the increased prevalence of clinical RVC disease.
The safety and tolerability profile of bilastine for chronic urticaria in children
Authors: Papadopoulos Nikolaos G. , Zuberbier Torsten 
Published: October 2019

Abstract

Background
Urticaria is a condition defined by the development of wheals, angioedema or both. It is classified based on its duration as acute (≤ 6 weeks) or chronic (> 6 weeks). Chronic urticaria is less frequent than acute one in children, but it represents a debilitating condition, always needing treatment. Symptoms affect child’s daily activities and disturb sleeping patterns, causing emotional distress and negatively influencing learning and cognition. Therefore, the management of chronic urticaria must point to a complete control of symptoms, taking into account tolerability and the patient quality of life.

Review of literature
The recently revised version of EAACI/GA2LEN/EDF/WAO guideline on the management of urticaria, in addition to recommending the use of second-generation H1 antihistamines as the treatment of choice, gives particular attention to their use in the paediatric population. Bilastine has been studied in children; at the dose of 10 mg/once daily, it is licenced for the symptomatic relief of urticaria in children ≥ 6 to 11 years, in the European Union, in appropriate formulation, as oral solution or orodispersible tablet.

Conclusions
In line with the recent guideline recommendation for the use of second generation H1 antihistamines in children we have reviewed the safety and tolerability profile of bilastine in children with chronic urticaria.
Stochastic processes shape microeukaryotic community assembly in a subtropical river across wet and dry seasons
Authors: Chen Weidong , Ren Kexin , Isabwe Alain , Chen Huihuang , Liu Min , Yang Jun 
Published: October 2019

Abstract
Background
The deep mechanisms (deterministic and/or stochastic processes) underlying community assembly are a central challenge in microbial ecology. However, the relative importance of these processes in shaping riverine microeukaryotic biogeography is still poorly understood. Here, we compared the spatiotemporal and biogeographical patterns of microeukaryotic community using high-throughput sequencing of 18S rRNA gene and multivariate statistical analyses from a subtropical river during wet and dry seasons.

Results
Our results provide the first description of biogeographical patterns of microeukaryotic communities in the Tingjiang River, the largest river in the west of Fujian province, southeastern China. The results showed that microeukaryotes from both wet and dry seasons exhibited contrasting community compositions, which might be owing to planktonic microeukaryotes having seasonal succession patterns. Further, all components of the microeukaryotic communities (including total, dominant, always rare, and conditionally rare taxa) exhibited a significant distance-decay pattern in both seasons, and these communities had a stronger distance-decay relationship during the dry season, especially for the conditionally rare taxa. Although several variables had a significant influence on the microeukaryotic communities, the environmental and spatial factors showed minor roles in shaping the communities. Importantly, these microeukaryotic communities were strongly driven by stochastic processes, with 89.9%, 88.5%, and 89.6% of the community variation explained by neutral community model during wet, dry, and both seasons, respectively. The neutral community model also explained a large fraction of the community variation across different taxonomic groups and levels. Additionally, the microeukaryotic taxa, which were above and below the neutral prediction, were ecologically and taxonomically distinct groups, which might be interactively structured by deterministic and stochastic processes.

Conclusions
This study demonstrated that stochastic processes are sufficient in shaping substantial variation in river microeukaryotic metacommunity across different hydrographic regimes, thereby providing a better understanding of spatiotemporal patterns, processes, and mechanisms of microeukaryotic community in waters.
Phage-centric ecological interactions in aquatic ecosystems revealed through ultra-deep metagenomics
Authors: Kavagutti Vinicius S. , Andrei Adrian-Ştefan , Mehrshad Maliheh , Salcher Michaela M. , Ghai Rohit 
Published: October 2019

Abstract
The persistent inertia in the ability to culture environmentally abundant microbes from aquatic ecosystems represents an obstacle in disentangling the complex web of ecological interactions spun by a diverse assortment of participants (pro- and eukaryotes and their viruses). In aquatic microbial communities, the numerically most abundant actors, the viruses, remain the most elusive, and especially in freshwaters their identities and ecology remain unknown. Here, using ultra-deep metagenomic sequencing from pelagic freshwater habitats, we recovered complete genomes of > 2000 phages, including small “miniphages” and large “megaphages” infecting iconic freshwater prokaryotic lineages. For instance, abundant freshwater Actinobacteria support infection by a very broad size range of phages (13–200 Kb). We describe many phages encoding genes that likely afford protection to their host from reactive oxygen species (ROS) in the aquatic environment and in the oxidative burst in protist phagolysosomes (phage-mediated ROS defense). Spatiotemporal abundance analyses of phage genomes revealed evanescence as the primary dynamic in upper water layers, where they displayed short-lived existences. In contrast, persistence was characteristic for the deeper layers where many identical phage genomes were recovered repeatedly. Phage and host abundances corresponded closely, with distinct populations displaying preferential distributions in different seasons and depths, closely mimicking overall stratification and mixis.
Disordered eating attitudes correlate with body dissatisfaction among Kuwaiti male college students
Authors: Ebrahim Mariam , Alkazemi Dalal , Zafar Tasleem A. , Kubow Stan 
Published: October 2019

Abstract

Background
The prevalence of disordered eating attitudes and body dissatisfaction based on muscularity and body fat was investigated among male college students in Kuwait with a range of body mass index values including underweight, normal weight, overweight, and obese participants.

Methods
Data were collected, using the Eating Attitudes Test (EAT-26) and the Bodybuilder Image Grid (BIG), from 400 male undergraduate students (84.8% Kuwaiti nationals) recruited from both public and private universities in Kuwait. An anonymous, self-administered questionnaire was used to determine the prevalence of symptomatology indicative of anorexia nervosa and bulimia nervosa and to examine the associations between body dissatisfaction and muscularity and body fat.

Results
Most participants were dissatisfied with their current muscle mass and body fat (67.3 and 69%, respectively). Logistic regression analyses produced odds ratios (ORs) demonstrating that students dissatisfied with their muscularity and body fat and those who indicated a desire to decrease both muscularity and body fat had significantly higher odds of being at risk of disordered eating attitudes (OR = 2.241, 95% CI [1.17, 3.6], p = .032, and OR = 1.898, 95% CI [1.214, 2.967], p = .005, respectively). Obese participants also had higher odds of exhibiting disordered eating attitudes (OR = 2.06, 95% CI [1.17, 3.60], p = .011).

Conclusion
The high proportion of disordered eating attitudes among Kuwaiti college men was associated with high levels of body image dissatisfaction in relation to both body fat and muscularity. High levels of eating disorder symptoms were also linked to obesity.
Single to three nucleotide polymorphisms assay of miRNA-21 using DNA capped gold nanoparticle-electrostatic force microscopy system
Authors: Lee Hyungbeen , Lee Soo Hyun 
Published: October 2019

Abstract
Aberrant expression of microRNA (miRNA) in biological cells is crucial evidence for early diagnosis of cancer. Improvements in molecular detection techniques enabled miRNA to be detected in human blood obtained from liquid biopsies (e.g., Polymerase chain reaction, microcantilever sensor, and surface-enhanced Raman spectroscopy). Despite the advances in molecular detection technology, a simultaneous detection of single or multiple mutations of miRNAs is still a challenge. Here, we show electrostatic force microscopy (EFM) imaging of DNA-capped gold nanoparticles (DCNP) that enables discrimination between single and three-nucleotide polymorphism (SNP, TNP): 1 and 3-point mismatched nucleotides in miRNA-21 (M1_RNA, M3_RNA). Detection of the miRNA-21 and their mutant sequence is owing to sterically well-adjusted DNA–RNA interactions that take place within the confined spaces of DCNP. The average absolute EFM amplitudes of DCNP interacting with M1_RNA, and M3_RNA (− 81.0 ± 11.5, and − 65.7 ± 8.2 mV) were found to be lower than the DCNP reacting with normal (non-mutant) miRNA-21 (− 100.2 ± 13.6 mV).