bluuebunny/crossref_metadata_2025_split huggingface dataset:
Hematopoietic stem cell transplantation for adolescents and adults with inborn errors of immunity: an EBMT IEWP study
Authors: Albert Michael H. , Sirait Tiarlan , Eikema Dirk-Jan , Bakunina Katerina , Wehr Claudia , Suarez Felipe , Fox Maria Laura , Mahlaoui Nizar , Gennery Andrew R. , Lankester Arjan C. , Beier Rita , Bernardo Maria Ester , Bigley Venetia , Lindemans Caroline A. , Burns Siobhan O. , Carpenter Ben , Dybko Jaroslaw , Güngör Tayfun , Hauck Fabian , Lum Su Han , Balashov Dmitry , Meisel Roland , Moshous Despina , Schulz Ansgar , Speckmann Carsten , Slatter Mary A. , Strahm Brigitte , Uckan-Cetinkaya Duygu , Meyts Isabelle , Vallée Tanja C. , Wynn Robert , Neven Bénédicte , Morris Emma C. , Aiuti Alessandro , Maschan Alexei , Aljurf Mahmoud , Gedde-Dahl Tobias , Gurman Gunhan , Bordon Victoria , Kriván Gergely , Locatelli Franco , Porta Fulvio , Valcárcel David , Beguin Yves , Faraci Maura , Kröger Nicolaus , Kulagin Aleksandr , Shaw Peter J. , Veelken Joan Hendrik , Diaz de Heredia Cristina , Fagioli Franca , Felber Matthias , Gruhn Bernd , Holter Wolfgang , Rössig Claudia , Sedlacek Petr , Apperley Jane , Ayas Mouhab , Bodova Ivana , Choi Goda , Cornelissen J.J. , Sirvent Anne , Khan Anjum , Kupesiz Alphan , Lenhoff Stig , Ozdogu Hakan , von der Weid Nicolas , Rovira Montserrat , Schots Rik , Vinh Donald C. 
Published: March 2022

Abstract
Allogeneic hematopoietic stem cell transplantation (HSCT) is the gold standard curative therapy for infants and children with many inborn errors of immunity (IEI), but adolescents and adults with IEI are rarely referred for transplant. Lack of published HSCT outcome data outside small, single-center studies and perceived high risk of transplant-related mortality have delayed the adoption of HSCT for IEI patients presenting or developing significant organ damage later in life. This large retrospective, multicenter HSCT outcome study reports on 329 IEI patients (age range, 15-62.5 years at HSCT). Patients underwent first HSCT between 2000 and 2019. Primary endpoints were overall survival (OS) and event-free survival (EFS). We also evaluated the influence of IEI-subgroup and IEI-specific risk factors at HSCT, including infections, bronchiectasis, colitis, malignancy, inflammatory lung disease, splenectomy, hepatic dysfunction, and systemic immunosuppression. At a median follow-up of 44.3 months, the estimated OS at 1 and 5 years post-HSCT for all patients was 78% and 71%, and EFS was 65% and 62%, respectively, with low rates of severe acute (8%) or extensive chronic (7%) graft-versus-host disease. On univariate analysis, OS and EFS were inferior in patients with primary antibody deficiency, bronchiectasis, prior splenectomy, hepatic comorbidity, and higher hematopoietic cell transplant comorbidity index scores. On multivariable analysis, EFS was inferior in those with a higher number of IEI-associated complications. Neither age nor donor had a significant effect on OS or EFS. We have identified age-independent risk factors for adverse outcome, providing much needed evidence to identify which patients are most likely to benefit from HSCT.
miR390 family of Cymbidium goeringii is involved in the development of reproductive organs in transgenic Arabidopsis
Authors: Xu Zihan , Liu Qian , Chen Yue , He Yuanhao , Hu Fengrong 
Published: March 2022

Abstract
Background
miR390s is an ancient family with a high level of conservation among plant miRNAs. Through the auxin signal transduction pathway, miR390 participates in diverse biological processes of plant growth and development. As an important Chinese traditional orchid, Cymbidium goeringii has unique flower shape and elegant fragrance. But its development has been greatly restricted because of the low flower bud differentiation and the difficult reproduction. This study aims to provide guidance for the role of cgo-miR390 in reproductive organ development to enhance the ornamental and economic value of Cymbidium.

Results
MIR390a, MIR390b and MIR390c of C. goeringii were cloned, and their length ranged from 130 to 150 nt. Each precursor sequence of cgo-miR390 contains 2 to 3 mature miRNAs. Three kinds of cgo-miR390s displayed distinct temporal and spatial expression patterns during floral development in C. goeringii. The overexpression of MIR390s alters morphology and function of stamens and pistils in Arabidopsis, such as enlargement of anther aspect ratio and separation of stylar and stigmas, which affects the development of fruits and seeds. In particular, the pollen amount decreased and the seed abortion rate increased in cgo-MIR390c-overexpressed plants.

Conclusions
cgo-miR390 family affected the development of reproductive organs in transgenic Arabidopsis. The study provides references for the genetic improvement for orchid with potentially great economic benefit.
Information exchange networks for chronic diseases in primary care practices in Germany: a cross-sectional study
Authors: Arnold Christine , Hennrich Patrick , Wensing Michel 
Published: March 2022

Abstract
Background
Coordination of care requires information exchange between health workers. The structure of their information exchange networks may influence the quality and efficiency of healthcare delivery. The aim of this study was to explore and classify information exchange networks in primary care for patients with chronic diseases in Germany.

Methods
A cross-sectional study was carried out between 2019 and 2021. As part of a larger project on coordination of care, this study focused on information exchange in practice teams regarding patients with type 2 diabetes (DM), coronary heart disease (CHD) and chronic heart failure (CHF). Social network analysis was applied to determine the number of connections, density and centralization for each of the health conditions for each of the practices. On the basis of the descriptive findings, we developed typologies of information exchange networks in primary care practices.

Results
We included 153 health workers from 40 practices, of which 25 practices were included in the social network analysis. Four types of information exchange structures were identified for the three chronic diseases: highly connected networks with low hierarchy, medium connected networks with medium hierarchy, medium connected networks with low hierarchy and lowly connected networks. Highly connected networks with low hierarchy were identified most frequently (18 networks for DM, 17 for CHD and 14 for CHF). Of the three chronic conditions, information sharing about patients with DM involved the most team members. Information exchange outside the family practice took place mainly with nurses and pharmacists.

Conclusions
This study identified four types of information exchange structures, which provides a practical tool for management and improvement in primary care. Some practices had few information transfer connections and could hardly be considered a network.

Trial registration
We registered the study prospectively on 7 November 2019 at the German Clinical Trials Register (DRKS, www.drks.de) under ID no. DRKS00019219.
A prenatal standard for fetal weight improves the prenatal diagnosis of small for gestational age fetuses in pregnancies at increased risk
Authors: Visentin Silvia , Londero Ambrogio P. , Cataneo Ilaria , Bellussi Federica , Salsi Ginevra , Pilu Gianluigi , Cosmi Erich 
Published: March 2022

Abstract
Objective
Our aim was to assess diagnostic accuracy in the prediction of small for gestational age (SGA <10th centile) and fetal growth restricted (FGR) (SGA <3rd centile) fetuses using three different sonographic methods in pregnancies at increased risk of fetal growth restriction: 1) fetal abdominal circumference (AC) z-scores, 2) estimated fetal weight (EFW) z-scores according to postnatal reference standard; 3) EFW z-scores according to a prenatal reference standard.

Methods
Singleton pregnancies at increased risk of fetal growth restriction seen in two university hospitals between 2014 and 2015 were studied retrospectively. EFW was calculated using formulas proposed by the INTERGROWTH-21st project and Hadlock; data derived from publications by the INTEGROWTH-twenty-first century project and Hadlock were used to calculate z-scores (AC and EFW). The accuracy of different methods was calculated and compared.

Results
The study group included 406 patients. Prenatal standard EFW z-scores derived from INTERGROWTH-21st project and Hadlock and co-workers performed similarly and were more accurate in identifying SGA infants than using AC z-scores or a postnatal reference standard. The subgroups analysis demonstrated that EFW prenatal standard was more or similarly accurate compared to other methods across all subgroups, defined by gestational age and birth weight.

Conclusions
Prenatal standard EFW z-scores derived from either INTERGROWTH-21 st project or Hadlock and co-workers publications demonstrated a statistically significant advantage over other biometric methods in the diagnosis of SGA fetuses.
Mixed effect analysis of factors influencing the use of insecticides treated bed nets among pregnant women in Ghana: evidence from the 2019 Malaria Indicator Survey
Authors: Klu Desmond , Aberese-Ako Matilda , Manyeh Alfred Kwesi , Immurana Mustapha , Doegah Phidelia , Dalaba Maxwell , Acquah Evelyn , Alhassan Robert Kaba , Ansah Evelyn Korkor 
Published: March 2022

Abstract
Background
Malaria during pregnancy is a major cause of maternal morbidity globally and leads to poor birth outcomes. The World Health Organization has recommended the use of insecticide treated bed nets (ITN) as one of the effective malaria preventive strategies among pregnant women in malaria endemic areas. This study, therefore, seeks to examine the individual and household factors associated with the use of ITNs among pregnant women in Ghana.

Methods
Data for this study was obtained from the 2019 Ghana Malaria Indicator Survey (GMIS) conducted between September 25 and November 24, 2019. The weighted sample comprised 353 pregnant women aged 15–49 years. Data was analyzed with SPSS version 22 using both descriptive and multilevel logistics regression modelling. Statistically significant level was set at p < 0.05.

Results
The study found that 49.2% of pregnant women in Ghana use ITN to prevent malaria. Pregnant women aged 35–49 years (AOR = 3.403, CI: 1.191–9.725), those with no formal education (AOR = 5.585, CI = 1.315–23.716), and those who had secondary education (AOR = 3.509, CI = 1.076–11.440) had higher odds of using ITN. Similarly, higher odds of ITN usage was found among who belonged to the Akan ethnic group (AOR = 7.234, CI = 1.497–34.955), dwell in male-headed households (AOR = 2.232, CI = 1.105–4.508) and those whose household heads are aged 60–69 years (AOR = 4.303, CI = 1.160–15.966). However, pregnant women who resided in urban areas (AOR = 0.355, CI = 0.216–0.582), those whose household heads aged 40–49 years (AOR = 0.175, CI = 0.066–0.467) and those who belonged to richer (AOR =0.184, CI = 0.050–0.679) and richest (AOR = 0.107, CI = 0.021–0.552) households had lower odds of using ITN for malaria prevention.

Conclusions
Individual socio-demographic and household factors such as pregnant women’s age, educational level, place of residence, ethnicity, sex and age of household head, and household wealth quintile are associated with the use of ITN for malaria prevention among pregnant women. These factors ought to be considered in strengthening malaria prevention campaigns and develop new interventions to help increase ITN utilization among vulnerable population living in malaria- endemic areas.
Hsa-miR-181a-5p, hsa-miR-182-5p, and hsa-miR-26a-5p as potential biomarkers for BCR-ABL1 among adult chronic myeloid leukemia treated with tyrosine kinase inhibitors at the molecular response
Authors: Mohd Yacob Aliza , Muhamad Nor Asiah , Chang Kian Meng , Akmal Hisham Hamidah , Mat Yusoff Yuslina , Ibrahim Latifah 
Published: March 2022

Abstract
Background
Tyrosine kinase inhibitors (TKIs) as first-line therapy for Chronic Myeloid Leukemia (CML) show a high success rate. However, a low number of patients with long-term treatment-free remission (TFR) were observed. Molecular relapse after imatinib discontinuation occurred at 50% at 24 months, with 80% occurrence within the first 6 months. One of the reasons for relapse is untimely TKIs discontinuation caused by large errors from estimates at very low-level or undetectable disease, thus warranting new biomarkers for CML.

Methods
Next Generation Sequencing (NGS) was used to identify microRNAs (miRNAs) at the molecular response in CML adult patients receiving TKIs treatment. A total of 86 samples were collected, 30 from CML patients responsive and 28 from non-responsive to imatinib therapy, and 28 from blood donors. NGS was conducted whereby 18 miRNAs were selected and validated by real-time RT-qPCR in triplicate.

Results
Hsa-miR-181a-5p was expressed significantly (p-value< 0.05) with 2.14 and 2.33-fold down-regulation in both patient groups, respectively meanwhile hsa-miR-182-5p and hsa-miR-26a-5p were significant only in the non-responsive group with 2.08 and 2.39 fold up-regulation. The down-regulation was consistent with decreased amounts of BCR-ABL1 in patients taking TKIs regardless of molecular responses. The up-regulation was consistent with the substantial presence of BCR-ABL1 in CML patients treated with TKIs at the molecular response.

Conclusions
Therefore, these miRNAs have potential as new therapeutic biomarkers for BCR-ABL1 status in adult CML patients treated with TKIs at molecular responses. These could improve current approaches and require further analysis to look for targets of these miRNAs in CML.
The impact of neurological performance and volumetrics on overall survival in brain metastasis in colorectal cancer: a retrospective single-center case series
Authors: Sander Caroline , Frydrychowicz Clara , Prasse Gordian , Taubenheim Sabine , Arlt Felix , Meixensberger Jürgen , Fehrenbach Michael Karl 
Published: March 2022

Abstract
Background
Brain metastasis (BM) of colorectal cancer is a disease with a poor prognosis of only a few months survival. However, it is difficult to estimate the individual prognosis of each patient due to the lack of definitive prognosis parameters. The number of metastases and the Karnofsky performance score are known predictors for survival. We investigated whether or not the neurological performance score and the tumor volumetrics are equally suitable predictors for survival.

Design
All patients with histologically diagnosed BM linked to colorectal cancer between 2012 and March 2020 were reviewed. The Medical Research Council Neurological Performance Score was used to quantify neurological performance. Univariate analysis with Kaplan-Meier estimate and log-rank test was performed. Survival prediction and multivariate analysis were performed employing Cox proportional hazard regression.

Results
Twenty-five patients were included in our analysis with an overall survival of 4.9 months after surgery of the BM. Survival decreased in the univariate analysis with increasing postoperative neurological performance score, low Karnofsky performance score, absence of radiation therapy and radiation therapy modality. The neurological performance score is a reliable scoring parameter for estimating the prognostic course analogous to the Karnofsky performance score. Neither preoperative nor post resection residual tumor volume had any impact on overall survival in our small cohort.

Conclusion
Our data suggest that the postoperative neurological performance is a valuable prognostic factor for colorectal cancer patients with BM. Tumor volumetrics show no correlation to survival. Further investigations with a larger number of cases are mandatory.
Novel biallelic USH2A variants in a patient with usher syndrome type IIA- a case report
Authors: Young Su Ling , Stanton Chloe M. , Livesey Benjamin J. , Marsh Joseph A. , Cackett Peter D. 
Published: March 2022

Abstract
Background
Usher Syndrome is the commonest cause of inherited blindness and deafness. The condition is clinically and genetically heterogeneous, with no current treatment. We report a case carrying novel biallelic variants in USH2A causing progressive early adolescent onset visual and hearing impairment consistent with Usher Syndrome Type IIA.

Case presentation
Our patient presented at age 13 with progressive visual field loss and hearing loss, associated with early onset of cataract in her 40s requiring lens extraction. Now 52 years old, latest best corrected visual acuity (BCVA) stands at Logmar Right Eye (RE) 0.8 and Left Eye (LE) 0.2, with significantly constricted visual fields bilaterally. She was registered partially sighted age 46. Clinical and molecular genetic assessment of the proband was consistent with a diagnosis of Usher Syndrome Type IIA. Genetic testing identified two novel USH2A variants, resulting in the premature termination codon p.Leu30Ter and a missense mutation p.Cys3251Tyr. Segregation analysis confirmed that these variants were biallelic in the affected case. Comprehensive in silico analysis confirmed that these mutations are the probable cause of Usher Syndrome Type IIA in this individual.

Conclusions
The identification of novel mutations in USH2A increases the spectrum of genetic variations that lead to Usher Syndrome, aiding genetic diagnosis, assessment of patient prognosis, and emphasising the importance of genetic testing to identify new mutations in patients with undiagnosed progressive visual loss.
Diagnosis of lung squamous cell carcinoma based on metagenomic Next-Generation Sequencing
Authors: Wei Ping , Gao Yang , Zhang Jing , Lin Jianlong , Liu Huibin , Chen Keqiang , Lin Weikai , Wang Xiaojia , Wang Chune , Liu Chao 
Published: March 2022

Abstract
Background
The clinical treatment of patients suspected of pulmonary infections often rely on empirical antibiotics. However, preliminary diagnoses were based on clinical manifestations and conventional microbiological tests, which could later be proved wrong. In this case, we presented a patient whose initial diagnosis was lung abscess, but antibiotic treatments had no effect, and metagenomic Next-Generation Sequencing (mNGS) indicated presence of neoplasm.

Case presentation
A 62-year-old female was diagnosed with lung abscess at three different health facilities. However, mNGS of bronchoalveolar lavage fluid did not support pulmonary infections. Rather, the copy number variation analysis using host DNA sequences suggested neoplasm. Using H&E staining and immunohistochemistry of lung biopsy, the patient was eventually diagnosed with lung squamous cell carcinoma.

Conclusions
mNGS not only detects pathogens and helps diagnose infectious diseases, but also has potential in detecting neoplasm via host chromosomal copy number analysis. This might be beneficial for febrile patients with unknown or complex etiology, especially when infectious diseases were initially suspected but empirical antibiotic regimen failed.
Serum D-lactate, a novel serological biomarker, is promising for the diagnosis of periprosthetic joint infection
Authors: Chen Yanyang , Wang Huhu , Chen Xiyao , Ma Hairong , Zheng Jingjie , Cao Li 
Published: March 2022

Abstract
Background
Although many markers are used for diagnosis of periprosthetic joint infection (PJI), serological screening and diagnosis for PJI are still challenging. We evaluated the performance of serum D-lactate and compared it with ESR, coagulation-related biomarkers and synovial D-lactate for the diagnosis of PJI.

Methods
Consecutive patients with preoperative blood and intraoperative joint aspiration of a prosthetic hip or knee joint before revision arthroplasty were prospectively included. The diagnosis of PJI was based on the criteria of the Musculoskeletal Infection Society, and the diagnostic values of markers were estimated based on receiver operating characteristic (ROC) curves by maximizing sensitivity and specificity using optimal cutoff values.

Results
Of 52 patients, 26 (50%) were diagnosed with PJI, and 26 (50%) were diagnosed with aseptic failure. ROC curves showed that serum D-lactate, fibrinogen (FIB) and ESR had equal areas under the curve (AUCs) of 0.80, followed by D-dimer and fibrin degradation product, which had AUCs of 0.67 and 0.69, respectively. Serum D-lactate had the highest sensitivity of 88.46% at the optimal threshold of 1.14 mmol/L, followed by FIB and ESR, with sensitivities of 80.77% and 73.08%, respectively, while there were no significant differences in specificity (73.08%, 73.08% and 76.92%, respectively).

Conclusion
Serum D-lactate showed similar performance to FIB and ESR for diagnosis of PJI. The advantages of serum D-lactate are pathogen-specific, highly sensitive, minimally invasive and rapidly available making serum D-lactate useful as a point-of-care screening test for PJI.
Does ultrasound education improve anatomy learning? Effects of the Parallel Ultrasound Hands-on (PUSH) undergraduate medicine course
Authors: Chen Wei-Ting , Kang Yi-No , Wang Ting-Cheng , Lin Che-Wei , Cheng Chung-Yi , Suk Fat-Moon , Hsu Chin-Wang , Huang Sha-Ku , Huang Wen-Cheng 
Published: March 2022

Abstract
Background
As ultrasound has become increasingly prominent in medicine, portable ultrasound is perceived as the visual stethoscope of the twenty-first century. Many studies have shown that exposing preclinical students to ultrasound training can increase their motivation and ultrasound competency. However, few studies have discussed the effect of ultrasound training on anatomy learning.

Method
The Parallel Ultrasound Hands-on (PUSH) course was designed to investigate whether or not ultrasonography training affects anatomy knowledge acquisition. The PUSH course included anatomical structures located in the chest and abdomen (target anatomy) and was conducted in parallel to the compulsory gross anatomy course.
Learners (n = 140) voluntarily participated in this elective course (learners in the course before the midterm examination (Group 1, n = 69), or after the midterm examination (Group 2, n = 71)). Anatomy examination scores (written and laboratory tests) were utilized to compare the effects of the PUSH course.

Result
Group 1 obtained significantly higher written test scores on the midterm examination (mean difference [MD] = 1.5(7.6%), P = 0.014, Cohen’s d = 0.43). There was no significant difference in the final examination scores between the two groups (Written Test: MD = 0.3(1.6%), P = 0.472). In Laboratory test, both mid-term (MD:0.7(2.8%), P = 0.308) and final examination (MD:0.3(1.5%), P = 0.592) showed no significant difference between two groups. Students provided positive feedback in overall learning self-efficacy after the PUSH course (Mean = 3.68, SD = ±0.56 on a 5-point Likert scale). Learning self-efficacy in the cognitive domain was significantly higher than that in the affective domain (MD = 0.58; P < 0.001) and psychomotor domain (MD = 0.12; P = 0.011).

Conclusion
The PUSH course featured a hands-on learning design that empowered medical students to improve their anatomy learning.