bluuebunny/crossref_metadata_2025_split huggingface dataset:
Molecular, clinical, and prognostic implications of PTPN11 mutations in acute myeloid leukemia
Authors: Fobare Sydney , Kohlschmidt Jessica , Ozer Hatice Gulcin , Mrózek Krzysztof , Nicolet Deedra , Mims Alice S. , Garzon Ramiro , Blachly James S. , Orwick Shelley , Carroll Andrew J. , Stone Richard M. , Wang Eunice S. , Kolitz Jonathan E. , Powell Bayard L. , Oakes Christopher C. , Eisfeld Ann-Kathrin , Hertlein Erin , Byrd John C. 
Published: November 2021

Abstract
Prognostic factors associated with chemotherapy outcomes in patients with acute myeloid leukemia (AML) are extensively reported, and one gene whose mutation is recognized as conferring resistance to several newer targeted therapies is protein tyrosine phosphatase non-receptor type 11 (PTPN11). The broader clinical implications of PTPN11 mutations in AML are still not well understood. The objective of this study was to determine which cytogenetic abnormalities and gene mutations co-occur with PTPN11 mutations and how PTPN11 mutations affect outcomes of patients treated with intensive chemotherapy. We studied 1725 patients newly diagnosed with AML (excluding acute promyelocytic leukemia) enrolled onto the Cancer and Leukemia Group B/Alliance for Clinical Trials in Oncology trials. In 140 PTPN11-mutated patient samples, PTPN11 most commonly co-occurred with mutations in NPM1, DNMT3A, and TET2. PTPN11 mutations were relatively common in patients with an inv(3)(q21q26)/t(3;3)(q21;q26) and a normal karyotype but were very rare in patients with typical complex karyotype and core-binding factor AML. Mutations in the N-terminal SH2 domain of PTPN11 were associated with a higher early death rate than those in the phosphatase domain. PTPN11 mutations did not affect outcomes of NPM1-mutated patients, but these patients were less likely to have co-occurring kinase mutations (ie, FLT3-ITD), suggesting activation of overlapping signaling pathways. However, in AML patients with wild-type NPM1, PTPN11 mutations were associated with adverse patient outcomes, providing a rationale to study the biology and treatment approaches in this molecular group. This trial was registered at www.clinicaltrials.gov as #NCT00048958 (CALGB 8461), #NCT00899223 (CALGB 9665), and #NCT00900224 (CALGB 20202).
Prediction of autism spectrum disorder diagnosis using nonlinear measures of language-related EEG at 6 and 12 months
Authors: Peck Fleming C. , Gabard-Durnam Laurel J. , Wilkinson Carol L. , Bosl William , Tager-Flusberg Helen , Nelson Charles A. 
Published: November 2021

Abstract
Background
Early identification of autism spectrum disorder (ASD) provides an opportunity for early intervention and improved developmental outcomes. The use of electroencephalography (EEG) in infancy has shown promise in predicting later ASD diagnoses and in identifying neural mechanisms underlying the disorder. Given the high co-morbidity with language impairment, we and others have speculated that infants who are later diagnosed with ASD have altered language learning, including phoneme discrimination. Phoneme learning occurs rapidly in infancy, so altered neural substrates during the first year of life may serve as early, accurate indicators of later autism diagnosis.

Methods
Using EEG data collected at two different ages during a passive phoneme task in infants with high familial risk for ASD, we compared the predictive accuracy of a combination of feature selection and machine learning models at 6 months (during native phoneme learning) and 12 months (after native phoneme learning), and we identified a single model with strong predictive accuracy (100%) for both ages. Samples at both ages were matched in size and diagnoses (n = 14 with later ASD; n = 40 without ASD). Features included a combination of power and nonlinear measures across the 10‑20 montage electrodes and 6 frequency bands. Predictive features at each age were compared both by feature characteristics and EEG scalp location. Additional prediction analyses were performed on all EEGs collected at 12 months; this larger sample included 67 HR infants (27 HR-ASD, 40 HR-noASD).

Results
Using a combination of Pearson correlation feature selection and support vector machine classifier, 100% predictive diagnostic accuracy was observed at both 6 and 12 months. Predictive features differed between the models trained on 6- versus 12-month data. At 6 months, predictive features were biased to measures from central electrodes, power measures, and frequencies in the alpha range. At 12 months, predictive features were more distributed between power and nonlinear measures, and biased toward frequencies in the beta range. However, diagnosis prediction accuracy substantially decreased in the larger, more behaviorally heterogeneous 12-month sample.

Conclusions
These results demonstrate that speech processing EEG measures can facilitate earlier identification of ASD but emphasize the need for age-specific predictive models with large sample sizes to develop clinically relevant classification algorithms.
Nested Stochastic Block Models applied to the analysis of single cell data
Authors: Morelli Leonardo , Giansanti Valentina , Cittaro Davide 
Published: November 2021

AbstractSingle cell profiling has been proven to be a powerful tool in molecular biology to understand the complex behaviours of heterogeneous system. The definition of the properties of single cells is the primary endpoint of such analysis, cells are typically clustered to underpin the common determinants that can be used to describe functional properties of the cell mixture under investigation. Several approaches have been proposed to identify cell clusters; while this is matter of active research, one popular approach is based on community detection in neighbourhood graphs by optimisation of modularity. In this paper we propose an alternative and principled solution to this problem, based on Stochastic Block Models. We show that such approach not only is suitable for identification of cell groups, it also provides a solid framework to perform other relevant tasks in single cell analysis, such as label transfer. To encourage the use of Stochastic Block Models, we developed a python library, , that is compatible with the popular framework.
An evolutionary genomics view on neuropeptide genes in Hydrozoa and Endocnidozoa (Myxozoa)
Authors: Koch Thomas L. , Hauser Frank , Grimmelikhuijzen Cornelis J. P. 
Published: November 2021

Abstract
Background
The animal phylum Cnidaria consists of six classes or subphyla: Hydrozoa, Scyphozoa, Cubozoa, Staurozoa, Anthozoa, and Endocnidozoa. Cnidarians have an early evolutionary origin, diverging before the emergence of the Bilateria. Extant members from this phylum, therefore, are important resources for understanding the evolution of the nervous system. Cnidarian nervous systems are strongly peptidergic. Using genomics, we have recently shown that three neuropeptide families (the X1PRX2amides, GRFamides, and GLWamides) are wide-spread in four (Scyphozoa, Cubozoa, Staurozoa, Anthozoa) out of six cnidarian classes or subphyla, suggesting that these three neuropeptide families emerged in the common cnidarian ancestor. In the current paper, we analyze the remaining cnidarian class, Hydrozoa, and the subphylum Endocnidozoa, to make firm conclusions about the evolution of neuropeptide genes in Cnidaria.

Results
We analyzed sixteen hydrozoan species with a sequenced genome or transcriptome, using a recently developed software program for discovering neuropeptide genes. These species belonged to various hydrozoan subclasses and orders, among them the laboratory models Hydra, Hydractinia, and Clytia. We found that each species contained three to five neuropeptide families. A common feature for all hydrozoans was that they contained genes coding for (i) X1PRX2amide peptides, (ii) GRFamide peptides, and (iii) GLWamide peptides. These results support our previous conclusions that these three neuropeptide families evolved early in evolution. In addition to these three neuropeptide families, hydrozoans expressed up to two other neuropeptide gene families, which, however, were only occurring in certain animal groups. Endocnidozoa (Myxozoa) are microscopically small endoparasites, which are strongly reduced. For long, it was unknown to which phylum these parasites belonged, but recently they have been associated with cnidarians. We analyzed nine endocnidozoan species and found that two of them (Polypodium hydriforme and Buddenbrockia plumatellae) expressed neuropeptide genes. These genes coded for neuropeptides belonging to the GRFamide and GLWamide families with structures closely resembling them from hydrozoans.

Conclusions
We found X1PRX2amide, GRFamide, and GLWamide peptides in all species belonging to the Hydrozoa, confirming that these peptides originated in the common cnidarian ancestor. In addition, we discovered GRFamide and GLWamide peptide genes in some members of the Endocnidozoa, thereby linking these parasites to Hydrozoa.
The absolute and relative changes in high-sensitivity cardiac troponin I are associated with the in-hospital mortality of patients with fulminant myocarditis
Authors: Liu Chao , Wang Zhongqin , Chen Kengquan , Cui Guanglin , Chen Chen , Wang Luyun , Jiang Jiangang 
Published: November 2021

Abstract
Background
We sought to describe the tendency and extent of high-sensitivity cardiac troponin I (hs-cTnI) changes in patients with fulminant myocarditis (FM) after admission and to explore the relationship between the in-hospital mortality of FM and the absolute and relative changes in hs-cTnI within 24 h and 48 h after admission.

Methods
In the retrospective study, the object are patients diagnosed with FM in our single centre. The value of cardiac troponin was recorded after patients admitted to hospital in succession. The absolute and relative changes in hs-cTnI within 24 h and 48 h were described as range distributions. Receiver operating characteristic (ROC) curve and Cox analyses were performed to determine the relationship between in-hospital mortality of FM and hs-cTnI changes.

Results
A total of 83 FM patients admitted to our centre from January 1, 2010 to December 31, 2019 were included; 69 patients survived and 14 patients died. In the survival group, 78% of patients experienced a decline in hs-cTnI within 24 h, while 36% of the mortality group exhibited a declining tendency in hs-cTnI (P = 0.003). Nearly 60% of survival group had a 0–2000 ng/l reduction in troponin from baseline within 24 h of admission. However, troponin levels of 50% of patients in the mortality group were 0–10,000 ng/ L higher than baseline 24 h after admission. Multivariable logistic analysis revealed that the declining tendency of hs-cTnI within 24 h, in addition to time from onset to admittance to hospital, intravenous immunoglobulin treatment and the abnormal level of creatinine, were associated with the in-hospital mortality of FM (for the declining tendency of hs-cTnI within 24 h, OR = 0.10, 95% CI 0.02–0.68, P = 0.018). The ROC curve revealed optimal cut-off values of − 618 ng/l for absolute change within 24 h (AUC = 0.800, P < 0.01), − 4389 ng/l for absolute change within 48 h (area under the curve = 0.711, P < 0.01), − 28.46% for relative change within 24 h (AUC = 0.810, P < 0.01), and − 52.23% for relative change within 48 h (AUC = 0.795, P < 0.01). Absolute changes and relative changes in hs-cTnI within 24 h and 48 h were strong predictors of in-hospital mortality by Cox regression analysis after adjustment for sex, time from onset to admission, and occurrence of ventricular tachycardia or ventricular fibrillation.

Conclusion
Most FM patients who survived experienced a decline in hs-cTnI within 24 h. The absolute and relative changes in hs-cTnI within 24 h and 48 h were strong predictors of in-hospital mortality.
U-shaped relationship between platelet–lymphocyte ratio and postoperative in-hospital mortality in patients with type A acute aortic dissection
Authors: Xie Xi , Fu Xiangjie , Zhang Yawen , Huang Wanting , Huang Lingjin , Deng Ying , Yan Danyang , Yao Run , Li Ning 
Published: November 2021

AbstractBackgroundThe platelet-lymphocyte ratio (PLR), a novel inflammatory marker, is generally associated with increased in-hospital mortality risk. We aimed to investigate the association between PLR and postoperative in-hospital mortality risk in patients with type A acute aortic dissection (AAAD).MethodsPatients (n = 270) who underwent emergency surgery for AAAD at Xiangya Hospital of Central South University between January 2014 and May 2019 were divided into three PLR-based tertiles. We used multiple regression analyses to evaluate the independent effect of PLR on in-hospital mortality, and smooth curve fitting and a segmented regression model with adjustment of confounding factors to analyze the threshold effect between PLR and in-hospital mortality risk.ResultsThe overall postoperative in-hospital mortality was 13.33%. After adjusting for confounders, in-hospital mortality risk in the medium PLR tertile was the lowest (Odds ratio [OR] = 0.20, 95% confidence interval [CI] = 0.06–0.66). We observed a U-shaped relationship between PLR and in-hospital mortality risk after smoothing spline fitting was applied. When PLR < 108, the in-hospital mortality risk increased by 10% per unit decrease in PLR (OR = 0.90,P = 0.001). When the PLR was between 108 and 188, the mortality risk was the lowest (OR = 1.02,P = 0.288). When PLR > 188, the in-hospital mortality risk increased by 6% per unit increase in PLR (OR = 1.06,P = 0.045).ConclusionsThere was a U-shaped relationship between PLR and in-hospital mortality in patients with AAAD, with an optimal PLR range for the lowest in-hospital mortality risk of 108–188. PLR may be a useful preoperative prognostic tool for predicting in-hospital mortality risk in patients with AAAD and can ensure risk stratification and early treatment initiation.
A tick bite patient with fever and meningitis co-infected with Rickettsia raoultii and Tacheng tick virus 1: a case report
Authors: Zhang Yu , Jiang Liang , Yang Yicheng , Xie Songsong , Yuan Wumei , Wang Yuanzhi 
Published: November 2021

Abstract
Background
Increasing numbers of tick-borne pathogens are being discovered, including those that infect humans. However, reports on co-infections caused by two or more tick-borne pathogens are scarce.

Case presentation
A 38-year-old male farmer was bitten by a hard tick, presented with fever (37.7 °C), severe headache and ejection vomiting. Lumbar puncture was performed in the lateral decubitus. The cerebrospinal fluid (CSF) was clear, and analysis showed severe increased pressure (320 mm H2O), mild leukocytosis (126.0 × 106/L, mononuclear cells accounting for 73%) and elevated total protein concentration (0.92 g/L). Bacterial cultures of CSF and blood were negative. The diagnosis of Rickettsia raoultii and Tacheng tick virus 1 (TcTV-1) co-infection was confirmed by amplifying four rickettsial genetic markers and the partial small (S) RNA segment of TcTV-1 from the patient’s blood. The patient gradually recovered after treatment with levofloxacin and ribavirin.

Conclusions
This is the first reported co-infection case with fever and meningitis caused by R. raoultii and TcTV-1. It is vital to screen for multiple pathogens in tick-bitten patients, especially in those with severe complex symptoms.
Spinal subarachnoid haemorrhage secondary to spinal rheumatoid vasculitis: a case report
Authors: Xiao Yeqing , Yang Jie , Xia Jian , Liu Yunhai , Huang Qing , Feng Jie 
Published: November 2021

Abstract
Introduction
Spinal subarachnoid haemorrhage is extremely rare in cases of subarachnoid haemorrhage and possesses servere characteristics. Additionally, spinal rheumatoid vasculitis is rare for spinal subarachnoid haemorrhage. The pathogenesis is unknown.

Case presentation
A 52-year-old woman with a 10-year history of seropositive rheumatoid arthritis was managed with leflunomide and celecoxib, and stable low disease activity was achieved. The patient had also been diagnosed with spinal subarachnoid haemorrhage secondary to isolated spinal rheumatoid vasculitis and obtained good therapeutic effects.

Conclusion
This is the first case to describe spinal subarachnoid haemorrhage secondary to isolated spinal vasculitis in a patient with rheumatoid arthritis, which provides more proof of anomalous neovascularization in the central nervous system in rheumatoid arthritis.
Subjective global assessment of malnutrition and dysphagia effect on the clinical and Para-clinical outcomes in elderly ischemic stroke patients: a community-based study
Authors: Mahmoudinezhad Mahsa , Khalili Mohammad , Rezaeemanesh Nasim , Farhoudi Mehdi , Eskandarieh Sharareh 
Published: November 2021

Abstract
Background
Malnutrition as a result of insufficient intake or uptake of nutrition leads to increasing rate of chronic diseases such as stroke. Stroke is one of the most common causes of death in western countries and its increasing trend has attracted lots of attention. In this regard, it seems logical to focus on modifiable risk factors such as nutrition, in order to reduce the resulting complications. Accordingly, this study aimed at evaluating nutrition status of stroke patients to estimate its relationship with clinical outcomes of stroke.

Methods
In the present cross-sectional study, 349 patients were recruited. Nutrition assessment was performed using Patient-Generated Subjective Global Assessment (PG-SGA). In addition, National Institutes of Health Stroke Scale (NIHSS), modified Rankin Scale (mRS), and biochemical tests were performed.

Results
Our findings elucidated a significant positive correlation of mRS with PG-SGA and consciousness score, as well as a negative correlation with BMI, calf circumference, mid-arm circumference, and triceps skinfold at admission time (P ≤ 0.002). Moreover, a direct correlation was found between mRS and PG-SGA and consciousness score at discharge time (P ≤ 0.001). In contrast, an inverse correlation was established between mRS and mid-arm circumference (P = 0.02). Furthermore, univariate analysis indicated significant associations between mRS ≥ 3 and age (OR: 1.02; 95%CI: 1.00–1.04), PG-SGA (OR: 1.08; 95%CI: 1.03–1.13), NIHSS (OR: 1.04; 95%CI: 1.02–1.07), dysphagia (OR: 1.69; 95%CI: 1.03–2.77), consciousness (OR: 1.48; 95%CI: 1.07–2.04), and mid-arm circumference (OR: 0.95; 95%CI: 0.90–1.00). In addition, these associations remained significant in multivariate analysis for PG-SGA (OR: 1.07; 95%CI: 1.00–1.13) and NIHSS (OR: 1.04; 95%CI: 1.01–1.07).

Conclusion
This study revealed a positive correlation between mRS and consciousness status and PG-SGA score, as well as a negative one between mRS and MAC at discharge time.
Prevalence and associated factors of caesarian section in Ethiopia: a multilevel analysis of the 2019 Ethiopia Mini Demographic Health Survey
Authors: Hailegebreal Samuel , Gilano Girma , Seboka Binyam Tariku , Ahmed Mohammedjud Hassen , Simegn Atsedu Endale , Tesfa Getanew Aschalew , Yehualashet Delelegn Emwodew 
Published: November 2021

Abstract
Background
Caesarian section is a vital emergency obstetric intervention for saving the lives of mothers and newborns. However, factors which are responsible for caesarian section (CS) were not well established in the country level data. Therefore, this study aimed to assess the prevalence and associated factors of caesarian section in Ethiopia.

Methods
Data from the Ethiopian Mini Demographic and Health survey 2019 were used to identify factors associated with the caesarian section in Ethiopia. We applied multi-level logistic regression and a p-value of <0.25 to include variables before modeling and a p-value<0.05 with 95% confidence interval (CI) for final results.

Result
The prevalence of caesarian section in Ethiopia was 5.44% (95% CI; 0.048-0.06) in2019. Women in age group of 30-39 and 40-49 years had a higher odd of caesarian section (AOR = 2.14, 95%CI = 1.55-2.94) and (AOR = 2, 95%CI = 1.20-3.97) respectively compared to women in age group of 15-29 years. Women with secondary and higher educational level had higher odds of caesarian section (AOR = 2.15, 95%CI = 1.38-3.34) and (AOR = 2.8, 95%CI = 1.73-4.53) compared to those in no education category. Compared to Orthodox, Muslims and Protestant religions had lower odds of caesarian section with AOR of 0.50 (0.34-0.73) and 0.53 (0.34-0.85). Having <2 births was also associated with the low caesarian section 0.61(0.52-1.22). Using modern contraceptive methods, having ANC visits of 1-3, 4th, 5 plus, and urban residence were associated with higher odds of caesarian section as 1.4 (1.05-1.80]), 2.2 (1.51-3.12), 1.7 (1.12-2.46), and 2.4 (1.65-3.44) 1.6(1.04-2.57) respectively.

Conclusion
Although evidence indicates that the caesarian deliveries increased both in developed and underdeveloped countries, the current magnitude of this service was very low in Ethiopia which might indicate missing opportunities that might costing lives of mothers and newborns. Women’s age, religion, educational status, parity, contraceptive method, and ANC visit were individual level factors influenced caesarian section. whereas, region and place of residence were community level factors affected caesarian section in the country. Depending on these factors, the country needs policy decisions for further national level interventions.
Primary breast lymphoma of childhood: a case report and review of literature
Authors: Restivo Giulia A. , Pillon Marta , Mussolin Lara , Mosa Clara , Guarina Angela , Trizzino Angela , Ialuna Salvatore , Carraro Elisa , D’Amore Emanuele S.G. , Russo Giovanna , Elia Caterina , Mascarin Maurizio , Zangara Adriana , D’Angelo Paolo , Farruggia Piero 
Published: November 2021

Abstract
Background
Primary breast lymphoma (PBL) is an extremely rare neoplasm in children; by definition, it manifests in the breast without evidence of lymphoma elsewhere, except ipsilateral axillary nodes.

Case presentation
We report a case of a 15-year-old girl diagnosed with diffuse large B-cell lymphoma (DLBCL) of the right breast: the patient received chemotherapy and rituximab, achieving complete remission. A literature review revealed other 11 cases of pediatric PBL; it mainly affects female adolescents and can involve right and left breast equally. Different histologic subtypes have been described, arising from both B-cell and T-cell. Therapeutic approaches were very different, from chemotherapy to local treatment with surgery and/or radiotherapy.

Conclusions
Our case is the first in which rituximab was administered, suggesting to be a promising therapy in B-cell PBL, as already demonstrated in pediatric B-cell lymphoma from other sites. Further investigations are needed to identify prognostic factors and establish the most effective treatment.