bluuebunny/crossref_metadata_2025_split huggingface dataset:
TRACK-CF prospective cohort study: Understanding early cystic fibrosis lung disease
Authors: Steinke Eva , Sommerburg Olaf , Graeber Simon Y. , Joachim Cornelia , Labitzke Christiane , Nissen Gyde , Ricklefs Isabell , Rudolf Isa , Kopp Matthias V. , Dittrich Anna-Maria , Mall Marcus A. , Stahl Mirjam 
Published: January 2023

BackgroundLung disease as major cause for morbidity in patients with cystic fibrosis (CF) starts early in life. Its large phenotypic heterogeneity is partially explained by the genotype but other contributing factors are not well delineated. The close relationship between mucus, inflammation and infection, drives morpho-functional alterations already early in pediatric CF disease, The TRACK-CF cohort has been established to gain insight to disease onset and progression, assessed by lung function testing and imaging to capture morpho-functional changes and to associate these with risk and protective factors, which contribute to the variation of the CF lung disease progression.Methods and designTRACK-CF is a prospective, longitudinal, observational cohort study following patients with CF from newborn screening or clinical diagnosis throughout childhood. The study protocol includes monthly telephone interviews, quarterly visits with microbiological sampling and multiple-breath washout and as well as a yearly chest magnetic resonance imaging. A parallel biobank has been set up to enable the translation from the deeply phenotyped cohort to the validation of relevant biomarkers. The main goal is to determine influencing factors by the combined analysis of clinical information and biomaterials. Primary endpoints are the lung clearance index by multiple breath washout and semi-quantitative magnetic resonance imaging scores. The frequency of pulmonary exacerbations, infection with pro-inflammatory pathogens and anthropometric data are defined as secondary endpoints.DiscussionThis extensive cohort includes children after diagnosis with comprehensive monitoring throughout childhood. The unique composition and the use of validated, sensitive methods with the attached biobank bears the potential to decisively advance the understanding of early CF lung disease.Ethics and trial registrationThe study protocol was approved by the Ethics Committees of the University of Heidelberg (approval S-211/2011) and each participating site and is registered at clinicaltrials.gov (NCT02270476).
A culture-, amplification-independent, and rapid method for identification of pathogens and antibiotic resistance profile in bovine mastitis milk
Authors: Ahmadi Asal , Khezri Abdolrahman , Nørstebø Håvard , Ahmad Rafi 
Published: January 2023

IntroductionRapid and accurate diagnosis of causative pathogens in mastitis would minimize the imprudent use of antibiotics and, therefore, reduce the spread of antimicrobial resistance. Whole genome sequencing offers a unique opportunity to study the microbial community and antimicrobial resistance (AMR) in mastitis. However, the complexity of milk samples and the presence of a high amount of host DNA in milk from infected udders often make this very challenging.MethodsHere, we tested 24 bovine milk samples (18 mastitis and six non-mastitis) using four different commercial kits (Qiagens’ DNeasy® PowerFood® Microbial, Norgens’ Milk Bacterial DNA Isolation, and Molzyms’ MolYsis™ Plus and Complete5) in combination with filtration, low-speed centrifugation, nuclease, and 10% bile extract of male bovine (Ox bile). Isolated DNA was quantified, checked for the presence/absence of host and pathogen using PCR and sequenced using MinION nanopore sequencing. Bioinformatics analysis was performed for taxonomic classification and antimicrobial resistance gene detection.ResultsThe results showed that kits designed explicitly for bacterial DNA isolation from food and dairy matrices could not deplete/minimize host DNA. Following using MolYsis™ Complete 5 + 10% Ox bile + micrococcal nuclease combination, on average, 17% and 66.5% of reads were classified as bovine and Staphylococcus aureus reads, respectively. This combination also effectively enriched other mastitis pathogens, including Escherichia coli and Streptococcus dysgalactiae. Furthermore, using this approach, we identified important AMR genes such as Tet (A), Tet (38), fosB-Saur, and blaZ. We showed that even 40 min of the MinION run was enough for bacterial identification and detecting the first AMR gene.ConclusionWe implemented an effective method (sensitivity of 100% and specificity of 92.3%) for host DNA removal and bacterial DNA enrichment (both gram-negative and positive) directly from bovine mastitis milk. To the best of our knowledge, this is the first culture- and amplification-independent study using nanopore-based metagenomic sequencing for real-time detection of the pathogen (within 5 hours) and the AMR profile (within 5–9 hours), in mastitis milk samples. These results provide a promising and potential future on-farm adaptable approach for better clinical management of mastitis.
Evaluation of AQP4 functional variants and its association with fragile X-associated tremor/ataxia syndrome
Authors: Elias-Mas Andrea , Potrony Miriam , Bague Jaume , Cutler David J. , Alvarez-Mora Maria Isabel , Torres Teresa , Barcos Tamara , Puig-Butille Joan Anton , Rubio Marta , Madrigal Irene , Puig Susana , Allen Emily G. , Rodriguez-Revenga Laia 
Published: January 2023

IntroductionFragile X-associated tremor/ataxia syndrome (FXTAS, OMIM# 300623) is a late-onset neurodegenerative disorder with reduced penetrance that appears in adult FMR1 premutation carriers (55–200 CGGs). Clinical symptoms in FXTAS patients usually begin with an action tremor. After that, different findings including ataxia, and more variably, loss of sensation in the distal lower extremities and autonomic dysfunction, may occur, and gradually progress. Cognitive deficits are also observed, and include memory problems and executive function deficits, with a gradual progression to dementia in some individuals. Aquaporin 4 (AQP4) is a commonly distributed water channel in astrocytes of the central nervous system. Changes in AQP4 activity and expression have been implicated in several central nervous system disorders. Previous studies have suggested the associations of AQP4 single nucleotide polymorphisms (SNPs) with brain-water homeostasis, and neurodegeneration disease. To date, this association has not been studied in FXTAS.MethodsTo investigate the association of AQP4 SNPs with the risk of presenting FXTAS, a total of seven common AQP4 SNPs were selected and genotyped in 95 FMR1 premutation carriers with FXTAS and in 65 FMR1 premutation carriers without FXTAS.ResultsThe frequency of AQP4-haplotype was compared between groups, denoting 26 heterozygous individuals and 5 homozygotes as carriers of the minor allele in the FXTAS group and 25 heterozygous and 2 homozygotes in the no-FXTAS group. Statistical analyses showed no significant associations between AQP4 SNPs/haplotypes and development of FXTAS.DiscussionAlthough AQP4 has been implicated in a wide range of brain disorders, its involvement in FXTAS remains unclear. The identification of novel genetic markers predisposing to FXTAS or modulating disease progression is critical for future research involving predictors and treatments.
Language reorganization patterns in global aphasia–evidence from fNIRS
Authors: Li Haozheng , Liu Jianju , Tian Shan , Fan Shunjuan , Wang Tingwei , Qian Hong , Liu Gang , Zhu Yulian , Wu Yi , Hu Ruiping 
Published: January 2023

BackgroundExploring the brain reorganization patterns associated with language recovery would promote the treatment of global aphasia. While functional near-infrared spectroscopy (fNIRS) has been widely used in the study of speech and language impairment, its application in the field of global aphasia is still limited.AimsWe aimed to identify cortical activation patterns of patients with global aphasia during naming and repetition tasks.Methods and proceduresWe recruited patients with post-stroke aphasia from the Department of Rehabilitation Medicine at Huashan Hospital. These individuals were diagnosed with global aphasia without cognitive impairments, as assessed by speech-language pathology evaluations. Age- and sex-matched healthy controls were recruited from the greater Shanghai area. During fNIRS measurement, patients and healthy controls completed the picture-naming and phrase repetition task. Cortical activation patterns on each of these language tasks were then compared between groups.Outcomes and resultsA total of nine patients with global aphasia and 14 healthy controls were included in this study. Compared with the healthy subjects, patients with global aphasia showed increased activation in the left Broca's area, middle temporal gyrus (MTG), superior temporal gyrus (STG), and pre-motor and supplementary motor cortex (SMA) (p &lt; 0.05) in the picture-naming task. Furthermore, the latency of the oxyhemoglobin (HbO) concentration in the left supramarginal gyrus (SMG) region had a strong negative correlation with their score of the naming task (p &lt; 0.01). In the phrase repetition task, decreased activation was detected in the left SMA and SMG (p &lt; 0.05) of patients relative to controls.ConclusionThe left SMG plays a critical role in the language function of patients with global aphasia, especially in their abilities to name and repeat. fNIRS is a promising approach to revealing the changes in brain activities in patients with aphasia, and we believe it will contribute to a deeper understanding of the neurological mechanisms and the establishment of a novel treatment approach for global aphasia.
Mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes with an MT-TL1 m.3243A>G point mutation: Neuroradiological features and their implications for underlying pathogenesis
Authors: Zheng Helin , Zhang Xuemei , Tian Lu , Liu Bo , He Xiaoya , Wang Longlun , Ding Shuang , Guo Yi , Cai Jinhua 
Published: January 2023

ObjectiveMitochondrial encephalomyopathy with lactic acidosis and stroke−like episodes (MELAS) is one of the most common inherited mitochondrial disorders. Due to the high clinical and genetic heterogeneity of MELAS, it is still a major challenge for clinicians to accurately diagnose the disease at an early stage. Herein, we evaluated the neuroimaging findings of MELAS with an m.3243A&gt;G mutation in MT−TL1 and analyzed the possible underlying pathogenesis of stroke-like episodes.Materials and methodsFifty-nine imaging studies in 24 patients who had a confirmed genetic diagnosis of m.3243A&gt;G (MT-TL1; tRNALeu) associated with MELAS were reviewed in our case series. The anatomic location, morphological features, signal/intensity characteristics and temporal evolution of lesions were analyzed on magnetic resonance imaging (MRI), and computed tomography (CT) images. The supplying vessels and metabolite content of the lesions were also evaluated by using MR angiography (MRA)/CT angiography (CTA), and MR spectroscopy (MRS), respectively.ResultsThe lesions were most commonly located in the posterior brain, with 37 (37/59, 63%) in the occipital lobe, 32 (32/59, 54%) in the parietal lobe, and 30 (30/59, 51%) in the temporal lobe. The signal characteristics of the lesions varied and evolved over time. Bilateral basal ganglia calcifications were found in 6 of 9 (67%) patients who underwent CT. Cerebral and cerebellar atrophy were found in 38/59 (64%) and 40/59 (68%) patients, respectively. Lesion polymorphism was found in 37/59 (63%) studies. MRS showed elevated lactate doublet peaks in 9/10 (90%) cases. MRA or CTA revealed that the lesion-related arteries were slightly dilated compared with those of the contralateral side in 4 of 6 (67%) cases.ConclusionThe imaging features of MELAS vary depending on the disease stage. Polymorphic lesions in a single imaging examination should be considered a diagnostic clue for MELAS. Stroke-like episodes may be involved in a complex pathogenetic process, including mitochondrial angiopathy, mitochondrial cytopathy, and neuronal excitotoxicity.
Alterations in brain structure and function associated with pediatric growth hormone deficiency: A multi-modal magnetic resonance imaging study
Authors: Zhou Zhibo , Luo Yunyun , Gao Xiaoxing , Zhu Yanlin , Bai Xi , Yang Hongbo , Bi Qiuhui , Chen Shi , Duan Lian , Wang Linjie , Gong Fengying , Feng Feng , Gong Gaolang , Zhu Huijuan , Pan Hui 
Published: January 2023

IntroductionPediatric growth hormone deficiency (GHD) is a disease resulting from impaired growth hormone/insulin-like growth factor-1 (IGF-1) axis but the effects of GHD on children’s cognitive function, brain structure and brain function were not yet fully illustrated.MethodsFull Wechsler Intelligence Scales for Children, structural imaging, diffusion tensor imaging, and resting-state functional magnetic resonance imaging were assessed in 11 children with GHD and 10 matched healthy controls.Results(1) The GHD group showed moderate cognitive impairment, and a positive correlation existed between IGF-1 levels and cognitive indices. (2) Mean diffusivity was significantly increased in both corticospinal tracts in GHD group. (3) There were significant positive correlations between IGF-1 levels and volume metrics of left thalamus, left pallidum and right putamen but a negative correlation between IGF-1 levels and cortical thickness of the occipital lobe. And IGF-1 levels negatively correlated with fractional anisotropy in the superior longitudinal fasciculus and right corticospinal tract. (4) Regional homogeneity (ReHo) in the left hippocampus/parahippocampal gyrus was negatively correlated with IGF-1 levels; the amplitude of low-frequency fluctuation (ALFF) and ReHo in the paracentral lobe, postcentral gyrus and precentral gyrus were also negatively correlated with IGF-1 levels, in which region ALFF fully mediates the effect of IGF-1 on working memory index.ConclusionMultiple subcortical, cortical structures, and regional neural activities might be influenced by serum IGF-1 levels. Thereinto, ALFF in the paracentral lobe, postcentral gyrus and precentral gyrus fully mediates the effect of IGF-1 on the working memory index.
Multitasking dynamic contrast enhanced magnetic resonance imaging can accurately differentiate chronic pancreatitis from pancreatic ductal adenocarcinoma
Authors: Wang Nan , Gaddam Srinivas , Xie Yibin , Christodoulou Anthony G. , Wu Chaowei , Ma Sen , Fan Zhaoyang , Wang Lixia , Lo Simon , Hendifar Andrew E. , Pandol Stephen J. , Li Debiao 
Published: January 2023

Background and aimsAccurate differentiation of chronic pancreatitis (CP) and pancreatic ductal adenocarcinoma (PDAC) is an area of unmet clinical need. In this study, a novel Multitasking dynamic contrast enhanced (DCE) magnetic resonance imaging (MRI) technique was used to quantitatively evaluate the microcirculation properties of pancreas in CP and PDAC and differentiate between them.MethodsThe Multitasking DCE technique was able to acquire one 3D image per second during the passage of MRI contrast agent, allowing the quantitative estimation of microcirculation properties of tissue, including blood flow Fp, plasma volume fraction vp, transfer constant Ktrans, and extravascular extracellular volume fraction ve. Receiver operating characteristic (ROC) analysis was performed to differentiate the CP pancreas, PDAC pancreas, normal control pancreas, PDAC tumor, PDAC upstream, and PDAC downstream. ROCs from quantitative analysis and conventional analysis were compared.ResultsFourteen PDAC patients, 8 CP patients and 20 healthy subjects were prospectively recruited. The combination of Fp, vp, Ktrans, and ve can differentiate CP versus PDAC pancreas with good AUC (AUC [95% CI] = 0.821 [0.654 – 0.988]), CP versus normal pancreas with excellent AUC (1.000 [1.000 – 1.000]), PDAC pancreas versus normal pancreas with excellent AUC (1.000 [1.000 – 1.000]), CP versus PDAC tumor with excellent AUC (1.000 [1.000 – 1.000]), CP versus PDAC downstream with excellent AUC (0.917 [0.795 – 1.000]), and CP versus PDAC upstream with fair AUC (0.722 [0.465 – 0.980]). This quantitative analysis outperformed conventional analysis in differentiation of each pair.ConclusionMultitasking DCE MRI is a promising clinical tool that is capable of unbiased quantitative differentiation between CP from PDAC.
Inhibition of RNF182 mediated by Bap promotes non-small cell lung cancer progression
Authors: Liu Yating , Ouyang Lianlian , Mao Chao , Chen Yuanbing , Liu Na , Chen Ling , Shi Ying , Xiao Desheng , Liu Shuang , Tao Yongguang 
Published: January 2023

IntroductionUbiquitylation that mediated by ubiquitin ligases plays multiple roles not only in proteasome-mediated protein degradation but also in various cellular process including DNA repair, signal transduction and endocytosis. RING finger (RNF) proteins form the majority of these ubiquitin ligases. Recent studies have demonstrated the important roles of RNF finger proteins in tumorigenesis and tumor progression. Benzo[a]pyrene (BaP) is one of the most common environmental carcinogens causing lung cancer. The molecular mechanism of Bap carcinogenesis remains elusive. Considering the critical roles of RNF proteins in tumorigenesis and tumor progression, we speculate on whether Bap regulates RNF proteins resulting in carcinogenesis.MethodsWe used GEO analysis to identify the potential RING finger protein family member that contributes to Bap-induced NSCLC. We next used RT-qPCR, Western blot and ChIP assay to investigate the potential mechanism of Bap inhibits RNF182. BGS analyses were used to analyze the methylation level of RNF182.ResultsHere we reported that the carcinogen Bap suppresses the expression of ring finger protein 182 (RNF182) in non-small cell lung cancer (NSCLC) cells, which is mediated by abnormal hypermethylation in an AhR independent way and transcriptional regulation in an AhR dependent way. Furthermore, RNF182 exhibits low expression and hypermethylation in tumor tissues. RNF182 also significantly suppresses cell proliferation and induces cell cycle arrest in NSCLC cell lines.ConclusionThese results demonstrated that Bap inhibits RNF182 expression to promote lung cancer tumorigenesis through activating AhR and promoting abnormal methylation.
Diagnostic value of multiple ultrasound diagnostic techniques for axillary lymph node metastases in breast cancer: A systematic analysis and network meta-analysis
Authors: Li Jun , Wang Si-Rui , Li Qiao-Li , Zhu Tong , Zhu Pei-Shan , Chen Ming , Cui Xin-Wu 
Published: January 2023

BackgroundEarly diagnosis of axillary lymph node metastasis is very important for the recurrence and prognosis of breast cancer. Currently, Lymph node biopsy is one of the important methods to detect lymph node metastasis in breast cancer, however, its invasiveness might bring complications to patients. Therefore, this study investigated the diagnostic performance of multiple ultrasound diagnostic methods for axillary lymph node metastasis of breast cancer.Materials and methodsIn this study, we searched PubMed, Web of Science, CNKI and Wan Fang databases, conducted Bayesian network meta-analysis (NMA) on the studies that met the inclusion criteria, and evaluated the consistency of five different ultrasound imaging techniques in axillary lymph node metastasis of breast cancer. Funnel graph was used to evaluate whether it had publication bias. The diagnostic performance of each ultrasound imaging method was ranked using SUCRAResultsA total of 22 papers were included, US+CEUS showed the highest SUCRA values in terms of sensitivity (SEN) (0.874), specificity (SPE) (0.911), positive predictive value (PPV) (0.972), negative predictive value (NPV) (0.872) and accuracy (ACC) (0.990).ConclusionIn axillary lymph node metastasis of breast cancer, the US+CEUS combined diagnostic method showed the highest SUCRA value among the five ultrasound diagnostic methods. This study provides a theoretical basis for preoperative noninvasive evaluation of axillary lymph node metastases in breast cancer patients and clinical treatment decisions.Systematic review registrationhttps://www.crd.york.ac.uk/PROSPERO/, identifier CRD42022351977.
Comparison of clinical features and prognosis between ultrashort-segment and short-segment hirschsprung disease
Authors: Xie Chuanping , Yan Jiayu , Guo Jianlin , Liu Yakun , Chen Yajun 
Published: January 2023

ObjectiveTo compare the differences in clinical features, postoperative complications, and long-term bowel function outcomes of ultrashort-segment Hirschsprung disease (USHD) and short-segment Hirschsprung disease (SHD).MethodsA retrospective study was conducted to compare patients with USHD or SHD who underwent transanal endorectal pull-through (TEPT) at Beijing Children's Hospital between January 2014 and June 2021. Clinical details were collected from medical records. A long-term bowel function questionnaire (age &gt; 4 years old) was completed by the patients' parents.ResultsA total of 84 patients (USHD = 15, SHD = 69) were included. Age at diagnosis and radical surgery in the USHD group were significantly older than the SHD group (46 [38, 66] vs. 34 [6, 55] months, p = 0.002; 51 [39, 68] vs. 37 [10, 68] months, p = 0.001, respectively). Compared with the SHD group, patients with USHD are more likely to suffer anastomosis leakage and postoperative enterocolitis after TEPT ([3/15, 33.3%] vs. [1/69, 1.4%], p = 0.017; [5/15, 33.3%] vs. [6/69, 8.7%], p = 0.023). In addition, patients in the USHD group are inclined to suffer lower bowel function scores (12.0 [7.5, 18.3] vs. 17 [15, 19], p = 0.018).Patients in the USHD group were more likely to suffer poorer ability to hold back defecation (p = 0.023), soiling (p = 0.011), fecal accidents (p = 0.004), and social problems (p = 0.004).ConclusionCompared with patients with SHD, patients with USHD are diagnosed and performed TEPT at an older age. and they are inclined to suffer postoperative enterocolitis, anastomosis leakage, and poorer long-term bowel function following TEPT.
Severe pediatric Mycoplasma pneumonia as the cause of diffuse alveolar hemorrhage requiring veno-venous extracorporeal membrane oxygenation: A case report
Authors: Zhang Xinjuan , Yu Yanping 
Published: January 2023

BackgroundDiffuse alveolar hemorrhage (DAH) is an acute life-threatening disease often associated with immunocompromised patients and systemic disorders, such as infections, vasculitis, and toxins. Mycoplasma pneumoniae is one of the most common causes of community-acquired pneumonia in children, which rarely causes respiratory failure and fulminant disease; However, a rapid progression may occur in some patients. Mycoplasma pneumonia-associated DAH is rare.Case PresentationWe report a case of severe pediatric mycoplasma pneumonia in an immuno-competent child. This patient's condition progressed rapidly, with severe lung lesions associated with pleural effusion, coagulopathy, diffuse alveolar haemorrhage and severe respiratory distress requiring ventilator and intravenous extracorporeal membrane oxygenation (VV-ECMO) support. She was discharged upon successful treatment.ConclusionDiffuse alveolar hemorrhage associated with Mycoplasma pneumoniae in children is very rare, and clinicians should be aware of the potential rapid onset of the disease. Early detection and diagnosis are very important. The main treatment measures include anti-infection and supportive measures such as mechanical ventilation, but as in our case, success with both prone positioning for more than 10 h per day and VV-ECMO was life-saving.