bluuebunny/crossref_metadata_2025_split huggingface dataset:
Natural history of Krabbe disease – a nationwide study in Germany using clinical and MRI data
Authors: Krieg Sarah Isabel , Krägeloh-Mann Ingeborg , Groeschel Samuel , Beck-Wödl Stefanie , Husain Ralf A. , Schöls Ludger , Kehrer Christiane 
Published: September 2020

Abstract
Background
Krabbe disease or globoid cell leukodystrophy is a severe neurodegenerative disorder caused by a defect in the GALC gene leading to a deficiency of the enzyme ß-galactocerebrosidase. The aim of this work was to describe the natural disease course covering the whole spectrum of the disease.

Methods
Natural history data were collected with a standardized questionnaire, supplemented by medical record data. We defined different forms of the disease according to Abdelhalim et al. (2014). Developmental and disease trajectories were described based on the acquisition and loss of milestones as well as the time of first clearly identifiable symptoms and needs such as spasticity, seizures and tube feeding. MRI was assessed using the scoring system by Loes et al. (1999) and in addition a pattern recognition approach, based on Abdelhalim et al. (2014).

Results
Thirty-eight patients were identified, from 27 of these patients 40 MRIs were available; 30 (79%) had an infantile onset, showing first symptoms in their first year of life, almost all (27 out of 30) starting in the first six months. A later onset after the first year of life was observed in 8 patients (21%, range 18 months to 60 years). Irritability, abnormalities in movement pattern as well as general developmental regression were the first symptoms in the infantile group; disease course was severe with rapid progression, e.g. loss of visual fixation, need for tube feeding and then an early death. Gait disorders were the first symptoms in all patients of the later onset groups; progression was variable. The different forms of the disease were characterized by different MRI patterns (infantile: diffuse white matter involvement and cerebellar structures specifically affected, later onset: parieto-occipital white matter and splenium affected, adult: motor tracts specifically affected).

Conclusion
This is the first description of the natural history of Krabbe disease in a larger European cohort using developmental, clinical and MRI data. We would like to highlight the very different clinical and MRI characteristics of the later onset forms. These data are important for counselling affected patients and families and may serve as a basis for future treatment trials.
Hidden scars: the impact of violence and the COVID-19 pandemic on children’s mental health
Authors: Maalla M’jid Najat 
Published: September 2020

AbstractMore than 1 billion children are exposed to violence every year. The devastating immediate and long-term impact of violence on the mental health of children is well established. Despite commitments made by the international community to end violence against children and support their mental health, there has been a serious lack of investment and capacity to provide quality, rights-based, culturally appropriate mental health care globally. The arrival of the COVID-19 pandemic has magnified these challenges. This article outlines how the risk of children experiencing violence has increased and how the pandemic has weakened the capacity of child protection and mental health services to respond. The article argues for child protection, mental health and other core services to be prioritized during and after the pandemic. A failure to do so will undermine the international community’s ability to achieve the Sustainable Development Goals by 2030 and to fulfil its obligations under the UN Convention on the Rights of the Child.
Machine intelligence for nerve conduit design and production
Authors: Stewart Caleb E. , Kan Chin Fung Kelvin , Stewart Brody R. , Sanicola Henry W. , Jung Jangwook P. , Sulaiman Olawale A. R. , Wang Dadong 
Published: September 2020

AbstractNerve guidance conduits (NGCs) have emerged from recent advances within tissue engineering as a promising alternative to autografts for peripheral nerve repair. NGCs are tubular structures with engineered biomaterials, which guide axonal regeneration from the injured proximal nerve to the distal stump. NGC design can synergistically combine multiple properties to enhance proliferation of stem and neuronal cells, improve nerve migration, attenuate inflammation and reduce scar tissue formation. The aim of most laboratories fabricating NGCs is the development of an automated process that incorporates patient-specific features and complex tissue blueprints (e.g. neurovascular conduit) that serve as the basis for more complicated muscular and skin grafts. One of the major limitations for tissue engineering is lack of guidance for generating tissue blueprints and the absence of streamlined manufacturing processes. With the rapid expansion of machine intelligence, high dimensional image analysis, and computational scaffold design, optimized tissue templates for 3D bioprinting (3DBP) are feasible. In this review, we examine the translational challenges to peripheral nerve regeneration and where machine intelligence can innovate bottlenecks in neural tissue engineering.
Cytogenomic characterization of three murine malignant mesothelioma tumor cell lines
Authors: Wahlbuhl Eva , Liehr Thomas , Rincic Martina , Azawi Shaymaa 
Published: September 2020

Abstract
Background
Malignant mesothelioma (MM) is a rare aggressive cancer primary located in pleura and lung. MMs can be divided into biphasic, epithelioid and sarcomatoid subtypes. In majority of cases MMs are induced by asbestos fiber exposure. As latency period after asbestos exposure ranges between ~ 10 and 60 years MMs are mainly observed in elder people. Human MM, being a rare tumor type, lacks detailed cytogenetic data, while molecular genetic studies have been undertaken more frequently. However, murine MM cell lines are also regularly applied to get more insight into MM biology and to test new therapy strategies.

Results
Here the murine MM cell lines AB1, AB22 and AC29 were studied by molecular cytogenetics and molecular karyotyping. Interestingly, yet there were no genetic or genomic studies undertaken for these already in 1992 established cell lines. The obtained data on genomic imbalances in these murine cell lines was translated into the human genome as previously reported based on human and murine genomic browsers.

Conclusions
It turned out that all three cell lines showed high similarities in copy number variants as observed typically in human MM. Also, all three cell lines were most similar to human epithelioid MMs, and should be used as models therefore.
The threat of reduced efficacy of anthelmintics against gastrointestinal nematodes in sheep from an area considered anthelmintic resistance-free
Authors: Bosco Antonio , Kießler Jan , Amadesi Alessandra , Varady Marian , Hinney Barbara , Ianniello Davide , Maurelli Maria Paola , Cringoli Giuseppe , Rinaldi Laura 
Published: September 2020

Abstract
Background
The worldwide increased difficulty to combat gastrointestinal nematode (GIN) infection in sheep, due to progressing anthelmintic resistance (AR), calls for an enhanced and standardized implementation of early detection of AR. This study provides a snapshot of the current AR status against benzimidazoles and macrocyclic lactones in southern Italy, generated with standardized techniques.

Methods
On 10 sheep farms, the efficacy of albendazole (ALB) and either eprinomectin (EPR) or ivermectin (IVM) was evaluated based on the faecal egg count reduction test (FECRT) performed with the Mini-FLOTAC. For each tested drug, 40 sheep were rectally sampled at D0 and sampled again 14 days after the treatment (D14). The FECRT was calculated from individual samples and pooled samples which consist of 5 individual samples. Efficacy was classified as ‘reduced, ‘suspected’ and ‘normal’. Coprocultures were set for D0 and D14 faecal samples of each group. From farms with FECR < 95%, an in vitro egg hatch test (EHT) and a follow-up FECRT using fenbendazole (FBZ) were conducted.

Results
Based on the FECR, high efficacy (from 95.7% to 100%) was observed for ALB and IVM in eight farms (Farms 3–10). On Farm 1 and Farm 2, the efficacy for the macrocyclic lactones was classified as ‘normal’, but ‘reduced’ efficacy was observed for ALB on Farm 1 (FECR = 75%) and ‘suspected’ efficacy on Farm 2 (FECR = 93.3%) with the predominant GIN genus Trichostrongylus followed by Haemonchus at D14. The FEC results of pooled samples strongly correlated with those of individual samples, for FEC at D0 (rs = 0.984; P < 0.0001) and at D14 (rs = 0.913; P < 0.0001). The classifications of efficacy in Farm 1 (FECR = 86.0%) and Farm 2 (FECR = 93.0%) in the follow-up FECRT with FBZ coincide with the main FECRT trial. The in vitro EHT confirmed AR in both farms (Farm 1: 89%; Farm 2: 74%).

Conclusions
In regions like southern Italy, where the negative impacts from AR have played a minor role, efficient monitoring of AR is important in order to evaluate potential risks and being able to promptly respond with countermeasures.
A polyclonal allelic expression assay for detecting regulatory effects of transcript variants
Authors: Brandt Margot , Gokden Alper , Ziosi Marcello , Lappalainen Tuuli 
Published: September 2020

AbstractWe present an assay to experimentally test the regulatory effects of genetic variants within transcripts using CRISPR/Cas9 followed by targeted sequencing. We applied the assay to 32 premature stop-gained variants across the genome and in two Mendelian disease genes, 33 putative causal variants of eQTLs, and 62 control variants in HEK293T cells, replicating a subset of variants in HeLa cells. We detected significant effects in the expected direction (in 60% of variants), demonstrating the ability of the assay to capture regulatory effects of eQTL variants and nonsense-mediated decay triggered by premature stop-gained variants. The results suggest a utility for validating transcript-level effects of genetic variants.
The multi-biomarker disease activity test for assessing response to treatment strategies using methotrexate with or without prednisone in the CAMERA-II trial
Authors: Jurgens M. S. , Safy-Khan M. , de Hair M. J. H. , Bijlsma J. W. J. , Welsing P. M. J. , Tekstra J. , Lafeber F. P. J. G. , Sasso E. H. , Jacobs J. W. G. ,   on behalf of the Society for Rheumatology research Utrecht
Published: September 2020

Abstract
Objectives
The CAMERA-II trial compared two tight-control, treat-to-target strategies, initiating methotrexate with prednisone (MTX+pred) or MTX with placebo (MTX+plac), in early RA-patients. The multi-biomarker disease activity (MBDA) blood test objectively measures RA disease activity with a score of 1–100. In CAMERA-II, response profiles of the MBDA score, its individual biomarkers, and DAS28 were assessed.

Methods
We evaluated 92 patients from CAMERA-II of whom clinical data and serum for MBDA testing at baseline and ≥ 1 time-point from months 1, 2, 3, 4, 5, 6, 9, or 12 were available. Changes (∆) from baseline for DAS28 and MBDA score and comparisons of ∆DAS28 and ∆MBDA score over time within the MTX+pred versus the MTX+plac strategy were tested for significance with t tests. Changes in biomarker concentration from baseline to months 1–5 were tested with Wilcoxon signed rank test and tested for difference between treatment arms by Mann-Whitney U test.

Results
MBDA and DAS28 showed similar response profiles, with gradual improvement over the first 6 months in the MTX+plac group, and in the MTX+pred group faster improvement during month 1, followed by gradual improvement. The 12 MBDA biomarkers could be grouped into 4 categories of response profiles, with significant responses for 4 biomarkers during the MTX+plac strategy and 9 biomarkers during the MTX+pred strategy.

Conclusions
MBDA tracked treatment response in CAMERA-II similarly to DAS28. More individual MBDA biomarkers tracked treatment response to MTX+pred than to MTX+plac. Four response profiles could be observed.

Trial registration
CAMERA-II International Standard Randomised Controlled Trial Number: ISRCTN 70365169. Registered on 29 March 2006, retrospectively registered.
Access to oral rehydration solution and zinc supplementation for treatment of childhood diarrhoeal diseases in Sudan
Authors: Mohamed Sagad Omer Obeid , Alawad Mansour Osman Alhaj , Ahmed Asaad Ahmed Mohammed , Mahmoud Ahmed Abdallah Ali 
Published: September 2020

Abstract
Objectives
The decline in diarrhoeal disease-related mortality globally has been attributed to the use of oral rehydration solution (ORS) and zinc supplementation. However, data on ORS and zinc supplementation in Sudan are scarce. We aimed to investigate the access to ORS and zinc treatments and the associated factors, through the analysis of the latest available data from Sudan-Multiple Indicator Cluster Survey (MICS)-2014 obtained from the United Nations Children’s Fund (UNICEF).

Results
A total of 14,081 children were included in this analysis. During the 2 weeks preceding the survey, 29.3% of these children had a diarrhoeal disease. Only 18.9% and 14.8% of these children had received ORS and zinc supplements, respectively. Whereas children from the higher wealth index groups were more likely to receive ORS treatment (fourth group: AOR = 1.301; 95% CI 1.006–1.682), children from rural areas were less likely to receive ORS treatment (AOR = 0.666; 95% CI 0.552–0.803) and zinc supplements (AOR = 0.603; 95% CI 0.500–0.728). The results indicate the existence of unequal access to treatment of childhood diarrhoeal diseases among children under 5 years in Sudan.
A mixed-type intraductal papillary mucinous neoplasm of the pancreas with a histologic combination of gastric and pancreatobiliary subtypes in a 70-year-old woman: a case report
Authors: Ismail Sawsan , Darwisho Rama , Ali Mohammed , Haidar Maen , Houreih Mohammad Adib , Alshehabi Zuheir 
Published: September 2020

Abstract
Background
Intraductal papillary mucinous neoplasms are rare papillary pancreatic neoplasms arising from major pancreatic ducts, characterized by duct dilation and mucin secretion. They comprise approximately 1% of all exocrine neoplasms and are classified according to their anatomical sites into main duct-type, branch duct-type, and mixed-type intraductal papillary mucinous neoplasms. Histological examination plays a crucial role in distinguishing and classifying intraductal papillary mucinous neoplasms into gastric, intestinal, pancreatobiliary, and oncocytic subtypes.

Case presentation
We present the case of a 70-year-old Syrian woman who was admitted to our hospital due to an intermittent epigastric pain accompanied by diarrhea and weight loss with a recent diagnosis of diabetes mellitus. Following clinical, laboratory, and radiological examination, distal pancreatectomy involving the body and the tail of the pancreas was performed. Interestingly, histological examination of the resected specimens revealed the diagnosis of a mixed-type intraductal papillary mucinous neoplasm with a unique combination of gastric and pancreatobiliary subtypes.

Conclusion
To the best of our knowledge, the combination of multiple histological subtypes of intraductal papillary mucinous neoplasms has been recorded in a few studies with reference to the challenging histological detection. Herein, we report a rare case with a significant histological combination, highlighting the difficulties in differential diagnosis due to the absence of ancillary techniques, with a brief review on diagnostic methods, histological characteristics and surgical recommendations.
The feasibility of [18F]EF5-PET/CT to image hypoxia in ovarian tumors: a clinical study
Authors: Laasik Maren , Hynninen Johanna , Forsback Sarita , Noponen Tommi , Seppänen Marko , Hietanen Sakari 
Published: September 2020

Abstract
Rationale
Evaluation of the feasibility of [18F]EF5-PET/CT scan in identifying hypoxic lesions in ovarian tumors in prospective clinical setting.

Methods
Fifteen patients with a suspected malignant ovarian tumor were scanned with [18F]EF5 and [18F]FDG-PET/CT preoperatively. The distribution of [18F]EF5-uptake, total intraabdominal metabolic tumor volume (TMTV), and hypoxic subvolume (HSV) were assessed.

Results
[18F]EF5-PET/CT suggested hypoxia in 47% (7/15) patients. The median HSV was 87 cm3 (31% of TMTV). The [18F]EF5-uptake was detected in primary tumors and in four patients also in intra-abdominal metastases. The [18F]EF5-uptake in cancer tissue was low compared to physiological excretory pathways, complicating the interpretation of PET/CT images.

Conclusions
[18F]EF5-PET/CT is not feasible in ovarian cancer imaging in clinical setting due to physiological intra-abdominal [18F]EF5-accumulation. However, it may be useful when used complementarily to FDG-PET/CT.
A new method based on stacked auto-encoders to identify abnormal weather radar echo images
Authors: Yang Ling , Wang Yun , Wang Zhongke , Qi Yang , Li Yong , Yang Zhipeng , Chen Wenle 
Published: September 2020

AbstractIt is not denied that real-time monitoring of radar products is an important part in actual meteorological operations. But the weather radar often brings out abnormal radar echoes due to various factors, such as climate and hardware failure. So it is of great practical significance and research value to realize automatic identification of radar anomaly products. However, the traditional algorithms to identify anomalies of weather radar echo images are not the most accurate and efficient. In order to improve the efficiency of the anomaly identification, a novel method combining the theory of classical image processing and deep learning was proposed. The proposed method mainly includes three parts: coordinate transformation, integral projection, and classification using deep learning. Furthermore, extensive experiments have been done to validate the performance of the new algorithm. The results show that the recognition rate of the proposed method can reach up to more than 95%, which can successfully achieve the goal of screening abnormal radar echo images; also, the computation speed of it is fairly satisfactory.
Defense against adversarial attacks in traffic sign images identification based on 5G
Authors: Wu Fei , Xiao Limin , Yang Wenxue , Zhu Jinbin 
Published: September 2020

AbstractIn the past decade, artificial intelligence and Internet of things (IoT) technology have been rapid development, gradually began to integrate with each other, especially in coming 5G era. Admittedly, image recognition is the key technology due to a huge number of video cameras integrated in intelligent IoT equipment, such as driverless cars. However, the rapidly growing body of research in adversarial machine learning has demonstrated that the deep learning architectures are vulnerable to adversarial examples. Thus, the raises questions about the security of intelligent Internet of thing (IoT) and trust sensitive areas. This emphasizes the urgent need for practical defense technology that can be deployed to real-time combat attacks at any time. Well-crafted small perturbations lead to the misclassification of legitimate images by neural networks, but not the human visual system. It is worth noting that many attack strategies are designed to disrupt image pixels in a visually imperceptible manner. Therefore, we propose a new defense method and take full advantage of 5G high-speed bandwidth and mobile edge computing (MEC) effectively. We use singular value decomposition (SVD) which is the optimal approximation of matrix in the sense of square loss to eliminate the perturbation. We have conducted extensive and large-scale experiments with German Traffic Sign Recognition Benchmark (GTSRB) datasets and the results show that adversarial attacks, such as Carlini-Wagner’sl2, Deepfool, and I-FSGM, can be better eliminated by the method and provide lower latency.
Standard reference values of the postural control in healthy female adults aged between 31 and 40 years in Germany: an observational study
Authors: Ohlendorf Daniela , Pflaum Julia , Wischnewski Christina , Schamberger Sebastian , Erbe Christina , Wanke Eileen M. , Holzgreve Fabian , Groneberg David A. 
Published: September 2020

Abstract
Background
To detect deviations from a normal postural control, standard values can be helpful for comparison purposes. Since the postural control is influenced by gender and age, the aim of the present study was the collection of standard values for women between 31 and 40 years of age.

Methods
For the study, 106 female, subjectively healthy, German subjects aged between 31 and 40 years (35 ± 2.98 years) were measured using a pressure measuring platform.

Results
Their average BMI was 21.60 ± 4.65 kg/m2. The load distribution between left and right foot was almost evenly balanced with a median 51.46% load on the left [tolerance interval (TR) 37.02%/65.90%; confidence interval (CI) 50.06/52.85%] and 48.54% [TR 43.10/62.97%; CI 47.14/49.93%] on the right foot. The median forefoot load was 33.84% [TR 20.68/54.73%; CI 31.67/37.33%] and the rearfoot load was measured at 66.16% [TR 45.27/79.33%; CI 62.67/68.33%]. The median/mean body sway in the sagittal plane was measured 12 mm [TR 5.45/23.44 mm; CI 11.00/14.00 mm] and 8.17 mm in the frontal plane [TR 3.33/19.08 mm; CI 7.67/9.33 mm]. The median of the ellipse area is 0.72 cm2 [TR 0.15/3.69 cm2; CI 0.54/0.89°]. The ellipse width has a median of 0.66 cm [TR 0.30/1.77 cm; CI 0.61/0.78 cm] and the height of 0.33 cm [TR 0.13/0.71 cm; CI 0.30/0.37 cm]. The ellipse angle (sway, left forefoot to right rearfoot) has a mean of − 19.34° [TR − 59.21/− 0.44°; CI − 22.52/− 16.16°] and the ellipse angle sway from right forefoot to left rearfoot has a mean of 12.75° [TR 0.09/59.09°; CI 9.00/16.33°].

Conclusion
The right-to-left ratio is balanced. The forefoot-to-rearfoot ratio is approximately 1:2. Also, the body sway can be classified with 12 and 8 mm as normal. The direction of fluctuation is either approx. 19° from the left forefoot to the right rearfoot or approx. 13° the opposite. Body weight, height, and BMI were comparable to the German average of women in a similar age group, so that the measured standard values are representative and might serve as baseline for the normal function of the balance system in order to support the diagnosis of possible dysfunctions in postural control.
Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy
Authors: Beschle Judith , Döring Michaela , Kehrer Christiane , Raabe Christa , Bayha Ute , Strölin Manuel , Böhringer Judith , Bevot Andrea , Kaiser Nadja , Bender Benjamin , Grimm Alexander , Lang Peter , Müller Ingo , Krägeloh-Mann Ingeborg , Groeschel Samuel 
Published: September 2020

Abstract
Background
Long-term outcomes of hematopoietic stem cell transplantation (HSCT) in children with juvenile metachromatic leukodystrophy (MLD) have been investigated systematically, while short-term effects of HSCT on the course of the disease remain to be elucidated.

Results
In this study, the clinical course was evaluated over the first 24 months following HSCT, conducted at our center in 12 children with juvenile MLD (mean follow-up 6.75 years, range 3–13.5) and compared with 35 non-transplanted children with juvenile MLD. Motor function (GMFM-88 and GMFC-MLD), cognitive function (FSIQ), peripheral neuropathy (tibial nerve conduction velocity), and cerebral changes (MLD-MR severity score) were tested prospectively.
Seven children remained neurologically stable over a long period, five exhibited rapid disease progression over the first 12 to 18 months after transplantation. In the latter, time from first gross motor symptoms to loss of independent walking was significantly shorter compared with non-transplanted patients at the same stage of disease (p < 0.02). Positive prognostic factors were good motor function (GMFM = 100%, GMFC-MLD = 0) and a low MR severity score (≤ 17) at the time of HSCT.

Conclusions
Our results show that if disease progression occurs, this happens early on after HSCT and proceeds faster than in non-transplanted children with juvenile MLD, indicating that HSCT may trigger disease progression.