bluuebunny/crossref_metadata_2025_split huggingface dataset:
Megaconial congenital muscular dystrophy due to novel CHKB variants: a case report and literature review
Authors: Magri Francesca , Antognozzi Sara , Ripolone Michela , Zanotti Simona , Napoli Laura , Ciscato Patrizia , Velardo Daniele , Scuvera Giulietta , Nicotra Valeria , Giacobbe Antonella , Milani Donatella , Fortunato Francesco , Garbellini Manuela , Sciacco Monica , Corti Stefania , Comi Giacomo Pietro , Ronchi Dario 
Published: September 2022

Abstract
Background
Choline kinase beta (CHKB) catalyzes the first step in the de novo biosynthesis of phosphatidyl choline and phosphatidylethanolamine via the Kennedy pathway. Derangement of this pathway might also influence the homeostasis of mitochondrial membranes.
Autosomal recessive CHKB mutations cause a rare form of congenital muscular dystrophy known as megaconial congenital muscular dystrophy (MCMD).

Case presentation
We describe a novel proband presenting MCMD due to unpublished CHKB mutations. The patient is a 6-year-old boy who came to our attention for cognitive impairment and slowly progressive muscular weakness. He was the first son of non-consanguineous healthy parents from Sri Lanka. Neurological examination showed proximal weakness at four limbs, weak osteotendinous reflexes, Gowers’ maneuver, and waddling gate. Creatine kinase levels were mildly increased. EMG and brain MRI were normal. Left quadriceps skeletal muscle biopsy showed a myopathic pattern with nuclear centralizations and connective tissue increase. Histological and histochemical staining suggested subsarcolemmal localization and dimensional increase of mitochondria. Ultrastructural analysis confirmed the presence of enlarged (“megaconial”) mitochondria. Direct sequencing of CHKB identified two novel defects: the c.1060G > C (p.Gly354Arg) substitution and the c.448-56_29del intronic deletion, segregating from father and mother, respectively. Subcloning of RT-PCR amplicons from patient’s muscle RNA showed that c.448-56_29del results in the partial retention (14 nucleotides) of intron 3, altering physiological splicing and transcript stability. Biochemical studies showed reduced levels of the mitochondrial fission factor DRP1 and the severe impairment of mitochondrial respiratory chain activity in patient’s muscle compared to controls.

Conclusions
This report expands the molecular findings associated with MCMD and confirms the importance of considering CHKB variants in the differential diagnosis of patients presenting with muscular dystrophy and mental retardation. The clinical outcome of MCMD patients seems to be influenced by CHKB molecular defects. Histological and ultrastructural examination of muscle biopsy directed molecular studies and allowed the identification and characterization of an intronic mutation, usually escaping standard molecular testing.
First-in-human use of 11C-CPPC with positron emission tomography for imaging the macrophage colony-stimulating factor 1 receptor
Authors: Coughlin Jennifer M. , Du Yong , Lesniak Wojciech G. , Harrington Courtney K. , Brosnan Mary Katherine , O’Toole Riley , Zandi Adeline , Sweeney Shannon Eileen , Abdallah Rehab , Wu Yunkou , Holt Daniel P. , Hall Andrew W. , Dannals Robert F. , Solnes Lilja , Horti Andrew G. , Pomper Martin G. 
Published: September 2022

Abstract
Purpose
Study of the contribution of microglia to onset and course of several neuropsychiatric conditions is challenged by the fact that these resident immune cells often take on different phenotypes and functions outside the living brain. Imaging microglia with radiotracers developed for use with positron emission tomography (PET) allows researchers to study these cells in their native tissue microenvironment. However, many relevant microglial imaging targets such as the 18 kDa translocator protein are also expressed on non-microglial cells, which can complicate the interpretation of PET findings. 11C-CPPC was developed to image the macrophage colony-stimulating factor 1 receptor, a target that is expressed largely by microglia relative to other cell types in the brain. Our prior work with 11C-CPPC demonstrated its high, specific uptake in brains of rodents and nonhuman primates with neuroinflammation, which supports the current first-in-human evaluation of its pharmacokinetic behavior in the brains of healthy individuals.

Methods
Eight healthy nonsmoker adults completed a 90-min dynamic PET scan that began with bolus injection of 11C-CPPC. Arterial blood sampling was collected in order to generate a metabolite-corrected arterial input function. Tissue time-activity curves (TACs) were generated using regions of interest identified from co-registered magnetic resonance imaging data. One- and two-tissue compartmental models (1TCM and 2TCM) as well as Logan graphical analysis were compared.

Results
Cortical and subcortical tissue TACs peaked by 37.5 min post-injection of 11C-CPPC and then declined. The 1TCM was preferred. Total distribution volume (VT) values computed from 1TCM aligned well with those from Logan graphical analysis (t* = 30), with VT values relatively high in thalamus, striatum, and most cortical regions, and with relatively lower VT in hippocampus, total white matter, and cerebellar cortex.

Conclusion
Our results extend support for the use of 11C-CPPC with PET to study microglia in the human brain.
Development and validation of 68Ga-PSMA-11 PET/CT-based radiomics model to detect primary prostate cancer
Authors: Zang Shiming , Ai Shuyue , Yang Rui , Zhang Pengjun , Wu Wenyu , Zhao Zhenyu , Ni Yudan , Zhang Qing , Sun Hongbin , Guo Hongqian , Jia Ruipeng , Wang Feng 
Published: September 2022

Abstract
Background
This study aimed to develop a novel analytic approach based on a radiomics model derived from 68Ga-prostate-specific membrane antigen (PSMA)-11 PET/CT for predicting intraprostatic lesions in patients with prostate cancer (PCa).

Methods
This retrospective study included consecutive patients with or without PCa who underwent surgery or biopsy after 68Ga-PSMA-11 PET/CT. A total of 944 radiomics features were extracted from the images. A radiomics model was constructed using the least absolute shrinkage and selection operator (LASSO) algorithm with tenfold cross-validation in the training set. PET/CT images for the test set were reviewed by experienced nuclear medicine radiologists. The sensitivity, specificity, positive predictive value, negative predictive value, and area under the receiver operating characteristic curve (AUC) were calculated for the model and radiologists’ results. The AUCs were compared.

Results
The total of 125 patients (86 PCa, 39 benign prostate disease [BPD]) included 87 (61 PCa, 26 BPD) in the training set and 38 (61 PCa, 26 BPD) in the test set. Nine features were selected to construct the radiomics model. The model score differed between PCa and BPD in the training and test sets (both P < 0.001). In the test set, the radiomics model performed better than the radiologists’ assessment (AUC, 0.85 [95% confidence interval 0.73, 0.97] vs. 0.63 [0.47, 0.79]; P = 0.036) and showed higher sensitivity (model vs radiologists, 0.84 [0.63, 0.95] vs. 0.74 [0.53, 0.88]; P = 0.002).

Conclusion
Radiomics analysis based on 68Ga-PSMA-11 PET may non-invasively predict intraprostatic lesions in patients with PCa.
Ethnic differences between South Asians and White Caucasians in cardiovascular disease-related mortality in developed countries: a systematic literature review
Authors: Patel Mubarak , Abatcha Salim , Uthman Olalekan 
Published: September 2022

AbstractBackgroundCardiovascular disease is the leading cause of death worldwide, with significantly worse mortality-related outcomes in ethnic minorities in developed countries. A systematic literature review and meta-analysis of observational studies was conducted to investigate cardiovascular disease-related mortality inequalities between South Asian and White Caucasian ethnic groups.MethodsPublished studies on mortality between South Asians and Whites in developed countries were retrieved from MEDLINE, PubMed, Embase, Web of Science, and grey literature sources (inception—April 2021) and critically appraised using the Quality in Prognosis Studies tool. Bayesian random-effects meta-analyses were performed for both primary and secondary outcomes. Heterogeneity was determined using theI2statistic.ResultsOf the 9879 studies screened originally, 41 were deemed eligible. A further 3 studies were included via the later search. Of these, 15 reported cardiovascular disease-related mortality, 23 reported all-cause mortality, and 6 reported both.The meta-analysis results showed that South Asians had a significantly increased risk of cardiovascular disease mortality compared to Whites (risk ratio = 1.32; 95% credible interval = 1.14 to 1.54) and a decreased risk of all-cause mortality (risk ratio = 0.95; 95% credible interval = 0.83 to 1.12).DiscussionSouth Asians had statistically significantly higher odds of cardiovascular disease-related mortality compared to Whites, but not for all-cause mortality. Risk of bias was a serious concern mainly due to a lack of confounders being reported.Systematic review registrationPROSPERO: CRD42021240865
Cloud based evaluation of databases for stock market data
Authors: Singh Baldeep , Martyr Randall , Medland Thomas , Astin Jamie , Hunter Gordon , Nebel Jean-Christophe 
Published: September 2022

AbstractAbout fifty years ago, the world’s first fully automated system for trading securities was introduced by Instinet in the US. Since then the world of trading has been revolutionised by the introduction of electronic markets and automatic order execution. Nowadays, financial institutions exploit the associated flow of daily data using more and more advanced analytics to gain valuable insight on the markets and inform their investment decisions. In particular, time series of Open High Low Close prices and Volume data are of special interest as they allow identifying trading patterns useful for forecasting both stock prices and volumes. Traditionally, relational databases have been used to store this data; however, the ever-growing volume of this data, the adoption of the hybrid cloud model, and the availability of novel non-relational databases which claim to be more scalable and fault tolerant raise the question whether relational databases are still the most appropriate. In this study, we define a set of criteria to evaluate performance of a variety of databases on a hybrid cloud environment. There, we conduct experiments using standard and custom workloads. Results show that migration to a MongoDB database would be most beneficial in terms of cost, storage space, and throughput. In addition, organisations wishing to take advantage of autoscaling and the maintenance power of the cloud should opt for a cloud native solution.
Long-term skeletal and dentoalveolar effects of hybrid rapid maxillary expansion and facemask treatment in growing skeletal Class III patients: a retrospective follow-up study
Authors: Maino Giuliano B. , Cremonini Francesca , Maino Giovanna , Paoletto Emanuele , De Maio Matteo , Spedicato Giorgio Alfredo , Palone Mario , Lombardo Luca 
Published: September 2022

Abstract
Background
Regardless of the treatment protocol, stability in Class III patients always represents a major concern. The aim of this study was to assess the short and long-term skeletal and dentoalveolar modifications in a group of class III patients treated with hybrid rapid maxillary expander (RME) and facemask (FM). Indeed, no long-term studies have been conducted yet with the objective of evaluating the effects of this kind of approach when applied to patients who have already gone thought their peak of growth.

Material and methods
27 patients with skeletal Class III malocclusion were treated using hybrid RME according to alternating rapid maxillary expansion and constriction (ALT-RAMEC) protocol, followed by 4 months of facemask therapy. After the orthopaedic phase, each patient underwent orthodontic treatment with fixed multibracket appliances. A mean follow-up of 7 years, 10 months was performed. Pre-treatment (TO), post-treatment (T1) and follow up (T2) cephalometric tracing were analysed, comparing dental and skeletal measurements.

Results
Point A advanced by a mean of 3.5 mm with respect to VerT, then relapsed by 0.7 in the post-facemask period, thereby yielding of a mean advancement of 2.7 at T2. The sagittal relationship significantly changed after RME + facemask protraction (3.8° of ANB and 5.189 mm of Wits). Although both Wits and ANB values worsened over time, the improvement from T0 is still appreciable at T2.

Conclusion
Despite the physiological relapse due to mandibular growth, the long-term cephalometric follow-up confirms the maintenance of all positive outcomes of the previous orthopaedic treatment with hybrid RME and facemask.
Clustering of distance sensors to transfer training data for relative position and orientation measurement devices
Authors: Amagai Sogo , Ye Qiwei , Fukuoka Yuji , Warisawa Shin’ichi , Fukui Rui 
Published: September 2022

AbstractCar-sharing services have recently attracted considerable attention. We proposed a platooning system to reduce the number of vehicle distributors. The platooning system uses a measurement device embedded with low-cost infrared distance sensors to measure the relative position and orientation of vehicles. The relative positions and orientations are obtained from the training data. However, preparing training data is time consuming. In this study, a sensor clustering method that selects sensors with similar output characteristics is proposed. Consequently, a set of training data are used repetitively for all relative positions and orientation measurement devices embedded with sensors with similar output characteristics. The verification experiment of the sensor clustering revealed that the calculation range restriction is the key technique. Platooning has been successful in various courses by using sensors with similar output characteristics. Based on the results, the proposed clustering method can effectively collect sensors with similar output characteristics and it realizes the training data transfer to the newly manufactured devices. In addition, it has the potential to improve production efficiency for the mass production of relative position and orientation measurement devices.
Microcystic serous cystadenoma mimicking pancreatic neuroendocrine neoplasm: report of a resected case with preoperative diagnostic difficulty and review of the literature
Authors: Nakamura Shinichiro , Murata Yasuhiro , Uchida Katsunori , Nishikawa Kenichiro , Iizawa Yusuke , Fujii Takehiro , Tanemura Akihiro , Kuriyama Naohisa , Kishiwada Masashi , Mizuno Shugo 
Published: September 2022

Abstract
Background
Microcystic pancreatic serous cystadenoma (SCA) can be managed without surgery in selected patients. However, the preoperative diagnosis of microcystic SCA remains challenging, and it is potentially misdiagnosed as other pancreatic cystic neoplasms or solid tumors, especially small microcystic SCA.

Case presentation
This was a case of a 27-year-old male patient with microcystic SCA causing difficulty in the differential diagnosis from pancreatic neuroendocrine neoplasm (pNEN). A pancreatic tail mass was incidentally discovered on abdominal ultrasound (US). A contrast-enhanced computed tomography (CT) scan revealed a solid tumor measuring 13 mm with early enhancement in the arterial phase at the pancreatic tail. The tumor showed low intensity on T1-weighted magnetic resonance image, high intensity on T2-weighted image, and a slightly hyperechoic mass on endoscopic US (EUS). EUS-fine needle aspiration (EUS-FNA) did not lead to a definitive diagnosis. The tumor was clinically diagnosed as a pNEN, and a laparoscopic spleen-preserving distal pancreatectomy using the Warshaw technique was performed. The final histopathological diagnosis was microcystic SCA.

Conclusion
Small microcystic SCA is difficult to distinguish from a hypervascular pancreatic tumor such as pNEN on imaging studies, and it is necessary to focus on the tumor echogenicity of EUS to differentiate microcystic SCA from pNEN preoperatively.
Insulin edema after initiation of hybrid closed-loop insulin pump therapy with continuous glucose monitoring: a case report
Authors: Vasigh Mostafa , Hopkins Rachel 
Published: September 2022

Abstract
Background
Insulin edema is a rare complication which can present after initiation or intensification of insulin therapy in people with diabetes. Initiation of closed-loop hybrid insulin pump therapy can result in rapid improvement in glycemic control for people with diabetes. We present a case in which transition to a closed-loop hybrid insulin pump system, followed by significant improvement in glycemic control, led to development of insulin edema in a person with type 1 diabetes.

Case presentation
We present a 51-year-old woman with type 1 diabetes of 16 years duration, on insulin pump therapy for more than 10 years, who presented for follow-up 7 weeks after transitioning to a hybrid closed-loop insulin pump system with continuous glucose monitoring (CGM). She complained of weight gain and bilateral lower extremity edema which had started two weeks after the change in pump modality. Laboratory studies and echocardiogram did not reveal any etiology of the acute edema. HbA1c was 3.3% lower than the previous measurement 15 weeks earlier, and there was a significant increase in the daily total insulin dose. With exclusion of other causes of acute edema, the patient was diagnosed with insulin edema and started on hydrochlorothiazide. On follow up, her lower extremity edema significantly improved although her weight did not return to baseline.

Conclusion
To our knowledge, this is the first case of insulin edema reported in a person with type 1 diabetes using CGM and a hybrid closed-loop insulin pump system. The increase in total daily insulin dose, rapid improvement of glycemic control, and lack of hypoglycemic episodes were important factors to consider in evaluation of this case. Use of hybrid closed-loop systems can help achieve rapid improvement in glycemic control in people with diabetes. This case suggests that consideration should be given to adjusting initial blood glucose targets when starting these remarkable new technologies in people with baseline poor glycemic control.
Should they stay or should they go? A case study on international students in Germany
Authors: Krannich Sascha , Hunger Uwe 
Published: September 2022

AbstractInternational students are conceived as essential contributors to the development of their countries of origin after they finished their studies abroad. Political decision-makers of the countries of origin therefore take measures that students will eventually return to their home countries and bring back their gained knowledge and consequently contribute to development back home. However, is a return always the best way to contribute to development in the country of origin or can international graduates contribute equally from abroad or through their high mobility between different countries? This article aims to address this question on the basis of an intensive three years mixed-methods-based investigation in six countries – Germany as country of study and Colombia, Georgia, Ghana, Indonesia and Israel/Palestinian territories as countries of origin. We investigated a specific German scholarship program, which gives scholarships to international students from the Global South to study in Germany. Although a return to the country of origin is a precondition for the scholarship, our study indicates that not only return migration, but also remains and circular migration can create beneficial circumstances that former students practice diverse development-related functions and therefore contribute to the development in their country of origin in a specific way. Here, it is important to recognize that scholarship programs do not only offer the opportunity to fund studying abroad, but they can be also designed for the needs of scholars during, before and after their studies, which would also benefit their developmental contributions.
Determinants of community acquired pneumonia among 2 to 59 months of age children in Northeast Ethiopia: a case-control study
Authors: Bazie Getaw Walle , Seid Nebat , Admassu Bitiya 
Published: September 2022

Abstract
Background
Pneumonia is the leading cause of mortality and morbidity in under-five children. Regardless of this fact, efforts to identify determinants of pneumonia have been limited in the study area. The aim of this study was to identify determinants of community-acquired pneumonia among 2–59 months of age children in Northeast Ethiopia.

Methods
Facility-based unmatched case-control study was conducted from February to April, 2019 among 444 (148 cases and 296 controls) 2–59 months of age children in Northeast Ethiopia. Cases were children with pneumonia, while controls were non-pneumonia children. Data were collected using a structured and pre-tested questionnaire by integrated management of neonatal and childhood illness trained nurses. The data were entered into Epi Data and then transferred to SPSS version 23 for analysis. Binary logistic regression analysis was used to test associations between the independent and the dependent variables. Variables with P-value ≤ 0.05 in the multivariable logistic regression model were declared as significant variables.

Results
Children having older age mother (AOR = 0.03, 95% CI; 0.01,0.14), having mothers who are housewife (AOR = 0.19, 95% CI; 0.07,0.54), not having separate kitchen (AOR = 5.37; 95% CI: 1.65,17.43), having a history of diarrhea in the last 2 weeks (AOR = 10.2; 95% CI: 5.13, 20.18), having a history of acute lower respiratory infection in the last 2 weeks (AOR = 8.3, 95% CI: 3.32, 20.55) and having a history of parental asthma in the family (AOR = 4.9, 95% CI: 2.42, 10.18) were found to be determinants of community-acquired pneumonia.

Conclusions
Children having older age mother, having mothers who are housewife, not having separate kitchen, having a history of diarrhea in the last 2 weeks, having a history of acute lower respiratory infection in the last 2 weeks and having a history of parental asthma in the family were found to be determinants of community-acquired pneumonia. Therefore, all health institutions should promote early treatments and prevention of diarrhea and acute lower respiratory infections of under-five children at the health facility and household level.