bluuebunny/crossref_metadata_2025_split huggingface dataset:
Sequencing Cell-free Fetal DNA in Pregnant Women With GCK-MODY
Authors: Kwak Soo Heon , Powe Camille E , Jang Se Song , Callahan Michael J , Bernstein Sarah N , Lee Seung Mi , Kang Sunyoung , Park Kyong Soo , Jang Hak C , Florez Jose C , Kim Jong-Il , Chae Jong Hee 
Published: April 2021

Abstract

Context
Individuals with monogenic diabetes due to inactivating glucokinase (GCK) variants typically do not require treatment, except potentially during pregnancy. In pregnancy, fetal GCK genotype determines whether treatment is indicated, but noninvasive methods are not clinically available.

Objective
This work aims to develop a method to determine fetal GCK genotype noninvasively using maternal cell-free fetal DNA.

Methods
This was a proof-of-concept study involving 3 pregnant women with a causal GCK variant that used information from 1) massive parallel sequencing of maternal plasma cell-free DNA, 2) direct haplotype sequences of maternal genomic DNA, and 3) the paternal genotypes to estimate relative haplotype dosage of the pathogenic variant-linked haplotype. Statistical testing of variant inheritance was performed using a sequential probability ratio test (SPRT).

Results
In each of the 3 cases, plasma cell-free DNA was extracted once between gestational weeks 24 and 36. The fetal fraction of cell-free DNA ranged from 21.8% to 23.0%. Paternal homozygous alleles that were identical to the maternal GCK variant-linked allele were not overrepresented in the cell-free DNA. Paternal homozygous alleles that were identical to the maternal wild-type–linked allele were significantly overrepresented. Based on the SPRT, we predicted that all 3 cases did not inherit the GCK variant. Postnatal infant genotyping confirmed our prediction in each case.

Conclusion
We have successfully implemented a noninvasive method to predict fetal GCK genotype using cell-free DNA in 3 pregnant women carrying an inactivating GCK variant. This method could guide tailoring of hyperglycemia treatment in pregnancies of women with GCK monogenic diabetes.
Determination of Mass of Nerve-cell Components
Authors: Hydén Holger 
Published: April 2021

ABSTRACT
The method for determination of mass in biological material described by Engström & Lindström (1950) is founded on the fact that the absorption of X-radiation at 8-10 Å is proportional to the mass of the biological substance. In elaborating this method for quantitative analysis of nerve-cells and their components (Brattgård & Hydén, 1952) we found it important to consider the following sources of error:
The reference system. The photographic process and the photometry. The treatment of the material.
Roles of neuroepithelial cell rearrangement and division in shaping of the avian neural plate
Authors: Schoenwolf Gary C. , Alvarez Ignacio S. 
Published: April 2021

ABSTRACTShaping of the neural plate, one of the most striking events of neurulation, involves rapid craniocaudal extension. In this study, we evaluated the roles of two processes in neural plate extension: neuroepithelial cell rearrangement and cell division. Quail epiblast plugs of constant size were grafted either just rostral to Hensen’s node or paranodally and the resulting chimeras were examined at selected times postgrafting. By comparing the size of the original plug, the number of cells it contained and the distribution of cells within it to those same features of the grafts in chimeras, we were able to ascertain that, during transformation of the flat neural plate into the closed neural tube (a period requiring 24 h), the graft undergoes a maximum of 3 rounds of craniocaudal extension (each round of craniocaudal extension was defined as a doubling of graft length, so 3 rounds equaled an 8-fold increase in length). Such extension is accompanied by 2 rounds of cell rearrangement and 2–3 rounds of cell division (cell rearrangement occurred mediolaterally, so each round was defined as a halving of the number of cells in the width of the graft and a doubling of the number of cells in its length; each round of cell division was defined as a doubling of graft cell number). Modeling studies demonstrate that these amounts of cell rearrangement and division are sufficient to approximate the shaping of the neural plate that normally ensues during neurulation, provided that some of the cell division occurs within the longitudinal plane of the neural plate and some within its transverse plane: longitudinal cell division results in craniocaudal extension of the neural plate, whereas transverse cell division results in lateral expansion of the neural plate such as that occurring at its cranial end; cell rearrangement results in craniocaudal extension of the neural plate as well as in its narrowing. In conclusion, our results provide evidence that shaping of the neural plate involves mediolateral cell rearrangement and cell division, with the latter occurring within both the longitudinal and transverse planes of the neural plate.
MRI-based radiomics as response predictor to radiochemotherapy for metastatic cervical lymph node in nasopharyngeal carcinoma
Authors: Xu Hao , Liu Jieke , Huang Ying , Zhou Peng , Ren Jing 
Published: April 2021

Objective:
To establish and substantiate MRI-based radiomic models to predict the treatment response of metastatic cervical lymph node to radiochemotherapy in patients with nasopharyngeal carcinoma (NPC).

Methods:
A total of 145 consecutive patients with NPC were enrolled including 102 in primary cohort and 43 in validation cohort. Metastatic lymph nodes were diagnosed according to radiologic criteria and treatment response was evaluated according to the Response Evaluation Criteria in Solid Tumors. A total of 2704 radiomic features were extracted from contrast-enhanced T 1 weighted imaging (CE- T 1WI) and T 2 weighted imaging (T 2WI) for each patient, and were selected to construct radiomic signatures for CE-T 1WI, T 2WI, and combined CE-T 1WI and T 2WI, respectively. The area under curve (AUC) of receiver operating characteristic, sensitivity, specificity, and accuracy were used to estimate the performance of these radiomic models in predicting treatment response of metastatic lymph node.

Results:
No significant difference of AUC was found among radiomic signatures of CE-T 1WI, T 2WI, and combined CE-T 1WI and T 2WI in the primary and validation cohorts (all p &gt; 0.05). For combined CE-T 1WI and T 2WI data set, 12 features were selected to develop the radiomic signature. The AUC, sensitivity, specificity, and accuracy were 0.927 (0.878–0.975), 0.911 (0.804–0.970), 0.826 (0.686–0.922), and 0.872 (0.792–0.930) in primary cohort, and were 0.772 (0.624–0.920), 0.792 (0.578–0.929), 0.790 (0.544–0.939), and 0.791 (0.640–0.900) in validation cohort.

Conclusion:
MRI-based radiomic models were developed to predict the treatment response of metastatic cervical lymph nodes to radiochemotherapy in patients with NPC, which might facilitate individualized therapy for metastatic lymph nodes before treatment.

Advances in knowledge:
Predicting the response in patients with NPC before treatment may allow more individualizing therapeutic strategy and avoid unnecessary side-effects and costs. Radiomic features extracted from metastatic cervical lymph nodes showed promising application for predicting the treatment response in NPC.
The incidence and relevance of non-fatty components in trunk and extremity lipomatous soft tissue masses
Authors: Berkeley Rupert , Okereke Odinakachukwu , Malhotra Karan , Saifuddin Asif 
Published: April 2021

Objectives:
To determine the incidence and diagnostic relevance of non-fatty ‘solid appearing’ components within lipomatous tumours of the trunk and extremity.

Methods and materials:
Retrospective review of patients referred to a specialist musculoskeletal oncology service over a 12-month period with a lipomatous trunk or extremity soft tissue tumour. The presence and morphology (solitary/multifocal; homogeneous/heterogeneous; well-defined/poorly defined) of non-fatty components was recorded based on MRI and compared with the final histological diagnosis.

Results:
213 patients with 217 lipomatous tumours were included, 119 (55.9%) males and 94 (44.1%) females with mean age of 54.6 years (range 7–93 years). Seventy-seven (35.5%) lesions arose superficial to the fascia and 139 (64.1%) deep, while a single case involved both compartments. Mean maximal tumour dimension was 94.9 mm (range 12–288 mm). Non-fatty ‘solid appearing’ components were identified in 28 (12.9%) cases, of which eight were solitary and 20 were multifocal, six had homogeneous SI and 22 had heterogeneous SI, and eight had well-defined margins, while 20 had poorly defined margins. Histological diagnosis was available in 20 of the tumours containing non-fatty components, 16 of which were benign, two intermediate grade and two malignant (a dedifferentiated liposarcoma and a myxoid liposarcoma). The commonest diagnosis was spindle cell lipoma, which accounted for 10 of 20 (50%) cases with confirmed histology.

Conclusions:
Non-fatty components are identified in ~13% of trunk and extremity lipomatous tumours. The majority of such lesions are benign lipoma variants, most commonly spindle cell lipoma.

Advances in knowledge:
Solid non-fatty components are identified in approximately 13% of lipomatous tumours referred to a specialist sarcoma service. Despite the concern that these may represent dedifferentiated liposarcomas, high-grade tumours were seen in only two cases, the commonest diagnosis being a spindle cell lipoma.
18F-FDG PET-CT postoperative changes after maxillectomy: Findings and pitfalls in interpretation
Authors: Davidson Tima , Nissan Johnatan , Krichmar Maria , Lotan Eyal , Shrot Shai , Gluck Iris , Lawson Paul , Yahalom Ran , Duvdevani Shay 
Published: April 2021

Objective: We investigated the findings and pitfalls of FDG-PET/CT scanning after maxillectomy with reconstruction/rehabilitation procedures, in patients with head and neck malignancies treated during nine years at one tertiary medical centre. Methods: Fourteen patients (10 males), aged 22–84 years, underwent 17 reconstruction/rehabilitation maxillectomy surgeries and 35 PET/CT scans. Postoperative PET/CT findings were correlated with clinical and imaging follow-up. Results: Increased FDG uptake, mean SUVmax 2.4 ± 1.4 (range 0.3–4.3), was observed at the postoperative bed following 12 of 17 surgeries (71%; 10 obturators, two mesh reconstructions). Following the remaining 5/17 surgeries (three with a fat flap and two without any reconstructions), abnormal FDG uptake was not observed at the postoperative bed. CT features of postoperative sites included: non-homogeneous mixed iso/hyperdense structures (hollow or filled) with multiple surrounding and/or inside air bubbles (“sponge appearance”) and mucosal thickening along the postoperative bed wall (in all cases with obturator implants); rich fat density material in reconstructions with a fat flap and in closures without reconstruction, and radiopaque elongated structures in mesh reconstructions. No correlation was found of the mean SUVmax in initial scans, with the time from the surgery date (10 ± 6 months; r=0.04, P=0.90), or with the mean SUVmax in final scans (at 25± 17 months, P=0.17). Conclusions: : Increased FDG uptake, together with corresponding non-specific CT features, may persist for a prolonged period after surgery with obturators and mesh implantations, mimicking malignancy or infection. Awareness of variations in postoperative PET-CT appearance can help avoid false interpretations and redundant invasive procedures.
Evaluating the effect of Ramadan Fasting on patients with chronic diseases
Authors: Zeren Öztürk Güzin , Egici Memet Taşkın , Sağsöz Osman , Bukhari Mulazim Hussain 
Published: April 2021

Objective: The study aimed to investigate the effect of Ramadan Fasting on Patients with Chronic Diseases and their experience during fasting.
Methods: This study was a descriptive research that used a researcher-designed questionnaire in face-to-face interviews with individuals who have at least one chronic disease and visit, for any reason, the Istanbul Sisli Etfal Training and Research Hospital polyclinics. We first asked each participant about fasting during Ramadan. If the participant was not fasting, we asked only the reason(s) and collected socio-demographic data. If a participant was fasting, we administered a researcher-designed questionnaire in face-to-face interviews. Our survey consisted of 19 questions that were designed to evaluate the fasting behaviors, current chronic disease and treatment status of individuals, encountered complications during fasting and their socio-demographic data.
Results: The study participants were 253 people (168 females [66.4%]; mean age: 58.06 ± 11,13) with non-infectious diseases. One hundred sixty (63.2%) participants were fasting during Ramadan and 33 of them (20.6%) had consulted a doctor before fasting, 62.5% (n = 100) said they never faced any symptoms during fasting. Most experienced symptom during fasting was fatigue (56.7%; n = 34). A significant relationship occurred between experiencing symptoms while fasting and gender (p = 0.023) and waking regularly for sahur (p = 0.029).
Conclusions: Many people with chronic diseases fast and experience symptoms while fasting. Being woman and not waking up for sahur was related with the symptoms during Ramadan fasting. Most participants with NIDs fasted during Ramadan without consulting their doctors.
doi: https://doi.org/10.12669/pjms.37.4.3199
How to cite this:Ozturk GZ, Egici MT, Sagsoz O, Bukhari MH. Evaluating the effect of Ramadan Fasting on patients with chronic diseases. Pak J Med Sci. 2021;37(4):1042-1047. doi: https://doi.org/10.12669/pjms.37.4.3199
This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Factors influencing the utilization of dental services in East Java, Indonesia
Authors: Hariyani Ninuk , Setyowati Dini , Sari Multia Ranum , Maharani Diah Ayu , Nair Rahul , Sengupta Kaushik 
Published: April 2021

Background : Despite high levels dental issues and insurance coverage in the East Java province Indonesia, the utilization of dental services is still low. This research aims to test whether certain individual-level sociodemographic, behavioural, and clinical characteristics influenced the current level of dental services utilization by East Java residents. Methods : A secondary analysis was undertaken using data on the East Java province from the Indonesian Basic Health Research 2013, which included 90,551 randomly selected respondents aged 5–100 years old. Socio-demographic characteristics (age, sex, education and residential location), dental behavior (tooth brushing habit), and clinical (dental) condition were self-reported through a questionnaire. Multivariable models were generated to estimate prevalence ratios (PR), and 95% confidence intervals (95% CI). Results : Prevalence of dental service utilization during the last 12 months in East Java province is only 9 %. Respondents 25–<50 years old showed the highest utilization of dental services. Being male, having lower education and living in a district (as opposed to municipalities) were indicators for having lower utilization of dental treatment (PR [95% CI] = 0.81 [0.79–0.84], PR [95% CI] = 0.89 [0.86–0.93] and PR [95% CI] = 0.91 [0.88–0.95], respectively). Respondents with poor tooth brushing habit showed lower utilization of dental services. Having teeth was associated with higher utilization of dental treatment (PR [95% CI] = 1.39 [1.16–1.66). Conclusions : Age, sex, education and residential location influence the utilization of dental services among Indonesia’s East Java residents. Poor tooth brushing habits and being edentulous are also indicators of lesser utilization. These results call for urgent public health interventions to increase equitable dental care services utilization.
Protocol for a randomised controlled trial of a primary care intervention to Reverse Frailty and Enhance Resilience through Exercise and dietary protein Education (REFEREE) in community-dwelling adults aged 65 and over
Authors: Travers John , Romero-Ortuno Roman , Power Dermot , Doran Peter , Langan John , MacNamara Fergal , McCormack Darren , McDermott Christopher , McEntire Jude , McKiernan Joanne , Vencken Sebastian , Murphy Andrew W. , Murphy Patrick J. , Ní Shé Éidin , O'Shea Diarmuid , Cooney Marie-Therese 
Published: April 2021

Introduction: Resistance exercises and dietary protein have been shown to reverse frailty, yet they are not commonly offered in clinical practice. We aim to measure changes in health outcomes, including physical frailty status (SHARE-FI), clinical frailty status (CFS) and muscle mass, as a result of an optimised exercise and dietary intervention versus usual care in a primary care (PC) setting. The intervention has been derived from our systematic review and meta-analysis findings and optimised through patient and public involvement and multidisciplinary team input. Methods: This study is a multicentre randomised controlled parallel arm trial with a three month follow up. 210 eligible people aged 65 and over, no more than mildly frail, will be recruited in seven PC practices in Ireland and randomly assigned to ‘intervention’ or ‘usual care’. Intervention participants will be provided a leaflet with strength exercises, protein dietary guidance and educational discussion. Baseline measurements will include demographics, health indicators, comorbidities, malnutrition universal screening tool (MUST), frailty status (SHARE-FI, CFS) and muscle mass (bioelectrical impedance). Primary outcome will be frailty status measured by SHARE-FI at three months. Secondary outcomes include CFS, muscle mass, in-patient hospitalisation, long term care admission, and subjective ease of intervention and difference to general health. Statistical analysis will be undertaken by an independent statistician. Discussion: The diversity of tested frailty interventions and lack of clear guidance may contribute to low implementation rates. The REFEREE trial focusses on an optimised intervention for a syndrome that poses growing individual and societal challenges. It is hoped results can encourage mainstream adoption of interventions to reverse clinical frailty and build resilience in primary care. Trial registration: ClinicalTrials.gov ID NCT04628754; registered on 13 November 2020.
REal-time Assessment of Community Transmission (REACT) of SARS-CoV-2 virus: Study protocol
Authors: Riley Steven , Atchison Christina , Ashby Deborah , Donnelly Christl A. , Barclay Wendy , Cooke Graham S. , Ward Helen , Darzi Ara , Elliott Paul ,   REACT study group
Published: April 2021

Background: England, UK has one of the highest rates of confirmed COVID-19 mortality globally. Until recently, testing for the SARS-CoV-2 virus focused mainly on healthcare and care home settings. As such, there is far less understanding of community transmission. Protocol: The REal-time Assessment of Community Transmission (REACT) programme is a major programme of home testing for COVID-19 to track progress of the infection in the community. REACT-1 involves cross-sectional surveys of viral detection (virological swab for RT-PCR) tests in repeated samples of 100,000 to 150,000 randomly selected individuals across England. This examines how widely the virus has spread and how many people are currently infected. The age range is 5 years and above. Individuals are sampled from the England NHS patient list. REACT-2 is a series of five sub-studies towards establishing the seroprevalence of antibodies to SARS-CoV-2 in England as an indicator of historical infection. The main study (study 5) uses the same design and sampling approach as REACT-1 using a self-administered lateral flow immunoassay (LFIA) test for IgG antibodies in repeated samples of 100,000 to 200,000 adults aged 18 years and above. To inform study 5, studies 1-4 evaluate performance characteristics of SARS-CoV-2 LFIAs (study 1) and different aspects of feasibility, usability and application of LFIAs for home-based testing in different populations (studies 2-4). Ethics and dissemination: The study has ethical approval. Results are reported using STROBE guidelines and disseminated through reports to public health bodies, presentations at scientific meetings and open access publications. Conclusions: This study provides robust estimates of the prevalence of both virus (RT-PCR, REACT-1) and seroprevalence (antibody, REACT-2) in the general population in England. We also explore acceptability and usability of LFIAs for self-administered testing for SARS-CoV-2 antibody in a home-based setting, not done before at such scale in the general population.
Speeding Up Paulson’s Procedure for Large-Scale Problems Using Parallel Computing
Authors: Zhong Ying , Liu Shaoxuan , Luo Jun , Hong L. Jeff 
Published: April 2021

With the rapid development of computing technology, using parallel computing to solve large-scale ranking-and-selection (R&S) problems has emerged as an important research topic. However, direct implementation of traditionally fully sequential procedures in parallel computing environments may encounter various problems. First, the scheme of all-pairwise comparisons, which is commonly used in fully sequential procedures, requires a large amount of computation and significantly slows down the selection process. Second, traditional fully sequential procedures require frequent communication and coordination among processors, which are also not efficient in parallel computing environments. In this paper, we propose three modifications on one classical fully sequential procedure, Paulson’s procedure, to speed up its selection process in parallel computing environments. First, we show that if no common random numbers are used, then we can significantly reduce the computation spent on all-pairwise comparisons at each round. Second, by batching different alternatives, we show that we can reduce the communication cost among the processors, leading the procedure to achieve better performance. Third, to boost the procedure’s final-stage selection, when the number of surviving alternatives is less than the number of processors, we suggest to sample all surviving alternatives to the maximal number of observations that they should take. We show that, after these modifications, the procedure remains statistically valid and is more efficient compared with existing parallel procedures in the literature. Summary of Contribution: Ranking and selection (R&S) is a branch of simulation optimization, which is an important area of operations research. In recent years, using parallel computing to solve large-scale R&S problems has emerged as an important research topic, and this research topic is naturally situated in the intersection of computing and operations research. In this paper, we consider how to improve a fully sequential R&S procedure, namely, Paulson’s procedure, to reduce the high computational complexity of all-pairwise comparisons and the burden of frequent communications and coordination, so that the procedure is more suitable and more efficient in solving large-scale R&S problems using parallel computing environments that are becoming ubiquitous and accessible for ordinary users. The procedure designed in this paper appears more efficient than the ones available in the literature and is capable of solving R&S problems with over a million alternatives in a parallel computing environment with 96 processors. The paper also extended the theory of R&S by showing that the all-pairwise comparisons may be decomposed so that the computational complexity may be reduced significantly, which drastically improves the efficiency of all-pairwise comparisons as observed in numerical experiments.