bluuebunny/crossref_metadata_2025 huggingface dataset:
Feedback from basketball coaches: Type, quantity, and real-time outcomes
Authors: Zach Sima , Furman Elia
Published: June 2022

The aim of this study was to examine the relationship between different types and frequencies of feedback given by basketball coaches and the outcome of possessions during the game. The verbal behavior of three basketball coaches was recorded during five full games, and these games were also video recorded. On average, the coaches gave 2.54 feedbacks per possession, with a total of 1931 feedbacks during 761 possessions in all five games. Feedback responses were classified into six sub-categories, including positive, negative, open, closed, focused, and general, and could belong to more than one category. Those that did not fit any category were marked as neutral. The relationship between the amount and types of feedbacks given and the results of the possessions was examined. Results show that of the six sub-categories, only positive and negative feedbacks were significantly related to possession outcomes. Moreover, the coaches tended to give large amounts of feedback and in varying frequencies, regardless of the possession outcomes. In conclusion, our results indicate that although not all types of feedback directly affect the performance during the game of basketball, positive feedback seems to be beneficial while negative feedback could even cause harm, even if to a relatively small extent. Basketball coaches should therefore make an effort to provide more positive feedback and less negative feedback.
A Network Pharmacological Elucidation of the Systematic Treatment Activities and Mechanisms of the Herbal Drug FDY003 Against Esophageal Cancer
Authors: Lee Ho-Sung , Lee In-Hee , Kang Kyungrae , Park Sang-In , Jung Minho , Yang Seung Gu , Kwon Tae-Wook , Lee Dae-Yeon
Published: June 2022

Despite accumulating evidence for the value of herbal drugs for cancer treatment, the mechanisms underlying their effects have not been fully elucidated in a systematic manner. In this study, we performed a network pharmacological analysis to elucidate the anti-esophageal cancer (EC) properties of the herbal drug FDY003, a mixture of Artemisia capillaris Thunberg (AcT), Cordyceps militaris (Linnaeus) Link (Cm), and Lonicera japonica Thunberg (LjT). FDY003 reduced human EC cell viability and increased the pharmacological effects of chemotherapeutic drugs. There were 15 active pharmacological chemicals targeting 61 EC-associated genes and proteins in FDY003. The FDY003 targets were key regulators of major oncogenic EC-associated signaling pathways, such as phosphoinositide 3-kinase (PI3K)-Akt, hypoxia-inducible factor (HIF)-1, mitogen-activated protein kinase (MAPK), tumor necrosis factor (TNF), p53, Janus kinase (JAK)-signal transducer and activator of transcription (STAT), erythroblastic leukemia viral oncogene homolog (ErbB), nuclear factor kappa-light-chain-enhancer of activated B cells (NF-kappa B), and vascular endothelial growth factor (VEGF) cascades. These EC-associated genes, proteins, and pathways targeted by FDY003 determine the malignant behaviors of EC cells, including cell death, survival, division, proliferation, and growth. This network pharmacological analysis provides an integrative view of the mechanisms by which FDY003 contributes to EC treatment.
A Prospective Evaluation of Fatigue in Pediatric Brain Tumor Patients Treated With Radiation Therapy
Authors: Gandy Kellen , Chambers Tiffany , Raghubar Kimberly P. , Fatih Okcu Mehmet , Chintagumpala Murali , Taylor Olga , Mahajan Anita , Kahalley Lisa S. , Chan Wenyaw , Grosshans David R. , Brown Austin L. , Douglas Ris Martin
Published: June 2022

Background: Fatigue is a well-established consequence of cranial radiotherapy in survivors of pediatric brain tumor, but less is known about acute fatigue during radiotherapy treatment. This study aimed to longitudinally evaluate fatigue in newly diagnosed pediatric patients with brain tumors during treatment. Methods: Primary caregivers of pediatric patients with brain tumors completed the proxy-reported Parent Fatigue Scale assessments prior to radiotherapy and weekly during radiotherapy treatment. The association between clinical factors and fatigue at each assessment was evaluated with multiple linear regressions. A comparison of fatigue between radiation modalities was also analyzed. Results: A total of 33 caregivers completed pre-radiation fatigue assessments, with 29 reporting fatigue during radiotherapy. Patients were aged 3 to 16 years ( M = 8.32) at diagnosis and diagnosed with medulloblastoma ( n = 23), primitive neuroectodermal tumor ( n = 2), ependymoma ( n = 1), germ cell tumor ( n = 1), pineoblastoma ( n = 1), atypical teratoid rhabdoid ( n = 1), and other unspecific tumors ( n = 3). Moderate-to-severe fatigue was reported for the majority of patients (31/33; 94%) during treatment. Craniospinal irradiation dose was the only significant predictor of fatigue ( p < .05), but this association was restricted to the first week of therapy and was attenuated by therapy completion. Discussion: Although fatigue is often considered a long-term consequence of cranial radiotherapy, this pilot study demonstrates that moderate-to-severe fatigue is pervasive prior to radiotherapy and persists throughout treatment in pediatric patients with brain tumors, regardless of radiation modality or clinical factors. Additional research is warranted to establish a link between acute and long-term fatigue and develop interventions to mitigate this adverse outcome.
A pulmonary rehabilitation shared decision-making intervention for patients living with COPD: PReSent: protocol for a feasibility study
Authors: Barradell Amy C. , Houchen-Wolloff Linzy , Robertson Noelle , Bekker Hilary L. , Singh Sally J.
Published: June 2022

Background

Despite the variety of pulmonary rehabilitation programmes for patients living with COPD, uptake remains low. To improve this, it is recommended that health professionals engage patients in informed decisions about pulmonary rehabilitation. Shared decision-making (SDM) facilitates informed and value-based decision-making between patients and health professionals. This protocol describes the development and evaluation of a complex SDM intervention for patients living with COPD, who are referred for pulmonary rehabilitation, and their pulmonary rehabilitation health professional.

Methods and analysis

We are developing a complex SDM intervention involving a patient decision aid (PtDA) and a decision coaching workshop. Prior to patient recruitment, pulmonary rehabilitation health professionals will attend the workshop. Upon referral to pulmonary rehabilitation, patients will receive the PtDA to support their decision-making prior to and during their pulmonary rehabilitation assessment with a health professional. The intervention will be evaluated in a one-arm exploratory study to investigate its feasibility and acceptability for patients and health professionals, with an integrated fidelity assessment. The primary outcome is recruitment feasibility, data collection feasibility and intervention fidelity. Secondary outcomes include routine pulmonary rehabilitation data, decisional conflict, patient activation, intervention attendance/attrition and patient and pulmonary rehabilitation health professional experience of the intervention. Quantitative outcomes will be evaluated using the most appropriate statistical test, dependent on the sample distribution. Qualitative outcomes will be evaluated using reflexive thematic analysis. Fidelity will be assessed using the Observer OPTION 5 scale.

Conclusion

This intervention will provide structure for an informed and values-based decision-making consultation between a patient with COPD and a pulmonary rehabilitation health professional with the potential for optimising pulmonary rehabilitation decision-making.
Accurate reconstruction of viral genomes in human cells from short reads using iterative refinement
Authors: Lee Sau-Dan , Wu Man , Lo Kwok-Wai , Yip Kevin Y.
Published: June 2022

Background

After an infection, human cells may contain viral genomes in the form of episomes or integrated DNA. Comparing the genomic sequences of different strains of a virus in human cells can often provide useful insights into its behaviour, activity and pathology, and may help develop methods for disease prevention and treatment. To support such comparative analyses, the viral genomes need to be accurately reconstructed from a large number of samples. Previous efforts either rely on customized experimental protocols or require high similarity between the sequenced genomes and a reference, both of which limit the general applicability of these approaches. In this study, we propose a pipeline, named ASPIRE, for reconstructing viral genomes accurately from short reads data of human samples, which are increasingly available from genome projects and personal genomics. ASPIRE contains a basic part that involves de novo assembly, tiling and gap filling, and additional components for iterative refinement, sequence corrections and wrapping.

Results

Evaluated by the alignment quality of sequencing reads to the reconstructed genomes, these additional components improve the assembly quality in general, and in some particular samples quite substantially, especially when the sequenced genome is significantly different from the reference. We use ASPIRE to reconstruct the genomes of Epstein Barr Virus (EBV) from the whole-genome sequencing data of 61 nasopharyngeal carcinoma (NPC) samples and provide these sequences as a resource for EBV research.

Conclusions

ASPIRE improves the quality of the reconstructed EBV genomes in published studies and outperforms TRACESPipe in some samples considered.
Non-invasive quantification of pressure–volume loops in patients with Fontan circulation
Authors: Sjöberg Pia , Liuba Petru , Arheden Håkan , Heiberg Einar , Carlsson Marcus
Published: June 2022

Background

Pressure–volume (PV) loops provide comprehensive information of cardiac function, but commonly implies an invasive procedure under general anesthesia. A novel technique has made it possible to non-invasively estimate PV loops with cardiac magnetic resonance (CMR) and brachial pressure which would enable good volume estimation of often anatomically complex ventricles without the need of anesthesia in most cases. In this study we aimed to compare how hemodynamic parameters derived from PV loops in patients with Fontan circulation differ to controls.

Methods

Patients with Fontan circulation (n = 17, median age 12 years, IQR 6–15) and healthy controls (n = 17, 14 years, IQR 13–22) were examined with CMR. Short axis balanced steady-state free-precession cine images covering the entire heart were acquired. PV loops were derived from left ventricular volumes in all timeframes and brachial blood pressure from cuff sphygmomanometry.

Results

Fontan patients had lower stroke work, ventricular mechanical efficiency and external power compared to controls. Fontan patients with dominant right ventricle had higher potential energy indexed to body surface area but lower contractility (Ees) compared to controls. Fontan patients had higher arterial elastance (Ea) and Ea/Ees ratio than controls. Contractility showed no correlation with ejection fraction (EF) in Fontan patients irrespective of ventricular morphology. No difference was seen in energy per ejected volume between Fontan patients and controls.

Conclusions

This non-invasive PV-loop method could be used in future studies to show the potential prognostic value of these measures and if changes in ventricular function over time can be detected earlier by this method compared to changes in ventricular volumes and EF. In contrast to patients with acquired heart failure, Fontan patients had similar energy per ejected volume as controls which suggests similar ventricular oxygen consumption to deliver the same volume in Fontan patients as in controls.
Comprehensive assessment of holding urine as a behavioral risk factor for UTI in women and reasons for delayed voiding
Authors: Jagtap S. , Harikumar S. , Vinayagamoorthy V. , Mukhopadhyay S. , Dongre A.
Published: June 2022

Background

Women of reproductive age group have greater predilection to urinary tract infections (UTI). Various risk factors increase the prevalence in women. Emergence of multidrug resistant uropathogens make clinical management of UTI challenging. Here we assess holding of urine as risk factor of UTI in women and reasons for delayed voiding. We also investigate the relationship between frequency of UTIs and overall behavioural features, menstrual hygiene and attitude of women towards their own health issues.

Methods

A questionnaire based cross-sectional study was performed with 816 hostel residents with written consent. Self-reported data was statistically analysed using SPSS software. Urinalysis and urine culture were done for 50 women by random sampling to obtain the information on leading causative agents of UTI in the study population and their antimicrobial resistance profile.

Results

The prevalence of UTI among the participants without risk factors was found to be 27.5 (95% CI: 24.4–30.7). Attitude of women towards their own personal health issues and use of public toilets showed a correlation with prevalence of infection. Delay in urination on habitual basis was found to be associated with UTI. Uropathogens isolated by random sampling were resistant to multiple drugs that are generally used to treat UTI.

Conclusions

Holding urine for long time had proven to be an important risk factor and amongst different reasons of holding urine, holding due to poor sanitary condition of public toilets was the most common. Higher frequency of self-reported UTIs is related to holding of urine, behavioural features and attitude of women.
Ruptured peripheral superior cerebellar artery dissecting aneurysms associated with primitive trigeminal artery: a case report
Authors: Ito Sayaka , Higuchi Kazushi
Published: June 2022

Background

Persistent primitive trigeminal artery (PPTA) is a remnant of the carotid-vertebrobasilar anastomoses in the embryo. Although PPTAs are discovered incidentally in most cases, altered hemodynamics may lead to increased risk of stroke. To the best of our knowledge, no reports of PPTA associated with superior cerebellar artery (SCA) dissecting aneurysms have been published in the English language.

We describe the case of a patient who presented with subarachnoid hemorrhage (SAH) due to ruptured peripheral SCA dissecting aneurysms in association with PPTA. Additionally, we discuss the relationship between PPTA and peripheral SCA aneurysms and the treatment of peripheral SCA aneurysms.

Case presentation

A 43-year-old woman presented with acute onset of headache and nausea and admitted to our hospital. She was diagnosed with SAH due to ruptured left SCA dissecting aneurysm(s) and had undergone digital subtraction angiography. The left vertebral angiography showed aneurysmal dilatations of the left S2 segment (lateral pontomesencephalic segment) along with dissection through the segments of S2 and S3 (cerebellomesencephalic segment). It also showed ipsilateral PPTA. The left vertebral artery (VA) had normal caliber and the basilar artery segment proximal to the orifice of the left PPTA was not hypoplastic. The patient underwent proximal parent artery occlusion at the S2 segment via the left VA and was successfully treated with no neurological deficits having lasted 5 months.

Conclusions

The flow alteration with PPTA may have influenced the formation of SCA dissection in this patient. Further studies are needed to understand the etiology and treatment outcomes of peripheral SCA aneurysms better.
Characterization of the prevalence of excess weight in Brazil
Authors: Barancelli Marcia Domênica Cunico , Gazolla Marcio , Schneider Sergio
Published: June 2022

Introduction/Background

This work aims to analyse the prevalence of excess weight in Brazil to demonstrate the nutritional transition that is occurring. The data mobilized in the research are from the Food and Nutritional Surveillance System (FNSS).

Materials and methods

This study employed a quantitative approach from the FNSS online secondary data survey through reports of nutritional status in different phases of life (child, adolescent, adult, elderly and pregnant), in different macroregions of the country (South, Southeast, Midwest, Northeast and North) and with a 12-year historical series (2008 to 2019).

Results

In the adult life stage, there was a time trend of increasing excess weight in all regions of this historical series. The southern region of Brazil and the adult life stage had the highest national percentage of excess weight (69,1%) in 2019 and had the lowest percentage of eutrophy (29.3%) in the region in 2019. In the elderly life phase, in the South, Southeast and Midwest regions, excess weight was higher than the other outcomes in the time series, with the highest annual prevalence in the South region (58,6%) in 2019. In the adolescent life stage, there was a time trend of increasing excess weight in all regions, and excess weight had the highest prevalence in 2019 in the South (35,8%). The lowest prevalence rates of excess weight were in the following age groups: children aged 0 to <  2 years old and children aged 2 to <  5 years old. Additionally, it was in Group 5 to < 10 years old that the most critical prevalence of excess weight (35,07%) was found in 2018. However, malnutrition (low weight) persists, especially in the elderly and children. In the pregnancy life stage, there was a temporal trend of increase in excess weight in all regions, with higher percentages in 2019 in the South (53.5%) and Southeast (50.8%).

Conclusion

Excess weight has shown increasing time trends in the adolescent, adult, elderly and pregnant life stages in all regions of Brazil, suggesting that public FNS policymakers should be more assertive in the planning and management of programs and actions to reduce the percentages of diseases.
Causes of deaths in neonates and children aged 1–59 months in Nigeria: verbal autopsy findings of 2019 Verbal and Social Autopsy study
Authors: Odejimi Adeyinka , Quinley John , Eluwa George Ikechi , Kunnuji Michael , Wammanda Robinson Daniel , Weiss William , James Femi , Bello Mustapha , Ogunlewe Adenike , King Rebekah , Franca-Koh Ana Claudia
Published: June 2022

Background

Nigeria has one of the highest under-five mortality rates in the world. Identifying the causes of these deaths is crucial to inform changes in policy documents, design and implementation of appropriate interventions to reduce these deaths. This study aimed to provide national and zonal-level estimates of the causes of under-five death in Nigeria in the 2013–2018 periods.

Methods

We conducted retrospective inquiries into the cause of deaths of 948 neonates and 2,127 children aged 1–59 months as identified in the 2018 Nigeria Demographic and Health Survey (NDHS). The verbal autopsy asked about signs and symptoms during the final illness. The Physician Coded Verbal Autopsy (PCVA) and Expert Algorithm Verbal Autopsy (EAVA) methods were employed to assign the immediate and underlying cause of deaths to all cases.

Result

For the analysis, sampling weights were applied to accommodate non-proportional allocation. Boys accounted for 56 percent of neonatal deaths and 51.5 percent of the 1–59-months old deaths. About one-quarter of under-5 mortality was attributed to neonatal deaths, and 50 percent of these neonatal deaths were recorded within 48 h of delivery. Overall, 84 percent of the under-5 deaths were in the northern geopolitical zones. Based on the two methods for case analysis, neonatal infections (sepsis, pneumonia, and meningitis) were responsible for 44 percent of the neonatal deaths, followed by intrapartum injury (PCVA: 21 percent vs. EAVA: 29 percent). The three main causes of death in children aged 1–59 months were malaria (PCVA: 23 percent vs. EAVA: 35 percent), diarrhoea (PCVA: 17 percent vs. EAVA: 23 percent), and pneumonia (PCVA: 10 percent vs. EAVA: 12 percent). In the North West, where the majority of under-5 (1–59 months) deaths were recorded, diarrhoea was the main cause of death (PCVA: 24.3 percent vs. EAVA: 30 percent).

Conclusion

The causes of neonatal and children aged 1–59 months deaths vary across the northern and southern regions. By homing on the specific causes of mortality by region, the study provides crucial information that may be useful in planning appropriately tailored interventions to significantly reduce under-five deaths in Nigeria.
Patient registries in orthopedics and orthobiologic procedures: a narrative review
Authors: Magaway Cedric Lester , Malanga Gerard
Published: June 2022

There has been increasing evidence and growing popularity of orthobiologic treatments, such as platelet-rich plasma, bone marrow aspirate concentrate, and microfragmented adipose tissue. However, real-world data, including patient-reported pain and function outcomes, remains sparse for these procedures. Thus, collecting patient-reported outcome measures is important to evaluate the safety and efficacy of these treatments and hopefully improve patient care. Patient reported outcome measures can systematically be collected through patient registries. This narrative review serves to describe the data collection platforms and registries that obtain patient-reported outcome measures on orthobiologic procedures and provide a discussion on the benefits and limitations of registries. An internet search of the list of orthopedic registries available was conducted, and registries that collect patient-reported outcome measures for orthobiologic procedures were identified. Additional information regarding these various registries was collected by directly contacting these vendors. Publications from these registries, including case series, observational studies, and annual reports, were also reviewed. Providing this review will inform clinicians of a digital tool that can increase the efficiency of collecting outcome measures for orthobiologics and aid physicians in choosing a data collection platform.
Comparison of oral hypofunction tests and determination of reference values for a subjective masticatory function test
Authors: Uchida Yoshiki , Sato Yuji , Kitagawa Noboru , Furuya Junichi , Osawa Tokiko , Isobe Akio , Terazawa Mayumi , Hatanaka Yukiko , Shichita Toshiharu
Published: June 2022

Background

In Japan, oral hypofunction has been recognized as a disease since 2018. An alternative to occlusal force testing for assessing oral hypofunction is the evaluation of the number of natural teeth. Subjective masticatory function testing, which evaluates the ease or difficulty in chewing foods, is an effective alternative to occlusal force testing. However, no reference values have been established for this test. We determined the reference values of the subjective masticatory function test and evaluated its potential as a substitute for the number of natural teeth for assessing oral hypofunction.

Methods

The sample consisted of 184 older adults who visited the Department of Geriatric Dentistry, Showa University Dental Hospital, from July 2018 to January 2020. The subjective masticatory function test (table for evaluation of chewing function in complete denture wearers [Chewing Score 20]) was performed using 20 foods. The occlusal force test and a receiver operating characteristic curve were used to determine the reference values for Chewing Score 20. The sensitivity, specificity, and positive and negative predictive values were calculated and compared with the occlusal force test and the number of natural teeth.

Results

A significant correlation (r) was found between the occlusal force test and the Chewing Score 20 (r = 0.526, p < 0.001). The reference value for Chewing Score 20 was < 85. Although the Chewing Score 20 was less sensitive than the number of natural teeth, it demonstrated a higher specificity and a positive predictive value.

Conclusion

Herein, a score of < 85 on the subjective masticatory function test was determined to be the optimal quantitative reference. The subjective masticatory function test may be used as an alternative for assessing oral hypofunction.
Interprofessional continuing professional development programs can foster lifelong learning in healthcare professionals: experiences from the Project ECHO model
Authors: Sockalingam Sanjeev , Rajaratnam Thiyake , Gambin Amanda , Soklaridis Sophie , Serhal Eva , Crawford Allison
Published: June 2022

Background

The success of continuing professional development (CPD) programs that foster skills in lifelong learning (LLL) has been well established. However, healthcare professionals often report barriers such as access to CPD and cost which limit uptake. Further research is required to assess how accessible CPD programs, such as those delivered virtually, impact orientation to LLL. Project Extension for Community Healthcare Outcomes (Project ECHO®) is a CPD model that has a growing body of evidence demonstrating improvements in knowledge and skills. Central to this model is the use of a virtual platform, varied teaching approaches, the promotion of multi-directional learning and provider support through a community of practice. This study aimed to explore whether participation in a provincial mental health ECHO program had an effect on interprofessional healthcare providers’ orientation to LLL.

Methods

Using a pre-post design, orientation to LLL was measured using the Jefferson Scale of Lifelong Learning. Eligible participants were healthcare professionals enrolled in a cycle of ECHO Ontario Mental Health from 2017 to 2020. Participants were classified as ‘high’ or ‘low’ users using median session attendance as a cut-point.

Results

The results demonstrate an increase in orientation to LLL following program participation (Pre: 44.64 ± 5.57 vs. Post: 45.94 ± 5.70, t (66) = − 3.023, p < .01, Cohen’s d = 0.37), with high ECHO users demonstrating greater orientation to LLL post-ECHO.

Conclusion

Findings are discussed in the context of self-determination theory and suggest there may be components of CPD programs that more readily support increased motivation for LLL for interprofessional healthcare professionals.
A comprehensive eHealth implementation guide constructed on a qualitative case study on barriers and facilitators of the digital care platform CMyLife
Authors: Verweij Lynn , Smit Yolba , Blijlevens Nicole MA , Hermens Rosella PMG
Published: June 2022

Background

Substantial proliferation of eHealth has enabled a move in patient-centred cancer care from the traditional in-person care model to real-time, dynamic, and technology supported on-demand care. However, in general, the uptake of these innovations is low. Studies show that eHealth is helpful in providing patient empowerment through e.g. providing high quality and timely information, enabling self-monitoring and shared decision making, but dropout rates are high and guidance for optimal implementation is lacking.

Aim

To explore barriers to and facilitators for nationwide implementation and consolidation of CMyLife, a multi-component, patient-centred, digital care platform, and to construct a comprehensive implementation guide for launching digital care platforms in daily clinical practice.

Methods

The first qualitative case study of a digital care platform like CMyLife was performed including five focus group- and eighteen in-depth interviews with stakeholders. Data were collected using a semi-structured interview guide, based on the frameworks of Grol and Flottorp. Transcripts of the interviews were analysed and barriers and facilitators were identified and categorized according to the frameworks. An iterative process including participation of main stakeholders and using the CFIR-ERIC framework led to creating a comprehensive implementation guide for digital care platforms.

Results

In total, 45 barriers and 41 facilitators were identified. Main barriers were lack of connectivity between information technology systems, changing role for both health care providers and patients, insufficient time and resources, doubts about privacy and security of data, and insufficient digital skills of users. Main facilitators mentioned were motivating patients and health care providers by clarifying the added value of use of a digital care platform, clear business case with vision, demonstrating (cost) effectiveness, using an implementation guide, and educating patients and health care providers about how to use CMyLife. Based on these barriers and facilitators a clear and comprehensive implementation guide was developed for digital care platforms.

Conclusion

Several barriers to and facilitators for implementation were identified, a clear overview was presented, and a unique comprehensive implementation guide was developed for launching future digital care platforms in daily clinical practice. The next step is to validate the implementation guide in other (oncological) diseases.
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
Authors: Dai Jincheng , Zeng Jun , Tan Hongxi , Cai Xiangsheng , Wu Benqing
Published: June 2022

Background

The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.

Case presentation

This case study describes a 4-month-old child with growth and psychomotor retardation, auricle deformity, microcephaly, polydactyly, a heart abnormality, and feeding difficulties. An approximately 12.00 MB deletion was detected in the 8p11.22-p21.2 region of chromosome 8. After sequencing, we found that 65 protein genes had been deleted, including FGFR1, which resulted in Kallmann syndrome. There was no deletion of the ANK1 gene associated with spherocytosis, consistent with the phenotype.

Conclusion

This patient is a new case of short arm deletion of chromosome 8, resulting in novel and previously unreported clinical features.
The role of Toll-like receptors and neuroinflammation in Parkinson’s disease
Authors: Heidari Arash , Yazdanpanah Niloufar , Rezaei Nima
Published: June 2022

Background

Parkinson’s disease (PD) is the second most prevalent neurodegenerative disorder, characterized by motor and non-motor symptoms, significantly affecting patients’ life. Pathologically, PD is associated with the extensive degeneration of dopaminergic neurons in various regions of the central nervous system (CNS), specifically the substantia nigra. This neuronal loss is accompanied by the aggregation of misfolded protein, named α-synuclein.

Main text

Recent studies detected several clues of neuroinflammation in PD samples using postmortem human PD brains and various PD animal models. Some evidence of neuroinflammation in PD patients included higher levels of proinflammatory cytokines in serum and cerebrospinal fluid (CSF), presence of activated microglia in various brain regions such as substantia nigra, infiltration of peripheral inflammatory cells in affected brain regions, and altered function of cellular immunity like monocytes phagocytosis defects. On the other side, Toll-like receptors (TLRs) are innate immune receptors primarily located on microglia, as well as other immune and non-immune cells, expressing pivotal roles in recognizing exogenous and endogenous stimuli and triggering inflammatory responses. Most studies indicated an increased expression of TLRs in the brain and peripheral blood cells of PD samples. Besides, this upregulation was associated with excessive neuroinflammation followed by neurodegeneration in affected regions. Therefore, evidence proposed that TLR-mediated neuroinflammation might lead to a dopaminergic neural loss in PD patients. In this regard, TLR2, TLR4, and TLR9 have the most prominent roles.

Conclusion

Although the presence of inflammation in acute phases of PD might have protective effects concerning the clearance of α-synuclein and delaying the disease advancement, the chronic activation of TLRs and neuroinflammation might lead to neurodegeneration, resulting in the disease progression. Therefore, this study aimed to review additional evidence of the contribution of TLRs and neuroinflammation to PD pathogenesis, with the hope that TLRs could serve as novel disease-modifying therapeutic targets in PD patients in the future.
X-ray driven peanut trait estimation: computer vision aided agri-system transformation
Authors: Domhoefer Martha , Chakraborty Debarati , Hufnagel Eva , Claußen Joelle , Wörlein Norbert , Voorhaar Marijn , Anbazhagan Krithika , Choudhary Sunita , Pasupuleti Janila , Baddam Rekha , Kholova Jana , Gerth Stefan
Published: June 2022

Background

In India, raw peanuts are obtained by aggregators from smallholder farms in the form of whole pods and the price is based on a manual estimation of basic peanut pod and kernel characteristics. These methods of raw produce evaluation are slow and can result in procurement irregularities. The procurement delays combined with the lack of storage facilities lead to fungal contaminations and pose a serious threat to food safety in many regions. To address this gap, we investigated whether X-ray technology could be used for the rapid assessment of the key peanut qualities that are important for price estimation.

Results

We generated 1752 individual peanut pod 2D X-ray projections using a computed tomography (CT) system (CTportable160.90). Out of these projections we predicted the kernel weight and shell weight, which are important indicators of the produce price. Two methods for the feature prediction were tested: (i) X-ray image transformation (XRT) and (ii) a trained convolutional neural network (CNN). The prediction power of these methods was tested against the gravimetric measurements of kernel weight and shell weight in diverse peanut pod varieties1. Both methods predicted the kernel mass with R2 > 0.93 (XRT: R2 = 0.93 and mean error estimate (MAE) = 0.17, CNN: R2 = 0.95 and MAE = 0.14). While the shell weight was predicted more accurately by CNN (R2 = 0.91, MAE = 0.09) compared to XRT (R2 = 0.78; MAE = 0.08).

Conclusion

Our study demonstrated that the X-ray based system is a relevant technology option for the estimation of key peanut produce indicators (Figure 1). The obtained results justify further research to adapt the existing X-ray system for the rapid, accurate and objective peanut procurement process. Fast and accurate estimates of produce value are a necessary pre-requisite to avoid post-harvest losses due to fungal contamination and, at the same time, allow the fair payment to farmers. Additionally, the same technology could also assist crop improvement programs in selecting and developing peanut cultivars with enhanced economic value in a high-throughput manner by skipping the shelling of the pods completely.

This study demonstrated the technical feasibility of the approach and is a first step to realize a technology-driven peanut production system transformation of the future.
Beyond the pill: contraception and the prevention of hereditary ovarian cancer
Authors: Xia Yue Yin , Kotsopoulos Joanne
Published: June 2022

BRCA1 and BRCA2 mutation carriers face an elevated lifetime risk of developing ovarian cancer. Oral contraceptives have been shown to significantly decrease the risk of ovarian cancer by approximately 50% in this high-risk population. Changes in contraceptive formulations and patterns of use over time have introduced lower hormonal dosages, different steroid types and non-oral routes of administration. Specifically, there has been a considerable shift in patterns of contraceptive use and the increase in the uptake of non-oral, long-acting, reversible contraception (e.g., intrauterine devices, implants, injections) has corresponded to a decline in oral contraceptive pill use. Whether or not these other methods confer a protective effect against ovarian cancer in the general population is not clear. To our knowledge, there have been no such studies conducted among BRCA mutation carriers. Furthermore, the impact of these changes on the risk of developing ovarian cancer is not known. In this article, we will review the existing epidemiologic evidence regarding the role of contraceptives and the risk of ovarian cancer with a focus on women with a BRCA1 or BRCA2 mutation. We will discuss recent findings and gaps in the knowledge while extrapolating from studies conducted among women from the noncarrier population.
The efficacy and safety of acupuncture and nicotine replacement therapy for smoking cessation: study protocol for a randomized controlled trial
Authors: Wang Qingsheng , Dai Runjing , Zhang Hailiang , Jiang Xiaomei , Ma Xiaojing , Zhang Xiangrong , Bao Shisan , Ren Dong , Fan Jingchun
Published: June 2022

Introduction

Tobacco hazard is one of the most serious public health problems, accounting for up to 6 million deaths worldwide p.a. We aim to determine the efficacy and safety of acupuncture and/or nicotine replacement therapy on smoking cessation.

Methods

We will recruit 96 participants who are willing to quit smoking by acupuncture and/or nicotine replacement therapy in Chengguan, Xigu and Heping Districts, Lanzhou city, for multicenter randomized, double-blind, double-dummy controlled clinical trial. Following obtained the informed consent forms, all eligible participants will be randomly divided into 4 groups: (1) acupuncture combined with nicotine patch, (2) acupuncture combined with sham nicotine patch, (3) sham acupuncture combined with nicotine patch, and (4) sham acupuncture combined with sham nicotine patch. These participants will be treated with different intervention modalities for 8 weeks and then will be followed-up for 8 weeks. The SPSS 26.0 software will be applied to analyze the clinical effects and adverse reactions of different intervention measures for smoking cessation.

Discussion

This trial is a prospective, pragmatic, randomized, multicenter trial study protocol. The outcomes will illustrate the efficacy and safety of acupuncture and/or nicotine patches for smoking cessation. Provide smokers with a superior smoking cessation program.

Trial registration

Chinese Clinical Trial Registry ChiCTR2100042912. Registered on January 31, 2021.
Seropositivity of main vector-borne pathogens in dogs across Europe
Authors: Miró Guadalupe , Wright Ian , Michael Helen , Burton Wade , Hegarty Evan , Rodón Jaume , Buch Jesse , Pantchev Nikola , von Samson-Himmelstjerna Georg
Published: June 2022

Background

Canine vector-borne disease (CVBD) has been an area of increasing interest in Europe over the last few decades, and there have been changes in the prevalence and distribution of many of these diseases. Monitoring CVBD infections in Europe is often done by individual countries, but aggregated data for the European countries are helpful to understand the distribution of CVBDs.

Methods

We used an extensive retrospective database of results from point-of-care rapid enzyme-linked immunosorbent assay (ELISA) tests on dogs across Europe to identify distribution and seropositivity in animals tested for selected CVBDs (Anaplasma spp., Ehrlichia spp., Borrelia burgdorferi, Leishmania spp., and Dirofilaria immitis) from 2016 through 2020. Geographic distribution of positive tests and relative percent positive values were mapped by the Nomenclature of Territorial Units for Statistics classification for regions with sufficient test results for reporting.

Results

A total of 404,617 samples corresponding to 1,134,648 canine results were available from dogs tested in 35 countries over the 5-year study period. Over this period the number of test results per year increased whereas test positivity decreased. Leishmania spp. had the largest increase in total test results from 25,000 results in 2016 to over 60,000 results in 2020. Test positivity for Leishmania spp. fell from 13.9% in 2016 to 9.4% in 2020. Test positivity fell for Anaplasma spp. (7.3 to 5.3%), Ehrlichia spp. (4.3 to 3.4%), and Borrelia burgdorferi (3.3 to 2.4%). Dirofilaria immitis test positivity trended down with a high of 2.7% in 2016 and low of 1.8% in 2018. Leishmania spp. test positivity was highest in endemic areas and in several non-endemic countries with low numbers of test results. Co-positivity rates were significantly higher than expected for all pathogen test positive pairs except for Ehrlichia spp. with Borrelia burgdorferi and D. immitis with Borrelia burgdorferi.

Conclusions

This study represents the largest data set on CVBD seropositivity in Europe to date. The increase in the number of test results and decreasing test positivity over the study period may reflect changes in testing behavior and increased screening of healthy animals. The Europe-wide mapping of CVBD provides expected test positivity that can help inform veterinarians’ decisions on screening and improve prevention and identification of these important, sometimes zoonotic, diseases.

Graphical Abstract
Quantifying sodium [18F]fluoride uptake in abdominal aortic aneurysms
Authors: Debono Samuel , Nash Jennifer , Fletcher Alexander J. , Syed Maaz B. J. , Semple Scott I. , van Beek Edwin J. R. , Fletcher Alison , Cadet Sebastien , Williams Michelle C. , Dey Damini , Slomka Piotr J. , Forsythe Rachael O. , Dweck Marc R. , Newby David E.
Published: June 2022

Background

Aortic microcalcification activity is a recently described method of measuring aortic sodium [18F]fluoride uptake in the thoracic aorta on positron emission tomography. In this study, we aimed to compare and to modify this method for use within the infrarenal aorta of patients with abdominal aortic aneurysms.

Methods

Twenty-five patients with abdominal aortic aneurysms underwent an sodium [18F]fluoride positron emission tomography and computed tomography scan. Maximum and mean tissue-to-background ratios (TBR) and abdominal aortic microcalcification activity were determined following application of a thresholding and variable radius method to correct for vertebral sodium [18F]fluoride signal spill-over and the nonlinear changes in aortic diameter, respectively. Agreement between the methods, and repeatability of these approaches were assessed.

Results

The aortic microcalcification activity method was much quicker to perform than the TBR method (14 versus 40 min, p < 0.001). There was moderate-to-good agreement between TBR and aortic microcalcification activity measurements for maximum (interclass correlation co-efficient, 0.67) and mean (interclass correlation co-efficient, 0.88) values. These correlations sequentially improved with the application of thresholding (intraclass correlation coefficient 0.93, 95% confidence interval 0.89–0.95) and variable diameter (intraclass correlation coefficient 0.97, 95% confidence interval 0.94–0.99) techniques. The optimised method had good intra-observer (mean 1.57 ± 0.42, bias 0.08, co-efficient of repeatability 0.36 and limits of agreement − 0.43 to 0.43) and inter-observer (mean 1.57 ± 0.42, bias 0.08, co-efficient of repeatability 0.47 and limits of agreement − 0.53 to 0.53) repeatability.

Conclusions

Aortic microcalcification activity is a quick and simple method which demonstrates good intra-observer and inter-observer repeatabilities and provides measures of sodium [18F]fluoride uptake that are comparable to established methods.
Single-cell RNA sequencing of mitotic-arrested prospermatogonia with DAZL::GFP chickens and revealing unique epigenetic reprogramming of chickens
Authors: Choi Hyeon Jeong , Jung Kyung Min , Rengaraj Deivendran , Lee Kyung Youn , Yoo Eunhui , Kim Tae Hyun , Han Jae Yong
Published: June 2022

Background

Germ cell mitotic arrest is conserved in many vertebrates, including birds, although the time of entry or exit into quiescence phase differs. Mitotic arrest is essential for the normal differentiation of male germ cells into spermatogonia and accompanies epigenetic reprogramming and meiosis inhibition from embryonic development to post-hatch. However, mitotic arrest was not well studied in chickens because of the difficulty in obtaining pure germ cells from relevant developmental stage.

Results

We performed single-cell RNA sequencing to investigate transcriptional dynamics of male germ cells during mitotic arrest in DAZL::GFP chickens. Using differentially expressed gene analysis and K-means clustering to analyze cells at different developmental stages (E12, E16, and hatch), we found that metabolic and signaling pathways were regulated, and that the epigenome was reprogrammed during mitotic arrest. In particular, we found that histone H3K9 and H3K14 acetylation (by HDAC2) and DNA demethylation (by DNMT3B and HELLS) led to a transcriptionally permissive chromatin state. Furthermore, we found that global DNA demethylation occurred gradually after the onset of mitotic arrest, indicating that the epigenetic-reprogramming schedule of the chicken genome differs from that of the mammalian genome. DNA hypomethylation persisted after hatching, and methylation was slowly re-established 3 weeks later.

Conclusions

We found a unique epigenetic-reprogramming schedule of mitotic-arrested chicken prospermatogonia and prolonged hypomethylation after hatching. This will provide a foundation for understanding the process of germ-cell epigenetic regulation in several species for which this process is not clearly described. Our findings on the biological processes related to sex-specific differentiation of prospermatogonia could help studying germline development in vitro more elaborately.
Developing a desktop application for drug-drug interaction checker ordered for chronic diseases in Ethiopian hospitals pharmacy
Authors: Lingaiah Thamineni Bheema , Belay Yibeltal Andarge , Dese Kokeb
Published: June 2022

Background

Drug-drug interactions are a major cause of morbidity worldwide and are a leading source of treatment inefficacy. They are classified based on their pharmacological action on the body as major, moderate, and minor. Currently, it is a tedious process to remember the drug-drug interactions by the pharmacist during dispensing of the prescribed drugs for the patients. Therefore, there is a need for technology that assists the pharmacist in checking the drug-drug interaction for prescribed drugs. Therefore, in this work, a desktop-based application that can automatically identify the drug-drug interactions for prescribed drugs that could operate offline for those found in low-resource setting hospitals has been developed. To do this, around 3000 drugs along with their major and moderate interaction points were collected from Ethiopian Pharmaceutical Supply Agency. The developed system included two main parts; the database part that comprises all the drugs collected along with their major and moderate interaction points, and a patient registration platform to register the patients' history. The system was developed by using C sharp programing language.

Results

The developed system has both drug-drug interaction checking as well as patient registration platform. Registration of the patient’s history will be done by the pharmacist and during dispensing of the drugs to the patient, the developed system will check the interaction between the drugs prescribed. The system was tested to operate the above functions, and finally, it was able to display the major and moderate interaction points of all inserted drugs automatically and accurately. For those drugs which have no either major or moderate interaction, the system was displayed as ‘unknown’.

Conclusions

The developed system assisted the pharmacist in knowing the drug-drug interaction, and enabled the patients for the resubscription of drugs with the same functional. The system would help to increase the efficiency of the pharmacist in low resource settings to do their tasks without any difficulty, and tiredness. In the future, it is recommended to include all drugs for all disease types rather than focusing only on chronic disease drugs.