bluuebunny/crossref_metadata_2025 huggingface dataset:
Genetic insights into PHARC syndrome: identification of a novel frameshift mutation in ABHD12
Authors: Daneshi Ahmad , Garshasbi Masoud , Farhadi Mohammad , Falavarjani Khalil Ghasemi , Vafaee-Shahi Mohammad , Almadani Navid , Zabihi MohammadSina , Ghalavand Mohammad Amin , Falah Masoumeh
Published: October 2023

Background

Mutations in ABHD12 (OMIM: 613,599) are associated with polyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC) syndrome (OMIM: 612674), which is a rare autosomal recessive neurodegenerative disease. PHARC syndrome is easily misdiagnosed as other neurologic disorders, such as retinitis pigmentosa, Charcot-Marie-Tooth disease, and Refsum disease, due to phenotype variability and slow progression. This paper presents a novel mutation in ABHD12 in two affected siblings with PHARC syndrome phenotypes. In addition, we summarize genotype-phenotype information of the previously reported patients with ABHD12 mutation.

Methods

Following a thorough medical evaluation, whole-exome sequencing was done on the proband to look for potential genetic causes. This was followed by confirmation of identified variant in the proband and segregation analysis in the family by Sanger sequencing. The variants were interpreted based on the American College of Medical Genetics and Genomics (ACMG) guidelines.

Results

A novel pathogenic homozygous frameshift variant, NM_001042472.3:c.601dup, p.(Val201GlyfsTer4), was identified in exon 6 of ABHD12 (ACMG criteria: PVS1 and PM2, PM1, PM4, PP3, and PP4). Through Sanger sequencing, we showed that this variant is co-segregated with the disease in the family. Further medical evaluations confirmed the compatibility of the patients’ phenotype with PHARC syndrome.

Conclusions

Our findings expand the spectrum of mutations in the ABHD12 and emphasize the significance of multidisciplinary diagnostic collaboration among clinicians and geneticists to solve the differential diagnosis of related disorders. Moreover, a summary based on mutations found so far in the ABHD12 gene did not suggest a clear genotype-phenotype correlation for PHARC syndrome.
Development of engineered Candida tropicalis strain for efficient corncob-based xylitol-ethanol biorefinery
Authors: Singh Anup Kumar , Deeba Farha , Kumar Mohit , Kumari Sonam , Wani Shahid Ali , Paul Tanushree , Gaur Naseem A.
Published: October 2023

Background

Xylitol has a wide range of applications in the pharmaceuticals, cosmetic, food and beverage industry. Microbial xylitol production reduces the risk of contamination and is considered as environment friendly and sustainable compared to the chemical method. In this study, random mutagenesis and genetic engineering approaches were employed to develop Candida tropicalis strains with reduced xylitol dehydrogenase (XDH) activity to eliminate co-substrate requirement for corn cob-based xylitol-ethanol biorefinery.

Results

The results suggest that when pure xylose (10% w/v) was fermented in bioreactor, the Ethyl methane sulfonate (EMS) mutated strain (C. tropicalis K2M) showed 9.2% and XYL2 heterozygous (XYL2/xyl2Δ::FRT) strain (C. tropicalis K21D) showed 16% improvement in xylitol production compared to parental strain (C. tropicalis K2). Furthermore, 1.5-fold improvement (88.62 g/L to 132 g/L) in xylitol production was achieved by C. tropicalis K21D after Response Surface Methodology (RSM) and one factor at a time (OFAT) applied for media component optimization. Finally, corncob hydrolysate was tested for xylitol production in biorefinery mode, which leads to the production of 32.6 g/L xylitol from hemicellulosic fraction, 32.0 g/L ethanol from cellulosic fraction and 13.0 g/L animal feed.

Conclusions

This work, for the first time, illustrates the potential of C. tropicalis K21D as a microbial cell factory for efficient production of xylitol and ethanol via an integrated biorefinery framework by utilising lignocellulosic biomass with minimum waste generation.
Statistical optimization of waste molasses-based exopolysaccharides and self-sustainable bioelectricity production for dual chamber microbial fuel cell by Bacillus piscis
Authors: Sakr Ebtehag A. E. , Khater Dena Z. , Kheiralla Zeinab M. H. , El‑khatib Kamel M.
Published: October 2023

Background

The application of exopolysaccharide-producing bacteria (EPS) in dual chamber microbial fuel cells (DCMFC) is critical which can minimize the chemical oxygen demand (COD) of molasses with bioelectricity production. Hence, our study aimed to evaluate the EPS production by the novel strain Bacillus piscis by using molasses waste. Therefore, statistical modeling was used to optimize the EPS production. Its structure was characterized by UV, FTIR, NMR, and monosaccharides compositions. Eventually, to highlight B. piscis' adaptability in energy applications, bioelectricity production by this organism was studied in the BCMFC fed by an optimized molasses medium.

Results

B. piscis OK324045 characterized by 16S rRNA is a potent EPS-forming organism and yielded a 6.42-fold increase upon supplementation of molasses (5%), MgSO4 (0.05%), and inoculum size (4%). The novel exopolysaccharide produced by Bacillus sp. (EPS-BP5M) was confirmed by the structural analysis. The findings indicated that the MFC's maximum close circuit voltage (CCV) was 265 mV. The strain enhanced the performance of DCMFC achieving maximum power density (PD) of 31.98 mW m−2, COD removal rate of 90.91%, and color removal of 27.68%. Furthermore, cyclic voltammetry (CV) revealed that anodic biofilms may directly transfer electrons to anodes without the use of external redox mediators. Additionally, CV measurements made at various sweep scan rates to evaluate the kinetic studies showed that the electron charge transfer was irreversible. The SEM images showed the biofilm growth distributed over the electrode’s surface.

Conclusions

This study offers a novel B. piscis strain for EPS-BP5M production, COD removal, decolorization, and electricity generation of the optimized molasses medium in MFCs. The biosynthesis of EPS-BP5M by a Bacillus piscis strain and its electrochemical activity has never been documented before. The approach adopted will provide significant benefits to sugar industries by generating bioelectricity using molasses as fuel and providing a viable way to improve molasses wastewater treatment.
Increasing prevalence of malaria and acute dengue virus coinfection in Africa: a meta-analysis and meta-regression of cross-sectional studies
Authors: Gebremariam Tewelde T. , Schallig Henk D. F. H. , Kurmane Zeleke M. , Danquah Jonas B.
Published: October 2023

Background

Malaria and dengue fever are the leading causes of acute, undifferentiated febrile illness. In Africa, misdiagnosis of dengue fever as malaria is a common scenario. Through a systematic review of the published literature, this study seeks to estimate the prevalence of dengue and malaria coinfection among acute undifferentiated febrile diseases in Africa.

Methods

Relevant publications were systematically searched in the PubMed, Cochrane Library, and Google Scholar until May 19, 2023. A random-effects meta-analysis and meta-regression were used to summarize and examine the prevalence estimates.

Results

Twenty-two studies with 22,803 acute undifferentiated febrile patients from 10 countries in Africa were included. The meta-analysis findings revealed a pooled prevalence of malaria and dengue coinfection of 4.2%, with Central Africa having the highest rate (4.7%), followed by East Africa (2.7%) and West Africa (1.6%). Continent-wide, Plasmodium falciparum and acute dengue virus coinfection prevalence increased significantly from 0.9% during 2008–2013 to 3.8% during 2014–2017 and to 5.5% during 2018–2021 (p = 0.0414).

Conclusion

There was a high and increasing prevalence of malaria and acute dengue virus coinfection in Africa. Healthcare workers should bear in mind the possibility of dengue infection as a differential diagnosis for acute febrile illness, as well as the possibility of coexisting malaria and dengue in endemic areas. In addition, high-quality multicentre studies are required to verify the above conclusions.

Protocol registration number: CRD42022311301.
Bone mineral density saturation as influenced by the visceral adiposity index in adults older than 20 years: a population-based study
Authors: Chen Zi-hao , Zhou Ting-feng , Bu Yi-tian , Yang Lei
Published: October 2023

Objective

The goal of this research was to determine whether or not there is a saturation effect and whether or not the visceral adiposity index (VAI) correlates with bone mineral density (BMD) in adult Americans.

Methods

This study used multivariate logistic regression models to examine the association between VAI and total femur BMD, drawing on the most up-to-date data from the National Health and Nutrition Examination Survey (NHANES) between 2007 and 2018. Saturation levels and non-linear connections were calculated using a smooth curve-fitting algorithm and an investigation of saturation effects. Subgroup analyses and interaction tests were also conducted.

Results

This study ultimately recruited 6257 individuals aged 20 years or older. According to multivariate regression analysis, those with high VAI scores exhibited higher total femur BMD. Total femur BMD was greater in the highest VAI quartile (Q4: 0.060 g/cm2) after adjustment than in the lowest VAI quartile (Q1) (P < 0.05). After controlling for variables, subgroup analysis failed to reveal any significant interaction effects. Furthermore, the study determined that VAI and BMD exhibited a specific saturation effect through the investigation of the saturation effect and the fitting of smooth curves. Saturation effect investigation of total femur BMD using VAI revealed a saturation value of 3.3.

Conclusion

The present study uncovered a non-linear relationship between VAI and total femur BMD, which exhibited a saturation effect.
Influence of chlorpyrifos exposure on UVB irradiation induced toxicity in human skin cells
Authors: Sawicki Krzysztof , Matysiak-Kucharek Magdalena , Kruszewski Marcin , Wojtyła-Buciora Paulina , Kapka-Skrzypczak Lucyna
Published: October 2023

Background

Although chlorpyrifos (CPS) has been banned in many developed countries, it still remains one of the best-selling pesticides in the world. Widespread environmental and occupational exposure to CPS pose a serious risk to human health. Another environmental factor that can adversely affect human health is ultraviolet radiation B (UVB, 280–315 nm wave length). Here we attempt determine if exposure to CPS can modify toxic effects of UVB. Such situation might be a common phenomenon in agriculture workers, where exposure to both factors takes place.

Methods

Two skin cell lines; namely human immortalized keratinocytes HaCaT and BJ human fibroblasts were used in this study. Cytotoxicity was investigated using a cell membrane damage detection assay (LDH Cytotoxicity Assay), a DNA damage detection assay (Comet Assay), an apoptosis induction detection assay (Apo-ONE Homogeneous Caspase-3/7 Assay) and a cell reactive oxygen species detection assay (ROS-Glo H2O2 assay). Cytokine IL-6 production was also measured in cells using an ELISA IL-6 Assay.

Results

Pre-incubation of skin cells with CPS significantly increased UVB-induced toxicity at the highest UVB doses (15 and 20 mJ/cm2). Also pre-exposure of BJ cells to CPS significantly increased the level of DNA damage, except for 20 mJ/cm2 UVB. In contrast, pre-exposure of HaCaT cells, to CPS prior to UVB radiation did not cause any significant changes. A decrease in caspase 3/7 activity was observed in HaCaT cells pre-exposed to 250 µM CPS and 5 mJ/cm2 UVB. Meanwhile, no statistically significant changes were observed in fibroblasts. In HaCaT cells, pre-exposure to CPS resulted in a statistically significant increase in ROS production. Also, in BJ cells, similar results were obtained except for 20 mJ/cm2. Interestingly, CPS seems to inhibited IL-6 production in HaCaT and BJ cells exposed to UVB (in the case of HaCaT cells for all UVB doses, while for BJ cells only at 15 and 20 mJ/cm2).

Conclusions

In conclusion, the present study indicates that CPS may contribute to the increased UVB-induced toxicity in skin cells, which was likely due to the induction of ROS formation along with the generation of DNA damage. However, further studies are required to gain better understanding of the mechanisms involved.
Online adaptive radiotherapy for bladder cancer using a simultaneous integrated boost and fiducial markers
Authors: Azzarouali Sana , Goudschaal Karin , Visser Jorrit , Hulshof Maarten , Admiraal Marjan , van Wieringen Niek , Nieuwenhuijzen Jakko , Wiersma Jan , Daniëls Laurien , den Boer Duncan , Bel Arjan
Published: October 2023

Purpose

The aim was to assess the feasibility of online adaptive radiotherapy (oART) for bladder cancer using a focal boost by focusing on the quality of the online treatment plan and automatic target delineation, duration of the workflow and performance in the presence of fiducial markers for tumor bed localization.

Methods

Fifteen patients with muscle invasive bladder cancer received daily oART with Cone Beam CT (CBCT), artificial intelligence (AI)-assisted automatic delineation of the daily anatomy and online plan reoptimization. The bladder and pelvic lymph nodes received a total dose of 40 Gy in 20 fractions, the tumor received an additional simultaneously integrated boost (SIB) of 15 Gy. The dose distribution of the reference plan was calculated for the daily anatomy, i.e. the scheduled plan. Simultaneously, a reoptimization of the plan was performed i.e. the adaptive plan. The target coverage and V95% outside the target were evaluated for both plans. The need for manual adjustments of the GTV delineation, the duration of the workflow and the influence of fiducial markers were assessed.

Results

All 300 adaptive plans met the requirement of the CTV-coverage V95%≥98% for both the boost (55 Gy) and elective volume (40 Gy). For the scheduled plans the CTV-coverage was 53.5% and 98.5%, respectively. Significantly less tissue outside the targets received 55 Gy in case of the adaptive plans as compared to the scheduled plans. Manual corrections of the GTV were performed in 67% of the sessions. In 96% of these corrections the GTV was enlarged and resulted in a median improvement of 1% for the target coverage. The median on-couch time was 22 min. A third of the session time consisted of reoptimization of the treatment plan. Fiducial markers were visible on the CBCTs and aided the tumor localization.

Conclusions

AI-driven CBCT-guided oART aided by fiducial markers is feasible for bladder cancer radiotherapy treatment including a SIB. The quality of the adaptive plans met the clinical requirements and fiducial markers were visible enabling consistent daily tumor localization. Improved automatic delineation to lower the need for manual corrections and faster reoptimization would result in shorter session time.
Exploring the structure of the shot effectiveness model for elite table tennis players
Authors: Yang Qing , Li Mu-zi , Zhou Zheng , Zhang Hui
Published: October 2023

Background

Currently, technical and tactical analysis has become an indispensable task for sport in many countries. Many studies analysed players’ specific technical and tactical factors, but it is rare to quantitatively analyse the importance of table tennis players’ shot effectiveness. This is the first study to propose the new concept of “shot effectiveness model”, and the purpose of this study is to explore the structure of the shot effectiveness model for elite table tennis, including the importance degree of shot effectiveness, and the relationship between them.

Methods

258 matches were selected between the top 50 players in the world from 2019 to 2021 as samples. Multiple regression analysis was used to obtain the standard regression coefficients and game simulation, and the total decision coefficient (TDC) was used to evaluate the importance degrees of shot effectiveness (SE) on match results.

Results

(1) There was little difference in the importance degree of each shot effectiveness between men and women players. (2) The importance degree of the first and third shots (SE1), the second and fourth shots (SE2), the fifth and after shots (SE3), and the sixth and after shots (SE4) for both men and women players account for approximately 25%, 35%, 22%, and 16% respectively. (3) There was little difference in the importance degree of each shot effectiveness between Chinese women players and women players from other countries and regions with the same importance order of SE2 > SE1 > SE3 > SE4. However, the structure of the shot effectiveness model for men players was quite different from that for women players. (4) There is a compensation effect between shot effectiveness of table tennis players, and the total evaluation score of 12 and 13 is the dividing line for success or failure in both men and women matches.

Conclusions

TDC could well reflect the important degrees of each shot effectiveness in various ways on winning probability in table tennis matches. And this study compared the importance of several types of players’ performance on the probability of winning a match. In addition, we found that there is a compensation effect between shot effectiveness of table tennis players, and the magnitude of this effect will vary according to the type and level of shot effectiveness.
A new weighted fractional operator with respect to another function via a new modified generalized Mittag–Leffler law
Authors: Thabet Sabri T. M. , Abdeljawad Thabet , Kedim Imed , Ayari M. Iadh
Published: October 2023

In this paper, new generalized weighted fractional derivatives with respect to another function are derived in the sense of Caputo and Riemann–Liouville involving a new modified version of a generalized Mittag–Leffler function with three parameters, as well as their corresponding fractional integrals. In addition, several new and existing operators of nonsingular kernels are obtained as special cases of our operator. Many important properties related to our new operator are introduced, such as a series version involving Riemann–Liouville fractional integrals, weighted Laplace transforms with respect to another function, etc. Finally, an example is given to illustrate the effectiveness of the new results.
CRISPR/Cas9-mediated knockout of intracellular molecule SHP-1 enhances tumor-killing ability of CD133-targeted CAR T cells in vitro
Authors: Liu Ming , Zhang Linlin , Zhong Mingtian , Long Yihao , Yang Wenhui , Liu Ting , Huang Xingxu , Ma Xiaodong
Published: October 2023

CAR T cell therapy has been successfully used in the treatment of hematological malignancies, and the strategy that deletion of inhibitory receptor on the CAR T cell surface, such as PD-1, greatly enhance the antitumor effects. Here, we describe a one-step electroporation for the co-transfection of Cas9:sgRNA and CAR plasmids on primary T cells to demonstrate the effect of SHP-1 deletion in CAR T cells. By using PiggyBac Transposase system, we can achieve more than 90% of T cells express CAR gene and nearly 60% SHP-1 knockout efficiency in T cells. We show that knockout of SHP-1 in CD133 CAR T cells resulted in significantly improve the cytolysis effect on CD133 positive glioma cell lines. We further demonstrate that the enhanced antitumor efficacy of SHP-1 deletion is due to the increased release of TNF-α, IL-2 and IFN-γ in vitro. Finally, we evaluated the biosafety of Cas9 genome editing and did not find any insertions of Cas9 and obvious editing in off-target sites in CAR T cells. These data provide an approach for achieving both intracellular inhibitory molecule, SHP-1 deletion and CD133 CAR gene over-expression in human T cells. And SHP-1 could be a new potential target for adoptive CAR T cells immunotherapy.
Short-term effects of a multidisciplinary inpatient intensive rehabilitation treatment on body image in anorexia nervosa
Authors: Brusa Federico , Scarpina Federica , Bastoni Ilaria , Villa Valentina , Castelnuovo Gianluca , Apicella Emanuela , Savino Sandra , Mendolicchio Leonardo
Published: October 2023

Background

Positive changes in weight gain and eating pathology were reported after inpatient treatments for anorexia nervosa (AN). However, changes in the physical body do not always mirror changes in the imagined body. Here, the effect of a treatment focused on body image (BI) was described.

Methods

This retrospective observational study had a quasi-experimental pre-post design without the control group. During the treatment, participants (N = 72) undertake a variety of activities focused on BI. The main outcome was tested through the Body Uneasiness Test.

Results

At the end of the treatment, BI uneasiness decreased with a significant increase in weight gain.

Conclusion

This study highlights the positive short-term effect of a multidisciplinary inpatient intensive rehabilitation treatment on BI in AN. We encourage to design of psychological treatments focusing on the cognitive and emotional bodily representation (i.e. the body in the mind) to increase physical well-being.
Women oppressed in the daily lives and cultural practices of the akha people, Thailand: how can the situation change?
Authors: Wongnuch Pilasinee , Apidechkul Tawatchai , Srichan Peeradone , Mulikaburt Thanatchaporn , Kitchanapaibul Siwarak , Udplong Anusorn , Upala Panupong , Tamornpark Ratipark , Chomchoei Chalitar , Yeemard Fartima , Singkhorn Onnalin
Published: October 2023

Background

Gender equality is one of the most concerning issues globally. Females lacking equality could lead to several impacts, including health and economic impacts. Gender equality is often present in some minorities, such as the Akha hill tribe people who live in remote areas and have poor educational and economic statuses. This study aimed to understand the patterns and forms of women’s oppression through their norms and cultures.

Methods

A qualitative method was used to elicit information from participants in twelve group discussions. The participants were Pha Mee and Ulau Akha people living in six selected villages along the border of Thailand and Myanmar. Twenty-two main questions were used as a guide in the discussions, which were grouped by gender and conducted by a same-gender moderator. The findings were extracted and formed according to a thematic approach.

Results

A total of 72 Akha from six villages were invited to participate in the study: 29 males and 43 females. The average age was 47.7 years, 69.4% were married, 63.8% were Buddhist, 47.2% had never attended a school, and 47.2% worked in the agricultural sector. Several forms of Akha women’s oppression were identified: oppression through daily life, religious rituals, son preference, novels and cradle songs, naming ceremonies, and work performances. Many factors acted as unorthodox patterns to relieve the oppression of Akha women: religious conversion, educational impact, exposure to people from outside villages, and social and economic roles. Oppressed Akha women moved through four layers: individual, family, community, and external culture and modernization. The combination of culture and globalization was a key factor in gender inequity through these four layers to balance the pressures to oppress and resist.

Conclusions

Akha women have lived under the power of men for several years, and these men have built up common features to control women in their society. Improving gender inequity is important for moving to a better stage of health, quality of life, and social roles, which will increase the power of all people to improve their society in the future.
Models of assessment in the classroom: a comparative research of CALL-based vs. traditional assessment on vocabulary learning among Iranian EFL learners
Authors: Shamshiri Fatemeh , Esfahani Fariba Rahimi , Hosseini Seyed Esmail
Published: October 2023

There are a few empirical studies on comparative effects of CALL-based assessment and traditional assessment on Iranian EFL students’ vocabulary learning; therefore, the present research tried to fill this gap. To achieve this purpose, the NELT was administered to 89 EFL students, and 58 of them whose level of English proficiency was the intermediate were chosen for the target sample of the current research. Then, they were randomly divided into two groups of control and experimental, and a vocabulary pre-test was given to them. Next, the experimental group (EG) received a CALL-based assessment treatment, and the control group (CG) received a traditional-based assessment instruction. After instructing 100 new words to both groups, a vocabulary post-test was conducted, and an ANCOVA test and a paired samples t-test were utilized to analyze the scores of the pre- and post-tests. The gained outcomes indicated that the EG outstripped the CG on the post-test of vocabulary. It was concluded that using the CALL-based assessment was more useful than the conventional assessment for learning English vocabulary items. The research findings can be beneficial for EFL teachers, learners, and curriculum designers.
ESSKA consensus initiative: why, when and how?
Authors: Beaufils Philippe , Dejour David , Filardo Giuseppe , Monllau Joan Carles , Menetrey Jacques , Seil Romain , Becker Roland
Published: October 2023

The goal of a Consensus in clinical practice is to provide daily practitioners with evidence‐ based recommendations on data from the literature, clinical expertise and expectations of professionals and patients. In this context, a consensus aligns with the principles of evidence‐based medicine in clinical practice and is consequently regarded as a scientific work of a certain level of evidence (LOE). It is expected that such a project may contribute to filling the gap observed between scientific evidence and reality of the daily practice.

A Clinical Consensus is particularly needed for those topics that are of interest to daily practice but controversial due to lack of evidence, and for which expert agreement can provide valuable support in reaching conclusions.

A Consensus requires a strict methodology, based on two principles: an iterative process with independence of the involved groups and pluralism (geographical and professional representation). These processes guarantee the scientific quality of the recommendations.

Among the various consensus modalities, ESSKA has adopted the Formal Consensus derived from the Delphi method, and the RAND/UCLA appropriateness method. These two methods are complementary. The first one, based on questions‐answers sets, is particularly suitable for questions of terminology, diagnosis, planning, strategy. The second one is based on the concept of scenarios, particularly adapted to treatment indications. These two methods can also be used within the same consensus.

The aim of this article is to define what is a consensus initiative, to detail the methodology ESSKA has chosen, and to point out the key role of the dissemination.
Advantage of bulk lightning models for predicting lightning frequency over Japan
Authors: Tomioka Takumi , Sato Yousuke , Hayashi Syugo , Yoshida Satoru , Iwashita Takeshi
Published: October 2023

This study examined the performance of an explicit bulk lightning model coupled with a meteorological model for forecasting lightning by numerical weather prediction over Japan. The evaluation was conducted by comparing the lightning predicted by the explicit bulk lightning model, diagnosed empirically by the numerical model, and observed by ground base measurements. From the results, the bulk lightning model performed better in terms of lightning frequency than did the diagnostic scheme, which overestimated the lightning frequency, although there were no appreciable differences in the score of each method for the geographical distribution and time correlation compared with the observations. These results suggest that the explicit bulk lightning model is advantageous for predicting lightning frequency. The sensitivity of the simulated lightning to the choice of cloud microphysical model was also examined by using a two-moment and a one-moment bulk microphysical scheme. Sensitivity experiments on the choice of microphysical model indicated that the two-moment bulk scheme reproduced the observed lightning well, while the one-moment bulk scheme overestimated the lightning frequency. Analyses suggested that the overestimation of the lightning in the one-moment bulk scheme originated from active charge separation by riming electrification, in which graupel was produced more frequently and was assumed to fall faster. These results suggest that the explicit bulk lightning model with the two-moment bulk microphysical scheme offers an alternative to conventional lightning prediction methods.

Graphical abstract
Deep learning-based algorithm for postoperative glioblastoma MRI segmentation: a promising new tool for tumor burden assessment
Authors: Bianconi Andrea , Rossi Luca Francesco , Bonada Marta , Zeppa Pietro , Nico Elsa , De Marco Raffaele , Lacroce Paola , Cofano Fabio , Bruno Francesco , Morana Giovanni , Melcarne Antonio , Ruda Roberta , Mainardi Luca , Fiaschi Pietro , Garbossa Diego , Morra Lia
Published: October 2023

Objective

Clinical and surgical decisions for glioblastoma patients depend on a tumor imaging-based evaluation. Artificial Intelligence (AI) can be applied to magnetic resonance imaging (MRI) assessment to support clinical practice, surgery planning and prognostic predictions. In a real-world context, the current obstacles for AI are low-quality imaging and postoperative reliability. The aim of this study is to train an automatic algorithm for glioblastoma segmentation on a clinical MRI dataset and to obtain reliable results both pre- and post-operatively.

Methods

The dataset used for this study comprises 237 (71 preoperative and 166 postoperative) MRIs from 71 patients affected by a histologically confirmed Grade IV Glioma. The implemented U-Net architecture was trained by transfer learning to perform the segmentation task on postoperative MRIs. The training was carried out first on BraTS2021 dataset for preoperative segmentation. Performance is evaluated using DICE score (DS) and Hausdorff 95% (H95).

Results

In preoperative scenario, overall DS is 91.09 (± 0.60) and H95 is 8.35 (± 1.12), considering tumor core, enhancing tumor and whole tumor (ET and edema). In postoperative context, overall DS is 72.31 (± 2.88) and H95 is 23.43 (± 7.24), considering resection cavity (RC), gross tumor volume (GTV) and whole tumor (WT). Remarkably, the RC segmentation obtained a mean DS of 63.52 (± 8.90) in postoperative MRIs.

Conclusions

The performances achieved by the algorithm are consistent with previous literature for both pre-operative and post-operative glioblastoma’s MRI evaluation. Through the proposed algorithm, it is possible to reduce the impact of low-quality images and missing sequences.
Exosome-bearing hydrogels and cardiac tissue regeneration
Authors: Amini Hassan , Namjoo Atieh Rezaei , Narmi Maryam Taghavi , Mardi Narges , Narimani Samaneh , Naturi Ozra , Khosrowshahi Nafiseh Didar , Rahbarghazi Reza , Saghebasl Solmaz , Hashemzadeh Shahriar , Nouri Mohammad
Published: October 2023

Background

In recent years, cardiovascular disease in particular myocardial infarction (MI) has become the predominant cause of human disability and mortality in the clinical setting. The restricted capacity of adult cardiomyocytes to proliferate and restore the function of infarcted sites is a challenging issue after the occurrence of MI. The application of stem cells and byproducts such as exosomes (Exos) has paved the way for the alleviation of cardiac tissue injury along with conventional medications in clinics. However, the short lifespan and activation of alloreactive immune cells in response to Exos and stem cells are the main issues in patients with MI. Therefore, there is an urgent demand to develop therapeutic approaches with minimum invasion for the restoration of cardiac function.

Main body

Here, we focused on recent data associated with the application of Exo-loaded hydrogels in ischemic cardiac tissue. Whether and how the advances in tissue engineering modalities have increased the efficiency of whole-based and byproducts (Exos) therapies under ischemic conditions. The integration of nanotechnology and nanobiology for designing novel smart biomaterials with therapeutic outcomes was highlighted.

Conclusion

Hydrogels can provide suitable platforms for the transfer of Exos, small molecules, drugs, and other bioactive factors for direct injection into the damaged myocardium. Future studies should focus on the improvement of physicochemical properties of Exo-bearing hydrogel to translate for the standard treatment options.

Graphical Abstract
Oral galvanism related to dental implants
Authors: Kim Soung Min
Published: October 2023

Background

A range of different chemical interactions can generate an unexpected electronic current in a process called galvanism. Oral galvanism (OG) can also be generated by different chemical actions from diverse intraoral rehabilitated metals, including gold, copper, mercury, titanium, and titanium alloy. The main aim of this manuscript is to review OG, particularly focusing on titanium implants and related metallic materials. We searched the MEDLINE (PubMed), Embase, Scopus, and Google Scholar databases for relevant literature published through December 2019. The keywords included “galvanic current”, “galvanism”, “galvanic corrosion”, “oral galvanism”, combined with “oral”, “oral cavity”, “implant”, and “saliva.”

Results

Out of 343 articles, 126 articles that met the inclusion criteria were reviewed. We examined and summarized research on OG through a division into four categories: definition and symptoms, diagnosis with testing methods, galvanic corrosion, and oral precancerous lesions with OG.

Conclusions

Patients with OG have high oral energy and current, and although this phenomenon may be due to the patient’s mental illness, OG due to amalgam or mercury occurs. It is evident that the difference in electron potential caused by different elemental components such as titanium alloy and pure titanium, which are essential for manufacturing the implant fixture and the abutment, and chrome and nickel, which are essential for manufacturing the upper crown, causes OG. Since the oral cavity is equipped with an environment in which electric current can be transmitted easily due to saliva, it is imperative that clinicians review the systemic and local effects of salivation.
Could ultrasound and muscle elastography be associated with clinical assessment, laboratory and nailfold capillaroscopy in juvenile dermatomyositis patients?
Authors: de Andrade Renata Lopes Francisco , Mendonça José Alexandre , Piotto Daniela Petry , Guimarães Julio Brandão , Terreri Maria Teresa
Published: October 2023

Background

Juvenile Dermatomyositis (JDM) is the most common idiopathic inflammatory myopathy in children. Imaging exams are useful for muscle assessment, with ultrasonography (US) being a promising tool in detecting disease activity and tissue damage. There are few studies about muscle elastography.

Objectives

Our aim was to associate clinical, laboratory, and nailfold capillaroscopy (NC) assessments with US in JDM patients; and to compare the findings of US and Strain Elastography (SE) from patients and healthy controls.

Methods

An analytic cross-sectional study was performed with JDM patients and healthy controls. Patients underwent clinical exam to access muscle strength and completed questionnaires about global assessment of the disease and functional capacity. Patients were submitted to NC and measurement of muscle enzymes. All subjects underwent US assessment, using gray scale, Power Doppler (PD), and SE.

Results

Twenty-two JDM patients and fourteen controls, aged between 5 and 21 years, matched for age and sex were assessed. In qualitative and semi-quantitative gray scale, we observed a higher frequency of alterations in patients (p < 0.001), while in PD, there was a higher frequency of positivity in patients’ deltoids and anterior tibialis (p < 0.001). Active disease was associated with an important change in the semi-quantitative gray scale in deltoids (p = 0.007), biceps brachii (p = 0.001) and quadriceps femoris (p = 0.005). The SE demonstrated a high negative predictive value of 87.2.

Conclusion

US was able, through gray scale, to differentiate JDM patients from controls, while PD achieved such differentiation only for deltoids and anterior tibialis. The semi-quantitative gray scale showed disease activity in proximal muscles. SE was not able to differentiate patients from controls.
Hearing assessment and treatment outcome in ENT tuberculosis at a tertiary hospital in India
Authors: Chavan Reshma P. , Parokaran Anish Anto , Nazir Hamna Abdu , Damodhar Ajay P.
Published: October 2023

Aim

An attempt has been made to observe the response of anti-Koch’s treatment and the effect of anti-Koch’s treatment on hearing in ENT tuberculosis patients by pure tone audiometry.

Material and methods

A prospective observational study was carried out at the Government Medical College Hospital. A total of 200 cases diagnosed with tuberculosis in the head and neck regions were included in the study. Sputum/pus of patients were sent for cartridge-based nucleic acid amplification test (CBNAAT). Hearing assessment was done with PTA1 at the start of the treatment, PTA2 after the intensive phase (IP) at 2 months for newly diagnosed patients and at 3 months for previously treated patients, and PTA3 at the end of the AKT treatment given as per guidelines.

Results

Among 200 ENT tuberculosis patients, 176 patients were cured with a new case regimen, and one patient was a defaulter. Among 19 patients who were previously treated cases (CAT II regimen), two patients had treatment failure, and the other 17 patients were cured. Four patients diagnosed to have multidrug-resistant tuberculosis (MDR-TB) on the initial drug susceptibility testing (DST) were given 24 months’ treatment according to the recent guidelines of MDR-TB treatment regimen, and the patients were cured. In the present study of 200 patients, in the first PTA, 192 patients had normal hearing; in the second PTA, 106 patients had normal hearing; and in the third PTA, 35 patients had normal hearing. 21.7% of cases who were on aminoglycoside therapy developed significant sensorineural hearing loss in high frequency.

Conclusion

Anti-Koch’s treatment (AKT) has proven effective in ENT tuberculosis. All patients taking anti-Koch’s treatment should be regularly monitored for hearing loss, adherence to treatment, drug-resistant variants, and local recurrences.
Axial resolution enhancement of borehole acoustic measurements via inversion-based interpretation supported with ultrasonic data
Authors: Liu Jingxuan , Eghbali Ali , Torres-Verdín Carlos
Published: October 2023

Conventional borehole acoustic measurements deliver P and S wave slowness logs that inherently average in-situ rock properties along the receiver array of the acoustic instrument. These acquisition and processing conditions often limit the accuracy and resolution of the estimated rock elastic properties across heterolithic sedimentary sequences. We introduce an inversion-based interpretation method for borehole acoustic measurements that improves their vertical resolution by complementing them with ultrasonic borehole images. Results consist of high-resolution, layer-by-layer P and S wave slownesses. The combination of borehole acoustic measurements with borehole ultrasonic images enhances the definition of small rock features such as thin beds or vugs. We verify the new inversion-based interpretation method with synthetic borehole measurements and field acoustic logs acquired across sandstone-shale laminated formations and spatially heterogeneous carbonates. High-resolution layer-by-layer compressional and shear slownesses obtained with the new inversion method give rise to wider variations of calculated elastic properties than with standard acoustic logs for improved petrophysical and geomechanical evaluation. It is also found that implementing a common set of layers for the estimation of layer-by-layer rock elastic properties mitigates biases due to discrepancies in the intrinsic resolution of the various input measurements.
FRI076 Colchicine Treatment Effects On The Gut Microbiome In Adults With Metabolic Syndrome, Insulin Resistance, And High C-reactive Protein (CRP): A Secondary Analysis Of A Randomized, Placebo-controlled Clinical Trial
Authors: Kisimba Celine M , Donahue Jack L , Chivukula Krishna Karthik , Subramanian Poorani , Mistry Shreni D , Wolska Anna , Remaley Alan T , Yanovski Jack Adam , Demidowich Andrew Paul
Published: October 2023

Disclosure: C.M. Kisimba: None. J.L. Donahue: None. K.K. Chivukula: None. P. Subramanian: None. S.D. Mistry: None. A. Wolska: None. A.T. Remaley: None. J.A. Yanovski: None. A.P. Demidowich: None.

Background: Obesity-induced inflammation plays a substantial role in the development of insulin resistance and type 2 diabetes. The altered gut flora in obesity can also contribute to metabolic dysregulation and systemic inflammation. However, it remains unclear how dysregulation of systemic inflammation in obesity affects the gut microbiome. We hypothesized that colchicine’s systemic anti-inflammatory effects in obesity would be associated with improvements in gut microbial diversity. Methods: This study was a secondary analysis of a double-blind randomized placebo-controlled trial, in which 40 adults with obesity, high CRP (≥ 2.0 mg/L), insulin resistance (HOMA-IR ≥ 2.6 mg/L), and metabolic syndrome (MetS) were randomized to three months of colchicine 0.6mg or placebo tablets twice daily. Serum and stool samples were collected at baseline and final visit. Gut microbiota composition was characterized from stool DNA by dual-index amplification and sequencing of 16S ribosomal RNA. Results: Pre- and post-intervention stool samples were available for 15 colchicine- and 12 placebo-treated subjects. Circulating hsCRP, interleukin-6, resistin, white blood count, and neutrophils were significantly decreased in the colchicine arm as compared to placebo. However, changes in stool microbiome alpha diversity, as assessed by the Chao1, Shannon, and Pielou indices, were not significant between groups. Sequence variant counts were unchanged among all examined phyla or families. Oscillibacter was the only genus to demonstrate even a nominally significant change. Conclusion: Among adults with obesity and MetS, colchicine significantly improved systemic inflammation. However, this anti-inflammatory effect was not associated with significant changes in the gut microbiome. Further studies are warranted to investigate this relationship.

Presentation: Friday, June 16, 2023
SAT663 Determination Of Mitochondrial DNA Mass In Women With Polycystic Ovary Syndrome
Authors: Rojo Mailén , Millán Andrea L , Pérez Hernán , Pautasso Constanza M , Maidana Patricia N A , Emily Matos Viloria G , Cerrone Gloria E , Frechtel Gustavo D
Published: October 2023

Disclosure: M. Rojo: None. A.L. Millán: None. H. Pérez: None. C.M. Pautasso: None. P.N. Maidana: None. M.G. Emily: None. G.E. Cerrone: None. G.D. Frechtel: None.

Polycystic ovary syndrome (PCOS) is characterized by the presence of obesity and/or metabolic syndrome that can influence mitochondrial DNA content. Objective: To evaluate the mitochondrial DNA mass in women with PCOS in comparison with control women and its relationship with metabolic parameters and absolute telomeric length (aTL). Materials and methods: We studied 81 women with PCOS and 57 control women aged 16 to 46 years. The copy number of mitochondrial DNA (mtDNA) was determinated in peripheral blood leukocytes by quantitative PCR in real time, SYBR Green method. The relationship between mtDNA copy number and copy number of the single copy β2 microglobulin gene was measured. Anthropometric, metabolic and hormonal variables (PCOS) were studied to carry out linear regression between the ADNmt content and the distinct comparative form variables between the distinct groups. Statistical analysis was carried out in SPSS version 25 with a significance level of 0.05. Results: Compared to controls, PCOS patients have higher body mass index (BMI), waist circumference (WC), levels of TG, LDL-c, total cholesterol, fasting plasma glucose, and lower levels of HDL-c. We observed that mitochondrial DNA mass was significantly lower in the presence of PCOS (216,40±140,9 vs 164.59 ± 102.07; p = 0.020). When corrected for age, this result is still significant. PCOS women were classified as metabolically healthy PCOS (PCOS-MH) and PCOS with metabolic syndrome (PCOS-SM). We observed a progressive decrease in mtDNA content between control, PCOS-MH, and PCOS-SM (215,42±143,39; 179,64±106,12; 149,69±93,13), with statistical significance between control and PCOS-SM (p=0,044), maintained after age correction (p=0,023). By linear regression we found association of mtDNA mass with BMI (p=0,013) and WC (p=0,030). An association tendency was observed between lower mitochondrial DNA mass and higher HOMA index (p=0,086), also, with longer aTL (p = 0.088). Conclusion PCOS-MH was defined as an intermediate phenotype between controls and PCO-SM, when mass mtDNA mass, aTL and metabolic variables were studied, reflecting the oxidative stress associated with PCOS that could cause damage mtDNA, proteins and lipids.

Presentation: Saturday, June 17, 2023
THU072 Association Between Nonalcoholic Fatty Liver Disease And Growth Hormone Deficiency In Patients With Nonfunctioning Pituitary Adenoma
Authors: Hwang Yoon-a , Lee Hye Won , Ahn Sang Hoon , Lee Eun-Jig , Ku Cheol Ryong , Kim Seung Up
Published: October 2023

Disclosure: Y. Hwang: None. H. Lee: None. S. Ahn: None. E. Lee: None. C. Ku: None. S. Kim: None.

Objective: We investigated the association between nonalcoholic fatty liver disease (NAFLD) and growth hormone deficiency (GHD) in patients with non-functioning pituitary adenoma (NFPA). Methods: Patients with NFPA who underwent transsphenoidal adenectomy between January 2005 and December 2018 were recruited. Pituitary function was determined by the insulin tolerance test, thyroid hormone assay, and gonadal hormone levels. NAFLD was defined as a hepatic steatosis index greater than 36. Results: 278 patients were included for the analysis. Mean age was 44.2 years and 58.6%[n=163] patients were female. Among 278 patients,103 (37.0%) had GHD, 139 (50.0%) had hypogonadism. 75 out of 278 patients (27.0%) had NAFLD. The prevalence of NAFLD was significantly higher in patients with GHD than in those without (36.9% vs. 21.1%, p=0.01). Even after adjusting for age, total cholesterol level, gonadal function, and prolactin level, patients with GHD had approximately two-fold higher prevalence of NALFD than those without GHD (adjusted odds ratio [OR]=1.85, 95% confidence interval [CI]=1.05-3.28, p=0.03). Among female patients, the prevalence of NALFD was significantly higher in those with GHD than in those without (adjusted OR=2.39, 95% CI=1.03-5.55, p=0.04). On the other hand, the prevalence of NAFLD among male patients was statistically similar between patients with and without GHD (p>0.05). In addition, gonadal function did not affect the prevalence of NAFLD in patients with NFPA (29.3% with eugonadism vs. 47.8% with hypogonadism, p=0.14). Conclusion: The prevalence of NAFLD among patients with NFPA was twice as high as among patients without GHD. Thus, screening for NAFLD may be necessary in NFPA patients with GHD.

Presentation: Thursday, June 15, 2023