bluuebunny/crossref_metadata_2025 huggingface dataset:
MFNG is an independent prognostic marker for osteosarcoma
Authors: Gao Yi , Luo Lili , Qu Yuxing , Zhou Qi
Published: July 2023

Background

Osteosarcoma (OS) has been the most common malignancy of the bone in children and adolescents, and the unsatisfactory prognosis of OS sufferers has long been a hard nut. Here, we delved into the markers with a prognostic value for predicting the prognosis of OS patients.

Methods

The messenger RNA (mRNA) sequencing data and clinical data of OS were retrieved from a Gene Expression Omnibus (GEO) dataset (GSE39058). Next, prognosis-related genes (PRGs) were filtered with the aid of Kaplan–Meier (K-M) curves and Cox regression analysis (CRA). Later, Gene Ontology (GO) biological process analysis was used in verifying the function of different genes. CCK-8 and cell apoptosis assay were performed to evaluate the function of MFNG in U2OS cells.

Results

Among the obtained genes, Manic Fringe (MFNG) had the closest relevance to prognosis and clinical traits, thus becoming the research object herein. In light of the expression level of MFNG, patients fell into high- and low-MFNG groups. Patients with elevated MFNG expression had a worse prognosis, according to the survival analysis. It was unveiled by the univariate and multivariate analyses that MFNG expression was an independent adverse prognostic factor for disease-free survival in OS patients (p = 0.006). Meanwhile, MFNG expression was linked to gender and tumor recurrence, and it was higher in patients with OS recurrence. Moreover, overexpression of MFNG promoted the cell proliferation and inhibited the cell apoptosis of U2OS cells.

Conclusions

The expression level of MFNG negatively correlated with OS progression, and as an independent adverse prognostic factor for disease-free survival in OS patients. Moreover, MFNG regulated the cell proliferation and apoptosis of OS cells.
Ferroptosis: a novel regulated cell death participating in cellular stress response, radiotherapy, and immunotherapy
Authors: Zheng Xiaogang , Jin Xiaodong , Ye Fei , Liu Xiongxiong , Yu Boyi , Li Zheng , Zhao Ting , Chen Weiqiang , Liu Xinguo , Di Cuixia , Li Qiang
Published: July 2023

Background

Ferroptosis is a regulated cell death mode triggered by iron-dependent toxic membrane lipid peroxidation. As a novel cell death modality that is morphologically and mechanistically different from other forms of cell death, such as apoptosis and necrosis, ferroptosis has attracted extensive attention due to its association with various diseases. Evidence on ferroptosis as a potential therapeutic strategy has accumulated with the rapid growth of research on targeting ferroptosis for tumor suppression in recent years.

Methods

We summarize the currently known characteristics and major regulatory mechanisms of ferroptosis and present the role of ferroptosis in cellular stress responses, including ER stress and autophagy. Furthermore, we elucidate the potential applications of ferroptosis in radiotherapy and immunotherapy, which will be beneficial in exploring new strategies for clinical tumor treatment.

Result and conclusion

Based on specific biomarkers and precise patient-specific assessment, targeting ferroptosis has great potential to be translated into practical new approaches for clinical cancer therapy, significantly contributing to the prevention, diagnosis, prognosis, and treatment of cancer.
Darier’s disease exhibits a unique cutaneous microbial dysbiosis associated with inflammation and body malodour
Authors: Amar Yacine , Rogner Danielle , Silva Rafaela L. , Foesel Bärbel U. , Ud-Dean Minhaz , Lagkouvardos Ilias , Steimle-Grauer Susanne A. , Niedermeier Sebastian , Kublik Susanne , Jargosch Manja , Heinig Matthias , Thomas Jenny , Eyerich Stefanie , Wikström Jakob D. , Schloter Michael , Eyerich Kilian , Biedermann Tilo , Köberle Martin
Published: July 2023

Background

Darier’s disease (DD) is a genodermatosis caused by mutations of the ATP2A2 gene leading to disrupted keratinocyte adhesion. Recurrent episodes of skin inflammation and infections with a typical malodour in DD indicate a role for microbial dysbiosis. Here, for the first time, we investigated the DD skin microbiome using a metabarcoding approach of 115 skin swabs from 14 patients and 14 healthy volunteers. Furthermore, we analyzed its changes in the context of DD malodour and the cutaneous DD transcriptome.

Results

We identified a disease-specific cutaneous microbiome with a loss of microbial diversity and of potentially beneficial commensals. Expansion of inflammation-associated microbes such as Staphylococcus aureus and Staphylococcus warneri strongly correlated with disease severity. DD dysbiosis was further characterized by abundant species belonging to Corynebacteria, Staphylococci and Streptococci groups displaying strong associations with malodour intensity. Transcriptome analyses showed marked upregulation of epidermal repair, inflammatory and immune defence pathways reflecting epithelial and immune response mechanisms to DD dysbiotic microbiome. In contrast, barrier genes including claudin-4 and cadherin-4 were downregulated.

Conclusions

These findings allow a better understanding of Darier exacerbations, highlighting the role of cutaneous dysbiosis in DD inflammation and associated malodour. Our data also suggest potential biomarkers and targets of intervention for DD.
Upper limb practice with a dynamic hand orthosis to improve arm and hand function in people after stroke: a feasibility study
Authors: Wong Yih , Ada Louise , Månum Grethe , Langhammer Birgitta
Published: July 2023

Background

Dynamic hand orthosis may help upper limb recovery by keeping the wrist and hand in an optimal position while executing a grasp. Our aim was to investigate the feasibility of combining a dynamic hand orthosis with task-oriented upper limb practice after stroke.

Method

Fifteen adult stroke survivors were recruited in a single-group, pre-post intervention study. They received 12 weeks of task-oriented upper limb training with a dynamic hand orthosis with 3 weeks supervised at a community rehabilitation unit followed by 9 weeks unsupervised at home. Feasibility was determined by recruitment (proportion of eligible/enrolled and enrolled/retained participants), intervention (adherence, acceptability, and safety) and measurement (time taken to collect outcomes and proportion of participants where all measures were collected). Clinical outcomes were measured at baseline (Week 0), end of Week 3 and Week 12.

Results

Fifteen (46%) of eligible volunteers were enrolled in the study. Eight (53%) of those enrolled completed the 12-week intervention. Eighty eight percent were satisfied or very satisfied with the dynamic hand orthosis. Clinical measures were collected for all participants at baseline and in all those who completed the intervention but often took over one hour to complete. At 12 weeks, participants had improved by 7 points out of 57 (95% CI 2 to 13) on the ARAT and by 8 points out of 66 (95% CI 0 to 15) on the FMA-UE.

Conclusion

The intervention appears to be feasible in terms of acceptability and safety, while recruitment and measurement need further consideration. The magnitude of the clinical outcomes suggests that the intervention has a potential to improve both upper limb activity and impairment, and this study provides useful information for the design of a pilot randomized trial.

Trial registration

ClinicalTrials.gov Identifier: NCT03396939.
SOP: acute hyperkinetic movement disorders
Authors: Sauerbier Anna , Gronostay Alexandra , Dafsari Haidar S.
Published: July 2023

Introduction

Movement disorders emergencies describe acute-onset neurological conditions in which a delay of recognition and treatment may cause severe morbidity and mortality of patients. Hyperkinetic movement disorders include tremor, chorea/ballism, dystonia, myoclonus, and tics. Here we present a standard operating procedure (SOP) for the diagnostic work-up and different treatment options depending on the phenomenology as well as the aetiology of underlying diseases.

Comments

The recognition of the phenomenology is essential for the symptomatic therapy of the acute movement disorder and forms the basis for the choice of ancillary investigations to confirm the suspected underlying causes. Furthermore, we summarise diagnostic techniques, including blood and cerebrospinal fluid tests and neuroimaging, which provide rapid results and are useful for the indication of causal treatments of specific acute movement disorders.

Conclusions

Despite their acute nature, most of these conditions can result in good clinical outcomes, if recognised early.
An exploratory pharmacogenetic screening of SLC22A6, SLC22A8, ABCC4 and ABCC10 genes in a cohort of Ghanaian HBV patients
Authors: Thomford Nicholas Ekow , Adu Faustina , Gavor-Kwashi Cyril , Nyarko Samuel Badu , Nsiah Paul , Ephraim Richard Dadzie , Adjei George , Anyanful Akwasi
Published: July 2023

Background

Organic anion transporters and efflux transporters are involved in the metabolism of drugs such as tenofovir disoproxil fumarate (TDF). Given the important role of organic anions and efflux transporters in drug disposition, genetic variations lead to interindividual differences in drug response. Variations in the SLC and ABC transporters have been associated with drug-induced renal dysfunction. Looking at the prevalence of HBV infection in our population and the use of drugs such as TDF in managing this condition, this study aimed to undertake an exploratory analysis of genetic variation in renal transporters SLC22A6, SLC22A8, ABCC10 and ABCC4 in a Ghanaian HBV infected cohort.

Methods

We genotyped 160 HBV infected patients for SNPs in SLC22A6 (rs12293966, rs4149170, rs6591722, rs955434), SLC22A8 (rs11568487), ABCC10 (rs700008, rs831311) and ABCC4 (rs9282570) genes. Clinicodemographic data was taken, and glomerular filtration rate (eGFR) was estimated using the CKD-EPI formula. Genotyping was undertaken using Iplex gold SNP genotyping protocol on the Agena MassARRAY® system. Statistical analysis was undertaken using packages in Stata SE (v17) and GraphPad prism. Hardy–Weinberg equilibrium, haplotype inference, and linkage disequilibrium (LD) were evaluated using web-based tools LDlink and Shesis.

Results

The average eGFR was 79.78 ± 33.08 mL/min/1.73 m2 with 31% classified as stage 1 with normal or high GFR (eGFR > 90 mL/min/1.73 m2) and 45% with stage 2 CKD (> 60–89.99 mL/min/1.73 m2). All variants were in HWE except rs4149170, rs9282570 and rs700008 where p < 0.05. Strong LD was observed in the variants rs6591722, rs4149170, rs12293966, rs955434 and rs11568487. There was significant association between rs12293966 and eGFR stage under crude dominant inheritance model (OR 0.27, 95% CI 0.08–0.81; p = 0.019). Under crude model (OR 0.21, 95% CI 0.07–0.66; p = 0.008), adjusted model 1 (OR 76, 95% CI 0.39–7.89; p = 0.014) and adjusted model 2 (OR 0.30, 95% CI 0.12–0.78; p = 0.013) there was significant association observed between rs12293966 and eGFR stage in a codominant inheritance.

Conclusion

The associations observed in this study point to the need for further evaluation with the population of HBV patients on TDF treatment in addition to other factors that would lead to unfavorable outcomes. This exploratory finding may require confirmation in a larger cohort with proper phenotyping to investigate the exact pharmacogenetic mechanisms.
Mapping circular economy principles and servitisation approach in business model canvas: an integrated literature review
Authors: Atif Sehrish
Published: July 2023

It is a common perception that circular economy (CE) principles positively influence the servitisation strategy. The firms improve their productivity and resource/energy efficiency by engineering functional efficacy in a sustainable product. However, the managerial practices that support this distinctive business model (BM) are relatively sparse despite their liaisons. Therefore, this paper is focused on addressing this gap by investigating the managerial practices that firms can implement to explore the downstream opportunities of CE and servitisation BM. This paper uses a systematic literature review (SLR) approach to frame a theoretical model. The findings were improved by cross-validation using a text mining technique, demonstrating how organisations may co-create and extract value through CE and servitisation to develop a flexible management system. This study used the business model canvas antecedents to map a set of managerial practices to understand the mythography of the servitisation approach with CE principles. The findings show that identifying key stakeholders assists a firm in selecting an appropriate strategy based on sustainable value propositions that include cost structure and revenue streams to close the resource loop. Managerial commitment is critical in achieving the maximum economic, environmental, and societal potential. A few research agendas with distinct research orientations are proposed to mitigate the significant research gaps in CE and servitisation literature. This study provides managers and practitioners with some intriguing insights as it emphasises the need to select a suitable strategy to utilise a firm's resources successfully.
Mucoepidermoid Carcinoma of the Lung Harboring MET Exon 14 Skipping Mutation Treated With Tepotinib: A Case Report
Authors: Inno Alessandro , Bogina Giuseppe , Settanni Giulio , Foti Giovanni , Tessari Roberto , Gori Stefania
Published: July 2023

A case of pulmonary mucoepidermoid cancer harboring MET exon 14 skipping mutation and responding to tepotinib.
Lithium Monotherapy in Graves Thyrotoxicosis
Authors: Larkworthy James , Kirresh Omar , Chakera Ali , Ahmed Fahad
Published: July 2023

Lithium is not commonly used to treat thyrotoxicosis, and there are few reports in the literature of its use as initial therapy in thyrotoxicosis. We describe the case of a patient with Graves thyrotoxicosis and ophthalmopathy, on a background of autoimmune neutropenia, treated successfully with relatively long-term lithium monotherapy. Lithium was used at a lower dose and longer duration than previously reported on, to good effect. We demonstrate that lithium is an important and useful option for those who are unable to tolerate thionamide therapy.
The Organic Monocrop
Authors: Kumpf Desirée
Published: July 2023

Under the banner of green growth, a number of theories currently promote new models that seek to decouple economic growth from excessive resource use and its adverse ecological impacts. But how exactly can one generate profit without disturbing ecologies? Drawing on ethnographic data from Indian tea plantations that are in the process of being converted to organic agriculture, this article examines specific attempts to alter the intersection of vegetal and financial growth. As a cultivation system, plantations intensify the manipulation of plant growth for monetary ends; they seek to mass produce and standardize valuable vegetal materials and radically simplify the ecologies that surround these monocrops. Taking a multispecies perspective, this article traces how green growth experiments seek to change the forms, rhythms, and ecological alliances that characterize the tea plant’s growth. The article argues that, on organic tea plantations, green growth aspires to harness the unruly aspects of nonhuman life to make monocultures more productive. In the process, the nonscalable impulses of vegetal growth, unpredictable interactions with wildlife, and even the potentially harmful metabolisms of insects and fungi become integral parts of plantation cultivation—though not always successfully. The article widens our understanding of how green production methods are envisioned not as alternatives to but rather as support for industrial cultivation systems.
Snake Oil and Gaslight
Authors: Staub Michael E.
Published: July 2023

This article seeks to sidestep the dilemma of restricted access to oil company archives through a close examination of a heretofore underutilized source base: the fossil fuel industry’s own trade journals and magazines. These oil and gas industry trade publications have served to envelop their readership in what we would now call an information bubble. Still, it is important to highlight the contradictory tactics that trade industry publications effectively test-marketed in the 1960s and 1970s to nullify a perception of petroleum as hazardous to public health and the natural environment. Most paradoxical was how trade publications reinvented their industry both as not a problem for the natural environment and as the solution to all and any future problems faced by that environment. Unlike any other currently available source base, Big Oil’s trade publications offer insights into the timing and triggering motivations of the industry’s shift to self-representation as stewards of nature, as well as the rapidity and multidimensional comprehensiveness of the industry’s mobilization to develop counternarratives to potential critics. And not least of all, these publications reveal the fantastical lengths to which Big Oil was willing to go in its efforts to preemptively block the research and development of electric vehicles, principally by diverting to the imaginary prospect of a gasoline-powered but nonetheless “smogless” car. This history represents an early and previously unexplored chapter in the evolution of what we have come to recognize as corporate “greenwashing.”
The Dynamics of Property Rights in Modern Autocracies
Authors: Cao Dan , Lagunoff Roger
Published: July 2023

We study a dynamic model of property appropriation in autocracies. To maintain the appearance of the rule of law, an autocrat reassigns property only when the reassignment is acceptable to all affected citizens. Nevertheless, the autocrat can appropriate public and private property by exploiting enforcement gaps. After an adjustment period, wealth shares of public property and the private property of out-groups decline. The model rationalizes the connection between wealth inequality and privatization in many autocracies. Calibrating to Russian and Chinese data, simulations to mid-twenty-first century display widening wealth gaps between elites and the populace. Anocracies mitigate this outcome. (JEL D31, D72, K11, L33, O17, P26, P36)
Working for References
Authors: Häfner Samuel , Taylor Curtis R.
Published: July 2023

We analyze the incentive and welfare consequences of job references in a large economy marked by moral hazard, limited liability, exogenous job separation, and structural unemployment. In the firm-optimal equilibrium, employers provide references whenever production is successful, and workers holding references are hired with certainty in the ensuing period. Compared to a setting without references: the bonus-contract offers are lower, yet the workers’ equilibrium effort is higher. Profits and welfare are higher, yet aggregate worker welfare is lower. Also, firms do not fully internalize the incentive effect of references and could typically increase profits and welfare by jointly raising bonuses. (JEL D82, D86, E24, J33, J41, L25, M51)
Similarity Nash Equilibria in Statistical Games
Authors: Argenziano Rossella , Gilboa Itzhak
Published: July 2023

A statistical game is a game in which strategic interaction is mediated via a binary outcome y, coupled with a prediction problem where a characteristic x of the game may be used to predict its outcome y based on past values of (x, y) . In Similarity Nash Equilibria, players combine statistical and strategic reasoning, using an estimate of y as a coordination device. They predict y by its similarity-weighted frequency and learn the optimal notion of similarity from the data. We prove that the model captures the importance of precedents and the endogenous formation of sunspots. (JEL C72, C73)
Clinical evaluation of atlas-based auto-segmentation in breast and nodal radiotherapy
Authors: Welgemoed Camarie , Spezi Emiliano , Riddle Pippa , Gooding Mark J , Gujral Dorothy , McLauchlan Ruth , Aboagye Eric O
Published: July 2023

Objectives:

Accurate contouring of anatomical structures allows for high-precision radiotherapy planning, targeting the dose at treatment volumes and avoiding organs at risk. Manual contouring is time-consuming with significant user variability, whereas auto-segmentation (AS) has proven efficiency benefits but requires editing before treatment planning. This study investigated whether atlas-based AS (ABAS) accuracy improves with template atlas group size and character-specific atlas and test case selection.

Methods and materials:

One clinician retrospectively contoured the breast, nodes, lung, heart, and brachial plexus on 100 CT scans, adhering to peer-reviewed guidelines. Atlases were clustered in group sizes, treatment positions, chest wall separations, and ASs created with Mirada software. The similarity of ASs compared to reference contours was described by the Jaccard similarity coefficient (JSC) and centroid distance variance (CDV).

Results:

Across group sizes, for all structures combined, the mean JSC was 0.6 (SD 0.3, p = .999). Across atlas-specific groups, 0.6 (SD 0.3, p = 1.000). The correlation between JSC and structure volume was weak in both scenarios (adjusted R  2−0.007 and 0.185).

Mean CDV was similar across groups but varied up to 1.2 cm for specific structures.

Conclusions:

Character-specific atlas groups and test case selection did not improve accuracy outcomes. High-quality ASs were obtained from groups containing as few as ten atlases, subsequently simplifying the application of ABAS. CDV measures indicating auto-segmentation variations on the x, y, and z axes can be utilised to decide on the clinical relevance of variations and reduce AS editing.

Advances in knowledge:

High-quality ABASs can be obtained from as few as ten template atlases.

Atlas and test case selection do not improve AS accuracy.

Unlike well-known quantitative similarity indices, volume displacement metrics provide information on the location of segmentation variations, helping assessment of the clinical relevance of variations and reducing clinician editing. Volume displacement metrics combined with the qualitative measure of clinician assessment could reduce user variability.
Cumulative radiation exposure from radiological imaging in patients with Hodgkin and diffuse large b-cell lymphoma not submitted to radiotherapy
Authors: Brambilla Marco , Matheoud Roberta , Margiotta-Casaluci Gloria , Cannillo Barbara , D'Alessio Andrea , Siciliano Chiara , Carriero Alessandro , Gaidano Gianluca
Published: July 2023

Objective:

To assess the cumulated exposure to radiation due to imaging in Hodgkin (HL) and diffuse large B-cell (DLBCL) lymphoma patients who were not submitted to radiotherapy.

Methods:

The study population included 51 and 83 adult patients with HL and DLBCL, with a follow-up duration >1 year. The cumulated exposure was expressed using patient-specific data as cumulated effective dose (CED).

Results:

Fifty-one HL patients (median age 47 years) were followed for a median of 3.5 years. The median total CED per subject was 104 mSv. CT and PET/CT examinations accounted for 75 and 25% of the total CED, respectively. 26 patients (49%) had a total CED ≥ 100 mSv and the maximum CED was 302 mSv.

Eighty-three DLBCL patients (median age 66 years) were followed for a median of 3.7 years. The median total CED per subject over the study period was 134 mSv. CT and PET/CT for 86% and 13% of the total CED, respectively. 56 patients (67%) had a total CED ≥100 mSv. The maximum CED was 557 mSv.

Conclusion:

Our study demonstrated the large number of imaging procedures performed for patients with lymphoma. Overall, 61% of the patients accrued a CED ≥ 100 mSv. Imaging policies were only in a partial agreement with current international guidelines.

Advances in knowledge:

The cumulated exposure radiation exposure may be of concern in HL patients and the contribution of CT procedures to the total CED is significant. The standardisation of clinical guidelines for managing patients with lymphoma is warranted.
A Conservation and Material Study of the Fire-fighting Nozzle Culture Heritage
Authors: Baek Seo Hyun , Park Seong U , Cho Ye Eun , Rhee Bo A , Ahn Sangdoo
Published: July 2023

Fire-fighting culture heritage refer to tangible items and materials that contain stories related to fire-fighting. Among the fire-fighting items, the nozzles, which play a large part in extinguishing fires, are of great conservation value because few of them are left as culture heritage. In this study, conservation treatment was performed while observing the surface and corrosion state of two nozzle culture heritage used for fire-fighting. The processes were recorded by reflectance transformation imaging technique. In addition, the material characteristics were examined through observation of surface microstructure and component analysis of a total of 3 samples, including 2 of these relics and 1 of recently produced nozzle. As a result, it was confirmed that most of the rust on the nozzle surface was atacamite, and that nantokite remained partially. The base metal of the nozzle was presumed to be red brass among the types of brass, considering that it contains Cu as the main element, 2 to 15% of Zn, 5% or less of Sn, and 8% or less of Pb as additional alloying elements. In addition, the crystal segregation did not disappear and the solid solution was generated as a heterogeneous dendrite, indicating that the brass casting used as a fire nozzle was rapidly cooled.
A Study on Evaluation Methods of Conserving Painted Sculpture
Authors: Beom Dae Geon , Song Song Yi , Chung Kwang Yong
Published: July 2023

A lot of individual research on materials and methods suitable for the color of the paint layer has been conducted in the conservation of existing painted sculptures. However, there was no guidance standard for conservation treatment and repainting of painted sculptures, and an evaluation method for objective conservation management was required as deterioration continued in the outdoors. Therefore, in this study, the conservation treatment effect was confirmed by comparing and evaluating the physical properties of the original paint and the replacement paint by citing two cases. Based on the survey items : SEM observation (a cross-section and surface defect) and local EDS analysis, comparison of chromaticity and color difference, evaluation of adhesion and adhesive bond strength, and a salt spray test, a condition status table was prepared and applied to the specimen. Based on the results of applying the completed condition status table in the future, it is judged that it can be an objective data onto conservation treatment of outdoor painted sculptures and public artworks.
Applicability of Phenoxyethanol as a Preservative in Animal Glue for Dancheong
Authors: Ryu Ga Yeong , Kim Ji Yun , Han Kyeong Soon
Published: July 2023

The animal glue used as a vehicle in dancheong easily rots, thereby not allowing easy storage and usability. Therefore, the study explored a method of delaying the rate of rotting through a method of adding preservatives to the animal glue, which increases resistance against microorganisms. For the preservative, the study selected the best condition in terms of preservative efficacy out of three conditions (Phenoxyethanol, Phenoxyethanol : Ethylhexylglycerin (9 : 1), alum) through the use of biological experimentation. Consequently, the study found that the exclusive use of phenoxyethanol demonstrated the highest level of preservative effect. The preservative efficacy under this condition was proportional to the mixing concentration of the preservative, and in particular, the initial growth rate of mold was roughly 1.4 to 2 times lower than the condition where no preservatives were added. Based on these results, a material properties evaluation and a weathering test were used to observe the impact of phenoxyethanol on the material properties and the colored layer of the animal glue. Ultimately, the impact of phenoxyethanol on the viscosity, pH of animal glue, and chromaticity of the colored layer was small. Discoloration and flaking characteristic due to degradation was similar to a condition of not applying phenoxyethanol. The study confirmed phenoxyethanol to be stable in term s of the m aterial properties and the colored layer of the anim al glue for up to a m axim um of 20% of the weight of the animal glue. Simultaneously, phenoxyethanol was confirmed to improve the preservative efficacy of the animal glue.
Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects
Authors: Naseer Hammael , Rasid Amir , Majeed Asifa , Ali Baig Zunaira
Published: July 2023

Objective: To find possible association of R1939W and P1987R variants of OTOF gene with severe to profound NSSHL in cochlear implant subjects.

Methods: It was a case control study, conducted from June 2021 to February 2022, comprising 50 cases of severe to profound NSSHL who had received cochlear implant from ENT Department, CMH Rawalpindi and 50 age-matched healthy controls from PEMH Rawalpindi. Blood samples were collected from all the subjects, followed by DNA extraction and allele-specific polymerase chain reaction, performed at Multi-disciplinary Laboratory of Department of Biochemistry and Molecular Biology, Army Medical College Rawalpindi. Statistical analysis was done using ‘SPSS’ and ‘XLSTAT’, followed by genetic analysis using ‘SNPstat’.

Results: Mean age of the cases was 5.96 ± 4.62 years (N=50), comprising 58% males and 42% females. All had bilateral and prelingual HL. Parental consanguinity was 72%, whereas 62% cases had a positive family history of deafness. Alleles of R1939W and P1987R were not associated with NSSHL, as shown by their p values of 0.56 and 0.89 respectively. For R1939W ORs were 0.71 (dominant model) and 0.80 (overdominant model), indicating negative association with NSSHL. Regarding P1987R OR was 0.96 (log-additive model). Genotypes of both variants were not in HW Equilibrium (p <0.0001), whereas their alleles showed high LD (D’=0.92).

Conclusion: High percentage of parental consanguinity was observed among cochlear implant candidates. The OTOF variants R1939W and P1987R were found to have protective roles against NSSHL in study population.

doi: https://doi.org/10.12669/pjms.39.5.6393

How to cite this: Naseer H, Rashid A, Majeed A, Baig ZA. Association of R1939W and P1987R variants of Otoferlin (OTOF) gene with severe to profound nonsyndromic sensorineural hearing loss in Pakistani subjects. Pak J Med Sci. 2023;39(5):---------.  doi: https://doi.org/10.12669/pjms.39.5.6393

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Cause of death and influencing factors of chronic renal failure on maintenance hemodialysis
Authors: Fan Xing , Li Jing , Bi Zhao-yu , Liang Wei , Wang Feng-juan
Published: July 2023

Objective: To investigate the causes of death in patients with chronic renal failure (CRF) on maintenance hemodialysis and its influencing factors.

Methods: This is a retrospective study. A total of 300 patients with chronic renal failure undergoing maintenance hemodialysis who were admitted to the Affiliated Hospital of Hebei University from March 2020 to October 2022 were selected as subjects. Various information of patients were collected. In addition, 80 dead patients in this group were investigated for the cause of death, including cardiovascular and cerebrovascular diseases, infections, multi organ failure, and other causes, and the death-related conditions of cardiovascular and cerebrovascular diseases, such as triglyceridr,,total cholesterol, and in blood lipid levels were analyzed.

Results: Among the 80 dead patients, cardiovascular and cerebrovascular diseases accounted for a higher proportion of death (66%). Univariate Logistic regression analysis showed that advanced age, plasma homocysteine, blood parathyroid hormone, hyperphosphatemia, hypertension, high volume load and left ventricular hypertrophy were risk factors for death in patients with chronic renal failure on maintenance hemodialysis. Multivariate Logistic regression analysis showed that high volume load, left ventricular hypertrophy and anemia were risk factors for death on maintenance hemodialysis. The levels of hemoglobin (HGB) and high-density lipoprotein (HDL) in patients who died of cardiovascular and cerebrovascular diseases were significantly lower than those in the non-cardio-cerebrovascular death group (P=0.00), and the levels of serum phosphorus, TG and TC were significantly higher than those in the non-cardio-cerebrovascular death group (P, P=0.00; TG, P=0.02; TC, P=0.01).

Conclusion: Cardiovascular and cerebrovascular diseases are the leading cause of death in patients with chronic renal failure on maintenance hemodialysis. Adequate dialysis and normal hemoglobin levels are favorable protective factors.

doi: https://doi.org/10.12669/pjms.39.5.7037

How to cite this: Fan X, Li J, Bi Z, Liang W, Wang F. Cause of death and influencing factors of chronic renal failure on maintenance hemodialysis. Pak J Med Sci. 2023;39(5):---------. doi: https://doi.org/10.12669/pjms.39.5.7037

This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by/3.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
Impact of sodium fluoride and nano silver fluoride-based varnishes on remineralisation of enamel caries: an in-vitro study
Authors: Deulkar Pranjali Vilas , Rathi Nilesh , Thosar Nilima , Deshpande Meghana Ajay , Bane Sphurti Pramod
Published: July 2023

Background: The aim of this study was to perform a comparative evaluation of 5% Sodium fluoride varnish, neutral nano silver fluoride (NSF) varnish and acidulated nano silver fluoride varnish in remineralising artificially induced enamel caries of primary teeth.

Methods: 39 primary anterior teeth were sectioned 2mm below the cemento-enamel junction (CEJ) and mounted in acrylic resin blocks. Incipient enamel caries were induced on the samples artificially and primary Vicker’s surface microhardness (SMH) was assessed. Samples were divided equally and applied varnishes; Group 1: 5% Sodium fluoride varnish; Group 2: Neutral NSF varnish, and Group 3: Acidulated NSF varnish. A pH cycling protocol of 7 days was followed, and second Surface microhardness (SMH) testing was carried out. One sample from each group was observed for Scanning electron microscopy and Energy Dispersive Spectroscopy (SEM EDS). Statistical analysis was conducted using HSD Tukey and one way ANOVA tests.

Results: There was a statistically significant difference between the pre-treatment and post-treatment values of all three groups. The difference in SMH after applying 5% Sodium fluoride varnish and acidulated NSF varnish was statistically significant (p<0.01). Similarly, neutral NSF varnish and acidulated NSF varnish also showed statistical significance (p<0.01). However, SMH after application of 5% Sodium fluoride varnish and neutral NSF varnish was statistically not significant.

The SEM EDS analysis revealed the presence of an even fine granular layer of minerals on the surface of treated enamel in the acidulated NSF group whereas other groups showed uneven deposits of minerals. EDS showed fluoride and silver in groups containing NSF.

Conclusions: Acidulated NSF varnish has the highest efficacy followed by neutral NSF varnish and 5% Sodium fluoride in remineralisation of enamel caries in primary teeth.
Interventions to support adolescents and young adults with the healthcare transition from paediatric to adult nephrology health services: A scoping review protocol
Authors: Kinch Melissa , Kroll Thilo , Stokes Diarmuid , Somanadhan Suja
Published: July 2023

Background: Due to technological advancements and improved medical management of adolescents and young adults (AYAs) living with renal disease, there has been an exponential increase noted in the number of patients advancing from the paediatric to adult nephrology healthcare setting. Subsequently, more AYAs are required to undergo the process of healthcare transition from paediatric to adult healthcare services. This process is often a challenging period for young people and families and is often associated with a decline in physical and psychosocial health outcomes of AYAs with renal disorders. To ensure a successful transition, AYAs must develop the ability to manage their renal condition, including the medical and psychosocial aspects of their condition, independently. Despite significant research into the transition from paediatric to adult healthcare for this unique patient cohort, the transition period remains a challenge. The scoping review will aim to map, explore, and understand the interventions that are currently available to offer positive perceptions and experiences of transition for both AYAs living with renal disorders and their families.

Methods: A systematic literature search will be conducted of PubMed, PsycInfo, CINAHL, ASSIA, EMBASE and Web of Science databases from the year 2000 to present. Two independent reviewers will screen the peer-reviewed literature obtained and assess them against the inclusion criteria to determine their inclusion eligibility. Data will be extracted and synthesised using a template refined by the authors. The scoping review will be undertaken in accordance with PRISMA-ScR guidelines. Data will undergo a formal critical appraisal using recognised appraisal tools.

Conclusions: Through mapping this knowledge, the scoping review will aim to identify interventions that are currently available and identify gaps within the literature. This evidence may support the development of transitional care interventions in the future, promote patient satisfaction, and improve patient outcome measures and experiences.
The Role of the Energy Sector in Ensuring the Economic Security of the Russian Federation
Authors: Gretchenko A. , Gretchenko A. , Garnov Andrey
Published: July 2023

The article presents the results of a study conducted by its authors. The purpose of the study was to identify and assess the degree of influence of the state of the Russian energy sector on the level of economic security of the country. The analysis of the features and current state of the Russian energy sector, including the country’s position in the world energy markets, is carried out. The main energy factors that pose both internal and external threats to Russia’s national economic security have been identified. Measures are proposed to improve Russia’s domestic and foreign energy policy.
Efficiency Analysis of the Regional Level Transport and Logistics Hub
Authors: Moskvin D. , Panov A.
Published: July 2023

The article discusses methods for assessing the effectiveness of transport and logistics hub at the regional level on the example of the Nizhny Novgorod region. A comparative analysis of various models for various forms of organization of such centers is carried out. Of greatest interest is the inventory flow model, on the basis of which it is advisable to develop a functional model with a block-hierarchical structure of a regional hub, which provides for various options for the movement and consolidation of resources.
Development of the Production of Meat and Dairy Products As a Factor in Ensuring the Country's Food Security
Authors: Yarnyh E. , Bashina O. , Agentova G.
Published: July 2023

The purpose of the study is to analyze the change in the volume of livestock production for all categories of agricultural producers. The first category is represented by agricultural organizations, including business partnerships and companies, production cooperatives, unitary enterprises, subsidiary farms of non-agricultural organizations and institutions. The second category is household households, which include personal subsidiary farms and other individual farms of citizens who have plots in horticultural or horticultural non-profit associations. The third category is personal subsidiary plots for the production and processing of agricultural products in household and field plots. Along with production, the presented article discusses the directions for using the produced meat and dairy products, the structure of production, product losses. In addition, the dynamics of changes in the fleet of agricultural machinery is presented, as well as an analysis of the impact of the number and labor productivity of workers engaged in agricultural production for 2010–2020. to the level of agricultural production.

The main objective of the study is to identify opportunities to improve the efficiency of the livestock sector of the agro-industrial complex.

The paper identifies the main directions of the development potential of the livestock sector of the agro-industrial complex.
Introduction of Innovative Methods to Stimulate Demand in the Activities of the Hotel Enterprise
Authors: Nikol'skaya E. , Galkin D. , Gadimova F.
Published: July 2023

The article is devoted to the problems of applying methods to stimulate demand for the services of a hotel enterprise. The results of the analysis of the structure of consumer demand for hotels of various categories and methods for stimulating demand for services in the hotel business are presented, which made it possible to develop practical recommendations for the introduction of innovative methods of generating demand in an uncertain environment.
Turismo y favelas en la ciudad de Río de Janeiro en las décadas de 1960 y 1970: imágenes turísticas y políticas de remoción
Authors: De Morais Bastos Denise
Published: July 2023

La política pública dominante en la ciudad de Río de Janeiro, Brasil, en relación con las favelas durante las décadas de 1960 y 1970 fue la remoción, especialmente de aquellas ubicadas en las zonas nobles de la ciudad y que poseían las vistas más privilegiadas. Los desalojos fueron defen­didos en los periódicos, la vida cotidiana de estas comunidades fue investigada por fotografías producidas para periódicos y analizada a través de la lente de documentalistas como Sérgio Péo. La investigación partió de la pregunta sobre el papel que jugó el turismo en el discurso que defendía el desalojo de estas favelas. El estudio se realizó mediante el método indiciario, como propone el historiador italiano Carlo Ginzburg, y se apoyó en investigaciones realizadas en los campos de estudio del turismo, el cine y la historia. Los resultados sugieren que el desa­rrollo del turismo en la ciudad ha integrado el discurso a favor de la eliminación de las favelas.
Incidencia ciudadana a través de la auditoría social: veedurías ciudadanas y planeación urbana en Bogotá
Authors: Agüero Samuel N. , Montero Sergio
Published: July 2023

Este artículo examina la transformación y aumento en el uso de mecanismos de auditoría so­cial por parte de la ciudadanía, para incidir en asuntos de planeación urbana en Bogotá. Para ello, analizamos los cambios legales e institucionales de la figura de las veedurías ciudadanas que facilitaron su transformación de un mecanismo de vigilancia de los contratos públicos a una herramienta con capacidad de modificar e incluso bloquear proyectos estratégicos de la ciudad. Sin embargo, no todas las veedurías logran incidir en la planeación urbana. Con base en una revisión documental y 15 entrevistas con funcionarios locales y líderes de cinco veedu­rías ciudadanas, argumentamos tres aspectos clave que explican el éxito de las veedurías con mayor incidencia en asuntos de planeación: (1) equipos interdisciplinares con énfasis en lo téc­nico y lo legal; (2) conexión directa con representantes políticos, y (3) capacidad de movilizar en la opinión pública un modelo de ciudad atractivo para las clases altas y medias ilustradas. Concluimos con un llamado a considerar con más atención los aspectos legales, contractuales y jurisdiccionales de la planeación en las discusiones sobre incidencia y gobernanza urbana, así como el rol de las clases medias en la planeación de la ciudad latinoamericana.
A NARRATIVA-ESCREVIVÊNCIA COMO POSSIBILIDADE DE RESISTÊNCIA POLÍTICA
Authors: SILVA Queiti Cristina Pereira , Sanches Carmen Silva
Published: July 2023

O presente artigo compartilha a minha assunção por caminhos teóricos-metodológicos enquanto pesquisadora que opta em sua dissertação de mestrado por se afastar dos modos tradicionais e positivistas e/ou hegemônicos de se fazer pesquisa em que o conhecimento para ser legitimado precisa ser medido, quantificado e validado por uma ciência moderna contemporânea, racista e hegemônica que exclui negros do processo de produção do conhecimento (ROSA, BRITO; PINHEIRO, 2020). Aproximo-me, assim de modos de pesquisar que acolham uma pesquisa escrita em primeira pessoa, onde minha escrita esteja articulada com as experiências vividas por mim enquanto mulher negra e professora de educação infantil no território de favela. Para isso, utilizo-me das escrevivências (EVARISTO, 2020) como instrumento metodológico e como possibilidade de narrar o vivido (LIMA; GERALDI; GERALDI, 2015), evocando experiências cotidianas em um discurso que é enunciado de dentro da minha própria realidade. No texto, defendo a literatura como possibilidade de potencializar a construção das identidades, o fortalecimento e a valorização do pertencimento negro em que narrativas promovem o encantamento e a descoberta da beleza de ser negro e a denúncia da condição subalterna que a sociedade insiste em nos colocar enquanto mulher e negra, em especial no ambiente acadêmico, em que nossas vozes são sistematicamente silenciadas e o conhecimento advindo da experiência é refutado sistematicamente.
DOSSIÊ:QUANDO AS PERIFERIAS PESQUISAM: teorias e metodologias insurgentes
Authors: De Arruda Nicolaiewsky Clarissa , Silva do Nascimento Diogo , Cezar da Silva Correia Lourenço
Published: July 2023

Dossiê organizado por Clarissa de Arruda Nicolaiewsky, Diogo Silva do Nascimento e Lourenço Cezar da Silva.