bluuebunny/crossref_metadata_2025 huggingface dataset:
Psychometric properties of the Arabic translation of the Dark Future Scale questionnaire in a non-clinical sample of Arabic-speaking young adults
Authors: Karam Joya-Maria , Malaeb Diana , Hallit Rabih , Fekih-Romdhane Feten , Obeid Sahar , Hallit Souheil
Published: June 2024

Background

Through the years, studying negative behaviors of the worldwide population seized the spotlight from many researchers who focused on building scales in order the measure the level of worries, fear and even depression of such stressed individuals. By definition, “Future anxiety” (FA) is fueled by negative thoughts leading to intense fear of unknown future events. The Dark Future scale (DFS) measures the level of anxiety experienced towards the future. Our aim was to examine the psychometric properties of a novel Arabic translation of the DFS.

Methods

A sample of 684 Arabic-speaking young adults (65.6% women) filled the DFS, TEMPS-M (temperaments) and DASS-8 (psychological distress).

Results

Confirmatory factor analyses (CFA) supported a unidimensional model of the DFS score, with all 5 items retained. This scale had good reliability. Moreover, concurrent validity demonstrated significant associations between DFS scores and psychological distress, depressive, cyclothymic, irritable and anxious temperament. Scores achieved scalar invariance across gender, with women having greater exposure to anxiety about the future.

Conclusion

Overall, these findings led to the conclusion that the Arabic DFS is a psychometrically valid tool for the assessment of FA. The DFS is a brief, reliable and easy to apply scale that would help researchers in psychology and psychiatry in assessing anxiety about future.
Adaption and validation of the Rwandese version of the Young Mania Rating Scale to measure the severity of a manic or hypomanic episode
Authors: Musoni-Rwililiza E. , Arnbjerg C. J. , Rurangwa N. U. , Bendtsen M. G. , Carlsson J. , Kallestrup P. , Vindbjerg E. , Gishoma D.
Published: June 2024

Background

Bipolar Disorder is one of the most incapacitating diseases among young persons, leading to cognitive and functional impairment and raised mortality, particularly death by suicide. Managing a manic episode and developing new and more effective treatment modalities requires sensitive and reliable instruments. This study aims to translate the English version of the YMRS questionnaire into Kinyarwanda, adapt it to the Rwandan context, and assess its validity.

Methods

The original English version of The Young Mania Rating Scale questionnaire was translated into Kinyarwanda. The translation process followed a standardized approach, including back-translation, cross-cultural adaptation, and final adjustments. A total of 130 inpatients with bipolar disorder in a manic episode from CARAES Ndera Teaching Hospital were included. The descriptive statistics and test–retest correlations were carried out, as well as the CFA for validation and Rasch-analysis.

Results

The Rwandese version of The Young mania rating scale had an adequate internal consistency (Cronbach’s alpha = 0.90). Item 11 provided the lowest standardized loading in both ratings (0.51 and 0.55). The second lowest loading involved the highly correlated item pairs 5 & 9, with item 5 loading 0.51 in rating 1 and item 9 loading 0.57 in rating 2. The remaining loadings ranged from 0.59 to 0.79. This relatively narrow range indicated that a fit to a Rasch model was plausible if excluding item 11.

Conclusion

The findings demonstrate that the translated YMRS, the R-YMRS, can be used as a reliable and valid instrument for assessing mania in the Rwandese population in clinical and research settings. However, the results supported using an unweighted total score of 32 and removing items 5, 9, and 11. Studies on this revised scale with an added interview guide for less-trained clinical staff are recommended.
Factors associated with hookworm and Schistosoma mansoni infections among school-aged children in Mayuge district, Uganda
Authors: Kim Eun Seok , Adriko Moses , Oseku Kabarangira Christine , Lokure David , Webb Emily L. , Sabapathy Kalpana
Published: June 2024

Background

Hookworm infection and schistosomiasis are two of sub-Saharan Africa's most common neglected tropical diseases. An annual mass drug administration (MDA) program against schistosomiasis and soil-transmitted helminths (STHs), including hookworm, has been implemented in Mayuge district, Uganda, since 2003 to date. However, hookworm and schistosomiasis remain prevalent in Mayuge district. Understanding the factors that predispose children to these infections in the context of MDA could inform interventions to reduce prevalence in Uganda and similar settings.

Method

This cross-sectional study took place in 33 randomly selected primary schools in the Mayuge district from January to February 2022. Children in primary classes 4 or 5, in the selected schools provided single stool samples and completed questionnaires. Stool specimens were examined using the Kato-Katz method to determine the prevalence of hookworm and schistosomiasis. We performed univariable and multivariable logistic regression to assess the associations of each infection with potential risk factors.

Result

A total of 1,617 students (mean age 12.1 years, 50.1% male) were enrolled. The prevalence of hookworm infection and schistosomiasis was 21.8% (95% confidence interval (CI): 19.8–23.9%) and 18.7% (95% CI: 16.8–20.7%), respectively. In multivariable analysis, longer water fetching time (over 30 min versus less than 30 min) and working daily in the soil were associated with increased odds of hookworm infection (adjusted odds ratio (AOR): 1.49, 95% CI: 1.13–1.96 and 1.37, 95% CI: 1.03–1.82, respectively). Higher odds of schistosomiasis were linked to proximity to water bodies within a one-hour walking distance (AOR: 1.84, 95% CI: 1.35–2.50), and not always washing hands before eating (AOR: 2.00, 95% CI: 1.50–2.67). Swimming, bathing, or washing in water bodies twice a week, compared to never, also increased schistosomiasis odds (AOR: 2.91, 95% CI: 1.66–5.13).

Conclusion

Consistent with the mechanisms of acquisition, hookworm infection increased with exposure to soil, and schistosomiasis increased with exposure to unclean water. Our findings highlight the importance of Water, Sanitation, and Hygiene programs and strategies aimed at reducing exposure within the framework of Neglected Tropical Disease elimination programs.
An international perspective on young stroke incidence and risk factors: a scoping review
Authors: Amoah Dinah , Schmidt Matthew , Mather Carey , Prior Sarah , Herath Manoja P. , Bird Marie-Louise
Published: June 2024

Background

Stroke among younger age groups is increasing globally. While there is a focus on research conducted on people under 65 years who have had a stroke, there is a paucity of data on the incidence and risk factors of stroke among younger people (≤ 30 years). This scoping review examines evidence on incidence and risk factors for perinatal, paediatric and young adult stroke globally.

Methods

The review was guided by the Joanna Briggs Institute’s scoping review methodology. A systematic search was conducted on 23rd March 2022 across Medline Ovid, Embase, PsycINFO and Cumulative Index to Nursing and Allied Health Literature (CINAHL). The eligibility criteria included all study designs providing information on the incidence and risk factors of stroke among young people (≤ 30 years) in the last ten years.

Results

A total of 5750 articles were identified. After screening, 471 articles (224 cohort studies (47.6%), 164 case studies/case series (34.8%), 35 reviews (7.4%), 30 case-control (6.4%) and 18 combinations of designs (3.8%) were included. There was data from 50 different countries, 199 studies were from high-income countries, upper and middle income (n = 38), lower middle-income (n = 39), low-income (n = 3) countries, international study (n = 7) and a further 185 articles did not state the country of research. Most of the studies (63%) focused on risk factors while incidence constituted 37%. Incidence data were reported heterogeneously across studies, leading to an inability to synthesise data. The three most frequently reported risk factors for perinatal stroke were infections, cardiac conditions, and intrapartum factors. Vasculopathies, infection and cardiac conditions accounted for most reported risk factors for paediatric stroke, while chronic conditions such as diabetes mellitus, vasculopathies and cardiac conditions accounted for the most reported risk factors among young adults.

Conclusion

This review has highlighted different stroke risk factors for each age cohort of people under 30 years. The low number of epidemiological studies suggests that further research of this type is needed to fully understand the incidence and risk factors in young stroke. A standardised reporting of age groupings of incidence data is imperative to enable the comparison of data from different geographical locations.
Sex differences in the use of mechanical ventilation in a neurointensive care population: a retrospective study
Authors: Stretti Federica , Utebay Didar , Bögli Stefan Yu , Brandi Giovanna
Published: June 2024

Background

In the general intensive care unit (ICU) women receive invasive mechanical ventilation (IMV) less frequently than men. We investigated whether sex differences in the use of IMV also exist in the neurocritical care unit (NCCU), where patients are intubated not only due to respiratory failure but also due to neurological impairment.

Methods

This retrospective single-centre study included adults admitted to the NCCU of the University Hospital Zurich between January 2018 and August 2021 with neurological or neurosurgical main diagnosis. We collected data on demographics, intubation, re-intubation, tracheotomy, and duration of IMV or other forms of respiratory support from the Swiss ICU registry or the medical records. A descriptive statistics was performed. Baseline and outcome characteristics were compared by sex in the whole population and in subgroup analysis.

Results

Overall, 963 patients were included. No differences between sexes in the use and duration of IMV, frequency of emergency or planned intubations, tracheostomy were found. The duration of oxygen support was longer in women (men 2 [2, 4] vs. women 3 [1, 6] days, p = 0.018), who were more often admitted due to subarachnoid hemorrhage (SAH). No difference could be found after correction for age, diagnosis of admission and severity of disease.

Conclusion

In this NCCU population and differently from the general ICU population, we found no difference by sex in the frequency and duration of IMV, intubation, reintubation, tracheotomy and non-invasive ventilation support. These results suggest that the differences in provision of care by sex reported in the general ICU population may be diagnosis-dependent. The difference in duration of oxygen supplementation observed in our population can be explained by the higher prevalence of SAH in women, where we aim for higher oxygenation targets due to the specific risk of vasospasm.
Patient safety in orthodontic care: a scoping literature review with proposal for terminology and future research agenda
Authors: Ferlias Nikolaos , Michelotti Ambrosina , Stoustrup Peter
Published: June 2024

Background

Knowledge about patient safety in orthodontics is scarce. Lack of standardisation and a common terminology hinders research and limits our understanding of the discipline. This study aims to 1) summarise current knowledge about patient safety incidents (PSI) in orthodontic care by conducting a systematic literature search, 2) propose a new standardisation of PSI terminology and 3) propose a future research agenda on patient safety in the field of orthodontics.

Methods

A systematic literature search was performed in the main online sources of PubMed, Web of Science, Scopus and OpenGrey from their inception to 1 July 2023. Inclusion criteria were based on the World Health Organization´s (WHO) research cycle on patient safety. Studies providing information about the cycle’s steps related to orthodontics were included. Study selection and data extraction were performed by two of the authors.

Results

A total of 3,923 articles were retrieved. After review of titles and abstracts, 41 articles were selected for full-text review and 25 articles were eligible for inclusion. Seven provided information on the WHO’s research cycle step 1 (“measuring harm”), twenty-one on “understanding causes” (step 2) and twelve on “identifying solutions” (step 3). No study provided information on Steps 4 and 5 (“evaluating impact” or “translating evidence into safer care”).

Conclusion

Current evidence on patient safety in orthodontics is scarce due to a lack of standardised reporting and probably also under-reporting of PSIs. Current literature on orthodontic patient safety deals primarily with “measuring harms” and “understanding causes of patient safety”, whereas less attention has been devoted to initiatives “identifying solutions”, “evaluating impact” and “translating evidence into safer care”. The present project holds a proposal for a new categorisation, terminology and future research agenda that may serve as a framework to support future research and clinical initiatives to improve patient safety in orthodontic care.

Registration

PROSPERO (CRD42022371982).
Efficacy and underlying mechanisms of three-circle post standing qigong on insomnia in college students: a four-arm, double-blind, randomized controlled trial protocol
Authors: Xu Ming-min , Li Nan , Hu Tian-nuo , Zhou Zheng-kun , Chen Yue , Huang Xue , Wei Yulong , Guo Yu
Published: June 2024

Background

Insomnia is common in college students, but its impact on health and wellbeing is often neglected. Enhancing sleep quality through targeted interventions could improve overall health and reduce the risk of consequent co-morbidities and mental health problems. Qigong exercises have been shown to significantly improve sleep quality and relieve insomnia. Three-circle Post Standing (TCPS) can help integrate body, breath, and mind, a fundamental principle of Qigong that promotes holistic wellbeing. In this clinical trial, we aim to (1) evaluate the feasibility, safety, and therapeutic efficacy of administering TCPS to improve sleep quality and quality of life in college students with insomnia; (2) explore the neurophysiological mechanisms underlying the mind adjustments mediated by TCPS in insomnia; (3) investigate body and breath pathophysiology mediated by TCPS in insomnia; and (4) assess the long-term efficacy of TCPS in terms of sleep quality and quality of life.

Methods

This will be a prospective, parallel, four-arm, double-blind randomized controlled trial to investigate the effects and underlying mechanisms of TCPS on college students with insomnia. One hundred college students meeting diagnostic criteria for insomnia will be randomly assigned to receive either 14 weeks of standardized TCPS training (two weeks of centralized training followed by 12 weeks of supervised training) or sham-control Post Standing training. Efficacy outcomes including sleep quality, quality of life, neurophysiological assessments, plantar pressure, biomechanical balance, and physical measures will be collected at baseline, eight weeks (mid-point of supervised training), and 14 weeks (end of supervised training). Sleep quality and quality of life will also be evaluated during the four- and eight-week follow-up.

Discussion

This trial will be an important milestone in the development of new therapeutic approaches for insomnia and should be easily implementable by college students with insomnia. The neuro- and pathophysiological assessments will provide new insights into the mechanisms underlying TCPS.

Clinical trial registration

This trial has been registered in the China Clinical Trials Registry (registration number: ChiCTR2400080763).
Cytokinetic engineering enhances the secretory production of recombinant human lysozyme in Komagataella phaffii
Authors: Zhong Yong-Jun , Luo Yang-Yang , Xia Haiyang , Zhao Qing-Wei , Mao Xu-Ming
Published: June 2024

Background

Human lysozyme (hLYZ) is a natural antibacterial protein with broad applications in food and pharmaceutical industries. Recombinant production of hLYZ in Komagataella phaffii (K. phaffii) has attracted considerable attention, but there are very limited strategies for its hyper-production in yeast.

Results

Here through Atmospheric and Room Temperature Plasma (ARTP)-based mutagenesis and transcriptomic analysis, the expression of two genes MYO1 and IQG1 encoding the cytokinesis core proteins was identified downregulated along with higher hLYZ production. Deletion of either gene caused severe cytokinesis defects, but significantly enhanced hLYZ production. The highest hLYZ yield of 1,052,444 ± 23,667 U/mL bioactivity and 4.12 ± 0.11 g/L total protein concentration were obtained after high-density fed-batch fermentation in the Δmyo1 mutant, representing the best production of hLYZ in yeast. Furthermore, O-linked mannose glycans were characterized on this recombinant hLYZ.

Conclusions

Our work suggests that cytokinesis-based morphology engineering is an effective way to enhance the production of hLYZ in K. phaffii.
Unprovoked venous thromboembolism recurrence and arterial embolism revealing lung cancer: a case report
Authors: Glodeanu Maria-Cristina , Mutruc Victoria , Apetrei Camelia-Maria , Ursaru Manuela , Sorodoc Laurentiu , Lionte Catalina
Published: June 2024

The link between venous thromboembolism (VTE) and cancer is well known. VTE could be the initial sign of an occult malignancy. There are more diagnoses of cancer after an unprovoked VTE compared to a provoked VTE, with a reported prevalence between 4.5% and 5.6% over 12 months, within the first 6 months of VTE diagnosis. There are no recommended guidelines and scores yet adopted in clinical practice, but many studies support occult cancer screening in unprovoked VTE patients. We report the case of a patient with a history of unprovoked pulmonary embolism (PE) diagnosed with bronchopulmonary neoplasm in an advanced stage one year after the thromboembolic event. When the cancer was first diagnosed, the patient’s condition was already serious, being too late for the adoption of measures meant to decrease the risk of mortality and increase the duration of survival. We wanted to emphasize the importance of occult cancer screening in patients with unprovoked VTE and the fact that early cancer diagnosis reduces the risk of cancer progression, decreasing mortality and morbidity related to it.
Activation of kappa opioid receptor suppresses post-traumatic osteoarthritis via sequestering STAT3 on the plasma membrane
Authors: Liu Haixia , Huang Renhuan , Zhuo Ziang , Zhang Xinru , Wu Ling , Guo Zhen , Wen Fuping , An Liwei , Yuan Hang , Zhang Yiming , Xu Yuanzhi
Published: June 2024

Objective

Kappa opioid receptor (KOR) signaling is involved in joint development and inflammation in Osteoarthritis (OA), while the biochemical mechanism remains unclarified. This study aims to investigate downstream molecular events of KOR activation, to provide novel perspectives in OA pathology.

Methods

U50,488H, a selective KOR agonist, was intra-articularly injected in mice upon destabilization of the medial meniscus (DMM) as OA models, with PBS injection as control. The behavioral and histological evaluation was assessed by hot plate test and red solid green staining, respectively. Alterations in mRNA and protein expression were assessed by RNA-seq, RT-qPCR, immunohistochemistry and western blotting (WB) in chondrocytes treated with TNF-α or TNF-α + U50,488H. Proteins interacted with KOR were explored using proximity labeling followed by mass spectrometry and then testified by co-immunoprecipitation (Co-IP) assay and immunofluorescence (IF).

Results

OA-induced pain was reduced and cartilage degeneration was alleviated upon KOR activation in DMM mice. In chondrocytes, activation of KOR reversed the upregulation of MMPs, IL-6, IL-1β and phosphorylated(p-) STAT3, stimulated by TNF-α, while the expression of NF-κB, MAPKs and AKT signaling weren't reversed. RNA-seq and IF results presented that KOR activation evidently reduced STAT3 nuclear translocation in chondrocytes upon TNF-α stimuli. The reduction may be resulted from the binding of KOR and STAT3 in the plasma membrane, revealed by proximity labeling and Co-IP results.

Conclusions

KOR activation protects cartilage from OA, and this protective effect is mainly exerted via sequestering STAT3 on the plasma membrane, resulting in inactivation of STAT3-dependent immune responses which otherwise contributes to OA.
Automatic gait events detection with inertial measurement units: healthy subjects and moderate to severe impaired patients
Authors: Voisard Cyril , de l’Escalopier Nicolas , Ricard Damien , Oudre Laurent
Published: June 2024

Background

Recently, the use of inertial measurement units (IMUs) in quantitative gait analysis has been widely developed in clinical practice. Numerous methods have been developed for the automatic detection of gait events (GEs). While many of them have achieved high levels of efficiency in healthy subjects, detecting GEs in highly degraded gait from moderate to severely impaired patients remains a challenge. In this paper, we aim to present a method for improving GE detection from IMU recordings in such cases.

Methods

We recorded 10-meter gait IMU signals from 13 healthy subjects, 29 patients with multiple sclerosis, and 21 patients with post-stroke equino varus foot. An instrumented mat was used as the gold standard. Our method detects GEs from filtered acceleration free from gravity and gyration signals. Firstly, we use autocorrelation and pattern detection techniques to identify a reference stride pattern. Next, we apply multiparametric Dynamic Time Warping to annotate this pattern from a model stride, in order to detect all GEs in the signal.

Results

We analyzed 16,819 GEs recorded from healthy subjects and achieved an F1-score of 100%, with a median absolute error of 8 ms (IQR [3–13] ms). In multiple sclerosis and equino varus foot cohorts, we analyzed 6067 and 8951 GEs, respectively, with F1-scores of 99.4% and 96.3%, and median absolute errors of 18 ms (IQR [8–39] ms) and 26 ms (IQR [12–50] ms).

Conclusions

Our results are consistent with the state of the art for healthy subjects and demonstrate a good accuracy in GEs detection for pathological patients. Therefore, our proposed method provides an efficient way to detect GEs from IMU signals, even in degraded gaits. However, it should be evaluated in each cohort before being used to ensure its reliability.
CRISPR/Cas9-mediated knock out of ITGB6 in human OSCC cells reduced migration and proliferation ability
Authors: Geyer Maximilian , Geyer Fabian , Reuning Ute , Klapproth Sarah , Wolff Klaus-Dietrich , Nieberler Markus
Published: June 2024

Background

The treatment of oral squamous cell carcinoma (OSCC) remains challenging and survival rates have not been improved significantly over the past decades. Integrins have been recognized driving the cancer progression and high expression levels cause poor outcomes in patients afflicted with OSCC. Integrin αvβ6 and its subunit integrin beta 6 (ITGB6) were discovered to enhance the invasiveness by providing beneficial effects on downstream pathways promoting the cancer progression. The objective of this study was to establish a CRISPR/Cas9-mediated knock out of ITGB6 in the human OSCC cell line HN and investigate the effects on the migration and proliferation ability.

Methods

ITGB6 knock out was performed using the CRISPR/Cas9-system, RNPs, and lipofection. Monoclonal cell clones were achieved by limiting dilution and knock out verification was carried out by sanger sequencing and FACS on protein level. The effects of the knock out on the proliferation and migration ability were evaluated by using MTT and scratch assays. In addition, in silico TCGA analysis was utilized regarding the effects of ITGB6 on overall survival and perineural invasion.

Results

In silico analysis revealed a significant impact of ITGB6 mRNA expression levels on the overall survival of patients afflicted with OSCC. Additionally, a significantly higher rate of perineural invasion was discovered. CRISPR/Cas9-mediated knock out of ITGB6 was performed in the OSCC cell line HN, resulting in the generation of a monoclonal knock out clone. The knock out clone exhibited a significantly reduced migration and proliferation ability when compared to the wildtype.

Conclusions

ITGB6 is a relevant factor in the progression of OSCC and can be used for the development of novel treatment strategies. The present study is the first to establish a monoclonal CRISPR/Cas9-mediated ITGB6 knockout cell clone derived from an OSCC cell line. It suggests that ITGB6 has a significant impact on the proliferative and migratory capacity in vitro.
Prevalence and barriers to early initiation of breastfeeding among urban poor full-time readymade garments working mothers: a mixed-methods study in Bangladesh
Authors: Islam Md. Rabiul , Tamanna Tasnim , Mohsin Nusrat Azrin , Tanha Arifa Farzana , Sheba Nusrat Hossain , Hannan JMA
Published: June 2024

Background

Early initiation of breastfeeding is the initiation of breastfeeding within one hour of birth, which plays a significant role in a born baby’s growth and survival, however its prevalence and predictors among urban full-time readymade garments (RMG) working mothers are not investigated. The purpose of this study is to determine the prevalence and factors affecting early initiation of breastfeeding among urban RMG working mothers.

Methods

A sequential explanatory mixed-methods study was conducted between March 2023 and December 2023 in Dhaka, Bangladesh. A total of 452 full-time female RMG workers were included for the quantitative study. Qualitative study was carried out among 30 full-time female RMG workers, four female physicians who were employed in the RMGs, four RMG factory managers, and four local pediatricians.

Results

The prevalence of early initiation of breastfeeding was 40% among the women. It was significantly associated with various factors, including socio-cultural barriers, the advanced age of the mother (AOR 3.93, 95%CI 1.18, 13.04), lack of education (AOR 6.86, 95%CI 1.11, 42.49), lack of awareness, and cultural practices such as initiating goat milk and honey instead of breast milk. The absence of colostrum feeding (AOR 8.96, 95%CI 4.30, 18.70) and pre-lacteal feeding (AOR 0.06, 95%CI 0.03, 0.11) were significant baby feeding practice-related barriers to early initiation of breastfeeding. Maternal health factors, notably post-delivery sickness, cesarean delivery, and lack of breastmilk production, were revealed as a significant hindrance to the early initiation of breastfeeding explored from qualitative analysis. In addition, RMG factory-related factors that significantly affect early initiation of breastfeeding include a strong focus on production, a busy schedule, and a lack of initiative regarding the early initiation of breastfeeding.

Conclusions

The prevalence of early initiation of breastfeeding among RMG working women is poor. This study emphasizes the need for interventions that address specific challenges of early initiation of breastfeeding faced by working mothers in RMG sectors, including improved lactation education, increased awareness to mitigate cultural barriers, RMG factory-based initiatives to empower female workers early initiation of breastfeeding, and preparing early initiation of breastfeeding -friendly post-cesarean unit at the health care facility.
Current situation of osteogenesis imperfecta in Spain: results from a Delphi study
Authors: Sagastizabal Belén , Calvo Inmaculada , Martínez-Ferrer Àngels , Clancy James , Pérez Álvaro , Gil Alicia , Bou Rosa
Published: June 2024

Background

Osteogenesis imperfecta (OI) is a rare disease characterized by low bone mass and bone fragility, associated with an increased risk of fractures, and skeletal and extra-skeletal symptoms that results in an impairment of health-related quality of life of OI patients. Since published studies on OI in Spain are limited, this study aimed to determine the epidemiology, assessed the disease burden, management and unmet needs of OI patients in Spain. Thirty-four experts in the management of patients with osteogenesis imperfecta completed two rounds of online consultation and reported real-life experience and data from Spanish hospitals. Delphi study questionnaires were based on literature review. A working group of nationally recognized clinical experts supported the development of the study questionnaires and the final validation of results.

Results

The estimated prevalence of patients diagnosed with OI in Spain is 0.56:10,000 inhabitants (95%CI: 0.54–0.59), which represents that, approximately, 2,669 OI patients are currently managed in Spanish hospitals. It is estimated that approximately 269 new patients would be diagnosed with OI each year in Spain, representing an estimated incidence of 0.06 (95%CI: 0.05–0.06) per 10,000 inhabitants per year. Clinical management of OI in Spain is performed by a range of medical specialists; however, multidisciplinary care is not fully implemented. The absence of an approved curative treatment or a treatment to reduce the clinical features of the disease remains the main unmet need.

Conclusions

This study provides a snapshot of the current situation of patients with OI in Spain reported by clinical experts. The results provide an estimation of the epidemiology of the disease, and complement the available evidence on disease burden, clinical management, and unmet needs of these patients in Spain.
Urolithin A promotes p62-dependent lysophagy to prevent acute retinal neurodegeneration
Authors: Jiménez-Loygorri Juan Ignacio , Viedma-Poyatos Álvaro , Gómez-Sintes Raquel , Boya Patricia
Published: June 2024

Background

Age-related macular degeneration (AMD) is the leading cause of blindness in elderly people in the developed world, and the number of people affected is expected to almost double by 2040. The retina presents one of the highest metabolic demands in our bodies that is partially or fully fulfilled by mitochondria in the neuroretina and retinal pigment epithelium (RPE), respectively. Together with its post-mitotic status and constant photooxidative damage from incoming light, the retina requires a tightly-regulated housekeeping system that involves autophagy. The natural polyphenol Urolithin A (UA) has shown neuroprotective benefits in several models of aging and age-associated disorders, mostly attributed to its ability to induce mitophagy and mitochondrial biogenesis. Sodium iodate (SI) administration recapitulates the late stages of AMD, including geographic atrophy and photoreceptor cell death.

Methods

A combination of in vitro, ex vivo and in vivo models were used to test the neuroprotective potential of UA in the SI model. Functional assays (OCT, ERGs), cellular analysis (flow cytometry, qPCR) and fine confocal microscopy (immunohistochemistry, tandem selective autophagy reporters) helped address this question.

Results

UA alleviated neurodegeneration and preserved visual function in SI-treated mice. Simultaneously, we observed severe proteostasis defects upon SI damage induction, including autophagosome accumulation, that were resolved in animals that received UA. Treatment with UA restored autophagic flux and triggered PINK1/Parkin-dependent mitophagy, as previously reported in the literature. Autophagy blockage caused by SI was caused by severe lysosomal membrane permeabilization. While UA did not induce lysosomal biogenesis, it did restore upcycling of permeabilized lysosomes through lysophagy. Knockdown of the lysophagy adaptor SQSTM1/p62 abrogated viability rescue by UA in SI-treated cells, exacerbated lysosomal defects and inhibited lysophagy.

Conclusions

Collectively, these data highlight a novel putative application of UA in the treatment of AMD whereby it bypasses lysosomal defects by promoting p62-dependent lysophagy to sustain proteostasis.

Graphical Abstract
Using GPT-4 to write a scientific review article: a pilot evaluation study
Authors: Wang Zhiping Paul , Bhandary Priyanka , Wang Yizhou , Moore Jason H.
Published: June 2024

GPT-4, as the most advanced version of OpenAI’s large language models, has attracted widespread attention, rapidly becoming an indispensable AI tool across various areas. This includes its exploration by scientists for diverse applications. Our study focused on assessing GPT-4’s capabilities in generating text, tables, and diagrams for biomedical review papers. We also assessed the consistency in text generation by GPT-4, along with potential plagiarism issues when employing this model for the composition of scientific review papers. Based on the results, we suggest the development of enhanced functionalities in ChatGPT, aiming to meet the needs of the scientific community more effectively. This includes enhancements in uploaded document processing for reference materials, a deeper grasp of intricate biomedical concepts, more precise and efficient information distillation for table generation, and a further refined model specifically tailored for scientific diagram creation.
Wnt/β-catenin signaling pathway in carcinogenesis and cancer therapy
Authors: Song Pan , Gao Zirui , Bao Yige , Chen Li , Huang Yuhe , Liu Yanyan , Dong Qiang , Wei Xiawei
Published: June 2024

The Wnt/β-catenin signaling pathway plays a crucial role in various physiological processes, encompassing development, tissue homeostasis, and cell proliferation. Under normal physiological conditions, the Wnt/β-catenin signaling pathway is meticulously regulated. However, aberrant activation of this pathway and downstream target genes can occur due to mutations in key components of the Wnt/β-catenin pathway, epigenetic modifications, and crosstalk with other signaling pathways. Consequently, these dysregulations contribute significantly to tumor initiation and progression. Therapies targeting the Wnt/β-catenin signaling transduction have exhibited promising prospects and potential for tumor treatment. An increasing number of medications targeting this pathway are continuously being developed and validated. This comprehensive review aims to summarize the latest advances in our understanding of the role played by the Wnt/β-catenin signaling pathway in carcinogenesis and targeted therapy, providing valuable insights into acknowledging current opportunities and challenges associated with targeting this signaling pathway in cancer research and treatment.
Development of reciprocal connections between the dorsal lateral geniculate nucleus and the thalamic reticular nucleus
Authors: Campbell Peter W , Govindaiah Gubbi , Guido William
Published: June 2024

The thalamic reticular nucleus (TRN) serves as an important node between the thalamus and neocortex, regulating thalamocortical rhythms and sensory processing in a state dependent manner. Disruptions in TRN circuitry also figures prominently in several neurodevelopmental disorders including epilepsy, autism, and attentional defects. An understanding of how and when connections between TRN and 1st order thalamic nuclei, such as the dorsal lateral geniculate nucleus (dLGN), develop is lacking. We used the mouse visual thalamus as a model system to study the organization, pattern of innervation and functional responses between TRN and the dLGN. Genetically modified mouse lines were used to visualize and target the feedforward and feedback components of these intra-thalamic circuits and to understand how peripheral input from the retina impacts their development.

Retrograde tracing of thalamocortical (TC) afferents through TRN revealed that the modality-specific organization seen in the adult, is present at perinatal ages and seems impervious to the loss of peripheral input. To examine the formation and functional maturation of intrathalamic circuits between the visual sector of TRN and dLGN, we examined when projections from each nuclei arrive, and used an acute thalamic slice preparation along with optogenetic stimulation to assess the maturation of functional synaptic responses. Although thalamocortical projections passed through TRN at birth, feedforward axon collaterals determined by vGluT2 labeling, emerged during the second postnatal week, increasing in density through the third week. Optogenetic stimulation of TC axon collaterals in TRN showed infrequent, weak excitatory responses near the end of week 1. During weeks 2–4, responses became more prevalent, grew larger in amplitude and exhibited synaptic depression during repetitive stimulation. Feedback projections from visual TRN to dLGN began to innervate dLGN as early as postnatal day 2 with weak inhibitory responses emerging during week 1. During week 2–4, inhibitory responses continued to grow larger, showing synaptic depression during repetitive stimulation. During this time TRN inhibition started to suppress TC spiking, having its greatest impact by week 4–6. Using a mutant mouse that lacks retinofugal projections revealed that the absence of retinal input led to an acceleration of TRN innervation of dLGN but had little impact on the development of feedforward projections from dLGN to TRN. Together, these experiments reveal how and when intrathalamic connections emerge during early postnatal ages and provide foundational knowledge to understand the development of thalamocortical network dynamics as well as neurodevelopmental diseases that involve TRN circuitry.
Minimally invasive stabilization using screws and cement for acetabular metastatic tumor: a case report
Authors: Chen Yang , Akbar Yunus , Xiang Haibin , Yadikan Yashengjiang , Cao Guoqing , Ju Xiaowei , Wu Xiaoguang , Wang Shiwen
Published: June 2024

Background

The aim of this case report is to evaluate minimally invasive stabilization using screws and cement for acetabular metastatic tumor and summarize the indications and contraindications for minimally invasive stabilization of acetabular metastatic tumors with screw and cement techniques.

Case presentation

Under imaging guidance, a patient with acetabular metastatic tumor was treated with hollow screw combined with bone cement fixation. Ischial screw, ascending branch screw, and anterior and posterior screws were inserted to firmly fix the anterior and posterior column of the acetabulum. At the same time, the third screw connected the anterior and posterior columns together, combined with bone cement into the fracture site to further increase local stability and resist bone defects caused by local tumor osteolysis. The patient was a 52-year-old Uygur male. Herein, we summarize his clinical symptoms and operation. Differences in visual analog scale and walking function (Musculoskeletal Tumor Society) before operation and at 2 months, 6 months, and 12 months after operation were compared.

Results

Postoperative complications and tumor progression were recorded. The patient was followed up for 16 months, and the operative time was 60 minutes. In total, 20 ml of bone cement was injected into the acetabular posterior column and the top of the acetabulum. VIsual analog scale score was 8 before operation, 3 at 2 months, 3 at 6 months, and 2 at 12 months after operation. Musculoskeletal Tumor Society function was 13 before operation, 23 at 2 months, 25 at 6 months, and 26 at 12 months after operation. During follow-up, no cement leakage, fever, hip nerve injury, pulmonary embolism, or imaging findings of further destruction of the acetabulum and surrounding bone were noted.

Conclusion

This case report shows that the treatment of acetabular metastatic cancer with minimally invasive stabilization using screws and cement under the C arm can effectively relieve pain and enhance the strength of the pelvis, and is innovative and feasible.
Successful treatment of iatrogenic internal carotid artery pseudoaneurysm following carotid endarterectomy with thrombin injection: a case report
Authors: Jiang Changchun , Liu Jiahui , Zhuo Na , Wei Jianqi , Fan Yu
Published: June 2024

Background

Iatrogenic pseudoaneurysms arising from the internal carotid artery subsequent to carotid endarterectomy are exceptionally infrequent. Herein, we present a case detailing an internal carotid artery pseudoaneurysm that manifested subsequent to a hybrid carotid endarterectomy and endovascular therapy intervention. Our approach to managing this condition involved a novel technique wherein thrombin was directly injected into the luminal cavity of the pseudoaneurysm under the guidance of a C-arm.

Case presentation

A 66-year-old male patient of Chinese ethnicity exhibited a 4-month history of headache and a 20-day history of gait disturbance. Digital subtraction angiography revealed occlusion in the cervical region of the left carotid artery. Following a hybrid surgical procedure, the patient reported mild pain and bruising surrounding the incision site of the left internal carotid artery endarterectomy. Subsequent angiography identified the presence of a carotid artery pseudoaneurysm. Utilizing C-arm guidance, thrombin was then directly injected into the luminal cavity of the pseudoaneurysm, resulting in complete healing during follow-up.

Conclusion

For the management of pseudoaneurysms arising post carotid endarterectomy, the direct injection of thrombin into the aneurysm cavity under the guidance of a C-arm is deemed both safe and efficacious.
Role of SYT11 in human pan-cancer using comprehensive approaches
Authors: Noh Kyunghee , Choi Hyunji , Jo Eun-Hye , Yoo Wonbeak , Park Kyung Chan
Published: June 2024

Background

Synaptotagmin 11 (SYT11) plays a pivotal role in neuronal vesicular trafficking and exocytosis. However, no independent prognostic studies have focused on various cancers. In this study, we aimed to summarize the clinical significance and molecular landscape of SYT11 in various tumor types.

Methods

Using several available public databases, we investigated abnormal SYT11 expression in different tumor types and its potential clinical association with prognosis, methylation profiling, immune infiltration, gene enrichment analysis, and protein–protein interaction analysis, and identified common pathways.

Results

TCGA and Genotype-Tissue Expression (GTEx) showed that SYT11 was widely expressed across tumor and corresponding normal tissues. Survival analysis showed that SYT11 expression correlated with the prognosis of seven cancer types. Additionally, SYT11 mRNA expression was not affected by promoter methylation, but regulated by certain miRNAs and associated with cancer patient prognosis. In vitro experiments further verified a negative correlation between the expression of SYT11 and miR-19a-3p in human colorectal, lung, and renal cancer cell lines. Moreover, aberrant SYT11 expression was significantly associated with immune infiltration. Pathway enrichment analysis revealed that the biological and molecular processes of SYT11 were related to clathrin-mediated endocytosis, Rho GTPase signaling, and cell motility-related functions.

Conclusions

Our results provide a clear understanding of the role of SYT11 in various cancer types and suggest that SYT11 may be of prognostic and clinical significance.
Feature reduction for hepatocellular carcinoma prediction using machine learning algorithms
Authors: Mostafa Ghada , Mahmoud Hamdi , Abd El-Hafeez Tarek , ElAraby Mohamed E.
Published: June 2024

Hepatocellular carcinoma (HCC) is a highly prevalent form of liver cancer that necessitates accurate prediction models for early diagnosis and effective treatment. Machine learning algorithms have demonstrated promising results in various medical domains, including cancer prediction. In this study, we propose a comprehensive approach for HCC prediction by comparing the performance of different machine learning algorithms before and after applying feature reduction methods. We employ popular feature reduction techniques, such as weighting features, hidden features correlation, feature selection, and optimized selection, to extract a reduced feature subset that captures the most relevant information related to HCC. Subsequently, we apply multiple algorithms, including Naive Bayes, support vector machines (SVM), Neural Networks, Decision Tree, and K nearest neighbors (KNN), to both the original high-dimensional dataset and the reduced feature set. By comparing the predictive accuracy, precision, F Score, recall, and execution time of each algorithm, we assess the effectiveness of feature reduction in enhancing the performance of HCC prediction models. Our experimental results, obtained using a comprehensive dataset comprising clinical features of HCC patients, demonstrate that feature reduction significantly improves the performance of all examined algorithms. Notably, the reduced feature set consistently outperforms the original high-dimensional dataset in terms of prediction accuracy and execution time. After applying feature reduction techniques, the employed algorithms, namely decision trees, Naive Bayes, KNN, neural networks, and SVM achieved accuracies of 96%, 97.33%, 94.67%, 96%, and 96.00%, respectively.
Genome-wide analysis and characterization of the peptides containing tyrosine sulfation (PSY) gene family in Triticum aestivum L. unraveling their contributions to both plant development and diverse stress responses
Authors: Kesawat Mahipal Singh , Kherawat Bhagwat Singh , Ram Chet , Manohar Swati , Kumar Santosh , Chung Sang-Min , Alharbi Sulaiman Ali , Ansari Mohammad Javed , Lenka Sangram K.
Published: June 2024

Background

Small-secreted peptides are increasingly recognized as a novel class of intracellular signal molecules, playing crucial roles in plant growth and development. However, the precise role and mechanism governed by peptides containing Tyrosine Sulfation (PSY) are still under investigation. Currently, there is a lack of accessible information concerning the PSY gene family in wheat.

Results

Therefore, in this investigation, we identified 29 PSY genes in Triticum aestivum, with the aim of unraveling their significance in plant development processes and their response to a variety of stress conditions. Phylogenetic analysis showed that TaPSY genes clustered into five groups. Additionally, an analysis of the gene structure of TaPSYs displayed a conserved evolutionary path. The syntenic relationship demonstrated the 69 orthologous gene pairs in T. dicoccoides, Ae. tauschii, T. turgidum, and H. vulgare, respectively. Furthermore, the Ka/Ks analysis indicated that TaPSY genes have experienced purifying selection during their evolutionary processes. The promoters of TaPSY genes were found to contain numerous CAREs, and these elements are known to perform essential functions in various development processes, phytohormone responses, as well as defense and stress mechanisms. In addition, the identification of potential miRNAs targeting TaPSY genes was followed by an examination of their expression patterns across various tissues. Among the 29 TaPSY genes, twenty miRNAs were discovered to target eighteen of them. Moreover, TaPSY genes displayed a distinct expression across different tissues and stress conditions.

Conclusions

Hence, these discoveries offer a significant reference point for forthcoming molecular investigations and hold promise for bolstering wheat yield and stress resilience through targeted genetic enhancements and strategic breeding approaches.

Graphical Abstract