bluuebunny/crossref_metadata_2025 huggingface dataset:
Music, families and interaction (MUFASA): a protocol article for an RCT study
Authors: Jacobsen Stine L. , Gattino Gustavo , Holck Ulla , Bøtker Julie Ørnholt
Published: November 2022

Background

General mental health and interpersonal skills of families are crucial to children's development and future. Research suggests a link between participation in music activities and individuals' own sense of mental health, as well as an effect in objective measures of health such as quality of life, social skills, and rehabilitation of various kinds. However, in Denmark there are not many services for families with school-aged children (7–12 years) that focus on prevention and strengthening family interaction hereby minimising the risk of children not thriving and developing optimally in terms of social and emotional skills and competences. The purpose of this study is to investigate the effect of shared music activities on family interaction, parental stress, and child well-being.

Methods

The study is a controlled effect study where 40 family dyads from Aalborg and Aarhus are randomized into 4 different groups including music therapy activities, community music, family concerts and a control group. Measurements of family interaction (Assessment of Parent Child Interaction, APCI) and mental health (Parental Stress Scale, PSS, and the Strengths and Difficulties Questionnaire, SDQ) will be made at baseline/pre intervention, at post intervention and a follow-up measurement 12 month after baseline (month 1, 3 and 12) 3 times in total. Furthermore, data about the family dyad’s regular participation in music events as part of every-day life at the same measure points (month 1, 3 and 12). Since this is a planned prospective study, results are not yet available, but clinical experience from a feasibility study in 2021 were promising and expected challenges and changes are discussed in the article.

Discussion

Findings of this study will be relevant for all fields where music is applied for families, such as education, mental health, social work and for basic research on the study of music and interaction. Music used as a resource for families is crucial in understanding how different modalities can influence the family interaction including emotional communication and attachment.

Trial registration: ISRCTN, ISRCTN17290015, Registered 03 March 2022,https://www.isrctn.com/ISRCTN17290015

Date and protocol version

July 2022, version 1. Protocol is planned to be updated after finalized recruitment during second data collection point and again after the third and last data collection point (see Additional file 1: SPIRIT Checklist).
Examining similarity indicators in six planned capital cities from Africa and Asia: a qualitative research technique
Authors: Abusaada Hisham , Elshater Abeer
Published: November 2022

There is little research-based evidence regarding the similarities and differences in urban plans and urban forms, regarding urban planning and design, between planned capital cities in Africa and Asia. In recognition of the establishment of planned capital cities on these continents, this article limited its case studies to six planned capital cities of the Global South, in the post-independence and post-crisis period. By using bibliometric analysis, snowballing technique, and content analysis approaches, this study determines data sources, including books, journals, city reports, and internet blogs. The results show that these planned capital cities are similar in their urban plans: geographical, socio-cultural and demographic dimensions (location, size, and population densities), historical context of societies, and their goals and aspirations. Meanwhile, urban forms have similarities and differences based on paradigms, organization and spatial formation, spatial arrangement of activities, and architectural artefacts. This study suggests a conceptual and phasal framework, which combines planning history and theory in the first phase, and urban planning and design implementations in the second phase. The results demonstrate how considering our framework can limit similarities in the urban plans and urban forms of planned capital cities. This framework can guide urban planners and designers in academia and professional practice.
Modeling the impact of L2 grit on EFL learners’ core of self-assessment and foreign language anxiety
Authors: Heydarnejad Tahereh , Ismail Sayed M. , Shakibaei Goodarz , Saeedian Abdulbaset
Published: November 2022

Learners’ personality traits and self-assessment have an essential role in their academic achievement and the well-being of society. Although L2 grit and the core of self-assessment (CSA) have attracted considerable attention in educational research, few studies have focused on the impact of L2 grit on boosting CSA and managing foreign language anxiety (FLA). Drawing upon this existing research gap, the present study set forth to test a structural model of English as a Foreign Language (EFL) university learners’ L2 grit, CSA, and FLA. The language-domain-specific grit scale (LDSGS), the core of self-assessments questionnaire (CSAQ), and the Foreign Language Classroom Anxiety Scale (FLCAS) were administered to 418 Iranian EFL university learners. The findings of structural equation modeling (SEM) reflected the contributions of L2 grit and CSA to overcoming language learners’ experienced anxiety. Furthermore, the significant influence of EFL learners’ CSA on FLA was concluded. The implications of the findings are to raise learners’ awareness of their personality traits and self-assessment that can foster effective language instruction and assessment.
Single-cell spatial proteomic imaging for human neuropathology
Authors: Vijayaragavan Kausalia , Cannon Bryan J. , Tebaykin Dmitry , Bossé Marc , Baranski Alex , Oliveria J. P. , Bukhari Syed A. , Mrdjen Dunja , Corces M. Ryan , McCaffrey Erin F. , Greenwald Noah F. , Sigal Yari , Marquez Diana , Khair Zumana , Bruce Trevor , Goldston Mako , Bharadwaj Anusha , Montine Kathleen S. , Angelo R. Michael , Montine Thomas J. , Bendall Sean C.
Published: November 2022

Neurodegenerative disorders are characterized by phenotypic changes and hallmark proteopathies. Quantifying these in archival human brain tissues remains indispensable for validating animal models and understanding disease mechanisms. We present a framework for nanometer-scale, spatial proteomics with multiplex ion beam imaging (MIBI) for capturing neuropathological features. MIBI facilitated simultaneous, quantitative imaging of 36 proteins on archival human hippocampus from individuals spanning cognitively normal to dementia. Customized analysis strategies identified cell types and proteopathies in the hippocampus across stages of Alzheimer’s disease (AD) neuropathologic change. We show microglia-pathologic tau interactions in hippocampal CA1 subfield in AD dementia. Data driven, sample independent creation of spatial proteomic regions identified persistent neurons in pathologic tau neighborhoods expressing mitochondrial protein MFN2, regardless of cognitive status, suggesting a survival advantage. Our study revealed unique insights from multiplexed imaging and data-driven approaches for neuropathologic analysis and serves broadly as a methodology for spatial proteomic analysis of archival human neuropathology.

Teaser

Multiplex Ion beam Imaging enables deep spatial phenotyping of human neuropathology-associated cellular and disease features.
Quality characteristics of strawberry fruit following a combined treatment of laser sterilization and guava leaf-based chitosan nanoparticle coating
Authors: Ali Liela Mohamed , Ahmed Abd El‑Rahman Abd El‑Raouf , Hasan Helmy El‑Sayed , Suliman Ahmed El‑Raie Emam , Saleh Sherif Saied
Published: November 2022

Background

Strawberry fruit is a rich source of antioxidants that are beneficial for human health. However, the rapid decline of strawberries dramatically reduces the shelf life and raises postharvest losses. To develop an efficient and ecological approach for maintaining the quality, strawberries (Fragaria x ananassa, cv. Festival) were treated with 0.5% chitosan coating (0.5% Ch), guava leaf-based chitosan nanoparticles coating (Gl-ChNps), and a combination treatment of 1.3 mW/cm2 laser light followed by Gl-ChNps coating (combined treatment), then stored for 12 days at 10 °C and 85–90% RH. The untreated fruit served as a control.

Results

Semi-spherical particles with an average size of 21.92 nm, a monodisperse nature, and high solution stability were formed. The findings revealed that the combined treatment completely suppressed fungal decay compared to 50% decay in control, and significantly reduced weight loss percentage to 4.68% compared to 27.35% in control. In accordance, the combined treatment had the maximum anthocyanin content and vitamin C, at 42 and 81.1 mg/100 g, respectively. The results showed that treated strawberries had less change in color, total soluble solids, titratable acidity, and pH during storage than untreated strawberries, which exhibited higher chemical changes.

Conclusions

The edible film of chitosan nanoparticles acted as a semi-permeable barrier that modified and restricted gas exchange, reduced water loss, and delayed fruit senescence. In addition, the combination of laser light with chitosan nanoparticles has been shown to control the pathogens and retain the freshness of strawberries.

Graphical Abstract
Trace-element analysis of mineral grains in Ryugu rock fragment sections by synchrotron-based confocal X-ray fluorescence
Authors: Bazi Benjamin , Tack Pieter , Lindner Miles , Vekemans Bart , De Pauw Ella , Tkalcec Beverley , Brenker Frank E. , Garrevoet Jan , Falkenberg Gerald , Yabuta Hikaru , Yurimoto Hisayoshi , Nakamura Tomoki , Amano Kana , Matsumoto Megumi , Fujioka Yuri , Enokido Yuma , Nakashima Daisuke , Uesugi Masayuki , Naraoka Hiroshi , Noguchi Takaaki , Okazaki Ryuji , Sakamoto Kanako , Yada Toru , Nishimura Masahiro , Nakato Aiko , Miyazaki Akiko , Yogata Kasumi , Abe Masanao , Okada Tatsuaki , Usui Tomohiro , Yoshikawa Makoto , Saiki Takanao , Tanaka Satoshi , Terui Fuyuto , Nakazawa Satoru , Tachibana Shogo , Watanabe Sei-ichiro , Tsuda Yuichi , Vincze Laszlo
Published: November 2022

A fundamental parameter-based quantification scheme for confocal XRF was applied to sub-micron synchrotron radiation X-ray fluorescence (SR-XRF) data obtained at the beamline P06 of the Deutsches Elektronen-Synchrotron (DESY, Hamburg, Germany) from two sections C0033-01 and C0033-04 that were wet cut from rock fragment C0033 collected from Cb-type asteroid (162173) Ryugu by JAXA’s Hayabusa2 mission. Trace-element quantifications show that C0033 bulk matrix is CI-like, whereas individual mineral grains (i.e., magnetite, pyrrhotite, dolomite, apatite and breunnerite) show, depending on the respective phase, minor to strong deviations. The non-destructive nature of SR-XRF coupled with a new PyMca (a Python toolkit for XRF data analysis)-based quantification approach, performed in parallel with the synchrotron experiments, proves to be an attractive tool for the initial analysis of samples from return missions, such as Hayabusa2 and OSIRIS-REx, the latter returning material from a B-type asteroid (101955) Bennu in 2023.

Graphical Abstract
Pathophysiology of fluid administration in critically ill patients
Authors: Messina Antonio , Bakker Jan , Chew Michelle , De Backer Daniel , Hamzaoui Olfa , Hernandez Glenn , Myatra Sheila Nainan , Monnet Xavier , Ostermann Marlies , Pinsky Michael , Teboul Jean-Louis , Cecconi Maurizio
Published: November 2022

Fluid administration is a cornerstone of treatment of critically ill patients. The aim of this review is to reappraise the pathophysiology of fluid therapy, considering the mechanisms related to the interplay of flow and pressure variables, the systemic response to the shock syndrome, the effects of different types of fluids administered and the concept of preload dependency responsiveness. In this context, the relationship between preload, stroke volume (SV) and fluid administration is that the volume infused has to be large enough to increase the driving pressure for venous return, and that the resulting increase in end-diastolic volume produces an increase in SV only if both ventricles are operating on the steep part of the curve. As a consequence, fluids should be given as drugs and, accordingly, the dose and the rate of administration impact on the final outcome. Titrating fluid therapy in terms of overall volume infused but also considering the type of fluid used is a key component of fluid resuscitation. A single, reliable, and feasible physiological or biochemical parameter to define the balance between the changes in SV and oxygen delivery (i.e., coupling “macro” and “micro” circulation) is still not available, making the diagnosis of acute circulatory dysfunction primarily clinical.
High-efficiency secretory expression and characterization of the recombinant type III human-like collagen in Pichia pastoris
Authors: Xiang Zhi-Xiang , Gong Jin-Song , Shi Jin-Hao , Liu Chun-Fang , Li Heng , Su Chang , Jiang Min , Xu Zheng-Hong , Shi Jin-Song
Published: November 2022

Collagen, the highest content protein in the body, has irreplaceable biological functions, and it is widespread concerned in food, beauty, and medicine with great market demand. The gene encoding the recombinant type III human-like collagen α1 chain fragment was integrated into P. pastoris genome after partial amino acids were substituted. Combined with promoter engineering and high-density fermentation technology, soluble secretory expression with the highest yield of 1.05 g L−1 was achieved using two-stage feeding method, and the purity could reach 96% after affinity purification. The determination of N/C-terminal protein sequence were consistent with the theoretical expectation and showed the characteristics of Gly-X-Y repeated short peptide sequence. In amino acid analysis, glycine shared 27.02% and proline 23.92%, which were in accordance with the characteristics of collagen. Ultraviolet spectrum combined with Fourier transform infrared spectroscopy as well as mass spectrometry demonstrated that the target product conformed to the characteristics of collagen spectrums and existed as homologous dimer and trimer in the broth. This work provided a sustainable and economically viable source of the recombinant type III human-like collagen.

Graphical Abstract
Effects of lighting conditions and accommodation on the three-dimensional position of Visian implantable collamer lens
Authors: Niu Lingling , Zhang Zhe , Miao Huamao , Zhao Jing , Wang Xiaoying , He Ji C. , Zhou Xingtao
Published: November 2022

Background

To investigate the effects of lighting conditions and accommodation on the three-dimensional position of Visian implantable collamer lens (ICL V4c).

Methods

This observational study recruited 62 eyes of 31 myopia patients underwent ICL V4c implantation. Anterior segment optical coherence tomography (AS-OCT) assessed the anterior chamber depth (ACD), ACD-ICL (distance from the corneal endothelium to anterior surface of the ICL V4c), vault (distance between the posterior ICL V4c surface and anterior crystalline lens surface), and crystalline lens tilt under various lighting conditions and accommodation relative to the corneal topographic axis at one year after ICL V4c implantation. Baseline was defined as the scotopic condition, which was also the non-accommodative stimulus condition. The ICL V4c tilt was analyzed using MATLAB. The significance level was set at P < 0.05.

Results

The ACD-ICL values were similar under various lighting conditions (P = 0.978) but decreased during accommodation (P < 0.001). The vault was significantly smaller under mesopic and photopic conditions than the baseline (P = 0.044 and P < 0.001, respectively) but remained unchanged during accommodation (P = 0.058). The inferotemporal proportion of ICL V4c (88.7%, 55 eyes) and crystalline lens (74.2%, 46 eyes) tilts were not significantly different (P = 0.063). Crystalline lens under various lighting conditions and accommodation exhibited similar tilts. The vertical tilt of ICL V4c was significantly larger under photopic conditions than the baseline (P = 0.038). The horizontal and total tilts were significantly decreased during accommodation (P = 0.043 and 0.013, respectively).

Conclusions

The axial position of ICL V4c in the anterior chamber was stable under various lighting conditions. Lighting conditions and accommodation may influence vertical, horizontal and total tilts of ICL V4c.
Bringing anchoring and embedding together: theorising migrants’ lives over-time
Authors: Grzymala-Kazlowska Aleksandra , Ryan Louise
Published: November 2022

In this paper, we bring together two concepts that we have been developing separately over recent years, to challenge linear and simplistic notions of migrant integration, depict multi-dimensional processes of settling and changeability over time. The concept of embedding has been proposed to capture dynamism beyond the more static notion of Granovetter’s embeddedness. The concept explores the contexts and contingencies of where and how migrants establish different degrees of attachment in different places and through different social relationships. Also the concept of anchoring has been developed to offer an antireductionist processual and multi-dimensional understanding of migrant adaptation and settling, highlighting the issues of security and stability. In this paper, using longitudinal research, we explore for the first time how bringing our two concepts together may offer additional insights and understandings of migrants’ experiences of and responses to the uncertainties and complexities of contemporary society, exacerbated by Brexit.
Assessment of inflammatory markers and their association with disease mortality in severe COVID-19 patients of tertiary care hospital in South India
Authors: Devang Nayana , Sreelatha Souparnika , B. V. Mamatha
Published: November 2022

Background

COVID-19 infection involves a complex interplay of the immunological and inflammatory responses. Low blood-oxygen levels have been a hallmark in COVID-19 patients. The lung tissue damage infiltered by the viral-mediated inflammation decreases oxygen saturation to cause silent hypoxia and cell death. This study aimed to evaluate the association of inflammatory biomarkers with oxygen saturation (SpO2) and mortality in severe COVID-19 patients.

Methods

A total of 190 severe COVID-19 patients were included in this study after confirmed by the RT-PCR assay. The laboratory tests were performed for biochemical assessment. Serum levels of C-reactive protein (CRP), lactate dehydrogenase (LDH), and ferritin were determined and compared between survivors and nonsurvivors using independent sample t-test. The correlation of these inflammatory markers was studied using Spearman’s correlation, and their association with mortality was studied using logistic regression.

Results

All the COVID-19 patients were severe with SpO2< 90% and respiratory rate > 30/min. While the serum levels of CRP, LDH, ferritin, aspartate transaminase (AST), urea, and random blood sugar (RBS) were elevated, hemoglobin (Hb) and SpO2 levels were reduced in COVID-19 patients. LDH and ferritin levels were significantly higher in nonsurvivors compared to survivors with p values of 0.001 and 0.022 respectively. Spearman’s correlation showed a significant correlation of the inflammatory markers with SpO2, serum electrolytes (potassium, chloride), liver enzymes (AST and alanine transaminase (ALT)), and markers of kidney damage (urea, creatinine).

Conclusion

Inflammatory markers could effectively discriminate the risk of mortality in severe COVID-19 patients. As CRP, LDH, and ferritin levels determine the tissue oxygen availability, they seem to be valuable biomarkers in the prognosis of COVID-19.
IRONMAN: A Novel International Registry of Men With Advanced Prostate Cancer
Authors: Mucci Lorelei A. , Vinson Jacob , Gold Theresa , Gerke Travis , Filipenko Julie , Green Rebecca M. , Anderson Simon G. , Badal Simone , Bjartell Anders , Chi Kim N. , Davis Ian D. , Enting Deborah , Fay André P. , Lazarus John , Mateo Joaquin , McDermott Ray , Odedina Folakemi T. , Olmos David , Omlin Aurelius , Popoola Ademola A. , Ragin Camille , Roberts Robin , Russnes Kjell M. , Waihenya Charles , Stopsack Konrad H. , Hyslop Terry , Villanti Paul , Kantoff Philip W. , George Daniel J. ,   on behalf of the IRONMAN Global Team
Published: November 2022

PURPOSE

To describe a newly established international registry recruiting diverse patients with advanced prostate cancer across academic and community practices to address unmet needs in this population.

PATIENTS AND METHODS

Initiated in 2017, IRONMAN (International Registry for Men with Advanced Prostate Cancer) is a prospective cohort of patients with advanced prostate cancer. The study will enroll 5,000 patients with metastatic hormone-sensitive prostate cancer (mHSPC) or castration-resistant prostate cancer (CRPC), recruited from Australia, the Bahamas, Barbados, Brazil, Canada, Ireland, Jamaica, Kenya, Nigeria, Norway, South Africa, Spain, Sweden, Switzerland, the United Kingdom, and the United States. The study is collecting datatypes to study variation in care and treatment of advanced prostate cancer across countries and across academic, community-based, and government practices with a focus on clinical outcomes, patient-reported outcomes, epidemiologic data, biologic subtypes, and clinician questionnaires.

RESULTS

Through July 2022, 2,682 eligible patients were enrolled in 11 of 12 active countries. Sixty-six percent of patients have mHSPC, and 34% have CRPC. On the basis of self-report, 11% of patients are Black and 9% are Hispanic. Five Veterans Affairs Medical Centers are enrolling patients. Globally, 23% of patients report being veterans of military service.

CONCLUSION

To our knowledge, this is the first international cohort of people newly diagnosed with advanced prostate cancer designed to describe variations in patient management, experiences, and outcomes. IRONMAN aims to identify optimal treatment sequences to improve survival, understand patient-reported outcomes, and explore novel biomarkers to understand treatment resistance mechanisms. Insights from IRONMAN will inform and guide future clinical management of people with mHSPC and CRPC. This cohort study will provide real-world evidence to facilitate a better understanding of the survivorship of people with advanced prostate cancer.
Optimal Treatment Duration of Bevacizumab as Front-Line Therapy for Advanced Ovarian Cancer: AGO-OVAR 17 BOOST/GINECO OV118/ENGOT Ov-15 Open-Label Randomized Phase III Trial
Authors: Pfisterer Jacobus , Joly Florence , Kristensen Gunnar , Rau Joern , Mahner Sven , Pautier Patricia , El-Balat Ahmed , Kurtz Jean-Emmanuel , Canzler Ulrich , Sehouli Jalid , Heubner Martin L. , Hartkopf Andreas D. , Baumann Klaus , Hasenburg Annette , Hanker Lars C. , Belau Antje , Schmalfeldt Barbara , Denschlag Dominik , Park-Simon Tjoung-Won , Selle Frédéric , Jackisch Christian , Burges Alexander , Lück Hans-Joachim , Emons Günter , Meier Werner , Gropp-Meier Martina , Schröder Willibald , de Gregorio Nikolaus , Hilpert Felix , Harter Philipp
Published: November 2022

PURPOSE

To compare standard versus extended duration of bevacizumab treatment in combination with front-line chemotherapy in women with newly diagnosed stage IIB-IV ovarian cancer.

METHODS

In this multicenter, open-label, randomized phase III trial (ClinicalTrials.gov identifier: NCT01462890 ), patients with newly diagnosed International Federation of Gynecology and Obstetrics stage IIB-IV epithelial ovarian, fallopian tube, or peritoneal cancer underwent primary cytoreductive surgery followed by six cycles of chemotherapy (paclitaxel 175 mg/m2 plus carboplatin area under the curve 5 once every 3 weeks) and bevacizumab (15 mg/kg once every 3 weeks). Patients were randomly assigned 1:1 to receive bevacizumab for either 15 or 30 months, stratified by International Federation of Gynecology and Obstetrics stage/residual tumor. The primary end point was investigator-assessed progression-free survival (PFS) according to RECIST version 1.1. Secondary end points included overall survival (OS), safety, and tolerability.

RESULTS

Between November 11, 2011, and August 6, 2013, 927 women were randomly assigned. There was no difference in PFS between treatment arms (hazard ratio, 0.99; 95% CI, 0.85 to 1.15; unstratified log-rank P = .90). Median PFS was 24.2 versus 26.0 months with standard versus extended duration of bevacizumab, respectively; restricted mean PFS was 39.5 versus 39.3 months, respectively. There was no OS difference between treatment arms (hazard ratio, 1.04; 95% CI, 0.87 to 1.23; P = .68). Serious/nonserious adverse events of special interest occurred in 29% versus 34% of patients in the standard versus experimental arms, respectively, and were consistent with the known safety profile of standard bevacizumab.

CONCLUSION

Longer treatment duration with bevacizumab for up to 30 months did not improve PFS or OS in patients with primary epithelial ovarian, fallopian tube, or peritoneal cancer. A bevacizumab treatment duration of 15 months remains the standard of care.
Achieving a Cure Without Total Mesorectal Excision in Rectal Adenocarcinoma
Authors: Hall William A. , Smith J. Joshua
Published: November 2022

The Oncology Grand Rounds series is designed to place original reports published in the Journal into clinical context. A case presentation is followed by a description of diagnostic and management challenges, a review of the relevant literature, and a summary of the authors’ suggested management approaches. The goal of this series is to help readers better understand how to apply the results of key studies, including those published in Journal of Clinical Oncology , to patients seen in their own clinical practice.

Rectal cancer is a curable disease, yet curing the disease can be associated with lifelong morbidity because of the nature of the curative-intent treatment strategies. A major focus of modern prospective trials has been to maintain current cure rates, while minimizing lifelong lifestyle alterations and maximizing quality of life. Navigating the complex landscape of therapeutic options for rectal adenocarcinoma with a focus to accomplish this quality-of-life improvement is a critical focus area for future clinical trials. Many challenges remain on the path to optimizing cure and minimizing morbidity, and include improving initial staging accuracy, more precise selection of neoadjuvant therapy used for each patient, choosing the optimal surgical management strategy, and ensuring modern radiation therapy approaches are being used. Finally, organ preservation strategies have moved to the forefront in the management of both early and locally advanced rectal cancers and hold the potential for significant changes to come for patients with rectal cancer. Herein, we highlight some of the challenges remaining in the field, progress made, and how the recent data from the Canadian Cancer Trials Group phase II trial can be put into context with the ACOSOG Z6041, CARTS, and GRECCAR2 trials.
Six Novel Variants in the MKRN3 Gene Causing Central Precocious Puberty
Authors: Gernay Caroline , Brachet Cécile , Boros Emese , Tenoutasse Sylvie , Libioulle Cécile , Heinrichs Claudine
Published: November 2022

Context

Idiopathic central precocious puberty (iCPP) is defined by the premature reactivation of the hypothalamic-pituitary-gonadal axis with normal magnetic resonance imaging scan of the central nervous system, causing the development of secondary sexual characteristics before age 8 years in girls and 9 years in boys. MKRN3 loss of function variants now represent the most common genetic cause of iCPP.

Objective

This work aims to document the clinical course of puberty in 8 families harboring pathogenic MKRN3 variants.

Methods

This is an observational case series study of patients with CPP due to MKRN3 variants followed in a single center.

Results

Genetic analysis of MKRN3 was carried out in 28 unrelated patients with iCPP and a family history of paternal inheritance or no/unavailable maternal inheritance, particularly in case of very early and rapidly evolving CPP. We identified 6 novel and 2 recently described variants in the MKRN3 gene in 9 girls, 1 boy, and their family members. These mutations were all predicted to be deleterious by in silico prediction programs

Conclusion

We have identified 6 novel MKRN3 mutations in children with CPP. An MKRN3 loss of function should be considered after careful history pinpointing paternally inherited CPP. A family segregation study allowed the detection of an MKRN3 variant in 2 young brothers still prepubertal, raising the question of screening and management of asymptomatic prepubertal family members.
What a (Young) Woman Wants: Concurrent Effects of Desire to Avoid Pregnancy and Desire for Sex on Sexual Intercourse and Contraceptive Use
Authors: Eilers Michelle A.
Published: November 2022

Of all pregnancies among young women in the United States, more than 60% are undesired, yet explanations for this phenomenon remain elusive. While research has investigated how pregnancy desires and intentions shape pregnancy-related behavior, only recently have scholars noted that desire for sex influences these same behaviors. Many young women simultaneously experience strong desires for sex alongside a strong desire to avoid pregnancy, but few studies have considered the extent to which young women adapt their reproductive behaviors in response to these potentially competing desires. Using novel weekly panel data, this analysis assesses how desires for sex may moderate the effect of the desire to avoid pregnancy on a young woman's sexual behavior and contraceptive use. Findings suggest that when a woman strongly wants to avoid pregnancy, she is less likely to have sex and more likely to use hormonal or coital contraceptives. As her desire for sex increases, however, she is instead more likely to have sex and use hormonal contraceptives. If she does not use hormonal methods, she is less likely to use coital contraceptives when she has intercourse. These findings highlight the importance of recognizing the desire for sex as a behavioral modifier for avoiding undesired pregnancy in the transition to adulthood.
Battle for Housing and Mutual Witnessing
Authors: Pierobon Camila
Published: November 2022

This article reflects on the dangers related to the circulation and displacement of the urban poor in Brazil, which intensified during the COVID-19 pandemic. The author describes a moment when Black women with small children asked for permission from the leadership of a local drug trafficking group to invade the empty rooms of the Nelson Mandela Occupation in downtown Rio de Janeiro, a common practice in the dispute for housing. However, suddenly there was a transformation in the logic of invasions. Rooms where single men lived became targets of dispute generating displacements between houses and cities. These practices are embedded in an intense and widespread network of mutual witness, placing questions of class, race, aging, and gender, as well as the power of criminal groups, in the same web of relationships. The author argues that local relations and mutual witnessing act in this continuum that is city-making in connection with uncertainty and opacity.
The Creative Politics of Legibility
Authors: Gurney Kim , Muyanga Neo , Pieterse Edgar
Published: November 2022

This conversation among a trio of interdisciplinary practitioners moves nimbly between a palace, a shed, and a kitchen—with a trickster spider as totem. Reflections on a new opera based in African folklore produced as a multimodal collaboration in Europe extends to the DIY-DIT principles of independent art spaces and the backyard appeal of a tiny space for big ideas, and concludes with a thought experiment for a new kind of urban incubator that might better attend to the stubbornly nested complexities of the city the contributors all call home: Cape Town, South Africa. The conceptual flies caught in their dialogic web include building new infrastructures to sustain polyvocal vocabularies, the necessary art of burning down and building up, opting for messy over linear time, and coming with your hands full to instantiate multimodal platforms of making.
small forces
Authors: Gupte Rupali , Shetty Prasad
Published: November 2022

This essay discusses cities as composites of small forces of energetic selves. Energetic self here is the dimension of the self that drives one to undertake activities connected to one's desires. These could include collecting strange objects, achieving mundane targets, opposing new ideas, behaving like a spy, counting every tree, tracking obscure data, occupying obscure spaces, and so on. Energetic selves also express themselves in everyday friendships and compassions. These practices go beyond the acts of routine and are considered unproductive in conceptualizing cities. They remain small and are often discarded as stray individual preoccupations, anecdotes, or subjective obsessions. While some of these are related to earnings and occupations, others are simply “useless.” However, everyone seems to have a trip that one lives with and for, and which provides individuals with their energies and cities with their oneiric spaces. Such energies, expressed in absurd quests, unusual obsessions, and bizarre interests cumulatively appear to be producing the city. In many ways the city seems to be a madhouse and madness seems to be running it. The city seems to acquire its generative energy from such small forces. Urban theory and pedagogy have however seldom engaged with an understanding of these small forces or extended it for speculative or projective purposes. Spatial professionals often take up the burden of acting like and being the modern state, which has to operate through modern imperatives of empiricism, technolegality, property regimes, boundaries, and so on. But while these imperatives are limited in understanding life, they are also not completely capable of handling the complexities of the urban. The paper further discusses a variety of ideas like settling; semi-fictional stories and montages; the blur; and transactional capacities to rethink the ways in which one could articulate newer ways to engage with the city.
ID1 and CEBPA coordinate epidermal progenitor cell differentiation
Authors: Kantzer Christina Geraldine , Yang Wei , Grommisch David , Patil Kim Vikhe , Mak Kylie Hin-Man , Shirokova Vera , Genander Maria
Published: November 2022

The regulatory circuits that coordinate epidermal differentiation during development are still not fully understood. Here, we report that the transcriptional regulator ID1 is enriched in mouse basal epidermal progenitor cells and find ID1 expression to be diminished upon differentiation. In utero silencing of Id1 impairs progenitor cell proliferation, leads to precocious delamination of targeted progenitor cells and enables differentiated keratinocytes to retain progenitor markers and characteristics. Transcriptional profiling suggests that ID1 acts by mediating adhesion to the basement membrane while inhibiting spinous layer differentiation. Co-immunoprecipitation reveals ID1 binding to transcriptional regulators of the class I bHLH family. We localize bHLH Tcf3, Tcf4 and Tcf12 to epidermal progenitor cells during epidermal stratification and establish TCF3 as a downstream effector of ID1-mediated epidermal proliferation. Finally, we identify crosstalk between CEBPA, a known mediator of epidermal differentiation, and Id1, and demonstrate that CEBPA antagonizes BMP-induced activation of Id1. Our work establishes ID1 as a key coordinator of epidermal development, acting to balance progenitor proliferation with differentiation and unveils how functional crosstalk between CEBPA and Id1 orchestrates epidermal lineage progression.
Towards an integrated automatic design process for robot swarms
Authors: Bozhinoski Darko , Birattari Mauro
Published: November 2022

Background:The specification of missions to be accomplished by a robot swarm has been rarely discussed in the literature: designers do not follow any standardized processes or use any tool to precisely define a mission that must be accomplished.

Methods:In this paper, we introduce a fully integrated design process that starts with the specification of a mission to be accomplished and terminates with the deployment of the robots in the target environment. We introduce Swarm Mission Language (SML), a textual language that allows swarm designers to specify missions. Using model-driven engineering techniques, we define a process that automatically transforms a mission specified in SML into a configuration setup for an optimization-based design method.  Upon completion, the output of the optimization-based design method is an instance of control software that is eventually deployed on real robots.

Results:We demonstrate the fully integrated process we propose on three different missions.

Conclusions:We aim to show that in order to create reliable, maintainable and verifiable robot swarms,  swarm designers may benefit from following standardised automatic design processes that will facilitate the design of control software in all stages of the development.
Intersubjectivity and mental health nurses as insider researchers
Authors: Archard Philip , Moore Isobel , Lewis Michael , O'Reilly Michelle
Published: November 2022

Ayres et al's (2021) reflective account published in this journal discusses Ayres' experience of undertaking a doctoral study concerned with how mental health nurses who had been assaulted by patients in secure settings make sense of this experience. This commentary recognises the importance of extending the dialogue initiated by Ayres' account, specifically regarding intersubjectivity in research relationships and research beneficence. An emphasis is placed on how practitioner participation in research interviews, whether as the interviewer or interviewee, can be a cathartic experience and foster practice reflection. However, engagement in more sensitive research may also present additional risk considerations for the insider researcher, such as emotional safety risks.
Complete abrogation of key osteoclast markers with a membrane-anchored tissue inhibitor of metalloproteinase
Authors: Zhang Yihe , Jiang Bingjie , Zhang Pengyuan , Chiu Sung K. , Lee Meng H.
Published: November 2022

Aims

Tissue inhibitors of metalloproteinases (TIMPs) are the endogenous inhibitors of the zinc-dependent matrix metalloproteinases (MMP) and A disintegrin and metalloproteinases (ADAM) involved in extracellular matrix modulation. The present study aims to develop the TIMPs as biologics for osteoclast-related disorders.

Methods

We examine the inhibitory effect of a high affinity, glycosyl-phosphatidylinositol-anchored TIMP variant named ‘T1PrαTACE’ on receptor activator of nuclear factor kappa-Β ligand (RANKL)-induced osteoclast differentiation.

Results

Osteoclast progenitor cells transduced with T1PrαTACEfailed to form tartrate-resistant acid phosphatase (TRAP)-positive osteoclasts or exhibit bone-resorbing activity following treatment with RANKL. At the messenger RNA level, T1PrαTACEstrongly attenuated expression of key osteoclast marker genes that included TRAP, cathepsin K, osteoclast stimulatory transmembrane protein ( OC-STAMP), dendritic cell-specific transmembrane protein ( DC-STAMP), osteoclast-associated receptor ( OSCAR) , and ATPase H+-transporting V0 subunit d2 ( ATP6V0D2) by blocking autoamplification of nuclear factor of activated T cells 1 (NFATc1), the osteoclastogenic transcription factor. T1PrαTACEselectively extended p44/42 mitogen-activated protein kinase activation, an action that may have interrupted terminal differentiation of osteoclasts. Inhibition studies with broad-spectrum hydroxamate inhibitors confirmed that the anti-resorptive activity of T1PrαTACEwas not reliant on its metalloproteinase-inhibitory activity.

Conclusion

T1PrαTACEdisrupts the RANKL-NFATc1 signalling pathway, which leads to osteoclast dysfunction. As a novel candidate in the prevention of osteoclastogenesis, the TIMP could potentially be developed for the treatment of osteoclast-related disorders such as osteoporosis. Cite this article: Bone Joint Res 2022;11(11):763–776.
Exceedance Probability Model for Predicting the Frequency of Frost-Free Days
Authors: Rudra Ramesh P. , Dickinson Trevor , Dhiman Jaskaran , Manzoor Shaukat , Goel Pradeep , Shukla Rituraj
Published: November 2022

Highlights

Number of frost-free days (FFD) increased exponentially with an increase in winter daily minimum temperatures.

Winter daily minimum temperatures increased at a rate of 2°C per 100 years for the investigated stations.

Stations situated in southern Canada are more susceptible to increase in winter FFD.

The developed simple model can be used to reliably forecast FFD and other temperature related variables.

Abstract. Data collected between 1940 and 2009 from 11 weather stations across central Canada were used to explore temporal changes in mean winter daily minimum temperatures (WDMT) and the number of frost-free days (FFD) per winter. The main objective of the study was to estimate and predict temporal trends in FFD per winter, as well as to investigate the relationship between FFD and mean (WDMT) across a wide range of latitudes in central Canada. An exceedance probability model was developed to predict FFD per winter based on the definition of FFD per winter as an exceedance variable, the normal distribution function as an approximation of the frequency distribution of WDMT, and a relationship between the standard deviations and means of WDMT. The analyses of the mean WDMT time series revealed an overall average temperature increase of about 2°C over 100 years for the investigated stations. Further, the stations in central Canada have experienced an increase in FFD, with an average increase of 12 days in 100 years. The rate of increase in FFD, however, varied considerably among the 11 stations, from approximately 0.6 to 36 days per 100 years. Stations situated at northern latitudes exhibited relatively small increases, or no increases in FFD per winter, as compared to stations situated in southern areas. The FFD per winter were found to increase exponentially with steady increases in the mean WDMT values, matching the results obtained by solution of the developed exceedance model. Therefore, the exceedance model was shown to be an excellent tool for predicting FFD per winter, at least for the stations located widely across central Canada. Keywords: Climate change, Exceedance probability model, Frost free days, Minimum daily temperature.
An Avulsion Fracture of the Lesser Trochanter of the Femur with Prodromal Symptoms in an adult: A Case Report and Review of Literature
Authors: Miyake Yoshiaki , Mitani Shigeru , Namba Yoshifumi , Kikuoka Ryosuke
Published: November 2022

Introduction: An avulsion fracture of the lesser trochanter of the femur in adults is rare and should be differentiated from neoplastic lesions. We present a rare case of avulsion fracture of the lesser trochanter of the femur with prodromal symptoms in an adult. Case Report: A right-handed 40-year-old man with gradual-onset left hip joint pain resulting from baseball pitching consulted a neighborhood doctor. X-ray images did not show any obvious anomalies; however, the pain persisted. Two months after the onset of pain, he stumbled when getting into a car, and the pain worsened. He was then brought into our hospital’s emergency unit, and an avulsion fracture of the lesser trochanter of the left femur was detected. Due to mild displacement (<20 mm) and no neoplastic lesions by gadolinium-enhanced magnetic resonance imaging and the technetium scintigraphy, he was managed conservatively. During the final follow-up, 1 year after the onset of symptoms, non-union of the lesser trochanteric fracture was noticed. However, there were no pain and no limited range of motion at the hip joint; therefore, he had no problems with daily activities and sports. Conclusion: The avulsion fracture of the lesser trochanter of the femur in our patient may have been caused by repeated flexion, adduction, and internal rotation of the hip joint during baseball pitching. Although bone union was not achieved, his condition was managed successfully using conservative treatment. Our experience offers a few key learning points to manage such rare fracture occurrences in adults and suggests that conservative treatment is often sufficient for mild displacement (<20 mm) of the fracture.
Extensive Synovial Chondromatosis of the Knee Managed by open radical synovectomy: A Case Report with review of literature
Authors: Rai Abhishek Kumar , Bansal Dixit , Bandebuche Ajinkya Ramesh , Rahman Syed Hifzur , Prabhu Rudra Mangesh , Hadole Bhushan Sunil
Published: November 2022

Introduction: Synovial chondromatosis of the knee is an unusual, rare, benign metaplastic neoplasm of the synovium, characterized by the formation of focal cartilaginous nodules in the synovium. It predominantly involves the anterior compartment of knee and extensive, disseminated involvement is rarely reported. Diagnosis is usually established with clinicoradiological imaging and confirmed by histology. The paucity of literature on the management of synovial chondromatosis puts an orthopedician in dilemma regarding the optimal surgical intervention. Case Report: We report a case of 50-year-old male who presented with severe pain and swelling in his left knee associated with functional incapacitation. Magnetic resonance imaging demonstrated diffuse proliferation of synovium with mild effusion displaying multiple, disseminated calcific nodules. We managed the case by open removal of loose bodies and radical synovectomy through combined anterior and posterior approach. At 4 years follow-up, there are no clinical or radiological signs of recurrence. Conclusion: Extensive involvement of the knee with calcific nodules is extremely rare. Treatment is controversial which usually includes removal of loose bodies combined with an open or arthroscopic synovectomy. Our case report recommends single stage, open retrieval of loose bodies combined with radical synovectomy to decrease the incidence of recurrence in extensive synovial chondromatosis. To the best of our knowledge, disseminated synovial chondromatosis of the knee, managed by open, combined approach, has been reported only once in the literature.
Human Rights Bulletin
Authors: Ruškus Jonas
Published: November 2022

In 2022 the UN CRPD Committee was informed about the disproportionate exposure of persons with disabilities to the risks engendered by military Russian aggression in Ukraine – risks such as poverty, violence, abandonment, injuries and death. This commentary provides an overview of the main issues identified.
Dual views of the generalized degree of purity
Authors: Bhattacharya Avik , Dey Subhadip , Frery Alejandro C. , Gil José J.
Published: November 2022

Several approaches and descriptors have been proposed to characterize the purity of coherency or density matrices describing physical states, including the polarimetric purity of 2D and 3D partially polarized waves. This work introduces two interpretations of the degree of purity: one derived from statistics and another from algebra. In the first one, the degree purity is expressed in terms of the mean and standard deviation of the eigenvalue spectrum of the density or coherency matrix of the corresponding state. The second one expresses the purity in terms of two specific measures obtained by decomposing the coherency matrix as a sum of traceless symmetric, antisymmetric, and scalar matrices. We believe these two approaches offer better insights into the purity measure. Furthermore, interesting relations with existing quantities in polarization optics also are described.