bluuebunny/crossref_metadata_2025 huggingface dataset:
A hybrid framework with large language models for rare disease phenotyping
Authors: Wu Jinge , Dong Hang , Li Zexi , Wang Haowei , Li Runci , Patra Arijit , Dai Chengliang , Ali Waqar , Scordis Phil , Wu Honghan
Published: October 2024

Purpose

Rare diseases pose significant challenges in diagnosis and treatment due to their low prevalence and heterogeneous clinical presentations. Unstructured clinical notes contain valuable information for identifying rare diseases, but manual curation is time-consuming and prone to subjectivity. This study aims to develop a hybrid approach combining dictionary-based natural language processing (NLP) tools with large language models (LLMs) to improve rare disease identification from unstructured clinical reports.

Methods

We propose a novel hybrid framework that integrates the Orphanet Rare Disease Ontology (ORDO) and the Unified Medical Language System (UMLS) to create a comprehensive rare disease vocabulary. SemEHR, a dictionary-based NLP tool, is employed to extract rare disease mentions from clinical notes. To refine the results and improve accuracy, we leverage various LLMs, including LLaMA3, Phi3-mini, and domain-specific models like OpenBioLLM and BioMistral. Different prompting strategies, such as zero-shot, few-shot, and knowledge-augmented generation, are explored to optimize the LLMs’ performance.

Results

The proposed hybrid approach demonstrates superior performance compared to traditional NLP systems and standalone LLMs. LLaMA3 and Phi3-mini achieve the highest F1 scores in rare disease identification. Few-shot prompting with 1-3 examples yields the best results, while knowledge-augmented generation shows limited improvement. Notably, the approach uncovers a significant number of potential rare disease cases not documented in structured diagnostic records, highlighting its ability to identify previously unrecognized patients.

Conclusion

The hybrid approach combining dictionary-based NLP tools with LLMs shows great promise for improving rare disease identification from unstructured clinical reports. By leveraging the strengths of both techniques, the method demonstrates superior performance and the potential to uncover hidden rare disease cases. Further research is needed to address limitations related to ontology mapping and overlapping case identification, and to integrate the approach into clinical practice for early diagnosis and improved patient outcomes.
Nurses’ perceptions regarding their own professionalism attributes to quality neonatal, infant and under-5 childcare
Authors: Lesao Dibolelo Adeline , Rabie Tinda , Lubbe Welma , Scholtz Suegnet
Published: October 2024

Background

Professional nurses are trained to provide quality care. Despite the professional nurses’ acquired skill and professionalism attributes, the neonate, infant, and under-5-child mortality rates are high in sub-Saharan Africa. This health care report indicates that sub-Saharan Africa countries face a challenge in reaching the Sustainable Development Goal number 3 by the year 2030 (that is, ensuring healthy lives and reducing the mortality rates of children under 5). It has been reported that professionalism in nursing can improve the quality of care and positively change the health outcomes.

Methods

This study employed a qualitative exploratory, descriptive design to explore and describe professional nurses’ own professionalism attributes to provide quality care to neonates, infants, and under-5 children in the North West province in South Africa. Eight naïve sketches of an all-inclusive sample of invited professional nurses (N = 25; n = 8) were received. The naïve sketch questions were based on the Registered Nurses’ Association of Ontario’s professionalism attributes. Tesch’s eight steps of data-analysis were used, with an independent coder’s assistance.

Results

The categories included (1) knowledge, (2) spirit of inquiry, (3) accountability, (4) autonomy, (5) advocacy, (6) collegiality and collaboration, (7) ethics and values, and (8) professional reputation, and each category generated sub-themes.

Conclusion

Professional nurses are aware of their own professionalism attributes in quality of care of neonates, infants and under-5 children; the ‘innovation and visionary’ attribute did not emerge, which should receive more attention to strengthen quality care. However, a new attribute, ‘professional reputation’, reflecting a South African culture-orientated attribute, emerged from the data collected.
Implementation of the four habits model in intermediate care services in Norway: a process evaluation
Authors: Kvæl Linda Aimée Hartford , Gulbrandsen Pål , Werner Anne , Bergland Astrid
Published: October 2024

Background

Intermediate care (IC) services bridge the transition for older patients from the hospital to the home. Despite the goal of involving individuals in their recovery process, these services often become standardised, leading to communication breakdowns. While evidence-based practices, such as the Four Habits Model (4HM), for effective communication are crucial for enhancing high-quality healthcare, research suggests their integration into routine practice remains limited. In this study, we aimed to investigate the implementation process of the 4HM through a two-day course that engaged healthcare professionals and managers in IC.

Methods

We conducted a process evaluation employing qualitative and quantitative methods: (i) individual interviews with three managers and two course participants pre-course, (ii) two focus group interviews with course participants (N = 11) and individual interviews with the same three managers post-course, and (iii) the NoMAD questionnaire (Normalisation MeAsure Development) administered four months later to assess the short- and long-term impact on course participants (N = 14). Reflexive thematic analyses were guided by Normalisation Process Theory (NPT), which offers insight into how new interventions become routine practices. The analysis of the NoMAD involved descriptive statistics.

Results

We identified four themes in the qualitative data: (i) Decoding Interactions: Making Sense of the 4HM in IC services, (ii) Fostering Change: Legitimising 4HM Through Staff Engagement, (iii) Harmonising Practice: Integrating 4HM into Complex Situations, and (iv) Embedding Value: Normalising the 4HM into Everyday Work. These themes illustrate the normalisation process of the 4HM course within IC, establishing standard practices. Healthcare professionals and managers highlighted the urgent need to integrate communication skills based on the 4HM into daily care. They noted positive changes in their communication habits following the course. The consistent findings from the NoMAD questionnaire underscore the sustainability of implementing the 4HM programme, as participants continue to utilise it in their clinical practice beyond the initial four-month period.

Conclusion

The 4HM course programme was deemed feasible for expansion within IC services. Both managers and staff found its focus on addressing communication breakdowns and readiness for change sensible. The study findings may benefit the stakeholders involved in IC service routines, potentially improving services for older patients and relatives.
A national evaluation of QbTest to support ADHD assessment: a real-world, mixed methods approach
Authors: Hall Sophie S. , McKenzie Caitlin , Thomson Louise , Ingall Benji-Rose , Groom Madeleine J. , McGlennon Nicole , Dines-Allen Mark , Hall Charlotte L.
Published: October 2024

Background

QbTest is a commercially available, computerised test of attention, impulsivity, and activity designed to assist with the diagnosis of attention deficit hyperactivity disorder (ADHD). Health Innovation East Midlands (formerly East Midlands AHSN), led the implementation of the QbTest on behalf of the 15 Health Innovation Networks across Child and Adolescent Mental Health services (CAMHS) and Paediatric sites in England between April 2020 and March 2023. We evaluate the impact of this programme on diagnostic assessment at participating sites.

Methods

A mixed-methods approach was used including: case-note data collected on 10–30 cases per site pre and post QbTest implementation; interviews with healthcare staff working with QbTest; and surveys to explore perspectives of healthcare staff and patients/carers. Case-note data was descriptively analysed to compare time to diagnosis (number of appointments and days) pre/post QbTest implementation. Survey data was analysed descriptively. Qualitative interview data was explored using thematic analysis.

Results

Case-note data was provided by 20 sites across England. Comparison of mean values pre- and post-QbTest implementation identified a decrease of 0.37 (11.5%) in number of appointments to reach a diagnostic decision, a 55-day (12.5%) increase in days from initial referral to diagnosis, and a 12-day (10.3%) increase in days to reach a diagnostic decision. Exploratory analyses indicated greater benefit for Paediatric services over CAMHS, in terms of a decrease in days from referral to diagnosis and number of appointments to diagnosis.

Interviews with healthcare staff (n=21) revealed that the QbTest was perceived to support a faster, more efficient diagnostic process. Survey data (n=65 healthcare staff, n=22 patients/carers) identified that the QbTest helped patients understand their symptoms and the diagnostic decision.  Although some logistical issues (e.g., room requirements) and patient issues (e.g., sensory sensitivity) were identified, healthcare staff considered that QbTest was easily incorporated into the ADHD assessment pathway.

Conclusion

The national implementation of QbTest in ADHD clinics resulted in a small reduction in the number of clinical appointments needed to reach a diagnostic decision, with greatest benefit demonstrated in Paediatric sites. Data were impacted by COVID-19 therefore, further evaluation is warranted.
Process evaluation of a breastfeeding support intervention to promote exclusive breastfeeding and reduce social inequity: a mixed-methods study in a cluster-randomised trial
Authors: Rossau Henriette Knold , Gadeberg Anne Kristine , Strandberg-Larsen Katrine , Nilsson Ingrid Maria Susanne , Villadsen Sarah Fredsted
Published: October 2024

Background

Breastfeeding is a powerful public health intervention that produces long-term health benefits. However, in high-income countries such as Denmark, breastfeeding rates are suboptimal and unequally distributed across socio-economic positions. The ‘Breastfeeding – a good start together’ intervention, to promote longer duration of exclusive breastfeeding and reduce social inequity, was implemented in a cluster-randomised trial during 2022–2023 across 21 municipalities in two Danish regions. A process evaluation was conducted to assess the implementation, mechanisms of impact, and possible contextual factors affecting the intervention.

Methods

The study was guided by the Medical Research Council’s guidance for conducting process evaluations and employed a mixed-methods approach in a convergence design. Quantitative data: contextual mapping survey (n = 20), health visitor survey (n = 284), health visitor records from 20 clusters and intervention website statistics. Qualitative data: dialogue meetings (n = 7), focus groups (n = 3) and interviews (n = 8).

Results

Overall, the intervention was delivered as planned to intended recipients, with few exceptions. Health visitors responded positively to the intervention, noting that it fitted well within their usual practice and enhanced families’ chances of breastfeeding. Mothers expressed having received the intervention with few exceptions, and reacted positively to the intervention. Although health visitors were concerned about the potential stigmatisation of mothers receiving the intensified intervention, none of the interviewed mothers felt stigmatised. Contextual factors impacting the intervention implementation and mechanisms included staff and management turnover, project infrastructure and mothers’ context, such as resources, social networks and previous experiences. The overall fidelity of the intervention delivery was high.

Conclusions

Health visitors and families responded well to the intervention. Interventions aimed at enabling health care providers to deliver simplified and structured breastfeeding support, in alignment with support provided in other sectors of the health care system, may increase breastfeeding rates and reduce social inequity in breastfeeding, even in international contexts.

Trial registration

Clinical Trials: NCT05311631. First posted April 5, 2022.
Unveiling the uncommon: diagnostic journey of camurati-engelmann disease in a pediatric patient
Authors: Alkaya Ayşenur , Yıldız Adalet Elçin , Bağlan Esra , Özdel Semanur
Published: October 2024

Background

Camurati-Engelmann disease (CED), also known as progressive diaphyseal dysplasia, is a rare genetic disorder characterized by abnormal thickening of the long bones’ diaphysis. This condition is caused by mutations in the transforming growth factor beta-1 (TGFB-1) gene and is typically inherited in an autosomal dominant pattern. Patients with CED often present with symptoms such as chronic bone pain, muscle weakness, fatigue, and difficulty walking.

Case presentation

We report a 30-month-old boy who presented with gait abnormality. Initially, toxic synovitis was considered, and non-steroidal anti-inflammatory (NSAİ) treatment was administered. The patient did not respond to NSAİ treatment. Direct radiographs showed diaphyseal thickening, especially in the long bones. Radiologically, CED was suspected, and clinical exome sequencing identified a TGFB-1: c1121C > G (Pro374Arg) heterozygous mutation, which was interpreted as a possible pathogenic variant for CED. A clinical, radiologic, and genetic diagnosis of CED was made.

Conclusion

Due to its rarity and variable clinical presentation, the diagnosis of CED can be challenging and often requires a high index of suspicion. Early and accurate diagnosis is crucial for managing symptoms and improving patients’ quality of life.
Contribution of inflammation markers and quantitative sensory testing (QST) indices of central sensitisation to rheumatoid arthritis pain
Authors: Georgopoulos Vasileios , Smith Stephanie , McWilliams Daniel F. , Ferguson Eamonn , Wakefield Richard , Platts Dorothy , Ledbury Susanne , Wilson Deborah , Walsh David A.
Published: October 2024

Background

Pain, the primary complaint in rheumatoid arthritis (RA), is multifaceted, and may be driven by inflammatory disease activity and central sensitisation. We aimed to ascertain what proportion of RA pain severity is explained by markers of inflammation and quantitative sensory testing (QST) indices of central sensitisation.

Methods

This was a cross-sectional analysis of data from individuals with clinically active RA. Pain severity was assessed using numerical rating scales and inflammation via 28-joint Disease Activity Score (DAS28) and Ultrasound (Greyscale, Power Doppler). Pain sensitivity was assessed by ‘static’ (tibialis anterior or brachioradialis pressure pain detection threshold-PPT-TA/PPT-BR) and ‘dynamic’ (temporal summation-TS, conditioned pain modulation-CPM) QST. Bivariate associations used Spearman’s correlation coefficients, and multivariable linear regression models determined relative contributions to pain severity.

Results

In bivariate analyses of N = 96 (age 65 ± 10y, 77% females) people with RA, pain severity was significantly associated with inflammation indices (r = 0.20 to 0.55), and CPM (r=-0.26). In multivariable models that included TS, CPM, age, sex, and body mass index, inflammation indices remained significantly associated with pain severity. Multivariable models explained 22 to 27% of pain variance. Heterogeneity was apparent for associations with pain between subscores for pain now, strongest or average over the past 4-weeks.

Conclusions

In individuals with clinically active RA, markers of inflammatory disease activity best explain RA pain with only marginal contributions from QST indices of central sensitisation. Although inflammation plays a key role in the experience of RA pain, the greater proportion of pain severity remains unexplained by DAS28 and ultrasound indices of inflammation.
Effect of pure (ligand-free) nanoparticles of magnetite in sodium chloride matrix on hematological indicators, blood gases, electrolytes and serum iron
Authors: Lytvyn Stanislav Ye. , Vazhnichaya Elena M. , Manno Daniela E. , Kurapov Yurii A. , Calcagnile Lucio , Rinaldi Rosaria , Carbone Giorgio Giuseppe , Semaka Oleksandr V. , Nedostup Yana V.
Published: October 2024

One of the physical methods for obtaining magnetite nanoparticles (NPs) is electron beam physical vapor deposition (EB PVD), which requires complex equipment, but allows obtaining a significant amount of pure (ligand-free) NPs. The biomedical application of such NPs is less studied than materials from other synthesis methods. The objective is to study the effect of pure magnetite NPs in the NaCl matrix obtained by EB PVD on hematological indicators, gases, electrolytes and parameters of iron metabolism in the blood of intact animals. The physical characteristics of NPs were studied using high-resolution transmission electron microscopy, scanning transmission electron microscopy, energy-dispersive X-ray spectroscopy mapping, electron energy-loss spectroscopy, selected area electron diffraction and fast Fourier transform. In vivo experiments were conducted on albino male rats, which were injected with solution of magnetite-sodium chloride NPs (1.35 mg Fe/kg). After 3 and 72 h, hematological parameters, blood gases, electrolytes, and serum iron were determined. The synthesized NPs had an average size of 11 nm. They were identified as magnetite, where polycrystals and single crystals were present. The absence of contamination in crystal boundaries, clear orientation and orderliness of atoms in crystals were established. The administration of NPs in the sodium chloride matrix to animals was characterized by a transient increase in the main indicators of red blood accompanied by an increase in the saturation of erythrocytes with hemoglobin and their mean volume after 3 h. It did not worsen blood gases and pH, but decreased blood Na+ content after 72 h. The investigated NPs caused changes in the parameters of serum iron characteristic to iron preparations, which after 3 h were smaller compared to the reference iron drug, and after 72 h—similar to it. More intense rapid effects on hematological parameters at lower serum iron indicate greater activity of the studied pure magnetite NPs obtained by EB PVD syntesis compared to the reference iron preparation.
Laparoscopic abdominoperineal resection and myocutaneous flap reconstruction for anal fistula cancer arising from complicated anal fistula: two case reports
Authors: Kuroiwa Hidemichi , Nakamura Yuki , Matsuda Kenji , Iwamoto Hiromitsu , Mitani Yasuyuki , Shimomura Kazuki , Takemoto Norio , Sakanaka Toshihiro , Tamiya Masato , Hyo Takahiko , Kawai Manabu
Published: October 2024

Background

Anal fistula cancer is rare and definitive treatment has not yet been established. Laparoscopic abdominoperineal resection is generally the first choice of treatment if the cancer is determined to be resectable. However, complicated anal fistula cancer often requires extensive resection. Using a myocutaneous flap for reconstruction after resection in such cases, radical resection can be performed regardless of the size of the anal fistula cancer.

Case presentation

We report two cases in which we performed laparoscopic abdominoperineal resection with extensive buttock resection and myocutaneous flap reconstruction for widespread anal fistula cancer. One of the cases was reconstruction with a posterior thigh flap, the other was with a bilateral expanded gluteus maximus flap. Both cases were anal fistula cancers that developed from complicated anal fistulas.

Conclusions

If the size of anal fistula cancer is large and extended buttock resection is necessary, radical resection of anal fistula cancer is possible using myocutaneous flap for reconstruction after extended abdominoperineal resection.
Anti-diabetic potential of Rubus species: linking conventional knowledge with scientific developments: a review
Authors: Joshi Aroma , Kumar Vijay , Naik Bindu , Shikha Deep , Rustagi Sarvesh , Gupta Arun Kumar
Published: October 2024

The incidence of diabetes mellitus, a pressing global health concern that is rapidly increasing, has prompted the exploration of medicinal plants for potential remedies, particularly those within the Rubus genus. This comprehensive review aims to connect traditional knowledge with scientific insights, shedding light on the antidiabetic properties of various Rubus species. An exhaustive exploration of the literature revealed that Rubus chingii Hu, Rubus idaeus, Rubus ulmifolius, Rubus fruticosus, Rubus amabilis, and some other Rubus species exhibited noteworthy antidiabetic effects, each operating via distinct mechanisms. Furthermore, Rubus species serve as abundant reservoirs of bioactive compounds, including flavonoids, phenolic acids, tannins, alkaloids, glycosides, antioxidants, triterpenoids, and sterols. As indicated by various in vivo and in vitro studies, these compounds notably improve insulin secretion, increase hepatic glycogen synthesis, inhibit key digestive enzymes, enhance the functions of β-cells in the pancreas, and effectively reduce blood glucose levels. This review, which describes the antidiabetic potential of Rubus species in terms of both pharmacological effects and traditional uses, offers valuable insights for future scientific initiatives in the development of innovative antidiabetic therapies.

Graphical Abstract
Medial soft tissue release is also related to the anterior stability of cruciate-retaining total knee arthroplasty: a cadaveric study
Authors: Sakai Sayako , Nakamura Shinichiro , Maeda Takahiro , Kuriyama Shinichi , Nishitani Kohei , Morita Yugo , Morita Yugo , Yamawaki Yusuke , Shinya Yuki , Matsuda Shuichi
Published: October 2024

Background

Medial soft tissue release is occasionally performed to achieve mediolateral ligament balance in total knee arthroplasty (TKA), whose sequential effect on mediolateral and anteroposterior stability remains unclear. This study aimed to quantitatively evaluate the difference in mediolateral and anteroposterior stability according to a sequential medial soft tissue release in TKA.

Methods

Cruciate-retaining TKA was performed in six cadaveric knees. Medial and lateral joint gaps, varus-valgus angle, and tibial anterior and posterior translations relative to the femur with pulling and pushing forces, respectively, were measured. All measurements were performed at full extension and 45° and 90° flexion after release of the deep medial collateral ligament (MCL) (stage 1), the posteromedial capsule (stage 2), and the superficial MCL (stage 3). Mediolateral and anteroposterior stability were compared between stages, and correlations between mediolateral and anteroposterior stability were analyzed.

Results

Medial joint gap significantly increased from stages 1 to 3 by 3.2 mm, 6.8 mm, and 7.2 mm at extension, 45° flexion, and 90° flexion, respectively, and from stages 2 to 3 by 3.5 mm at extension. Varus-valgus angle was varus at stage 2, which turned to valgus at stage 3 (−2.7° to 0.8°, −2.2° to 4.3°, and −5.5° to 2.5° at extension, 45° flexion, and 90° flexion, respectively). Anterior translation at 90° flexion significantly increased from stages 1 and 2 to stage 3 by 11.5 mm and 8.2 mm, respectively, which was significantly correlated with medial gap (r = 0.681) and varus-valgus angle (r = 0.495).

Conclusions

Medial soft tissue release also increased tibial anterior translation as well as medial joint gap, and medial joint gap and tibial anterior translation were significantly correlated. Surgeons should be careful not to create too large medial joint gap and tibial anterior translation in flexion by excessive medial release up to the superficial MCL for achieving an equal mediolateral joint gap in extension.
Museographic narrating of dissonant heritage in Tianjin’s former international concessions
Authors: Gravari-Barbas Maria , Guinand Sandra , Lu Yue , Shen Chensi
Published: October 2024

Concessions—defined as the urban elements built by Western powers while ‘occupying’ various parts of the Chinese territory—have recently been granted heritage status by the Chinese national and local authorities. However, in many respects, they are ‘dissonant’ heritage sites since they are the result of the several-decade-long ‘colonial’ presence in Tianjin of nine foreign powers. The aim of this study is to understand how former international concessions are featured in museums and interpretation centres in present-day Tianjin. Using an approach that draws on dissonant heritage; literature on postcolonial museums, nostalgia and forgetting mechanisms; and the relationship between museographic narratives and patriotism, this article analyses a corpus of eight museums located in three former international concessions (Marshal Zhang’s Mansion, the Former Residence of Ma Zhanshan, the Museum of Modern History of Tianjin, the Five Avenues History Museum, the Museum of the Department Store Quan Ye Chang, Zhang House, the Astor Hotel Museum, the Tianjin Planning Exhibition Hall and the Tianjin Museum). The analysis is based on a common observation grid and semidirect interviews conducted with museum staff. The article captures and examines the main narratives from three perspectives: 1) revisiting the concession period as evidence of the beginning of modernity in China, which was a time in which celebrity life stories and the emergence of modern urban elements were praised; 2) considering the concessions as a dreamlike past of ‘others’ and ‘elsewheres’ belonging to a ‘foreign land’ and a context far removed from contemporary life in China, which favours the thematisation and leisure of Western architecture; and 3) selecting and targeting narratives focused on the heroes of the Republic of China (1912–1949) and the People’s Republic of China. This paper highlights and further develops how former Western concessions are imbued with a sense of both nostalgia and patriotism and sets out to gain a deeper understanding of the tension between these two attitudes.
Estimating Long-Term Survivorship Rates Among Patients With Resected Stage III/IV Melanoma: Analyses From CheckMate 238 and European Organization for Research and Treatment of Cancer 18071 Trials
Authors: Weber Jeffrey S. , Middleton Mark R. , Yates Georgia , Sharpe Daniel J. , Kurt Murat , Lobo Maurice , Moshyk Andriy , Vanderpuye-Orgle Jacqueline , Mohr Peter
Published: October 2024

PURPOSE

Standard-of-care treatments for patients with resected stage III/IV melanoma include the immuno-oncology (IO) agents nivolumab (NIVO) and ipilimumab (IPI). This study used mixture cure models (MCMs) to estimate cure rates among patients treated with NIVO or IPI in the phase III CheckMate 238 (ClinicalTrials.gov identifier:
NCT02388906
) and European Organization for Research and Treatment of Cancer (EORTC) 18071 (ClinicalTrials.gov identifier:
NCT00636168
) trials, and to assess the impact of use of adjuvant immunotherapy on cure rates versus watchful waiting.

METHODS

MCMs were applied to patient-level recurrence-free survival data from CheckMate 238 and EORTC 18071. Cured patients were assumed to experience no disease recurrence and mortality risks similar to the general population. Uncured patients were at risk of disease recurrence and all-cause death. The survival trend of the cured patients was estimated using life expectancy data for a general population with the same baseline demographic characteristics. A regression model assessed the odds ratios (ORs) of cure across key subgroups on the basis of baseline characteristics of the study populations.

RESULTS

In CheckMate 238, estimated cure rates were 48.3% (95% CI, 41.8 to 54.9) with NIVO and 38.2% (95% CI, 32.7 to 44.1) with IPI. In EORTC 18071, estimated cure rates were 38.0% (95% CI, 32.1 to 44.2) with IPI and 29.2% (95% CI, 24.4 to 34.6) with placebo. In the indirect comparison of the two trials, the odds of cure were significantly higher with NIVO than with placebo (OR, 2.33 [95% CI, 1.49 to 3.65]).

CONCLUSION

Analyses involving two large phase III trials investigating adjuvant IO treatment for resected melanoma demonstrate higher cure rates for both NIVO and IPI than placebo, with NIVO providing the highest cure rate. Similar cure rates were estimated for patients treated with IPI in both trials, despite staging and dosing differences.
Frequent Use of Premenopausal Progestin in Women With Prior Preeclampsia
Authors: Joensuu Johanna M , Ylikorkala Olavi , Venetkoski Minttu , Gissler Mika , Savolainen-Peltonen Hanna , Mikkola Tomi S
Published: October 2024

Context

Women with a history of preeclamptic pregnancy are predisposed to later occlusive vascular diseases.

Objective

We compared the use of cyclic progestins or levonorgestrel-releasing intrauterine device (LNG-IUD) for treatment of menstrual cycle abnormalities between premenopausal women with and without a prior preeclamptic pregnancy.

Methods

Register-based cohort study during 1994 to 2019 of oral progestin or LNG-IUD in Finnish women with (n = 31 688) and without (n = 91 726) prior preeclampsia in 1969 to 1993. Cyclic progestin or LNG-IUD use and its association with future use of menopausal hormone therapy (MHT).

Results

Women with prior preeclampsia had used cyclic progestins more often (23.5% vs 9.1%; P < .001) and initiated the use at younger ages (41.8 years, SD 6.3 vs 45.9 years, 3.1; P < .001) than control women. Also, LNG-IUD was inserted more frequently (P < .001) in women with prior preeclampsia (9.3%) than in controls (4.7%). Cyclic progestin or LNG-IUD use was accompanied by significant 37% to 90% elevations in future MHT use.

Conclusion

Increased use of cyclic progestins and LNG-IUD in premenopausal women with a history of preeclamptic pregnancy can be seen as indirect evidence of earlier onset of ovulatory dysfunction. This may contribute to the elevated risk of endometrial cancer in these women. Our findings may indicate an additional late sequela of preeclamptic pregnancy.
Efficacy and Safety of TransCon PTH in Adults With Hypoparathyroidism: 52-Week Results From the Phase 3 PaTHway Trial
Authors: Clarke Bart L , Khan Aliya A , Rubin Mishaela R , Schwarz Peter , Vokes Tamara , Shoback Dolores M , Gagnon Claudia , Palermo Andrea , Abbott Lisa G , Hofbauer Lorenz C , Kohlmeier Lynn , Cetani Filomena , Pihl Susanne , An Xuebei , Smith Alden R , Lai Bryant , Ukena Jenny , Sibley Christopher T , Shu Aimee D , Rejnmark Lars
Published: October 2024

Context

Conventional therapy for hypoparathyroidism aims to alleviate symptoms of hypocalcemia but does not address insufficient parathyroid hormone (PTH) levels.

Objective

Assess the long-term efficacy and safety of TransCon PTH (palopegteriparatide) for hypoparathyroidism.

Design

Phase 3 trial with a 26-week, double-blind, placebo-controlled period followed by a 156-week, open-label extension (OLE).

Setting

Twenty-one sites across North America and Europe.

Participants

A total of 82 adults with hypoparathyroidism were randomized and received study drug and 78 completed week 52.

Intervention(s)

All OLE participants received TransCon PTH administered once daily.

Main Outcome Measure(s)

Multicomponent efficacy endpoint: proportion of participants at week 52 who achieved normal serum calcium (8.3-10.6 mg/dL) and independence from conventional therapy (≤600 mg/day of elemental calcium and no active vitamin D). Other efficacy endpoints included patient-reported outcomes and bone mineral density. Safety was assessed by 24-hour urine calcium and treatment-emergent adverse events.

Results

At week 52, 81% (63/78) met the multicomponent efficacy endpoint, 95% (74/78) achieved independence from conventional therapy, and none required active vitamin D. Patient-reported outcomes showed sustained improvements in quality of life, physical functioning, and well-being. Mean bone mineral density Z-scores decreased toward age- and sex-matched norms from baseline to week 52. Mean (SD) 24-hour urine calcium excretion decreased from 376 (168) mg/day at baseline to 195 (114) mg/day at week 52. Most treatment-emergent adverse events were mild or moderate and none led to trial discontinuation during the OLE.

Conclusion

At week 52 of the PaTHway trial, TransCon PTH showed sustained efficacy, safety, and tolerability in adults with hypoparathyroidism.
Lower-Ischemic-Risk Profile of Coated Flow Redirection Endoluminal Device X Compared With Uncoated Flow Redirection Endoluminal Device Flow Diverter in the Treatment of Unruptured Intracranial Aneurysms
Authors: Goertz Lukas , Hohenstatt Sophia , Vollherbst Dominik F. , Styczen Hanna , Siebert Eberhard , Bohner Georg , Deuschl Cornelius , Möhlenbruch Markus A. , Kabbasch Christoph
Published: October 2024

BACKGROUND AND OBJECTIVES:

Flow Redirection Endoluminal Device (FRED) X is a new generation flow diverter with an antithrombotic surface coating. This study compares the procedural safety and short-term efficacy of FRED X with its uncoated predecessor, the FRED.

METHODS:

Patients treated with FRED and FRED X devices for unruptured aneurysms between 2013 and 2023 at 3 neurovascular centers were retrospectively reviewed. The procedural ischemic event rate was the safety end point, and the complete aneurysm occlusion rate at 1 year was the efficacy end point. Multivariable regression adjustment and 1:1 propensity score matching were performed to control for potential confounding.

RESULTS:

The FRED X group (137 patients) had a higher prevalence of recurrent and bifurcation aneurysms and fewer aneurysms with branch involvement than the FRED X group (156 patients). The ischemic event rate was lower in FRED X (1/156 [0.6%]) than in FRED (7/137 [5.1%]), which was significant after multivariable adjustment (odds ratio: 8.8, 95% CI: 1.1-72.7,P= .04), and tended to be significant in the propensity score analysis (P= .07). Morbidity was comparable between FRED (2.2%) and FRED X (0%,P= .10). The complete occlusion rates of FRED vs FRED X were 73/117 (62.4%) vs 39/54 (72.2%) aneurysms at 6 months (P= .21) and 52/74 (70.3%) vs 27/37 (73.0%) at 12 months (P= .77). Hemorrhagic complications, in-stent stenosis, and clinical events during follow-up and retreatments were not significantly different between groups.

CONCLUSION:

This study indicates an improved ischemic risk profile of FRED X while maintaining a favorable efficacy profile, warranting further study and translation into clinical use.
A role for BYN-1/bystin in cellular uptake and clearance of residual bodies in the Caenorhabditis elegans germline
Authors: Min Hyemin , Spaulding Emily L. , Sharp Catherine S. , Garg Pankaj , Jeon Esther , Miranda Portillo Lyn S. , Lind Noah A. , Updike Dustin L.
Published: October 2024

GLH/Vasa/DDX4 helicases are core germ-granule proteins that promote germline development and fertility. A yeast-two-hybrid screen using Caenorhabditis elegans GLH-1 as bait identified BYN-1, the homolog of human bystin/BYSL. In humans, bystin promotes cell adhesion and invasion in gliomas, and, with its binding partner trophinin, triggers embryonic implantation into the uterine wall. C. elegans embryos do not implant and lack a homolog of trophinin, but both trophinin and GLH-1 contain unique decapeptide phenylalanine-glycine (FG)-repeat domains. In germ cells, we find endogenous BYN-1 in the nucleolus, partitioned away from cytoplasmic germ granules. However, BYN-1 enters the cytoplasm during spermatogenesis to colocalize with GLH-1. Both proteins become deposited in residual bodies (RBs), which are then engulfed and cleared by the somatic gonad. We show that BYN-1 acts upstream of CED-1 to drive RB engulfment, and that removal of the FG-repeat domains from GLH-1 and GLH-2 can partially phenocopy byn-1 defects in RB clearance. These results point to an evolutionarily conserved pathway whereby cellular uptake is triggered by the cytoplasmic mobilization of bystin/BYN-1 to interact with proteins harboring FG-repeats.
Program Reach and Motivational Correlates of Exercise Behavior among Program Participants with Visual Impairment
Authors: Wilson Kathryn E. , Shapiro Deborah R.
Published: October 2024

Introduction

Adults with visual impairments (VI) experience unique barriers to exercise. Targeted exercise programming can eliminate barriers, but little is known about who engages in such programs. This cross-sectional study a) describes program reach and motivational correlates of exercise behavior among members of specialized exercise programs offered to adults with VI; b) examines demographic, psychological, and behavioral differences according to VI severity; and c) assesses the interrelationships between motivational characteristics and exercise behavior.

Methods

Data for program participants were provided to researchers by the partnered organization with participant consent. A total of 118 participants also completed a post-program survey on motivational characteristics and exercise behavior. Reach was assessed with descriptive statistics. T-tests and chi-squared tests were used to analyze respondent representativeness compared to the population of program participants (demographically) and normative values (motivationally). Analysis of variance examined differences according to VI severity. Pearson’s correlations and multiple regression assessed strength and independence of relationships between motivational variables and exercise.

Results

Programs attracted mostly equivalent groups of individuals across gender and varying severity of VI. Survey respondents were representative of program participants but were significantly more approach motivated and less avoidance motivated than published norms, and mostly exhibited autonomous forms of motivational regulation for exercise. Differences according to VI severity were not significant. Relationships between approach motivation and exercise were no longer significant when modeled with motivational regulation for exercise. Identified regulation was the lone significant predictor of exercise in the multivariate model.

Conclusion

This study presents a novel understanding of the demographic and motivational reach of specialized programming for adults with VI, as well as the motivational correlates of exercise behavior among existing program participants. Motivational characteristics were related to exercise behavior in a way that was consistent with theory, such that contextualized motivational regulation demonstrated stronger associations with exercise behavior than motivational dispositions.
Features of the socio-pedagogical profile of women of the first period of adulthood engaged in health fitness
Authors: Grygus Igor , Rebrov Volodymyr , Orel Iryna
Published: October 2024

Relevance. The modern reformation of society requires the correction of many aspects of a person's life: increasing the level of health and motor activity, mobilizing of their psyche, increasing the level of physical fitness, which ensure their adaptation to new conditions and phenomena of life. Studying the socio-pedagogical profile of women in the first period of adulthood is an important research step.
Research tasks. To determine the education, marital status, social status, history of physical activity, having of children, goals of classes, forms of classes, health status, smoking habits and regularity of morning gymnastics of women aged 23-27 years who are engaged in health fitness.
Research results. Health fitness classes in the first period of adulthood allow not only improve or maintain the functional capabilities of women at a high level for a long time, but also create reliable conditions for the formation of stable motives and needs for motor activity in the following years of life. It was found that the majority of women (59.46%) have higher education, what indicates their high academic level and probably greater awareness of healthy lifestyles. More than half of the participants (51.35%) are married women, a significant proportion are also divorced (40.54%), what emphasizes their life experience in family relationships. The social status of the participants varies between working women (62.16%) and housewives (37.84%), what indicates the different level of involvement in the labor market and the impact on their lifestyle.
Conclusions. There were some differences in educational level and marital status between women aged 23-25 and 26-27. Differences in physical activity goals, health assessment, and smoking habits were also found. In other aspects, such as social status, physical activity, having the children, form of classes and morning gymnastics, the differences between age groups were insignificant, according to which women of the first period of adulthood have similar socio-pedagogical influences.
Effect of septoplasty on physical performance
Authors: Śliwiak Patryk , Kondratowicz Aneta , Miłkowski Paweł , Głąbień Marta , Aleksandrowicz Daria , Kuśnierz Anna , Jakubczak Zofia , Kusiak Karolina , Wieczorek Olga , Zimniak Maria Weronika
Published: October 2024

The nasal septum is a key component of the nasal structure, affecting proper airflow and providing support for the nasal structures. A deviated septum (DSN) can lead to breathing disorders, impaired nasal patency, recurrent nosebleeds, olfactory disorders and frequent upper respiratory tract infections. In competitive sports, where ventilation performance is critical, septal deviation can adversely affect athletic performance. The purpose of this study is to evaluate the effect of septoplasty on patients' physical performance.
Methodes
This article is based on the available literature found in the Google Scholar, PubMed database with the use of key words such as ,,septoplasty'', ,,nasal septal deviation'', ,,septoplasty quality of life'', ,,nasal septal deviation athletes'', ,,septoplasty sport'', ,,nasal obstruction sport''.
Results
Conducted studies show that surgical correction of a deviated nasal septum improves physical performance as well as respiratory and cardiovascular functions. Restoring proper airflow through the nose after surgery leads to a noticeable improvement in physical performance, highlighting the significance of septoplasty in enhancing patient comfort and improving athletic outcomes.
Zawadka: Zarys dziejów wsi, szkoły i sportu
Authors: Nowakowski Andrzej
Published: October 2024

Zawadka is a small village located in the Beskid Small region south of Wadowice. The village belongs to the administrative community of Wadowice in Wadowice county, in the voivodeship of Lesser Poland. It has about 800 inhabitants and the main occupation of the population is farming. The first unofficial record of the village dates back to 1419, and the next fully official one dates back to 1552. Until 1564 the village belonged to the duchy of Auschwitz and Zator, then called Silesian county. In the years 1772‑1918 the village was part of the Austrian Empire. During the period of reborn Poland (1918‑1939) tourism developed in Zawadka. The peak above the village called Bald Mountain has become a particularly popular place for excursions. Young Charles Wojtyła, later Pope John Paul II, visited this place many times together with his father and friends from Wadowice gymnasium. Both the First and the Second Wars painfully affected the inhabitants of the village. In the post‑war period, many residents of Zawadka found employment in the nearby industry and even in mining. Currently, many small businesses are developing in the village. The primary school in Zawadka was established around 1910. After the Second World War the school was moved to a new building in the centre of the village, which is currently being modernized (a sports hall is being built). This is primary school with 8 classes. In 2006 was named after general Walerian Czuma, who was associated with nearby Wadowice, and who was one of the main defenders of Warsaw in September 1939. In 1963 an archery sports club was founded at the local school and, except for a few short breaks, has been in existence to this day. Pupils and graduates of the school – young archers – achieve significant successes in regional and national competitions.
EXPLORING LEARNING OPPORTUNITIES FOR PRIMARY TEACHERS: THE CASE OF KNOWLEDGE FOR TEACHING EARLY ALGEBRA
Authors:   Universidade Federal do ABC, Santo André, Ribeiro Alessandro Jacques , Aguiar Marcia ,   Universidade Federal do ABC, Santo André, Trevisan André Luis ,   Universidade Tecnológica Federal do Paraná, Elias Henrique Rizek ,   Universidade Tecnológica Federal do Paraná
Published: October 2024

Understanding how to constitute and develop opportunities for primary teachers teach early algebra to younger children is still an important research gap. In this paper, we bring results of a research program developed in Brazil over the past five years. We aim to discuss how professional learning opportunities emerged when teachers collectively planned, discussed, and analyzed lessons involving different meanings of the equality symbol and the development of functional thinking. Developed from the perspective of a qualitative-interpretative research, data analyzed consists of curriculum documents, protocols for the resolution of formative tasks, audios and videos collected during teacher education processes for in-service teachers. The results highlight that professional learning tasks, combined with the actions of teacher educators during collective discussions, favored in-service teachers to differentiate and understand the students’ reasoning. Some implications for teacher education as well as the professional development of primary teachers are discussed, especially regarding early algebra thinking, because teachers do not normally have the opportunity to study these contents on their own experiences in school.
ENSEÑANZA DEL CÁLCULO DIFERENCIAL E INTEGRAL ASISTIDO POR EL SOFTWARE GEOGEBRA
Authors:   Universidad Nacional San Cristóbal de Huamanga, Laderas Huillcahuari Edison , Acori Flores Vladimir ,   Universidad Nacional San Cristóbal de Huamanga, Villa Pérez Luis ,   Universidad Nacional San Cristóbal de Huamanga
Published: October 2024

El estudio abordó el impacto del uso del software GeoGebra en la enseñanza-aprendizaje de la cálculo diferencial e integral en educación superior universitaria. Se analizaron dimensiones como autorregulación, metacognición, significatividad, percepción del entorno, lenguaje simbólico, modelación de procesos, comunicación efectiva y razonamiento. La metodología utilizada en el estudio incluyó un enfoque cuantitativo y un diseño cuasi experimental con dos grupos independientes, compuesto por un total de 60 estudiantes. Los datos se recopilaron mediante cuestionarios, escalas de valoración (Escala de Likert) y técnicas de estadística no paramétrica. Los resultados revelaron una diferencia significativa en los resultados obtenidos por los grupos de muestra después de la implementación del software GeoGebra. Los resultados de las dimensiones metacognición, lenguaje simbólico, significatividad y percepción mejoraron habilidades de pensamiento matemático y espacial en 90.615 %. El estadístico D=1 de Kolmogorov-Smirnov evidenció desviación alta entre las curvas de estudiantes aprendiendo con y sin GeoGebra. En conclusión, este estudio subraya el potencial uso del software GeoGebra para transformar la educación y mejorar el proceso de aprendizaje, y a su vez resalta que es una herramienta innovadora para mejorar la enseñanza de las matemáticas.