bluuebunny/crossref_metadata_2025_split huggingface dataset:
Autosomal recessive polycystic kidney disease: late-onset renal enlargement and proteinuria with rare PKHD1 mutation—a case report
Authors: Zeraati Tina , Abbaszadegan Mohammad Reza , Azarfar Anoush , Ghayoor Karimiani Ehsan , Lotfi Malihe , Zeraati Abbas Ali 
Published: November 2024

Abstract
Background
Autosomal recessive polycystic kidney disease (ARPKD) is a genetically inherited pediatric disorder. It is caused by a mutation in the PKHD1 gene located on chromosome 6. The predominant phenotype is characterized by early-onset bilateral enlarged kidneys, as well as fibrocystic changes in the kidney and liver. Fetuses or infants usually present with Potter syndrome, and they are more likely to develop severe renal insufficiency. Generally, patients die perinatally or in infancy. Liver involvement has been reported in adults with ARPKD who have survived the neonatal period and childhood. However, renal involvement is rarely expected in adulthood. The case is being presented for its clinical rarity, in addition to emphasize the critical role of NGS approaches in diagnosis.

Case presentation
We hereby describe a 33-year-old female with adult-onset proteinuria and nephromegaly. She had a rare homozygous missense mutation of the PKHD1 gene with autosomal recessive inheritance. The proband has consanguineous heterozygote parents. The mutation was identified by whole-exome sequencing, and the results were confirmed by segregation analysis.

Conclusion
Here, we reported a thorough literature review of late-onset autosomal recessive polycystic kidney disease. Furthermore, we explored the importance of genetic work-up in families with genetic disorders and consanguineous marriages, particularly in underdeveloped countries.
Metabolic syndrome severity z-score in non-diabetic non-obese Egyptian patients with chronic hepatitis c virus infection
Authors: Askar Safaa R. , Hagag Radwa S. , Ismail Moamen A. , Aly Heba I. 
Published: November 2024

Abstract
Background
The risks of heart disease, resistance of insulin, and diabetes mellitus type II are increased in individuals diagnosed with metabolic syndrome. Furthermore, there is an increase in the vascular and neurological effects. This study aimed to assess the isolated independent impact of hepatitis C virus (HCV) on metabolic syndrome, excluding obesity and diabetes mellitus as common risks, this impact was assessed using the metabolic syndrome Severity Z-score (MetS Z-Score) which was initially designed to assess metabolic disease severity itself. Fifty-one HCV patients non-obese and non-diabetic who visited the Tropical Medicine Department from July 2023 to June 2024 were included in our prospective cross sectional study.

Results
After calculation of MetS Z-Score, strong correlations were observed between MetS Z-score and the following data: HDL, fasting insulin, fasting blood sugar, HOMA-IR and hypertension (P value < 0.05). Moreover, The MetS Z-Score was found to have higher values in hypertensive patients. Jaundice shows a near to significance correlation with the MetS Z-Score. Anemia, hypoalbuminemia and thrombocytopenia were observed in the included HCV patients. Low density lipoprotein, alanine aminotransferase, aspartate aminotransferase, cholesterol and triglycerides have shown higher levels than normal in the included HCV patients.

Conclusion
The MetS Z-score can be used for determining the severity of metabolic abnormalities in HCV patients who are neither diabetic nor obese.
Impact of empirical treatment in patients with extrapulmonary tuberculosis and their outcome
Authors: Rajagopal Jayakumar , S Lavanya , S Ruthra kumar 
Published: November 2024

Abstract
Background
Tuberculosis (TB), primarily caused by mycobacterium tuberculosis (Mtb), remains a significant public health concern globally, particularly in low-resource settings. Extrapulmonary tuberculosis (EPTB), which affects organs beyond the lungs, presents diagnostic and treatment challenges, necessitating improved clinical management strategies. This work was aimed to assess the impact of empirical anti-TB treatment on the outcomes of patients with extrapulmonary tuberculosis and to analyze the demographic and risk factors associated with EPTB.

Methods
A retrospective cohort study was conducted over three years (2020–2023) at PSG Hospitals, Coimbatore. Ninety-two subjects, all with negative microbiological results but symptoms indicative of EPTB, were carefully selected.

Results
A total of 92 patients were included in the study, all of whom had negative microbiological diagnosis with symptoms suggestive of EPTB. The mean age of patients was 58.14 years, with a male predominance (59.78%). Pleural effusion was the most common EPTB site, with many patients having no co-morbidities. Occupational factors, such as cotton millwork, and lifestyle factors, including alcohol use and malnutrition, were prominent risk factors. Clinical manifestations varied, with fever being the most common symptom. Treatment completion was 65.22%, falling below National Tuberculosis Elimination Program (NTEP) guidelines, with notable loss to follow-up and mortality rates.

Conclusion
Empirical treatment for EPTB showed notable improvement in the patient's symptoms and overall health. However, challenges persist in treatment completion, especially among socioeconomically disadvantaged populations. Early detection, prompt treatment initiation, and comprehensive management are essential to address the multifaceted challenges posed by EPTB effectively.
Ikony z kolekcji Profesora Wiesława Litewskiego w zbiorach Muzeum Uniwersyteckiego w Toruniu. Katalog
Authors: Waszak Przemysław 
Published: November 2024

The monograph devoted to the collection of 19th-century, pre-revolutionary Russian icons donated by Professor Wiesław Litewski to Nicolaus Copernicus University in Toruń presents the world of the sacred in relation to Eastern Christianity in 37 extensive catalogue notes. The book is based on studies of icons found in the University Museum's warehouses conducted by the author, as well as on thorough studies of sources and numerous subject literature concerning icons themselves and related to them contextually. The publication is characterised by an extensive scientific apparatus. Stylistic-iconographic, historical and contextual analyses are supplemented with quotes from various language versions of the Bible, fragments of sources, literary works, and inscriptions. The extensive first chapter introduces the reader to the world of art originating from early Byzantine times, with a long artistic tradition. The second outlines the profile of the Donor. This richly illustrated book allows one to get to know each icon more carefully and study the details, scenes, figures, or inscriptions, while simultaneously reading the explanations and examinations of the Orthodox paintings.
Board Gender Diversity Reforms Around the World: The Impact on Corporate Innovation
Authors: Wang Kun Tracy , Cui Lin , Zhu Nathan Zhenghang , Sun Aonan 
Published: November 2024

In response to persistent gender inequality in corporate leadership, many countries have implemented board gender diversity reforms, either through legislation or by revising governance codes for board appointments. Whereas these reforms aim to enhance women’s representation and influence in leadership roles, their effects on corporate outcomes, such as innovation, remain unclear. This study develops a two-mechanism institutional contingency model to investigate how board gender diversity reforms affect firm innovation through representation and empowerment mechanisms. Using a unique hand-collected data set on worldwide board gender diversity reforms and a quasi-experimental difference-in-differences design, we find that these reforms significantly improve innovation outcomes, with the empowerment mechanism having a stronger positive effect than the representation mechanism. Additionally, we show that rule-based reforms, although they are effective at increasing female board representation, often lead to symbolic compliance and tokenism, which limits their ability to enhance innovation. In contrast, comply-or-explain reforms, which emphasize empowerment and genuine engagement, yield more meaningful progress in firm innovation. Our findings also reveal that countries with higher prereform gender disparities and a larger pool of qualified female directors experience greater innovation gains following the implementation of these reforms. By distinguishing between the effects of representation and empowerment, this study provides a nuanced understanding of how gender diversity regulations can serve as catalysts for innovation and offers valuable insights for policymakers designing reforms to promote gender equality and economic outcomes. Funding: K. T. Wang and L. Cui gratefully acknowledge financial support from the College of Business and Economics at the Australian National University, and N. Z. Zhu acknowledges financial support from the School of Management at Zhejiang University. Supplemental Material: The online appendix is available at https://doi.org/10.1287/orsc.22.16956 .
EVALUATING THE BIOMECHANICAL EFFICACY OF 2.5-MM AND 2.0-MM DOUBLE PLATING AGAINST 3.5-MM SINGLE PLATING IN ULNAR SHAFT FRACTURE FIXATION: A CADAVERIC STUDY
Authors: Zderic I. , Kraus M. , Rossenberg L. v. , Puls L. , Pastor T. , Gueorguiev B. , Richards G. , Pape H. C. , Pastor T. 
Published: November 2024

IntroductionThe main postoperative complications in fixation of ulna shaft fractures are non-union and implant irritation using currently recommended 3.5-mm locking compression plates. An alternative approach using a combination of two smaller plates in orthogonal configuration has been proposed. The aim of this study was to compare the biomechanical properties of a single 3.5-mm locking compression plate versus double plating using one 2.5-mm and one 2.0-mm mandible plate in a human ulna shaft fracture model.MethodEight pairs human ulnar specimens with a standardized 10-mm fracture gap were pairwise assigned for instrumentation with either a single 3.5-mm plate placed posteriorly, or for double plating using a 2.5-mm and a 2.0-mm mandible plate placed posteriorly under the flexor muscles and laterally under the extensor muscles. All constructs were initially non-destructively biomechanically tested in axial compression, torsion, and bending, which was followed by cyclic torsional loading to failure. Interfragmentary movements were monitored by means of optical motion tracking.ResultThere were no significant differences between the two plating techniques for axial stiffness (p=0.335), torsional stiffness in supination (p=0.462), torsional stiffness in pronation (p=0.307), medio-lateral bending stiffness (p=0.522), and antero-posterior bending stiffness (p=0.143). During cyclic torsional loading over the first 3000 cycles, there were no significant differences between the two plating techniques for shear displacement across the fracture gap, p=0.324. The numbers of cycles until clinically relevant failure of 5° angular deformation were 1366±685 for double plating and 2024±958 for single plating, which was statistically non-significantly different, p>0.05. The constructs treated with both plating techniques failed due to bone breakage at the most distal screw.ConclusionFrom a biomechanical perspective double plating of ulna shaft fractures using a 2.5-mm and a 2.0-mm locking mandible plate demonstrated equivalent fixation strength as conventional plating using a single 3.5-mm locking compression plate.
BONE-IMPLANT PRIMARY STABILITY PREDICTION BY CBCT-BASED FINITE ELEMENT SIMULATIONS
Authors: Vautrin A. , Thierrin R. , Wili P. , Voumard B. , Rauber C. , Klingler S. , Chapuis V. , Varga P. , Zysset P. 
Published: November 2024

IntroductionAchieving an appropriate primary stability after implantation is a prerequisite for the long-term viability of a dental implant. Virtual testing of the bone-implant construct can be performed with finite element (FE) simulation to predict primary stability prior to implantation. In order to be translated to clinical practice, such FE modeling must be based on clinically available imaging methods. The aim of this study was to validate an FE model of dental implant primary stability using cone beam computed tomography (CBCT) with ex vivo mechanical testing.MethodThree cadaveric mandibles (male donors, 87-97 years old) were scanned by CBCT. Twenty-three bone samples were extracted from the bones and conventional dental implants (Ø4.0mm, 9.5mm length) were inserted in each. The implanted specimens were tested under quasi-static bending-compression load (cf. ISO 14801).Sample-specific homogenized FE (hFE) models were created from the CBCT images and meshed with hexahedral elements. A non-linear constitutive model with element-wise density-based material properties was used to simulate bone and the implant was considered rigid. The experimental loading conditions were replicated in the FE model and the ultimate force was evaluated.ResultThe experimental ultimate force ranged between 67 N and 789 N. The simulated ultimate force correlated better with the experimental ultimate force (R2=0.71) than the peri-implant bone density (R2=0.30).ConclusionThe developed hFE model was demonstrated to provide stronger prediction of primary stability than peri-implant bone density. Therefore, hFE Simulations based on this clinically available low-radiation imaging modality, is a promising technology that could be used in future as a surgery planning tool to assist the clinician in evaluating the load-bearing capacity of an implantation site.AcknowledgementsFunding: EU's Horizon 2020 grant No: 953128 (I-SMarD).Dental implants: THOMMEN Medical AG
INCIDENCE AND TREATMENT TRENDS OF TROCHANTERIC FRACTURES IN GERMANY: A COHORT STUDY COVERING 1.16 MILLION FRACTURES IN 15 YEARS
Authors: Rau Y. , Amtsfeld J. , Reimers N. , Behrends L. , Hinz N. , Schulz A. P. 
Published: November 2024

IntroductionHip fractures, with a global age-standardised incidence rate (per 100,000 population) of 187.2 (2019), are a major public health problem. With a 7.71 billion population worldwide in 2019, hip fractures, in general, are affecting around 14.43 million people per year globally.We aim to provide a nationwide epidemiological analysis of trochanteric fractures and their respective surgical treatments. In this study we research the epidemiology of trochanteric and subtrochanteric fractures, as well as their most common kinds of osteosynthesis, on a nationwide scale in Germany.MethodData was retrieved from the national database of the German Ministry of Interior. ICD-10-GM and OPS-data from the period of 2006-2020 were analyzed, all patients with trochanteric/subtrochanteric fractures were included. Patients were grouped by age/gender and linear-regression was performed to calculate statistically significant correlations between variables/incidences.Result985,104 trochanteric and 178,810 subtrochanteric-fractures were reported during the analyzed period. This calculates to a mean incidence of 80.08±6.34 for pertrochanteric and 14.53±1.50 for subtrochanteric fractures per-million-inhabitants. In both fracture-types, a distinct dependence of incidence on age can be seen. Incidence rates equally rise in both sexes through the age groups with an increase of about 288-fold from those under 60 to those over the age of 90 in pertrochanteric fractures. Intramedullary nailing was the most common kind of treatment for both fracture types with augmentative cerclages on the rise throughout the whole period. Dynamic compression screws were decreasing in frequency.ConclusionWe found an ongoing increase of incidence among the elderly and an increase in intramedullary nailing as well as augmentative cerclages. Not only could we show an age-dependence of the incidences, but also a sex-dependence that seems to remain consistent in its development. While younger males (<60 years) are at a higher risk than their female peers, older females are at significantly higher risk than their male peers.
DEVELOPING A SMALL ANIMAL TRAUMA MODEL FOR FEMORAL HEAD OSTEONECROSIS
Authors: Bal Z. , Takakura N. 
Published: November 2024

IntroductionFemoral head osteonecrosis (FHO) is a condition in which the inadequate blood supply disrupts osteogenic-angiogenic coupling that results in diminishment of femoral perfusion and ends up with FHO. The insufficient knowledge on molecular background and progression pattern of FHO and the restrictions in obtaining human samples bring out the need for a small animal trauma model to research FHO aetiology. Hence, this study aims to develop a mouse trauma model to elucidate the molecular mechanisms behind FHO.MethodLeft femoral head was dislocated from the hip joint, ligamentum teres was cut, and a slight circular incision was done around the femoral neck of 8-week-old male C57BL/6J mice to disrupt the blood supply to femoral head. Right hip joint was left unoperated as control. Animals (n=5 per time point) were sacrificed on 2-3-4-6-8-10-12 weeks, and ex-vivo µCT was taken to assess bone structural parameters. Haematoxylin/eosin (HE)- and immunohistochemical-staining (IHCS) for CD31 and EMCN were done to observe histology and marrow-specific H-type vascular structures, respectively.ResultμCT assessment showed trabecular bone loss and decreased BV/TV from 2 to 8 weeks in FHO side. HE staining displayed the increased number of empty lacunae was observed in FHO side as early as 24h after operation. By 4th week, IHCS results displayed the invasion of the epiphyseal plate by H-type blood vessels in FHO side, while the epiphyseal plate was observed intact in control side. Also, by 6th week the HE-staining showed the presence of bone marrow necrosis and bone fat accumulation in FHO side.ConclusionTrabecular bone loss, increased number of empty lacunae, bone fat imbalance and bone marrow necrosis are reported as the signs of osteonecrosis. Thus, our results are coherent with the literature and indicated that we were able to effectively generate a trauma model for FHO in mice for the first time in literature.
ASSESSING ROTATOR CUFF COMPENSATIONS: EFFECTS OF SUPERIOR CAPSULAR RECONSTRUCTION (SCR) AND LOWER TRAPEZIUS TRANSFER (LTT) ON TERES MINOR AND SUBSCAPULARIS FORCES IN CADAVERIC SHOULDER MODELS
Authors: Mungalpara N. , Kim S. , Baker H. , Lee C. , Shakya Aa , Chen K. , Athiviraham A. , Koh J. , Elhassan B. , Maassen N. H. , Amirouche F. 
Published: November 2024

IntroductionSupraspinatus and infraspinatus tears (Massive Rotator Cuff Tear- MRCT) cause compensatory activation of the teres minor (TM) and subscapularis (SubS) to maintain humeral head alignment. This study measures force changes in TM and SubS using a dynamic shoulder testing setup. We hypothesize that combining superior capsule reconstruction (SCR) and lower trapezius tendon (LTT) transfer will correct rotator cuff forces.MethodsEight fresh-frozen human shoulder specimens from donors aged 55-75 (mean = 63.75 years), balanced for gender, averaging 219.5 lbs, were used. Rotator cuff and deltoid tendons were connected to force sensors through a pulley system, with the deltoid linked to a servohydraulic motor for dynamic force measurement. The system allowed unrestricted humeral abduction from 0 to 90 degrees.ResultsTeres Minor (TM):Control: 7.43 N (SD = 1.66)SS tear: 5.46 N (SD = 1.45)MRCT: 3.94 N (SD = 1.43)LTT post-MRCT: 5.85 N (SD = 1.13)SCR post-MRCT: 4.68 N (SD = 0.71)Combined LTT+SCR: 6.43 N (SD = 1.24)TM force reduction: 26.51% post-SS tear, 46.97% from intact to MRCT, 63.20% increase with LTT+SCR.Subscapularis (SubS):Control: -0.73 N (SD = 0.43)SS tear: -0.46 N (SD = 0.36), 36.99% increaseMRCT: 0.96 N (SD = 0.47), 31.51% increaseLTT post-MRCT: -0.32 N (SD = 0.47), 66.67% reductionSCR post-MRCT: -0.28 N (SD = 0.16), 70.83% reductionCombined LTT+SCR: -0.66 N (SD = 0.32), 31.25% reductionNon-parametric Friedman's ANOVA showed overall statistical significance for TM (P = 1.083×10-6) and SubS (P = 4.77×10-4).ConclusionThe cadaveric model assesses rotator cuff compensations, showing significant TM force reductions following rotator cuff tears and improvements with LTT and SCR, particularly when combined. SubS exhibited negative force during normal abduction but compensated during MRCT, returning to normal values post-LTT and SCR.
THE UTILITY OF EXTENDED BACTERIAL CULTURES AND NEXT-GENERATION SEQUENCING IN IDENTIFYING PATHOGENS IN ‘CULTURE NEGATIVE’ FRACTURE-RELATED INFECTIONS
Authors: Menon J. , Murugan T. , Biswas R. , K Prashanth 
Published: November 2024

IntroductionIdentification of the causative pathogen in musculoskeletal infection is critical as it directs further treatment. Fracture-related infection is often associated with ‘no growth’ in standard culture. We investigated the efficiency of two alternate methods to identify the causative pathogen, namely extended bacterial culture and 16Sr RNA gene sequence analysis with next generation sequencing (NGS) in ‘culture negative’ fracture related infections.MethodPatients were diagnosed as having fracture related infection based on the MSIS criteria (n=120). All patients had samples taken for culture and sensitivity. All samples which were culture negative by standard culture methods formed the study group. These samples were subjected to further extended culture in both aerobic and anaerobic medium for 14 days to improve recovery of pathogens. Further, DNA isolated from implants from a sub-group of these culture negative patients were subjected to 16SrRNA gene amplification followed by Sanger sequencing. Subsequent sequencing analysis was performed using the Illumina NGS platform which identified and detected the most abundant genera/species present in those samples more precisely.Result57 culture negative samples formed the study group. Eight samples (14%) converted to positivity after 14 days of culture. Bacteroides fragilis was the commonest yield. 14 samples underwent 16SrRNA gene amplification followed by Sanger sequencing. Acinetobacter baumannii, Enterococcus faecalis, Pseudomonas aeruginosa were identified as common pathogens. Next generation sequencing (n=12) not only identified common pathogens like as Staphylococcus, Acinetobacter baumannii, but also many uncultivable species.ConclusionPositive results from extended bacterial culture are about 15%. The delay in definite identification of pathogens in extended culture may be critical in certain clinical situations. Molecular methods are quicker and have additional yield in culture negative infections. The exact role of all microorganisms identified by molecular methods in the pathogenesis of infection is unknown.