bluuebunny/crossref_metadata_2025_split huggingface dataset:
Successful haploidentical stem cell transplantation in a 3-month-old child with reticular dysgenesis using post-transplant cyclophosphamide: A case report &amp; literature review from Pakistan
Authors: GHIAS ZAINAB , JAFRI RABAB ZEHRA , SAMAD SHAFAQ , SIDDIQUI SAIMA , FARZANA TASNEEM , ZAIDI UZMA 
Published: October 2023

Abstract

Reticular dysgenesis is the most severe and rarest form of primary immunodeficiency disorder. Children with severe combined immunodeficiency mainly have lymphopenia. But this rare variant has an additional feature of neutropenia not responding to growth factor. There should be a high index of suspicion for this disease if any infant is presenting with recurrent infections with persistently low myeloid and lymphoid cell lines. A late preterm and low birth weight baby was found to have bi cytopenia incidentally. Presumed sepsis was treated but there was persistent lymphopenia and neutropenia. He had recurrent infections that raised the suspicion of immunodeficiency. He was a product of consanguineous marriage. He was diagnosed with reticular dysgenesis on whole exome sequencing homozygous mutation in mitochondrial AK2 gene variant c.94-2A > G. At 3.5 months of age, he underwent a haploidentical bone marrow transplant using myeloablative conditioning. He had neutrophil and platelet engraftment on post-transplant day + 14 and day + 16 respectively. He maintained full donor chimerism (> 90%) at post-transplant D + 30, + 60 and + 120. Nine months after the transplant his blood counts dropped and he developed severe neutropenia not responding to GCSF. He was given a CD34 booster dose (6.6 x 10^6 cells per kg/recipient body weight). Then eventually his blood count recovered. After, twenty months of transplant, he presented with grade 3 chronic GVHD of nails. At post-transplant 2.5 years both T and B cell immune reconstitution have been achieved with full donor chimerism. Any child with repeated infections and combination of lymphopenia and neutropenia should have high index of suspicion for reticular dysgenesis.
Intrinsically stretchable thermoelectric materials for highly efficient thermal energy conversion
Authors: Kim Heesuk , Jang Doojoon , Lee Byeongmoon , Kang Young Hun , Chung Seungjun , Hong Yongtaek 
Published: October 2023

Abstract
Diversification of heat sources with intense deformation and dynamic changes presents mechanically harsh environments for thermal energy regulation, urging thermoelectric (TE) materials to simultaneously achieve intrinsic stretchability and high TE figure of merit (zT). Nevertheless, the evident trade-off between the two has circumscribed adopting conventional TE materials and technology for mechanically sustainable framework, thereby necessitating fundamental material-oriented breakthroughs. Herein, we develop restructured carbon nanotubes that flawlessly accommodate extreme deformation while harvesting heat with high efficiency. Restructuring the nanotube network with polymeric dopants and ionic liquid can independently promote electrical conductivity by hole-doping and regulating inter-nanotube connectivity. The established nanotube-polymer heterointerfaces instigate phonon scattering to suppress thermal conductivitry and facilitate TE efficiency (zT ≥10-1). Concurrently, such restructuring allocates greater free volume to the network and alleviates nanotube aggregation, thereby imparting extreme intrinsic stretchability (≥180%) with minimal compromise in TE performance. To demonstrate the outstanding advances enabled by such unprecedented pair of exceptional material stretchability and improved energy conversion efficiency, we showcase practical thermal energy regulation applications encompassing stretchable thermoelectric generators and Peltier-induced temperature regulation.
The Efficacy of Low-Intensity Shock Wave Therapy based on the Stratification of Erectile Dysfunction Patients: A Long-term Follow-up
Authors: Elshorbagy Galal , ElSayed Ahmed , ElGhoniemy Mohamed , Rassol Mohamed Abd El , ElKousy mohamed , Gharably Mohamed El 
Published: October 2023

Abstract
Objectives Low intensity extracorporeal shockwave therapy (LIESWT) significantly improves erectile function in patients with vasculogenic erectile dysfunction (ED). We aimed to evaluate the effect of LI-ESWT on different subtypes of ED and to assess through a long-term follow up how long the improvement in erectile function lasts.Methods This was a retrospective review of a prospectively maintained database at the department of urology at Cairo university hospitals. Patients with vasculogenic ED underwent 6–12 sessions of focal LI-ESWT 5000 impulses 0.01 j/mm2 using the electromagnetic Dornier Aries® 1 machine. All patients received at least 6 sessions of LI-ESWT. Then, patients were assessed clinically by using the erection hardness scores (EHS), and erectile function using the international index of erectile function (IIEF-EF) domain score at three months post LI-ESWT and every six months. Also, penile hemodynamics at three months post LI-ESWT and at the last follow up visit.Results 42 patients were identified with mean age 50 ± 12 years, mean ED duration 31 ± 35 months and mean follow up 10 ± 6 months. Overall IIEF-EF was 16 ± 6 and improved to 22 ± 6 at three months and to 21 ± 6 at last follow up (p < 0.01). Minimally important clinical difference was achieved in 69% at three months and in 60% of the whole cohort at last follow up. Risk factors associated with higher MICD at three months were age (p = 0.01), uncontrolled diabetes mellitus ratio (p = 0.04), hypertension (p = 0.24), cardiovascular (p = 0.8), smoker (p = 0.63), and ex-smoker (p = 0.3).Conclusion Li-ESWT have a potential long-term efficacy on different degrees of ED evidenced by the improvement in the penile hemodynamics at the final follow-up particularly in those with controlled diabetes mellitus and advancing age.
Video-based Peer Assessment of Collaborative Teamwork in a large-scale interprofessional learning activity
Authors: Roberts Chris , Jorm Christine , Nisbet Gillian , Gordon Chris , Chen Timothy , Held Fabian , Haq Inam 
Published: October 2023

Abstract

Background
The assessment of team performance in the context of large-scale Interprofessional Learning (IPL) initiatives is an important but underexplored area. It is essential for demonstrating the effectiveness of collaborative learning outcomes in preparing students for professional practice. Using Kane’s validity framework, we investigated whether peer assessment of student-produced videos depicting collaborative teamwork in an IPL activity was sufficiently valid for decision-making about team performance, and where the sources of error might lie to optimize future iterations of the assessment.
Methods
A large cohort of health professional students (n = 1218) of 8 differing professions was divided into teams containing 5–6 students. Each team collaborated on producing a short video to evidence their management of one of 12 complex patient cases. Students from two other teams, who had worked on the same case, individually rated each video using a previously developed assessment scale. A generalisability study quantified sources of error that impacted the reliability of peer assessment of collaborative teamwork. A decision study modeled the impact of differing numbers of raters. A modified Angoff determined the pass/fail mark.
Results
Peer assessment of collaborative teamwork was reliable (G = 0.71) based on scoring by students from two teams (n = 10–12) for each video. The main sources of variation were the stringency and subjectivity of fellow student assessors. Whilst professions marked with differing stringency, and individual student assessors had different views of the quality of a particular video, none of that individual assessor variance was attributable to the assessors’ profession. Teams performed similarly across the 12 cases overall, and no particular professions marked differently on any particular case.
Conclusion
A peer assessment of a student-produced video depicting interprofessional collaborative teamwork around the management of complex patient cases can be valid for decision-making about student team performance. Further refining marking rubrics and student assessor training could potentially modify assessor subjectivity. The impact of professions on assessing individual peers and the case-specificity of team performances in IPL settings need further exploration. This innovative approach to assessment offers a promising avenue for enhancing the measurement of collaborative learning outcomes in large-scale Interprofessional learning initiatives.
The brain-bone marrow axis and its implications for chronic traumatic brain injury
Authors: Ritzel Rodney M. , Li Yun , Jiao Yun , Doran Sarah , Khan Niaz , Henry Rebecca , Brunner Kavitha , Loane David , Faden Alan I. , Szeto Gregory , Wu junfang 
Published: October 2023

Abstract
Traumatic brain injury (TBI) causes acute and chronic alterations in systemic immune function which contribute to posttraumatic neuroinflammation and neurodegeneration. However, how TBI affects bone marrow (BM) hematopoietic stem/progenitor cells chronically and to what extent such changes may negatively impact innate immunity and neurological function has not been examined. To further understand the role of BM cell derivatives on TBI outcome, we generated BM chimeric mice by transplanting BM from chronically injured or sham congenic donor mice into otherwise healthy, age-matched, irradiated hosts. After 8 weeks of reconstitution, peripheral myeloid cells from TBIàWT mice showed significantly higher oxidative stress levels and reduced phagocytic activity. At eight months after reconstitution, TBIàWT chimeric mice were leukopenic, with continued alterations in phagocytosis and oxidative stress responses, as well as persistent neurological deficits. Gene expression analysis revealed BM-driven changes in neuroinflammation and neuropathology after 8 weeks and 8 months of reconstitution, respectively. Chimeric mice subjected to TBI showed that longer reconstitution periods were associated with increased microgliosis and leukocyte infiltration. Thus, TBI causes chronic activation and progressive dysfunction of the BM stem/progenitor cell pool, which drives long-term deficits in innate immunity and neurological function, as well as altered sensitivity to subsequent brain injury.
Retrospective Analysis of Three Posterior Open Surgical Approaches for the Intraoperative and Long-term Outcomes in the Treatment of Thoracolumbar Burst Fractures
Authors: Wang Tianxiong , Zhang Yuheng , Wang Rui , Chen Shizhan , He Yongjie , Wang Bingang 
Published: October 2023

Abstract

ObjectiveEvaluating the Intraoperative and Long-term Clinical Outcomes of Three Posterior Open Surgical Approaches for the Treatment of Thoracolumbar Burst Fractures.MethodsFollow-up observation of 145 patients with thoracolumbar burst fractures treated with three surgical approaches, including “traditional transpedicular four-screw fixation spanning the injured vertebral body (TFSV) (n=38), short-segment transpedicular four-screw fixation through the injured vertebral body (SFTV) (n=53), and six-screw fixation (STV) (n=54)”, at our institution from June 2014 to June 2022. Comparative analysis of perioperative parameters (operative time, intraoperative blood loss, postoperative 24-hour drainage), preoperative and postoperative radiological indices (sagittal plane Cobb angle, Vertebral wedge deformity index), postoperative functional recovery (VAS score, ODI score), and incidence of complications.ResultsThere was no significant difference in general data among the three groups. The SFTV group is superior to the other two groups in perioperative parameters (P＜0.001, P=0.023, P＜0.001). There was significant difference in sagittal plane Cobb angle at each time point among the three groups (P=0.025), but no significant difference in Vertebral wedge deformity index (P=0.299). The improvement of sagittal plane Cobb angle was slightly worse in the group of SFTV. The VAS and ODI scores before and after surgery in each group showed significant improvement (P＜0.001, P＜0.001); however, there were no statistically significant differences between the groups at the same time points (P=0.312, P=0.924). The incisions of all the patients healed at the first stage without any complications. At the end of follow-up, the Cobb angle increased more than 10 degrees in 3 cases (16.67%) in the TFSV group and in 1 case (5.56%) in the SFTV group.ConclusionThe treatment of thoracolumbar burst fracture with STV or SFTV is superior to the TFSV, SFTV is better than STV, but the indication of SFTV is limited.
Advancing Coronary Artery Disease Diagnosis: LncRNA Profiling of Small Extracellular Vesicles Derived from Peripheral Blood Mononuclear Cells
Authors: Liu Xuyang , Xiong Feng , Mao Rui , Zhang Lijuan , Zhao Ruohan , Tan Kunyue , Zhang Tongtong 
Published: October 2023

Abstract

Background
Long noncoding RNAs (lncRNAs) constitute integral components of many physiological processes and exhibit considerable impact on cardiovascular maladies. Nonetheless, the clinical utilization of lncRNAs as serological markers for diagnosing Coronary Artery Disease (CAD) remains unexplored.
Methods
To scrutinize lncRNA expression, we harnessed a lncRNA microarray to probe monocyte small extracellular vesicles (sEVs) derived from three CAD patients and an equivalent number of healthy controls. Differential lncRNA expression in both plasma and monocyte sEVs was corroborated via quantitative real-time PCR (RT-qPCR). A diagnostic prediction model for CAD, integrating lncRNA expression, was fabricated utilizing Random Forest and nomogram analyses.
Results
Data elucidated that 89 lncRNAs were upregulated, while 211 were downregulated in CAD patients compared to controls. Most notable were the upregulation of SNAR-E and downregulation of RPL34-AS1. The expression of SNAR-E correlated with Diabetes Mellitus (DM), Total Cholesterol (TC), High-Density Lipoprotein Cholesterol (HDL-C), and Low-Density Lipoprotein Cholesterol. Conversely, RP34L-AS1 expression corresponded to age alongside DM, TC, HDL-C, and Lipoprotein (a). Additionally, both SNAR-E and RP34L-AS1 displayed elevated diagnostic accuracy for CAD in plasma and sEVs, characterized by high sensitivity and specificity. The prediction model manifested robust diagnostic prowess and consistency.
Conclusion
SNAR-E and RPL34-AS1 in sEVs and plasma have higher sensitivity and specificity in diagnosing CAD than conventional electrocardiogram (ECG), dynamic ECG, or the treadmill exercise tests. The diagnosis model comprising these two molecules showed considerable accuracy and stability, and may assist in the early diagnosis of CAD and support clinical guidance.
Does non-surgical periodontal treatment contribute to rheumatoid arthritis amelioration? Evidence based on an overview and meta-analysis
Authors: Oliveira Sicília Rezende , Arruda José Alcides Almeida , Schneider Ayda Henriques , Ferreira Gilda Aparecida , Calderaro Débora Cerqueira , Costa Fernando Oliveira , Teixeira Antonio Lucio , Oliveira Renê Donizeti Ribeiro , Louzada-Júnior Paulo , Cunha Fernando Queiroz , Abreu Lucas Guimarães , Silva Tarcília Aparecida 
Published: October 2023

Abstract
To perform an overview by analyzing clinical outcomes in individuals with rheumatoid arthritis (RA) who underwent non-surgical periodontal treatment (NSPT). Electronic searches were conducted across four databases and gray literature with no restriction on language or publication date. The study followed the 2020 PRISMA statement. A meta-analysis was performed comprising 18 primary studies from SRs to examine the effects of NSPT (n = 201 subjects in the non-NSPT vs. n = 199 in the NSPT group) on 28-joint Disease Activity Score (DAS28). Nine SRs were analyzed; of these, six with meta-analyses and three without meta-analyses. The main outcomes evaluated were DAS28, C-reactive protein (CRP), and erythrocyte sedimentation rate (ESR). NSPT resulted in a significant decrease in CRP, ESR and DAS28, both in studies that included a control group (without NSPT) or in those comparing individuals before and after periodontal therapy. Follow-up period after NSPT ranged from 6 to 24 weeks. Despite the heterogeneity of data related to RA and periodontitis status and antirheumatic therapy, NSPT was able to reduce the levels of systemic inflammatory markers and RA activity.
Towards understanding flood risk and coping ability: Persisting gaps, adaptation measures and theoretical perspectives
Authors: Busayo Emmanuel Tolulope 
Published: October 2023

Abstract

Flood risk and coping ability is a major research thrust for appraisal in coastal areas of South Africa considering forecasts of looming flood events. This paper employed literature synthesis of relevant flood risk erudition, theoretical underpinnings of Social Vulnerability Theory (SVT) and Protective Motivation Theory (PMT) in conjunction with a field survey to understand flood risk and coping ability. Methods/models/data for flood risk evaluation in the literature synthesis were broadly classified into 5 types; (1) Approaches utilizing space-based solution (2) human-based solution (3) nature-based solution (4) financial-based solution and (5) Theoretical based approach. However, there is limited knowledge of cognitive, sociocultural, and psychological mechanisms in the flood risk scholarship in line with social responses in a flood event. To understand flood risks and damages on the society and to realise its psychological consequences, this knowledge is important. I surveyed (n = 150), a set of cognitive, and sociocultural key informants from the study area. This study recorded flood as the most predominant hydro-meteorological hazard (n = 118, 81.9%) in East London, coastal city. Findings show that all the nine indicators presented to capture extreme environmental events adaptation measures are extremely lacking. The findings presented in this study are fundamental in reaching the sustainable development goals (SDGs) goal 11: sustainable cities and communities, goal 13: climate action including the seven targets and four priorities for action of the Sendai framework for disaster risk reduction at a local level.
Metabolic Acidosis and Sexual Dysfunction in Chronic Kidney Patients; Who do not Receive Renal Replacement Therapy ,Cross-sectional study in a single center
Authors: Bek Sibel , Ilhan Elif , Sarioglu Irem , Balci Sibel , Tekdemir Ozge , Ergul Metin , Eren Necmi , Dervisoglu Erkan , Kalender Betul 
Published: October 2023

Abstract
In this study, it is aimed to investigate the prevalence of sexual disorders in patients in stage 2–5 stage chronic kidney disease and its relationship with laboratory parameters, including demographic, clinical and especially metabolic acidosis. This is a cross-sectional study consisting of 110 predialysis patients with chronic kidney disease and 110 healthy controls admitted to nephrology out-patient clinics. IIEF (International Index of Erectile Function) and FSFI (Female Sexual Function Index) questionnaire was applied to the patients and control group. The relationship between demographic, clinical and various biochemical parameters, sexual dysfunction in the patient group was assessed. Sexual dysfunction was detected in 76% of the female patients and 31.4% of the control group.FSFI total. Subscale scores of the patients were significantly lower than the control group. In male patients and controls, the frequency of erectile dysfunction was 56.7% and 33.3% respectively. The erectile function, sexual satisfaction and overall satisfaction scores of the IIEF scale were significantly lower than the control group. Female patients reported %40 regular menstrual cycles. Advanced age was associated with loss of libido in female patients, while erectile dysfunction was associated with loss of libido, orgasmic disturbance and sexual dissatisfaction in male patients. Low Glomerular filtration rate(GFR), high calcium(Ca) levels, increased CRP, anemia and metabolic acidosis in both genders. Testosterone deficiency in male patients were associated with sexual dysfunction. In multiple regression analysis, eGFR was the only independent variable associated with sexual dysfunction. The increase in Parathormone (PTH) and Prolactin levels was related to the loss of libido in both genders. Sexual dysfunction is widely observed in male and female patients with chronic kidney disease. There is a need for public awareness of sexual dysfunction, as well as specific studies to better characterize, assess, understand and treat. Clinical Implications:. Despite common neglect,sexual disorders in chronic kidney disease can be optimized with simple precautions Strengths&Limitations: This study contributes to the literature in sexual dysfunction about female CKD patients. Another prospective study should enstrength the findings. Conclusion: Metabolic acidosis and low eGFR seem to be the most important risk factors contributing sexual disorders in CKD patients.
Clinical application of nanopore sequencing for haplotype linkage analysis in preimplantation genetic testing for Duchenne muscular dystrophy
Authors: Xia Qiuping , Chang Tianli , Ding Taoli , Liu Zhen , Liu Jiaqi , Li Yanping , Yao Zhongyuan 
Published: October 2023

Abstract
Background
Duchenne muscular dystrophy (DMD) is an X-linked recessive disease that affects approximately 1 in 5,000 newborn males. Most patients die of cardiac failure and/or respiratory insufficiency at approximately 20–40 years of age. Preimplantation genetic testing for monogenic disorders (PGT-M) has been successfully used to help couples with DMD mutations produce an unaffected offspring. However, the current PGT-M based on next-generation sequencing (NGS) cannot provide an effective PGT technique for DMD that involves de novo mutations or an incomplete pedigree. This study assessed the feasibility of using nanopore sequencing in PGT-M for DMD. The accuracy of the nanopore sequencing results was confirmed using an NGS-based method, which was further validated through amniocentesis.
Results
Using nanopore sequencing, we successfully determined the breakpoints of the DMD mutation and identified a set of informative heterozygous single-nucleotide polymorphisms (SNPs) in the maternal carrier. Subsequently, we conducted a haplotype linkage analysis with embryonic SNPs without the need for additional family members and successfully identified a disease-free euploid embryo. These results were consistent with the findings obtained using NGS and aligned with the results of amniocentesis.
Conclusions
Our results suggest that nanopore sequencing is a potential tool for preimplantation haplotype linkage analysis in PGT-M for DMD, particularly in families lacking probands. This finding is essential for nanopore sequencing to aid in reducing the propagation of DMD in the population.