bluuebunny/crossref_metadata_2025_split huggingface dataset:
Novel mutations in BBS genes and clinical characterization of Chinese families with Bardet–Biedl syndrome
Authors: Tao Tianchang , Liu Jia , Wang Bin , Pang Jijing , Li Xiaoxin , Huang Lvzhen 
Published: November 2022

Purpose Bardet–Biedl syndrome (BBS) is a rare autosomal-recessive inherited disorder characterized by multisystem anomalies. The objective of this study was to detect and analyse pathogenic variants in four Chinese families with BBS. Methods Comprehensive clinical examinations were performed to investigate and evaluate the phenotypes of the affected individuals from four families. Genomic DNA was extracted from peripheral blood. Next-generation sequencing (NGS) was performed for four families, and the presence of pathogenic variants was confirmed via Sanger sequencing. Results There were two males and three females with a mean age of 16.00 years. All probands displayed the primary clinical features of BBS. Mutation screening demonstrated four novel mutations: c.613C>T; p.Q205* in the BBS5 gene, c.1391C>G; p.S464* in the BBS10 gene, and c.155delC; p.S52* and c.1584T>G; p.Y528* in the BBS12 gene. Two previously reported mutations were also identified, including c.534 + 1G>T in the BBS2 gene and c.539G>A; p.G180E in the BBS10 gene. The bioinformatic analysis revealed that all the detected mutations in BBS genes were disease causing. Conclusions This study identified four novel BBS gene mutations in these Chinese families and further expanded the genotypic spectrum of BBS, thus contributing to the literature and understanding of this multisystem disease.
Unusual presentation of infectious crystalline keratopathy: A case report with literature review
Authors: Ng Pey Yih , Ahmad Marium J. , Ismail Fazliana , Lott Pooi Wah , Singh Sujaya 
Published: November 2022

Introduction Infectious crystalline keratopathy (ICK) is a rare corneal disease. ICK has been recognised in patients with immunocompromised cornea or post penetrating keratoplasty. Here we report a case of ICK in an apparently healthy cornea. Case description A 25-years old Chinese female, with no history of systemic or ocular disease, presented to the eye clinic with one-month history of right eye (RE) blurring of vision with foreign body sensation. On examination, there were dense white crystalline needle-like projections over inferior paracentral corneal stroma with intact epithelium. There was also presence of lower eyelid epiblepharon with lashes rubbing against the diseased area. Corneal scraping cultures were suggestive of bacterial infection. Patient responded well with corneal epithelium debridement, intensive topical antibiotics and epiblepharon correction to prevent further microtrauma. Conclusions The only contributing factor for ICK in our patient was trichiasis from epiblepharon. Repetitive microtrauma caused by the eyelashes lead to direct penetration and inoculation of normal ocular flora into the corneal stroma. Clinicians need to be vigilant in ruling out other possible causes such as lid abnormalities when managing an ICK patient without apparent risk factors.
Unilateral corneal arcus and conjunctival vessel alterations in cranial autonomic dysregulation: A case report
Authors: Dysli Muriel , Abegg Mathias , Kerkeni Hassen , Kalla Roger , Tappeiner Christoph 
Published: November 2022

Background Cranial autonomic dysregulation is a common symptom of patients suffering from cluster headache or migraine. The peripheral vascular dysfunction may increase the risk for ischemic or hemorrhagic strokes, myocardial infarction, retinal vasculopathy, cardiovascular mortality, and peripheral artery diseases. Furthermore, it may also manifest with ocular symptoms, e.g., increased lacrimation, conjunctival injection, and facial swelling. Case presentation We here report a case of a patient with migraine and ocular signs of a vascular dysregulation that have led to persisting changes of conjunctival vessels and to a corneal arcus. Conclusions Autonomic vascular dysregulation may not only cause headaches but also persisting changes of ocular tissues, e.g., conjunctival vessel alterations and a corneal arcus.
Outcomes of stent grafts for treatment of central venous disease in hemodialysis patients
Authors: Liu Zhanao , Huang Jian , Tang Yao , Huo Guijun , Cao Junjie , Yao Zhichao , Zeng Yuqi , Shen Liming , Zhou Dayong 
Published: November 2022

Background: To evaluate the effectiveness of stent graft (SG) for the treatment of central venous disease (CVD) in hemodialysis patients. Methods: Between January 2014 and April 2022, 122 patients on hemodialysis with symptomatic CVD were treated with percutaneous transluminal angioplasty (PTA) and bare-metal stent (BMS) or SG placement. The mean follow-up was 14.5 months (IQR: 8.0, 24.2). Patency rates of the target sites were calculated using Kaplan-Meier and log-rank studies. Multivariate Cox proportional hazard models were used to evaluate the association between various characteristics and target site primary patency. Results: Technical success rate was 100%. At 3, 6, 12, and 24 months, the target sites primary patency rates were 86.4%, 74.2%, 45.1%, and 30.4% for PTA; 94.7%, 78.6%, 60.8%, and 45.6% for BMS; and 94.0%, 92.0%, 82.4%, and 66.8% for SG, respectively, and the assisted primary patency rates were 86.5%, 80.4%, 63.8%, and 46.0% for PTA; 94.7%, 89.5%, 77.5%, and 71.1% for BMS; 100%, 100%, 97.8%, and 83.4% for SG, respectively. The Kaplan–Meier analysis indicated that SGs achieved better primary and assisted primary patency than PTA or BMS ( p<0.05). SG use and concomitant stenosis were the independent predictors of target site primary patency dysfunction in the multivariate analysis. Conclusions: This study confirmed the better long-term patency of SG in comparison with PTA and BMS for the treatment of CVD in hemodialysis patients.
Cancer Biomarkers in Liquid Biopsy for Early Detection of Breast Cancer: A Systematic Review
Authors: Duque Galo , Manterola Carlos , Otzen Tamara , Arias Cristina , Palacios Dennise , Mora Miriann , Galindo Bryan , Holguín Juan Pablo , Albarracín Lorena 
Published: November 2022

Background: Breast cancer (BC) is the most common neoplasm in women worldwide. Liquid biopsy (LB) is a non-invasive diagnostic technique that allows the analysis of biomarkers in different body fluids, particularly in peripheral blood and also in urine, saliva, nipple discharge, volatile respiratory fluids, nasal secretions, breast milk, and tears. The objective was to analyze the available evidence related to the use of biomarkers obtained by LB for the early diagnosis of BC. Methods: Articles related to the use of biomarkers for the early diagnosis of BC due to LB, published between 2010 and 2022, from the databases (WoS, EMBASE, PubMed, and SCOPUS) were included. The MInCir diagnostic scale was applied in the articles to determine their methodological quality (MQ). Descriptive statistics were used, as well as determination of weighted averages of each variable, to analyze the extracted data. Sensitivity, specificity, and area under the curve values for specific biomarkers (individual or in panels) are described. Results: In this systematic review (SR), 136 articles met the selection criteria, representing 17 709 patients with BC. However, 95.6% were case-control studies. In 96.3% of cases, LB was performed in peripheral blood samples. Most of the articles were based on microRNA (miRNA) analysis. The mean MQ score was 25/45 points. Sensitivity, specificity, and area under the curve values for specific biomarkers (individual or in panels) have been found. Conclusions: The determination of biomarkers through LB is a useful mechanism for the diagnosis of BC. The analysis of miRNA in peripheral blood is the most studied methodology. Our results indicate that LB has a high sensitivity and specificity for the diagnosis of BC, especially in early stages.
Dual role of nanoclay in the improvement of the in-situ nanofibrillar morphology in polypropylene/polybutylene terephthalate nanocomposites
Authors: Seraji Amir Abbas , Bajgholi Amir Ali 
Published: November 2022

The present study has addressed the effects of nanoclay on the properties of polypropylene (PP)/polybutylene terephthalate (PBT) blend fibers such as their dyeability and, rheological and resiliency behaviors which are produced by melt spinning. The results of the differential scanning calorimetry (DSC) analysis indicated that the presence of both nanoclay and PBT significantly influenced the crystallinity of PP which also confirmed their nucleating effects on the nanocomposite fibers. Compared to neat PP fibers, the incorporation of 0.5–1wt.% of nanoclay and 10 wt.% of PBT nanocomposite fibers caused approximately 23% and 52% enhancements in the resiliency and dye uptake respectively without using toxic carriers. The rheological analysis was carried out for investigating the viscoelastic behavior, and microstructural and dispersion of nanoclay in the nanocomposite fibers. The rheological behavior in the small amplitude oscillatory shear (SAOS) test demonstrated the percolation threshold network of the structure of PBT fibrils in the PP matrix. When the PBT domains are fibrillated, the storage modulus (G′) and complex viscosity increase compared to neat PP. Also, the nonterminal behavior at low frequencies indicates the uniform dispersion of nanoclay in fiber nanocomposites. These all cause the improvement of the melt strength of the PP matrix. Transmission electron microscopy (TEM) was used to study the dispersion and localization of nanoclay. Nanoclay has also played a compatibilizing role in the immisible PP/PBT blend and was localized mainly in the PBT disperse and interface, and therefore prevented coalescence. The role of the compatibility of nanoparticles is to decrease the mean diameter of the nano-fibrils to 75 nm, for the hot-drawn nanocomposite fibers, as measured by scanning electron microscopy (SEM). All of the above lead to increasing the melt strength and elasticity of the nanocomposites in the fiber spinning process.
Green Synthesis of Silver Nanoparticles from Aqueous Extract of Tinospora crispa Stems Accelerate Wound Healing in Rats
Authors: Osman Mahmud Shokhan , Hamad Shareef Suhayla , Jabbar Ahmed A. J. , Hassan Rawaz Rizgar , Jalal Hardy Khalid , Abdulla Mahmood Ameen 
Published: November 2022

Tinospora crispa has been known as an herbal medicine with many biological activities. The current study evaluates silver nanoparticles in accelerating the rate of wound healing and closure of excision wounds in rats. A novel technique was followed to synthesize nanosilver particles, x-ray diffraction, UV–Vis's spectroscopy, and transition electron microscope were used. Sprague Dawley rats (24) were separated into 4 clusters: vehicle group (G1), treated with Vaseline; positive control (G2), treated with the intrasite gel; Experimental groups (G3 and G4), treated with 175 and 350 ppm silver nanoparticles, respectively, with an excisional wound created on the neck area. Wounds were treated topically twice daily for two weeks and sacrificed on day fifteenth. Histology, immunohistochemistry (expression of Bax and HSP 70 proteins), and Masson Trichrome staining procedures disclose that wounds dressed with silver nanoparticles exhibited wound closure site contained less scar, less inflammatory cells, and more collagen compared vehicle group. The endogenous antioxidant enzymes (SOD and CAT) and TGF-β were significantly increased and lipid peroxidation (MDA) and TNF-α were decreased in wound tissue homogenate dressed with silver nanoparticles compared to the vehicle cluster. Silver nanoparticles suggestively improved cell proliferation and stimulated the rate of wound closure, with less scarring, and more fibroblast. Graphical abstract [Formula: see text]
Survival of Cancer Patients Treated with Non-Fermented Mistletoe Extract: A Systematic Review and Meta-Analysis
Authors: Loef Martin , Walach Harald 
Published: November 2022

Background: Mistletoe extracts (ME) are used in integrative cancer care to improve quality of life and to prolong survival. ME are available from different producers and differ in pharmaceutical processing, such as fermentation. In contrast to fermented ME, the impact of unfermented extracts on the survival of cancer patients has not yet been assessed in a meta-analysis. Methods: We searched the databases Embase, CENTRAL, Europe PMC, Clinicaltrials.gov, Opengrey and Google Scholar, and selected controlled studies on cancer patients treated with non-fermented ME. We included randomized controlled trials (RCTs) and non-randomized studies of intervention (NRSIs). The risk of bias was assessed with Cochrane’s ROB2 and ROBINS-I; a meta-analysis was conducted. Results: Eleven RCTs and eight NRSIs met the inclusion criteria. The studies were heterogeneous and their ROB2 and ROBINS-I displayed a moderate and high risk of bias, respectively. For RCTs, the pooled effect estimate of non-fermented ME on survival was HR = 0.81 (95% CI 0.69-0.95, P = .01). Subgroup analyses as well as the NRSIs estimation support the robustness of the finding. When active comparators are added to the analysis, the effect estimates become non-significant. Conclusion: The results may indicate a positive impact of non-fermented ME on the overall survival of cancer patients. High quality RCTs are necessary to substantiate our results. Prospero Registration: CRD42021233177
Examination of maternal near-miss experiences in the hospital setting among Black women in the United States
Authors: Byrd Tiffany E , Ingram Lucy A , Okpara Nkechi 
Published: November 2022

Introduction: The high rate of maternal mortality among Black women in the United States continues to gain attention; yet research has not yet fully illuminated the precursors to these events, most impactful among them being “maternal near misses.” A maternal near miss occurs when a woman nearly dies but survives a complication that occurred during pregnancy, childbirth, or within 42 days of termination of pregnancy. Researchers have focused on reviewing patient medical records after sentinel maternal events to help determine major contributors to them; however, qualitative studies with near-miss survivors, especially among Black women, may be a more useful approach. Methods: Using a qualitative methodology, we conducted semi-structured interviews with 12 Black women to explore how they perceived the care provided to them during their near-miss experiences. Our study also employed a phenomenology framework to understand the lived experience of Black women who had a maternal near miss in the context of a hospital setting. Results: We interviewed 12 women between October 2020 and March 2021. All participants had a maternal near miss between the years 2010 and 2020 and were aged between 19 and 41 years when they had their near-miss experience. These women identified communication, patient–provider relationship, skills/competency of staff, provider discrimination, systems issues, and emotional distress as major contributors to their experiences. Conclusion: Maternal near misses serve as a precursor to maternal mortality events. By listening to patients and their families recount their perspectives on what leads up to these near misses, we can unearth valuable lessons that can aid in the development of strategies and interventions to decrease the numbers of pregnancy-related deaths; especially among Black women who suffer disproportionately from maternal morbidity and mortality. Based on these findings, we recommend that hospitals and OB-GYN practices consider the unique predispositions of their Black patients; account for their own personal biases, revisit the near-miss experiences of past patients to keep patients central to care and build rapport between patients and hospital birthing support staff; and center discussions about improvements in care around racist structures and systems.
Long-term survival of 2997 finger metacarpophalanageal joint arthroplasties from the Norwegian Arthroplasty Register
Authors: Brendsdal Eirik S. , Lie Stein A. , Furnes Ove , Hove Leiv M. , Krukhaug Yngvar 
Published: November 2022

We present the long-time survival of 2997 primary metacarpophalangeal (MCP) joint implants from the Norwegian Arthroplasty Register from 1994 to 2019. Six different implants were compared in terms of survival and risk of revision. The majority of implants were inserted in patients diagnosed with inflammatory diseases and in women. The overall survival was found to be 94%, 89%, 85% and 84% after 5, 10, 15 and 20 years. The most prevalent reason for revision was a fractured prosthetic component, and the second was pain. Implants inserted in the right hand and in younger patients had a higher risk for revision. Sex, type of implant, finger treated, one- or two-component prosthesis, and inflammatory or non-inflammatory conditions did not influence the survival. The frequency of MCP joint implantations decreased during the observation period. Our data show satisfactory long-term survival of the MCP implants, with no difference found between implant types or concepts. Level of evidence: II
An Investigation Into Local Infusion Site Pain After Infusion of Ultra Rapid Lispro Excipients Across Sites and Depths
Authors: Ignaut Debra , Fukuda Tsuyoshi , Bandi Ramanjineyulu , Ermer Marcel , Stoffel Marc S. , Zijlstra Eric , Paavola Chad 
Published: November 2022

Background: This phase 1, randomized, one-day, five-period crossover study in adults with type 1 diabetes on continuous subcutaneous insulin infusion investigated local infusion site pain following infusion of the excipients of ultra rapid lispro (URLi; without insulin) across infusion sites and depths. Methods: Forty participants (mean age, 40.5 years; body mass index [BMI], 27.5) were randomized to one of five infusion site sequences consisting of the arm, thigh, buttock (6 mm cannula depth), and abdomen (6 and 9 mm depth). Basal infusion of sodium citrate and treprostinil in diluent with magnesium chloride was initiated (10 μL/h) and at three, six, and nine hours after basal initiation, 15 unit-equivalent boluses (150 μL) were given. Participants rated their pain on a 0 to 100 mm validated visual analog scale (VAS) at 5 minutes pre-bolus and 1 and 15 minutes post-bolus. Results: At one minute post-bolus, increased VAS scores were occasionally reported. Most one minute post-bolus scores were ≤10 mm (little to no discomfort) while 7 of 577 were >45 mm (generally considered clinically meaningful pain). Painful infusions were reported more frequently for the arm, and mean VAS scores were higher for the arm compared with the thigh and abdomen. The VAS score distributions were similar between cannula depths. By 15 minutes post-bolus, VAS scores returned to pre-bolus levels. Conclusions: Local infusion site discomfort after infusion of URLi excipients was reported by a small subset of participants; it was transient, tolerable, and dependent on infusion site but not infusion depth. Given differences within individuals, patients may consider using a different infusion site if they experience discomfort. Clinicaltrial.gov identifier: NCT05067270.
Effect of Bone Marrow Aspirate Concentrate and Platelet-Rich Plasma Augmentation on the Rate of Revision Rotator Cuff Repair
Authors: Schoch Bradley S. , Werner Brian C. , Shapiro Shane A. , Camp Christopher L. , Chalmers Peter N. , Cancienne Jourdan M. 
Published: November 2022

Background: The application of orthobiologics at the time of arthroscopic rotator cuff repair (RCR) has received an increasing amount of clinical interest despite a relative scarcity of human clinical studies on their efficacy. Purpose: To utilize a national administrative database to determine the association of bone marrow aspirate concentrate (BMAC) and platelet-rich plasma (PRP) applied at the time of RCR with revision surgery rates. Study Design: Cohort study; Level of evidence, 3. Methods: The Mariner data set from the PearlDiver patient records repository was utilized to identify patients undergoing RCR using Current Procedural Terminology (CPT) code 29827. Patients receiving BMAC or PRP at the time of RCR were then identified using CPT coding. For comparison purposes, a matched cohort was created consisting of patients who underwent RCR without biologic augmentation in a 5:1 fashion for each biologic separately. Cases were matched according to age, sex, tobacco use, biceps tenodesis, distal clavicle excision, and subacromial decompression. All groups were then queried for revision RCR or conversion to reverse shoulder arthroplasty. Revision rates were compared utilizing a multivariate binomial logistic regression analysis. Adjusted odds ratios (ORs) and 95% CIs were calculated. Results: A total of 760 patients who underwent biologic augmentation during RCR were identified, including 646 patients in the PRP group and 114 patients in the BMAC group. They were compared with 3800 matched controls without documented biologic application at the time of surgery. Compared with matched controls, patients who received BMAC at the time of surgery experienced a significantly lower incidence of revision surgery at 2 years (OR, 0.36; 95% CI, 0.15-0.82; P = .015). There was no significant difference in revision rates between PRP and matched controls (OR, 0.87; 95% CI, 0.62-1.23; P = .183). Conclusion: The application of BMAC at the time of RCR was associated with a significant decrease in the incidence of revision surgery. There was no apparent effect of PRP on the incidence of revision surgery after primary RCR. Higher-level clinical studies considering surgical factors are needed to more clearly define the role of biologic adjuvants in RCR.
Regular-Season Injury Rates in the National Football League After an Attenuated Preseason Due to COVID-19
Authors: Volpi Alexander , Haselman William , Photopoulos Christos , Banffy Michael 
Published: November 2022

Background: The preseason is a crucial time period for professional athletes to prepare for the upcoming season. However, due to the coronavirus 2019 (COVID-19) pandemic, the 2020 National Football League (NFL) preseason was canceled. As the regular season progressed, an increased number of injuries became apparent. Purpose/Hypothesis: The purpose of this study was to compare injury rates between the 2019 and 2020 NFL regular seasons after the canceled 2020 preseason. It was hypothesized that injury rates in the 2020 season would be the same or higher compared with 2019. Study Design: Descriptive epidemiology study. Methods: A public database of all 32 NFL teams was used to examine the movement of all players to injured reserve status as well as every player who missed a regular-season game due to injury for both the 2019 and the 2020 NFL regular seasons. Data collection consisted of tallying the total number of reported musculoskeletal injuries for each team. Comparisons of injury rates between the 2 seasons were made using a Wilcoxon signed-rank statistical analysis. Results: The total number of musculoskeletal injuries was 632 for the 2019 regular season and 765 for the 2020 regular season ( P = .0324). Compared with 2019, statistically significant increases in injury rates in 2020 were seen for calf or Achilles tendon strain (17 vs 39; P = .009), groin injury (25 vs 46; P = .018), and anterior cruciate ligament tear (14 vs 29; P = .016). There were several other increased trends in soft tissue injury rates in the 2020 season (eg, hamstring injury [87 vs 114; P = .085]); however, these did not reach statistical significance. Conclusion: This study showed a significant increase in total injuries during the 2020 COVID-19-affected NFL regular season compared with 2019. Several major soft tissue injuries reached statistical significance in their increase from 2019 to 2020 after the cancellation of the 2020 preseason due to COVID-19. These findings suggest that organized team preseason training and conditioning could have an effect on the prevention of sport-related injury at the highest level.