bluuebunny/crossref_metadata_2025_split huggingface dataset:
A novel TNFRSF1A mutation associated with TNF-receptor-associated periodic syndrome and its metabolic signature
Authors: Steiner Joachim D , Annibal Andrea , Laboy Raymond , Braumann Marie , Göbel Heike , Laasch Valentin , Müller Roman-Ulrich , Späth Martin R , Antebi Adam , Kubacki Torsten 
Published: February 2023

Abstract

Objective
We describe a family with a novel mutation in the TNF Receptor Superfamily Member 1A (TNFRSF1A) gene causing TNF receptor–associated periodic syndrome (TRAPS) with renal AA amyloidosis.

Methods
Case series of affected family members. We further investigated the plasma metabolome of these patients in comparison with healthy controls using mass spectrometry.

Results
In all symptomatic family members, we detected the previously undescribed variant c.332A&gt;G (p.Q111R) in the TNFRSF1A gene. Canakinumab proved an effective treatment option leading to remission in all treated patients. One patient with suspected renal amyloidosis showed near normalization of proteinuria under treatment. Analysis of the metabolome revealed 31 metabolic compounds to be upregulated and 35 compounds to be downregulated compared with healthy controls. The most dysregulated metabolites belonged to pathways identified as arginine biosynthesis, phenylalanine, tyrosine and tryptophan biosynthesis, and cysteine and methionine metabolism. Interestingly, the metabolic changes observed in all three TRAPS patients seemed independent of treatment with canakinumab and subsequent remission.

Conclusion
We present a novel mutation in the TNFRSF1A gene associated with amyloidosis. Canakinumab is an effective treatment for individuals with this new likely pathogenic variant. Alterations in the metabolome were most prominent in the pathways related to arginine biosynthesis, tryptophan metabolism, and metabolism of cysteine and methionine, and seemed to be unaffected by treatment with canakinumab. Further investigation is needed to determine the role of these metabolomic changes in the pathophysiology of TRAPS.
Regulatory capture’s third face of power
Authors: Li Wendy Y 
Published: February 2023

AbstractThe term ‘regulatory capture’ is frequently invoked to describe dysfunctional government institutions. In its casual use, it refers to a phenomenon in which regulations benefit regulated industries, rather than public interests. However, as an analytical concept, social scientists have struggled to empirically identify and define the processes in which capture emerges and sustains. In this article, I outline a cultural framework for regulatory capture by linking cultural sociology and the faces of power to existing capture theory. Through an ethnographic case study of digital trade provisions in international trade agreements, I show how capture occurs through the construction and manipulation of ‘public interests’. I trace how capture (a) emerges when industry lobbyists extend existing schemas of a policy network into new frames and (b) is institutionalized into regulatory agencies when policymakers adopt and enact these frames into knowledge production and law. Thus, capture appears through a veneer of consensus, which suppresses alternative interests and policy outcomes.
The Role of Lung Resident Mesenchymal Stromal Cells in the Pathogenesis and Repair of Chronic Lung Disease
Authors: Doherty Declan F , Roets Lydia , Krasnodembskaya Anna D 
Published: February 2023

Abstract
Mesenchymal stromal/stem cells are multipotent adult cells that can be extracted from numerous tissues, including the lungs. Lung-resident MSCs (LR-MSCs) are localized to perivascular spaces where they act as important regulators of pulmonary homeostasis, mediating the balance between lung injury/damage and repair processes. LR-MSCs support the integrity of the lung tissue via modulation of the immune response and release of trophic factors. However, in the context of chronic lung diseases, the ability of LR-MSCs to maintain pulmonary homeostasis and facilitate repair is diminished. In this setting, LR-MSC can contribute to the pathogenesis of disease, through their altered secretory and immunomodulatory properties. In addition, they are capable of differentiating into myofibroblasts, thereby contributing to the fibrotic aspects of numerous lung diseases. For example, in idiopathic pulmonary fibrosis, a variety of factors can stimulate their differentiation into myofibroblasts including tumor necrosis factor-α (TNF-(α), transforming growth factor-β1 (TGF-β1), endoplasmic reticulum (ER) stress, Hedgehog (HH), and Wingless/integrated (Wnt) signaling. Here, we review the current literature on the characterization of LR-MSCs and describe their roles in pulmonary homeostasis/repair and in the pathogenesis of chronic lung disease.
Stathmin 1 and p53 Expression in Cutaneous Squamous Cell Carcinoma and Precursor Lesions
Authors: Ozge Zorlu , Sevil Karabağ , Ahmet Yolcu , Hülya Albayrak , Sema Aytekin 
Published: February 2023

Abstract:
Studies on the relationship between stathmin 1 (STMN1) and cutaneous squamous cell carcinoma (cSCC) are limited. We aimed to evaluate the relationship between clinicopathological factors and STMN1 and p53 expressions in cSCC and compare them with those in the precursor lesions of cSCC and normal tissue. A total of 195 patients, followed between January 2014 and December 2021, with diagnoses of primary cSCC (n = 129), in situ cSCC (n = 20), or actinic keratosis (n = 46), as well as 29 histopathologically normal tissue samples, were included in the study. Immunohistochemical staining for STMN1 and p53 was performed. In the cSCC group, STMN1 scores were higher in poorly differentiated (P = 0.001) and ulcerated (P < 0.001) tumors. A linear relationship between STMN1 score and tumor area, tumor thickness, and mitosis was found (P = 0.001, P = 0.003, and P < 0.001, respectively). There was no statistically significant correlation between STMN1 and p53 scores. Our results support the previous view that STMN1 may be associated with some adverse clinicopathological and high-risk features of cSCC. To the best of our knowledge, this is the first and largest study to investigate STMN1 expression in cSCC, precancerous lesions of cSCC, and normal tissues.
Update and Extension of Release Criteria for Canine 117mSn Treatments
Authors: Arno Matthew G. , Stevenson Nigel , Smith Chad , Donecker John 
Published: February 2023

Abstract
Tin-117 m (117mSn) is used to treat dogs with osteoarthritic joints by radiosynoviorthesis. The internal conversion and Auger electrons emitted by the 117mSn provide the therapeutic effect. Sn-117 m also emits x rays and gamma rays, of which the most significant is 158.6 keV. Accurate information regarding the interactions of a person with a treated dog is needed to determine the person’s total dose and thus regulatory compliance; i.e., a time and motion study. Prior studies have characterized the radiation field emitted by a treated dog, determined the effective dose rates to a person based on those radiation fields, and evaluated dog-human interactions. These studies have been tied together to calculate the prospective dose to the owner of a treated dog. The behavior modifications needed to comply with public dose limits were identified, and a template for written instructions limiting dose was developed. Further calculations based on the written instructions were made to determine the necessary duration of the instructions. The result is guidance that may be used by veterinary practitioners to release treated dogs in accordance with the public dose limits.
Central Corneal Subbasal Nerve Plexus Abnormalities in Sjögren Disease: A Pilot Study
Authors: Nortey Jeremy , Tsang Adrian , Lopez Sarah , Gebreegziabher Elisabeth , Keenan Jeremy D. , Lietman Tom , Gonzales John A. 
Published: February 2023

Purpose:
Small-fiber neuropathy (SFN) is known to be associated with Sjögren disease (SjD), and in vivo corneal confocal microscopy can identify features compatible with SFN. Here, we performed a descriptive study to identify features of SFN of the corneal subbasal nerve plexus using in vivo confocal microscopy.

Methods:
We recruited 10 participants from the Sjögren's International Collaborative Clinical Alliance (SICCA), 1 new participant (in an effort to expand the SICCA cohort), and 22 healthy controls. All participants underwent slit-lamp examination and in vivo confocal microscopy of the central corneal subbasal nerve plexus centered about the central whorl to create a 30-image montage. Each image was analyzed with automated software (ACCmetrics, Manchester, United Kingdom) to produce 7 nerve metrics. We performed t-tests and age-adjusted regressions to make comparisons of nerve metrics between participants with SjD and healthy controls.

Results:
Most nerve metrics were significantly lower in participants with SjD compared with healthy controls. The mean corneal nerve fiber density was found to be 3.5 mm/mm2 in participants with SjD compared with 10.6 mm/mm2 in healthy controls (95% confidence interval, −8.4 to −0.93; P = 0.02). Within the 11 participants with SjD, 22 eyes were analyzed on confocal microscopy, and 16 of those eyes (from 9 individuals) did not have an identifiable central whorl. Within the 22 healthy controls, 22 eyes (right eye alone) were analyzed on confocal microscopy, and 21 of those eyes had an identifiable central whorl.

Conclusions:
SjD exhibits lower corneal nerve metrics compared with healthy controls. These findings suggest that features compatible with SFN can distinguish SjD from healthy controls and may serve as a potential novel biomarker in identifying SjD.
Expert Consensus on the Prevention and Treatment of Hemorrhagic Fever with Renal Syndrome
Authors: Jiang Hong , Huang Changxing , Bai Xuefan , Zhang Fuchun , Lin Bingliang , Wang Shiwen , Jia Zhansheng , Wang Jingjun , Liu Jing , Dang Shuangsuo , Zhao Yingren , Dou Xiaoguang , Cui Fuqiang , Zhang Wenhong , Lian Jianqi , Wang Guiqiang , Gao Zhiliang ,   Infectious Disease Branch of the Chinese Preventive Medicine Association, Infectious Diseases Branch of the Chinese Medical Association
Published: February 2023

Abstract
Hemorrhagic fever with renal syndrome (HFRS) is an acute zoonosis with a global distribution. China is one of the countries with a high incidence of HFRS, which has long endangered the lives and health of the Chinese people. The Infectious Disease Branch of the Chinese Preventive Medicine Association and the Infectious Diseases Branch of the Chinese Medical Association organized national multidisciplinary experts, based on domestic and international research results combined with experts’ practical experiences, to reach this consensus after thorough discussion. This consensus contains 17 recommendations aimed at prevention and identification of important clinical issues to further standardize the prevention, diagnosis, and treatment of HFRS.
A Case Report of a Pregnant Woman with COVID-19 and Tuberculosis
Authors: Song Weiwei , Li Jingru , Abulizi Nadila , Peng Tao , Fang Ke , Xie Na , Shu Zhanjun 
Published: February 2023

Abstract
We presented a case of a 32-week pregnant woman with coronavirus disease 2019 and tuberculosis delivering a healthy baby. She was treated with antituberculosis and other symptomatic treatments, and the nucleic acid test; the sputum tuberculosis bacterial smear turned negative; and the symptoms were significantly relieved.
Chimeric Antigen Receptor-Modified Immune Cells for Eradication of HIV Reservoirs
Authors: Re Guo-Fen , Tang Bei-Bei , Kou Jing , Hong Chen , Kuang Yi-Qun 
Published: February 2023

Abstract
Host immune surveillance can achieve powerful clearance of infectious pathogens. Acute human immunodeficiency virus type I (HIV-1) infection can establish viral reservoirs in humans, and persistent chronic activation by the virus exhausts the immune system and ultimately causes acquired immunodeficiency syndrome. Although antiretroviral therapy (ART) can reduce the viral load and viremia in patients, latent HIV-1 reservoirs are still the biggest challenge that needs to be overcome to eradicate the virus. However, the low or absent viral antigen expression and epitope mutation caused during durable ART result in host immune escape and reservoir cell inaccessibility. In addition, durable ART accompanied by inflammation and persistent activation of immune cells, especially dysfunction and/or exhaustion of T cells. With the development of immunology, genetics, and genetic engineering technology, researchers can construct chimeric antigen receptors (CARs) to modify immune cells to enhance HIV clearance. The important research goals of creating CARs to modify natural killer (NK) and T cells are an attempt to enhance the functional effects of immune cells and restore the function of the immune system. This article reviews the latent characteristics of HIV, the development of CAR molecules, and the strategies for reprogramming T cells and NK cells with CARs, and aims to clear the HIV reservoirs and related potential problems.
Pre-treatment Drug Resistance Could Impact the 96-Week Antiretroviral Efficacy in Treatment-Naive HIV-1–Infected Patients in Guangdong, China
Authors: Guo Pengle , Lan Yun , Li Quanmin , Ling Xuemei , Li Junbin , Tang Xiaoping , Hu Fengyu , Cai Weiping , Li Linghua 
Published: February 2023

Abstract

Background
With the high prevalence of pre-treatment drug resistance (PDR) and the potential impact to the virological inhibition, the detection of PDR was particularly necessary. This study aimed to determine the prevalence of PDR in Guangdong, China, and its impact on antiretroviral therapy (ART) in treatment-naive HIV patients.

Methods
A retrospective cohort study was conducted. A total of 1936 HIV-1–infected treatment-naive patients in the clinic of the infectious department, Guangzhou Eighth People’s Hospital, between August 2018 and December 2019 were assayed for PDR mutations before initiating ART. Patients with PDR mutations (PDR arm) were screened and compared with those without drug-resistant mutations (non-PDR arm). The rate of HIV-1 virologic failure (VF) and CD4+ T-cell counts of the 2 arms were compared at the 96th week after ART to evaluate the impact of PDR on the efficacy of ART.

Results
Pretreatment drug resistance was detected in 125 cases (6.46%) from the 1936 enrolled participants, most of which were resistant to non-nucleoside reverse transcriptase inhibitors (64.00%, 80/125). One hundred and eight of 125 completed the follow-up of 96 weeks (PDR arm). In this cohort, 52 patients whose ART regimen containing the resistant drug were grouped as con-PDR arm, and the remaining 56 patients whose ART regimen did not contain the resistant drug were grouped as non- con-PDR arm. A total of 125 patients without PDR were randomly selected as the control group (non-PDR arm), 112 of whom had completed the 96-week follow-up. At the 96th week after ART initiation, 7 patients (6.5%, 7/108) in the PDR arm and 1 patient (0.9%, 1/112) in the non-PDR arm developed VF, exhibiting a significant difference (χ
2 = 4.901, P = 0.029). Meanwhile, 3 patients (5.8%, 3/52) in the con-PDR arm developed VF; the rate was also higher than that in the non-PDR arm, but without a significant difference (χ
2 = 3.549, P = 0.095). The CD4+ T-cell count in the non-PDR arm increased more than the PDR arm (386.6 vs. 319.1 cells/μL, t = 2.448, P = 0.015) or the con-PDR arm (386.6 vs. 325.1 cells/μL, t = 1.821, P = 0.070) at 12 weeks after ART. However, no significant differences were observed in the CD4+ T-cell count from the 24th week after ART onward.

Conclusions
Pretreatment drug resistance was moderately prevalent in Guangdong, China, and could affect the antiretroviral efficacy during a 96-week observation period, indicating the need to closely monitor PDR before ART initiation.
Associated factors to human papillomavirus vaccine adhesion in adult women: a cross-sectional study
Authors: Sarabando Rita , Vilela-Gomes Ana , Reis Isabel , Pacheco Amália , Nogueira-Silva Cristina 
Published: February 2023

Abstract

Background:
The goal of human papillomavirus (HPV) vaccination is the decline of HPV related premalignant lesions, leading to prevention of cervical cancer. Vaccination against HPV is recommended until the age of 45 to prevent viral reinfections and reactivations. The aim of this study was to evaluate adhesion to HPV vaccination and their associated factors in adult women.

Methods:
Cross-sectional study in two tertiary hospitals, with a questionnaire distributed to women born between 1974 and 1992, from September till November 2019. Data collected included sociodemographic information, clinical information, knowledge about HPV, and the HPV vaccine and data regarding vaccine recommendation. Factors associated with vaccination were searched by bivariate and multivariate statistical analysis.

Results:
In 469 questionnaires, 25.4% (n = 119) women were vaccinated. The main reason for not vaccinating was the non-recommendation (n = 276; 70.2%). In bivariate analyses, vaccinated women were younger, predominantly not married, had higher educational level, and higher careers (P ≤ .001); an abnormal cytology, HPV infection or previous excision of the transformation zone were associated with a 3 to 4-fold increase in the odds of vaccination. Age, high-risk HPV infection, and knowing someone vaccinated remained factors independently associated with HPV vaccination in the multivariate analyses (P< .05). The recommendation of “vaccinate immediately” was independently associated with effectively doing it (P< .001).

Conclusions:
HPV vaccination is associated with vaccine recommendation, especially if it is recommended to do immediately. These results reinforce the need of health professionals to be aware of the impact that their recommendation has on adhesion to HPV vaccination.
Perioperative risk factors for delayed gastric emptying after pancreaticoduodenectomy: a meta-analysis of the complications
Authors: Deng Xiaowei , Niu Ting , Han Zhaolong , Liang Xing , Fu Zhiping , Tang Liang , Yang Guang , Li Judong , Liu An’an , Peng Junfeng , Zheng Minghui , Shao Chenghao 
Published: February 2023

Objective:
To evaluate the correlation between the incidence of delayed gastric emptying (DGE) in pancreaticoduodenectomy (PD) and the perioperative possible risk factors.

Methods:
We searched PubMed, Embase, Cochrane Library, and Medline for studies describing complications related to PD from 2018 to 2022. Statistical analysis was performed using Stata/SE16.0 software.

Results:
In 6 retrospective studies, 1 systematic review, and 1 randomized controlled trial (RCT) experiment, 12,419 patients (2174 and 10,245 patients, respectively, in DGE and no delayed gastric emptying [NDGE] groups). The preoperative American Society of Anesthesiologists (ASA) score between DGE and NDGE groups (log odds ratio [OR] = 0.23, 95% credible interval [CI]: 0.11–0.35, P < .01), operation time (mean diff. = 21.87, 95% CI: 15.96–27.78, P < .01), estimated intraoperative blood loss (EIBL; mean diff. = 70.67, 95% CI: 17.75–123.58, P < .05), postoperative pancreatic fistula (POPF) (log OR = 0.85, 95% CI: 0.24–1.46, P < .05) were statistically significant. No significant differences in preoperative body mass index (BMI), preoperative biliary drainage, and pancreatic texture were observed (P > .05).

Conclusion:
The incidence of DGE is significantly correlated with the operation time, preoperative ASA score, POPF, and EIBL,which suggests that the surgeon should thoroughly evaluate the patient through adequate preoperative examination before the operation. Finally, standardized practice and perfect technology are undoubtedly necessary to reduce complications.
Effectiveness of craniosacral therapy in the human suboccipital region on hamstring muscle: A meta-analysis based on current evidence
Authors: Jiang Wen-Bin , Samuel Okoye Chukwuemeka , Li Zhe , Chen Wei , Sui Hong-Jin 
Published: February 2023

Background:
Craniosacral therapy (CST) has remained controversial in the treatment of musculoskeletal disorders. To our knowledge, there is no larger sample size of research to demonstrate the effectiveness of craniosacral therapy in the human suboccipital region on hamstring muscle.

Methods:
To study whether the CST in the human suboccipital region could have a remote effect on the flexibility of the hamstring muscles, the Cochrane Library, Medline/Pubmed, CNKI, Embase, and Google Scholar were searched. Clinical trials assessing the effects of CST in short hamstring syndrome patients were eligible. Mean differences (MD) and 95% confidence intervals (CI) were calculated for the straight leg raise test (primary outcomes). The quality of the included studies was assessed using the Newcastle-Ottawa Scale. RevMan 5.3 software was used for data analysis.

Results:
Five controlled trials with a total of 238 participants were included. CST could effectively relieve the symptoms of short hamstring syndrome patients [the overall MD −9.47, 95% confidence interval (CI) −15.82 to −3.12, P < .000001]. The CST was better than the proprioceptive neuromuscular facilitation technique (MD 3.09, 95% CI 1.48–4.70, P = .0002). Sensitivity analysis shows that the frequency of treatment and who did the experiment might be the main sources of impact results.

Conclusion:
CST could change the flexibility of the hamstring muscles. CST had a better curative effect when compared to proprioceptive neuromuscular facilitation technique on the hamstring muscles.
Can 99Tcm-3PRGD2(ανβ3) and 18F-FDG dual-tracer molecular imaging change the therapeutic strategy for progressive refractory differentiated thyroid cancer: Case report
Authors: Zhang Yu , Li Yuxuan , Lin Zhiyi , Chen Wenxin 
Published: February 2023

Rationale:
The management of radioiodine refractory differentiated thyroid cancer (RAIR-DTC) represents a major challenge in thyroid cancer. The American Thyroid Association guidelines recommend the use of tyrosine kinase inhibitors (TKIs) for RAIR-DTC that does not respond to conventional treatment. Currently, imaging modalities that predict the response to TKI treatment based on morphological and functional features are lacking. we report a case of a patient with progressive RAIR lung metastases who underwent 2-deoxy-2-[18F]fluoro-D-glucose and 99technetiumm-three polyethylene glycol spacers-arginine-glycine-aspartic acid (99Tcm-3PRGD2) dual-tracer imaging and investigate the value of this imaging strategy for determining subsequent therapeutic schedules.

Patient concerns:
A 52-year-old man with advanced RAIR-DTC and progressive lung metastasis. After TKI treatment [sorafenib] lost its clinical benefits, the patient’s therapeutic response was evaluated as progressive disease. 2-deoxy-2-[18F]fluoro-D-glucose PET/CT and 99Tcm-3PRGD2 SPECT/CT were performed. There were multiple FDG-positive lesions in the lung. However, 99Tcm-3PRGD2 SPECT/CT showed only 1 lesion in the right middle pulmonary lobe with arginine-glycine-aspartic positivity.

Diagnosis:
RAIR-DTC.

Interventions:
Radiofrequency ablation was performed for only the lesion with RDG and FDG positivity.

Outcomes:
The patient quickly achieved partial response.

Lessons:
This case indicates that for progressive RAIR metastases, patients can benefit more from prioritizing treatment for lesions that are both arginine-glycine-aspartic and FDG positive.