bluuebunny/crossref_metadata_2025_split huggingface dataset:
Corticosteroid switch from prednisone to dexamethasone in metastatic castration-resistant prostate cancer patients with biochemical progression on abiraterone acetate plus prednisone
Authors: Yang Zhenyu , Ni Yuchao , Zhao Diwei , Zhang Yijun , Wang Jun , Jiang Lijuan , Chen Dong , Wu Zhiming , Wang Yanjun , He Liru , Shi Yanxia , Zhou Fangjian , Zeng Hao , Li Yonghong 
Published: August 2021

AbstractBackgroundTo assess the efficacies and potential predictors of a corticosteroid switch in metastatic castration-resistant prostate cancer (mCRPC) patients with biochemical progression on abiraterone acetate plus prednisone (A + P).MethodsPatients with mCRPC treated between April 2016 and August 2020, who experienced biochemical progression on A + P and then switched to A plus dexamethasone (D), were retrospectively identified. The primary endpoint was progression-free survival (PFS), and the secondary endpoints were PSA response, overall survival (OS), and safety.ResultsOne hundred and thirty consecutive cases were enrolled. The median PFS and OS on A + D were 5.0 and 18.7 months, respectively. The best PSA decline of ≥50% (PSA50) and ≥ 30% (PSA30) were observed in 29.2 and 46.2% patients, respectively. Lower PSA at corticosteroid switch (≤ 20 ng/mL; median PFS, HR 0.63,p = 0.019; median OS, HR 0.38,p = 0.001) and longer mCRPC-free survival (≥ 18 months; median PFS, HR 0.61,p = 0.013; median OS, HR 0.51,p = 0.015) were identified as independent prognostic predictors associated with longer PFS and OS. A risk stratification tool was developed to select candidates for corticosteroid switch based on the independent prognostic predictors of PFS and OS.ConclusionsA corticosteroid switch from prednisone to dexamethasone is effective for mCRPC which progressed on A + P treatment. Patients with lower PSA at corticosteroid switch and/or longer mCRPC-free survival may gain more benefits by the corticosteroid switch.
Outcome and prognostic factors after lung transplantation for bronchiectasis other than cystic fibrosis
Authors: Hirama Takashi , Tomiyama Fumiko , Notsuda Hirotsugu , Watanabe Tatsuaki , Watanabe Yui , Oishi Hisashi , Okada Yoshinori 
Published: August 2021

AbstractBackgroundWhile lung transplant (LTX) can be an effective therapy to provide the survival benefit in selected populations, post-transplant outcome in LTX recipients with bronchiectasis other than cystic fibrosis (CF) has been less studied.Pseudomonas aeruginosa, often associated with exacerbations in bronchiectasis, is the most common micro-organism isolated from LTX recipients. We aimed to see the outcomes of patients with bronchiectasis other than CF after LTX and seek the risk factors associated with pre- and post-transplantPseudomonasstatus.MethodsPatients who underwent LTX at Tohoku University Hospital between January 2000 and December 2020 were consecutively included into the retrospective cohort study. Pre- and post-transplant prevalence ofPseudomonascolonization between bronchiectasis and other diseases was reviewed. Post-transplant outcomes (mortality and the development of chronic lung allograft dysfunction (CLAD)) were assessed using a Cox proportional hazards and time-to-event outcomes were estimated using the Kaplan–Meier method.ResultsLTX recipients with bronchiectasis experienced a high rate of pre- and post-transplantPseudomonascolonization compared to other diseases with statistical significance (p < 0.001 andp < 0.001, respectively). Nevertheless, long-term survival in bronchiectasis was as great as non-bronchiectasis (Log-rankp = 0.522), and the bronchiectasis was not a trigger for death (HR 1.62, 95% CI 0.63–4.19). On the other hand, the chance of CLAD onset in bronchiectasis was comparable to non-bronchiectasis (Log-rankp = 0.221), and bronchiectasis was not a predictor of the development of CLAD (HR 1.88, 95% CI 0.65–5.40).ConclusionsDespite high prevalence of pre- and post-transplantPseudomonascolonization, the outcome in LTX recipients with bronchiectasis other than CF was comparable to those without bronchiectasis.
Which factors influence treatment decision in fragility fractures of the pelvis? - results of a prospective study
Authors: Oberkircher Ludwig , Lenz Julia , Bücking Benjamin , Eschbach Daphne , Aigner René , Bliemel Christopher , Schoeneberg Carsten , Ruchholtz Steffen , Hack Juliana 
Published: August 2021

Abstract
Background
The aim of the present study was to describe specific characteristics of patients suffering from pelvic fragility fractures and evaluate factors that might influence treatment decisions which may optimize treatment pathways and patient mobility in the future.

Methods
A prospective study with patients suffering from fractures of the pelvis and aged 60 years or above was performed between 2012 and 2016. Data acquisition took place at admission, every day during hospitalization and at discharge.

Results
One hundred thirty-four patients (mean age of 79.93 (± 7.67) years), predominantly female (84%), were included. Eighty-six patients were treated non-operatively. Forty-eight patients underwent a surgical procedure. The main fracture types were B2 fractures (52.24%) and FFP IIb fractures (39.55%). At the time of discharge, pain level (NRS) could be significantly reduced (p <  0.001). Patients who underwent a surgical procedure had a significantly higher pain level on day three and four compared to the non-operative group (p = 0.032 and p = 0.023, respectively). Significant differences were found in the mobility level: patients treated operatively on day four or later were not able to stand or walk on day three as compared to non-operatively treated patients. Regarding B2 fractures, a significantly higher mobility level difference between time of admission and discharge was found in patients treated with a surgical procedure compared to patients treated non-operatively (p = 0.035).

Conclusions
Fracture type, mobility level and pain level influence the decision to proceed with surgical treatment. Especially patients suffering from B2 fractures benefitted in terms of mobility level at discharge when treated operatively.

Level of evidence
II
No staghorn calculi and none/mild hydronephrosis may be risk factors for severe bleeding complications after percutaneous nephrolithotomy
Authors: Dong Xue , Wang Dongnv , Zhang Huangqi , You Shuzong , Pan Wenting , Pang Peipei , Chen Chaoqian , Hu Hongjie , Ji Wenbin 
Published: August 2021

Abstract
Background
To explore the risk factors for severe bleeding complications after percutaneous nephrolithotomy (PCNL) according to the modified Clavien scoring system.

Methods
We retrospectively analysed 2981 patients who received percutaneous nephrolithotomies from January 2014 to December 2020. Study inclusion criteria were PCNL and postoperative mild or severe renal haemorrhage in accordance with the modified Clavien scoring system. Mild bleeding complications included Clavien 2, while severe bleeding complications were greater than Clavien 3a. It has a good prognosis and is more likely to be underestimated and ignored in retrospective studies in bleeding complications classified by Clavien 1, so no analysis about these was conducted in this study. Clinical features, medical comorbidities and perioperative characteristics were analysed. Chi-square, independent t tests, Pearson’s correlation, Fisher exact tests, Mann–Whitney and multivariate logistic regression were used as appropriate.

Results
Of the 2981 patients 70 (2.3%), met study inclusion criteria, consisting of 51 men and 19 women, 48 patients had severe bleeding complications. The remaining 22 patients had mild bleeding. Patients with postoperative severe bleeding complications were more likely to have no or slight degree of hydronephrosis and have no staghorn calculi on univariate analysis (p < 0.05). Staghorn calculi (OR, 95% CI, p value 0.218, 0.068–0.700, 0.010) and hydronephrosis (OR, 95% CI, p value 0.271, 0.083–0.887, 0.031) were independent predictors for severe bleeding via multivariate logistic regression analysis. Other factors, such as history of PCNL, multiple kidney stones, site of puncture calyx and mean corrected intraoperative haemoglobin drop were not related to postoperative severe bleedings.

Conclusions
The absence of staghorn calculi and a no or mild hydronephrosis were related to an increased risk of post-percutaneous nephrolithotomy severe bleeding complications.
Circulating levels of FAM19A5 are inversely associated with subclinical atherosclerosis in non-alcoholic fatty liver disease
Authors: Yari Fatemeh Ali , Shabani Parisa , Karami Sara , Sarmadi Negar , Poustchi Hossein , Bandegi Ahmad Reza 
Published: August 2021

AbstractBackgroundFamily with sequence similarity 19 (chemokine (C-C motif)-like) member A5 (FAM19A5) is a newly identified adipokine. There is a limited number of studies linking FAM19A5 to metabolic disorders. In the current study, we aimed to explore if FAM19A5 is associated with nonalcoholic fatty liver disease (NAFLD). We also sought to determine the possibility of FAM19A5 association with subclinical atherosclerosis in NAFLD patients.MethodsA total of 69 subjects including 37 NAFLD and 32 control subjects were included in this cross-sectional study. Plasma concentration of FAM19A5 was measured with the ELISA method. Carotid artery intima-media thickness (cIMT) was assessed by the ultrasonography.ResultsPlasma concentration of FAM19A5 in patients with NAFLD was significantly lower in NAFLD patients than controls. Moreover, we observed significant negative correlations between plasma level of FAM19A5 and body mass index (BMI), visceral fat, alanine amino transferase (ALT), aspartate amino transferase (AST), liver stiffness (LS), and cIMT. Following stepwise multiple linear regression analysis, ALT and cIMT were the only determinants of FAM19A5 level.ConclusionsThis is the first report to describe association of circulating FAM19A5 levels with NAFLD. Our findings provide further evidence showing relation of FAM19A5 with the risk of atherosclerosis. However, more studies are necessary to unravel the contribution of lower FAM19A5 levels to the NAFLD pathogenesis and the higher risk of atherosclerosis in these patients.
Autoimmune polyglandular syndrome type 1 with diabetes insipidus: a case report
Authors: Chen JiaQi , Lu Ting , Liu ChenXiao , Zhao Yun , Huang AiJie , Hu XingNa , Li Min , Xiang Rong , Feng Min , Lu HongHong 
Published: August 2021

Abstract
Background
Autoimmune polyendocrine syndrome type 1 (APS-1) is a rare monogenic inherited disease caused by mutations of the autoimmune regulator gene (AIRE). The three major components of this syndrome are chronic mucocutaneous candidiasis, hypoparathyroidism and adrenocortical insufficiency.

Case presentation
We report a 20-year-old male who was clinically diagnosed with APS-1 at the age of 15. He was admitted to our department this time for suffering from polyuria and polydipsia for 6 months and was finally diagnosed with diabetes insipidus. Whole-exome sequencing (WES) revealed a novel compound heterozygous mutation of the AIRE gene —the c.239 T > G (p.Val80Gly) variant on one allele and the copy number variant (CNV) of 21q22.3(chr21:45,670,150–45,706,528)*1 on the other.

Conclusions
This case suggests that diabetes insipidus is a rare component of APS-1 and expands the variety of mutations on AIRE gene.
Use of palliative radiotherapy among patients with metastatic non-small-cell lung cancer in Puerto Rico
Authors: Quiñones-Avila Valerie , Ortiz-Ortiz Karen J. , Ríos-Motta Ruth , Marín-Centeno Heriberto , Tortolero-Luna Guillermo 
Published: August 2021

Abstract
Background
Palliative radiotherapy (RT) represents an important treatment opportunity for improving the quality of life in metastatic non-small cell lung cancer (NSCLC) patients through the management of symptoms within the course of the illness. The aim of the study is to determine the proportion of patients who had palliative RT within 12 months of diagnosis and evaluate the factors associated with it.

Methods
A retrospective cohort study was performed using secondary data analysis from 2009 to 2015 from the Puerto Rico Central Cancer Registry–Health Insurance Linkage Database (PRCCR-HILD). A logistic regression model was used to examine factors associated with palliative RT.

Results
Among the 929 patients identified with metastatic NSCLC, 33.80% received palliative RT within the first year after diagnosis. After adjusting for other covariates, receipt of chemotherapy (ORAdj = 3.90; 95% CI = 2.91–5.45; P < 0.001) and presence of symptoms (ORAdj = 1.41; 95% CI =1.00–1.98; P = 0.045) were associated with increased odds of palliative RT use. Although marginally significant, patients with private health insurance had increased odds of palliative RT use (ORAdj = 1.50; 95% CI = 0.98–2.29; P = 0.061) when compared to beneficiaries of Medicaid, after adjusting by other covariates.

Conclusions
The results of this study reveal concerning underuse of palliative RT among patients with metastatic NSCLC in Puerto Rico. Additional research is necessary to further understand the barriers to using palliative RT on the island.
Addressing an HIV cure in LMIC
Authors: Ismail Sherazaan D. , Pankrac Joshua , Ndashimye Emmanuel , Prodger Jessica L. , Abrahams Melissa-Rose , Mann Jamie F. S. , Redd Andrew D. , Arts Eric J. 
Published: August 2021

AbstractHIV-1 persists in infected individuals despite years of antiretroviral therapy (ART), due to the formation of a stable and long-lived latent viral reservoir. Early ART can reduce the latent reservoir and is associated with post-treatment control in people living with HIV (PLWH). However, even in post-treatment controllers, ART cessation after a period of time inevitably results in rebound of plasma viraemia, thus lifelong treatment for viral suppression is indicated. Due to the difficulties of sustained life-long treatment in the millions of PLWH worldwide, a cure is undeniably necessary. This requires an in-depth understanding of reservoir formation and dynamics. Differences exist in treatment guidelines and accessibility to treatment as well as social stigma between low- and-middle income countries (LMICs) and high-income countries. In addition, demographic differences exist in PLWH from different geographical regions such as infecting viral subtype and host genetics, which can contribute to differences in the viral reservoir between different populations. Here, we review topics relevant to HIV-1 cure research in LMICs, with a focus on sub-Saharan Africa, the region of the world bearing the greatest burden of HIV-1. We present a summary of ART in LMICs, highlighting challenges that may be experienced in implementing a HIV-1 cure therapeutic. Furthermore, we discuss current research on the HIV-1 latent reservoir in different populations, highlighting research in LMIC and gaps in the research that may facilitate a global cure. Finally, we discuss current experimental cure strategies in the context of their potential application in LMICs.
May critical molecular cross-talk between indoleamine 2,3-dioxygenase (IDO) and arginase during human aging be targets for immunosenescence control?
Authors: da Silva Ismael Dale Cotrim Guerreiro , Marchioni Dirce Maria Lobo , Carioca Antonio Augusto Ferreira , Bueno Valquiria , Colleoni Gisele Wally Braga 
Published: August 2021

Abstract
Background
This study aimed to identify novel plasma metabolic signatures with possible clinical relevance during the aging process. A biochemical quantitative phenotyping platform, based on targeted electrospray ionization tandem mass spectrometry technology, was used for the identification of any eventual perturbed biochemical pathway by the aging process in prospectively collected peripheral blood plasma from 166 individuals representing the population of São Paulo city, Brazil.

Results
Indoleamine 2,3-dioxygenase (IDO) activity (Kyn/Trp) was significantly elevated with age, and among metabolites most associated with elevations in IDO, one of the strongest correlations was with arginase (Orn/Arg), which could also facilitate the senescence process of the immune system. Hyperactivity of IDO was also found to correlate with increased blood concentrations of medium-chain acylcarnitines, suggesting that deficiencies in beta-oxidation may also be involved in the immunosenescence process. Finally, our study provided evidence that the systemic methylation status was significantly increased and positively correlated to IDO activity.

Conclusions
In the present article, besides identifying elevated IDO activity exhibiting striking parallel association with the aging process, we additionally identified increased arginase activity as an underlying biochemical disturbance closely following elevations in IDO. Our findings support interventions to reduce IDO or arginase activities in an attempt to preserve the functionality of the immune system, including modulation of myeloid-derived suppressor cells (MDSCs), T cells, macrophages, and dendritic cells’ function, in old individuals/patients.
Orthopedic management of myelomeningocele with a multidisciplinary approach: a systematic review of the literature
Authors: Shobeiri Parnian , Presedo Ana , Karimi Amirali , Momtazmanesh Sara , Vosoughi Fardis , Nabian Mohammad Hossein 
Published: August 2021

AbstractBackgroundMyelomeningocele (MMC) is the most common and severe form of spina bifida and imposes a significant burden on patients and the healthcare system. Recently, the multidisciplinary management of MMC has become popular. Herein, we aimed to review the orthopedic management, outcomes, and complications of the of patients with MMC eyeing a multidisciplinary approach.MethodsWe searched PubMed and EMBASE to find relevant studies published before August 2020. All studies that included clinical management of MMC patients and published earlier than 2000 were considered for review on the condition that they reported at least one orthopedic intervention and the rate of complications. We excluded review articles, case reports, case series, letters, commentaries, editorials, and conference abstracts. The primary and secondary goals of our review were to report the outcomes and complication rates of multidisciplinary management for MMC patients.ResultsTwenty-six studies included data for the management of 229,791 patients with MMC and were selected. Sixteen studies reported multidisciplinary management in addition to orthopedic management. From those, 11 (42.31%) included urologic management, 13 (50%) neurosurgical management, 11 (42.31%) neurologic management, and 5 (19.23%) gastrointestinal management. All studies included postnatal operations and related management. No randomized clinical trial was found in our search.ConclusionOrthopedic approaches play a key role in MMC management by alleviating spinal deformities, particularly scoliosis, and hip, foot, and ankle complications. However, the most appropriate management, whether surgical or non-surgical, may vary for different patients, given disease severity and the age of patients.Graphical abstract
Biochemical and molecular features of Chinese patients with glutaric acidemia type 1 detected through newborn screening
Authors: Lin Yiming , Wang Wenjun , Lin Chunmei , Zheng Zhenzhu , Fu Qingliu , Peng Weilin , Chen Dongmei 
Published: August 2021

Abstract
Background
Glutaric acidemia type 1 (GA1) is a treatable disorder affecting cerebral organic acid metabolism caused by a defective glutaryl-CoA dehydrogenase (GCDH) gene. GA1 diagnosis reports following newborn screening (NBS) are scarce in the Chinese population. This study aimed to assess the acylcarnitine profiles and genetic characteristics of patients with GA1 identified through NBS.

Results

From January 2014 to September 2020, 517,484 newborns were screened by tandem mass spectrometry, 102 newborns with elevated glutarylcarnitine (C5DC) levels were called back. Thirteen patients were diagnosed with GA1, including 11 neonatal GA1 and two maternal GA1 patients. The incidence of GA1 in the Quanzhou region was estimated at 1 in 47,044 newborns. The initial NBS results showed that all but one of the patients had moderate to markedly increased C5DC levels. Notably, one neonatal patient with low free carnitine (C0) level suggest primary carnitine deficiency (PCD) but was ultimately diagnosed as GA1. Nine neonatal GA1 patients underwent urinary organic acid analyses: eight had elevated GA and 3HGA levels, and one was reported to be within the normal range. Ten distinct GCDH variants were identified. Eight were previously reported, and two were newly identified. In silico prediction tools and protein modeling analyses suggested that the newly identified variants were potentially pathogenic. The most common variant was c.1244-2 A>C, which had an allelic frequency of 54.55% (12/22), followed by c.1261G>A (p.Ala421Thr) at 9.09% (2/22).

Conclusions
Neonatal GA1 patients with increased C5DC levels can be identified through NBS. Maternal GA1 patients can also be detected using NBS due to the low C0 levels in their infants. Few neonatal GA1 patients may have atypical acylcarnitine profiles that are easy to miss during NBS; therefore, multigene panel testing should be performed in newborns with low C0 levels. This study indicates that the GCDH variant spectra were heterogeneous in this southern Chinese cohort.
Genetic syndromes screening by facial recognition technology: VGG-16 screening model construction and evaluation
Authors: Hong Dian , Zheng Ying-Yi , Xin Ying , Sun Ling , Yang Hang , Lin Min-Yin , Liu Cong , Li Bo-Ning , Zhang Zhi-Wei , Zhuang Jian , Qian Ming-Yang , Wang Shu-Shui 
Published: August 2021

Abstract
Background
Many genetic syndromes (GSs) have distinct facial dysmorphism, and facial gestalts can be used as a diagnostic tool for recognizing a syndrome. Facial recognition technology has advanced in recent years, and the screening of GSs by facial recognition technology has become feasible. This study constructed an automatic facial recognition model for the identification of children with GSs.

Results
A total of 456 frontal facial photos were collected from 228 children with GSs and 228 healthy children in Guangdong Provincial People's Hospital from Jun 2016 to Jan 2021. Only one frontal facial image was selected for each participant. The VGG-16 network (named after its proposal lab, Visual Geometry Group from Oxford University) was pretrained by transfer learning methods, and a facial recognition model based on the VGG-16 architecture was constructed. The performance of the VGG-16 model was evaluated by five-fold cross-validation. Comparison of VGG-16 model to five physicians were also performed. The VGG-16 model achieved the highest accuracy of 0.8860 ± 0.0211, specificity of 0.9124 ± 0.0308, recall of 0.8597 ± 0.0190, F1-score of 0.8829 ± 0.0215 and an area under the receiver operating characteristic curve of 0.9443 ± 0.0276 (95% confidence interval: 0.9210–0.9620) for GS screening, which was significantly higher than that achieved by human experts.

Conclusions
This study highlighted the feasibility of facial recognition technology for GSs identification. The VGG-16 recognition model can play a prominent role in GSs screening in clinical practice.