bluuebunny/crossref_metadata_2025_split huggingface dataset:
Relationship between SCN5A gene H558R polymorphism and atrial fibrillation in Tibetan and Han nationalities at high altitude
Authors: Liu Jiang , Yao Fengcai , Han Kaiyue , Chai Jinping , Tian Dekuan , Zhang Jinwei , Wang Rong , Li Wei , Shen Yanmei , Ma Yuanfeng , Geng Sang , Su Xiaoling 
Published: March 2021

Abstract
This study aimed to explore the relationship between H558R polymorphism of the SCN5A gene and atrial fibrillation (AF) in Tibetan and Han nationalities at high altitude.
A total of 50 Tibetan and 50 Han patients with AF at the same altitude (2260 m) were included. Meanwhile, the general clinical data of patients without AF (50 Tibetan and 50 Han) matched with the data of patients with AF were included during the same period. The blood samples of patients were collected to extract DNA. The DNA sequencing was performed by Xi’an Zhenpin Biotechnology Co., Ltd. The mutation loci of the sequence were located and identified by DNA sequencing. The general information, laboratory examination, color Doppler echocardiography, and genotypes and alleles of each group were analyzed. The multivariate logistic regression analysis was used to determine the independent risk factors for AF.
The genotype and allele frequencies of the H558R locus of the SCN5A gene in the AF groups of Tibetan and Han nationalities were significantly different from those in the non-AF groups (P < .05). The genotype and allele frequency of the H558R locus of the SCN5A gene in the AF group of Tibetan nationalities were not significantly different from those in the AF group of Han nationalities (P > .05). The logistic regression analysis of the total population revealed that coronary heart disease, age, total cholesterol (TC), left atrial diameter, and G allele were independent risk factors for AF occurrence.
The occurrence of AF in Tibetan and Han nationalities at high altitude is associated with the polymorphism of H558R locus of the SCN5A gene. The G allele is an independent risk factor for the occurrence of AF in Tibetan and Han nationalities.
Little needle-scalpel for piriformis syndrome
Authors: Zhu Qingyuan , Zhu Siyuan , Xiong Jun , Lu Lunbin , Chen Jun , Zhong Zhiying , Tang Genhua 
Published: March 2021

Abstract

Background:
Piriformis syndrome (PS) is a condition in which the sciatic nerve is compressed when passing through the inferior mouth of the piriformis muscle, mainly caused by pain in one hip and leg. In severe cases, patients may experience severe buttock and lower limb pain, discomfort, difficulty walking, and claudication. It is estimated that the annual incidence of low back pain and sciatica is about 40 million cases, and the annual incidence of piriformis syndrome is about 2.4 million cases. The aim of this systematic review is to assess the effectiveness and safety of Little needle-scalpel therapy for Piriformis syndrome.

Methods:
Two reviewers will electronically search the following databases: the Cochrane Central Register of Controlled Trials (CENTRAL); PubMed; EMBASE; China National Knowledge Infrastructure (CNKI); Chinese Biomedical Literature Database (CBM); Chinese Scientific Journal Database (VIP database); and Wan-Fang Database from the inception, without restriction of publication status and languages. Additional searching including researches in progress, the reference lists, and the citation lists of identified publications. Study selection, data extraction, and assessment of study quality will be performed independently by 2 reviewers. If it is appropriate for a meta-analysis, RevMan 5.4 statistical software will be used; otherwise, a descriptive analysis will be conducted. Data will be synthesized by either the fixed-effects or random-effects model according to a heterogeneity test. The results will be presented as risk ratio (RR) with 95% confidence intervals (CIs) for dichotomous data and weight mean difference (WMD) or standard mean difference (SMD) 95% CIs for continuous data.

Results:
This study will provide a comprehensive review of the available evidence for the treatment of Little needle-scalpel with piriformis syndrome.

Conclusions:
The conclusions of our study will provide an evidence to judge whether Little needle-scalpel is an effective and safe intervention for patients with piriformis syndrome.

Ethics and dissemination:
This systematic review will be disseminated in a peer-reviewed journal or presented at relevant conferences. It is not necessary for a formal ethical approval because the data are not individualized.

Trial registration number:
INPLASY2020110092.
Psychosis in a primary hyperparathyroidism patient with mild hypercalcemia
Authors: Otsuki Koji , Izuhara Muneto , Miura Shoko , Yamashita Satoko , Nagahama Michiharu , Hayashida Maiko , Hashioka Sadayuki , Miyaoka Tsuyoshi , Hotta Yukie , Shimizu Yasuhiko , Inagaki Masatoshi 
Published: March 2021

Abstract

Introduction:
Primary hyperparathyroidism (PHPT) is characterized by hypercalcemia and an elevated level of serum parathyroid hormone (PTH). PHPT presents with a complex set of renal, skeletal, and neuropsychological symptoms. Parathyroidectomy (PTX) is a radical treatment that is recommended for all physically symptomatic patients with PHPT. However, psychiatric symptoms are not considered as an indication for surgery. There remains an important issue from the view of perioperative management of whether PTX should be performed with the presence of uncontrolled psychiatric symptoms or deferred until severe psychiatric symptoms have been controlled. We report a case of mild hypercalcemia that caused severe psychosis in PHPT, which improved dramatically following PTX and resulted in successful postoperative management.

Patient concern:
Our patient was a 68-year-old Japanese woman. She was diagnosed with PHPT, which was triggered by mild hypercalcemia. She was due to receive an operation for osteoporosis and kidney stones. She had severe psychosis, despite medication. Blood examinations revealed mild hypercalcemia (10.4 mg/dL, 8.8–10.1 mg/dL) and elevated serum levels of intact PTH (184.0 pg/mL, 10–65 pg/mL).

Diagnosis:
She was diagnosed with severe psychosis caused by mild hypercalcemia in PHPT.

Interventions:
Although she was treated with 37.5 mg quetiapine and 2 mg risperidone daily, she was excessively sedated and rejected oral treatment. Therefore, we decided to perform the operation.

Outcomes:
Immediately following surgery, serum levels of calcium, and intact PTH were normalized. Her psychotic symptoms ceased completely 5 days after surgery.

Conclusion:
We emphasize that PHPT presents with various severe psychiatric symptoms, even in mild hypercalcemia. Psychiatric symptoms may be the only salient symptoms in PHPT, and thus clinicians should suspect PHPT in patients with psychiatric symptoms and mild hypercalcemia. Furthermore, PTX is recommended for PHPT—even in the presence of severe uncontrolled psychiatric symptoms, which carries risks for postoperative management—because psychiatric symptoms are expected to improve and good postoperative management is possible.
Effectiveness and safety of massage in the treatment of obesity
Authors: Jin Mengke , Jiao Lin , Li Jun , Zhu Daocheng , Xu Wei , Zhong Genping , Cao Zhiwen , Liu Xuefang 
Published: March 2021

Abstract

Background:
Obesity has become one of the largest chronic diseases in the world. It is a chronic metabolic disease caused by various factors. In recent years, massage has been used more and more widely in the treatment of obesity diseases. However, the effectiveness and safety of massage in the treatment of adult obesity are still unclear. The purpose of this study is to evaluate the effectiveness and safety of massage in the treatment of adult obesity.

Methods:
We will conduct a comprehensive review in Medline, PubMed, Cochrane System Evaluation Database, embbase, Chinese Biomedical Literature Database, China National Knowledge Infrastructure, Wang Fang Database, Chinese Science Journal Database. There is no language restriction for the literature search from its establishment to February 2021. In addition, we will manually search for references to unpublished studies and originally included articles. Reviewers will identify the research, extract the data, and independently assess the quality. Results of interest include: total effective rate; total nasal symptom score; rhinitis quality-of-life questionnaire; visual analog scale; laboratory test indicators: IgE, IL6, IL10, or TNF-α levels; recurrence rate; adverse events. Randomized clinical trials will be collected, the Cochrane bias risk assessment tool will be used to assess methodological quality, and recommendations, evaluation, development, and evaluation methods will be used to assess the level of evidence. The meta-analysis will be performed using RevMan 5.4.0 software. A heterogeneity test will be conducted between studies, and P <.1 and I2> 50% are the thresholds for testing. According to the degree of heterogeneity, we will use a fixed effects model or a random effects model.

Results:
The results of this study will provide sufficient evidence to judge whether massage is an effective and safe treatment for adult obesity.

Conclusions:
This study will provide evidence to determine whether massage is an effective intervention for Adult obesity. The research results will also be published in a peer-reviewed journal.

INPLASY registration number:
INPLASY 202120061
Moxibustion therapy for treating psoriasis vulgaris
Authors: Zou Jiahua , Huang Gang , Hu Chuxiang , Yan Juan , Zhang Feiyan , Shi Haiyong , Yuan Xian , Fu Jiajun , Gong Liping 
Published: March 2021

Abstract

Background:
Psoriasis vulgaris (PV) is an immune-mediated skin disease, which has seriously affected the quality of life of patients. At present, moxibustion therapy has been widely used in the treatment of PV. The purpose of this study is to provide high-quality evidence-based medicine to evaluate the effectiveness and safety of moxibustion for PV.

Methods:
We will search the following Electronic databases from their inceptions to February 2021 without any language limitation: PubMed, Embase, Cochrane Library, China National Knowledge Infrastructure, WangFang Database, Chinese Science Journal Database, Chinese Biomedical Literature Database. What's more, the grey literature and the references of all included literature will also be retrieved manually. Any clinical randomized controlled trials (RCTs) related to moxibustion therapy for PV will be taken into. In order to complete data synthesis and assess the risk of bias, we will use the RevMan V.5.3 software.

Results:
This systematic review will provide an assessment of the current state of moxibustion for PV, aiming to assess the efficacy and safety of moxibustion for patients with PV.

Conclusion:
This systematic review will establish convincing evidence to prove the effectiveness and safety of moxibustion for PV.

INPLASY registration number:
INPLASY202120008.
Remarkable response to anti-PD1 immunotherapy in refractory metastatic high-grade myxofibrosarcoma patient
Authors: Luo Yi , Min Li , Zhou Yong , Tang Fan , Lu Minxun , Xie Hongmei , Wang Yitian , Duan Hong , Zhang Wenli , Tu Chongqi 
Published: March 2021

Abstract

Introduction:
Myxofibrosarcoma (MFS) is a locally aggressive tumor and has the potential to be fatal because of distant metastasis. Immunotherapy targeting either programmed cell death protein 1 (PD-1) or programmed death ligand 1 (PD-L1) has recently shown a curative effect on multiple cancers including melanoma, non-small cell lung cancer, and renal cell carcinoma. Although the immunotherapy has been applied in sarcoma, there is little information about the efficiency to treat metastatic MFS.

Patient concerns:
A 42-year-old male presented to the clinic with a mass in the left thigh. Mass resection and ligament replacement surgery were performed.

Diagnoses:
The patient was diagnosed as high-grade MFS (federation nationale des centres de lutte contre le cancer, Grade 3) with pulmonary metastasis.

Interventions:
In the past few years, he was treated with surgery, chemoradiotherapy, and Anlotinib (an angiogenesis inhibitor), but the metastatic lesion continued to progress. About 40% to 50% of tumor cells in his pulmonary tissues were showed positive PD-L1 expression and his tumor mutational burden was 215Muts. Thus, he received Camrelizumab (PD-1 inhibitor).

Outcomes:
Six months after the initiating immunotherapy of Camrelizumab, the size of pulmonary lesions showed marked shrinkage, indicating a partial response. After a follow-up of 18 months, the patient remained in good condition without progressive disease.

Conclusion:
This case described here demonstrated that immunotherapy of PD-1 inhibitor is a promising treatment option for refractory MFS with PD-L1 positive or tumor mutational burden -high, which could contribute to effective tumor response.
Xiaochaihu decoction for nonalcoholic fatty liver disease
Authors: Zhu Wenyu , Luo Huan , Xiong Min , Shen Tao 
Published: March 2021

Abstract

Background:
Nonalcoholic fatty liver disease (NAFLD) is a clinicopathologic syndrome characterized by excessive deposition of fat in hepatocytes except for alcohol and other specific hepatic factors. Xiaochaihu decoction (XD) has been widely used to treat NAFLD in China. However, there is no systematic review found. In order to evaluate the efficacy and safety of XD in the treatment of NAFLS, we need to conduct a meta-analysis and systematic evaluation.

Methods:
There are enrolled randomized controlled trials (RCTs) evaluating the effectiveness and safety of XD in the treatment of NAFLD. Data come mainly from 4 Chinese databases (CNKI, CBM, Wanfang, and VIP Database) and 4 English databases (Pubmed, Embase, Cochrane Library, and Web of science). The enrollment of RCTs is from the starting date of database establishment till September 30, 2021. The work such as selection of literature, data collection, quality evaluation of included literature, and assessment of publication bias will be conducted by 2 independent researchers. Meta-analysis will be performed by RevMan 5.0 software.

Results:
This study will provide high-quality evidence for the effectiveness and safety of XD in the treatment of NAFLD.

Conclusion:
The results of the study will help us determine whether XD can effectively treat NAFLD.

Ethics and dissemination:
This study does not require ethical approval. We will disseminate our findings by publishing results in a peer-reviewed journal.

OSF registration number:
DOI 10.17605/OSF.IO/A5XEM
Clinical outcomes in 21-hydroxylase deficiency
Authors: Nordenström Anna , Lajic Svetlana , Falhammar Henrik 
Published: March 2021

Purpose of review
The introduction of synthetic glucocorticoids 70 years ago made survival possible in classic 21-hydroxylase deficiency (21OHD). The currently used glucocorticoid therapy may lead to unphysiological dosing with negative consequencies on health in addition to the problems that may arise due to androgen over-exposure.

Recent findings
Fertility in females with 21OHD seemed to be impaired, especially in the salt-wasting (SW) phenotype but when pregnancies did occur there was a higher risk for gestational diabetes and cesearean section. Increased fat mass, body mass index, insulin resistance and frequency of autoimmune disorders as well as impaired echocardiographic parameters and lower bone mineral density were found in 21OHD compared to controls. Negative effects on cognitive functions have been identified. Adrenal tumors, especially myelolipomas, were prevalent. Increased knowledge on steroid metabolism in 21OHD and urine steroid profiling may improve assessment of treatment efficacy. Nevanimibe, abiraterone acetate and anastrozole may have a place in the future management of 21OHD. Long-acting glucocorticoids may be a less favorable, especially dexamethasone.

Summary
The various clinical outcomes need regular monitoring. Negative consequencies are to large extent the result of the unphysiological glucocorticoid replacement. Modern management with improved follow-up and future addition of new drugs may improve outcomes.
Approach to large adrenal tumors
Authors: Ambroziak Urszula 
Published: March 2021

Purpose of review
To summarize the data concerning approach to large adrenal tumors (LAT's), since recent guidelines published in 2016 recommend individual approach rather than clear size cut-off of a tumor that should be removed.

Recent findings
Although the risk of malignancy clearly correlates with the size of a lesion, tumor size of more than 4 cm in diameter represents only 31–61% specificity for the diagnosis of malignant tumor. Therefore, the risk of malignancy and decision about surgery should not be based only on the size of a tumor but assessed in terms of imaging studies, growth pattern during follow-up and new tool that is urine/serum steroid metabolomics.

Summary
Approach to patients with LAT's should be individualized. Patients with LAT's should be managed by an expert multidisciplinary team, that includes an endocrinologist, a radiologist, a pathologist, and an adrenal surgeon.
Long-term real-life efficacy and safety of infliximab and adalimumab in the treatment of inflammatory bowel diseases outpatients
Authors: Tursi Antonio , Mocci Giammarco , Lorenzetti Roberto , Allegretta Leonardo , Brandimarte Giovanni , Cassieri Claudio , Colucci Raffaele , De Medici Antonio , Faggiani Roberto , Ferronato Antonio , Fiorella Serafina , Forti Giacomo , Franceschi Marilisa , Gallina Sara , Giorgetti GianMarco , Grasso Giuseppina , Larussa Tiziana , Luzza Francesco , Penna Antonio , Pica Roberta , Piergallini Simona , Porciello Sarah , Pranzo Giuseppe , Rodino’ Stefano , Scorza Stefano , Sebkova Ladislava , Zampaletta Costantino , Elisei Walter , Picchio Marcello 
Published: March 2021

Background
Infliximab and adalimumab are widely used for the treatment of Crohn’s disease and ulcerative colitis.

Aim
To compare the long-term efficacy and safety of infliximab and adalimumab in a large cohort of Crohn’s disease and ulcerative colitis patients reflecting real-life clinical practice.

Methods
Seven hundred twelve patients were retrospectively reviewed, 410 with Crohn’s disease (268 treated with adalimumab and 142 with infliximab; median follow-up 60 months, range, 36–72) and 302 with ulcerative colitis (118 treated with adalimumab and 184 with infliximab; median follow-up 48 months, range, 36–84).

Results
In Crohn’s disease, clinical remission was maintained in 75.0% of adalimumab vs. in 72.5% of infliximab patients (P = 0.699); mucosal healing and steroid-free remission were maintained in 49.5% of adalimumab vs. 63.9% of infliximab patients (P = 0.077) and in 77.7% of adalimumab vs. 77.3% in infliximab group (P = 0.957), respectively. In ulcerative colitis, clinical remission was maintained in 50.0% of adalimumab vs. 65.8% of infliximab patients (P < 0.000); mucosal healing and steroid-free remission were maintained in 80.6% of adalimumab vs. 77.0% of infliximab patients (P = 0.494) and in 90.2% of adalimumab vs. 87.5% of infliximab patients (P = 0.662), respectively. At the multivariate analysis, ileocolonic location and simple endoscopic score for Crohn’s disease >10 were predictors of failure in Crohn’s disease; treatment with adalimumab, BMI ≥30 and Mayo score >10 were predictors of failure in ulcerative colitis. infliximab was more likely to cause adverse events than adalimumab (16.6 vs. 6.2%, P < 0.000).

Conclusion
Both adalimumab and infliximab are effective in long-term outpatients management of inflammatory bowel diseases. Adalimumab had a lower rate of adverse events.
The prognostic value of P-wave dispersion and left atrial functions assessed with three-dimensional echocardiography in patients with cirrhosis
Authors: Ozersari Sevil , Ünal Bariş , Kemal Çabuk Ali , Eren Hazir Kutluhan , Çağri Şimşek Ersin , Ekmekci Cenk , Küçükukur Murat , Betül Paköz Zehra , Günay Süleyman , Sari Cenk 
Published: March 2021

Background
Cirrhotic cardiomyopathy (CCM) is a well-known entity. The aim of this study was to compare left atrial three-dimensional (3D) volume and P-wave dispersion (PWd) in patients with cirrhosis and a healthy population. The secondary purpose was to assess the left phasic volumes and reservoir functions with 3D echocardiography for the prediction of an increased risk of poor outcomes in patients with cirrhosis.

Methods
The study included 50 patients with cirrhosis and 43 healthy control subjects without atrial fibrillation. All patients were assessed with two-dimensional (2D), 3D, and tissue Doppler transthoracic echocardiography. The PWd was calculated using a 12-lead surface electrocardiogram (ECG). Cirrhotic patients were followed up for 2.5 years for the evaluation of poor outcomes and the development of atrial fibrillation.

Results
Patients with cirrhosis were observed to have significantly higher left atrial phasic volumes such as minimal left atrial volume (3D-LAVmin, P = 0.004) and indexed LAVmin (3D-LAVImin, P = 0.0001), and significantly decreased left atrial reservoir functions such as left atrial emptying volume (3D-LAEV, P = 0,001), left atrial ejection fraction (3D-LAEF, P = 0,001) on 3D echocardiography. PWd was determined to be significantly longer in the cirrhotic group compared with the control group (P = 0.003). In the 2.5-year follow-up period, poor outcomes occurred in 34 patients (22 patients died, six patients had liver transplantation, six patients developed atrial fibrillation/AHRE episodes). In Cox regression analysis, the MELD score (HR, 1.16 (1.06–1.26), P = 0.001) and 3D-LAVImin (HR, 0.95 (0.86–1.00), P = 0.040) were significantly associated with all-cause mortality. Cirrhotic patients with LAVImin of >15 ml/m2 were seen to have poor survival (long rank P = 0.033).

Conclusion
The results of this study showed that patients with cirrhosis had higher left atrial volume, longer PWd and worse diastolic functions compared with the control group. Higher disease severity scores were associated with left atrial function and volume. In addition, left atrial volume measured with 3DE was a strong predictor of future adverse events, and minimal left atrial volumes had a higher prognostic value than any other left atrial function indices.
Perioperative therapy in renal cancer in the era of immune checkpoint inhibitor therapy
Authors: Kuusk Teele , Abu-Ghanem Yasmin , Mumtaz Faiz , Powles Thomas , Bex Axel 
Published: March 2021

Purpose of review
Immune checkpoint inhibitor (ICI) combination therapy has revolutionized therapy of metastatic renal cancer. The success of immunotherapy has renewed an interest to study these agents in adjuvant and neoadjuvant settings and prior to cytoreductive nephrectomy. This narrative review will give an overview of ongoing trials and early translational research outcomes.

Recent findings
In nonmetastatic renal cell carcinoma (RCC), five phase 3 adjuvant and neoadjuvant trials with ICI monotherapy or combinations are ongoing with atezolizumab (IMmotion 010; NCT03024996), pembrolizumab (KEYNOTE-564; NCT03142334), nivolumab (PROSPER; NCT03055013), nivolumab with or without ipilimumab (CheckMate 914; NCT03138512) and durvalumab with or without tremelimumab (RAMPART; NCT03288532). Phase 1b/2 neoadjuvant trials demonstrate safety, efficacy and dynamic changes of immune infiltrates and provide rationales for neoadjuvant trial concepts as well as prediction of response to therapy. In primary metastatic RCC, two phase 3 trials investigate the role of deferred cytoreductive nephrectomy following pretreatment with ICI combination (NORDICSUN; NCT03977571 and PROBE; NCT04510597).

Summary
The outcomes of the major phase 3 trials are awaited as early as 2023. Meanwhile, translational data from phase 1b/2 studies enhance our understanding of the tumour immune microenvironment and its dynamic changes.