tbuckley/cabot-search huggingface dataset:
Real-World data (RWD) of physician’s advice on BRCA genetic testing for ovary (OC) and breast cancer (BC) patients (pts).
Authors: Daniel A. Vorobiof
Journal: Journal of Clinical Oncology (2020)

e19357 Background: The 2019 US Preventive Services Task Force (USPSTF) recommends that women with a personal and familiar history of BC and OC undergo a BRCA genetic testing so that risk assessment, prevention options and treatment changes are considered. Methods: BC and OC members of Belong.life global mobile application for cancer pts and caregivers, replied to a 9 question's survey regarding the incidence of BRCA testing. The survey included questions on demographics, BRCA testing performed, who advised it, and on treatment changes. This RWD was analyzed by data scientists using AI and machine learning engines. Results: 377 pts with BC (302/80%) and OC (75/20%) replied to the survey. BC pts ages were &lt; 50 yrs in 32%, 36% were 51-60 yrs and 32% &gt; 61 yrs. 24% of OC pts were &lt; 50 yrs, 35% were 51-60 yrs and 41% &gt; 61 yrs. 73% of BC pts were USA based and 27% from rest of the world (RoW). OC pts were 62% from USA and 38% from RoW. Most of BC pts were stage 1-2 (58%) and 35% stages 3-4. OC pts stages were 3-4 (73%) and 15% stage 1-2. BRCA testing was performed in 192/302 BC pts (64%). In the OC group 60/75 pts (80%) had BRCA testing. Physicians advised to have BRCA testing to 57% of BC pts and 76% of OC, while families/friends suggested it to 4% of BC and OC pts. BRCA test was positive in 19% of BC and 48% of OC pts. 110 BC pts(36%) didn’t undergo the test of whom 74 pts (67%) didn’t receive physician’s advice to have it . Of those pts, 24 (32%) fell under the USPSTF recommendation criteria for testing. Conclusions: BRCA testing should be recommended for all pts with recently diagnosed BC and OC and in those with a higher chance of having a mutation, as defined by the USPSTF guidelines. In this RWD evaluation of Belong.life BC and OC pts, BRCA testing in BC was done in 192/302 pts (64%) while in OC pts it was done in 60/75 pts (80%). Overall, physicians requested the BRCA test in only 57% of BC pts and 76% of the OC pts. In spite of the current USPSTF guidelines, a number of BC pts who didn’t receive advise from their physician (32%) fell under those recommendations, most having their disease diagnosed at &lt; 50 yrs and triple negative disease &lt; 60 yrs. Physicians should be encouraged to follow published guidelines recommendations for BRCA testing for all newly diagnosed BC and OC pts.
胜利油田石油职工皮肤病调查
Authors: 孙莉, 颜敏, 李瑞芝, 卞金铃, 连海燕
Journal: BMJ (2008)

为了解石油职工皮肤病的发病规律及石油产业生产环境致皮肤病的危险因素,胜利油田中心医院皮肤科于2006年至2008年对胜利油田石油行业11个作业现场12 064名石油职工进行了皮肤病健康查体.
Hierarchical system and two-way referral model for eye diseases management in community health service center
Authors: Min Zhu, Xiaowei Tong, Yi Zhang, Xieyi Zhang, Huimin Dai, Jie Liu, Yuan Cheng, Zhaohui Du
Journal: BMJ (2018)

A two-way referral system for eye diseases management was developed between the Weifang community health service centers and Shanghai eye hospital in May 2014. With the peer-to-peer two-way referral model, the physicians in community health service center and ophthalmologists in eye hospital were directly responsible for screening, diagnosis and treatment of patients. The specialists of eye hospital also regularly provided clinic service in the center for longitudinal management of the patients. The peer-to-peer two-way referral model played a positive role in enhancing the cooperation between community health service center and superior hospital, upgrading skills of general practitioners, and improving the residents′ satisfaction.


Key words: 
Community health service; Hierarchical medical system; Two-way referral
2型糖尿病合并高血压老年患者的社区综合干预观察
Authors: 顾梅榴, 朱秀国, 徐先锋, 陈冬辉, 金智敏, 张文, 刘鸿翔
Journal: BMJ (2012)

对2型糖尿病合并高血压老年患者采取“五驾马车”的干预措施,以便更有效地改善血糖及血压水平.结果提示社区综合干预是促进2型糖尿病合并高血压老年患者得到有效防治的理想手段,值得在社区内积极开展与推广。
Dysfunction of the ciliary ARMC9/TOGARAM1 protein module causes Joubert syndrome
Authors: Brooke L. Latour, Julie C. Van De Weghe, Tamara D.S. Rusterholz, Stef J.F. Letteboer, Arianna Gomez, Ranad Shaheen, Matthias Gesemann, Arezou Karamzade, Mostafa Asadollahi, Miguel Barroso-Gil, Manali Chitre, Megan E. Grout, Jeroen van Reeuwijk, Sylvia E.C. van Beersum, Caitlin V. Miller, Jennifer C. Dempsey, Heba Morsy, Michael J. Bamshad, Deborah A. Nickerson, Stephan C.F. Neuhauss, Karsten Boldt, Marius Ueffing, Mohammad Keramatipour, John A. Sayer, Fowzan S. Alkuraya, Ruxandra Bachmann-Gagescu, Ronald Roepman, Dan Doherty
Journal: Journal of Clinical Investigation (2020)

Joubert syndrome (JBTS) is a recessive neurodevelopmental ciliopathy characterized by a pathognomonic hindbrain malformation. All known JBTS genes encode proteins involved in the structure or function of primary cilia, ubiquitous antenna-like organelles essential for cellular signal transduction. Here, we used the recently identified JBTS-associated protein armadillo repeat motif–containing 9 (ARMC9) in tandem-affinity purification and yeast 2-hybrid screens to identify a ciliary module whose dysfunction underlies JBTS. In addition to the known JBTS-associated proteins CEP104 and CSPP1, we identified coiled-coil domain containing 66 (CCDC66) and TOG array regulator of axonemal microtubules 1 (TOGARAM1) as ARMC9 interaction partners. We found that TOGARAM1 variants cause JBTS and disrupt TOGARAM1 interaction with ARMC9. Using a combination of protein interaction analyses, characterization of patient-derived fibroblasts, and analysis of CRISPR/Cas9-engineered zebrafish and hTERT-RPE1 cells, we demonstrated that dysfunction of ARMC9 or TOGARAM1 resulted in short cilia with decreased axonemal acetylation and polyglutamylation, but relatively intact transition zone function. Aberrant serum-induced ciliary resorption and cold-induced depolymerization in ARMC9 and TOGARAM1 patient cell lines suggest a role for this new JBTS-associated protein module in ciliary stability.
Patient-reported distress and healthcare utilization in patients with advanced cancer.
Authors: Jordan Danielle Hildenbrand, Heesu Park, David Casarett, Alicia Ellis, Kris Herring, Arif Kamal, Steve Power, Jesse D Troy, Steven Wolf, Yousuf Zafar, Thomas William LeBlanc
Journal: Journal of Clinical Oncology (2020)

12093 Background: The National Comprehensive Cancer Network (NCCN) defines distress as an unpleasant, multidimensional experience that may interfere with patient behavior, emotions, and ability to cope with illness. Distress screening is a critical aspect of comprehensive cancer treatment, but the relationship between patient-reported distress and healthcare utilization remains unclear. We assessed this relationship in patients with advanced cancers historically associated with high utilization, specifically non-small cell lung cancer (NSCLC) and non-colorectal gastrointestinal (NCRGI) cancer. Methods: We extracted data from the electronic medical record of adult patients with metastatic NSCLC and NCRGI cancers who were receiving active treatment, visited outpatient Duke Cancer Institute clinics between July 2013 and January 2017, and completed at least two self-report NCCN Distress Thermometer (DT) and Problem List (PL) surveys as part of routine clinical care between July 2013 and March 2019. Mixed effects logistic regression was used to estimate the odds of hospitalization or emergency room (ER) visit within either 3 or 6 months after each self-reported DT, with adjustment for age at first distress score, sex, primary tumor site, race (white vs. non-white) and duration of participation (i.e., time from first distress score to 3 months after the last distress score) information from the EMR. Results: A total of 11,027 DT scores were collected from 848 patients, with 508 (60%) having NSCLC, 340 (40%) having NCRGI cancer, and 192 (23%) reporting actionable distress (i.e., DT score ≥4). Actionable distress was associated with higher odds of hospitalization or visiting the ER within 3 months (OR = 1.37; 95% CI = 1.19, 1.58; p &lt; 0.001) and 6 months (OR = 1.19; 95% CI = 1.03, 1.37; p = 0.019) after DT self-report. Patients who had an average DT score of ≥4 were more likely to report the following problems at least once: worry (89% of patients), nervousness (79%), fatigue (95%), pain (92%), sleep problems (79%), and eating problems (79%). Conclusions: Patient-reported distress is associated with greater healthcare utilization in patients with advanced NSCLC and NCRGI cancers who are receiving active treatment. These patients report high burden of physical and emotional problems. Actionable distress may be a useful indicator of patients in need of specialist palliative care interventions.
Real-world use of liposomal irinotecan-based regimens among patients (pts) with metastatic pancreatic adenocarcinoma (mPDAC) in the United States (U.S.).
Authors: George P. Kim, Paul Cockrum, Andy Surinach, Jim M. Koeller
Journal: Journal of Clinical Oncology (2020)

e16740 Background: The goals of randomized control trials (RCTs) are to make causal inferences and precise treatment comparisons, not to describe large heterogeneous pt populations. RWE allows population-based healthcare decision makers to assess and manage therapeutic and economic options for their pts, including those who would and would not have met inclusion/exclusion criteria of a given RCT and are instead managed under usual care, irrespective of clinical trial protocols. In the pivotal phase 3 trial, NAPOLI-1, 117 pts were treated with liposomal irinotecan + 5-fluorouracil/folinic acid, median age 63 years; 66% were treated first- (1L) or second line (2L), and 91% had performance score ECOG 0 or 1. Pts in the trial had overall survival (OS) of 6.2 months (mos), time to treatment failure (TTF) 2.3 mos, and 27% experienced grades 3-4 neutropenia. The present study describes the patient characteristics and outcomes of pts with mPDAC treated with liposomal irinotecan in the US. Methods: This retrospective observational study used data from Flatiron Health EHR-derived de-identified database from over 280 cancer clinics. Patient characteristics, OS, TTF, and rates of neutropenia during treatment (tx) were assessed in adult pts diagnosed with mPDAC who received liposomal irinotecan based tx between November 1, 2015 and October 31, 2019. Results: 600 pts with mPDAC treated with a liposomal irinotecan based regimen were identified. Of these, 56% were initially diagnosed with stage IV disease, 53% were male, 21% had undergone a previous Whipple procedure, and 61% initiated liposomal irinotecan in the 1L or 2L metastatic setting. Median age at tx initiation was 68 (IQR: 62 – 75) years. 92% of pts were treated in the community setting. Among pts with available ECOG (n = 440), 77.5% were score 0-1. Grade 3/4 neutropenia was observed in 11% (n = 66). Overall, median OS was 5.0 mos [95%CI: 4.2–5.6]. mOS among pts treated in 1L (n = 88), 2L (n = 280), and third line plus (3L+, n = 232) were 6.9 mos [5.3–9.2], 5.4 mos [4.6–6.4], and 4.0 mos [3.4–4.5], respectively. Overall, median TTF was 1.9 mos [1.6–2.1]. TTF by line was 3.5 mos [2.3–4.8] in 1L, 2.1 mos [1.7–2.8] in 2L, and 1.4 mos [1.2–1.6] in 3L. Conclusions: This real-world cohort of pts with mPDAC were older, had worse performance status, and had more prior lines compared to the pivotal trial for liposomal irinotecan. Median OS, TTF, and neutropenia were similar to those previously reported. As expected, pts receiving liposomal irinotecan in earlier lines had higher median OS and TTF.
Association between low dietary zinc and hyperuricaemia in middle-aged and older males in China: a cross-sectional study
Authors: 谢东兴, 熊依林, 曾超, 魏捷, 杨拓, 李辉, 王伊伦, 高曙光, 李宇晟, 雷光华
Journal: BMJ (2016)

目的
探究膳食锌摄入和高尿酸血症的相关性。


设计
横断面研究。


研究地点
中国湖南省的一家体检管理中心。研究人群共纳入5 168例中老年（40岁及以上）研究对象（2 697例男性和2 471例女性）。


结局指标
利用经过验证的半定量食物频率调查表来评价膳食锌摄入水平。高尿酸血症定义为男性血尿酸值≥ 416 μmol/L，女性≥360 μmol/L。


结果
高尿酸血症在男性人群中的患病率为22.9%，通过校正年龄、体质指数和能量摄入，和最低组相比，不同膳食锌摄入水平组高尿酸血症的危险度(OR)分别是0.68 [95％可信区间(CI) 0.45~ 0.92], 0.63 (95% CI 0.45~ 0.89), 0.68 (95% CI 0.46~ 1.00), 0.55 (95% CI 0.35~ 0.87) (P= 0.03)。在女性人群中，高尿酸血症的患病率是10.0%，未校正以及最低校正和多因素校正的OR值均表明膳食锌摄入和高血尿酸血症之间无显著相关性。


结论
本研究表明膳食锌摄入水平和高尿酸血症在中老年男性中呈负相关，但这种负相关性在女性中并不成立。在男性人群中，这种负相关性在校正年龄、体质指数和能量摄入以及维生素C摄入、乙醇摄入以及营养补充剂摄入等后依然成立。
The impact of home hospice care on patients with hematologic disorder in Taiwana population-based cohort study.
Authors: Yuehshih Chang, Chien-Hong Lai, Cheng-Hsu Wang
Journal: Journal of Clinical Oncology (2020)

e19304 Background: The aim of the study is to examine the effect of home hospice care on quality of end-of-life (EOL) care for patients with hematologic malignancies in Taiwan between 2002 and 2011 by using the Taiwanese National Health Insurance Research Database. Methods: We enrolled patients with hematologic malignancies and lung cancer from the Longitudinal Cohort of Diabetes Patients database. For realizing the impact of home hospice care, those patients were divided into two groups, inpatient hospice care and home hospice care. Results: In Taiwan, 18.44 % patients with hematologic malignancies received hospice care and the ratio was similar with patients with lung cancer. Among those patients, 28.64% patient were able to receive home hospice care. The mean probability of survival was longer in the home-hospice group. Considering those indicators for the quality of hospice, blood transfusion and antibiotic use were significantly more frequent in the home hospice group. But the total cost for the last month for home hospice group was cheaper than inpatient hospice group. Conclusions: Hospice care for patients with hematologic disorder still need improvement. Receiving home hospice care in Taiwan did not decrease the survival life so to enroll the suitable patients for home hospice care are reasonable.
Liquid biopsy: Safety and efficacy in a tool for molecular profiling of advanced non-small cell lung cancer (NSCLC).
Authors: Saleha Rizwan, Zachary Otaibi, Herman Lo, Talal Khan, Rodney E. Wegner, Gene Grant Finley
Journal: Journal of Clinical Oncology (2020)

e21506 Background: Non-small cell lung cancer (NSCLC) is the most common type of lung cancer with a broad spectrum of targeted therapies already available or in clinical trials. Among the NSCLC patients, 23% to 25% harbor a mutation in a gene associated with approved or emerging targeted therapy. These therapies have changed the therapeutic landscape of NSCLC with significantly improved clinical outcomes in advanced metastatic NSCLC patients. It is imperative to test for these gene alterations in order to identify patients who could potentially benefit from these efficacious targeted therapies and to avoid therapies unlikely to provide clinical benefit. A major limitation in obtaining molecular testing occurs when minimally invasive techniques are used to obtain tissue sample resulting in insufficient yield for testing. In such cases, the utilization of circulating tumor DNA (ctDNA), commonly known as liquid biopsy, has proven very beneficial. In a study utilizing ctDNA, increased detection rates were found when using ctDNA in addition to tissue testing and a &gt; 98.2% concordance rate was found. We report results of 40 NSCLC patients from our institute who had liquid biopsy with or without tissue profiling done. Methods: We molecularly profiled 40 newly diagnosed advanced NSCLC patients using both tissue and liquid biopsies. Tissue was assayed using the John Hopkins university molecular panel and liquid biopsies were performed by Biocept. Results: 14 out of 40 (35%) patients had insufficient or no tissue for molecular testing. Concordant results were found in 17 out of the 26 (65.4%) patients who had both tissue and liquid molecular testing done. Liquid Biopsy detected additional mutations in 5 (19.2%) patients which were not picked up on tissue and led to change in management in 4 patients. 12 out of 40 (30%) patients had repeat liquid biopsies done at progression of disease with new mutations detected on 4 patients revealing resistance to current treatment and change in treatment. Conclusions: Liquid Biopsy reveals high concordance rates with tissue genotyping and increases rate of detection of targetable mutations in NSCLC. It offers a safe and effective alternative when additional tissue is needed to identify genetic mutations.
Treatment compliance and uric acid control rate in patients with primary gout
Authors: Juan Meng, Xiaoxu Yuan, Xin Ming
Journal: BMJ (2018)

Objective
To investigate the treatment compliance and uric acid control rate in patients with primary gout.


Methods
One hundred primary gout patients with disease duration >6 months treated in our hospital from June 2015 to June 2016 were enrolled in the study. The treatment compliance and disease control rate were evaluated with revised Chinese Compliance Questionnaire-Rheumatology (CCQR).


Results
Eighty four valid questionnaires was recovered for analysis. Among 84 patients there were 46 cases of high compliance(54.8%)and 38 cases of poor compliance(45.2%). The CCQR score in high compliance group was significantly higher than that in poor compliance group (73.48±15.62 vs. 48.37±10.96, t=8.352, P 0.05). The duration of gout was shorter in high compliance group than that in low compliance group [(6.12±1.79)y vs. (13.24±4.56)y, P<0.001]. The uric acid control rate in high compliance group was higher than that in poor compliance group (76.1% vs. 36.8%, χ2=13.186, P=0.000 3); and the serum uric acid levels were(369.82±35.67)μmol/L and (497.46±63.49)μmol/L in two groups, respectively(t=11.606, P<0.001).


Conclusion
It is necessary to strengthen health education for gout patients to improve the treatment compliance and to achieve the high uric acid control rate.


Key words: 
Gout; Patient compliance; Questionnaires
Prevalence of infections with soil-borne intestinal nematodes amongst kindergarten children in Hangzhou
Authors: 叶环, 张丽慧, 张仁, 杨军, 马杭霖, 童丽娜, 丰青龙, 杜庆华, 叶小君, 蔡莹彦, 朱银芳, 张启龙, 颜振兴
Journal: BMJ (2007)

目的 了解杭州市不同等级幼儿园儿童常见土源线虫感染的状况,为确定重点防治对象提供依据.方法 按杭州市长轴线的分布(东部-中部-西部),随机抽取甲、乙、丙不同等级幼儿园14所,调查了1667名学龄前儿童.对每个被调查的儿童用透明胶纸肛拭法检查蛲虫卵,对每一份新鲜粪便同时用生理盐水直接涂片法和饱和盐水浮聚法检查蛔虫卵、钩虫卵、鞭虫卵;同时给每个儿童发放问卷调查表.结果 1667名受检者中,常见的土源线虫感染人数为216人(12.96%),其中蛲虫感染率为4.44%,蛔虫8.28%,鞭虫0.54%,钩虫0.24%.甲级幼儿园肠道线虫总感染率为7.31%,乙级为12.60%,丙级为21.47%,不同级别幼儿园肠道线虫总感染率差异有统计学意义(P＜0.001).结论 杭州市幼儿园儿童常见土源线虫总感染率为12.96%;寄生虫感染率高低与幼儿园等级相关;环境和卫生设施等较差的丙级幼儿园将是寄生虫防治的重点对象。
Level of plasma homocysteine in patients with herpes zoster
Authors: Shenghua Li, Yufei Tan, Qingke Cao, Wenhao Yin, Hongxing Zou
Journal: BMJ (2015)

The plasma levels of homocysteine (Hcy), vitamin B12 and folic acid were measured in a total of 101 patients with herpes zoster (observation group) before treatment and 100 healthy controls (control group). And the plasma level of Hcy was also measured in observation group after treatment. There was a significant increase of Hcy level in observation group versus control group (P 0.05). The occurrence rate of hyperhomocysteinemia and the level of Hcy differed in age group, onset site and pain severity (P 0.05). The level of Hcy significantly decreased after treatment versus before treatment (P<0.01). Plasma Hcy significantly increased in patients with herpes zoster. And it was correlated with age, lesion extent and pain severity. However, there was no correlation with gender, onset site or levels of vitamin B12 and folic acid.

Key words: 
Herpes zoster; Homocysteine; Vitamin B12
Contribution of DNA damage repair gene mutations and concomitant TP53 variations to the efficacy of platinum-based chemotherapy as initial therapeutic option in Chinese NSCLC patients.
Authors: Ke Ma, Jun Peng, Huachuan Zhang, Jintao He, Bo Xiao, Jiang Zhu, Changbin Zhu, Hao Rong
Journal: Journal of Clinical Oncology (2020)

e21002 Background: Though targeted, immune-, even combinational therapies have been applied widely, platinum-based chemotherapy still plays irreplaceable role as initial management for patient with either resected or advanced NSCLC without actionable target. Platinum is sought to increase DNA damage burden inducing cell death, especially in cells with intrinsic DNA damage repair (DDR) dysfunction. This study aims to explore impact of DDR genes as well as co-occurrence of TP53 mutations on prognosis of NSCLC patients. Methods: 110 NSCLC patients were consecutively recruited from 2016-2018. 508 cancer related genes were sequenced by BGI-seq 500. COX regression was used to evaluate risk of disease progression as well as cancer-related death among patients with various DDR/TP53 status. Results: 61 NSCLC patients with stage II-IV (median age of onset: 55 years) were recruited who received platinum-based therapy as adjuvant or 1 st line systemic therapy. Till 15 th .Oct.2019, median follow-up time was 24 months. 21 patients (34.4% of 61) carried DDR mutations. TP53 mutations were detected in 36 patients (59% of 61). 11 patients (18% of 61) displayed TP53/DDR co-mutations. COX regression analysis indicated NSCLC patients with DDR mutation would have lower risk of disease progression (HR:0.37, P = 0.19) as well as superior overall survival time (HR:0.35, P = 0.035). Patients with DDR co-mutations had no superior survival benefit. Patients with HRR mutations presented similar result. Patients with TP53 mutations had similar risk as ones with other mutations. While those with DDR concomitant mutations showed significantly improved clinical benefit (HR for PFS:0.28, P = 0.05; HR for OS:0.22, P = 0.023). Conclusions: DNA damage repair genes in Chinese NSCLC patients may play vital roles in predicting efficacy of platinum-based chemotherapy even in the context of TP53 co-mutation. Further, combination of BRCA2 and PALB2 may be better associated with patients’ prognosis. Large cohort should be set up to validate this finding in near future. [Table: see text]