bluuebunny/crossref_metadata_2025_split huggingface dataset:
Phenotypic and genotypic features of a pair of Chinese identical twins with congenital insensitivity to pain and anhidrosis
Authors: Li Ningbo , Sun Jiaoli , Guo Shanna , Liu Yi , Wang Cong , Zhu Changmao , Zhang Xianwei 
Published: November 2018

Abstract

Rationale:
Congenital insensitivity to pain with anhidrosis (CIPA) is a rare autosomal recessive genetic disorder characterized by insensitivity to noxious stimulus and the absence of sweating. Fractures and joint destruction are common complications, but detailed studies on mineral and skeletal homeostasis are not available. Mental retardation is often reported, but detailed observations during childhood are lacking.

Patient concerns:
A pair of 46-month-old Chinese identical twin brothers was presented at our hospital. The brothers had the typical manifestations of insensitivity to noxious stimulus, inability to sweat, and recurrent episodes of unexplained fever. Fortunately, they did not present common complications such as self-mutilation, trauma, bruise, and repeated bone fractures.

Diagnoses:
Two novel compound heterozygous variants of NTRK1 (c.632T > A and c.1253_1254delTC) were identified.

Interventions:
The patients were subjected to routine and specialist clinical examinations. Daily care and symptomatic treatment were given.

Outcome:
X-ray films of proband 2 showed a fracture in the first metatarsal. Decreased bone mineral density (BMD) and mild-to-moderate retardation of the Gesell developmental schedules (GDS), especially language and adaptability, were observed. Evaluation results for BMD and GDS in proband 2 were worse than those in his brother.

Lessons:
The current findings expand our knowledge about the spectrum of phenotypic and genotypic features of CIPA, which will help facilitate future genotype–phenotype association studies. Daily care by parents promotes favorable outcomes in patients.
Use of argatroban for extracorporeal life support in patients with nonheparin-induced thrombocytopenia
Authors: Kim Young Su , Lee Heemoon , Yang Ji-Hyuk , Sung Kiick , Suh Gee Young , Chung Chi Ryang , Yang Jeong Hoon , Cho Yang Hyun 
Published: November 2018

Abstract
Unfractionated heparin (UFH) is currently the standard anticoagulant used in extracorporeal life support (ECLS). However, severe thrombocytopenia occurs frequently during ECLS use and it may be difficult to determine whether this represents heparin-induced thrombocytopenia (HIT) or not. In this case, UFH cannot be continued. Because a confirmatory laboratory test requires time, argatroban is empirically used if HIT is suspected. However, many patients are not found to have HIT. In non-HIT patients, the effectiveness and safety of argatroban are unclear. Thus, we investigated whether argatroban was safe and useful in patients who were suspected of having HIT and were started on argatroban, but were ultimately found to have non-HIT.
We retrospectively reviewed all patients on ECLS who received the anticoagulant argatroban as an alternative to UFH between January 2014 and July 2015. The pretest clinical score (4Ts) was calculated, and a score greater than 4 was considered an indication for argatroban. The target-activated clotting time or activated partial thromboplastin time was 1.5 times the patient's upper normal value. Of 191 patients on ECLS during the study period, 10 (5.2%) were treated with argatroban infusion.
No patients were found to have antiplatelet factor 4/heparin antibodies. The average maintenance dose of argatroban was 0.1 μg/kg/min. Platelet counts increased significantly following argatroban administration (P = .02). There were no anticoagulation-related complications such as bleeding or thrombosis.
Our results suggest that argatroban is a safe alternative to UFH for patients with non-HIT on ECLS. Argatroban may have a more significant platelet-preserving effect than UFH, regardless of whether HIT is present.
Coexistence of anti-HMGCR and anti-MDA5 identified by an unlabeled immunoprecipitation assay in a chinese patient cohort with myositis
Authors: Huang Li , Wang Li , Yang Yang , Chen Huan , Liu Yanjuan , Liu Ke , Liu Meidong , Xiao Yizhi , Zuo Xiaoxia , Li Yisha , Luo Hui , Zhang Huali , Xiao Xianzhong 
Published: November 2018

Abstract
Myositis-specific autoantibodies are important diagnostic and prognostic markers. The aim of our study is to detect anti-3-hydroxy 3-methylutaryl coenzyme A reductase (anti-HMGCR) antibody using novel unlabeled immunoprecipitation (IP) assay and immunoblotting in Chinese patients with myositis and to clarify the features of anti-HMGCR-positive patients. In the present study, we established novel unlabeled IP assay and immunoblotting of HMGCR C-terminus for anti-HMGCR detection. The presence of anti-HMGCR was screened in 181 Chinese patients with myositis. The sera from 12 of 181 patients were positive for anti-HMGCR. The prevalence of anti-HMGCR autoantibody in our cohorts is about 6.6%. Unexpected, coexistence of anti-HMGCR and anti-melanoma differentiation-associated protein (anti-MDA5) were identified in 4 patients with characteristic rash and interstitial lung disease (ILD), but without myasthenia and elevated serum creatine kinase (CK) levels. Other anti-HMGCR positive patients without anti-MDA5 presented with severe proximal muscle weakness. Mean serum CK levels and lactate dehydrogenase (LDH) were significantly higher in anti-HMGCR-positive patients than in antibody-negative patients (P <.05). Muscle biopsies available from 6 anti-HMGCR-positive patients were characterized with prominent myofiber necrosis and regeneration, little or none of inflammatory cell infiltrates. None of anti-HMGCR positive patients in our cohort was exposed to statins. Our data suggested that anti-HMGCR were found to coexist frequently with anti-MDA5 identified by the established unlabeled IP assay and statin exposure is rare in Chinese myositis patients with anti-HMGCR.
Association of muscle strength with cardiovascular risk in Korean adults
Authors: Lee Mee-Ri , Jung Sung Min , Kim Hwa Sung , Kim Yong Bae 
Published: November 2018

Abstract
There are few existing studies that examine the association between muscle strength and cardiovascular disease (CVD) risk stratified by sex. Evaluation of the handgrip strength is a simple, quick, and inexpensive method to measure muscle strength. This study assessed the association of handgrip strength with the risk of CVD in the Korean general population.
Data were derived from a subset of an ongoing nationally representative survey: the Korea National Health and Nutrition Examination Survey (KNHANES), 2014 to 2016, which included 8576 participants aged 40 to 79 years (men: 3807; women: 4769). Individual CVD risk was evaluated by calculating the atherosclerotic cardiovascular disease (ASCVD) risk score and the Framingham risk score (FRS) in subjects aged 40 to 79 years without prior CVD.
Multivariate linear regression analysis revealed a significant inverse association (in both men and women) between relative handgrip strength and cardiovascular risk factors, including blood pressure, levels of fasting glucose and triglycerides, waist circumstance, FRS, high sensitivity C-reactive protein levels, and ASCVD risk. A significant positive association between relative handgrip and a low level of high density cholesterol levels in both men and women was identified. In both men and women, subjects in the lowest quartile of handgrip strength had an increased risk of CVD compared with those within the highest quartile (odds ratio range 2.05–3.03).
The results of this study suggest that increased handgrip is associated with a lower degree of cardiovascular risk in both men and women. Longitudinal studies are needed to examine the association between muscle strength and cardiovascular risk.
Syphilis prevalence and risk factors among young men presenting to the Brazilian Army in 2016
Authors: da Motta Leonardo Rapone , Sperhacke Rosa Dea , Adami Aline de Gregori , Kato Sérgio Kakuta , Vanni Andréa Cristina , Paganella Machline Paim , de Oliveira Maria Cristina Pimenta , Giozza Silvana Pereira , da Cunha Alessandro Ricardo Caruso , Pereira Gerson Fernando Mendes , Benzaken Adele Schwartz 
Published: November 2018

Abstract
The Conscripts Survey has been conducted periodically by the Brazilian Department of Sexually Transmitted Infections (STIs), AIDS, and Viral Hepatitis (DIAHV) in collaboration with the Brazilian Ministry of Defense for over 2 decades. It aims to assess the syphilis prevalence and obtain data on knowledge regarding STIs and their risk factors among conscripts enlisted for the Brazilian Army.
This cross-sectional study was conducted among conscripts across Brazil aged 17 to 22 years from August to December 2016. It included a self-reported questionnaire and blood testing for syphilis, HIV, and hepatitis B and C.
In total 38,247 conscripts were enrolled; after exclusion due to a lack of information, 37,282 (93.2%) conscripts were included. The estimated syphilis prevalence rates were: 1.63%, 1.09%, and 0.62% for screened, confirmed, and active syphilis, respectively. Among those with active syphilis, 81.1% reported not having syphilis infection in their lifetime. Higher confirmed syphilis prevalence rates were observed in the South region, followed by North and Southeast regions. Independent factors associated with confirmed syphilis infection were: self-reported STIs in one's lifetime (odds ratio [OR] = 7.24; P < .001), same-sex sexual relationships (OR = 3.43; P = .001), and having the 1st sexual intercourse encounter before 15 years of age (OR = 2.62; P = .04). The proportion of conscripts who reported having sex with other men (MSM) was 4.3%, and the estimated syphilis prevalence in this group was 5.23%, 4.61%, and 3.60% for screened, confirmed, and active syphilis, respectively. The sexual behaviors most frequently associated with confirmed syphilis were: sexual relationship with casual partners in the last year (P < .001), same-sex sexual relationships (P < .001), more than 10 partners (P = .006), and having sexual intercourse before 15 years of age (P = .003). Although not significant, only 25.4% of the conscripts who had a confirmed syphilis reported the use of condoms with steady partners, 32.4% with casual partner, and 24.3% with any partner.
We found that syphilis is on the rise among the young Brazilian male population. The increase in its prevalence, particularly among MSM, highlights the need for urgent public health interventions, action plans, and implementation of risk reduction strategies aimed at this population.
Prevalence of the fabella and its association with pain in the posterolateral corner of the knee
Authors: Pop Tudor Sorin , Pop Anca Maria , Olah Peter , Trâmbiţaş Cristian 
Published: November 2018

AbstractThe functions and clinical consequences of the fabella, a sesamoid bone found in the posterolateral aspect of the knee joint, are still a reason of intense debate in the scientific literature. Its incidence was reported to range between 20% and 87% and its presence was usually associated with the persistent pain in the posterolateral region of the knee. The aim of our study was to measure the prevalence, anatomic and clinical features of the fabella within a cross-sectional study, conducted in a Romanian orthopaedic center. Between 2015 and 2017, a consecutive series of 562 patients with knee injuries or persistent knee pain has been examined by radiographs and Magnetic Resonance Imaging and a set of anatomical and clinical parameters have been recorded. Collected data was evaluated with RadiANT DICOM Viewer and statistically analyzed with GraphPad Prism 7. The level of significance was set atP <.05. The incidence of the fabella in our study group was 16.93%, lower than previously reported for Caucasian populations. We found statistically significant differences regarding the possible association of the fabella with pain in the posterolateral corner of the knee (P = .04) and the 2 dimensions of the bone according to gender (P = .03 respectivelyP = .01), but the prevalence was not influenced by gender (P = .6). The anatomic characteristics could be important in differentiating this sesamoid bone from calcifications or loose bodies located in the knee joint region. Due to the high association with the posterolateral knee pain, the fabella should be recorded during knee examination as a differential diagnosis, before any surgical procedure.
The role of serum procalcitonin in the differential diagnosis of pneumonia from pulmonary edema among the patients with pulmonary infiltrates on chest radiography
Authors: Yoon Young Kyung , Kim Min Ja , Yang Kyung Sook , Ham Soo-Youn 
Published: November 2018

Abstract
The aim of this study is to evaluate the usefulness of serum procalcitonin (PCT) as a diagnostic biomarker for distinguishing pneumonia from pulmonary edema in patients presenting with pulmonary infiltrates on chest radiography.
A comparative study was performed retrospectively in a university-affiliated hospital, from May, 2013 to April, 2015. Adult patients (≥18 years) who showed pulmonary infiltrates on chest radiography and had blood tests with C-reactive protein (CRP), erythrocyte sedimentation rate (ESR), PCT, and N-terminal pro-b-type natriuretic peptide (NT-proBNP) on admission were included in the study. Clinical parameters collected on admission were compared between the case group (n = 143) with pneumonia and the control group (n = 88) with pulmonary edema alone.
During the study period, a total of 1217 patients were identified. Of them, a total of 231 patients were included in analyses based on exclusion criteria. In the multivariate logistic regression analysis, PCT ≥0.25 ng/mL, ESR ≥35 mm/h, CRP ≥18 mg/L, NT-proBNP ≤200 pg/mL, underlying neurologic diseases, fever, sputum, absence of cardiomegaly, and a low Charlson comorbidity index were independently associated with pneumonia. For this model, the sensitivity, specificity, positive predictive value, and negative predictive value in distinguishing between the 2 groups were 90.2%, 79.6%, 87.8%, and 83.3%, respectively, with an area under the curve of 0.93.
This study suggests that the practical use of PCT in conjunction with clinical data can be valuable in the differential diagnosis of pulmonary infiltrates and guidance for clinicians to prevent antibiotic misuse.
Comparative Effectiveness and Safety of Rivaroxaban in Adults With Nonvalvular Atrial Fibrillation
Authors: Aronow Wilbert S. , Shamliyan Tatyana A. 
Published: November 2018

Background:
All evidence regarding benefits and harms of rivaroxaban for stroke prevention has not been appraised yet.

Study Question:
What are the comparative effectiveness and safety of rivaroxaban in adults with nonvalvular atrial fibrillation?

Data Sources:
Randomized controlled trials (RCTs), meta-analyses, and observational studies were identified in several databases in October 2018.

Study Design:
Rapid review with evidence appraisal using the Grading of Recommendations Assessment, Development and Evaluation working group approach.

Results:
Two direct RCTs (23,021 patients) suggest that rivaroxaban is noninferior to warfarin in the prevention of stroke and systemic embolism (pooled relative risk [RR] 0.73, 95% confidence interval [CI], 0.43–1.24), reduces risk of hemorrhagic stroke (RR 0.59, 95% CI, 0.38–0.92), fatal bleeding (RR 0.49, 95% CI, 0.31–0.76), and cardiac arrest (RR 0.45, 95% CI, 0.25–0.82, 2 RCTs), but increases risk of major gastrointestinal bleeding (RR 1.46, 95% CI, 1.19–1.78). In observational studies, rivaroxaban is associated with lower risk of ischemic stroke (RR 0.87, 95% CI, 0.77–0.99, 222,750 patients), acute myocardial infarction (RR 0.61, 95% CI, 0.48–0.78, 73,739 patients), and intracranial hemorrhage (RR 0.64, 95% CI, 0.45–0.92, 197,506 patients) but higher risk of gastrointestinal bleeding (RR 1.30, 95% CI, 1.19–1.42, 188,968 patients) and higher risk of mortality when compared with warfarin in European studies (RR 1.19, 103,270 patients in the UK; RR 2.02, 22,358 patients in Denmark) but lower risk of mortality in Taiwan (RR 0.58, 40,000 patients). Network meta-analyses and observational studies suggest that rivaroxaban is associated with higher risk of bleeding when compared with apixaban (RR 2.14, 72,586 patients), dabigatran (RR 1.24, 67,102 patients), and edoxaban (RR 1.32, 71,683 patients).

Conclusions:
Research on the long-term comparative effectiveness, safety, and effects on quality of life between rivaroxaban and other novel oral anticoagulants is urgently needed.
Prevalence and Risk Factors for Arterial Hypertension Development in Childhood Acute Lymphoblastic Leukemia Survivors
Authors: Ociepa Tomasz , Bartnik Magdalena , Zielezińska Karolina , Urasiński Tomasz 
Published: November 2018

Background:
Childhood acute lymphoblastic leukemia (ALL) survivors are at an increased risk of cardiovascular disease including arterial hypertension (AH). The objectives of this study were to assess the prevalence of AH using 24-hour ambulatory blood pressure monitoring, explore characteristics of AH, and define risk factors for the development of AH in childhood ALL survivors.

Patients and Methods:
The study comprised 81 childhood ALL survivors (5 to 25 y of age) after a median follow-up time of 5 years. The control group consisted of 52 healthy children (5 to 17 y of age) without any known severe or chronic medical condition. Ambulatory blood pressure monitoring was performed in all patients and controls. Serum lipids were measured in all patients and controls.

Results:
ALL survivors were more likely to have AH than controls (odds ratio, 2.47; 95% confidence interval, 1.08-5.63; P=0.0315). The mean time from ALL diagnosis until diagnosis of AH was 5.1±2.97 years. Day-time diastolic SDS and day-time mean arterial pressure SDS were significantly higher in ALL cohort compared with the controls (−0.3±1.43 vs. −0.76±0.95; P=0.04 and 1.44±1.64 vs. 0.92±1.03; P=0.047). Childhood ALL survivors with AH were more likely to be systolic extreme dippers and reverse systolic/diastolic dippers compared with those with normal blood pressure (P<0.05). There was no association of AH with leukemia subtype, leukemia risk group, sex, central nervous system irradiation, and obesity.

Conclusions:
The prevalence of AH in childhood ALL survivors may be as high as 37%. We recommend regular monitoring of blood pressure in childhood ALL survivors early in the follow-up.
Increasing Syphilis Diagnoses Among Females Giving Birth in US Hospitals, 2010–2014
Authors: Aslam Maria V. , Owusu-Edusei Kwame , Kidd Sarah E. , Torrone Elizabeth A. , Dietz Patricia M. 
Published: November 2018

Background
National trends in syphilis rates among females delivering newborns are not well characterized. We assessed 2010–2014 trends in syphilis diagnoses documented on discharge records and associated factors among females who have given birth in US hospitals.

Methods
We calculated quarterly trends in syphilis rates (per 100,000 deliveries) by using International Classification of Diseases, Ninth Revision, Clinical Modification codes on delivery discharge records from the National Inpatient Sample. Changes in trends were determined by using Joinpoint software. We estimated relative risks (RR) to assess the association of syphilis diagnoses with race/ethnicity, age, insurance status, household income, and census region.

Results
Overall, estimated syphilis rates decreased during 2010–2012 at 1.0% per quarter (P < 0.001) and increased afterward at 1.8% (P < 0.001). The syphilis rate increase was statistically significant across all sociodemographic groups and all US regions, with substantial increases identified among whites (35.2% per quarter; P < 0.001) and Medicaid recipients (15.1%; P < 0.001). In 2014, the risk of syphilis diagnosis was greater among blacks (RR, 13.02; 95% confidence interval [CI], 9.46–17.92) or Hispanics (RR, 4.53; 95% CI, 3.19–6.42), compared with whites; Medicaid recipients (RR, 4.63; 95% CI, 3.38–6.33) or uninsured persons (RR, 2.84; 95% CI, 1.74–4.63), compared with privately insured patients; females with the lowest household income (RR, 5.32; 95% CI, 3.55–7.97), compared with the highest income; and females in the South (RR, 2.42; 95% CI, 1.66–3.53), compared with the West.

Conclusions
Increasing syphilis rates among pregnant females of all backgrounds reinforce the importance of prenatal screening and treatment.
Three-Dimensional Printing Technology Combined With Postmortem Computed Tomography Angiography as New Form of Forensic Evidence
Authors: Wang Zhuoqun , Wan Lei , Shao Yu , Zou Donghua , Liu Ningguo , Chen Yijiu 
Published: November 2018

Abstract
Postmortem computed tomography (PMCT) and PMCT angiography are increasingly used in forensic practice. However, their application in court is still limited because they need professional equipment or software to be displayed. In this article, the authors introduce 3-dimensional (3D) printing technology as a new approach to provide evidence in court. A 67-year-old woman suffered from severe sick sinus syndrome, and she was fitted with a ventricular demand inhibited pacemaker. The operation failed as the doctor accidentally perforated her heart with an electrode wire. Her heart stopped beating, and she died after the operation. Targeted PMCT with pulmonary artery angiography was performed after the body was dissected, and a model of the heart was reconstructed using 3D printing technology, with different colored materials. The results confirmed by the autopsy suggested that the victim had died of cardiac rupture. The apex close to the right margin of the heart showed a tiny cleft where the contrast agent was flowing out. The heart model was an effective way to interpret this medical injury. This 3D printing technology, combined with PMCT angiography, provides a convenient, efficient tool for identifying the cause of death. It could become a powerful form of court evidence in the future.
Mismatch in Spouses' Anger-Coping Response Styles and Risk of Early Mortality: A 32-Year Follow-Up Study
Authors: Bourassa Kyle J. , Sbarra David A. , Ruiz John M. , Karciroti Niko , Harburg Ernest 
Published: November 2018

ABSTRACT

Objective
Research in psychosomatic medicine includes a long history of studying how responses to anger-provoking situations are associated with health. In the context of a marriage, spouses may differ in their anger-coping response style. Where one person may express anger in response to unfair, aggressive interpersonal interactions, his/her partner may instead suppress anger. Discordant response styles within couples may lead to increased relational conflict, which, in turn, may undermine long-term health. The current study sought to examine the association between spouses' anger-coping response styles and mortality status 32 years later.

Methods
The present study used data from a subsample of married couples (N = 192) drawn from the Life Change Event Study to create an actor-partner interdependence model.

Results
Neither husbands' nor wives' response styles predicted their own or their partners' mortality. Wives' anger-coping response style, however, significantly moderated the association of husbands' response style on mortality risk 32 years later, β = −0.18, −0.35 to −0.01, p = .039. Similarly, husbands' response style significantly moderated the association of wives' response style and their later mortality, β = −0.24, −0.38 to −0.10, p < .001. These effects were such that the greater the mismatch between spouses' anger-coping response style, the greater the risk of early death.

Conclusions
For a three-decade follow-up, husbands and wives were at greater risk of early death when their anger-coping response styles differed. Degree of mismatch between spouses' response styles may be an important long-term predictor of spouses' early mortality risk.