bluuebunny/crossref_metadata_2025_split huggingface dataset:
Rare Autosomal Trisomies: Important and Not So Rare
Authors: Scott Fergus , Bonifacio Michael , Sandow Rhiannon , Ellis Katie , Smet Maria-Elisabeth , McLennan Andrew 
Published: February 2019

(Abstracted from Prenatal Diagn 2018;38(10):765–771)
Noninvasive prenatal testing (NIPT) analyzes cell-free DNA (cfDNA) in maternal plasma, which is a combination of DNA from maternal cells and from placental cytotrophoblast. The technique of massively parallel sequencing (MPS) sequences and counts large numbers of unique, single-locus DNA fragments and assigns them to the chromosome of origin.
Cherchez la femme: Maternal Incidental Findings Can Explain Discordant Prenatal Cell-free DNA Sequencing Results
Authors: Bianchi Diana W. 
Published: February 2019

(Abstracted from Genet Med 2018;20:910–917)
Maternal plasma DNA sequencing has been offered as an alternative to biochemical and sonographic screening tests for fetal aneuploidy since 2011. The circulating cell-free DNA (cfDNA) fragments in the peripheral blood sample of a pregnant woman derive from 3 tissues: placenta, maternal bone marrow, and the fetus (or fetuses).
TRPA1 Sensitization Produces Hyperalgesia to Heat but not to Cold Stimuli in Human Volunteers
Authors: Weyer-Menkhoff Iris , Lötsch Jörn 
Published: February 2019

Background:
Transient receptor potential ion channels play a role in thermal hyperalgesia and are among targets of novel analgesics. However, a role of TRPA1 in either heat or cold hyperalgesia is controversial. In this study, changes in thermal sensitivity were assessed following topical application of a specific sensitizer of TRPA1 and compared with the effects of sensitizers of TRPV1 and TRPM8.

Methods:
Employing a randomized cross-over design, thermal thresholds were assessed in 16 pain-free volunteers before and at 20 minutes after topical application of cinnamaldehyde, capsaicin or menthol stimulating TRPA1, TRPV1, or TRPM8, respectively. Cold or warm detection thresholds and cold or heat pain thresholds were assessed according to the standardized quantitative sensory testing protocol proposed by the German Research Network on Neuropathic Pain.

Results:
The effects of different irritants displayed a cluster structure. Hyperalgesia was induced by capsaicin and cinnamaldehyde on heat pain thresholds and by menthol on cold pain thresholds (Cohen d=2.2035, 0.9932, and 1.256, respectively). A second cluster comprised large effects directed toward hyposensitization, such as cold hyposensitization induced by capsaicin and cinnamaldehyde, or small or absent hyposensitizing effects.

Conclusions:
The observation that the TRPA1 irritant cinnamaldehyde induced heat hyperalgesia at an effect sizes comparable with that of capsaicin attributes TRPA1 a role in human heat-induced pain. Results suggest the inclusion of heat pain as a major efficacy measure in human experimental studies of the effects of TRPA1 antagonists and the development of TRPA1 antagonists for clinical pain settings involving heat hyperalgesia.
Use of Topical Rho Kinase Inhibitors in the Treatment of Fuchs Dystrophy After Descemet Stripping Only
Authors: Macsai Marian S. , Shiloach Mira 
Published: February 2019

Purpose:
Fuchs corneal dystrophy (FD) is a common cause of endothelial keratoplasty. Recently, a series of FD cases treated with Descemet stripping only (DSO) demonstrated recovery of the central endothelium without transplantation of donor cells. Ripasudil, a rho kinase inhibitor, has been shown to promote corneal endothelial wound healing in animal models. This study prospectively evaluated the use of ripasudil in patients undergoing DSO for FD.

Methods:
Enrolled patients underwent DSO with or without cataract surgery, performed by 1 surgeon. On the first postoperative day, patients were assigned to topical ripasudil 0.4% (Glanatec) 4 times a day for 2 months or no ripasudil and followed up monthly for the first 6 months and then at 9 and 12 months after surgery. Endothelial cell density (ECD) and pachymetry were evaluated at each postoperative visit.

Results:
Eighteen patients were enrolled, including 8 women and 1 man in each group. Overall, patients who underwent DSO with ripasudil recovered vision more quickly (4.6 vs. 6.5 weeks, P < 0.01). In addition, the ripasudil group had a statistically significantly higher average ECD at 3, 6, and 12 months. The patients in the DSO observation group had a 10% decrease in peripheral ECD when comparing counts before surgery with counts 12 months after surgery (P < 0.05). In the DSO ripasudil group, there was no significant difference between peripheral ECD at preoperative baseline versus 12 months after surgery.

Conclusions:
DSO with topical rho kinase inhibitors may be an alternative treatment for patients with FD and a peripheral ECD greater than 1000 cells/mm2.
Hyper IgE syndrome associated with novel and recurrent STAT3 mutations
Authors: Deng Ying , Li Tong , Xie Xiaoqin , Xia Dengmei , Ding Li , Xiang Hongmei , Ma Jessie J. , Li Wei 
Published: February 2019

Abstract

Rationale:
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency presenting as two forms including autosomal dominant HIES (AD-HIES) and autosomal recessive HIES (AR-HIES), which are mainly caused by mutations in STAT3 and DOCK8, respectively. To date, only about 500 cases have been reported worldwide including 37 cases in China. The spectrum and prevalence of mutations and molecular pathogenesis in HIES remain poorly understood.

Patient concerns:
Here we reported two Chinese children presenting clinical manifestations of HIES.

Diagnosis:
Based on medical history, clinical manifestations, and laboratory findings, a diagnosis of HIES was made for both children. Targeted next-generation sequencing (NGS) identified a novel heterozygous deletion of 15 bp (c.1960_1974del, p.G654_D658del or alternatively c.1966_1980del, and p.G656_D660del), and a recurrent missense mutation (c.1144C>T, p.R382W) in STAT3 in the two patients, respectively.

Interventions:
The two patients have been given the successful treatment of skin infections with cefaclor.

Outcomes:
Both patients have been under follow-up for more than 6 months, with no signs of recurrent infections.

Lessons:
Our results extend the spectrum of STAT3 mutations associated with ADHIES and highlight the value of targeted NGS in confirming diagnosis of genetic disorders.
Association between carotid artery stenosis and peripheral artery disease
Authors: Jung Hyuk Jae , Lee Sang Su , Kim Hyun Yul , Park Byung Soo , Kim Dong il , Nam Kyoung Jin , Roh Ji Eun , Choo Ki Seok 
Published: February 2019

Abstract
We aimed to investigate the association between carotid artery stenosis and peripheral artery disease (PAD) by screening carotid ultrasonography (CUS).
From January 2012 to December 2015, 231 consecutive patients who had undergone preoperative CUS for PAD were included in this study. A radiologist assessed the degree of internal carotid artery (ICA) stenosis by using the North American Symptomatic Carotid Endarterectomy Trial (NASCET). Severe (>70%) ICA stenosis was evaluated based on the type of vascular surgery, PAD lesion, and ankle-brachial index (ABI). Data were analyzed using multiple logistic regression analysis and the χ
2 test.
Among 231 PAD patients, multilevel lesions revealed significantly higher incidence of severe ICA stenosis than iliac and infrainguinal lesion (22.5% vs 9.4% vs 8%: P = .016). Age (odds ratio [OR]: 1.05, 95% confidence interval [CI]: 1.00–1.12: P = .035), chronic kidney disease (CKD, OR: 6.19, 95% CI: 2.04–45.04: P = .013), and cerebral vascular disease (CVD, OR: 4.08, 95% CI: 1.13–16.46: P = .037) were significant risk factors of severe ICA stenosis in multivariate analysis. Prevalence of severe ICA stenosis according to ABI in PAD was not significant.
Preoperative screening by CUS provides valuable information onasymptomatic carotid artery stenosis (ACAS) that can identify severe ACAS patients who are at high risk of stroke and to consider more intensive management of carotid disease in PAD patients. CUS can be a useful noninvasive preoperative screening imaging tool for PAD patients with multilevel lesions, aged > 65 years old, with CKD and CVD.
Glutathione-S-transferases M1/T1 gene polymorphisms and male infertility risk in Chinese populations
Authors: Hu Chun-Yan , Lu Dong-Liang , Wu Tao , Cheng Shu-Lin , Wu Tian-tian , Wang Shu , Zhang Tao 
Published: February 2019

Abstract

Background:
A meta-analysis was applied to evaluate the associations between the glutathione-S-transferases (GSTs) M1/T1 gene polymorphisms and male infertility in Chinese populations.

Methods:
A comprehensive search for articles was conducted from PubMed, Web of Science, Embase, China biology medical literature database (CBM), China National Knowledge Infrastructure (CNKI), VIP, and Chinese literature database(Wang fang) up to April 30, 2018. All of the statistical analyses were performed using Review Manager 5.3 and Stata 14.0.

Results:
Ten studies on GSTM1 gene polymorphism involving 3302 cases and 1959 controls, and ten studies on GSTT1 gene polymorphism involving 3048 cases and 1861 controls were included in this meta-analysis. Overall, the null genotype of GSTM1/GSTT1 was significantly related to male infertility risk in Chinese populations (GSTM1, OR = 1.35, 95% CI: 1.02–1.78; GSTT1, OR = 1.40, 95% CI: 1.15–1.70). In subgroup analyses stratified by infertility type, significant association was observed between GSTT1 null genotype and male infertility in both nonobstructive azoospermia (NOA) and oligoasthenozoospermia (OAT). However, the GSTM1 null genotype was associated with OAT, but not NOA in Chinese populations. The sensitivity analysis confirmed the reliability and stability of the meta-analysis.

Conclusion:
Our meta-analysis supports that the GSTM1/GSTT1 null genotype might contribute to individual susceptibility to male infertility in Chinese populations.
Application of a combined model with seasonal autoregressive integrated moving average and support vector regression in forecasting hand-foot-mouth disease incidence in Wuhan, China
Authors: Zou Jiao-Jiao , Jiang Gao-Feng , Xie Xiao-Xu , Huang Juan , Yang Xiao-Bing 
Published: February 2019

Abstract
Hand-foot-mouth disease (HFMD) is a serious public health problem with increasing cases and substantial financial burden in China, especially in Wuhan city. Hence, there is an urgent need to construct a model to predict the incidence of HFMD that could make the prevention and control of this disease more effective.
The incidence data of HFMD of Wuhan city from January 2009 to December 2016 were used to fit a combined model with seasonal autoregressive integrated moving average (SARIMA) model and support vector regression (SVR) model. Then, the SARIMA-SVR hybrid model was constructed. Subsequently, the fitted SARIMA-SVR hybrid model was applied to obtain the fitted HFMD incidence from 2009 to 2016. Finally, the fitted SARIMA-SVR hybrid model was used to forecast the incidence of HFMD of the year 2017. To assess the validity of the model, the mean square error (MSE) and mean absolute percentage error (MAPE) between the actual values and predicted values of HFMD incidence (2017) were calculated.
From 2009 to 2017, a total of 107636 HFMD cases were reported in Wuhan City, Hubei Province, and the male-to-female ratio is 1.60:1. The age group of 0 to 5 years old accounts for 95.06% of all reported cases and scattered children made up the large proportion (accounted for 56.65%). There were 2 epidemic peaks, from April to July and September to December, respectively, with an emphasis on the former. High-prevalence areas mainly emerge in Dongxihu District, Jiangxia District, and Hongshan District. SARIMA (1,0,1)(0,0,2)[12] is the optimal model given with a minimum Akaike information criterion (AIC) (700.71), then SVR model was constructed by using the optimum parameter (C = 100000, =0.00001, =0.01). The forecasted incidences of single SARIMA model and SARIMA-SVR hybrid model from January to December 2017 match the actual data well. The single SARIMA model shows poor performance with large MSE and MAPE values in comparison to SARIMA-SVR hybrid model.
The SARIMA-SVR hybrid model in this study showed that accurate forecasting of the HFMD incidence is possible. It is a potential decision supportive tool for controlling HFMD in Wuhan, China.
Intracranial endodermal cyst presenting with nonobstructive hydrocephalus
Authors: Fujii Yoshiko , Nagaishi Masaya , Nakae Ryuta , Takigawa Tomoji , Tanaka Yoshihiro , Suzuki Kensuke 
Published: February 2019

Abstract

Rationale:
Endodermal cysts are rare benign lesions in the central nervous system. Their common symptoms include headache and neck pain caused by mass effect or inflammatory reaction. We report the case of an elderly woman with intracranial endodermal cyst who presented with nonobstructive hydrocephalus.

Patient concerns:
A 78-year-old woman presented with acute deterioration of consciousness caused by acute hydrocephalus. She subsequently underwent ventriculoperitoneal shunt placement. Eighteen months after this operation, she developed numbness of extremities and gait and progressive cognitive disturbances.

Diagnosis:
Initially, the endodermal cyst could not be recognized, but it became clinically evident in the craniocervical junction after ventriculoperitoneal shunt placement. MRI revealed multiple cystic lesions in the pontomedullary cistern. Postoperative pathology confirmed the diagnosis of endodermal cyst.

Interventions:
Subtotal resection of the cystic lesion was performed. Intra-operatively, multiple cysts containing a milky white fluid were noted and the medullary surface including the median and lateral apertures of the fourth ventricle were covered by thick, cloudy arachnoid membrane.

Outcomes:
Although the numbness of extremities improved after the surgery, she remained bedridden due to deterioration in cognitive function and generalized muscle weakness. The patient developed recurrence 2 months after the surgery; however, no additional surgery was performed owing to her poor general condition.

Lessons:
Endodermal cysts rarely present with nonobstructive hydrocephalus caused by recurrent meningitis. In such cases, the lesions are often invisible on initial diagnostic imaging, and complete resection of the lesions is typically difficult because of strong adhesion between the cyst walls and contiguous vital structures.
Metallic artifact reduction by evaluation of the additional value of iterative reconstruction algorithms in hip prosthesis computed tomography imaging
Authors: Neroladaki Angeliki , Martin Steve Philippe , Bagetakos Ilias , Botsikas Diomidis , Hamard Marion , Montet Xavier , Boudabbous Sana 
Published: February 2019

Abstract
To evaluate iterative metal artifact reduction (iMAR) technique in images data of hip prosthesis on computed tomography (CT) and the added value of advanced modeled iterative reconstruction (ADMIRE) compared with standard filtered back projection (FBP).
Twenty-eight patients addressed to CT examinations for hip prosthesis were included prospectively. Images were reconstructed with iMAR algorithm in addition to FBP and ADMIRE techniques. Measuring image noise assessed objective image quality and attenuation values with standardized region of interest (ROI) in 4 predefined anatomical structures (gluteus medius and rectus femoris muscles, inferior and anterior abdominal fat, and femoral vessels when contrast media was present). Subjective image quality was graded on a 5-point Likert scale, taking into account the size of artifacts, the metal–bone interface and the conspicuity of pelvic organs, and the diagnostic confidence.
Improvement in overall image quality was statistically significant using iMAR (P<.001) compared with ADMIRE and FBP. ADMIRE did not show any impact in image noise, attenuation value, or global quality image. iMAR showed a significant decrease in image noise in all ROIs (Hounsfield Unit) as compared with FBP and ADMIRE. Interobserver agreement was high in all reconstructions (FBP, FBP+iMAR, ADMIRE, and ADMIRE + iMAR) more than 0.8. iMAR reconstructions showed emergence of new artifacts in bone–metal interface.
iMAR algorithm allows a significant reduction of metal artifacts on CT images with unilateral or bilateral prostheses without additional value of ADMIRE. It improves the analysis of surrounding tissue but potentially generates new artifacts in bone–metal interface.
Comparison of the immunogenicity and safety of 3 inactivated hepatitis A vaccines in Korean children aged 12 to 18 months
Authors: Hong Seung Soo , Choi Ui Yoon , Ma Sang Hyuk , Lee Soo Young , Han Seung Beom , Kim Kyung-Hyo , Kang Jin Han , Kim Jong-Hyun 
Published: February 2019

Abstract
Several approved inactivated hepatitis A (HA) vaccines are available in Korea. These have been shown to be immunogenic and safe in European children; however, their immunogenicity and safety have not been investigated among Korean children. We aimed to compare the immunogenicity and safety of the most commonly used HA vaccines in ethnic Korean children aged 12 to 18 months.
In this open-label, randomized, prospective, multicenter study, 108 children were enrolled and randomized to receive a pediatric form of Avaxim, Epaxal, or Havrix. The 2nd dose was administered after an interval of 6 months. Anti-HA virus (HAV) immunoglobulin (Ig) G was measured to assess geometric mean concentrations (GMCs) and seropositvity rates (≥20 mIU/mL anti-HAV IgG). To assess safety, local solicited adverse events (AEs), systemic solicited AEs, unsolicited AEs, and serious AEs (SAEs) were graded.
Among the 108 participants enrolled, 37, 34, and 37 received Avaxim, Epaxal, and Havrix, respectively. After administration of 2 doses, the seropositivity rates in the Avaxim, Epaxal, and Havrix groups were all 100% (95% confidence intervals [CIs]: 99.0–100, 98.9–100, and 99.0–100, respectively; P < .001). The anti-HAV GMCs in the Avaxim, Epaxal, and Havrix groups were 5868.4 (95% CI: 4237.2–8126.6), 1962.1 (95% CI: 1298.0–2965.9), and 2232.9 mIU/mL (95% CI: 1428.4–3490.4), respectively, after administration of 2 doses (P < .001). There were no significant differences in the proportions of participants reporting local solicited AEs, systemic solicited AEs, unsolicited AEs, and SAEs among the 3 vaccine groups after the 1st and 2nd doses. All local solicited and unsolicited AEs were grade 1 or 2. Grade 3 systemic solicited AE occurred in 5.4% and 2.9% of the participants in the Havrix group after the 1st and 2nd doses, respectively. SAEs after the 1st and 2nd doses were reported in 2 participants and 1 participant, respectively, but none was assessed as being related to vaccination.
The results indicate that these vaccines were safe and immunogenic in ethnic Korean children. The results have contributed to the establishing of an HA vaccination policy in Korea and will be informative to countries that plan to initiate vaccination programs against HAV.
Prosthetic valve thrombosis – association of genetic polymorphisms of VKORC1, CYP2C9 and CYP4F2 genes
Authors: SR Kalpana , G Bharath , Jain Simran , Moorthy Nagaraja , Manjunath Satvic C. , Christopher Rita 
Published: February 2019

Abstract
Prosthetic Valve Thrombosis (PVT), in spite of the advances in the valve design and the material used, remains a serious complication of mechanical cardiac valve replacement. The factors influencing the development of PVT are: thrombogenicity of the valve, hemodynamics of the transprosthetic blood flow and ineffective anticoagulation. Genetic polymorphism of the genes VKORC1 (-1639 G > A and 1173 C > T), CYP2C9 (∗2 & ∗3 alleles) and CYP4F2 (1347 G > A) are known to influence the anticoagulant dose-effect response. Since there has not been any earlier study on the direct influence of gene polymorphism on the development of PVT, we investigated into this association.
Genotyping for the genes VKORC1, CYP2C9 and CYP4F2 was carried out by conventional PCR-RFLP method for 91 consecutive PVT patients. Subjects of our earlier study served as controls (n = 136).
Female patients and patients with smaller prosthetic valve size were more prone to developing PVT (68%, n = 62). Patients bearing A allele of CYP4F2 1347 G > A polymorphism exhibited a fivefold increased risk of PVT (OR = 5.022 (1.39–18.04), P = .013). G allele of VKORC1 when analyzed in combination of genotypes showed a fourteen fold increased risk for developing PVT (OR = 14.25 (5.52–36.77), P = 0.001). CYP2C9 (∗2&∗3) gene polymorphism did not show any significant association with PVT (OR = 1.54 (0.128 – 18.82), P = .731).
Patients bearing A allele of CYP4F2 showed an increased risk of developing PVT in our case – control study.
The different effects of adefovir dipivoxil and telbivudine on the prognosis of hepatitis b virus-related hepatocellular carcinoma patients after curative resection
Authors: He Linye , Xia Zijing , Shen Junyi , Zhang Xiaoyun , Peng Wei , Li Chuan , Wen Tianfu 
Published: February 2019

Abstract
Numerous studies suggested that antiviral therapy could reduce the recurrence in hepatocellular carcinoma (HCC) patients after hepatectomy. The impact of nucleotide and nucleoside analogues on prognosis of chronic hepatitis B (CHB) related HCC remains to be explored. We aimed to investigate the role of the telbivudine and adefovir dipivoxil on the prognosis of CHB-related HCC patients after hepatectomy.
One hundred eighty-eight CHB-related patients who received hepatectomy from February 2010 to February 2017 were divided into telbivudine (LdT) and adefovir dipivoxil (ADV) groups. The characteristics and survival information of both groups were retrospectively compared and analyzed.
One hundred eleven and 77 patients received telbivudine and adefovir dipivoxil monotherapy, respectively. Alanine aminotransferase (ALT), total bilirubin level, status of hepatitis B e antigen (HBeAg), serum HBV-DNA level were compared between groups. OS and DFS in ADV-treatment group were significantly better than it in LdT-treatment group (P < .05). In the subgroups analysis, we found that ADV treatment was significantly associated with better DFS and OS among patients with cirrhosis, HBeAg-negative patients, or those with detectable HBV-DNA.
CHB-related HCC patients receiving long-term ADV-treatment had a better OS and DFS than patients receiving LdT-treatment after hepatectomy.
Prognostic significance of inflammation-based indexes in patients with stage III/IV colorectal cancer after adjuvant chemoradiotherapy
Authors: Yang Jing , Guo Xinli , Wu Tong , Niu Kaifan , Ma Xuelei 
Published: February 2019

Abstract
Inflammation-based indexes such as neutrophil-to-lymphocyte ratio (NLR), platelet-to-lymphocyte ratio (PLR), lymphocyte-to-monocyte ratio (LMR), and systemic immune-inflammation indexes (SII) have been reported to be associated with prognosis in cancer patients.
The aim of this study was to estimate the prognostic significance of inflammation-based indexes such as NLR, PLR, LMR, and SII in stage III/IV colorectal cancer (CRC) patients undertaking adjuvant chemoradiotherapy (CRT).
Two hundred twenty stage III/IV CRC patients were enrolled in this study. Inflammatory indexes were defined as follows: NLR = absolute neutrophil counts/absolute lymphocyte counts; PLR = absolute platelet counts/absolute lymphocyte counts; LMR = absolute lymphocyte counts/absolute monocyte counts; SII = absolute neutrophil counts × absolute platelet counts/absolute lymphocyte counts. The correlations between indexes and prognosis were evaluated using the Cox proportional hazard model.
The results of univariate analysis demonstrated that NLR, PLR, and SII were significantly associated with progression-free survival (PFS) and overall survival (OS). Multivariate analysis showed that SII (P = .030) was an independent predictor of PFS, and NLR (P = .047) was an independent prognostic factor of OS.
Those inflammation-based indexes could provide a convenient and secure method to predict the outcomes of stage III/IV CRC patients receiving adjuvant CRT.