Synpolydactyly type 1 (SPD1, OMIM 186000) is inherited as autosomal dominant and is caused by HOXD13 mutations. The condition is rare and is known for its phenotypic heterogeneity. In the homozygous state, the phenotype is generally more severe and is characterized by three main features: a more severe degree of syndactyly, a more severe degree of brachydactyly, and the frequent loss of the normal tubular shape of the metacarpals/metatarsals. Due to the phenotypic heterogeneity and the phenotypic...
Sat May 16, 2020 09:35
Objectives. To investigate the incidence and risk factors for osteonecrosis of femoral head (ONFH) in multiple myeloma (MM) patients undergoing dexamethasone-based regimens (DBRs). Methods. A retrospective study was conducted in MM patients administered DBRs between December 2012 and April 2015. Demographic, clinical, and laboratory data were extracted to compare between two groups. Incidence of ONFH were calculated and risk factors identified by both univariate and multivariate analysis. Results....
Sat May 16, 2020 09:20
LL-37, also called cathelicidin, is an important part of the human immune system, which can resist various pathogens. A plethora of experiments have demonstrated that it has the multifunctional effects of immune regulation, in addition to antimicrobial activity. Recently, there have been increasing interest in its immune function. It was found that LL-37 can have two distinct functions in different tissues and different microenvironments. Thus, it is necessary to investigate LL-37 immune functions...
Sat May 16, 2020 09:20
Objective. The minimum clinically important difference (MCID) is a standard way of measuring clinical relevance. The objective of this work was to establish the MCID for the 6-minute walking test (6minWT) and the Gross Motor Function Measure (GMFM-88) in pediatric gait disorders. Methods. A cohort, pretest-posttest study was conducted in a hospitalized care setting. A total of 182 patients with acquired brain injury (ABI) or cerebral palsy (CP) performed 20 robot-assisted gait training sessions complemented...
Sat May 16, 2020 09:05
Nephrolithiasis is a frequent chronic urological condition with a high prevalence and recurrence rate. Proteomics studies on urolithiasis rat models are highly important in characterizing the pathophysiology of kidney stones and identifying potential approaches for preventing and treating kidney stones. The isobaric tags for relative and absolute quantification (iTRAQ) were performed to identify differentially expressed proteins (DEPs) in the kidney between urolithiasis rats and control rats. The...
Sat May 16, 2020 07:50
Cancer remains a global health challenge, with high morbidity and mortality, despite the recent advances in diagnosis and treatment. Multiple compounds assessed as novel potential anticancer drugs derive from natural sources, including microorganisms, plants, and animals. Lectins, a group of highly diverse proteins of nonimmune origin with carbohydrate-binding abilities, have been detected in virtually all kingdoms of life. These proteins can interact with free and/or cell surface oligosaccharides...
Fri May 15, 2020 18:05
Osteoporosis is a chronic disease that seriously affects human health and quality of life. This study is aimed at determining whether swimming had an effect on the bone mineral density (BMD) of the spine and femoral neck in postmenopausal and premenopausal osteoporosis patients. We retrieved relevant literature and analyzed data from randomized controlled trials to assess the effect of swimming on BMD in postmenopausal and premenopausal women. Relevant studies, with no language restrictions, from...
Fri May 15, 2020 17:50
Objectives. To investigate the predictors of telomerase reverse transcriptase (TERT) promoter mutations in adults suffered from high-grade glioma (HGG) through radiomics analysis, develop a noninvasive approach to evaluate TERT promoter mutations. Methods. 126 adult patients with HGG (88 in the training cohort and 38 in the validation cohort) were retrospectively enrolled. Totally 5064 radiomics features were, respectively, extracted from three VOIs (necrosis, enhanced, and edema) in MRI. Firstly,...
Fri May 15, 2020 17:20
Objectives. The bibliometric analysis uses the citation count of an article to measure its impact in the scientific community, yet there is still no comprehensive summary of gastric disease researches via bibliometric analysis. We aimed to evaluate the situations and trends of the most cited articles in gastric disease via bibliometric analysis and to provide physicians a practical guide in assessing the most influential articles written on this subject. Methods. The 100 top-cited articles in gastric...
Fri May 15, 2020 08:50
Objectives. To evaluate the early and midterm results of a modified sliding anastomosis technique in patients with aortic coarctation. Materials and Methods. In this study, we reported a new repair method and compared the early and midterm outcome(s) with a conventional surgical approach for the management of patients with aortic coarctation. Forty-eight aortic coarctation patients with a narrowed segment length longer than 2 cm were operated at our department’s pediatric surgical division. Excision...
Fri May 15, 2020 08:35
Introduction. Rapid eye movement sleep behavior disorder (RBD) is characterized by dream-enacting behavior (shouting, punching, and falling out of bed) related to unpleasant dreams and loss of normal rapid eye movement (REM) sleep muscle atonia. Rapid eye movement sleep enhances learning and memory by regulating neuronal synapses, and if it is undesirable, it can lead to cognitive impairment and poor academic performance and may end up with death. To the best of our searching databases, there is...
Fri May 15, 2020 08:35
Carrying a heavy school backpack has extensively been reported as a prime cause of children’s body strain. It is suggested that the load should not exceed 10 percent of the child’s body weight; however, ensuring this requires continuous monitoring. The study explores how ergonomically designed school backpack based on the user anthropometric data () and ergonomic parameters help reduce force concentration on shoulders and back. It provides a validation process of the developed prototype by experimental...
Fri May 15, 2020 08:20
Objective. Comparison of outcomes between RIRS with vacuum-assisted ureteral access sheath (V-UAS) and MPCNL in the treatment of renal stone. Materials and Methods. 28 patients with 2-4 cm renal stone were treated using RIRS with 14/16 F V-UAS. The outcomes were compared to those who underwent MPCNL with 16 F Amplatz sheath using a matched-pair analysis in a 1 : 2 scenario. Matching criteria included stone size, location and laterality, gender, age, BMI, and degree of hydronephrosis. Patients’ demographics,...
Fri May 15, 2020 08:20
Abstract We report truncating de novo variants in specific exons of FBRSL1 in three unrelated children with an overlapping syndromic phenotype with respiratory insufficiency, postnatal growth restriction, microcephaly, global developmental delay and other malformations. The function of FBRSL1 is largely unknown. Interestingly, mutations in the FBRSL1 paralogue AUTS2 lead to an intellectual disability syndrome (AUTS2 syndrome). We determined human FBRSL1 transcripts and describe...
Mon May 18, 2020 03:00
Abstract Anti-cytokine autoantibodies may cause immunodeficiency and have been recently recognized as ‘autoimmune phenocopies of primary immunodeficiencies’ and are found in particular, but not exclusively in adult patients. By blocking the cytokine’s biological function, patients with anti-cytokine autoantibodies may present with a similar clinical phenotype as the related inborn genetic disorders. So far, autoantibodies to interferon (IFN)-γ, GM-CSF, to a group of TH-17 cytokines...
Sun May 17, 2020 03:00
Publication date: Available online 17 May 2020Source: Magnetic Resonance ImagingAuthor(s): Lifeng Gao, Mingming Huang, Xiaowen Luo, Tao Song, Xuxia Wang, Zhe Wang, Wei Zhang, Jiangyuan Chen, Hao Lei
Mon May 18, 2020 23:36
Publication date: Available online 16 May 2020Source: Magnetic Resonance ImagingAuthor(s): Junchi Liu, Mehmet Kocak, Mark Supanich, Jie Deng
Sun May 17, 2020 17:03
Publication date: Available online 16 May 2020Source: Magnetic Resonance ImagingAuthor(s): Siamak Sabour
Sat May 16, 2020 16:36
Publication date: Available online 17 May 2020Source: Acta Otorrinolaringológica EspañolaAuthor(s): Débora Díaz Rodríguez, Jesús J. Benítez del Rosario, Mercedes Valido Quintana, Alberto T. Sánchez Tudela
Mon May 18, 2020 23:25
Publication date: Available online 17 May 2020Source: Acta Otorrinolaringológica EspañolaAuthor(s): Nathalia Castillo-Ledesma, Patricia Corriols-Noval, Eugenia López-Simón, Aiara Viana-Cora, Fernando Casafont-Morencos, Iranzu Ezcurra-Acedo, Carmelo Morales-Angulo
Mon May 18, 2020 23:25
Abstract Purpose Methotrexate (MTX) therapy is widely used in treatment of different types of diseases including inflammatory diseases, autoimmune disorders, and cancer. However, most of patients respond well to MTX, they suffer from multiple side effects including severe anorexia. Omega-3 fatty acid possesses many beneficial biological activities. Therefore, the objective of our study is to explore the effect of the combined modality...
Mon May 18, 2020 03:00
Abstract Purpose To evaluate the safety and effectiveness of microwave ablation (MWA) versus lobectomy for the treatment of benign thyroid nodules > 4 cm. Methods We retrospectively analyzed the data of 48 patients who underwent MWA and 53 patients who underwent lobectomy to treat benign thyroid nodules > 4 cm. The patients were followed up for...
Mon May 18, 2020 03:00
Abstract Purpose CTLA4, PTPN22, and CD40 are immune-regulatory genes strongly associated with GD, as well as PPARG, but their clinical significance in different populations is still uncertain. Methods We genotyped 282 Brazilian GD patients (234 women and 48 men, 39.80 ± 11.69 years old), including 144 patients with GO, and 308 healthy control individuals...
Sun May 17, 2020 03:00
Abstract Purpose In this study, we describe our experience with peptide receptor radionuclide therapy (PRRT) for initially unresectable liver disease as a two-steps therapeutic strategy, first in neoadjuvant intention before surgery and then later on in case of disease relapse. Methods We performed a retrospective evaluation of four cases of unresectable...
Sun May 17, 2020 03:00
Abstract Purpose Bone may regulate glucose homeostasis via uncarboxylated bioactive osteocalcin (ucOCN). This study explored whether changes in ucOCN and bone remodeling are associated with change in glucose homeostasis after biliopancreatic diversion (BPD). Methods In this secondary exploratory analysis of a 1-year prospective observational study,...
Sun May 17, 2020 03:00
Abstract Purpose To identify predictors and evaluate outcomes of posttransplant diabetes mellitus (PTDM) and to investigate the effect of treatment modalities on outcomes. Methods The database of a tertiary medical center was searched for all adult patients without prior diabetes who underwent lung, liver, or heart transplantation between January 1,...
Sat May 16, 2020 03:00
On February 21 in Codogno, a small town in Northern Italy, the first case of COVID-19 in Europe was diagnosed. By the following day, the recorded cases had risen to 80, almost all in Lombardy, and the first death had occurred. During exactly the same hours, in Milan, just a few kilometers from the coronavirus outbreak, Anthropology Day was celebrated by hundreds of people. On behalf of the University of Milan-Bicocca, we organized about 40 public events throughout the city, to display the public...
Mon May 18, 2020 22:30
When I first read that the coronavirus was gaining ground in Washington, DC, I immediately thought of the situation of my American colleague. He replied that the whole world seemed to be at an elevated alert level and that he was counting his blessings with good health and family. He added that many offices there were still functioning, although everyone was working from home. The capital city had become a ghost town with everything closed, and the following night the national emergency was extended...
Fri May 15, 2020 22:30
Abstract Objective This study aimed to understand parental decisions, perspectives, values, and beliefs on next generation sequencing in the newborn period (NGS-NBS) to inform the development of a decision aid to support parental decision making in the North Carolina Newborn Exome Sequencing for Universal Screening study. Methods We conducted dyadic...
Mon May 18, 2020 03:00
Abstract Introduction The Support. Empower. Learn. Parenting Health Initiative (SELPHI) provides expectant and parenting youth ages 16–24 in Philadelphia with supports to improve educational, social, and economic outcomes to shape their health and the health of their children. Phone, text, video-based, and social media communication technology is built in to SELPHI’s program design to facilitate case management and connect clients to...
Sat May 16, 2020 03:00
Abstract The purpose of thermal ablation is induction of tumor death by means of localized hyperthermia resulting in irreversible cellular damage. Ablative therapies are well-recognized treatment modalities for HCC lesions and are considered standard of care for HCC nodules < 3 cm in diameter in patients not suitable for surgery. Effective lesion treatment rely on complete target volume ablation. Technical limitations are represented by large (> 3 cm) or multicentric nodules...
Mon May 18, 2020 03:00
Abstract Colorectal neuroendocrine tumors (NETs) are rare neoplasms and studies on colorectal NETs are relatively few compared to other tumors. To better understand the pathogenesis of this tumor, we performed whole-genome sequencing and follow-up verification using Sanger sequencing of the colorectal NETs and paired para-tumor tissue. We analyzed the features of the gene mutation spectrum and mutation signature patterns, and analyzed the four pathways that were altered by gene...
Mon May 18, 2020 03:00
Abstract The lung cancer is the principle cause of the worldwide deaths and its prognosis is poor with a 5-year overall survival rate. Computed tomography (CT) gives many information about the prognosis, but the problem is the subject interpretation of the findings. Thanks to the computer-aided diagnosis/detection (CAD), it is possible to reduce the second opinion. “Radiomics” is an extension of CAD and overlaps the quantitative imaging data of the CT texture analysis (CTTA)...
Mon May 18, 2020 03:00
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