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https://www.readbyqxmd.com/read/28431466/next-generation-sequencing-reveals-one-novel-missense-mutation-in-col1a2-gene-in-an-iranian-family-with-osteogenesis-imperfecta
#1
Farah Talebi, Farideh Ghanbari Mardasi, Mohammadi Asl Javad, Bavarsad Amir Hooshang, Salehi Kambo Masoumeh
BAckground: Osteogenesis imperfecta (OI) is a clinically and genetically heterogeneous disorder characterized by bone loss and bone fragility. The aim of this study was to investigate the variants of three genes involved in the pathogenesis of OI. Methods: Molecular genetic analyses were performed for COL1A1, COL1A2, and CRTAP genes in an Iranian family with OI. The DNA samples were analyzed by next-generation sequencing (NGS) gene panel and Sanger sequencing. Results: Five different variants were identified in COL1A1 and COL1A2, including two variants in COL1A1 and three variants in COL1A2...
April 22, 2017: Iranian Biomedical Journal
https://www.readbyqxmd.com/read/28431461/impact-of-superparamagnetic-iron-oxide-nanoparticles-on-vocal-fold-fibroblasts-cell-behavior-and-cellular-iron-kinetics
#2
Marina Pöttler, Anna Fliedner, Eveline Schreiber, Christina Janko, Ralf Philipp Friedrich, Christopher Bohr, Michael Döllinger, Christoph Alexiou, Stephan Dürr
PURPOSE: The voice is the most important instrument of communication. Tissue defects in the vocal fold (VF) area lead to serious reduction in quality of life, but thus far, no satisfactory VF implant exists. Therefore, we aim to establish a functional VF implant in a rabbit model by magnetic tissue engineering (MTE) using superparamagnetic iron oxide nanoparticles (SPION). Hence, iron quantification over time as well as cell behavior studies upon SPION treatment are of great importance...
December 2017: Nanoscale Research Letters
https://www.readbyqxmd.com/read/28431452/-treatment-options-for-neurogenic-drop-foot-a-systematic-literature-research
#3
Eike Jakubowitz, Daiwei Yao, Henning Windhagen, Christina Stukenborg-Colsman, Anna Thomann, Kiriakos Daniilidis
Background Neurogenic drop foot may be caused by central or peripheral lesions of the nervous system. Depending on whether the first or second motor neuron is damaged, a flaccid or spastic drop foot develops. Spastic drop foot persists as a residual long-term complication after stroke in about 14 % of patients. Various conservative and surgical treatment options are available. Methods This article is based on a systematic literature review for medical evidence of functional electrical stimulation (FES) with the keywords "functional electrical stimulation AND drop foot" and "functional electrical stimulation AND gait AND stroke" in PubMed and Cochrane databases...
April 21, 2017: Zeitschrift Für Orthopädie und Unfallchirurgie
https://www.readbyqxmd.com/read/28431443/-surgical-and-interventional-therapy-of-mitral-valve-regurgitation
#4
Wolfgang Schillinger, Miriam Puls, Bernhard C Danner
Depending from the etiology of mitral valve pathology and surgical risk, mitral valve surgery is the therapy of choice for most degenerative mitral valve diseases. In isolated secondary mitral valve regurgitation, the indication for interventional or conservative therapy becomes more important. In severe left ventricular dysfunction heart transplantation has to be taken into consideration. If relevant coronary artery disease is present and bypass surgery is indicated, mitral valve surgery is mandatory in severe regurgitation and is subject to a benefit-risk evaluation in moderate regurgitation...
April 2017: Deutsche Medizinische Wochenschrift
https://www.readbyqxmd.com/read/28431433/experimental-anterior-ischemic-optic-neuropathy-in-diabetic-mice-exhibited-severe-retinal-swelling-associated-with-vegf-elevation
#5
Ming-Hui Sun, Mohammad Ali Shariati, Yaping Joyce Liao
Purpose: Diabetes mellitus (DM) is one of the most important risk factors for nonarteritic anterior ischemic optic neuropathy (AION). In this study, we investigated for the first time the impact of experimental AION in a DM model. Methods: We induced a photochemical thrombosis model of AION after streptozotocin-induced DM and performed serial optical coherence tomography (OCT), morphometric analyses, and VEGF levels in the retina and sera. Results: Compared with non-DM animals, experimental AION in DM mice led to significantly greater retinal swelling on day 1 and worse thinning at week 3 on OCT measurements...
April 1, 2017: Investigative Ophthalmology & Visual Science
https://www.readbyqxmd.com/read/28431427/total-spinal-anesthesia-failure-have-you-assessed-the-sensory-anesthesia-in-sacral-dermatomes
#6
Ronaldo Rodrigo de Sá Oliveira, Marília Pinheiro Módolo, Glênio Bitencourt Mizubuti, Anthony M H Ho, Guilherme Antonio Moreira de Barros, Leopoldo Muniz da Silva, Leandro Gobbo Braz, Norma Sueli Pinheiro Módolo, Andrew G Day, Rachel Phelan, Lais Helena Navarro E Lima, Eliana Marisa Ganem
Intrathecal local anesthetic maldistribution is a well-known cause of spinal anesthesia failure (SAF). This could potentially result in sensory blockade restricted to the sacral dermatomes. We sought to determine the overall incidence of SAF and the role of sacral dermatomes in differentiating between total and partial failures. Of the 3111 spinals prospectively examined, 194 (6.2%) were classified as failures. Of the 72 presumed total failures based on the initial assessment, evaluation of the sacral dermatomes revealed sensory blockade in 32 (44%; 95% confidence interval, 32...
May 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28431425/the-association-of-frailty-with-outcomes-and-resource-use-after-emergency-general-surgery-a-population-based-cohort-study
#7
Daniel I McIsaac, Husein Moloo, Gregory L Bryson, Carl van Walraven
BACKGROUND: Older patients undergoing emergency general surgery (EGS) experience high rates of postoperative morbidity and mortality. Studies focused primarily on elective surgery indicate that frailty is an important predictor of adverse outcomes in older surgical patients. The population-level effect of frailty on EGS is poorly described. Therefore, our objective was to measure the association of preoperative frailty with outcomes in a population of older patients undergoing EGS. METHODS: We created a population-based cohort study using linked administrative data in Ontario, Canada, that included community-dwelling individuals aged >65 years having EGS...
May 2017: Anesthesia and Analgesia
https://www.readbyqxmd.com/read/28431406/erk-expression-and-its-correlation-with-stat1-in-esophageal-squamous-cell-carcinoma
#8
Hu Wang, Ying Zhang, Hailong Yun, Shubiao Chen, Yelong Chen, Zhaoyong Liu
BACKGROUND: Esophageal squamous cell carcinoma is one of leading causes of cancer-related deaths in Chaoshan region a high-risk region for esophageal cancer. Extracellular regulated protein kinases (ERK) usually play an important role in cell proliferation and differentiation. However, accumulating evidence has shown that the ERK was aberrantly expressed in cancers and correlated with STAT1 depression. RESULTS: The activated ERK downregulates STAT1 expression in ESCC cell lines and U0126 increases expression of STAT1...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431399/muc2-mucin-deficiency-alters-inflammatory-and-metabolic-pathways-in-the-mouse-intestinal-mucosa
#9
Selamawit Tadesse, Georgia Corner, Elena Dhima, Michele Houston, Chandan Guha, Leonard Augenlicht, Anna Velcich
The mucus layer in the intestine affects several aspects of intestinal biology, encompassing physical, chemical protection, immunomodulation and growth, thus contributing to homeostasis. Mice with genetic inactivation of the Muc2 gene, encoding the MUC2 mucin, the major protein component of mucus, exhibit altered intestinal homeostasis, which is strictly dependent on the habitat, likely due to differing complements of intestinal microbes. Our previous work established that Muc2 deficiency was linked to low chronic inflammation resulting in tumor development in the small, large intestine including the rectum...
April 6, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431397/sensitization-of-tamoxifen-resistant-breast-cancer-cells-by-z-ligustilide-through-inhibiting-autophagy-and-accumulating-dna-damages
#10
Hongyi Qi, Zhuyun Jiang, Chengqiang Wang, Yi Yang, Li Li, Hui He, Zanyang Yu
Autophagy plays a pro-survival role in the tamoxifen-resistant breast cancer cells. Herein we found that autophagy was concomitantly induced in tamoxifen-resistant MCF-7 (MCF-7TR5) cells through the dissociation of Bcl-2 from Beclin 1 and subsequent enhancement of interaction among the ATG14-Beclin1-PI3KC3 complex. Moreover, higher level of DNA damage was observed in MCF-7TR5 cells with the decreased BRCA1 and RAD51 level and the increased Ku80 level. Interestingly, Nur77 was selectively degraded by autophagy, which causes the release of Ku80 from the Nur77-Ku80 complex, resulting in the increase of the DNA binding of Ku80 and DNA-PKcs...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431393/loss-of-tpm4-1-leads-to-disruption-of-cell-cell-adhesions-and-invasive-behavior-in-breast-epithelial-cells-via-increased-rac1-signaling
#11
SukYeong Jeong, SunYoung Lim, Galina Schevzov, Peter W Gunning, David M Helfman
Here we report the identification and characterization of a novel high molecular weight isoform of tropomyosin, Tpm4.1, expressed from the human TPM4 gene. Tpm4.1 expression is down-regulated in a subset of breast cancer cells compared with untransformed MCF10A breast epithelial cells and in highly metastatic breast cancer cell lines derived from poorly metastatic MDA-MD-231 cells. In addition, patients with invasive ductal breast carcinoma show decreased TPM4 expression compared with patients with ductal breast carcinoma in situ, and low TPM4 expression is associated with poor prognosis...
April 4, 2017: Oncotarget
https://www.readbyqxmd.com/read/28431388/retention-and-transport-of-graphene-oxide-in-water-saturated-limestone-media
#12
Shunan Dong, Yuanyuan Sun, Bin Gao, Xiaoqing Shi, Hongxia Xu, Jianfeng Wu, Jichun Wu
In this work, column experiments were conducted to investigate the transport characteristics of graphene oxide (GO) nanoparticles in limestone media under various electrolytes, solution pH, and humic acid (HA) concentration conditions. In the limestone media, GO exhibited relatively low mobility with the mass recovery rate lower than 65.2%, even when solution ionic strength was low. The presence of HA enhanced its mobility. In addition, the presence of S(2-), a divalent anion, also promoted GO transport in limestone media compared to Cl(-) under similar ionic strength conditions through neutralizing more positive charge and thus diminishing the cation bridging...
April 17, 2017: Chemosphere
https://www.readbyqxmd.com/read/28431384/sediment-and-salinity-effects-on-the-bioaccumulation-of-sulfamethoxazole-in-zebrafish-danio-rerio
#13
Y Chen, J L Zhou, L Cheng, Y Y Zheng, J Xu
The dynamic distribution of a widely used antibiotic sulfamethoxazole between water, sediment and aquatic organisms (zebrafish) was studied in microcosms. Sulfamethoxazole concentrations in water were gradually reduced, while in sediment and zebrafish gradually increased, suggesting active adsorption and bioaccumulation processes occurring. The presence of sediment particles and their interactions with water reduced the bioaccumulation of sulfamethoxazole in zebrafish by 13-28%. The sediment of smaller particle size with more organic carbon content and higher surface area, adsorbed sulfamethoxazole more extensively and decreased its bioaccumulation most significantly...
April 14, 2017: Chemosphere
https://www.readbyqxmd.com/read/28431383/protocolized-hyperventilation-enhances-electroconvulsive-therapy
#14
Aida de Arriba-Arnau, Antonia Dalmau, Virginia Soria, Neus Salvat-Pujol, Carmina Ribes, Ana Sánchez-Allueva, José Manuel Menchón, Mikel Urretavizcaya
BACKGROUND: Hyperventilation is recommended in electroconvulsive therapy (ECT) to enhance seizures and to increase patients' safety. However, more evidence is needed regarding its effects and the optimum method of application. METHODS: This prospective study involving 21 subjects compared two procedures, protocolized hyperventilation (PHV) and hyperventilation as usual (HVau), applied to the same patient in two consecutive sessions. Transcutaneous partial pressure of carbon dioxide (TcPCO2) was measured throughout all sessions...
April 13, 2017: Journal of Affective Disorders
https://www.readbyqxmd.com/read/28431376/trichobezoar-presenting-as-a-gastric-outlet-obstruction-a-case-report
#15
Eugene Nwankwo, Edward Daniele, Erin Woller, John Fitzwater, Thomas McGill, Steven E Brooks
INTRODUCTION: Rapunzel syndrome is a rare intestinal condition that starts with the ingestion of a trichobezoar. The condition is predominately found in females and can be associated with trichotillomania, or the compulsive urge to pull one's own hair out. There are less than 40 cases described in the literature with the prevention of recurrence aimed at psychological treatment. PRESENTATION OF CASE: The patient is a 7 year-old girl with a history of trichotillomania with trichophagia as a young child who presented with abdominal pain, nausea, and vomiting, consistent with a gastric outlet obstruction...
March 16, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/28431368/correlates-of-perceived-stigma-for-people-living-with-epilepsy-a-meta-analysis
#16
REVIEW
Ying Shi, Shouqi Wang, Jie Ying, Meiling Zhang, Pengcheng Liu, Huanhuan Zhang, Jiao Sun
OBJECTIVE: Epilepsy, one of the most common, serious chronic neurological diseases, is accompanied by different levels of perceived stigma that affects people in almost all age groups. This stigma can negatively impact the physical and mental health of people living with epilepsy (PLWE). Good knowledge of perceived stigma for PLWE is important. In this study, we conducted a meta-analysis to identify the correlates of perceived stigma for PLWE. METHODS: Studies on factors associated with perceived stigma for PLWE, including sociodemographic, psychosocial, and disease-related variables, were searched in PubMed, PsychINFO, EMBASE, and Web of Science...
April 18, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28431365/attitudes-towards-people-with-epilepsy-in-moscow
#17
Alla Guekht, Anna Gersamiya, Igor Kaimovskiy, Maria Mizinova, Alexander Yakovlev, Alexander Shpak
PURPOSE: To assess the knowledge and attitudes in Moscow towards people with epilepsy (PWE). METHODS: Data were collected from 1167 adults, permanent residents of Moscow, who were interviewed. A 10-item questionnaire was used addressing three major domains: familiarity with epilepsy (2 questions), understanding of epilepsy (5 questions), and attitude towards the PWE (3 questions). Results were standardized to the Moscow population. RESULTS: The study population was generally well informed about epilepsy...
April 17, 2017: Epilepsy & Behavior: E&B
https://www.readbyqxmd.com/read/28431363/nanomaterial-based-electrochemical-sensors-for-arsenic-a-review
#18
REVIEW
Sureshkumar Kempahanumakkagari, Akash Deep, Ki-Hyun Kim, Suresh Kumar Kailasa, Hye-On Yoon
The existence of arsenic in the environment poses severe global health threats. Considering its toxicity, the sensing of arsenic is extremely important. Due to the complexity of environmental and biological samples, many of the available detection methods for arsenic have serious limitations on selectivity and sensitivity. To improve sensitivity and selectivity and to circumvent interferences, different electrode systems have been developed based on surface modification with nanomaterials including carbonaceous nanomaterials, metallic nanoparticles (MNPs), metal nanotubes (MNTs), and even enzymes...
April 13, 2017: Biosensors & Bioelectronics
https://www.readbyqxmd.com/read/28431355/genome-wide-identification-and-analysis-of-the-populus-trichocarpa-tify-gene-family
#19
Yue Wang, Feng Pan, Danmei Chen, Wenyuan Chu, Huanlong Liu, Yan Xiang
The plant-specific TIFY proteins are widely present in land plants and play the important roles in the regulation of plant stress-responses. In this study, we carried out a bioinformatics analysis of TIFY genes in Populus trichocarpa by determining the phylogenetic relationship, chromosomal location and gene structure and expression profiles analysis under stresses. The 24 TIFY genes were identified and classified into four subfamilies (ZML, JAZ, PPD and TIFY). The 24 TIFY genes were irregularly located on 13 of the 19 chromosomes; ten gene pairs were involved in large-scale interchromosomal segmental duplication events; we identified 17 collinear TIFY gene pairs in the Populus trichocarpa genome...
April 13, 2017: Plant Physiology and Biochemistry: PPB
https://www.readbyqxmd.com/read/28431342/discovery-of-tetrahydrocarbazoles-as-dual-perk-and-prb-inhibitors
#20
Mahesh R Kulkarni, Madhav S Mane, Usha Ghosh, Rajiv Sharma, Nitin P Lad, Ankita Srivastava, Asha Kulkarni-Almeida, Prashant S Kharkar, Vijay M Khedkar, Shivaji S Pandit
The extracellular signal-regulated kinase (ERK) is one of the most important molecular targets for cancer that controls diverse cellular processes such as proliferation, survival, differentiation and motility. Similarly, the Rb (retinoblastoma protein) is a tumor suppressor protein and its function is to prevent excessive cell growth by inhibiting cell cycle progression. When the cell is ready to divide, pRb is phosphorylated, becomes inactive and allows cell cycle progression. Herein, we discovered a new series of tetrahydrocarbazoles as dual inhibitors of pERK and pRb phosphorylation...
March 2, 2017: European Journal of Medicinal Chemistry
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