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https://www.readbyqxmd.com/read/28437467/mutant-uromodulin-expression-leads-to-altered-homeostasis-of-the-endoplasmic-reticulum-and-activates-the-unfolded-protein-response
#1
Céline Schaeffer, Stefania Merella, Elena Pasqualetto, Dejan Lazarevic, Luca Rampoldi
Uromodulin is the most abundant urinary protein in physiological conditions. It is exclusively produced by renal epithelial cells lining the thick ascending limb of Henle's loop (TAL) and it plays key roles in kidney function and disease. Mutations in UMOD, the gene encoding uromodulin, cause autosomal dominant tubulointerstitial kidney disease uromodulin-related (ADTKD-UMOD), characterised by hyperuricemia, gout and progressive loss of renal function. While the primary effect of UMOD mutations, retention in the endoplasmic reticulum (ER), is well established, its downstream effects are still largely unknown...
2017: PloS One
https://www.readbyqxmd.com/read/28437129/acute-ankle-sprain-in-a-mouse-model-changes-in-knee-joint-space
#2
Tricia Hubbard-Turner, Erik A Wikstrom, Sophie Guderian, Michael J Turner
CONTEXT:   Ankle sprains remain the most common orthopaedic injury. Conducting long-term studies in humans is difficult and costly, so the long-term consequences of an ankle sprain are not entirely known. OBJECTIVE:   To measure knee-joint space after a single surgically induced ankle sprain in mice. DESIGN:   Randomized controlled trial. SETTING:   University research laboratory. PATIENTS OR OTHER PARTICIPANTS:   Thirty male mice (CBA/2J) were randomly placed into 1 of 3 surgical groups: the transected calcaneofibular ligament (CFL) group, the transected anterior talofibular ligament/CFL group, and a sham treatment group...
April 24, 2017: Journal of Athletic Training
https://www.readbyqxmd.com/read/28436378/outcomes-of-corpectomy-in-patients-with-metastatic-cancer
#3
Grzegorz Guzik
BACKGROUND: The objective of surgical management of spinal metastases is to reduce pain and improve the patient's quality of life. The operation should restore spinal stability and decompress neural structures. One surgical technique is corpectomy followed by vertebral body reconstruction and stabilisation of the spine. The procedure may be performed in patients in overall good health and a good survival prognosis. The aim of this paper is to present the outcomes of surgical management of spinal metastases in patients who underwent corpectomy followed by vertebral body reconstruction and stabilisation of the spine...
January 26, 2017: Ortopedia, Traumatologia, Rehabilitacja
https://www.readbyqxmd.com/read/28436085/effect-of-triclosan-on-anuran-development-and-growth-in-a-larval-amphibian-growth-and-development-assay
#4
Douglas J Fort, Michael B Mathis, Sascha Pawlowski, Jeffrey C Wolf, Robert Peter, Samantha Champ
A larval amphibian growth and development assay was performed to evaluate the potential effects of environmentally-relevant concentrations of triclosan (TCS) on amphibian development and growth. Xenopus laevis were exposed to TCS 0.0 (control), 6.3, 12.5 and 25.0 μg l(-1) (estimated maximum tolerable concentration) until 10 weeks post-metamorphosis. At median metamorphosis time (Nieuwkoop and Faber stage 62), five larvae per replicate were collected for snout-vent length, hind limb length and body weight measurements, and histopathological examination of thyroid glands...
April 24, 2017: Journal of Applied Toxicology: JAT
https://www.readbyqxmd.com/read/28435475/linear-and-bilateral-multinucleated-cell-angiohistiocytoma-mcah
#5
Valeria Coco, Cristina Guerriero, Alessandro Di Stefani, Ilaria Pennacchia, Ketty Peris
BACKGROUND: Multinucleated Cell Angiohistiocytoma (MCAH) is a rare disease, first described by Smith and Wilson Jones in 1985. Since then, less than 100 cases have been reported in the literature. Clinically it is characterized by papules or plaques arising from a specific anatomical area such as lower extremities, dorsum of the hands and face. Some generalized cases have been reported. MAIN OBSERVATIONS: We report a case of 77-year-old woman who presented with multiple itching...
December 31, 2016: Journal of Dermatological Case Reports
https://www.readbyqxmd.com/read/28433939/enhanced-proangiogenic-potential-of-mesenchymal-stem-cell-derived-exosomes-stimulated-by-a-nitric-oxide-releasing-polymer
#6
Wei Du, Kaiyue Zhang, Shuaiqiang Zhang, Ran Wang, Yan Nie, Hongyan Tao, Zhibo Han, Lu Liang, Di Wang, Jianfeng Liu, Na Liu, Zhongchao Han, Deling Kong, Qiang Zhao, Zongjin Li
Mesenchymal stem cell (MSC)-derived exosomes have been recognized as new candidates for the treatment of degenerative diseases or injury and may provide an alternative to cell-based therapy. However, the compositions in MSC-derived exosomes are highly influenced by the microenvironment in which their original cells reside. Here, we hypothesized that a nitric oxide (NO)-releasing polymer can boost the proangiogenic compositions of exosomes and enhance their proangiogenic capacity. Our results demonstrated that exosomes, released from human placenta-derived MSCs (hP-MSCs) by NO stimulation, augment the angiogenic effects of human umbilical vein endothelial cells (HUVECs) in vitro...
April 17, 2017: Biomaterials
https://www.readbyqxmd.com/read/28433416/static-postural-control-in-youth-with-osteogenesis-imperfecta-type-i
#7
Annie Pouliot-Laforte, Martin Lemay, Frank Rauch, Louis-Nicolas Veilleux
OBJECTIVE: To assess static postural control in eyes-open and eyes-closed conditions in individuals with osteogenesis imperfecta (OI) type I as compared to typically developing (TD) individuals. The second aim was to explore the relation between postural control and lower-limbs muscle function. DESIGN: This is a cross-sectional study. SETTINGS: The study was carried out in the outpatient department of a pediatric orthopedic hospital. PARTICIPANTS: 22 individuals with OI type I (mean age [range]: 13...
April 19, 2017: Archives of Physical Medicine and Rehabilitation
https://www.readbyqxmd.com/read/28432749/motor-nerve-excitability-after-childhood-guillain-barr%C3%A3-syndrome
#8
Judith Drenthen, Joyce Roodbol, Ellen M Maathuis, Coriene E Catsman-Berrevoets, Joleen H Blok, Marie-Claire Y de Wit, Bart C Jacobs
OBJECTIVE: To determine the residual motor nerve dysfunction after pediatric Guillain-Barré syndrome (GBS). METHODS: Observational cross-sectional cohort study in patients who previously developed GBS during childhood (<18 years). Ulnar motor nerve dysfunction was defined by compound motor action potential (CMAP) scan in patients after a follow-up of at least one year compared with age-matched healthy controls, in relation to clinical course and outcome. RESULTS: Thirty-seven persons previously diagnosed with GBS in childhood were included with a mean age at current examination of 20...
April 21, 2017: Journal of the Peripheral Nervous System: JPNS
https://www.readbyqxmd.com/read/28429672/the-molecular-mechanisms-of-thalidomide-teratogenicity-and-implications-for-modern-medicine
#9
J Knobloch, D Jungck, A Koch
Thalidomide is a teratogen that affects many organs but primarily induces limb truncations like phocomelia. Rodents are thalidomide resistant. In the 1950s, this has led to misinterpretations of animal tests and to the fatal assumption that the drug was safe for pregnant women to use against morning sickness. The result was one of the biggest scandals in medical history: 10.000 and more infants with birth defects in Europe. Nonetheless, thalidomide still has its place in modern medicine as it has strong therapeutic potential: it has been approved by the FDA for multiple myeloma and erythema nodosum leprosum, and its anti-inflammatory, immunomodulatory and anti-angiogenic activities are considered in many other refractory diseases...
March 31, 2017: Current Molecular Medicine
https://www.readbyqxmd.com/read/28429524/the-investigation-of-genetic-and-clinical-features-in-chinese-patients-with-juvenile-amyotrophic-lateral-sclerosis
#10
Z-J Liu, H-X Lin, G-L Liu, Q-Q Tao, W Ni, B-G Xiao, Z-Y Wu
Juvenile amyotrophic lateral sclerosis (JALS) occurs at an age of onset below 25 years with a heterogeneous disease onset location, variable progression and survival time. To investigate whether an ALS gene profile could resolve any aspects of clinical symptom heterogeneity, we have used targeted sequencing technology in a cohort of 12 JALS patients of Chinese descent. We detected 5 likely pathogenic mutations, 2 in familial probands and 3 in sporadic patients. One was a known TARDBP mutation (p.G348V) and 4 were FUS frameshift mutations including a known p...
March 16, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28428919/tibial-bone-grafting-for-wrist-reconstruction
#11
Schneider K Rancy, Stephanie D Malliaris, Scott W Wolfe
Background Iliac crest bone graft harvesting is routinely performed for upper extremity orthopedic procedures despite high complication rates associated with sensory nerve injury, hematoma, chronic pain, and fracture. Description of Technique Cancellous bone graft is harvested from the proximal tibia using a medial approach, minimizing donor site morbidity. Patients and Methods A retrospective review was undertaken of 14 patients who underwent cancellous proximal tibia bone graft harvesting to augment healing of wrist reconstruction, with 2 months minimum follow-up...
May 2017: Journal of Wrist Surgery
https://www.readbyqxmd.com/read/28427701/multiple-sclerosis-showing-elevation-of-adenosine-deaminase-levels-in-the-cerebrospinal-fluid
#12
Miharu Samuraki, Kenji Sakai, Yasuko Odake, Mitsuhiro Yoshita, Kouichi Misaki, Mitsutoshi Nakada, Masahito Yamada
An 80-year-old man developed dysarthria, quadriplegia, sensory disturbance and ataxia in all limbs. Brain and spinal magnetic resonance imaging (MRI) revealed multiple enhanced lesions. Cerebrospinal fluid (CSF) levels of adenosine deaminase (ADA) remarkably elevated. Tuberculosis DNA was not detected, and tuberculosis was not cultured either in the CSF. Brain biopsy revealed the inflammatory demyelinating lesions. With the diagnosis of multiple sclerosis, corticosteroid therapy resulted in rapid improvement of his symptoms and MRI abnormalities...
April 2017: Multiple Sclerosis and related Disorders
https://www.readbyqxmd.com/read/28427313/sensitivity-of-a-juvenile-subject-specific-musculoskeletal-model-of-the-ankle-joint-to-the-variability-of-operator-dependent-input
#13
Iain Hannah, Erica Montefiori, Luca Modenese, Joe Prinold, Marco Viceconti, Claudia Mazzà
Subject-specific musculoskeletal modelling is especially useful in the study of juvenile and pathological subjects. However, such methodologies typically require a human operator to identify key landmarks from medical imaging data and are thus affected by unavoidable variability in the parameters defined and subsequent model predictions. The aim of this study was to thus quantify the inter- and intra-operator repeatability of a subject-specific modelling methodology developed for the analysis of subjects with juvenile idiopathic arthritis...
May 2017: Proceedings of the Institution of Mechanical Engineers. Part H, Journal of Engineering in Medicine
https://www.readbyqxmd.com/read/28424287/protective-efficacy-of-formaldehyde-inactivated-whole-virus-vaccine-and-antivirals-in-a-murine-model-of-coxsackievirus-a10-infection
#14
Zhenjie Zhang, Zhaopeng Dong, Juan Li, Michael J Carr, Dongming Zhuang, Jianxing Wang, Yawei Zhang, Shujun Ding, Yigang Tong, Dong Li, Weifeng Shi
Coxsackievirus A10 (CVA10) is one of the major pathogens associated with hand, foot and mouth disease (HFMD). CVA10 infection can cause herpangina and viral pneumonia, which can be complicated by severe neurological sequelae. Morbidity and mortality of CVA10-associated HFMD has been increasing in recent years, particularly in the pan-Pacific region. There are limited studies however on the pathogenesis and immunology of CVA10-associated HFMD infections, and few antiviral drugs or vaccines have been reported...
April 19, 2017: Journal of Virology
https://www.readbyqxmd.com/read/28424224/novel-strategies-to-reduce-femoropopliteal-restenosis-low-dose-paclitaxel-coated-balloons-and-paclitaxel-coated-balloons-plus-stenting
#15
Andrew M Goldsweig, Herbert D Aronow
Peripheral artery disease (PAD) affects more than 200 million individuals worldwide, and those with exertional leg discomfort, rest pain, and tissue or limb loss have significantly impaired functional status and quality of life. Despite their lower associated risk of repeat revascularization, open surgical procedures have been largely supplanted by endovascular intervention for symptomatic PAD given the lower associated morbidity and mortality. Although standalone plain-old percutaneous transluminal angioplasty (PTA) was previously the standard endovascular strategy for these patients, high procedural failure and restenosis rates led to the development of new therapeutic technologies...
April 19, 2017: Circulation
https://www.readbyqxmd.com/read/28422522/molecular-genetic-characterization-of-a-chinese-family-with-severe-split-hand-foot-malformation
#16
Lihua Cao, Wei Yang, Shusen Wang, Chen Chen, Xue Zhang, Yang Luo
AIMS: Split hand/foot malformation (SHFM) is a congenital limb malformation characterized by underdeveloped or absent central digital rays, clefts of the hands and feet, and variable syndactyly of the remaining digits. SHFM is a genetically heterogeneous disease; the aim of this study was to identify pathogenic variations in a Chinese family with SHFM. MATERIALS AND METHODS: Haplotype analyses with microsatellite markers covering the five SHFM loci were performed to localize the causative locus...
April 19, 2017: Genetic Testing and Molecular Biomarkers
https://www.readbyqxmd.com/read/28422434/rat-hindlimb-cryopreservation-and-transplantation-a-step-towards-organ-banking
#17
Amir Arav, Or Friedman, Yehudit Natan, Eyal Gur, Nir Shani
In 2016 over 5 million reconstructive procedures were performed in the USA. The recent successes of clinical vascularized composite allotransplantations (VCA), hand and face transplantations included, established the tremendous potential of these life-enhancing reconstructions. Nevertheless, Due to limited availability and lifelong immunosuppression, application is limited. Long term banking of composite transplants may increase the availability of esthetically compatible parts with partial or complete HLA matching, reducing the risk of rejection and the immunosuppressive burden...
April 19, 2017: American Journal of Transplantation
https://www.readbyqxmd.com/read/28422159/spastic-paraplegia-linked-phospholipase-papla1-is-necessary-for-development-reproduction-and-energy-metabolism-in-drosophila
#18
Martina Gáliková, Peter Klepsatel, Judith Münch, Ronald P Kühnlein
The human PAPLA1 phospholipase family is associated with hereditary spastic paraplegia (HSP), a neurodegenerative syndrome characterized by progressive spasticity and weakness of the lower limbs. Taking advantage of a new Drosophila PAPLA1 mutant, we describe here novel functions of this phospholipase family in fly development, reproduction, and energy metabolism. Loss of Drosophila PAPLA1 reduces egg hatchability, pre-adult viability, developmental speed, and impairs reproductive functions of both males and females...
April 19, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28421958/acute-limb-compartment-syndrome-in-the-lower-leg-following-trauma-assessment-in-the-intensive-care-unit
#19
Emma Limbert, Julie Santy-Tomlinson
Acute limb compartment syndrome (ALCS) is a serious complication of traumatic injury. Although ALCS can occur in any limb, it most commonly occurs following injury to the lower leg, particularly in fractures of the tibia. Practitioners should recognise and treat ALCS as early as possible to prevent the development of further, potentially serious, complications. Most of the literature recommends that patients at risk of ALCS should be carefully monitored, with a focus on pain as the main symptom. However, patients in the intensive care unit (ICU) who are unconscious or sedated may be unable to report pain or are unreliable in doing so, therefore it is necessary to consider alternative assessments for ALCS...
April 19, 2017: Nursing Standard
https://www.readbyqxmd.com/read/28421821/modeling-and-dynamic-simulation-of-astronaut-s-upper-limb-motions-considering-counter-torques-generated-by-the-space-suit
#20
Jingwen Li, Qing Ye, Li Ding, Qianfang Liao
Extravehicular activity (EVA) is an inevitable task for astronauts to maintain proper functions of both the spacecraft and the space station. Both experimental research in a microgravity simulator (e.g. neutral buoyancy tank, zero-g aircraft or a drop tower/tube) and mathematical modeling were used to study EVA to provide guidance for the training on Earth and task design in space. Modeling has become more and more promising because of its efficiency. Based on the task analysis, almost 90% of EVA activity is accomplished through upper limb motions...
April 19, 2017: Computer Methods in Biomechanics and Biomedical Engineering
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