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https://www.readbyqxmd.com/read/29245094/concomitant-rhomboid-shaped-tibiae-and-fibulae-finger-like-projections-and-orthopedic-management-in-a-new-variant-of-nievergelt-syndrome-a-case-report
#1
Tuna Pehlivanoğlu, Mehmet Demirel, Yavuz Sağlam, Halil İbrahim Balci, Hayati Durmaz
INTRODUCTION: The rare Nievergelt syndrome (NS) is the most severe form of mesomelic dysplasia and is characterized by disproportionate shortness of the limbs. The aim of this case report was to describe the clinical and radiological features of a rare case of NS. PRESENTATION OF CASE: Here we describe a female patient originally presenting with bilateral hand, lower leg, and foot deformities at the age of 10 years old. In addition to the characteristic features of NS, this patient presented with finger-like projections on her heels, bilateral hand anomalies, and atypical facial features...
December 8, 2017: International Journal of Surgery Case Reports
https://www.readbyqxmd.com/read/29245054/understanding-the-transmission-of-foot-and-mouth-disease-virus-at-different-scales
#2
REVIEW
David J Paton, Simon Gubbins, Donald P King
Foot-and-mouth disease (FMD) is highly infectious, but despite the large quantities of FMD virus released into the environment and the extreme susceptibility of host species to infection, transmission is not always predictable. Whereas virus spread in endemic settings is characterised by frequent direct and indirect animal contacts, incursions into FMD-free countries may be seeded by low-probability events such as fomite or wind-borne aerosol routes. There remains a void between data generated from small-scale experimental studies and our ability to reliably reconstruct transmission routes at different scales between farms, countries and regions...
December 12, 2017: Current Opinion in Virology
https://www.readbyqxmd.com/read/29244965/management-of-chronic-diabetic-foot-ulcers-using-platelet-rich-plasma
#3
V Babaei, H Afradi, H Z Gohardani, F Nasseri, M Azarafza, S Teimourian
OBJECTIVE: Platelet-rich plasma (PRP) has been proposed as an adjunct for the treatment of foot ulcers in patients with diabetes, as well as a treatment for chronic and acute wounds. This study examined the application of PRP in the treatment of diabetic foot ulcers (DFUs) in patients. METHODS: This prospective study was conducted between 2011 and 2014. We used PRP, produced by a kit, for the treatment of DFUs. Patients were allocated to one of three groups, according to size of ulcer...
December 2, 2017: Journal of Wound Care
https://www.readbyqxmd.com/read/29244787/loss-of-podocalyxin-causes-a-novel-syndromic-type-of-congenital-nephrotic-syndrome
#4
Hee Gyung Kang, Moses Lee, Kyoung Boon Lee, Michael Hughes, Bo Sang Kwon, Sangmoon Lee, Kelly M McNagny, Yo Han Ahn, Jung Min Ko, Il-Soo Ha, Murim Choi, Hae Il Cheong
Many cellular structures directly imply specific biological functions. For example, normal slit diaphragm structures that extend from podocyte foot processes ensure the filtering function of renal glomeruli. These slits are covered by a number of surface proteins, such as nephrin, podocin, podocalyxin and CD2AP. Here we report a human patient presenting with congenital nephrotic syndrome, omphalocele and microcoria due to two loss-of-function mutations in PODXL, which encodes podocalyxin, inherited from each parent...
December 15, 2017: Experimental & Molecular Medicine
https://www.readbyqxmd.com/read/29244535/whether-flexible-flatfoot-needs-the-treatment-an-observation-of-plantar-pressure-effects-on-adults-with-flexible-flatfoot-by-wearing-over-the-counter-insoles-when-walking-on-level-surface-upstairs-and-downstairs
#5
JunNa Zhai, Jue Wang, YuSheng Qiu
BACKGROUND: Orthotic insole is one popular physiotherapy for flatfoot. However, the effects and if flexible flatfoot needs the treatment are not clear and how the plantar pressure change while walking upstairs and downstairs had not been studied. This study observed the plantar pressure of different walking condition to find out the answers. METHODS: Fifteen adults with flexible flatfoot and fifteen adults with normal foot were examined while walking on a level surface, walking up and down 10 cm and 20 cm stairs before treatment...
December 15, 2017: Journal of the American Podiatric Medical Association
https://www.readbyqxmd.com/read/29244534/assessing-infant-carriage-systems-ground-reaction-force-implications-for-gait-of-the-caregiver
#6
Mathew B Brown, Caroline J Digby-Bowl, Samuel D Todd
Objective To assess the acute alterations of anterior infant carriage systems on the ground reaction force experienced during over-ground walking. Background Previous research has identified the alterations in posture and gait associated with an increased anterior load (external or internal); however, the forces applied to the system due to the altered posture during over-ground walking have not been established. Method Thirteen mixed gender participants completed 45 over-ground walking trials at a self-selected pace under three loaded conditions (unloaded, semi-structured carrier 9...
December 1, 2017: Human Factors
https://www.readbyqxmd.com/read/29244109/gadd45a-promotes-active-dna-demethylation-of-the-mmp-9-promoter-via-base-excision-repair-pathway-in-ages-treated-keratinocytes-and-in-diabetic-male-rat-skin
#7
Liyan Zhou, Wei Wang, Chuan Yang, Tingting Zeng, Mengdie Hu, Xiaoyi Wang, Na Li, Kan Sun, Chuan Wang, Jing Zhou, Meng Ren, Li Yan
Diabetes elevates matrix metalloproteinase-9 (MMP-9) levels in the skin and its keratinocytes, and activated MMP-9 impairs skin wound healing. Epigenetic regulation of the DNA methylation status within the MMP-9 promoter plays an important role in the alteration of MMP-9 expression. Our aim was to investigate the role and mechanism of growth arrest and DNA damage-inducible 45a (GADD45a), a well-known DNA demethylation regulatory protein that mediates DNA methylation, in the regulation of MMP-9 expression. In this study, we showed that GADD45a was markedly upregulated in skin tissues from patients with diabetic foot ulcers, in diabetic rats and in human keratinocyte (HaCaT) cells exposed to advanced glycation end products (AGEs)...
December 13, 2017: Endocrinology
https://www.readbyqxmd.com/read/29243556/-preferences-of-aaa-aag-codon-recognition-by-modified-nucleosides-%C3%AF-m5s2u34-and-t6a37-present-in-trnalys
#8
Kailas D Sonawane, Asmita S Kamble, Prayagraj M Fandilolu
Deficiency of 5-taurinomethyl-2-thiouridine, τm5s2U at the 34th 'wobble' position in tRNALys causes MERRF (Myoclonic Epilepsy with Ragged Red Fibers), a neuromuscular disease. This modified nucleoside of mt tRNALys, recognizes AAA/AAG codons during protein biosynthesis process. Its preference to identify cognate codons has not been studied at the atomic level. Hence, multiple MD simulations of various molecular models of anticodon stem loop (ASL) of mt tRNALys in presence and absence of τm5s2U34 and N6-threonylcarbamoyl adenosine (t6A37) along with AAA and AAG codons have been accomplished...
December 15, 2017: Journal of Biomolecular Structure & Dynamics
https://www.readbyqxmd.com/read/29243413/clinical-response-to-apatinib-monotherapy-in-advanced-non-small-cell-lung-cancer
#9
Jianping Xu, Xiaoyan Liu, Sheng Yang, Xiangru Zhang, Yuankai Shi
AIM: Apatinib, an oral tyrosine kinase inhibitor mainly targeting VEGFR-2, exerts both antiangiogenesis and antiproliferation effects. Apatinib shows clinical benefit in advanced non-small cell lung cancer (NSCLC) at an initial dose of 750 mg qd. We further assessed the efficacy and safety of apatinib at a more frequently used dose of 500 mg qd. The preliminary clinical outcome of apatinib in patients with brain metastases was also reported. METHODS: We retrospectively reviewed the clinical data of 25 patients who received apatinib between August 2015 and May 2016...
December 15, 2017: Asia-Pacific Journal of Clinical Oncology
https://www.readbyqxmd.com/read/29243399/diabetic-foot-ulcer-management-in-clinical-practice-in-the-uk-costs-and-outcomes
#10
Julian F Guest, Graham W Fuller, Peter Vowden
The aim of this study was to estimate the patterns of care and annual levels of health care resource use attributable to managing diabetic foot ulcers (DFUs) in clinical practice by the UK's National Health Service (NHS), and the associated costs of patient management. This was a retrospective cohort analysis of the records of 130 patients with a newly diagnosed DFU in The Health Improvement Network (THIN) database. Patients' characteristics, wound-related health outcomes and health care resource use were quantified, and the total NHS cost of patient management was estimated at 2015-2016 prices...
December 15, 2017: International Wound Journal
https://www.readbyqxmd.com/read/29242801/spindle-cell-hemangioma-of-the-midfoot-a-case-report
#11
Tanawat Vaseenon, Jirawat Saengsin, Nuttaya Pattamapaspong, Jongkolnee Settakorn, Dumnoensun Pruksakorn
Introduction: Spindle cell hemangioma (SCH) of the bone (midfoot) is a rare disease, but it can cause symptomatic pain and invade surrounding tissues lead to limb deformities and functional loss. Case Report: We report the case of a 35-year-old woman who experienced a firm mass over the left midfoot for 5 years causing pain and numbness in the foot. Radiographs showed a geographic osteolytic lesion involving calcification of the base of the 2nd and 3rd metatarsals, cuneiforms bones and surrounding soft tissue...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29242800/subtotal-calcanectomy-for-the-treatment-of-chronic-ulcer-associated-with-osteomyelitis-a-case-report
#12
Thiago Batista Faleiro, Alexandre Vasconcelos de Meirelles, Roberto Guimarães Rezende, Herberth Rodrigues Ferreira, Gildásio de Cerqueira Daltro, Renata da Silva Schulz
Introduction: Subtotal calcanectomy is a therapeutic option for the treatment of chronic ulcer associated with calcaneal osteomyelitis. Closure of the surgical wound can be difficult due to the lack of local cutaneous coverage. We present the first case of subtotal calcanectomy in which the ankle was positioned in plantar flexion allowing the primary closure of the surgical wound without the need for flap. Case Report: We present a case of 62-year-old female patient with a foot ulcer associated with osteomyelitis...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29242789/giant-cell-tumor-of-metacarpal-in-the-skeletally-immature-patient-and-free-osteoarticular-metatarsal-transfer-review-of-literature-with-case-report
#13
Pankaj Kumar Mishra, Yash Agarwal, Prakhar Singhal, Kripa Shankar Mishra
Introduction: In the customary wisdom, it is conceded that giant-cell tumor (GCT) is a pathology of fused epiphysis, but there are literatures available to depict that even though rare bit, but it occurs in the skeletally immature patients. Here, we are presenting a rare case of GCT of the fifth metacarpal in the skeletally immature patient. Case Report: It is a case report of a 13-year-old girl with the history of swelling over her right hand for 5 months. X-ray revealed that there was an osteolytic fusiform expansible lesion...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29242787/foot-deformities-in-hajdu-cheney-syndrome-a-rare-case-report-and-review-of-the-literature
#14
Ashish B Shah, Breann K Tisano, Osama Elattar, Jackson Rucker Staggers, Sameer Naranje
Introduction: Hajdu-Cheney syndrome (HCS) is a rare autosomal dominant disease characterized by acroosteolysis, wormian skull bones with persistent skull sutures, premature loss of teeth, micrognathia, short stature, hypermobility of the joints, neurologic manifestations such as basilar invagination with subsequent paresthesia, hearing loss, and speech alterations, and osteoporosis with tendency to pathologic fractures of long bones and vertebrae as well as painful hands and feet. Very few cases have been earlier reported in the literature...
September 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29242411/a-retrospective-study-of-331-deaths-in-children-with-severe-hand-foot-and-mouth-disease-in-guangxi-china
#15
Zhi-Yong Yang, Xiu-Qi Chen, Dan Sun, Dan Wei
OBJECTIVE: To analyze the clinical features of children with hand foot and mouth disease (HFMD) who died. METHODS: 331 deaths due to HFMD were included in this retrospective study; 15 autopsies were performed. RESULTS: Most cases were seen in children aged below 3 years, and with enterovirus 71 infection (91%). The mean (SD) duration of HFMD from onset to death was 3.7(2.9) days. The mean (SD) age of fast progressors (from onset to death less than 4 days) was 17...
December 14, 2017: Indian Pediatrics
https://www.readbyqxmd.com/read/29242313/dissection-of-glomerular-transcriptional-profile-in-patients-with-diabetic-nephropathy-srgap2a-protects-podocyte-structure-and-function
#16
Yu Pan, Song Jiang, Qing Hou, Dandan Qiu, Jingsong Shi, Ling Wang, Zhaohong Chen, Mingchao Zhang, Aiping Duan, Weisong Qin, Ke Zen, Zhihong Liu
Podocytes play a pivotal role in maintaining glomerular filtration function through their interdigitated foot processes. However, the mechanisms that govern the podocyte cytoskeletal rearrangement still remain unclear. Through analyzing transcriptional profile of renal biopsy from diabetic nephropathy (DN) patients and control donors, we identify Slit-Robo GTP activating protein 2a (SRGAP2a) as one of the main 'hub' genes that are strongly associated with proteinuria and glomerular filtration in type 2 DN patients...
December 14, 2017: Diabetes
https://www.readbyqxmd.com/read/29241713/effects-of-superficial-heating-and-insulation-on-walking-speed-in-people-with-hereditary-and-spontaneous-spastic-paraparesis-a-randomised-crossover-study
#17
Amanda L Denton, Alan D Hough, Jennifer A Freeman, Jonathan F Marsden
OBJECTIVES: Cooling of the lower limb in people with Hereditary and Spontaneous Spastic Paraparesis (pwHSSP) has been shown to affect walking speed and neuromuscular impairments. The investigation of practical strategies which may help to alleviate these problems is important. The potential of superficial heat to improve walking speed has not been explored in pwHSSP. Primary objective was to explore whether the application of superficial heat (hot packs) to lower limbs in pwHSSP improves walking speed...
December 11, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29241625/vinculin-is-required-to-maintain-glomerular-barrier-integrity
#18
Franziska Lausecker, Xuefei Tian, Kazunori Inoue, Zhen Wang, Christopher E Pedigo, Hossam Hassan, Chang Liu, Margaret Zimmer, Stephanie Jinno, Abby L Huckle, Hellyeh Hamidi, Robert S Ross, Roy Zent, Christoph Ballestrem, Rachel Lennon, Shuta Ishibe
Cell-matrix interactions and podocyte intercellular junctions are key for maintaining the glomerular filtration barrier. Vinculin, a cytoplasmic protein, couples actin filaments to integrin-mediated cell-matrix adhesions and to cadherin-based intercellular junctions. Here, we examined the role of vinculin in podocytes by the generation of a podocyte-specific knockout mouse. Mice lacking podocyte vinculin had increased albuminuria and foot process effacement following injury in vivo. Analysis of primary podocytes isolated from the mutant mice revealed defects in cell protrusions, altered focal adhesion size and signaling, as well as impaired cell migration...
December 11, 2017: Kidney International
https://www.readbyqxmd.com/read/29241621/confocal-super-resolution-imaging-of-the-glomerular-filtration-barrier-enabled-by-tissue%C3%A2-expansion
#19
David Unnersjö-Jess, Lena Scott, Sonia Zambrano Sevilla, Jaakko Patrakka, Hans Blom, Hjalmar Brismar
The glomerular filtration barrier, has historically only been spatially resolved using electron microscopy due to the nanometer-scale dimensions of these structures. Recently, it was shown that the nanoscale distribution of proteins in the slit diaphragm can be resolved by fluorescence based stimulated emission depletion microscopy, in combination with optical clearing. Fluorescence microscopy has advantages over electron microscopy in terms of multiplex imaging of different epitopes, and also the amount of volumetric data that can be extracted from thicker samples...
December 11, 2017: Kidney International
https://www.readbyqxmd.com/read/29241447/six-year-survival-of-reimplanted-talus-after-isolated-total-talar-extrusion-a%C3%A2-case-report
#20
Jae-Man Kwak, Sung-Keun Heo, Gu-Hee Jung
BACKGROUND: Open total extrusion of the talus without concomitant fracture is an extremely rare injury. We present 6-year follow-up data of a patient treated using a temporary spanning external fixator and less invasive single K-wire fixation. CASE PRESENTATION: A 55-year-old Asian man who had a totally extruded talus without fracture underwent immediate reimplantation surgery. A spanning external fixator with single antegrade K-wire fixation was applied to maintain the reimplanted talus...
December 15, 2017: Journal of Medical Case Reports
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