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https://www.readbyqxmd.com/read/28098115/a-novel-fibrillin-1-mutation-in-an-egyptian-marfan-family-a-proband-showing-nephrotic-syndrome-due-to-focal-segmental-glomerulosclerosis
#1
Mohammad Al-Haggar, Ashraf Bakr, Yahya Wahba, Paul J Coucke, Fatma El-Hussini, Mona Hafez, Riham Eid, Abdel-Rahman Eid, Amr Sarhan, Ali Shaltout, Ayman Hammad, Sohier Yahia, Ahmad El-Rifaie, Dina Abdel-Hadi
Marfan syndrome (MFS), the founding member of connective tissue disorder, is an autosomal dominant disease; it is caused by a deficiency of the microfibrillar protein fibrillin-1 (FBN1) and characterized by involvement of three main systems; skeletal, ocular, and cardiovascular. More than one thousand mutations in FBN1 gene on chromosome 15 were found to cause MFS. Nephrotic syndrome (NS) had been described in very few patients with MFS being attributed to membranoproliferative glomerulonephritis secondary to infective endocarditis...
January 2017: Saudi Journal of Kidney Diseases and Transplantation
https://www.readbyqxmd.com/read/28094436/cartilage-hair-hypoplasia-with-normal-height-in-childhood-four-patients-with-a-unique-genotype
#2
Paula Klemetti, Helena Valta, Svetlana Kostjukovits, Mervi Taskinen, Sanna Toiviainen-Salo, Outi Mäkitie
The manifestations of cartilage-hair hypoplasia (CHH), a metaphyseal chondrodysplasia caused by RMRP mutations, include short stature, hypoplastic hair, immunodeficiency and increased risk of malignancies. Clinical features show significant variability. We report a patient with normal height until age 12.5 years (-1.6 SDS at 11 years) who was diagnosed with CHH at 14 years. RMRP sequencing revealed compound heterozygosity for g.70A>G mutation and a 10-nucleotide duplication at position -13 (TACTCTGTGA)...
January 17, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28091836/assessment-of-edema-using-stir-via-3d-cardiovascular-magnetic-resonance-imaging-in-patients-with-suspected-myocarditis
#3
Michael Jeserich, Bela Merkely, Pascal Schlosser, Simone Kimmel, Gabor Pavlik, Stephan Achenbach
OBJECTIVE: To evaluate three-dimensional T2-weighted fast spin echo triple inversion recovery sequences (STIR+) for the diagnosis of myocardial edema in patients with suspected early myocarditis after respiratory or gastrointestinal tract viral infection and at follow-up. MATERIALS AND METHODS: We prospectively examined 28 patients with suspected myocarditis and 37 controls matched for gender and age. An ECG-triggered STIR+ was used to cover the entire left ventricle in short-axis images with 10-mm slice thickness and no interslice gap...
January 16, 2017: Magma
https://www.readbyqxmd.com/read/28091386/prevalence-of-infection-with-the-larval-form-of-the-cestode-parasite-taenia-saginata-in-cattle-in-northwest-iran-and-its-zoonotic-importance
#4
Mohammad Mirzaei, Ahmad Nematolahi, Javad Ashrafihelan, Hadi Rezaei
OBJECTIVE: Bovine cysticercosis is a cattle infection caused by a tapeworm, Taenia saginata. While the condition is relatively innocuous, the parasite infects the small intestine of humans in its mature stage and causes a few specific symptoms such as abdominal pain and nausea. METHODS: Between February 2013 and February 2014, a total of 640 cattle were randomly selected from all the cattle sent to the abattoir, and some internal organs and skeletal muscles of these cattle were inspected...
December 2016: Türkiye Parazitolojii Dergisi
https://www.readbyqxmd.com/read/28080920/phaeohyphomycosis-associated-with-ossification-of-the-skull-and-cervical-vertebrae-in-a-swell-shark-cephaloscyllium-ventriosum
#5
Claire D Erlacher-Reid, Hendrik H Nollens, Todd L Schmitt, Judy St Leger, Sarena Sunico
A female, captive bred, juvenile swell shark ( Cephaloscyllium ventriosum ) was observed swimming in tight circles and rolling. Radiographs and computed tomography of this individual revealed extensive cartilage mineralization of the skull and cranial cervical vertebrae compared with diagnostic images of clinically healthy conspecifics. Gross necropsy and histopathologic examination revealed ossification and fibrosis of the cartilaginous matrix of the skull and cervical vertebrae with deep invasion by a pigmented hyphal fungus...
December 2016: Journal of Zoo and Wildlife Medicine: Official Publication of the American Association of Zoo Veterinarians
https://www.readbyqxmd.com/read/28079834/intestinal-brucellosis-associated-with-celiac-artery-and-superior-mesenteric-artery-stenosis-and-with-ileum-mucosa-and-submucosa-thickening-a-case-report
#6
Miaoqian Wang, Qingli Zhu, Qian Yang, Wenbo Li, Xinning Wang, Wei Liu, Baotong Zhou, Zhenghong Li, Hong Yang
RATIONALE: Brucellosis is a multisystem infection found worldwide that has a broad range of characteristics, which range from acute fever and hepatomegaly to chronic infections that most commonly affect the central nervous system, cardiovascular system, or skeletal system. Gastrointestinal and splanchnic artery involvements in brucellosis are relatively uncommon. PATIENT CONCERNS: We report a case of brucellosis in an adolescent presenting as intermittent abdominal pain, diarrhea, and fever, with intestinal tract involvement...
January 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28074705/an-uncommon-cause-of-sciatic-pain-tuberculous-osteomyelitis-of-the-ischial-tuberosity
#7
Pieter De Mulder, Charlotte Harth, Louis Ide, Jurgen Vallaeys, Nick Baelde, Thomas De Bo
A 66-year-old Caucasian female presented with insidious sciatic pain leading to an uncommon diagnosis of tuberculous osteomyelitis with unknown portal entry. The patient did not report a history of a previous tuberculosis (TB) infection and her chest X-ray was negative for TB. Considering TB in the differential diagnosis of a 'bone abscess', it is of paramount importance to come to a correct diagnosis. Conventional radiographs still remain the first-line imaging modality for evaluation of skeletal symptomatology...
January 11, 2017: Acta Clinica Belgica
https://www.readbyqxmd.com/read/28070628/osseointegrated-prosthetic-limb-for-the-treatment-of-lower-limb-amputations-experience-and-outcomes
#8
Munjed Al Muderis, William Lu, Jiao Jiao Li
BACKGROUND: Osseointegration has emerged over the past two decades as a dramatically different approach for the treatment of lower limb amputations, which involves direct attachment of the prosthesis to the skeletal residuum. This approach can address many of the socket-interface issues associated with socket prostheses which represent the current standard of care for amputees. The Osseointegrated Prosthetic Limb (OPL) is an osseointegration implant with a new design and improved features compared to other available implant systems...
January 9, 2017: Der Unfallchirurg
https://www.readbyqxmd.com/read/28069597/chronic-binge-alcohol-induced-dysregulation-of-mitochondrial-related-genes-in-skeletal-muscle-of-simian-immunodeficiency-virus-infected-rhesus-macaques-at-end-stage-disease
#9
Anthony A Duplanty, Liz Simon, Patricia E Molina
AIMS: Alcohol use disorders are more prevalent in HIV patients than the general population. Both chronic alcohol consumption and HIV infection have been linked to mitochondrial dysregulation; and this is considered an important mechanism in the pathogenesis of muscle myopathy. This study investigated if chronic binge alcohol (CBA) administration impairs the expression of genes involved in mitochondrial homeostasis in SIV-infected macaques. METHODS: Male rhesus macaques were administered daily CBA (to achieve peak blood alcohol concentrations of 50-60 mM within 2 h after start of infusion) or sucrose (SUC) intragastrically 3 months prior to intravenous SIVmac251 inoculation and continued until macaques met criteria for end-stage disease...
January 8, 2017: Alcohol and Alcoholism: International Journal of the Medical Council on Alcoholism
https://www.readbyqxmd.com/read/28064564/aspartate-inhibits-lps-induced-mafbx-and-murf1-expression-in-skeletal-muscle-in-weaned-pigs-by-regulating-akt-ampk%C3%AE-and-foxo1
#10
Yulan Liu, Xiuying Wang, Weibo Leng, Dingan Pi, Zhixiao Tu, Huiling Zhu, Haifeng Shi, Shuang Li, Yongqing Hou, Chien-An Andy Hu
Infection and inflammation can result in the rapid loss of muscle mass and myofibrillar proteins (muscle atrophy). In addition, aspartate (Asp) is necessary for protein synthesis in mammalian cells. We hypothesized that Asp could attenuate LPS-induced muscle atrophy in a piglet model. Twenty-four weaning piglets were allotted to four treatments, including non-challenged control, LPS challenged control, LPS+0.5% Asp and LPS+1.0% Asp. On d 21, the piglets were injected with i.p. injection of LPS (100 ug/kg BM) or saline...
January 2017: Innate Immunity
https://www.readbyqxmd.com/read/28063233/establishment-of-a-new-conditionally-immortalized-human-skeletal-muscle-microvascular-endothelial-cell-line
#11
Hironori Sano, Yasuteru Sano, Eri Ishiguchi, Fumitaka Shimizu, Masatoshi Omoto, Toshihiko Maeda, Hideaki Nishihara, Yukio Takeshita, Shiori Takahashi, Mariko Oishi, Takashi Kanda
In skeletal muscle, the capillaries have tight junctions (TJs) that are structurally similar to those in the blood-brain barrier (BBB) and blood-nerve barrier (BNB). Although many findings have been clarified in the territory of BBB and BNB, few have so far examined the TJs of capillaries in the skeletal muscle. In addition, no in vitro human skeletal muscle microvasculature models have been reported thus far. We newly established a new human skeletal muscle microvascular endothelial cell (HSMMEC) line. HSMMECs were isolated from human skeletal muscle and were infected with retroviruses harboring temperature-sensitive SV40 T antigen and telomerase genes...
January 7, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/28056084/sbds-deficient-cells-have-an-altered-homeostatic-equilibrium-due-to-translational-inefficiency-which-explains-their-reduced-fitness-and-provides-a-logical-framework-for-intervention
#12
Piera Calamita, Annarita Miluzio, Arianna Russo, Elisa Pesce, Sara Ricciardi, Farhat Khanim, Cristina Cheroni, Roberta Alfieri, Marilena Mancino, Chiara Gorrini, Grazisa Rossetti, Ivana Peluso, Massimiliano Pagani, Diego L Medina, Johanna Rommens, Stefano Biffo
Ribosomopathies are a family of inherited disorders caused by mutations in genes necessary for ribosomal function. Shwachman-Diamond Bodian Syndrome (SDS) is an autosomal recessive disease caused, in most patients, by mutations of the SBDS gene. SBDS is a protein required for the maturation of 60S ribosomes. SDS patients present exocrine pancreatic insufficiency, neutropenia, chronic infections, and skeletal abnormalities. Later in life, patients are prone to myelodisplastic syndrome and acute myeloid leukemia (AML)...
January 2017: PLoS Genetics
https://www.readbyqxmd.com/read/28053380/plating-versus-conservative-treatment-in-mid-shaft-fractures-of-clavicle-a-comparative-study
#13
R K S Dhakad, Mahendra Panwar, Sameer Gupta
OBJECTIVES: Mid shaft clavicle fractures have traditionally been treated by conservative means with good outcome. ORIF with plating is an upcoming option to improve outcome further. Aim of this study is to compare the outcome of anterosuperior plating with conservative treatment. METHODS: The study was conducted over a period of one year, with 50 skeletally mature closed mid shaft fractures included. Alternate patients were operated using a 3.5 mm anterosuperior LCP...
October 2016: Journal of Clinical Orthopaedics and Trauma
https://www.readbyqxmd.com/read/28045812/miniplate-with-a-bendable-c-tube-head-allows-the-clinician-to-alter-biomechanical-advantage-in-extremely-complicated-anatomic-structure
#14
Kyung Won Seo, Nur Serife Iskenderoglu, Eui Hwan Hwang, Kyu-Rhim Chung, Seong-Hun Kim
BACKGROUNDS: This article reports C-tube miniplates as a practical temporary anchorage device choice to treat open bite patients with maxillary sinus pneumatization. METHODS: The C-tube components are titanium anchor plates and monocortical screws that are basically similar to any other miniplate systems, but it has the unique characteristic of the tube head to be malleable. The manipulation of the head part is easy due to the composition of pure titanium. The I-shaped C-tube with 3 holes and T-shaped C-tube miniplates were placed above the apices of maxillary molars as an absolute anchorage system to intrude the posterior maxilla...
December 30, 2016: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28013263/invasive-systemic-infection-after-hospital-treatment-for-diabetic-foot-ulcer-risk-of-occurrence-and-effect-on-survival
#15
Shey-Ying Chen, John M Giurini, Adolf W Karchmer
BACKGROUND: Diabetic foot ulcers (DFUs) threaten limbs and prompt hospitalization. After hospitalization, remote-site invasive systemic infection related to DFU (DFU-ISI) may occur. The characteristics of DFU-ISIs and their effect on mortality risk have not been defined. METHODS: We conducted a retrospective cohort study of 819 diabetic patients hospitalized for treatment of 1212 unique DFUs during a 9-year period. We defined the index ulcer as that present at the first (index) DFU admission to our hospital...
February 1, 2017: Clinical Infectious Diseases: An Official Publication of the Infectious Diseases Society of America
https://www.readbyqxmd.com/read/28003031/pyomyositis-is-not-only-a-tropical-pathology-a-case-series
#16
Laura Comegna, Paola Irma Guidone, Giovanni Prezioso, Simone Franchini, Marianna Immacolata Petrosino, Paola Di Filippo, Francesco Chiarelli, Angelika Mohn, Nadia Rossi
BACKGROUND: Pyomyositis is an acute bacterial infection of skeletal muscle that results in localized abscess formation. This infection was thought to be endemic to tropical countries, and is also known as "tropical pyomyositis". However, pyomyositis is increasingly recognized in temperate climates and is frequently associated with an immunosuppressive condition, such as human immunodeficiency virus, malignancy, and diabetes mellitus. It is also found in healthy and athletic people after strenuous or vigorous exercise or following localized and possibly unnoticed trauma...
December 21, 2016: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/27968915/dynamic-contrast-enhanced-mri-to-predict-response-to-vinorelbine-cisplatin-alone-or-with-rh-endostatin-in-patients-with-non-small-cell-lung-cancer-and-bone-metastases-a-randomised-double-blind-placebo-controlled-trial
#17
Rui Zhang, Zhi-Yu Wang, Yue-Hua Li, Yao-Hong Lu, Shuai Wang, Wen-Xi Yu, Hui Zhao
BACKGROUND: Metastatic bone disease is a frequent complication of advanced non-small-cell lung cancer and causes skeletal-related events which result in a poor prognosis. A standard method to assess the therapeutic response of bone metastases does not currently exist. We used dynamic contrast-enhanced MRI to obtain quantitative measures to assess the suitability of this technique to gauge therapeutic response to vinorelbine-cisplatin plus rh-endostatinfor previously untreated non-small cell lung cancer with bone metastases...
October 2016: Lancet
https://www.readbyqxmd.com/read/27958596/lipofilling-as-refinement-procedure-in-maxillo-mandibular-malformations
#18
D Cervelli, G Gasparini, A Moro, S Pelo, E Foresta, F Grussu, G D'Amato, P De Angelis, G Saponaro
Maxillo-mandibular asymmetry has numerous aetiologies: congenital, traumatic, iatrogenic and post-oncologic. Patients with congenital dentofacial malformations are generally submitted to orthognathic surgery and/or additional procedures (genioplasty, alloplastic implants) with satisfactory results. However, despite achieving skeletal symmetry, noticeable facial asymmetry may persist.This study was performed in 45 patients (29 women and 16 men) operated between December 2012 and June 2014. All patients were affected by maxilla-mandibular asymmetry and underwent orthognatic surgery for hard tissue correction of the deformity...
October 2016: Acta Otorhinolaryngologica Italica
https://www.readbyqxmd.com/read/27955955/what-s-in-this-crab-mri-providing-high-resolution-three-dimensional-insights-into-recent-finds-and-historical-collections-of-brachyura
#19
Stephanie Köhnk, Jürgen Baudewig, Dirk Brandis, Susann Boretius
Museum collections may be viewed as a unique window onto the diversity and the functional evolution of species on earth. Detailed information about the inner structure of many precious collectors' items is, however, difficult to gain without destruction of the objects of interest. Here we applied magnetic resonance imaging (MRI) to freshly fixed as well as century-old museum specimens and compared the effects of fixative (formalin, ethanol, mercury chloride) on the image quality. Three-dimensional (3D) reconstruction of MRI was exemplarily used to non-invasively visualize anatomical structures of the brachyuran species Ilia nucleus, Ozius guttatus and Austinograea williamsi...
November 24, 2016: Zoology: Analysis of Complex Systems, ZACS
https://www.readbyqxmd.com/read/27955686/nutrigenomic-effects-of-glucosinolates-on-liver-muscle-and-distal-kidney-in-parasite-free-and-salmon-louse-infected-atlantic-salmon
#20
Stanko Skugor, Helle Jodaa Holm, Anne Kari Bjelland, Jorge Pino, Øystein Evensen, Aleksei Krasnov, Simon Wadsworth
BACKGROUND: Reduction of Lepeophtheirus salmonis infection in Atlantic salmon achieved by glucosinolates (GLs) from Brassica plants was recently reported. However, wider application of functional feeds based on GLs requires better knowledge of their positive and adverse effects. METHODS: Liver, distal kidney and muscle transcriptomes of salmon exposed to the extreme dose of GLs were profiled by microarray, while qPCR analysis followed up selected hepatic and renal responses under the extreme and moderate GLs dose during the L...
December 12, 2016: Parasites & Vectors
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