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https://www.readbyqxmd.com/read/28334876/pdgfrb-gain-of-function-mutations-in-sporadic-infantile-myofibromatosis
#1
Florence A Arts, Raf Sciot, Bénédicte Brichard, Marleen Renard, Audrey de Rocca Serra, Guillaume Dachy, Laura A Noël, Amélie I Velghe, Christine Galant, Maria Debiec-Rychter, An Van Damme, Miikka Vikkula, Raphaël Helaers, Nisha Limaye, Hélène A Poirel, Jean-Baptiste Demoulin
Infantile myofibromatosis is one of the most prevalent soft tissue tumors of infancy and childhood. Multifocal nodules with visceral lesions are associated with a poor prognosis. A few familial cases have been linked to mutations in various genes including PDGFRB. In this study, we sequenced PDGFRB, which encodes a receptor tyrosine kinase, in 16 cases of myofibromatosis or solitary myofibroma. Mutations in the coding sequence of PDGFRB were identified in 6 out of 8 patients with the sporadic multicentric form of the disease and in 1 out of 8 patients with isolated myofibroma...
March 3, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28331901/isolated-port-site-recurrence-of-node-negative-clinical-stage-ib1-cervical-adenocarcinoma
#2
Uma Deshmukh, Molly McAdow, Jonathan Black, Pei Hui, Masoud Azodi
INTRODUCTION: Port site metastasis after laparoscopic surgery for cervical cancer is a rare phenomenon. METHODS: We present a case report of isolated port site recurrence 4 years following laparoscopic surgery in a patient with node-negative, clinical stage IB1 cervical adenocarcinoma. RESULTS: A 44 year-old woman presented with a necrotic cervical lesion. A biopsy of the mass revealed invasive endocervical adenocarcinoma. She underwent a robotic-assisted radical hysterectomy, bilateral salpingectomy, and pelvic lymph node dissection with bilateral oophoropexy...
May 2017: Gynecologic Oncology Reports
https://www.readbyqxmd.com/read/28330704/an-update-on-non-extremity-soft-tissue-sarcomas
#3
S J Ford, L M Almond, A Gronchi
The management of soft tissue sarcoma is challenging and varied. Centralisation of management in high volume specialist centres has revolutionised outcomes. Surgery remains the mainstay of treatment and is currently the only potentially curative therapy. Retroperitoneal soft tissue sarcoma presents a particular challenge to the surgical oncologist and the concept of extended resection to include surrounding expendable organs taken en bloc with the tumour has now largely been adopted. The use of neoadjuvant and adjuvant therapies for retroperitoneal soft tissue sarcoma is still to be established, although they are employed on a case-specific basis...
March 19, 2017: Clinical Oncology: a Journal of the Royal College of Radiologists
https://www.readbyqxmd.com/read/28328599/burkitt-lymphoma-in-adult-with-atypical-clinical-presentation-primarily-involving-the-oral-soft-tissue
#4
Natália Galvão Garcia, Moacyr Tadeu Vicente Rodrigues, Rodrigo Queiroz Aleixo, Denise Tostes Oliveira
Non-Hodgkin lymphoma is the second most common neoplasm of the head and neck after squamous cell carcinoma. However, it accounts for only 3.5% of all malignancies of the oral cavity. Oral lesions are often a component of disseminated disease process that may involve regional lymph nodes or may at times represent the primary extra nodal form of the disease. Although, isolated oral lymphoma in adults is extremely rare, this paper presents a patient with Burkitt lymphoma in an adult male with atypical clinical presentation primarily involving the oral soft tissue...
March 21, 2017: Journal of Craniofacial Surgery
https://www.readbyqxmd.com/read/28327074/successful-treatment-of-mandibular-nonunion-with-cortical-allograft-cancellous-autograft-and-locking-titanium-miniplates-in-a-dog
#5
Christopher J Snyder, Jason A Bleedorn, Jason W Soukup
Discontinuities of the mandible can occur for a variety of reasons including primary pathology of bone, pathologic fracture secondary to periodontal disease, and segmental resection for the treatment of neoplasia. Surgical intervention is necessary in many cases to establish normal occlusion and normal mandibular function. Rigid stabilization and treatment of these defects can be challenging due to the limited availability of bone for fixation as well as limited soft tissue coverage. This case report describes successful treatment of a nonunion fracture using cortical allograft and locking titanium miniplates...
September 2016: Journal of Veterinary Dentistry
https://www.readbyqxmd.com/read/28325766/staphylococcal-%C3%AE-toxin-modulates-human-aortic-endothelial-cell-and-platelet-function-through-sphingomyelinase-and-biofilm-ligase-activities
#6
Alfa Herrera, Katarina Kulhankova, Vijay K Sonkar, Sanjana Dayal, Aloysius J Klingelhutz, Wilmara Salgado-Pabón, Patrick M Schlievert
Staphylococcus aureus causes many infections, such as skin and soft tissue, pneumonia, osteomyelitis, and infective endocarditis (IE). IE is an endovascular infection of native and prosthetic valves and the lining of the heart; it is characterized by the formation of cauliflower-like "vegetations" composed of fibrin, platelets, other host factors, bacteria, and bacterial products. β-Toxin is an S. aureus virulence factor that contributes to the microorganism's ability to cause IE. This cytolysin has two enzymatic activities: sphingomyelinase (SMase) and biofilm ligase...
March 21, 2017: MBio
https://www.readbyqxmd.com/read/28321692/oncologic-outcome-and-quality-of-life-after-hindquarter-amputation-for-sarcoma-is-it-worth-it
#7
Winan J van Houdt, Anthony M Griffin, Jay S Wunder, Peter C Ferguson
BACKGROUND AND OBJECTIVE: Hindquarter amputations for bone or soft tissue sarcoma cause a high degree of disability. The goal of this study was to analyze oncologic outcome and quality of life after resection in order to better select patients who are more likely to benefit from this operation. METHODS: Patients treated with a hindquarter amputation between 1989 and 2015 for a bone or soft tissue sarcoma were selected from our database. Clinical and histopathological features were analyzed for their prognostic value using Kaplan-Meier and Cox proportional hazard analysis...
March 20, 2017: Annals of Surgical Oncology
https://www.readbyqxmd.com/read/28321371/anatomic-variations-in-pituitary-endocrinopathies-implications-for-the-surgical-corridor
#8
Edward C Kuan, Frederick Yoo, Won Kim, Karam W Badran, Thomas E Heineman, Ali R Sepahdari, Marvin Bergsneider, Marilene B Wang
Objectives/Hypotheses Functioning pituitary adenomas may produce endocrinopathies such as acromegaly and Cushing syndrome. Both conditions lead to characteristic anatomic variations as a result of hormonally induced abnormal soft tissue deposition. We evaluate the anatomic differences between acromegalics and Cushing disease patients and compare these dimensions to controls. Design Radiographic review of preoperative magnetic resonance images (MRI) of the pituitary gland. Setting Tertiary academic medical center...
April 2017: Journal of Neurological Surgery. Part B, Skull Base
https://www.readbyqxmd.com/read/28319505/18f-naf-pet-ct-in-extensive-melorheostosis-of-the-axial-and-appendicular-skeleton-with-soft-tissue-involvement
#9
Georgios Z Papadakis, Smita Jha, Timothy Bhattacharyya, Corina Millo, Tsang-Wei Tu, Ulas Bagci, Kostas Marias, Apostolos H Karantanas, Nicholas J Patronas
Melorheostosis is a rare, nonhereditary, benign, sclerotic bone dysplasia with no sex predilection, typically occurring in late childhood or early adulthood, which can lead to substantial functional morbidity, depending on the sites of involvement. We report on a patient with extensive melorheostosis in the axial and appendicular skeleton, as well as in the soft tissues, who was evaluated with whole-body F-NaF PET/CT scan. All melorheostotic lesions of the skeleton and of the ossified soft-tissue masses demonstrated intensely increased F-NaF activity, suggesting the application of this modality in assessing and monitoring the disease activity...
March 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28319502/remitting-seronegative-symmetrical-synovitis-with-pitting-edema-appearance-on-fdg-pet-ct
#10
Jianjie Wang, Chaoyu Pu, Zhenchang Wang, Jigang Yang
Remitting seronegative symmetrical synovitis with pitting edema (RS3PE) is a rare condition in the elderly and can appear as a first presentation of various types of rheumatic and malignant diseases. We presented a 62-year-old man with the diagnosis of RS3PE based on the clinical sign and laboratory data. Because of the possibility of associated malignancies in RS3PE, FDG PET/CT was performed to exclude occult tumors. The images showed multiple, symmetrically, diffusely increased F-FDG uptake in the soft tissue around joints and bones in the shoulders, hips, knees, and ankles...
March 17, 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/28319067/the-histone-demethylase-kdm3a-and-its-downstream-target-mcam-promote-ewing-sarcoma-cell-migration-and-metastasis
#11
M Sechler, J K Parrish, D K Birks, P Jedlicka
Ewing Sarcoma is the second most common solid pediatric malignant neoplasm of bone and soft tissue. Driven by EWS/Ets, or rarely variant, oncogenic fusions, Ewing Sarcoma is a biologically and clinically aggressive disease with a high propensity for metastasis. However, the mechanisms underpinning Ewing Sarcoma metastasis are currently not well understood. In the present study, we identify and characterize a novel metastasis-promotional pathway in Ewing Sarcoma, involving the histone demethylase KDM3A, previously identified by our laboratory as a new cancer-promoting gene in this disease...
March 20, 2017: Oncogene
https://www.readbyqxmd.com/read/28318191/a-fatal-clostridium-perfringens-infection-with-hemolysis-after-chemotherapy-in-an-adolescent
#12
Musa G Kukul, Kısmet Ciki, Eda Karadag-Oncel, Ali B Cengiz, Baris Kuskonmaz, Betul Tavil, Selman Kesici
Gas gangrene, clostridial myonecrosis, is one of the most serious infectious diseases, characterized by rapidly progressive destruction of deep soft tissues and production of gas within the tissues. We presented a case of fatal spontaneous gas gangrene due to Clostridium perfringens in a patient with acute lymphoblastic leukemia during remission induction chemotherapy phase.
April 1, 2017: Archivos Argentinos de Pediatría
https://www.readbyqxmd.com/read/28317561/introduction-to-clinical-microbiology-for-the-general-dentist
#13
REVIEW
Thomas E Rams, Arie J van Winkelhoff
Clinical oral microbiology may help dental professionals identify infecting pathogenic species and evaluate their in vitro antimicrobial susceptibility. Saliva, dental plaque biofilms, mucosal smears, abscess aspirates, and soft tissue biopsies are sources of microorganisms for laboratory testing. Microbial-based treatment end points may help clinicians better identify patients in need of additional or altered dental therapies before the onset of clinical treatment failure, and help improve patient oral health outcomes...
April 2017: Dental Clinics of North America
https://www.readbyqxmd.com/read/28304005/cubital-tunnel-syndrome-secondary-to-gouty-tophi-a-case-report
#14
Hatice Resorlu, Coskun Zateri, Ayla Akbal, Ferhat Gokmen, Gurhan Adam, Serhad Bilim, Emre Bozkurt
Gout is a chronic rheumatic disease resulting from accumulation of monosodium urate crystals in tissues. The most important risk factor for the disease is hyperuricaemia. Precipitation of uric acid in the joint in the form of monosodium urate crystals is the main factor responsible for triggering attacks of arthritis. Tophi occur as a result of urate crystals that precipitate into joints and surrounding tissues. Tophi can erode the bone where they are located and cause compression in soft tissue due to a mass effect...
March 2017: JPMA. the Journal of the Pakistan Medical Association
https://www.readbyqxmd.com/read/28303476/a-review-of-clinical-cases-of-infection-with-photorhabdus-asymbiotica
#15
John G Gerrard, Robert P Stevens
The three recognised Photorhabdus species are bioluminescent Gram-negative bacilli of the family Enterobacteriaceae. They are all pathogenic to insects and form a symbiotic relationship with nematodes of the genus Heterorhabditis. P. luminescens and P. temperata are both harmless to humans whilst P. asymbiotica, on the other hand, is a human pathogen that is a symbiont of the newly described nematode vector, Heterorhabditis gerrardi. In this chapter, we review the epidemiological and clinical features of eighteen human cases of P...
March 17, 2017: Current Topics in Microbiology and Immunology
https://www.readbyqxmd.com/read/28301584/diagnostic-accuracy-and-added-value-of-dual-energy-subtraction-radiography-compared-to-standard-conventional-radiography-using-computed-tomography-as-standard-of-reference
#16
Katharina Martini, Marco Baessler, Stephan Baumueller, Thomas Frauenfelder
PURPOSE: To retrospectively evaluate diagnostic performance of dual-energy subtraction radiography (DESR) for interpretation of chest radiographs compared to conventional radiography (CR) using computed tomography (CT) as standard of reference. MATERIAL AND METHODS: A total of 199 patients (75 female, median age 67) were included in this institutional review board (IRB)-approved clinical trial. All patients were scanned in posteroanterior and lateral direction with dual-shot DE-technique...
2017: PloS One
https://www.readbyqxmd.com/read/28300904/giant-oral-lipoma-a-rare-entity
#17
José Burgos Ponce, Gustavo Zanna Ferreira, Paulo Sérgio da Silva Santos, Vanessa Soares Lara
Lipomas are very common benign slow-growing soft tissue neoplasms composed of mature adipose tissue mostly diagnosed in the fifth decade of life. These tumors rarely present in the oral cavity, representing less than approximately 5% of all benign mouth tumors. They are usually less than 2cm in size and etiology remains unclear. We report a young male patient presenting with a giant lipoma in the buccal mucosa. Histopathology revealed a large area of mature fat cells consistent with conventional lipoma and an area of the mucosal lining of the lesion suggestive of morsicatio buccarum...
September 2016: Anais Brasileiros de Dermatologia
https://www.readbyqxmd.com/read/28299457/current-trends-of-human-infections-and-antibiotic-resistance-of-the-genus-shewanella
#18
REVIEW
K Yousfi, S Bekal, V Usongo, A Touati
Shewanella spp. are commonly known as environmental bacteria and are most frequently isolated from aquatic areas. Currently, diseases syndromes and multidrug resistance have increasingly been reported in the genus Shewanella. Some species are associated with various infections, such as skin and soft tissue infections, as well as bacteremia. Generally, these bacteria are opportunistic and mostly affect people with an impaired immune system. This genus is also a probable vehicle and progenitor of antibiotic resistance genes...
March 15, 2017: European Journal of Clinical Microbiology & Infectious Diseases
https://www.readbyqxmd.com/read/28297758/-role-of-master-transcriptional-factor-prox-1-in-lymphatic-endothelial-differentiation-of-kaposiform-hemangioendothelioma
#19
Z Y Ke, S J Yang
Objective: To analyze the clinical and pathological features of Kaposiform hemangioendothelioma (KHE), and to investigate the role of master transcriptional factor Prox-1 in the regulation of lymphatic differentiation. Methods: Nine cases of KHE (during the period from October 2009 to June 2016) were collected with clinical and pathological data. H&E stained section review and immunohistochemietry using the Dako EnVision method were performed. Results: There were 6 female and 3 male patients with age ranging from 2 months to 8 years (median 3 years and 4 months)...
March 8, 2017: Zhonghua Bing Li Xue za Zhi Chinese Journal of Pathology
https://www.readbyqxmd.com/read/28296993/clinical-characteristics-and-outcomes-of-patients-with-cellulitis-requiring-intensive-care
#20
Duncan R Cranendonk, Lonneke A van Vught, Maryse A Wiewel, Olaf L Cremer, Janneke Horn, Marc J Bonten, Marcus J Schultz, Tom van der Poll, W Joost Wiersinga
Importance: Cellulitis is a commonly occurring skin and soft tissue infection and one of the most frequently seen dermatological diseases in the intensive care unit (ICU). However, clinical characteristics of patients with cellulitis requiring intensive care treatment are poorly defined. Necrotizing fasciitis is often confused for cellulitis at initial presentation and is considered to be more severe and thus has previously been described in more detail. Objective: To describe the clinical presentation and outcomes of patients with ICU-necessitating cellulitis and to compare them with patients with necrotizing fasciitis...
March 15, 2017: JAMA Dermatology
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