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Fibromatosis

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https://www.readbyqxmd.com/read/29455674/aggressive-fibromatosis-in-the-infratemporal-fossa-presenting-as-trismus-a-case-report
#1
Sunil Munakomi
BACKGROUND: Here we report a very rare entity of an infratemporal region aggressive fibromatosis in a 23-year-old Tharu man who had presented with the symptoms of painless but progressive trismus. CASE PRESENTATION: We describe a case of aggressive fibromatosis in a 23-year-old Tharu man. Radiological imaging as well as an immunohistochemistry panel from a biopsy indicated a diagnosis of an aggressive fibromatosis. Since there was no aggravation in his trismus following surgery and because of his poor socioeconomic status, he was advised to attend regular follow-up visits without any adjuvant therapy...
February 19, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29439260/nephrocalcinosis-in-amelogenesis-imperfecta-caused-by-the-fam20a-mutation
#2
Mine Koruyucu, Figen Seymen, Genco Gencay, Koray Gencay, Elif Bahar Tuna, Teo Jeon Shin, Hong-Keun Hyun, Young-Jae Kim, Jung-Wook Kim
BACKGROUND/AIMS: Enamel-renal syndrome is characterized by nephrocalcinosis, enamel defects, gingival hyperplasia and eruption failures. It has been recently identified that recessive mutations in the FAM20A gene result in amelogenesis imperfecta (AI)-gingival fibromatosis. The aim of this research to determine whether AI patients with known -FAM20A mutations also have nephrocalcinosis. METHODS: Complete oral and radiological examinations were performed for all participating family members...
February 13, 2018: Nephron
https://www.readbyqxmd.com/read/29435271/gene-expression-profiling-and-bioinformatics-analysis-of-hereditary-gingival-fibromatosis
#3
Lei Fang, Yu Wang, Xuejun Chen
Hereditary gingival fibromatosis (HGF) is a benign, non-hemorrhagic and fibrous gingival overgrowth that may cover all or part of the teeth. It typically interferes with speech, lip closure and chewing, and can also be a psychological burden that affects the self-esteem of patients. Owing to high genetic heterogeneity, genetic testing to confirm diagnosis is not justified. It is therefore important to identify key signature genes and to understand the molecular mechanisms underlying HGF. The aim of the present study was to determine HGF-related genes and to analyze these genes through bioinformatics methods...
February 2018: Biomedical Reports
https://www.readbyqxmd.com/read/29424348/mesenteric-fibromatosis-a-rare-cause-of-peritonitis
#4
E Pl Ng, S Y Kwok, K F Lok, M P Chow, P Yy Lau
No abstract text is available yet for this article.
February 2018: Hong Kong Medical Journal, Xianggang Yi Xue za Zhi
https://www.readbyqxmd.com/read/29413661/differential-diagnosis-of-benign-spindle-cell-lesions
#5
REVIEW
Gaetano Magro
Spindle cell lesions of the breast cover a wide spectrum of diseases ranging from reactive tumor-like lesions to high-grade malignant tumors. The recognition of the benign spindle cell tumor-like lesions (nodular fasciitis; reactive spindle cell nodule after biopsy, inflammatory pseudotumor/inflammatory myofibroblastic tumor; fascicular variant of pseudoangiomatous stromal hyperplasia) and tumors (myofibroblastoma, benign fibroblastic spindle cell tumor, leiomyoma, schwannoma, spindle cell lipoma, solitary fibrous tumor, myxoma) is crucial to avoid confusion with morphologically similar but more aggressive bland-appearing spindle cell tumors, such as desmoid-type fibromatosis, low-grade (fibromatosis-like) spindle cell carcinoma, low-grade fibrosarcoma/myofibroblastic sarcoma and dermatofibrosarcoma protuberans...
March 2018: Surgical Pathology Clinics
https://www.readbyqxmd.com/read/29409537/complete-resection-of-a-rectus-abdominis-muscle-invaded-by-desmoid-tumors-and-subsequent-management-with-an-abdominal-binder-a-case-report
#6
Tatsuhiko Ogawa
BACKGROUND: Desmoid-type fibromatosis is characterized by desmoid tumors, which are benign soft tissue tumors that can be locally aggressive but typically do not metastasize. Desmoid tumors can manifest anywhere in the body, and those in the abdominal cavity account for approximately 30 to 50% of all such tumors. Complete resection with free margins has been the standard treatment, but non-surgical therapies have been implemented recently. However, if tumors are strongly invasive and/or persistently recur, radical surgical resection with free margins remains the primary treatment...
February 7, 2018: Journal of Medical Case Reports
https://www.readbyqxmd.com/read/29398861/unusual-presentation-of-familial-gingival-fibromatosis-among-male-siblings
#7
Margabandhu Manoj, Renu Garg, Kennedy Babu
Gingival enlargement refers to any increase in the size of normal gingiva. The gingiva may be enlarged in response to various interactions between the host and the environment. It can be of various types including inflammatory, drug induced, associated with systemic disease, neoplastic, false, and idiopathic. Idiopathic gingival enlargement is a rare condition of undetermined etiology. The enlargement can be localized or generalized to entire dentition and is usually associated with the emergence of the teeth into the oral cavity and may regress after extraction...
March 2017: Journal of Indian Society of Periodontology
https://www.readbyqxmd.com/read/29384266/pazopanib-therapy-for-desmoid-tumors-in-adolescent-and-young-adult-patients
#8
Laura Agresta, Hee Kim, Brian K Turpin, Rajaram Nagarajan, Alexandra Plemmons, Sara Szabo, Roshni Dasgupta, Joel I Sorger, Joseph G Pressey
BACKGROUND: Desmoid tumors/aggressive fibromatosis (DT/AF) lack a reliably effective medical therapy. Surgical resection may be morbid and does not preclude recurrence. Radiation may carry severe late effects, particularly detrimental in young patients. At our institution, we recently observed promising results with pazopanib therapy for DT/AF in adolescent and young adult (AYA) patients. PROCEDURE: Retrospective single-institution chart review. RESULTS: Six DT/AF patients of 3-21 years with previously treated DT/AF received pazopanib; 31 DT/AF patients received established therapies only...
January 31, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29377717/impact-of-pathologist-involvement-in-sarcoma-and-rare-tumor-patient-support-groups-on-facebook-a-survey-of-542-patients-and-family-members
#9
Jasmine Haller, Marjorie Parker David, Nathan E Lee, Sara C Shalin, Jerad M Gardner
CONTEXT: - Patients with rare tumors have difficulty finding reliable information about their disease. Facebook patient support groups allow patients to educate one another. OBJECTIVE: - To investigate how these patients perceive the value of pathologists, both in Facebook groups and real-world patient care. DESIGN: - Survey links were posted in 12 Facebook patient groups: 6 with an active pathologist member (angiosarcoma, epithelioid hemangioendothelioma, epithelioid sarcoma, dermatofibrosarcoma protuberans [×2], and desmoid fibromatosis), and 6 without "active" pathologist involvement (aggressive angiomyxoma, chondrosarcoma, Ewing sarcoma, leiomyosarcoma, liposarcoma, and osteosarcoma)...
January 29, 2018: Archives of Pathology & Laboratory Medicine
https://www.readbyqxmd.com/read/29375904/chest-wall-a-structure-underestimated-in-ultrasonography-part-iii-neoplastic-lesions
#10
REVIEW
Andrzej Smereczyński, Katarzyna Kołaczyk, Elżbieta Bernatowicz
Chest wall neoplasms mainly include malignancies, metastatic in particular. Differential diagnosis should include clinical data; tumor location, extent, delineation; the degree of homogeneity; the presence of calcifications; the nature of bone destruction and the degree of vascularization. The aim of the paper is to present both the benefits and limitations of ultrasound for the diagnosis of chest wall neoplasms. The neoplastic process may be limited to the chest wall; it may spread from the chest wall into the intrathoracic structures or spread from the inside of the chest towards the chest wall...
December 2017: Journal of Ultrasonography
https://www.readbyqxmd.com/read/29375894/screening-detected-desmoid-tumor-of-the-breast-findings-at-conventional-imaging-and-digital-breast-tomosynthesis
#11
Tatjana Samardzic, Jon Lømo, Per Skaane
Desmoid tumor of the breast is a rare benign entity that usually is mistaken for carcinoma clinically and radiologically. We report two cases of desmoid tumor of the breast detected by mammography screening using digital breast tomosynthesis (DBT). The larger tumor was detected at both full-field digital mammography (FFDM) and DBT. The smaller desmoid tumor, however, was identified only at tomosynthesis. Mammographic and ultrasonographic findings at diagnostic work-up were consistent with carcinoma of the breast...
January 2018: Acta Radiologica Open
https://www.readbyqxmd.com/read/29368261/apc-mosaicism-in-a-young-woman-with-desmoid-type-fibromatosis-and-familial-adenomatous-polyposis
#12
Astrid Tenden Stormorken, Thomas Berg, Ole-Jacob Norum, Toto Hølmebakk, Kristin Aaberg, Sonja E Steigen, Eli Marie Grindedal
Familial adenomatous polyposis (FAP) is usually caused by germline mutations in the adenomatous polyposis coli (APC) gene. The classic form is characterized by hundreds to thousands of adenomas in the colorectum and early onset colorectal cancer (CRC) if left untreated. FAP is also associated with multiple extra-colonic manifestations such as gastroduodenal polyps, osteomas, epidermoid cysts, fibromas and desmoids. Most desmoid tumours in FAP patients occur intra-abdominally. Approximately 15-20% of the APC mutations are de novo mutations...
January 24, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29357038/uterine-fibroid-embolization-efficacy-and-safety-15%C3%A2-years-experience-in-an-elevated-turnout-rate-center
#13
Carmine Di Stasi, Alessandro Cina, Francesco Rosella, Andrea Paladini, Sonia Amoroso, Daniela Romualdi, Riccardo Manfredi, Cesare Colosimo
OBJECTIVE: To evaluate effectiveness and safety of UFE as alternative to surgery, in treatment of uterine fibromatosis. METHODS/MATERIALS: 255 patients (aged 26-55) with symptomatic UF, indication for surgery, followed in our center (2000-2014), single or multiple fibroids, pain and/or functional/compressive disorders, underwent embolization: injection of PVA particles (150-900 μm) from distal portion of uterine arteries (ascending section). Primary end-point: flow-stop distally to injection site, disappearance of lesion design, preservation of flow in main trunk of UA...
January 22, 2018: La Radiologia Medica
https://www.readbyqxmd.com/read/29330550/a-metabolomics-pilot-study-on-desmoid-tumors-and-novel-drug-candidates
#14
Kelly A Mercier, Mushriq Al-Jazrawe, Raymond Poon, Zachery Acuff, Benjamin Alman
Desmoid tumors (aggressive fibromatosis) are locally invasive soft tissue tumors that lack the ability to metastasize. There are no directed therapies or standard treatment plan, and chemotherapeutics, radiation, and surgery often have temporary effects. The majority of desmoid tumors are related to T41A and S45F mutations of the beta-catenin encoding gene (CTNNB1). Using broad spectrum metabolomics, differences were investigated between paired normal fibroblast and desmoid tumor cells from affected patients...
January 12, 2018: Scientific Reports
https://www.readbyqxmd.com/read/29326344/sternocleidomastoid-tumour-in-neonate-fibromatosis-colli
#15
Joana Cunha Oliveira, Margarida S Abreu, Fernanda Marta Gomes
No abstract text is available yet for this article.
January 10, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29325232/expression-of-cd163-in-hereditary-gingival-fibromatosis-a-possible-association-with-tgf-%C3%AE-1
#16
Hala H Hazzaa, Ossama M Gouda, Naglaa M Kamal, Shereen Abdel Moula Ali, Marwa A M ElShiekh, Marwa M Tawfik
BACKGROUND: Although several studies have discussed some of the molecular and cellular changes associated with hereditary gingival fibromatosis (HGF), its pathogenesis is still largely unclear. This study was directed to detect and outline the degree of relationship between the immunophenotyped macrophages (M2) expressing CD163 and TGF-β1 in patients with gingival overgrowth due to HGF. METHODS: Biopsies from 20 patients suffering from HGF and 20 normal control subjects were harvested, histologically and immunohistochemically stained then, analyzed and statistically compared and correlated for CD163 immunoexpression and TGF-β1...
January 11, 2018: Journal of Oral Pathology & Medicine
https://www.readbyqxmd.com/read/29319280/infantile-digital-fibromatosis-like-tumor-of-adult
#17
Martina Lambertini, Michela Magnano, Pier A Fanti, Carlotta Baraldi, Annalisa Patrizi, Federico Bardazzi
No abstract text is available yet for this article.
February 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29316163/systemic-therapy-of-aggressive-fibromatosis-in-children-and-adolescents-report-of-the-cooperative-weichteilsarkom-studiengruppe-cws
#18
Monika Sparber-Sauer, Guido Seitz, Thekla von Kalle, Christian Vokuhl, Ivo Leuschner, Monika Scheer, Marc Münter, Gustaf Ljungman, Stefan S Bielack, Felix Niggli, Ruth Ladenstein, Thomas Klingebiel, Joerg Fuchs, Ewa Koscielniak
BACKGROUND: Treatment algorithms for patients with aggressive fibromatosis (AF) are challenging. There are limited data available about the use of systemic therapy (ST) in pediatric patients with AF. METHODS: Patient-, tumor-, and treatment-related factors of 90 children and adolescents with AF treated on multiple prospective trials of the Cooperative Weichteilsarkom Studiengruppe (1981-2015) were analyzed with focus on response and outcome of ST. RESULTS: Median age was 9...
January 5, 2018: Pediatric Blood & Cancer
https://www.readbyqxmd.com/read/29310463/plantar-fibromatosis-pathophysiology-surgical-and-nonsurgical-therapies-an-evidence-based-review
#19
Paul Carroll, Robert M Henshaw, Caitlin Garwood, Katherine Raspovic, Dhruv Kumar
Plantar fibromatosis (morbus Ledderhose), an extra-abdominal desmoid tumor of the plantar foot, is a rare benign hyperproliferative disorder of the plantar fascia with an unknown etiology. The main clinical characteristics include slow growing nodules on the medial and central bands of the plantar fascia, which may become painful and negatively affect ambulation. Most established conservative therapies today target symptomatic relief. As symptoms progress, therapies such as injections, shockwave ablation, radiation, and/or surgery may be required...
January 1, 2018: Foot & Ankle Specialist
https://www.readbyqxmd.com/read/29310354/mesenteric-fibromatosis-after-resection-for-gastrointestinal-stromal-tumor-of-stomach-a-case-report
#20
Yiming Chu, Qingqu Guo, Dan Wu
RATIONALE: Gastrointestinal stromal tumor and mesenteric fibromatosis are rare mesenchymal tumors. Coexistence of these two diseases is uncommon, with only a few anecdotal reports of individuals. PATIENT CONCERNS: Clinical data and treatment of a 43-year-old man with subsequent mesenteric fibromatosis from gastrointestinal stromal tumor are summarized. The Ethics Committee of The Second Affiliated Hospital, College of Medicine, Zhejiang University approved this study, and the patient provided written informed consent form...
December 2017: Medicine (Baltimore)
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