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https://www.readbyqxmd.com/read/29220303/locally-aggressive-connective-tissue-tumors
#1
Mrinal M Gounder, David M Thomas, William D Tap
In this review, we highlight the complexities of the natural history, biology, and clinical management of three intermediate connective tissue tumors: desmoid tumor (DT) or aggressive fibromatosis, tenosynovial giant cell tumor (TGCT) or diffuse-type pigmented villonodular synovitis (dtPVNS), and giant cell tumor of bone (GCTB). Intermediate histologies include tumors of both soft tissue and bone origin and are locally aggressive and rarely metastatic. Some common aspects to these tumors are that they can be locally infiltrative and/or impinge on critical organs, which leads to disfigurement, pain, loss of function and mobility, neurovascular compromise, and occasionally life-threatening consequences, such as mesenteric, bowel, ureteral, and/or bladder obstruction...
December 8, 2017: Journal of Clinical Oncology: Official Journal of the American Society of Clinical Oncology
https://www.readbyqxmd.com/read/29202999/epithelioid-sarcoma-of-the-plantar-fascia-mimicking-morbus-ledderhose-a-severe-pitfall-for-clinical-and-histopathological-misinterpretation
#2
Andreas Toepfer, Norbert Harrasser, Florian Dreyer, Carolin Mogler, Markus Walther, Rüdiger von Eisenhart-Rothe
Plantar fibromatosis, also known as Morbus Ledderhose, is a well known and frequently encountered disorder of the planta pedis. When conservative treatment fails, surgical therapy with complete resection is the therapeutical procedure of choice. Soft tissue sarcoma is a heterogeneous and rare malignant disease of the musculoskeletal system with over 50 histopathological subtypes which can potentially arise in any localization but is most commonly found at the extremities. Here, we report the case of an epithelioid sarcoma of the sole of the foot which was initially and repeatedly clinically and histopathologically misinterpreted as plantar fibromatosis, receiving insufficient resection and subsequently ending in amputation of the lower leg...
December 2017: Foot and Ankle Surgery: Official Journal of the European Society of Foot and Ankle Surgeons
https://www.readbyqxmd.com/read/29188618/-identification-of-novel-compound-heterozygous-mutations-in-the-antxr2-gene-in-a-chinese-patient-with-juvenile-hyaline-fibromatosis
#3
Yongling Zhang, Ru Li, Yan Li, Can Liao
OBJECTIVE: To identify pathogenic mutations of ANTXR2 gene in a patient with juvenile hyaline fibromatosis. METHODS: Genomic DNA was extracted from peripheral venous blood sample from the patient. All coding exons (exons 1-17) and splicing sites of the ANTXR2 gene were amplified with PCR. Potential mutations were detected with direct sequencing of the PCR products. 100 unrelated healthy subjects were used as the controls. CLUSTALX (1.81) was employed to analyze cross-species conservation of the mutant amino acid...
December 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/29181346/phalangeal-fracture-during-attempted-dupuytrens-release-following-clostridial-collagenase-injection-case-report
#4
Laura W Lewallen, Marco Rizzo
Introduction: Dupuytren's disease can be a challenging condition for both patients and surgeons. Injectable collagen clostridium histolyticum was approved for clinical use by the Food and Drug Administration in 2010. A number of side effects have been described. In this case report, we present a complication of a proximal phalanx fracture which occurred during attempted release post injection. To the best of our knowledge, this is the first reported case of this particular complication...
July 2017: Journal of Orthopaedic Case Reports
https://www.readbyqxmd.com/read/29170886/phase-ii-study-of-doxorubicin-and-thalidomide-in-patients-with-refractory-aggressive-fibromatosis
#5
Xin Liu, Huijie Wang, Xianghua Wu, Xiaonan Hong, Zhiguo Luo
Background To evaluate the efficacy and safety of doxorubicin (ADM) combined with thalidomide (THA) as a first-line treatment for patients with refractory aggressive fibromatosis (AF). Patients and Methods Eligible patients were treated with ADM 30 mg/m(2) on days 1-2 and THA 200 mg nightly on days 1-21 every 3 weeks for a maximum of six cycles. THA was then continued for a total of 1 year. The primary end point was response rate (RR). Results Fifteen patients were enrolled in the study. No patient had a complete response, but five patients had partial responses, resulting in a RR of 33%...
November 23, 2017: Investigational New Drugs
https://www.readbyqxmd.com/read/29143075/the-black-garland-sign-in-ovarian-fibromatosis
#6
REVIEW
Amilcar Diaz, Gail Yarmish, Morris Hayim
No abstract text is available yet for this article.
November 15, 2017: Abdominal Radiology
https://www.readbyqxmd.com/read/29130299/-role-of-vitamin-d-in-female-reproduction
#7
Vincenzo DE Leo, Valentina Cappelli, Giuseppe Morgante, Alessandra DI Sabatino
La vit. D, o calcitriolo, è stata identificata inizialmente nei primi anni '20 ed ha un ruolo chiave nella regolazione del metabolismo osseo, nell'omeostasi del calcio e del fosforo e nel promuovere la mineralizzazione ossea. Le azioni della vit. D sono mediante tramite un recettore nucleare (VDR), che è espresso in numerosi organi come l'intestino, l'osso e il rene, ma anche nelle gonadi, nel seno, nel pancreas, nel sistema cardiovascolare, nel cervello (microglia) e nelle cellule del sistema immunitario...
November 10, 2017: Minerva Ginecologica
https://www.readbyqxmd.com/read/29123587/local-recurrence-of-sporadic-mesenteric-fibromatosis-following-radical-surgery-attacking-the-proximal-jejunum
#8
Selçuk Gülmez, Ebubekir Gündeş, Aziz Serkan Senger, Orhan Uzun, Ulaş Aday, Hüseyin Çiyiltepe, Durmuş Ali Çetin, Emre Bozdağ, Kamuran Cumhur Değer, Erdal Polat
No abstract text is available yet for this article.
2017: Przegla̜d Gastroenterologiczny
https://www.readbyqxmd.com/read/29113152/effect-of-surgical-margins-on-prognosis-in-aggressive-fibromatosis-a-single-institutional-analysis-of-90-patients
#9
Kamran Harati, Anais Jaenisch, Björn Behr, Ole Goertz, Ali Harati, Tobias Hirsch, Ingo Stricker, Marcus Lehnhardt, Adrien Daigeler
The treatment of aggressive fibromatosis poses a therapeutic challenge in an interdisciplinary setting. The extent of surgical resection is still discussed controversially. The present retrospective analysis aimed to determine prognostic factors leading to recurrence. Between 2000 and 2014, 114 patients with aggressive fibromatosis were treated surgically at BG-University Hospital Bergmannsheil (Bochum, Germany). Univariate and multivariate analyses were restricted to 90 participants with information available on surgical margins at the initial procedure...
November 2017: Oncology Letters
https://www.readbyqxmd.com/read/29104234/dupuytren-s-and-ledderhose-diseases-in-a-family-with-lmna-related-cardiomyopathy-and-a-novel-variant-in-the-aste1-gene
#10
Michael V Zaragoza, Cecilia H H Nguyen, Halida P Widyastuti, Linda A McCarthy, Anna Grosberg
Dupuytren's disease (palmar fibromatosis) involves nodules in fascia of the hand that leads to flexion contractures. Ledderhose disease (plantar fibromatosis) is similar with nodules of the foot. While clinical aspects are well-described, genetic mechanisms are unknown. We report a family with cardiac disease due to a heterozygous LMNA mutation (c.736C>T, p.Gln246Stop) with palmar/plantar fibromatosis and investigate the hypothesis that a second rare DNA variant increases the risk for fibrotic disease in LMNA mutation carriers...
November 1, 2017: Cells
https://www.readbyqxmd.com/read/29103246/dupuytren-s-contracture-current-treatment-methods
#11
REVIEW
Guy Feldman, Nimrod Rozen, Guy Rubin
Dupuytren's disease is a common benign fibromatosis of the palmar and digital fascia. The exact pathophysiology and epidemiology of this condition have not been entirely identified. Pathologic fibrous bands cause a flexion contracture of the metacarpal phalangeal joints and proximal interphalangeal joint. Treatment includes fasciectomy, needle fasciotomy, and enzymatic fasciectomy.
October 2017: Israel Medical Association Journal: IMAJ
https://www.readbyqxmd.com/read/29097701/two-missense-mutations-in-kcnq1-cause-pituitary-hormone-deficiency-and-maternally-inherited-gingival-fibromatosis
#12
Johanna Tommiska, Johanna Känsäkoski, Lasse Skibsbye, Kirsi Vaaralahti, Xiaonan Liu, Emily J Lodge, Chuyi Tang, Lei Yuan, Rainer Fagerholm, Jørgen K Kanters, Päivi Lahermo, Mari Kaunisto, Riikka Keski-Filppula, Sanna Vuoristo, Kristiina Pulli, Tapani Ebeling, Leena Valanne, Eeva-Marja Sankila, Sirpa Kivirikko, Mitja Lääperi, Filippo Casoni, Paolo Giacobini, Franziska Phan-Hug, Tal Buki, Manuel Tena-Sempere, Nelly Pitteloud, Riitta Veijola, Marita Lipsanen-Nyman, Kari Kaunisto, Patrice Mollard, Cynthia L Andoniadou, Joel A Hirsch, Markku Varjosalo, Thomas Jespersen, Taneli Raivio
Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in KCNQ1, a gene previously implicated in the long QT interval syndrome. Kcnq1 is expressed in hypothalamic GHRH neurons and pituitary somatotropes...
November 3, 2017: Nature Communications
https://www.readbyqxmd.com/read/29096658/safety-and-efficacy-of-intralesional-steroid-injection-for-aggressive-fibromatosis
#13
Dumnoensun Pruksakorn, Sratwadee Lorsomradee, Areerak Phanphaisarn, Pimpisa Teeyakasem, Jeerawan Klangjorhor, Parunya Chaiyawat, Natapong Kosachunhanun, Jongkolnee Settakorn, Olarn Arpornchayanon
BACKGROUND: Treatment of recurrent aggressive fibromatosis (AF) following surgical resection is a clinical challenge. Non-steroidal anti-inflammatory drugs (NSAIDs) have been reported to be an effective option for controlling the disease. However, long-term NSAID use can result in unfavorable complications. This study was a trial of the use of intralesional steroid injection (ILSI) including investigation of safety margins and clinical outcomes of high-dose steroids for local use treatment of AF...
November 2, 2017: World Journal of Surgical Oncology
https://www.readbyqxmd.com/read/29095310/sonography-used-in-the-infantile-desmoid-fibromatosis-of-postcricoid-area-a-case-report
#14
Chunxia Xia, Qiang Zhu, Changli Yue, Minxia Hu, Pingdong Li, Zheng Li
RATIONALE: Infantile desmoid fibromatosis of the postcricoid area is a rare disease and is characterized by a proliferation of fibrous tissue with non-metastasis, local infiltration, and a high rate of recurrence after surgical resection. Currently, ultrasound is scarcely used in the hypopharynx and larynx area. PATIENT CONCERNS: A 4-year-old boy presented with hoarseness, deep voice and snoring for 2∼4 years without any surgical history. On sonography, the lesion was found in the postcricoid area, and the left larynx showed impaired mobility in real time observation...
November 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29075896/imaging-appearances-of-soft-tissue-tumors-of-the-pediatric-foot-review-of-a-15-year-experience-at-a-tertiary-pediatric-hospital
#15
REVIEW
Pablo Caro-Domínguez, Oscar M Navarro
Tumors of the foot are rare in children. In this review the authors illustrate radiographic, sonographic and MR imaging findings of foot soft-tissue tumors in children based on all cases presenting at a tertiary pediatric hospital during the 15-year period of 1999-2014. Among these cases there were 155 tumors of the foot - 72 of the bones and 83 of the soft tissues. Vascular malformations, fibromatosis and sarcomas were respectively the most frequent benign, intermediate and malignant soft-tissue tumors. Some tumors showed specific imaging findings...
November 2017: Pediatric Radiology
https://www.readbyqxmd.com/read/29058046/hyaline-fibromatosis-syndrome-juvenile-hyaline-fibromatosis-whole-body-mr-findings-in-two-siblings-with-different-subcutaneous-nodules-distribution
#16
Davide Castiglione, Maria Chiara Terranova, Dario Picone, Giuseppe Lo Re, Sergio Salerno
Hyaline fibromatosis syndrome (juvenile hyaline fibromatosis) is a rare, progressive, autosomal recessive disorder whose main hallmark is the deposition of amorphous hyaline material in soft tissues, with an evolutionary course and health impairment. It may present involvement of subcutaneous or periskeletal soft tissue, or may develop as a visceral infiltration entity with poor prognosis. Very few radiological data about this inherited condition have been reported, due to the extreme rarity of disease. We herein present a case of two siblings, affected by different severity of the disease, with different clinical features...
October 23, 2017: Skeletal Radiology
https://www.readbyqxmd.com/read/29056131/late-presentation-of-aggressive-fibromatosis-involving-head-neck-and-chest-wall
#17
Waseem M Hajjar, Amjad F AlShehri, Mohammed A Alessa, Sami A Al-Nassar
Fibromatosis is a rare, benign, slow-growing and locally infiltrative tumour, caused by uncontrolled proliferation of fibrous tissue arising from muscles, connective tissue, fasciae and aponeurosis. It is also called desmoid tumour, which is very rare pathology representing only 0.03% of all neoplasms in human and around 3% of all soft tissue tumours. It is locally aggressive and usually invades the surrounding structures and has a high recurrence rate, even after surgical complete resection, which should be the first line of treatment...
October 2017: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/29035994/prostate-specific-membrane-antigen-in-low-grade-fibromatosis
#18
Ramin Akbarian Aghdam, Masoumeh Hakiminejad, Hamidreza Hashemifard, Azadeh Rakhshan, Elahe Pirayesh
We report a case of fibromatosis demonstrating prostate-specific membrane antigen (PSMA)-positive scan. A 76-year-old man was under assessment because of rising prostate-specific antigen level. Bone scan showed abnormal soft tissue uptake of Tc-MDP adjacent to the right scapula, compatible with a mass in MRI, thereafter. Because of the unavailability of Ga-PSMA scan in our department and also high cost in other centers, the patient underwent Lu-PSMA for more assessment, which revealed PSMA-avid mass. Pathologic examination confirmed the diagnosis of low-grade fibromatosis...
December 2017: Clinical Nuclear Medicine
https://www.readbyqxmd.com/read/29026519/squamous-cell-carcinoma-arising-in-familial-gingival-fibromatosis-a-rare-case-report
#19
Dilasma Ghartimagar, Ujjwal Koirala, Arnab Ghosh, Manish Kiran Shrestha, Sushma Thapa, Raghavan Narasimhan, O P Talwar
Familial gingival fibromatosis is a rare hereditary condition due to chromosomal abnormality which can occur as an isolated disease or as part of a syndrome and has an incidence of 1:350 000. This condition leads to esthetic, functional, psychological and masticatory disturbance of the oral cavity. Here, we present a case of 21-year-old female with severe enlargement of gums in maxilla and mandible. Deciduous teeth were erupted at normal age but the permanent teeth in the oral cavity were not erupted. Her grandmother, father and younger sister were also affected with the same condition...
October 2017: Journal of Surgical Case Reports
https://www.readbyqxmd.com/read/28979721/desmoid-type-fibromatosis-a-case-report-with-an-unusual-etiology
#20
Syed Faisal Jafri, Obada Obaisi, Gerardo G Vergara, Joe Cates, Jaswinder Singh, Jennifer Feeback, Harathi Yandrapu
Desmoid type fibromatosis (DTF) is a rare, locally invasive, non-metastasizing soft tissue tumor. We report an interesting case of DTF involving the pancreatic head of a 54-year-old woman. She presented with intermittent dysphagia and significant weight loss within a 3-mo period. Laboratory findings showed mild elevation of transaminases, significant elevation of alkaline phosphatase and direct hyperbilirubinemia, indicating obstructive jaundice. Computerized tomography of the abdomen revealed a mass in the head of the pancreas, dilated common bile duct, and dilated pancreatic duct...
September 15, 2017: World Journal of Gastrointestinal Oncology
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