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https://www.readbyqxmd.com/read/27907099/analysis-of-a-mouse-skin-model-of-tuberous-sclerosis-complex
#1
Yanan Guo, John R Dreier, Juxiang Cao, Heng Du, Scott R Granter, David J Kwiatkowski
Tuberous Sclerosis Complex (TSC) is an autosomal dominant tumor suppressor gene syndrome in which patients develop several types of tumors, including facial angiofibroma, subungual fibroma, Shagreen patch, angiomyolipomas, and lymphangioleiomyomatosis. It is due to inactivating mutations in TSC1 or TSC2. We sought to generate a mouse model of one or more of these tumor types by targeting deletion of the Tsc1 gene to fibroblasts using the Fsp-Cre allele. Mutant, Tsc1ccFsp-Cre+ mice survived a median of nearly a year, and developed tumors in multiple sites but did not develop angiomyolipoma or lymphangioleiomyomatosis...
2016: PloS One
https://www.readbyqxmd.com/read/27837336/perivaginal-benign-masses-diagnosis-and-therapy-in-a-series-of-66-women
#2
Anna-Lena Liaci, Hans Boesmueller, Markus Huebner, Sara Yvonne Brucker, Christl Reisenauer
PURPOSE: Benign perivaginal masses (PVM) are relatively rare. The aim of this study is, to create a higher awareness for these entities and to point out reliable diagnostics and an accurate treatment. METHODS: The medical records of the Department of Obstetrics and Gynecology Tuebingen were searched for number and type of urogynecological surgery in general, and a surgery, which took place particularly owing to benign PVM, over a period of 5 years. Diagnostics, treatment, histology and postoperative management were summarized and analyzed...
November 12, 2016: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/27837201/efficacy-and-safety-of-topical-sirolimus-therapy-for-facial-angiofibromas-in-the-tuberous-sclerosis-complex-a-randomized-clinical-trial
#3
Mari Wataya-Kaneda, Ayumi Nakamura, Mari Tanaka, Misa Hayashi, Shoji Matsumoto, Koji Yamamoto, Ichiro Katayama
Importance: Inhibitors of mammalian target of rapamycin complex 1, such as sirolimus, effectively target skin lesions in tuberous sclerosis complex (TSC). However, systemic treatment causes adverse effects, and topical sirolimus has shown promise in the treatment of facial angiofibromas. Objective: To evaluate the efficacy, safety, and optimal concentration of a topical sirolimus gel vs placebo for treatment of facial angiofibromas in TSC. Design, Setting, and Participants: A double-blind, placebo-controlled, parallel-group, dose-escalation, phase 2 randomized clinical trial using 3 sirolimus gel concentrations was performed at Osaka University Hospital, Osaka, Japan...
November 12, 2016: JAMA Dermatology
https://www.readbyqxmd.com/read/27833886/a-drastic-aftermath-of-embolisation-in-juvenile-nasopharyngeal-angiofibroma
#4
Narayanan Janakiram, Shilpee Bhatia Sharma, Vidya Bhargavan Panicker, C V Srinivas
The role of preoperative embolization in alleviating intra operative haemorrhage in small to medium sized JNA is dubious. We report an unusual case of JNA who developed cerebral edema, hemiplegia and aphasia following glue embolisation and underwent frontotemporal craniectomy. This drastic aftermath of embolisation challenges the safety of preoperative embolisation in such lesions.
December 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/27823575/bilateral-blindness-following-anterior-nasal-packing-in-a-case-of-nasopharyngeal-angiofibroma
#5
A K Sahoo, C Preetam, R Kumar, D K Samal
BACKGROUND: Epistaxis is the most common ENT emergency encountered in the Emergency Department. Most cases can be managed by simple anterior nasal packing. This is usually a safe and very effective option in an emergency situation, requiring minimal expertise and infrastructure. This paper describes a rare instance of a serious complication following anterior nasal packing in a case of nasopharyngeal angiofibroma. CASE REPORT: A 27-year-old man diagnosed with nasopharyngeal angiofibroma presented to the Emergency Department with bilateral epistaxis...
November 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27776463/a-novel-de-novo-mutation-in-the-tsc2-gene-in-a-chinese-patient-with-tuberous-sclerosis-complex
#6
Wenzao Li, Peng Zhou, Congmin Zhao, Yuping Zhang
Tuberous sclerosis complex (TSC), a multisystem genetic syndrome, often affects the central nervous system. The age of onset of TSC ranges from 0 to 15 years. The clinical features manifest as a combination of seizures, mental retardation, facial angiofibroma, renal angiomyolipoma, and cardiac rhabdomyoma. Most cases of TSC are caused by mutations of the TSC1 or TSC2 genes. We characterized a Chinese patient with a novel de novo mutation in the TSC2 gene associated with the TSC detected by next-generation sequencing...
October 25, 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27772969/rare-histological-patterns-of-angiofibroma-of-soft-tissue
#7
Yuichi Yamada, Hidetaka Yamamoto, Kenichi Kohashi, Yoshinao Oda
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27753446/new-developments-in-the-genetics-and-pathogenesis-of-tumours-in-tuberous-sclerosis-complex
#8
REVIEW
Hilaire C Lam, Julie Nijmeh, Elizabeth P Henske
In just the past 5 years, dramatic changes have occurred in the clinical management of tuberous sclerosis complex (TSC). Detailed knowledge about the role of the TSC proteins in regulating the activity of the mammalian target of rapamycin complex 1 (mTORC1) underlies this paradigm-shifting progress. Advances continue to be made in understanding the genetic pathogenesis of the different tumours that occur in TSC, including pivotal discoveries using next-generation sequencing (NGS). For example, the pathogenesis of angiofibromas is now known to involve UV-induced mutations, and the pathogenesis of multifocal renal cell carcinoma (RCC) in TSC is now known to result from distinct second-hit mutations...
October 18, 2016: Journal of Pathology
https://www.readbyqxmd.com/read/27752379/juvenile-nasopharyngeal-angiofibroma-presenting-with-acute-airway-obstruction
#9
Chikoti Wheat, Ryan J Bickley, Erik Cohen, Danya Wenzler, Nancy Hunter, Donna Astiz
We describe a case of a 24-year-old male presenting urgently with a juvenile nasopharyngeal angiofibroma (JNA) with difficulty breathing, inability to swallow, and respiratory distress following throat swelling. The swelling was reduced with administration of dexamethasone and the JNA was surgically resected within 48 hours. This presentation was atypical given the acuity of presentation and the patient's older age.
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/27714938/a-case-of-giant-cell-rich-solitary-fibrous-tumor-in-the-external-auditory-canal
#10
Sayaka Yuzawa, Satoshi Tanikawa, Isamu Kunibe, Hiroshi Nishihara, Kazuo Nagashima, Shinya Tanaka
We present a rare case of giant cell-rich solitary fibrous tumor (SFT) arising at the left external auditory canal in a 31-year-old woman. The tumor was well-circumscribed and composed of spindle-shaped cells with abundant collagenous bands. Scattered multinucleate giant cells were observed, some of which lined pseudovascular spaces. Although a focal mild-hypercellular area was observed, mitoses were rare and necrosis was absent. Interstitial mast cells were scattered, especially in the hypercellular area. Immunohistochemically, CD34, vimentin, and Bcl-2 presented diffuse positivity...
December 2016: Pathology International
https://www.readbyqxmd.com/read/27698899/is-mtor-inhibitor-good-enough-for-treatment-all-tumors-in-tsc-patients
#11
Samy L Habib, Noor Y Al-Obaidi, Maciej Nowacki, Katarzyna Pietkun, Barbara Zegarska, Tomasz Kloskowski, Wojciech Zegarski, Tomasz Drewa, Edward A Medina, Zhenze Zhao, Sitai Liang
Tuberous sclerosis complex (TSC) is an autosomal dominant and multi-system genetic disorder in humans. TSC affects around 25,000 to 40,000 individuals in the United States and about 1 to 2 million individuals worldwide, with an estimated prevalence of one in 6,000 newborns. TSC occurs in all races and ethnic groups, and in both genders. TSC is caused by defects or mutations in two genes, TSC1 and TSC2. Loss of TSC1/TSC2 leads to dysregulation of mTOR, resulting in aberrant cell differentiation and development, and abnormal enlargement of cells...
2016: Journal of Cancer
https://www.readbyqxmd.com/read/27643542/topical-sirolimus-for-the-treatment-of-angiofibromas-in-tuberous-sclerosis
#12
Salih Levent Cinar, Demet Kartal, Ayse Kacar Bayram, Mehmet Canpolat, Murat Borlu, Ayten Ferahbas, Hüseyin Per
BACKGROUND: The skin is one of the most affected organs in tuberous sclerosis complex and angiofibromas are seen in almost 80% of such patients. These benign tumors impose a great psycho-social burden on patients. OBJECTIVE: The aim of the study was to evaluate the effectiveness and tolerability of topical sirolimus for facial angiofibromas in patients with tuberous sclerosis complex. METHODS: This was a prospective, single-blinded, cross-over study which involved twelve patients...
September 19, 2016: Indian Journal of Dermatology, Venereology and Leprology
https://www.readbyqxmd.com/read/27633981/gene-fusions-ahrr-ncoa2-ncoa2-etv4-etv4-ahrr-p4ha2-tbck-and-tbck-p4ha2-resulting-from-the-translocations-t-5-8-17-p15-q13-q21-and-t-4-5-q24-q31-in-a-soft-tissue-angiofibroma
#13
Ioannis Panagopoulos, Ludmila Gorunova, Trond Viset, Sverre Heim
We present an angiofibroma of soft tissue with the karyotype 46,XY,t(4;5)(q24;q31),t(5;8;17)(p15;q13;q21)[8]/46,XY,t(1;14)(p31;q32)[2]/46,XY[3]. RNA‑sequencing showed that the t(4;5)(q24;q31) resulted in recombination of the genes TBCK on 4q24 and P4HA2 on 5q31.1 with generation of an in‑frame TBCK‑P4HA2 and the reciprocal but out‑of‑frame P4HA2‑TBCK fusion transcripts. The putative TBCK‑P4HA2 protein would contain the kinase, the rhodanese‑like domain, and the Tre‑2/Bub2/Cdc16 (TBC) domains of TBCK together with the P4HA2 protein which is a component of the prolyl 4‑hydroxylase...
September 15, 2016: Oncology Reports
https://www.readbyqxmd.com/read/27601836/juvenile-nasopharyngeal-angiofibroma
#14
Jashika Adil Shroff Makhasana, Meena A Kulkarni, Suhas Vaze, Adil Sarosh Shroff
Juvenile nasopharyngeal angiofibroma (JNA) is a rare benign tumor arising predominantly in the nasopharynx of adolescent males. It is an aggressive neoplasm and shows a propensity for destructive local spread often extending to the base of the skull and into the cranium. Clinically, however, it is obscure with painless, progressive unilateral nasal obstruction being the common presenting symptom with or without epistaxis and rhinorrhea. Diagnosis of JNA is made by complete history, clinical examination, radiography, nasal endoscopy and by using specialized imaging techniques such as arteriography, computer tomography and magnetic resonance imaging...
May 2016: Journal of Oral and Maxillofacial Pathology: JOMFP
https://www.readbyqxmd.com/read/27577998/current-molecular-profile-of-juvenile-nasopharyngeal-angiofibroma-first-comprehensive-study-from-india
#15
Praveen Pandey, Anupam Mishra, Ashoak Mani Tripathi, Veerendra Verma, Ritu Trivedi, Hitendra Prakash Singh, Sunil Kumar, Brijesh Patel, Vinay Singh, Shivani Pandey, Amita Pandey, Subhash Chandra Mishra
OBJECTIVE: An attempt is made to analyze the molecular behavior of juvenile nasopharyngeal angiofibroma (JNA). STUDY DESIGN: Case Series METHODS: Quantification of mRNAs expression was undertaken through real-time polymerase chain reaction in JNA (9-24) samples for VEGF-A, basic fibroblast growth factor (b-FGF), platelet-derived growth factor PDGF-A, KIT proto-oncogene receptor tyrosine kinase (c-Kit), Avian myelomatosis viral oncogene homolog (c-Myc), Harvey rat sarcoma viral oncogene homolog (H-Ras), tumor suppressor gene TP53, and androgen receptor and interleukin 6 (IL-6)...
August 31, 2016: Laryngoscope
https://www.readbyqxmd.com/read/27572281/current-status-and-clinical-association-of-beta-catenin-with-juvenile-nasopharyngeal-angiofibroma
#16
A Mishra, V Singh, V Verma, S Pandey, R Trivedi, H P Singh, S Kumar, R C Dwivedi, S C Mishra
OBJECTIVE: A possible role of the APC/beta-catenin pathway in the pathogenesis of sporadic juvenile nasopharyngeal angiofibroma has been suggested. This paper presents its current status and clinical association in our patients. METHOD: A prospective observational study was conducted at King George Medical University and Central Drug Research Institute, in Lucknow, India. Western blot analysis was undertaken in 16 cases to examine beta-catenin expression. The clinical details were recorded along with follow up observations, to determine associations...
August 30, 2016: Journal of Laryngology and Otology
https://www.readbyqxmd.com/read/27542804/emergency-department-care-of-childhood-epistaxis
#17
E Béquignon, N Teissier, A Gauthier, L Brugel, H De Kermadec, A Coste, V Prulière-Escabasse
OBJECTIVE: The aim of this review is to determine an efficient and safe primary strategy care for paediatric epistaxis. DATA SOURCES: We searched PubMed and Cochrane databases for studies referenced with key words 'epistaxis AND childhood'. This search yielded 32 research articles about primary care in childhood epistaxis (from 1989 to 2015). Bibliographic references found in these articles were also examined to identify pertinent literature. We compared our results to the specific management of adult epistaxis classically described in the literature...
August 19, 2016: Emergency Medicine Journal: EMJ
https://www.readbyqxmd.com/read/27532520/rare-infratentorial-and-supratentorial-localization-of-juvenile-angiofibroma-a-case-report
#18
Ivan Pašalić, Ines Trninić, Jakob Nemir, Hrvoje Jednačak, Kamelija Žarković, Goran Mrak
Angiofibromas are rare tumors of the head and neck that mostly occur in the sphenopalatine region. We present a case of angiofibroma in a young male patient with an unusual and extremely rare localization, which to our knowledge has not been described before. It was situated in the tentorium and spread to the supratentorial and infratentorial regions. The patient initially presented with symptoms of increased intracranial pressure. After a diagnostic evaluation was done, the whole tumor was successfully removed using the supratentorial and infratentorial approach and the microsurgical technique...
2016: Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27508124/endoscopic-excision-of-non-embolized-juvenile-nasopharyngeal-angiofibroma-our-technique
#19
Trichy Narayanan Janakiram, Shilpee Bhatia Sharma, Vidya Bhargavan Panicker
To approach Juvenile nasopharyngeal angiofibroma extending to the sphenoid sinus, pterygoid wedge and minimal involvement of the pterygopalatine fossa (Radkowski Stage 2 A) with an endoscopic technique without embolization with no recurrence and minimal morbidity and mortality. This is a retrospective, descriptive study based on the medical records of 15 patients with histologically confirmed JNA who underwent endoscopic binostril four handed endoscopic excision in our centre without embolisation between 2010 and 2015...
September 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
https://www.readbyqxmd.com/read/27466841/differential-diagnosis-of-chronic-rhinosinusitis-with-nasal-polyps
#20
Nyall R London, Douglas D Reh
Nasal polyps are semi-translucent mucosal outgrowths of the paranasal sinuses which typically arise in the setting of chronic rhinosinusitis (CRS). Nasal polyps are also associated with asthma, aspirin sensitivity, cystic fibrosis and allergic fungal rhinosinusitis (AFS). The majority of nasal polyps are bilateral and characterized by tissue edema and eosinophil infiltration. Patients with nasal polyps often present with complaints including nasal obstruction, congestion, rhinorrhea or altered sense of smell...
2016: Advances in Oto-rhino-laryngology
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