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https://www.readbyqxmd.com/read/28073205/rare-presentation-of-a-testicular-angiofibroma-treated-with-testis-sparing-surgery
#1
Luca Leone, Paola Fulvi, Giulia Sbrollini, Alessandra Filosa, Enrico Caraceni, Angelo Marronaro, Andrea B Galosi
INTRODUCTION: Testicular benign tumors are very rare (< 5%). Testicular Angiofibroma (AF) is one of those, however the gold standard of treatment and follow-up is still unclear. CASE REPORT: A 47 years-old man with only one functioning testis was referred to our clinic for a palpable right testicular mass and atrophic contralateral testis. Patient underwent testis-sparing surgery with inguinal approach and intraoperative frozen sections examination with diagnosis of AF...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28073203/testicular-sparing-surgery-in-small-testis-masses-a-multinstitutional-experience
#2
Andrea B Galosi, Paola Fulvi, Andrea Fabiani, Lucilla Servi, Alessandra Filosa, Luca Leone, Angelo Marronaro, Enrico Caraceni, Rodolfo Montironi
INTRODUCTION: The incidence of benign testicular tumors is increasing in particular in small lesion incidentally found at scrotal ultrasonography. Primary aim of this study was to perform radical surgery in malignant tumor. Secondary aim was to verify the efficacy of the diagnostic-therapeutic pathway recently adopted in management of small masses with testis sparing surgery in benign lesions. MATERIALS AND METHODS: In this multicenter study, we reviewed all patients with single testis lesion less than 15 mm at ultrasound as main diameter...
December 30, 2016: Archivio Italiano di Urologia, Andrologia
https://www.readbyqxmd.com/read/28057044/tuberous-sclerosis-registry-to-increase-disease-awareness-tosca-baseline-data-on-2093-patients
#3
John C Kingswood, Guillaume B d'Augères, Elena Belousova, José C Ferreira, Tom Carter, Ramon Castellana, Vincent Cottin, Paolo Curatolo, Maria Dahlin, Petrus J de Vries, Martha Feucht, Carla Fladrowski, Gabriella Gislimberti, Christoph Hertzberg, Sergiusz Jozwiak, John A Lawson, Alfons Macaya, Rima Nabbout, Finbar O'Callaghan, Mirjana P Benedik, Jiong Qin, Ruben Marques, Valentin Sander, Matthias Sauter, Yukitoshi Takahashi, Renaud Touraine, Sotiris Youroukos, Bernard Zonnenberg, Anna C Jansen
BACKGROUND: Tuberous sclerosis complex (TSC) is a rare autosomal dominant genetic disorder. Many gaps remain in the understanding of TSC because of the complexity in clinical presentation. The TuberOus SClerosis registry to increase disease Awareness (TOSCA) is an international disease registry designed to address knowledge gaps in the natural history and management of TSC. Here, we present the baseline data of TOSCA cohort. METHODS: Patients of any age diagnosed with TSC, having a documented visit for TSC within the preceding 12 months, or newly diagnosed individuals were included...
January 5, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28049994/facial-angiofibromas-and-periungual-fibromas-in-tuberous-sclerosis
#4
Hiraku Tsujimoto, Hiroya Takeoka
No abstract text is available yet for this article.
2017: Internal Medicine
https://www.readbyqxmd.com/read/28002623/comprehensive-screening-for-med12-mutations-in-gynecological-mesenchymal-tumors-identified-morphologically-distinctive-mixed-epithelial-and-stromal-tumors
#5
Chang-Tsu Yuan, Wen-Chih Huang, Cheng-Han Lee, Ming-Chieh Lin, Chen-Hui Lee, Yu-Chien Kao, Hsuan-Ying Huang, Kuan-Ting Kuo, Jen-Chieh Lee
BACKGROUND: MED12 exon 2 mutations have been identified in most uterine leiomyomas and mammary fibroepithelial tumors. MED12 has not been genotyped in most other gynecological mesenchymal tumors. DESIGN: 68 uncommon gynecological mesenchymal tumors were genotyped for MED12 exon 2, including 27 müllerian adenosarcomas (including 3 tentatively diagnosed as "variant adenosarcomas"), 6 cellular angiofibromas, 6 aggressive angiomyxomas, 5 angiomyofibroblastomas, 5 superficial myofibroblastomas, 5 atypical polypoid adenomyomas, and 14 endometrial stromal sarcomas...
December 21, 2016: Histopathology
https://www.readbyqxmd.com/read/27994429/odontogenic-myxofibroma-of-gingiva-in-a-pediatric-patient-with-tuberous-sclerosis-a-rare-case-report
#6
Nidhi Bhoyar, Sunita Gupta, Sujoy Ghosh
Tuberous sclerosis complex (TSC) is a rare multisystem genetic disease, with an estimated incidence of 1 in 6000-1 in 10,000. TSC is an autosomal dominant syndrome involving heart, kidneys, lungs, and skin. The classic triad of TSC is seizures, mental retardation, and angiofibromas; this triad occurs in only 29% of patients. The clinical diagnostic guidelines on TSC are prepared based on clinical features, radiographic findings. The most common oral manifestations of TSC are fibroma, gingival hyperplasia, and enamel hypoplasia...
October 2016: Contemporary Clinical Dentistry
https://www.readbyqxmd.com/read/27957369/angiofibroma-originating-outside-the-nasopharynx-a-management-dilemma
#7
Ashraf Nabeel Mahmood, Rashid Sheikh, Hamad Al Saey, Sarah Ashkanani, Shanmugam Ganesan
Background. Angiofibroma is a benign tumor, consisting of fibrous tissue with varying degrees of vascularity, characterized by proliferation of stellate and spindle cells around the blood vessels. It most commonly arises from the nasopharynx, although it may rarely arise in extranasopharyngeal sites. Case Report. A 46-year-old male presented with left side nasal obstruction and epistaxis for one month. Clinical nasal examination revealed left sided polypoidal mass arising from the vestibular region of the lateral nasal wall...
2016: Case Reports in Otolaryngology
https://www.readbyqxmd.com/read/27957307/ten-years-of-experience-in-clinicopathologic-characteristics-treatment-and-outcome-of-patients-with-nasopharyngeal-pathologies-in-yazd-iran
#8
Fariba Binesh, Ahmad Shajari, Somayeh Abdollahi, Nasim Behniafard
INTRODUCTION: Although there are some studies regarding the clinical characteristics and outcome of nasopharyngeal tumors, one such study from Iran has not been reported to date. This study aimed to evaluate the clinical features, treatment, and consequences of nasopharyngeal lesions. METHODS: In this cross sectional study, we conducted a retrospective review of patients who were diagnosed with nasopharyngeal pathologies and treated at Shahid Sadoughi Hospital and Shahid Ramazanzadeh Radiotherapy Center in Yazd, Iran, over a period of 10 years (from 2005 to 2014)...
October 2016: Electronic Physician
https://www.readbyqxmd.com/read/27922925/update-on-nonmalignant-lesions-of-the-inferior-turbinate
#9
Jared M Goldfarb, David Goldfarb, Marc R Rosen
PURPOSE OF REVIEW: The inferior turbinates are routinely examined by otolaryngologists on anterior rhinoscopy and nasal endoscopy. Most lesions of the inferior turbinate are benign but can often be confused with malignancy. This review highlights the broad differential of nonmalignant lesions of the inferior turbinates and their management. RECENT FINDINGS: A variety of infectious, inflammatory, neoplastic, and vascular lesions may affect the inferior turbinates...
February 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/27907099/analysis-of-a-mouse-skin-model-of-tuberous-sclerosis-complex
#10
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
#11
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
#12
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...
January 1, 2017: JAMA Dermatology
https://www.readbyqxmd.com/read/27833886/a-drastic-aftermath-of-embolisation-in-juvenile-nasopharyngeal-angiofibroma
#13
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
#14
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
#15
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...
September 2016: Journal of Neurogenetics
https://www.readbyqxmd.com/read/27772969/rare-histological-patterns-of-angiofibroma-of-soft-tissue
#16
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
#17
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...
January 2017: Journal of Pathology
https://www.readbyqxmd.com/read/27752379/juvenile-nasopharyngeal-angiofibroma-presenting-with-acute-airway-obstruction
#18
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
#19
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
#20
REVIEW
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
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