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Hilaire C Lam, Julie S Nijmeh, Elizabeth P Henske
In just the past five 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
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
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...
October 6, 2016: Pathology International
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
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
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
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
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
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
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
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
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
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
T Mentzel, A Rütten, M Hantschke, J L Hornick, T Brenn
Spindle cell lipoma represents a distinct clinicopathological entity and is related to cellular angiofibroma and mammary-type myofibroblastoma. Spindle cell lipomas are composed of mature lipogenic cells and a variable number of CD34-positive spindle cells that show loss of retinoblastoma protein expression. Spindle cell lipomas occasionally express S-100 protein. We studied one case of purely dermal spindle cell lipoma and four cases of classical subcutaneous spindle cell lipoma arising in one female and four male patients (age ranged from 55 to 69 years)...
October 2016: Virchows Archiv: An International Journal of Pathology
Kasra Khatibi, Omar Choudhri, Ian D Connolly, Ryan A McTaggart, Huy M Do
Trigeminal-cardiac reflex (TCR) from stimulation of sensory branches of trigeminal nerve can lead to hemodynamic instability. This phenomenon has been described during ophthalmologic, craniofacial, and skull base surgeries. TCR has been rarely reported with endovascular onyx embolization of dural Arteriovenous fistulas (DAVF). We report a case of TCR during endovascular Onyx embolization of an arteriovenous malformation (AVM). A 16-year-old boy presented with a large cerebellar AVM with arterial feeders from external carotid artery and posterior cerebral artery branches...
July 16, 2016: World Neurosurgery
Cary Crall, Molly Valle, Kush Kapur, Kira A Dies, Marilyn G Liang, Mustafa Sahin, Jennifer T Huang
BACKGROUND/OBJECTIVES: Facial angiofibromas (AF) have the potential to cause disfigurement in children with tuberous sclerosis complex (TSC). Facial disfigurement can impact the quality of life (QoL) of individuals and their families, leading to negative psychosocial outcomes. QoL has not been studied in TSC patients with AF. METHODS: We conducted a cross-sectional survey study to investigate QoL of TSC patients with AF and their caregivers and to explore the current state of access to treatment for AF...
September 2016: Pediatric Dermatology
Jingjing Wang, Zhoufu Liu, Li Hu, Xicai Sun, Huapeng Yu, Huankang Zhang, Chenhe Yang, Quan Liu, Dehui Wang
No abstract text is available yet for this article.
September 2016: Acta Biochimica et Biophysica Sinica
Anna Jeong, Michael Wong
OBJECTIVE: Epilepsy is one of the most disabling symptoms of tuberous sclerosis complex (TSC) and is a leading cause of morbidity and mortality in affected individuals. The relationship between systemic disease manifestations and the presence of epilepsy has not been thoroughly investigated. This study utilizes a multicenter TSC Natural History Database including 1,816 individuals to test the hypothesis that systemic disease manifestations of TSC are associated with epilepsy. METHODS: Univariate analysis was used to identify patient characteristics (e...
September 2016: Epilepsia
Funda Karademir, Christian Rose, Matthias Goebeler, Hermann Kneitz, Henning Hamm, Marion Wobser
No abstract text is available yet for this article.
July 2016: Journal der Deutschen Dermatologischen Gesellschaft, Journal of the German Society of Dermatology: JDDG
Pradip Kumar Tiwari, Pinpo Teron, Nabajyoti Saikia, H P Saikia, U T Bhuyan, Debajit Das
Juvenile nasopharyngeal angiofibroma is a very rare, highly vascular, uncapsulated and locally invasive tumor. Recently a changing trend has been seen in its epidemiology, pathogenesis, diagnosis, medical management, pre-operative care, surgical management and post-operative care including radiotherapy. Study the changing trend basically in the north-eastern region of south-east Asia and its prospects. Retrospective study of patients presenting with JNA between the study period of 6 months (October 2014-March 2015) in the, Department of Otolaryngology and Head and Neck Surgery, Assam Medical College, Dibrugarh, Assam, India...
June 2016: Indian Journal of Otolaryngology and Head and Neck Surgery
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