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https://www.readbyqxmd.com/read/29350783/malignant-mesothelioma-in-situ
#1
Andrew Churg, Harry Hwang, Lawrence Tan, Gefei Qing, Altaf Taher, Amy Tong, AnaMaria Bilawich, Sanja Dacic
The existence of malignant mesothelioma in situ (MIS) is often postulated, but there are no accepted morphologic criteria for making such a diagnosis. Here we report two cases that appear to be true MIS on the basis of in situ genomic analysis. In one case the patient had repeated unexplained pleural unilateral effusions. Two thoracoscopies 9 months apart revealed only visually normal pleura. Biopsies from both thoracoscopies showed only a single layer of mildly reactive mesothelial cells. However, these cells had lost BAP1 and showed loss of CDKN2A ("p16″) by FISH...
January 19, 2018: Histopathology
https://www.readbyqxmd.com/read/29344474/corneal-myofibroma-keloid-in-a-young-patient-with-neurofibromatosis-type-2
#2
Lisa Zimmermann, Thomas Reinhard, Clemens Lange, Steffen Heegaard, Claudia Auw-Haedrich
We present a 27-year-old male patient with neurofibromatosis type 2 (NF2), facial palsy, and lagophthalmos following acoustic neuroma removal and an impressing vascularized corneal tumor, which was excised. Histology showed a fibrous tumor with small vessels, and immunohistochemistry was positive for vimentin and negative for smooth muscle actin, S100, and GFAP. We assume a corneal myofibroma (keloid), which in this case rather represents a reactive lesion. This entity has not been described before in NF2 or in facial palsy-associated lagophthalmos in general...
November 2017: Ocular Oncology and Pathology
https://www.readbyqxmd.com/read/29342862/heterogeneous-contributing-factors-in-mpm-disease-development-and-progression-biological-advances-and-clinical-implications
#3
REVIEW
Bhairavi Tolani, Luis A Acevedo, Ngoc T Hoang, Biao He
Malignant pleural mesothelioma (MPM) tumors are remarkably aggressive and most patients only survive for 5-12 months; irrespective of stage; after primary symptoms appear. Compounding matters is that MPM remains unresponsive to conventional standards of care; including radiation and chemotherapy. Currently; instead of relying on molecular signatures and histological typing; MPM treatment options are guided by clinical stage and patient characteristics because the mechanism of carcinogenesis has not been fully elucidated; although about 80% of cases can be linked to asbestos exposure...
January 13, 2018: International Journal of Molecular Sciences
https://www.readbyqxmd.com/read/29342057/audiologic-natural-history-of-small-volume-cochleovestibular-schwannomas-in-neurofibromatosis-type-2
#4
Alvin T deTorres, Carmen C Brewer, Chris K Zalewski, Kelly A King, Robert Walker, Gretchen C Scott, Ashok R Asthagiri, Prashant Chittiboina, Hung Jeffrey Kim
OBJECTIVE: To characterize the audiometric natural progression in patient-ears with small volume (<1,000 mm), treatment-naïve cochleovestibular schwannomas (CVSs) in Neurofibromatosis Type 2 (NF2). STUDY DESIGN: Prospective, longitudinal cohort study. SETTING: Quaternary medical research institute. PATIENTS: One hundred eleven ears in 71 NF2 patients with small, treatment-naïve CVSs observed from July 2006 to July 2016...
January 16, 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29338455/current-treatment-options-for-meningioma
#5
Caroline Apra, Matthieu Peyre, Michel Kalamarides
With an annual incidence of 5/100,000, meningioma is the most frequent primary tumor of the central nervous system. Risk factors are radiotherapy and hormone intake. Most meningiomas are grade I benign tumors, but up to 15% are atypical and 2% anaplastic according to the WHO 2016 histological criteria. Areas covered: This review details the current standard therapy based on international guidelines and recent literature, and describes new approaches developed to treat refractory cases. First-line treatments are observation and surgery, but adjuvant radiotherapy/radiosurgery is discussed for atypical and indicated for anaplastic meningiomas...
January 17, 2018: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29322178/early-genetic-diagnosis-of-neurofibromatosis-type-2-from-skin-plaque-plexiform-schwannomas-in-childhood
#6
Elisabeth Castellanos, Adrià Plana, Cristina Carrato, Meritxell Carrió, Inma Rosas, Emilio Amilibia, Francesc Roca-Ribas, Cristina Hostalot, Alicia Castillo, Andrea Ros, Ariadna Quer, Juan Luis Becerra, Hector Salvador, Conxi Lázaro, Ignacio Blanco, Eduard Serra, Isabel Bielsa
Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing...
January 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29279723/diagnostics-and-therapy-of-vestibular-schwannomas-an-interdisciplinary-challenge
#7
REVIEW
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
2017: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/29249622/differential-expression-of-nf2-in-neuroepithelial-compartments-is-necessary-for-mammalian-eye-development
#8
Kyeong Hwan Moon, Hyoung-Tai Kim, Dahye Lee, Mahesh B Rao, Edward M Levine, Dae-Sik Lim, Jin Woo Kim
The optic neuroepithelial continuum of vertebrate eye develops into three differentially growing compartments: the retina, the ciliary margin (CM), and the retinal pigment epithelium (RPE). Neurofibromin 2 (Nf2) is strongly expressed in slowly expanding RPE and CM compartments, and the loss of mouse Nf2 causes hyperplasia in these compartments, replicating the ocular abnormalities seen in human NF2 patients. The hyperplastic ocular phenotypes were largely suppressed by heterozygous deletion of Yap and Taz, key targets of the Nf2-Hippo signaling pathway...
December 12, 2017: Developmental Cell
https://www.readbyqxmd.com/read/29230670/double-somatic-smarcb1-and-nf2-mutations-in-sporadic-spinal-schwannoma
#9
Irene Paganini, Gabriele Lorenzo Capone, Jeremie Vitte, Roberta Sestini, Anna Laura Putignano, Marco Giovannini, Laura Papi
In sporadic schwannomas, inactivation of both copies of the NF2 tumor suppressor gene on 22q is common. Constitutional mutations of SMARCB1 are responsible of schwannomatosis, an inherited tumor predisposition syndrome, characterized by the development of multiple schwannomas. We analysed the frequency of copy number changes on chromosome 22 and the mutation of NF2 and SMARCB1 in 26 sporadic schwannomas. We found two spinal schwannomas with an identical somatic missense mutation in SMARCB1 exon 9: p.(Arg377His)...
December 11, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29219182/the-emerging-role-of-hippo-signaling-pathway-in-regulating-osteoclast-formation
#10
REVIEW
Wanlei Yang, Weiqi Han, An Qin, Ziyi Wang, Jiake Xu, Yu Qian
A delicate balance between osteoblastic bone formation and osteoclastic bone resorption is crucial for bone homeostasis. This process is regulated by the Hippo signaling pathway including key regulatory molecules RASSF2, NF2, MST1/2, SAV1, LATS1/2, MOB1, YAP and TAZ. It is well established that the Hippo signaling pathway plays an important part in regulating osteoblast differentiation, but its role in osteoclast formation and activation remains poorly understood. In this review, we discuss the emerging role of Hippo-signaling pathway in osteoclast formation and bone homeostasis...
December 8, 2017: Journal of Cellular Physiology
https://www.readbyqxmd.com/read/29206892/progestin-associated-shift-of-meningioma-mutational-landscape
#11
M Peyre, S Gaillard, C de Marcellus, M Giry, F Bielle, C Villa, A L Boch, H Loiseau, B Baussart, L Cazabat, M L Raffin-Sanson, M Sanson, M Kalamarides
Background: Meningiomas are the most common primary tumor of the central nervous system. The relationship between meningioma and progestins is frequently mentioned but has not been elucidated. Patients and methods: We identified 40 female patients operated for a meningioma after long-term progestin therapy and performed targeted next generation sequencing in order to decipher the mutational landscape of hormone-related meningiomas. A published cohort of 530 meningiomas in women was used as a reference population...
November 30, 2017: Annals of Oncology: Official Journal of the European Society for Medical Oncology
https://www.readbyqxmd.com/read/29188529/spinal-ependymomas-in-nf2-a-surgical-disease
#12
M Kalamarides, W Essayed, J P Lejeune, R Aboukais, O Sterkers, D Bernardeschi, M Peyre, S K Lloyd, S Freeman, C Hammerbeck-Ward, M Kellett, S A Rutherford, D G Evans, O Pathmanaban, A T King
The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients...
November 29, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29185955/paraburkholderia-azotifigens-sp-nov-a-nitrogen-fixing-bacterium-isolated-from-paddy-soil
#13
Gyu-Min Choi, Wan-Taek Im
A Gram-stain-negative, aerobic, non-motile and rod-shaped bacterial strain, designated NF2-5-3T, was isolated from a paddy soil in Anseong city, Republic of Korea. This bacterium was characterized to determine its taxonomic position using a polyphasic approach. On the basis of 16S rRNA gene sequence analysis, strain NF2-5-3T had a close relationship with, and was related most closely to, members of the genus Paraburkholderia, namely Paraburkholderia caribensis MWAP64T (98.8 % similarity), P. sabiae Br3407T (98...
November 29, 2017: International Journal of Systematic and Evolutionary Microbiology
https://www.readbyqxmd.com/read/29160153/voice-and-swallowing-dysfunction-in-neurofibromatosis-2
#14
Simon R Best, Julie Ahn, Shannon Langmead, Vaninder Dhillon, Alexander T Hillel, Lee M Akst, Jaishri O Blakeley
Objective Neurofibromatosis 2 (NF2) is a neuro-oncologic condition that presents with bilateral vestibular schwannomas of the cerebellopontine angle (CPA). Voice and swallowing impairment can occur from direct involvement or compression of the vagus nerve or as the result of surgical excision of CPA tumors. The objectives in this study are to (1) assess the prevalence of voice and swallowing impairments and (2) analyze the effects of vagal dysfunction in patients with NF2. Study Design Cross-sectional. Setting Academic tertiary care center...
November 1, 2017: Otolaryngology—Head and Neck Surgery
https://www.readbyqxmd.com/read/29138018/anti-tumor-effects-of-cold-atmospheric-pressure-plasma-on-vestibular-schwannoma-demonstrate-its-feasibility-as-an-intra-operative-adjuvant-treatment
#15
Yeo Jun Yoon, Michelle J Suh, Hyun Young Lee, Hae June Lee, Eun Ha Choi, In Seok Moon, Kiwon Song
Vestibular schwannoma (VS), although a benign intracranial tumor, causes morbidities by brainstem compression. Since chemotherapy is not very effective in most Nf2-negative schwannomas, surgical removal or radiation therapy is required. However, depending on the size and site of the tumor, these approaches may cause loss of auditory or vestibular functions, and severely decrease the post-surgical wellbeing. Here, we examined the feasibility of cold atmospheric pressure plasma (CAP) as an intra-operative adjuvant treatment for VS after surgery...
November 11, 2017: Free Radical Biology & Medicine
https://www.readbyqxmd.com/read/29130106/molecular-alterations-of-the-nf2-gene-in-hepatocellular-carcinoma-and-intrahepatic-cholangiocarcinoma
#16
Ning Zhang, Zhang Zhao, Jiang Long, Hai Li, Bei Zhang, Guangyong Chen, Xiaojin Li, Tingxia Lv, Wei Zhang, Xiaojuan Ou, Anjian Xu, Jian Huang
Neurofibromatosis type 2 with mutations in the neurofibromin 2 (NF2) gene, encoding the Merlin protein, is an autosomal dominant disorder characterized by enhanced cancer predisposition, particularly tumors of the central nervous system. Recent animal studies indicate that disruption of NF2/Merlin function in oval cells, which are hepatic progenitor cells, may lead to the development of primary liver cancers including hepatocellular carcinoma (HCC) and intrahepatic cholangiocarcinoma (ICC); however, its role in human primary liver cancer remains unclear...
December 2017: Oncology Reports
https://www.readbyqxmd.com/read/29119424/health-literacy-assessment-in-adults-with-neurofibromatosis-electronic-and-short-form-measurement-using-fcchl-and-health-litt
#17
Vanessa L Merker, Sarah McDannold, Eric Riklin, Mojtaba Talaei-Khoei, Monica R Sheridan, Justin T Jordan, Scott R Plotkin, Ana-Maria Vranceanu
Determining health literacy level is an important prerequisite for effective patient education. We assessed multiple dimensions of health literacy and sociodemographic predictors of health literacy in patients with neurofibromatosis. In 86 individuals with a confirmed diagnosis of neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), or schwannomatosis, we assessed health literacy status using two HL tools-the adapted functional, communicative, and critical health literacy scale (adapted FCCHL) and health literacy assessment using talking touchscreen technology (Health LiTT)...
November 8, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29115758/neurofibromatosis-and-the-role-of-the-specialist-adviser
#18
Carolyn Redman
Neurofibromatosis (NF) is a genetic condition that mainly involves the nervous system. There are two types: NF1 affects about one in 2,500 of the population worldwide and NF2 affects one in 35,000. Both types result in complex health problems for patients and can pose significant challenges for all those involved in their management. Established in 1981, The Neuro Foundation is a patient-focused charity that funds a network of specialist advisers who work in partnership with the NHS to offer support and advice for families affected by NF and the professionals who care for them...
September 11, 2017: Nursing Children and Young People
https://www.readbyqxmd.com/read/29095749/genetics-of-vestibular-syndromes
#19
Pablo Roman-Naranjo, Alvaro Gallego-Martinez, Jose A Lopez Escamez
PURPOSE OF REVIEW: The increased availability of next generation sequencing has enabled a rapid progress in the discovery of genetic variants associated with vestibular disorders. We have summarized molecular genetics finding in vestibular syndromes during the last 18 months. RECENT FINDINGS: Genetic studies continue to shed light on the genetic background of vestibular disorders. Novel genes affecting brain development and otolith biogenesis have been associated with motion sickness...
February 2018: Current Opinion in Neurology
https://www.readbyqxmd.com/read/29088993/an-update-on-the-diagnosis-and-treatment-of-vestibular-schwannoma
#20
Jane Halliday, Scott A Rutherford, Martin G McCabe, Dafydd G Evans
Vestibular schwannomas (VS) account for approximately 85% of tumors in the cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are sporadic, with approximately 5% related to the tumor predisposition syndrome Neurofibromatosis Type 2 (NF2). The mainstays of management strategies are: observation, surgery, radiosurgery/radiotherapy and, for patients with NF2 and rapidly growing tumors or deteriorating neurologic function the targeted therapy bevacizumab. While morbidity and mortality rates related to treatment of VS have improved dramatically over the last decades, there are still significant improvements that could be made, in particular with regards to long-term facial nerve and hearing outcomes...
January 2018: Expert Review of Neurotherapeutics
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