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Neurofibromas

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https://www.readbyqxmd.com/read/29331035/noninvasive-optical-spectroscopy-for-identification-of-non-melanoma-skin-cancer-pilot-study
#1
David J Carpenter, Mirabelle B Sajisevi, Nikita Chapurin, Clifford Scott Brown, Tracy Cheng, Gregory M Palmer, Daniel S Stevenson, Caroline L Rao, Russell P Hall, Charles R Woodard
OBJECTIVE: Optical spectroscopy offers a noninvasive alternative to biopsy as a first-line screening tool for suspicious skin lesions. This study sought to define several optical parameters across malignant and benign tissue types. STUDY DESIGN: Prospective pilot trial utilizing the Zenalux IM1 optical spectroscopy device from April 2016 to February 2017. For each skin lesion, provider pre-biopsy probability of malignancy was compared to histolopathologic diagnosis...
January 13, 2018: Lasers in Surgery and Medicine
https://www.readbyqxmd.com/read/29319284/neurofibroma-not-associated-with-neurofibromatosis
#2
Michele Pezza, Gerardo Ferrara, Gerardo Casucci, Valentina Carlomagno
No abstract text is available yet for this article.
February 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29314300/low-grade-fibromyxoid-sarcoma-arising-within-the-median-nerve
#3
Amy A Swanson, Caterina Giannini, Andrew L Folpe, Daniel L Van Dyke, Kimberly K Amrami, William A Michalak, Rachael A Vaubel
We report a case of low-grade fibromyxoid sarcoma arising within the median nerve. A 31-year-old woman presented with symptoms of carpal tunnel syndrome and an enlarging mass in her right palm over 1 year. MRI demonstrated a mass associated with the right median nerve with solid and cystic components. At surgery, the mass was located within the epineurium, could be bluntly dissected from the nerve fascicles, and was suspected to be a schwannoma. A 3.4 cm, tan-pink, glistening, smooth, homogenous mass was submitted to pathology...
January 3, 2018: Neuropathology: Official Journal of the Japanese Society of Neuropathology
https://www.readbyqxmd.com/read/29299101/rib-head-dislocation-causing-spinal-canal-stenosis-in-a-child-with-neurofibromatosis-type-1
#4
Alan M Chen, Jeffrey B Neustadt, Jennifer Neville Kucera
A 10-year-old female with neurofibromatosis type 1 and severe dystrophic scoliosis presented with a two-month history of difficulty ambulating due to low back pain. The patient did not have any neurological symptoms. MRI of the thoracolumbar spine demonstrated subluxation of the right posterior tenth and eleventh ribs through their respective neural foramina, with mild mass effect on the thecal sac without abnormal cord signal or cord compression. Groups of neurofibromas were present along the right ribs and paravertebral soft tissues around these levels...
August 2017: Journal of Radiology Case Reports
https://www.readbyqxmd.com/read/29291298/neurofibroma-of-the-peroneal-nerve
#5
Clayton Haldeman, Amgad Hanna
Neurofibromas are benign tumors composed of different cell types from the peripheral nervous system. Neurofibromas infiltrate between nerve fascicles and do not have a discrete capsule. On MRI, they are T1 hypointense or isointense, T2 hyperintense, often with a "target sign," and contrast enhancing. The video shows gross-total resection of a peroneal nerve neurofibroma presenting as a painful mass in the popliteal fossa. Incisions across a skin crease can be either oblique or zigzag, but never perpendicular to it...
January 2018: Neurosurgical Focus
https://www.readbyqxmd.com/read/29290338/genotype-phenotype-correlation-in-nf1-evidence-for-a-more-severe-phenotype-associated-with-missense-mutations-affecting-nf1-codons-844-848
#6
Magdalena Koczkowska, Yunjia Chen, Tom Callens, Alicia Gomes, Angela Sharp, Sherrell Johnson, Meng-Chang Hsiao, Zhenbin Chen, Meena Balasubramanian, Christopher P Barnett, Troy A Becker, Shay Ben-Shachar, Debora R Bertola, Jaishri O Blakeley, Emma M M Burkitt-Wright, Alison Callaway, Melissa Crenshaw, Karin S Cunha, Mitch Cunningham, Maria D D'Agostino, Karin Dahan, Alessandro De Luca, Anne Destrée, Radhika Dhamija, Marica Eoli, D Gareth R Evans, Patricia Galvin-Parton, Jaya K George-Abraham, Karen W Gripp, Jose Guevara-Campos, Neil A Hanchard, Concepcion Hernández-Chico, LaDonna Immken, Sandra Janssens, Kristi J Jones, Beth A Keena, Aaina Kochhar, Jan Liebelt, Arelis Martir-Negron, Maurice J Mahoney, Isabelle Maystadt, Carey McDougall, Meriel McEntagart, Nancy Mendelsohn, David T Miller, Geert Mortier, Jenny Morton, John Pappas, Scott R Plotkin, Dinel Pond, Kenneth Rosenbaum, Karol Rubin, Laura Russell, Lane S Rutledge, Veronica Saletti, Rhonda Schonberg, Allison Schreiber, Meredith Seidel, Elizabeth Siqveland, David W Stockton, Eva Trevisson, Nicole J Ullrich, Meena Upadhyaya, Rick van Minkelen, Helene Verhelst, Margaret R Wallace, Yoon-Sim Yap, Elaine Zackai, Jonathan Zonana, Vickie Zurcher, Kathleen Claes, Yolanda Martin, Bruce R Korf, Eric Legius, Ludwine M Messiaen
Neurofibromatosis type 1 (NF1), a common genetic disorder with a birth incidence of 1:2,000-3,000, is characterized by a highly variable clinical presentation. To date, only two clinically relevant intragenic genotype-phenotype correlations have been reported for NF1 missense mutations affecting p.Arg1809 and a single amino acid deletion p.Met922del. Both variants predispose to a distinct mild NF1 phenotype with neither externally visible cutaneous/plexiform neurofibromas nor other tumors. Here, we report 162 individuals (129 unrelated probands and 33 affected relatives) heterozygous for a constitutional missense mutation affecting one of five neighboring NF1 codons-Leu844, Cys845, Ala846, Leu847, and Gly848-located in the cysteine-serine-rich domain (CSRD)...
December 21, 2017: American Journal of Human Genetics
https://www.readbyqxmd.com/read/29290324/-mucosal-schwann-cells-hamartoma-review-of-a-recently-described-entity
#7
Francisco García-Molina, José Antonio Ruíz-Macia, Joaquin Sola
Neural lesions of the colon may be masses (schwannomas and neurofibromas) or, more frequently, small polyps including perineuromas, ganglioneuromas and granular cell tumors. Some neural lesions are associated with congenital syndromes (neurofibromatosis-1, multiple endocrine neoplasia-2B). Recently, a new entity has been described named mucosal Schwann cell hamartoma, consisting of an intramucosal neural proliferation; to date, less than forty cases have been reported. We report a further case in a patient from whom a polyp was extirpated during colonoscopy screening...
January 2018: Revista Española de Patología
https://www.readbyqxmd.com/read/29288991/nerve-ultrasound-in-neurofibromatosis-type-1-a-follow-up-study
#8
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To investigate development of sonographic abnormalities and applications of high-resolution ultrasonography (HRUS) in neurofibromatosis type 1 (NF1). METHODS: Sixteen asymptomatic or minimally symptomatic NF1 patients underwent HRUS at inclusion and 1 year follow-up. Upper and lower extremity nerves were investigated. Peripheral nerve involvement was graded. RESULTS: Plexiform neurofibromas (PNFs) were found in 7 patients (43...
November 26, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/29274929/intrapericardial-neurofibromatosis-with-coronary-involvement-a-case-report
#9
E A Moghadam, M A Navabi Shirazi, M R Mirzaaghayan, M Nikoufar, A Ghamari
Neurocutaneous syndromes are heterogenous diseases that are diagnosed in the presence of skin and central nervous system disorders. Neurofibromatosis (NF) is one of these disorders, with autosomal dominant inheritance, that causes tumors that grow on nerves as well as other abnormalities such as skin changes and bone deformities. The most common form of NF is type I. A 6-year-old Iranian boy with neurofibromatosis was referred to the pediatric cardiology clinic due to a soft holosystolic murmur discovered on routine examination...
December 20, 2017: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://www.readbyqxmd.com/read/29248317/volumetric-mri-in-neurofibromatosis-type-1-nf1-comes-of-age-to-help-determine-initiation-and-monitoring-of-targeted-therapies-for-plexiform-neurofibromas
#10
EDITORIAL
David Viskochil, Luke L Linscott
No abstract text is available yet for this article.
December 13, 2017: Academic Radiology
https://www.readbyqxmd.com/read/29246097/neurofibromatosis-clinical-trial-consortium
#11
Roger J Packer, Michael J Fisher, Gary Cutter, Karen Cole-Plourde, Bruce R Korf
Neurofibromatosis type 1 and type 2, affecting both children and adults, often results in devastating complications. The rapid unravelling of the genetic underpinnings of these unique disorders has led to the development of novel therapies, especially molecular-targeted therapies. To facilitate clinical trial development, the Neurofibromatosis Clinical Trial Consortium (NFCTC) was established in 2006 by the Department of Defense. Over the past decade, the Consortium has successfully completed studies for children and adults with neurofibromatosis type 1 and plexiform neurofibromas, neurocognitive challenges, low-grade gliomas, and malignant peripheral nerve sheath tumors...
January 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29225876/asymptomatic-giant-retroperitoneal-mass-detected-at-a-medical-checkup
#12
Tsutomu Takeda, Daisuke Asaoka, Yuki Fukumura, Sumio Watanabe
The differential diagnosis of retroperitoneal mass includes liposarcoma, leiomyosarcoma, malignant fibrous histiocytoma, neurofibroma, stromal tumor, teratoma, and lymphoma. Leiomyosarcoma is rare with poorer prognosis than other soft tissue sarcomas. Soft tissue sarcoma of retroperitoneal origin often remains asymptomatic until tumor enlargement, leading to diagnosis at advanced stages.
December 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/29221337/a-case-report-of-giant-esophageal-neurofibroma
#13
Men Yang, Dongni Chen, Xiaoyan Gao, Zhesheng Wen
Esophageal neurofibroma is a rare type of benign esophageal tumor. We presented a case of a 63-year-old man with a 12-cm diameter upper-thoracic esophageal submucosal tumor. Surgery of a thoracotomy was performed to remove the lesion. The postoperative course was uneventful and the patient was discharged on the postoperative day 10. Immunohistochemical staining confirmed the diagnosis of esophageal neurofibroma.
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29214122/peripheral-nerve-sheath-tumors-of-the-upper-extremity-and-hand-in-patients-with-neurofibromatosis-type-1-topography-of-tumors-and-evaluation-of-surgical-treatment-in-62-patients
#14
Reinhard E Friedrich, Caroline Diekmeier
Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. This study examines the surgical procedures that have been performed on large PNST of the upper limb and hand, and investigates whether a specific distribution pattern of the tumors can be detected in surgically treated cases...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/29206885/does-elevated-glucose-metabolism-correlate-with-higher-cell-density-in-neurofibromatosis-type-1-associated-peripheral-nerve-sheath-tumors
#15
Dominik Berzaczy, Marius E Mayerhoefer, Amedeo A Azizi, Alexander R Haug, Daniela Senn, Dietrich Beitzke, Michael Weber, Tatjana Traub-Weidinger
PURPOSE: To investigate whether elevated glucose metabolism in neurofibroma, determined by [F18]-FDG-PET, is correlated with cell density in MRI, as expressed through the apparent diffusion coefficient. MATERIALS AND METHODS: Patients diagnosed with neurofibromatosis type 1 and peripheral nerve sheath tumors (PNST) were enrolled in this prospective, IRB-approved study. After a single [F18]-FDG injection, patients consecutively underwent [F18]-FDG-PET/CT and [F18]-FDG-PET/MRI on the same day...
2017: PloS One
https://www.readbyqxmd.com/read/29204240/a-rare-case-of-diffuse-neurofibroma-masquerading-as-a-hemangioma-a-radiological-perspective
#16
Shaista Siddiqui, Zafar Ahmad Khan, Shagufta Wahab, Kafil Akhtar, Farhat Huma Ansari, Nani Lampung
Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Here, we report the case of a 16-year-old girl who presented with the complaint of a gradually progressive swelling around the right ankle and heel, which was initially diagnosed as a case of a vascular malformation...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29201976/palisaded-encapsulated-solitary-circumscribed-neuroma-of-the-buccal-mucosa-a-rare-case
#17
Saede Atarbashi-Moghadam, Ali Lotfi, Saman Salehi Zalani, Sepideh Mokhtari
The rarity of oral soft tissue spindle cell tumors combined with overlapping microscopic patterns can make challenges in their diagnosis and treatment. Oral cavity palisaded encapsulated neuroma is an uncommon lesion which occurs often on the hard palate. It is essential for oral pathologists to be familiar with its histopathology of this lesion is essential since many lesions are probably diagnosed microscopically as neurofibroma or schwannoma. Here, we report a case of oral palisaded encapsulated (solitary circumscribed) neuroma in an unusual site...
December 2017: Journal of Dentistry
https://www.readbyqxmd.com/read/29198560/lipoamide-inhibits-nf1-deficiency-induced-epithelial-mesenchymal-transition-in-murine-schwann-cells
#18
Yuchen Zhang, Rongsheng Zhou, Yiping Qu, Maoguo Shu, Shuzhong Guo, Zhuanli Bai
BACKGROUND AND AIMS: Neurofibromatosis type I (NF1) is one of the most common neurocutaneous syndromes characterized by development of adult neurofibromas which is mainly made up of Schwann cells. The disease is generally accepted to be caused by inactivation mutation of Nf1 gene. And Nf1 deficiency had been reported to lead to ROS overproduction and epithelial-mesenchymal transition (EMT) phenotype. This study was designed to investigate whether excessive ROS conferred to Nf1 deficiency-induced EMT in Schwann cells...
November 29, 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/29187472/pilomatrixoma-of-the-neck-shoulder-region-mimicking-a-rapidly-growing-neoplasm-of-peripheral-nerve-sheath-origin-in-neurofibromatosis-type-1
#19
Reinhard E Friedrich, Ulrich Schüller, Christian Hagel
Neurofibromatosis type 1 (NF1) is an autosomal dominant hereditary disorder. Neurofibroma is the most common neoplasm of this disease. This lesion is characterized by circumscribed soft or knotty skin tumors derived from peripheral nerve sheath cells. Numerous other neoplasms have been described for this tumor predisposition syndrome. This case report adds the diagnostic and therapeutic procedures in the case of an NF1 patient in whom the rapidly growing, nodular, subcutaneous tumor initially led to the suspicion of a malignant neoplasm...
December 2017: Anticancer Research
https://www.readbyqxmd.com/read/29185159/the-effect-of-estradiol-testosterone-and-human-chorionic-gonadotropin-on-the-proliferation-of-schwann-cells-with-nf1-or-nf1-genotype-derived-from-human-cutaneous-neurofibromas
#20
Paula Pennanen, Sirkku Peltonen, Roope A Kallionpää, Juha Peltonen
Dermal neurofibromas are the hallmarks of neurofibromatosis type 1 (NF1). Neurofibromas harbor Schwann cells with two different genotypes: Schwann cells which carry the germline mutation and a healthy NF1 allele (NF1 +/-), and a subpopulation of Schwann cells which harbor the so-called second hit leading to inactivation of both NF1 alleles (NF1 -/-). The second hit in the NF1 gene of Schwann cells is considered to be the initial step in the development of neurofibromas. Dermal neurofibromas typically start to grow in puberty, and their number and size increase during pregnancy, indicating hormone responsiveness...
November 28, 2017: Molecular and Cellular Biochemistry
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