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Neurofibromas

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https://www.readbyqxmd.com/read/28448720/mosaic-neurofibromatosis-type-1-in-children-a-single-institution-experience
#1
Irene Lara-Corrales, Mitra Moazzami, Maria Teresa García-Romero, Elena Pope, Patricia Parkin, Andrea Shugar, Peter Kannu
BACKGROUND: Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder caused by loss-of-function mutation in the NF1 gene. Segmental or mosaic NF1 (MNF) is an uncommon presentation of the NF1 result of postzygotic mutations that present with subtle localised clinical findings. OBJECTIVES: Our study's objectives were to describe the clinical characteristics of children with MNF. METHODS: We conducted a cross-sectional study of children diagnosed with MNF at the Hospital for Sick Children in Toronto, Canada, from January 1992 to September 2012...
April 1, 2017: Journal of Cutaneous Medicine and Surgery
https://www.readbyqxmd.com/read/28442864/multiple-plexiform-neurofibroma-of-the-hand-misdiagnosed-as-ganglion-cyst
#2
Daniel Dreyfuss, Ido Stahl, Edward Calif
No abstract text is available yet for this article.
April 2017: Journal of Hand and Microsurgery
https://www.readbyqxmd.com/read/28429332/the-effect-of-post-injection-18-f-fdg-pet-scanning-time-on-texture-analysis-of-peripheral-nerve-sheath-tumours-in-neurofibromatosis-1
#3
Eitan Lovat, Musib Siddique, Vicky Goh, Rosalie E Ferner, Gary J R Cook, Victoria S Warbey
BACKGROUND: Texture features are being increasingly evaluated in (18)F-fluorodeoxyglucose positron emission tomography ((18)F-FDG PET) as adjunctive imaging biomarkers in a number of different cancers. Whilst studies have reported repeatability between scans, there have been no studies that have specifically investigated the effect that the time of acquisition post-injection of (18)F-FDG has on texture features. The aim of this study was to investigate if texture features change between scans performed at different time points post-injection...
December 2017: EJNMMI Research
https://www.readbyqxmd.com/read/28413392/t-cell-lymphoma-in-a-patient-with-neurofibromatosis-type-1-and-aids
#4
Izana Junqueira de Castro, Esther Botelho Soares da Silva, Talita Rezende Dos Santos, Amanda Barroso de Freitas, Inara Junqueira de Castro, Alessandra Santos Portela, Marilza Campos de Magalhães, Karina Lebeis Pires, Guilherme Almeida Rosa da Silva, Marcelo Costa Velho Mendes de Azevedo
Neurofibromatosis type 1 (NF1) and AIDS are risk factors for the development of malignant neoplasms, including hematological malignancies, such as non-Hodgkin lymphoma. NF1 is an autosomal dominant disease that primarily manifests as café-au-lait spots, dermal neurofibromas, axillary and/or inguinal ephelides or freckles, plexiform neurofibromas, Lisch nodules, and bone deformities. In this report, we present a 38-year-old female patient with NF1 from childhood and AIDS who developed peripheral T-cell lymphoma with good response to chemotherapeutic treatment...
January 2017: Case Reports in Oncology
https://www.readbyqxmd.com/read/28405569/plexiform-neurofibroma-overlying-giant-caf%C3%A3-au-lait-macule
#5
Sanjiv V Choudhary, Anuja A Dhope, Ruchi Singh, Pravin Tidke
No abstract text is available yet for this article.
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28405554/arteriovenous-malformation-underlying-a-plexiform-neurofibroma-an-unusual-presentation
#6
Zaheer Abbas, Sepideh Khani, Javad Zare
Vascular abnormalities associated with neurofibromatosis type 1 are well described in the literature, however, arteriovenous malformation is a very rare finding in neurofibromatosis type 1. We report the case of an 11-year-old girl who presented with a soft mass on the right flank. Provisional diagnosis of plexiform neurofibroma was made on the basis of clinical and histological observations. Because the lesion was warm on palpation, imaging studies were performed to evaluate further and arteriovenous malformation was detected underlying the plexiform neurofibroma...
March 2017: Indian Dermatology Online Journal
https://www.readbyqxmd.com/read/28403573/desmoplastic-melanoma-may-mimic-a-cutaneous-peripheral-nerve-sheath-tumor-report-of-three-challenging-cases
#7
Isidro Machado, Beatriz Llombart, Julia Cruz, Víctor Traves, Celia Requena, Eduardo Nagore, Antonina Parafioriti, Carlos Monteagudo, Antonio Llombart-Bosch
Desmoplastic melanoma (DM) and cutaneous malignant peripheral nerve sheath tumors (MPNST) reveal histological and immunohistochemical similarities, including S100 positivity and negative staining for conventional melanocytic markers. We present three cases of cutaneous S100-positive spindle cell tumors in elderly patients, in which first findings led to initial misdiagnoses as cutaneous MPNST and benign peripheral sheath nerve tumor (neurofibroma). The identification of adjacent atypical melanocytic hyperplasia in the overlying skin along with tumor cell proliferation, also in the superficial dermis, the neurotropic component and the absence of any relationship between the tumor and a major nerve, pre-existing neural benign tumor or the existence of stigmata suggestive of neurofibromatosis raised consideration of a desmoplastic melanoma...
April 12, 2017: Journal of Cutaneous Pathology
https://www.readbyqxmd.com/read/28403237/evidence-of-neurofibromatosis-type-1-in-a-multi-morbid-inca-child-mummy-a-paleoradiological-investigation-using-computed-tomography
#8
Stephanie Panzer, Holger Wittig, Stephanie Zesch, Wilfried Rosendahl, Sandra Blache, Magdalena Müller-Gerbl, Gerhard Hotz
OBJECTIVE: In this study, an Inca bundle was examined using computed tomography (CT). The primary aim was to determine the preservation status of bony and soft tissues, the sex, the age at the time of death, possible indicators for disease or even the cause of death, as well as the kind of mummification. A secondary aim was to obtain a brief overview of the wrapping in order to gain additional information on the cultural background. MATERIALS AND METHODS: The bundle belongs to the Museum of Cultures in Basel, Switzerland, and was bought in Munich, Germany, in 1921...
2017: PloS One
https://www.readbyqxmd.com/read/28401031/sella-turcica-measurements-on-lateral-cephalograms-of-patients-with-neurofibromatosis-type-1
#9
Reinhard E Friedrich, Johanna Baumann, Anna Suling, Hannah T Scheuer, Hanna A Scheuer
The aim of this study was to measure line segments and areas of sella turcica on lateral cephalograms with respect to the clinical diagnosis of facial phenotype of patients with neurofibromatosis type 1 (NF1). Special attention was given to correlate the measured values with certain tumour types that are typical for this disease. Material and methods: Lateral cephalograms of 194 individuals were investigated. Patients with NF1 were further divided according to the detection and topography of facial plexiform neurofibromas (PNF) taking into account the distribution pattern of the trigeminal nerve...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/28398289/a-high-throughput-molecular-data-resource-for-cutaneous-neurofibromas
#10
Sara J C Gosline, Hubert Weinberg, Pamela Knight, Thomas Yu, Xindi Guo, Nripesh Prasad, Angela Jones, Shristi Shrestha, Braden Boone, Shawn E Levy, Salvatore La Rosa, Justin Guinney, Annette Bakker
Neurofibromatosis type 1 (NF1) is a genetic disorder with a range of clinical manifestations such as widespread growth of benign tumours called neurofibromas, pain, learning disorders, bone deformities, vascular abnormalities and even malignant tumours. With the establishment of the Children's Tumour Foundation biobank, neurofibroma samples can now be collected directly from patients to be analysed by the larger scientific community. This work describes a pilot study to characterize one class of neurofibroma, cutaneous neurofibromas, by molecularly profiling of ~40 cutaneous neurofibromas collected from 11 individual patients...
April 11, 2017: Scientific Data
https://www.readbyqxmd.com/read/28387148/malignant-triton-tumor-malignant-peripheral-nerve-sheath-tumor-with-rhabdomyoblastic-differentiation-occurring-in-a-vascularized-free-flap-reconstruction-graft
#11
Roopa Ram, Jerad Gardner, Sindhura Alapati, Kedar Jambhekar, Tarun Pandey, Corey Montgomery, Richard Nicholas
Malignant peripheral nerve sheath tumor (MPNST) is a rare form of sarcoma arising from Schwann cells or pluripotent cells of the neural crest. Malignant triton tumor (MTT) is a subtype of MPNST with a component of malignant rhabdomyoblasts in addition to malignant Schwann cells. MPNST and MTT are both aggressive malignancies that most commonly arise from large deep neurofibromas in patients with neurofibromatosis type 1 (NF-1). However, sporadic non-NF-1 cases of MTT have also been reported in the literature...
April 1, 2017: International Journal of Surgical Pathology
https://www.readbyqxmd.com/read/28384986/intraosseous-neurofibroma-of-the-mandible-a-case-report-and-review-of-literature
#12
Bindiya Ramesh Narang, Sangeeta Jayant Palaskar, Anirudha Ratnadeep Bartake, Rasika Balkrishna Pawar, Sumit Rongte
Neurofibroma (NF) is a benign tumor of the peripheral nervous system. Head and neck NF are generally located in the soft tissue. The tumour is rarely seen intraosseously and most commonly such tumours are seen as solitary lesions, rather than part of neurofibromatosis. The following report describes a case of an intraosseous neurofibroma in a 45-year-old male located in the left posterior mandible. The diagnosis was made based on the clinical findings, radio graphical features, histopathology, and immunohistochemistry...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28384930/intrascrotal-muscular-myxoma-a-case-report
#13
Prasanna Kumar Debata, Vivek G Nath, Ramakant Mohanty, Jitendra Kumar Barad, Debasis Debata
Myxomas are gelatinous tumours that commonly appear as circumscribed masses situated within muscles. It can occur at various sites. However, mostly found in cardiac muscles and skeletal muscles of extremities. Published cases of intrascrotal myxoma are rare in literature. A 28-year-old male was admitted to our General Surgery Department with a history of a gradually enlarging mass in the scrotum and scrotal discomfort since two years. After cytological and imaging investigations, a scrotal exploration was performed with plexiform neurofibroma as the preoperative diagnosis...
February 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28381935/bilateral-mirror-image-cervical-neurofibroma-in-an-adult-with-neurofibromatosis-type-1
#14
Sharad Pandey, Kulwant Singh, Vivek Sharma, Mohammed Tabish Khan, Amrita Ghosh, Deepa Santhosh
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder characterised by various phenotypic features like hyperpigmented spots, neurofibromas, Lisch nodules, skeletal abnormalities and tendency to develop neoplasms. Only few cases of Non-Familial Spinal Neurofibromatosis-1 (Non-FSNF1) have been described in literature with tumors involving the spinal roots at every level being even rarer. We reported an interesting case of bilateral symmetrical cervical neurofibroma with multiple spinal neurofibromas appearing as mirror image on CT, associated with non familial NF-1 as a rare presentation in a 25-year-old adult male...
March 2017: Malaysian Journal of Medical Sciences: MJMS
https://www.readbyqxmd.com/read/28374718/-pelvic-plexiform-neurofibroma-in-recklinghausen-disease
#15
A G Kriger, S V Berelavichus, I S Polyakov, A B Varava, A I Son, B G Akhmedov, Yu S Gal'china
No abstract text is available yet for this article.
2017: Khirurgiia
https://www.readbyqxmd.com/read/28367345/pure-testicular-seminoma-relapsing-late-with-somatic-type-malignancy
#16
Klaus-Peter Dieckmann, Petra Anheuser, Ralf Gehrckens, Waldemar Wilczak, Guido Sauter, Doris Höflmayer
Background. Somatic type malignancy (STM) occurs in 2% of all germ cell tumours (GCTs). The prognosis is unfavourable and the origin is poorly understood. Pathogenetic hypotheses involve direct transformation of teratoma, origin from totipotent cancer cells, or derivation from yolk sac tumour elements. Case Presentation. A 31-year-old patient was cured from testicular seminoma clinical stage IIc by orchiectomy and cisplatin-based chemotherapy. Nine years later, he experienced a late relapse with a mass sized 5 × 6 cm located at the former metastatic site...
2017: Case Reports in Oncological Medicine
https://www.readbyqxmd.com/read/28365079/a-lateral-cephalometry-study-of-patients-with-neurofibromatosis-type-1
#17
Reinhard E Friedrich, Jan-Marten Lehmann, Jonathan Rother, Georg Christ, Christine Zu Eulenburg, Hannah T Scheuer, Hanna A Scheuer
PURPOSE: Neurofibromatosis type 1 (NF1) is an autosomal dominant transmitted tumour suppressor syndrome and also a bone disease. Osseous dysplasia affecting the craniofacial region is characteristic of NF1. The aim of this study was to analyse the lateral cephalograms of NF1 patients in comparison to individuals who were not affected by this condition in order to describe the skeletal phenotype of NF1 in more detail. MATERIALS AND METHODS: The study comprises the lateral cephalograms of 172 patients with established NF1 diagnoses (female = 85, male = 87)...
February 20, 2017: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/28359484/occult-internal-mammary-artery-neurofibromatosis-a-case-for-caution-in-coronary-revascularization
#18
Stefanos Boukovalas, Myrto Boukovala, Patrick T Roughneen, Suimmin Qiu, Ghannam A Al-Dossari
Intrathoracic neurofibromas are relatively uncommon in patients with neurofibromatosis. They are usually asymptomatic and may be discovered incidentally. We present the case of a 51-year-old, African American man with neurofibromatosis type 1 who underwent coronary revascularization. Intraoperatively, numerous neurofibromas were discovered, one of which was attached to the left internal mammary artery. The procedure was uncomplicated despite the challenging intraoperative findings. Special considerations in the management of patients with neurofibromatosis undergoing cardiac surgery are discussed, including risks, preoperative imaging and the importance of excision of suspicious tumors...
April 2017: Annals of Thoracic Surgery
https://www.readbyqxmd.com/read/28341644/nerve-ultrasound-a-useful-screening-tool-for-peripheral-nerve-sheath-tumors-in-nf1
#19
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
OBJECTIVE: To determine ultrasonographic peripheral nerve involvement in patients with asymptomatic neurofibromatosis type 1 (NF1). METHODS: Thirteen asymptomatic and 4 minimally symptomatic patients with NF1 were included in this cross-sectional pilot study to detect asymptomatic abnormalities of the brachial plexus and upper and lower extremity nerves. Patients underwent clinical examination, nerve conduction studies (NCS), and high-resolution ultrasonography (HRUS)...
March 24, 2017: Neurology
https://www.readbyqxmd.com/read/28340171/immunohistochemical-approach-to-the-differential-diagnosis-of-meningiomas-and-their-mimics
#20
Camille Boulagnon-Rombi, Clémence Fleury, Caroline Fichel, Sophie Lefour, Aude Marchal Bressenot, Guillaume Gauchotte
The differential diagnosis between meningioma and others tumors can be challenging. This study aimed to evaluate different immunohistochemical markers for the differential diagnosis between meningioma and their morphological mimics. Immunohistochemistry was performed on tissue microarray with antiepithelial membrane antigen (EMA), progesterone receptor, somatostatin receptor 2A (SSTR2A), CD34, STAT6, S100, SOX10, HMB45, MelanA, GFAP, inhibin, and BCL2 antibodies. One hundred and twenty-seven meningiomas, 26 solitary fibrous tumor/hemangiopericytomas (SFT/HPC), 39 schwannomas, 17 hemangioblastomas, 21 melanomas, 9 gliosarcomas, 5 neurofibromas, 9 peripheral primitive neuroectodermal tumors, 7 synovial sarcomas, and 5 malignant peripheral nerve sheath tumors were included in the microarray...
April 1, 2017: Journal of Neuropathology and Experimental Neurology
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