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Neurofibromas

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https://www.readbyqxmd.com/read/27900489/an-association-of-peripheral-nerve-sheath-tumors-and-lipomas
#1
Mohamed A Elsherif, Dusica Babovic-Vuksanovic, Robert J Spinner
BACKGROUND: We noticed the coexistence of peripheral nerve sheath tumors (PNST) with lipomas within a subgroup of our patients. Given the prevalence of lipomas in the general population, we sought to investigate the extent of coexistence of the two entities aiming at uncovering any plausible association between both. METHODS: A retrospective review of all peripheral nerve sheath tumors (sporadic and syndromic forms) treated by a single surgeon between January 2009 and August 2015 was done...
November 30, 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27894574/an-overview-of-pre-expanded-perforator-flaps-part-2-clinical-applications
#2
REVIEW
Chunmei Wang, Jing Zhang, Hiko Hyakusoku, Ping Song, Lee L Q Pu
Pre-expanded perforator flaps have several advantages over their traditional counterparts owing to the thin, more pliable nature, larger size, and minimum morbidity of the donor site. Recently, plastic surgeons have begun to use pre-expanded perforator flaps to reconstruct defects of almost the entire body, including the cervicofacial region, axilla, trunk, and extremities resulting from scar, congenital melanocytic nevi, hemangiomas, and neurofibromas. Such a versatile flap is especially appropriate for face and neck resurfacing, which requires more optimal functional and cosmetic outcomes...
January 2017: Clinics in Plastic Surgery
https://www.readbyqxmd.com/read/27891041/spinal-intradural-hydatid-cyst-causing-arachnoiditis-a-rare-etiology-of-cauda-equina-syndrome
#3
Suyash Singh, Jayesh Sardhara, Amit Kumar Singh, Arun Kumar Srivastava, Kamlesh Singh Bhaisora, Kuntal Kanti Das, Anant Mehrotra, Rabi N Sahu, Awadhesh Kumar Jaiswal, Sanjay Behari
This study aims to focus on a rare presentation of spinal hydatid cyst as cauda equine syndrome and misdiagnosed as intradural extramedullary (IDEM) benign lesion on magnetic resonance imaging. In this article, we report a case of spinal hydatid cyst masquerading as IDEM tumor, and intraoperatively, we accidently find clumped granuloma with severe arachnoiditis and hydatid cyst in lumber region, which was present as bilateral S1 radiculopathy with cauda equina syndrome. An 11-year-old boy who presented with symptoms and signs of cauda equina syndrome and planned for surgical excision...
October 2016: Journal of Craniovertebral Junction and Spine
https://www.readbyqxmd.com/read/27879515/atypical-spindle-cell-lipomatous-tumor-clinicopathologic-characterization-of-232-cases-demonstrating-a-morphologic-spectrum
#4
Adrian Mariño-Enriquez, Alessandra F Nascimento, Azra H Ligon, Cherwei Liang, Christopher D M Fletcher
The classification of atypical adipocytic neoplasms with spindle cell features remains challenging. To better define this category of low-grade lipomatous neoplasms, we present herein the clinical, histologic, and immunohistochemical characteristics of a large series of 232 atypical spindle cell lipomatous tumors. The lesions affected 140 males and 92 females, at an average age of 54 years (range, 6 to 87 y), clinically presenting as a persistent or enlarging mass with a median size of 5 cm. The anatomic distribution of the tumors was wide, predominating in the limbs and limb girdles (147 cases, 63%), mainly in the hands and feet (17% and 11%, respectively), with equal distribution between subcutaneous and deeper locations...
November 22, 2016: American Journal of Surgical Pathology
https://www.readbyqxmd.com/read/27874161/diffusion-weighted-magnetic-resonance-imaging-in-the-diagnosis-of-parotid-masses-preliminary-results
#5
Zeynel Yologlu, Hasan Aydin, Nalan A Alp, Bilgin K Aribas, Volkan Kizilgoz, Kemal Arda
To demonstrate the diagnostic potentials of MRI, diffusion weighted imaging (DWI), and apparent diffusion coefficient (ADC) mapping in the detection of parotid masses correlated to the histopathological results. Methods: Study design was retrospective. Fifteen patients with parotid gland masses were included as the study group and contralateral normal parotis glands of same patients were taken as the control group. Patients with bilateral parotid gland tumors were excluded, 7 right-sided and 8 left-sided parotid masses were included in the research...
December 2016: Saudi Medical Journal
https://www.readbyqxmd.com/read/27862945/analysis-of-copy-number-variants-in-11-pairs-of-monozygotic-twins-with-neurofibromatosis-type-1
#6
Emily R Sites, Teresa A Smolarek, Lisa J Martin, David H Viskochil, David A Stevenson, Nicole J Ullrich, Ludwine M Messiaen, Elizabeth K Schorry
Phenotypic variability among individuals with neurofibromatosis type 1 (NF1) has long been a challenge for clinicians and an enigma for researchers. Members of the same family and even identical twins with NF1 often demonstrate variable disease expression. Many mechanisms for this variability have been proposed. We have performed an exploratory study of copy number variants (CNVs) as a possible source of phenotypic variability in NF1. We enrolled 11 pairs of monozygotic (MZ) twins with NF1 and their parents, catalogued their clinical characteristics, and utilized a single nucleotide polymorphism (SNP) microarray to identify CNVs in blood and saliva...
November 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27857802/giant-melanocytic-nevi-with-neurocutaneous-melanosis-masquerading-as-neurofibromas
#7
Vykuntaraju K Gowda, Anita Basude, Sahana M Srinivas, Maya Bhat
Neurocutaneous melanosis is congenital melanocytic nevus with neurological manifestations. We report a 4-year-old female child presenting with hyperpigmented and nodular skin lesion associated with developmental delay and convulsions. The child had multiple brownish-black nevi on the face and chest and giant melanocytic nevi on thoraco-abdomen, back, and gluteal region. Computed tomography scan of the brain showed calcification in the pons, right cerebellar hemisphere, and left medial temporal lobe. Skin biopsy done from nodular hyperpigmented site was suggestive of melanocytic nevi...
July 2016: Journal of Pediatric Neurosciences
https://www.readbyqxmd.com/read/27857458/magnetic-resonance-neurographic-confirmation-of-extensive-plexiform-neurofibroma-in-neurofibromatosis-1-presenting-as-ambiguous-genitalia
#8
Ishan Kumar, Ashish Verma, Ritu Ojha, Priyanka Aggarwal, Ram C Shukla, Arvind Srivastava
Genitourinary involvement of neurofibromatosis is uncommon and genital neurofibromatosis is even rarer. Involvement of clitoris by neurofibroma can lead to clitoromegaly masquerading as a male penis. We report such a case of ambiguous genitalia in a 7-year-old female child presenting with clitoromegaly since birth, in which magnetic resonance imaging (MRI) revealed the presence of extensive neurofibromatosis in the clitoris and lumbosacral regions. We emphasize the central role of MRI in evaluation of hormonal and non-hormonal causes of ambiguous genitalia...
July 2016: Indian Journal of Radiology & Imaging
https://www.readbyqxmd.com/read/27846400/spinal-cordectomy-a-new-hope-for-morbid-spinal-conditions
#9
REVIEW
Subhas K Konar, Tanmoy K Maiti, Shyamal C Bir, Anil Nanda
A spinal cordectomy is a treatment option for several disorders of the spinal cord like post-traumatic syringomyelia, spinal cord tumor and myelomeningocele. We have done a systematic analysis of all reported cases of spinal cordectomy to investigate the possible outcomes and complications. A PubMed search was performed for literature published from 1949 to 2015 with search words "spinal cordectomy", "spinal cord transection" and "cordectomy for malignant spinal cord tumors" to select articles containing information about the indication, outcome and complication of spinal cordectomy performed for diverse etiologies...
November 10, 2016: Clinical Neurology and Neurosurgery
https://www.readbyqxmd.com/read/27833986/dermal-plexiform-spindle-cell-lipoma
#10
José Fernando Val-Bernal, Sandra Hermana
Spindle cell lipoma located in the dermis is uncommon. The plexiform variant of this tumor is rare. In fact, only six cases of this variant have been described previously. We report herein a case of dermal plexiform spindle cell lipoma with prominent myxoid matrix. A 47-year-old male patient presented with a solitary, 2.2 cm-cutaneous mass in the right buttock region that had slowly increased in size for over one year. The dermal lesion was characterized by a mixture of mature adipocytes, spindle shaped cells and inconspicuous ropey collagen bundles in a mucinous background...
2016: Romanian Journal of Morphology and Embryology, Revue Roumaine de Morphologie et Embryologie
https://www.readbyqxmd.com/read/27824540/plexiform-neurofibroma
#11
Satvinder Singh Bakshi
No abstract text is available yet for this article.
November 2016: Cleveland Clinic Journal of Medicine
https://www.readbyqxmd.com/read/27817916/orbital-periorbital-plexiform-neurofibromas-in-children-with-neurofibromatosis-type-1-multidisciplinary-recommendations-for-care
#12
Robert A Avery, James A Katowitz, Michael J Fisher, Gena Heidary, Eva Dombi, Roger J Packer, Brigitte C Widemann
TOPIC: Children and adults with neurofibromatosis type 1 (NF1), a common autosomal dominant condition, manifest a variety of ophthalmologic conditions. Plexiform neurofibromas (PNs) involving the eyelid, orbit, periorbital, and facial structures (orbital-periorbital plexiform neurofibroma [OPPN]) can result in significant visual loss in children. Equally important, OPPNs can cause significant alteration in physical appearance secondary to proptosis, ptosis, and facial disfigurement, leading to social embarrassment and decreased self-esteem...
November 3, 2016: Ophthalmology
https://www.readbyqxmd.com/read/27816720/multivacuolated-mucin-filled-cells-a-unique-cell-characteristic-of-plexiform-neurofibroma-a-report-of-11-cases
#13
Michael Michal, Dmitry V Kazakov, Ladislav Hadravský, Květoslava Michalová, Boris Rychlý, Michal Michal
The authors present 11 cases of plexiform neurofibroma (PN) that featured a very characteristic type of cell appearing as multivacuolated mucin-filled cells (MMFC). The 11 cases were obtained after reviewing 109 cases of PN. Six out of 10 patients showed clinical features of neurofibromatosis type 1 (NF1). The size of PN ranged from 0.8 cm to 11.5 cm in the largest dimension. The lesions represented classical PN in all cases with myxoid, hypocellular stroma. The MMFC were found within the most myxoid tumorous nodules and were haphazardly located, typically featuring a variably sized, multivacuolated cytoplasm divided by a fine septa with a small polygonal nucleus on one side, which was often compressed or slightly indented by the cytoplasmic mucous substances...
November 2, 2016: Human Pathology
https://www.readbyqxmd.com/read/27815662/knowledge-and-self-esteem-of-individuals-with-neurofibromatosis-type-1-nf1
#14
Kayla Rosnau, S Shahrukh Hashmi, Hope Northrup, John Slopis, Sarah Noblin, Myla Ashfaq
Neurofibromatosis Type 1 (NF1) is a progressive genetic disorder characterized by physical findings such as café-au-lait macules, Lisch nodules, and neurofibromas in addition to other medical complications. Learning and social problems are more prevalent among individuals affected with NF1. It has been reported that people with NF1 have lower self-esteem (SE) when compared to the general population. Additionally, a study published over 20 years ago found that overall knowledge of NF1 was lacking in individuals affected with the condition...
November 4, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27805557/-retroperitoneal-tumor-neurofibroma
#15
Paul Eduardo Lada, Daniela Marriot, Carlos Sanchez Tasonne, Martin Sanchez, Fabian Caballero, Martin Massa
The neurofibroma is a benign tumor that grows from the sheath of the peripheral nerves, which is often localized on superficial tissues, especially in isolated forms. The neurofibromas can be of two types, localized or diffuse, the last one closely related to Von Recklinghausen disease or NF-1. We described a 37 years old male e patient, 37 years without symptoms, and the computed tomography scan (CT), and magnetic resonance imaging showed a tumor in proximity to the right kidney, the psoas muscle, the spine and compressing the cava vein, but cannot be accurately determinate the invasion of these structures...
2016: Revista de la Facultad de Ciencias Médicas
https://www.readbyqxmd.com/read/27801698/magnetic-resonance-neurographic-and-clinical-long-term-results-after-oberlin-s-transfer-for-adult-brachial-plexus-injuries
#16
Florian S Frueh, Michael Ho, Andreas Schiller, Pascal Ducommun, Andrei Manoliu, Gustav Andreisek, Maurizio Calcagni, Pietro Giovanoli
The primary goal of the surgical treatment of upper brachial plexus injuries is to restore active elbow flexion. Accordingly, Oberlin's transfer has been frequently performed since 1994 and has influenced the development of other nerve transfers. However, the window of opportunity for nerve transfers remains a subject of controversy. The objective of this study was to assess magnetic resonance (MR) neurographic, clinical and electrophysiological long-term results after Oberlin's transfer. For this purpose, we performed a retrospective follow-up study...
October 31, 2016: Annals of Plastic Surgery
https://www.readbyqxmd.com/read/27772903/intestinal-ganglioneuromatosis-with-peri-intestinal-neurofibroma-limited-to-the-gastrointestinal-tract-mimicking-crohn-s-disease
#17
Sushmitha Malpe Gopal, Anuradha C K Rao, Ranjini Kudva, Rajgopal Shenoy
No abstract text is available yet for this article.
February 2016: Pathology
https://www.readbyqxmd.com/read/27765635/molecular-analysis-of-hybrid-neurofibroma-schwannoma-identifies-common-monosomy-22-and-%C3%AE-t-catenin-ctnna3-as-a-novel-candidate-tumor-suppressor
#18
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
https://www.readbyqxmd.com/read/27761273/unusual-case-of-a-proptosed-eye-isolated-right-maxillary-neurofibroma
#19
Darren Yap, Hannah Fox, Julia Addams-Williams
Neurofibroma is a slow growing benign tumour of the peripheral nerve sheath which is frequently associated with neurofibromatosis type 1 (Prakash et al., 2014). Isolated solitary occurrence of neurofibroma in the maxillary sinus is rare with only 29 reported cases in the literature. We present a rare case of a 70-year-old gentleman who was referred to ENT with a right maxillary sinus neurofibroma with extension into the right inferior orbit. He has significant proptosis, ptosis, and limitation in abduction of the right eye...
2016: Case Reports in Pathology
https://www.readbyqxmd.com/read/27748759/egfr-stat3-signalling-in-nerve-glial-cells-modifies-neurofibroma-initiation
#20
J Wu, W Liu, J P Williams, N Ratner
Neurofibromatosis type 1 (NF1) is an inherited disease in which affected patients are predisposed to develop benign Schwann cell (SC) tumours called neurofibromas. In the mouse, loss of Nf1 in the SC lineage causes neurofibroma formation. The tyrosine kinase receptor EGFR is expressed in Schwann cell precursors (SCP), which have been implicated in plexiform neurofibroma initiation. To test if EGFR activity affects neurofibroma initiation, size, and/or number, we studied mice expressing human EGFR in SCs and SCP in the context of mice that form neurofibromas...
October 17, 2016: Oncogene
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