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Neurofibromatosis

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https://www.readbyqxmd.com/read/29040209/inherited-and-acquired-clinical-phenotypes-associated-with-neuroendocrine-tumors
#1
Rory E Nicholaides, M Teresa de la Morena
PURPOSE OF REVIEW: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states. RECENT FINDINGS: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states...
October 16, 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29036751/-diagnosis-and-management-of-vestibular-schwannomas-an-interdisciplinary-challenge
#2
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas 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...
April 2017: Laryngo- Rhino- Otologie
https://www.readbyqxmd.com/read/29033684/fluorine-18-2-fluoro-2-deoxy-d-glucose-positron-emission-tomography-computed-tomography-masquerading-as-a-case-of-sporadic-malignant-peripheral-nerve-sheath-tumor-of-lower-extremity-presenting-as-massive-lower-limb-edema
#3
Deepa Singh, Rajender Kumar, Ashim Das, Subhash C Varma, Bhagwant R Mittal
Malignant peripheral nerve sheath tumors (MPNSTs) are rare neuroectodermal tumors resulting from the malignant transformation of benign plexiform neurofibromas. The sporadic form of these tumors is rare than familial variants (seen in neurofibromatosis Type 1) and making the diagnosis difficult. We are presenting a case of 40--year-old female with the complaint of progressive swelling of lower limb with initial suspicion of lymphedema and underwent lymphoscintigraphy, magnetic resonance imaging, and finally fluorine-18-2-fluoro-2-deoxy-D-glucose positron emission tomography/computed tomography scans were done to rule out mitotic etiology and extent of the disease...
October 2017: World Journal of Nuclear Medicine
https://www.readbyqxmd.com/read/29032173/the-reduced-osteogenic-potential-of-nf1-deficient-osteoprogenitors-is-egfr-independent
#4
S E Tahaei, G Couasnay, Y Ma, N Paria, J Gu, B F Lemoine, X Wang, J J Rios, F Elefteriou
Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by mutations in the NF1 gene. Recalcitrant bone healing following fracture (i.e. pseudarthrosis) is one of the most problematic skeletal complications associated with NF1. The etiology of this condition is still unclear; thus, pharmacological options for clinical management are limited. Multiple studies have shown the reduced osteogenic potential of Nf1-deficient osteoprogenitors. A recent transcriptome profiling investigation revealed that EREG and EGFR, encoding epiregulin and its receptor Epidermal Growth Factor Receptor 1, respectively, were among the top over-expressed genes in cells of the NF1 pseudarthrosis site...
October 11, 2017: Bone
https://www.readbyqxmd.com/read/29026664/supratentorial-extraparenchymal-schwannoma-mimicking-parasagittal-meningioma-a-rare-case-report
#5
Uday S Raswan, Irfan Bhat, Nuzhat Samoon, Sajad H Arif, Masood Laharwal, Sarbjit S Chhiber, Altaf Umar Ramzan
BACKGROUND: Intracranial schwannomas not related to cranial nerves are very rare. Young age, no known history of neurofibromatosis, and seizure as initial symptom have been reported to be associated with intraparenchymal schwannoma. CASE DESCRIPTION: We report a case of supratentorial parasagittal schwannoma in the right frontal region presenting with seizure episode in a 70-year-old man. Computed tomography and magnetic resonance imaging showed a right frontal solid, enhancing extra-axial lesion based on anterior and middle third junction of superior sagittal sinus...
2017: Surgical Neurology International
https://www.readbyqxmd.com/read/29023243/pediatric-auditory-brainstem-implantation-surgical-electrophysiologic-and-behavioral-outcomes
#6
Holly F B Teagle, Lillian Henderson, Shuman He, Matthew G Ewend, Craig A Buchman
OBJECTIVES: The objectives of this study were to demonstrate the safety of auditory brainstem implant (ABI) surgery and document the subsequent development of auditory and spoken language skills in children without neurofibromatosis type II (NFII). DESIGN: A prospective, single-subject observational study of ABI in children without NFII was undertaken at the University of North Carolina at Chapel Hill. Five children were enrolled under an investigational device exemption sponsored by the investigators...
October 11, 2017: Ear and Hearing
https://www.readbyqxmd.com/read/29021449/diffuse-intestinal-ganglioneuromatosis-showing-multiple-large-bowel-ulcers-in-a-patient-with-neurofibromatosis-type-1
#7
Masaya Iwamuro, Rika Omote, Takehiro Tanaka, Naruhiko Sunada, Takahiro Nada, Yoshitaka Kondo, Soichiro Nose, Mitsuhiko Kawaguchi, Fumio Otsuka, Hiroyuki Okada
A 67-year-old Japanese man with neurofibromatosis type 1 underwent right hemicolectomy owing to abscess formation around the cecum. A pathological analysis revealed diffuse intestinal ganglioneuromatosis in the cecum and colon. Colonoscopy performed eight months after hemicolectomy revealed multiple ulcers throughout the colon and rectum. The colorectal ulcers failed to respond to conservative treatment and ultimately required surgical resection. Diffuse ganglioneuromatosis was observed again in the resected specimen...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29020982/the-prognostic-value-of-c-x-c-motif-chemokine-receptor-4-in-patients-with-sporadic-malignant-peripheral-nerve-sheath-tumors
#8
Chao Zhang, Fang-Yuan Chang, Wen-Ya Zhou, Ji-Long Yang
BACKGROUND: Recent studies indicate that C-X-C motif chemokine receptor 4 (CXCR4) and its ligand, C-X-C motif chemokine ligand 12 (CXCL12), stimulate expression of the cell cycle regulatory protein Cyclin D1 in neurofibromatosis 1-associated malignant peripheral nerve sheath tumor (MPNST) cells and promote their proliferation. In this study, we measured the expression of CXCR4, CXCL12, and Cyclin D1 proteins in sporadic MPNST tissues from Chinese patients and investigated their prognostic values...
October 11, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28993414/a-collaborative-model-for-accelerating-the-discovery-and-translation-of-cancer-therapies
#9
REVIEW
Ophélia Maertens, Mila E McCurrach, Benjamin S Braun, Thomas De Raedt, Inbal Epstein, Tannie Q Huang, Jennifer O Lauchle, Hyerim Lee, Jianqiang Wu, Timothy P Cripe, D Wade Clapp, Nancy Ratner, Kevin Shannon, Karen Cichowski
Preclinical studies using genetically engineered mouse models (GEMM) have the potential to expedite the development of effective new therapies; however, they are not routinely integrated into drug development pipelines. GEMMs may be particularly valuable for investigating treatments for less common cancers, which frequently lack alternative faithful models. Here, we describe a multicenter cooperative group that has successfully leveraged the expertise and resources from philanthropic foundations, academia, and industry to advance therapeutic discovery and translation using GEMMs as a preclinical platform...
October 9, 2017: Cancer Research
https://www.readbyqxmd.com/read/28991555/a-63-year-old-woman-with-neurofibromatosis-type-1-and-pulmonary-hypertension-with-worsening-hypoxemia
#10
Udit Chaddha, Ioan Puscas, Ashley Prosper, Sivagini Ganesh, Bassam Yaghmour
A 63-year-old woman with a history of neurofibromatosis type-1 (NF-1) and pulmonary arterial hypertension (PAH) thought to be secondary to the NF-1 presented with a few weeks of worsening dyspnea on exertion. She took no medications other than sildenafil for her pulmonary hypertension (PH). She denied tobacco, alcohol, and illicit or anorectic drug use. She had previously worked as a waitress. Her mother and her brother had NF-1 but no PH or lung disease.
October 2017: Chest
https://www.readbyqxmd.com/read/28988361/correction-to-sphenoid-dysplasia-in-neurofibromatosis-type-1-a-new-technique-for-repair
#11
Concezio Di Rocco, Amir Samii, Gianpiero Tamburrini, Luca Massimi, Mario Giordano
The published version of this article unfortunately contained an error. All names of the authors have been published incorrectly. Given in this article are the corrected author names.
October 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28984541/isolated-optic-nerve-gliomas-a-multicenter-historical-cohort-study
#12
Ben Shofty, Liat Ben-Sira, Anat Kesler, George Jallo, Mari L Groves, Rajiv R Iyer, Alvaro Lassaletta, Uri Tabori, Eric Bouffet, Ulrich-Wilhelm Thomale, Pablo Hernáiz Driever, Shlomi Constantini
OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. METHODS The authors conducted a multicenter retrospective cohort study aimed at determining the natural history of IONGs. Included were patients with clear-cut glioma of the optic nerve without posterior (chiasmatic/hypothalamic) involvement...
October 6, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28981936/-phenotypic-and-genetic-analysis-of-a-child-carrying-a-17q11-2-microdeletion
#13
Hongdan Wang, Zhanqi Feng, Ke Yang, Yue Gao, Xiaodong Huo, Litao Qin, Guiyu Lou
OBJECTIVE: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype. METHODS: Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980149/hemorrhagic-presentation-of-intracranial-pilocytic-astrocytomas-literature-review
#14
REVIEW
G Lakshmi Prasad, B N Nandeesh, Girish R Menon
Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. In addition, salient differences between adult and pediatric hemorrhagic PA have been briefed. Hospital records were retrieved for our case. Literature review was conducted by searching online databases for the following keywords-pilocytic astrocytoma, hemorrhage, cranial, pediatric, and adults...
October 4, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#15
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#16
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28973692/malignant-peripheral-nerve-sheath-tumors-are-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#17
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Mark Kellett, Rupert Obholzer, Shazia Afridi, Patrick Axon, Dorothy Halliday, Allyson Parry, Owen M Thomas, Roger D Laitt, Martin G McCabe, Stavros Stivaros, Sara Erridge, D Gareth Evans
BACKGROUND: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS: The prospective database consists of 1253 patients with NF2...
July 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28973691/high-grade-glioma-is-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#18
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon M Freeman, Omar N Pathmanaban, Monica Rodriguez-Valero, Owen M Thomas, Roger D Laitt, Stavros Stivaros, Mark Kellett, D Gareth Evans
BACKGROUND: The Manchester criteria for neurofibromatosis type 2 (NF2) include a range of tumors, and gliomas were incorporated in the original description. The gliomas are now widely accepted to be predominantly spinal cord ependymomas. OBJECTIVE: To determine whether these gliomas include any cases of malignant glioma (WHO grade III and IV) through a database review. METHODS: The prospective database consists of 1253 patients with NF2. 1009 are known to be alive at last follow-up...
July 21, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28971455/neurofibromatosis-noonan-syndrome-a-possible-paradigm-of-the-combination-of-genetic-and-epigenetic-factors
#19
Christos Yapijakis, Nikos Pachis, Costas Voumvourakis
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28964288/the-value-of-intraoperative-eabrs-in-auditory-brainstem-implantation
#20
Abbas Anwar, Alison Singleton, Yixin Fang, Binhuan Wang, William Shapiro, J Thomas Roland, Susan B Waltzman
OBJECTIVE: To compare the intraoperative electrically evoked auditory brainstem response (EABR) morphologies between neurofibromatosis II (NF2) adult auditory brainstem implant (ABI) recipients who had auditory percepts post-operatively and those who did not and between NF2 adult ABI recipients and non-NF2 pediatric ABI recipients. METHODS: This was a retrospective case series at a single tertiary academic referral center examining all ABI recipients from 1994 to 2016, which included 34 NF2 adults and 11 non-NF2 children...
October 2017: International Journal of Pediatric Otorhinolaryngology
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