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Neurofibromatosis

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https://www.readbyqxmd.com/read/28332154/altered-cerebrospinal-fluid-dynamics-in-neurofibromatosis-type-l-severe-arachnoid-thickening-in-patients-with-neurofibromatosis-type-1-may-cause-abnormal-csf-dynamic
#1
Young Sill Kang, Eun-Kyung Park, Yong-Oock Kim, Ju-Seong Kim, Dong-Seok Kim, U W Thomale, Kyu-Won Shim
INTRODUCTION: The object of this study is to understand abnormal dynamic of cerebrospinal fluid (CSF) in patients with neurofibromatosis type 1 (NF1), which may cause temporal lobe herniation and bulging of temporal fossa. METHODS: Four patients, three females and one male, with NF1 were studied retrospectively. They presented with a similar craniofacial deformity, which consisted of pulsatile exophthalmos, an enlarged bony orbit, dysplasia of the sphenoid wing with the presence of a herniation of the temporal lobe into the orbit, and a bulging temporal fossa...
March 22, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28330960/a-multi-institutional-study-of-brainstem-gliomas-in-children-with-neurofibromatosis-type-1
#2
Jasia Mahdi, Amish C Shah, Aimee Sato, Stephanie M Morris, Robert C McKinstry, Robert Listernick, Roger J Packer, Michael J Fisher, David H Gutmann
OBJECTIVE: To define the clinical and radiologic features of brainstem gliomas (BSGs) in children with neurofibromatosis type 1 (NF1). METHODS: We performed a retrospective cross-sectional study of 133 children with NF1 and concurrent BSGs cared for at 4 NF1 referral centers. BSG was determined using radiographic criteria. Age at diagnosis, tumor location and appearance, clinical symptoms, treatment, and presence of a concurrent optic pathway glioma were assessed...
March 22, 2017: Neurology
https://www.readbyqxmd.com/read/28329564/polydactyly-in-neurofibromatosis-type-i-a-potential-clue-to-diagnosis
#3
Kate L Kimes, Marie J Han, Patrick J Brown
Neurofibromatosis type 1 is a genetic disorder characterized by variable phenotypic manifestations. The diagnostic criteria, 25 established in 1987, are broad to encompass these pleiotropic findings. Included are the specific osseous manifestations of 26 sphenoid dysplasia and dysplasia or thinning of the cortex of long bones. This review highlights recent evidence on the role of 27 neurofibromin in bone development and suggests consideration for additional diagnostic criteria.
November 15, 2016: Dermatology Online Journal
https://www.readbyqxmd.com/read/28325651/genitourinary-paraganglioma-demographic-pathologic-and-clinical-characteristics-in-the-surveillance-epidemiology-and-end-results-database-2000-2012
#4
Stephanie Purnell, Abhinav Sidana, Mahir Maruf, Campbell Grant, Piyush K Agarwal
BACKGROUND: Extra-adrenal paragangliomas (PGLs) are infrequent, benign, and neuroendocrine tumors arising from chromaffin cells of the autonomic nervous system. Most PGLs are sporadic, but up to 32% are associated with inherited syndromes such as neurofibromatosis type 1, von Hippel-Lindau disease, and familial PGL. Although most PGLs develop above the umbilicus, they have been reported in the genitourinary (GU) tract. Owing to the paucity of literature on the rates of GU PGL, the objective of our study is to describe the demographic, pathologic, and clinical characteristics of GU PGL, and compare them to non-GU sites of PGL using the surveillance, epidemiology, and end results (SEER) database...
March 18, 2017: Urologic Oncology
https://www.readbyqxmd.com/read/28323186/micro-multileaf-collimator-linac-radiosurgery-for-vestibular-schwannomas
#5
Essam M Rezk, Faycal El Majdoub, Martin Kocher, Harald Treuer, Volker Sturm, Mohammad Maarouf
OBJECTIVE: This study evaluates the efficacy of linear accelerator (LINAC) radiosurgery using micro multi-leaf collimator technique (μMLC) in the treatment of a consecutive series of patients with vestibular schwannomas. PATIENTS AND METHODS: In this retrospective study, we enrolled 50 patients with non-neurofibromatosis type 2 vestibular schwannoma who were treated with μMLC LINAC-based SRS at University Hospital of Cologne, Germany. A minimum clinical follow-up of 24 months was conducted...
March 16, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28319630/phacomatosis-cesioflammea-in-association-with-von-recklinghausen-disease-neurofibromatosis-type-i
#6
Bhushan Madke, Sumit Kar, Nitin Gangane, Neha Singh
No abstract text is available yet for this article.
February 2017: Cutis; Cutaneous Medicine for the Practitioner
https://www.readbyqxmd.com/read/28318682/predicting-neurofibromatosis-type-1-risk%C3%A2-among-children-with-isolated-caf%C3%A3-au-lait%C3%A2-macules
#7
Shay Ben-Shachar, Tom Dubov, Hagit Toledano-Alhadef, Jacob Mashiah, Eli Sprecher, Shlomi Constantini, Moshe Leshno, Ludwine M Messiaen
BACKGROUND: Although isolated cafe-au-lait macules (CALMs) are a common skin finding, they are an early feature of neurofibromatosis type 1 (NF1). OBJECTIVE: We sought to develop an algorithm determining the risk of children with CALMs to have constitutional NF1. METHODS: We conducted a retrospective study of patients with isolated CALMs. Diagnosis of NF1 was based on detecting NF1 mutation in blood or fulfilling clinical criteria. RESULTS: In all, 170 of 419 (41%) and 21 of 86 (24%) children with isolated CALMs who underwent molecular testing and clinical follow-up, respectively, were given a diagnosis of NF1...
March 15, 2017: Journal of the American Academy of Dermatology
https://www.readbyqxmd.com/read/28318281/facial-emotion-recognition-face-scan-paths-and-face-perception-in-children-with-neurofibromatosis-type-1
#8
Amelia K Lewis, Melanie A Porter, Tracey A Williams, Samantha Bzishvili, Kathryn N North, Jonathan M Payne
OBJECTIVE: This study aimed to investigate face scan paths and face perception abilities in children with Neurofibromatosis Type 1 (NF1) and how these might relate to emotion recognition abilities in this population. METHOD: The authors investigated facial emotion recognition, face scan paths, and face perception in 29 children with NF1 compared to 29 chronological age-matched typically developing controls. Correlations between facial emotion recognition, face scan paths, and face perception in children with NF1 were examined...
March 20, 2017: Neuropsychology
https://www.readbyqxmd.com/read/28318056/cutaneous-and-systemic-findings-in-mosaic-neurofibromatosis-type-1
#9
Igor Vázquez-Osorio, Anna Duat-Rodríguez, Francisco Javier García-Martínez, Antonio Torrelo, Lucero Noguera-Morel, Angela Hernández-Martín
BACKGROUND/OBJECTIVES: Mosaic neurofibromatosis type 1 (MNF1) is a variant of neurofibromatosis type 1 (NF1) in which clinical manifestations are limited to one or several body segments. The objective was to characterize the cutaneous features and associated systemic findings in a cohort of children with MNF1. METHODS: We performed a retrospective study of 40 children diagnosed with MNF1 at the Department of Dermatology, Hospital Infantil Niño Jesús, Madrid, Spain, from January 1, 1986, to October 31, 2015...
March 20, 2017: Pediatric Dermatology
https://www.readbyqxmd.com/read/28315612/ultrasound-assessment-of-peripheral-nerve-pathology-in-neurofibromatosis-type-1-and-2
#10
Natalie Winter, Tim W Rattay, Hubertus Axer, Eva Schäffer, Bernhard F Décard, Isabel Gugel, Martin Schuhmann, Alexander Grimm
OBJECTIVE: The neurofibromatoses (NF) type 1 and 2 are hereditary tumor predisposition syndromes caused by germline mutations in the NF1 and NF2 tumor suppressor genes. In NF1 and 2, peripheral nerve tumors occur regularly. For further characterizing nerve ultrasound was performed in patients with NF1 and 2. METHODS: Patients with established diagnosis of NF1 (n=27) and NF2 (n=10) were included. Ultrasound of peripheral nerves and cervical roots was performed during routine follow-up visits...
February 20, 2017: Clinical Neurophysiology: Official Journal of the International Federation of Clinical Neurophysiology
https://www.readbyqxmd.com/read/28296469/praxis-skills-and-executive-function-in-children-with-neurofibromatosis-type-1
#11
Chrystelle Remigereau, Arnaud Roy, Orianne Costini, Sébastien Barbarot, Marie Bru, Didier Le Gall
This study aimed at examining motor and ideomotor praxis skills in children with neurofibromatosis type 1 (NF1). The impact of executive dysfunction, frequently described in children with NF1, on the expression of praxis impairments was also studied. Eighteen children with NF1 were included and matched with 20 control children for age (7-14 years), sex, laterality, and parental education level. Both groups of children underwent an assessment based on cognitive models of apraxia including visuomotor tasks, executive tests, and everyday life questionnaires...
March 15, 2017: Applied Neuropsychology. Child
https://www.readbyqxmd.com/read/28295212/constitutional-lztr1-mutation-presenting-with-a-unilateral-vestibular-schwannoma-in-a-teenager
#12
Karen W Gripp, Laura Baker, Vinay Kandula, Joseph Piatt, Andrew Walter, Zhenbin Chen, Ludwine Messiaen
Schwannomatosis is a rare neurofibromatosis clinically diagnosed by age-dependent criteria, with bilateral vestibular schwannoma and/or a constitutional NF2 mutation representing exclusion criteria. Following SMARCB1 germline mutations, constitutional mutations in LZTR1 were discovered. We report on the molecular investigation in a patient presenting at 14 years with a unilateral vestibular schwannoma, ultimately causing blindness and unilateral hearing loss, in the absence of other schwannomas or a positive family history...
March 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28294345/long-term-mri-surveillance-after-microsurgery-for-vestibular-schwannoma
#13
Mia E Miller, Harrison Lin, Bill Mastrodimos, Roberto A Cueva
OBJECTIVES: To determine the optimal postoperative magnetic resonance imaging (MRI) schedule and length of follow-up for patients undergoing microsurgical excision of vestibular schwannoma (VS). STUDY DESIGN: A retrospective review of patients who underwent microsurgical excision of VS at a single tertiary care center between January 1993 and March 2004. METHODS: Two hundred and twenty subjects were analyzed and characteristics gathered, including tumor size, surgical approach, completeness of resection, and length of follow-up to last MRI...
March 14, 2017: Laryngoscope
https://www.readbyqxmd.com/read/28291216/-intramedullary-spinal-cord-tumors-and-neurofibromatosis
#14
Yu V Kushel', Yu D Belova, A R Tekoev
The article addresses the issue of a combination and relationship between intramedullary spinal cord tumors (IMSCTs) and neurofibromatosis (NF). AIM: To study, based on large clinical material, features of the prevalence and biological nature of intramedullary spinal cord tumors in neurofibromatosis patients in different age groups. MATERIAL AND METHODS: We analyzed the data of the largest series of patients from all age groups who underwent surgery for spinal cord intramedullary tumors (541 patients; 586 surgeries; age, 2 months to 72 years)...
2017: Zhurnal Voprosy Neĭrokhirurgii Imeni N. N. Burdenko
https://www.readbyqxmd.com/read/28290428/multiple-mirror-image-cervical-neurofibromas-in-neurofibromatosis-type-1
#15
Saraj K Singh, Dipankar S Mankotia, Sachin A Borkar, Uditi D Gupta
No abstract text is available yet for this article.
March 2017: Neurology India
https://www.readbyqxmd.com/read/28289600/conflict-processing-in-juvenile-patients-with-neurofibromatosis-type-1-nf1-and-healthy-controls-two-pathways-to-success
#16
Annet Bluschke, Maja von der Hagen, Katharina Papenhagen, Veit Roessner, Christian Beste
Neurofibromatosis Type 1 (NF1) is a monogenetic autosomal-dominant disorder with a broad spectrum of clinical symptoms and is commonly associated with cognitive deficits. Patients with NF1 frequently exhibit cognitive impairments like attention problems, working memory deficits and dysfunctional inhibitory control. The latter is also relevant for the resolution of cognitive conflicts. However, it is unclear how conflict monitoring processes are modulated in NF1. To examine this question in more detail, we used a system neurophysiological approach combining high-density ERP recordings with source localisation analyses in juvenile patients with NF1 and controls during a flanker task...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28285878/stem-cell-factors-based-identification-and-functional-properties-of-in%C3%A2-vitro-selected-subpopulations-of-malignant-mesothelioma-cells
#17
Walter Blum, László Pecze, Emanuela Felley-Bosco, Licun Wu, Marc de Perrot, Beat Schwaller
Malignant mesothelioma (MM) is an aggressive neoplasm characterized by a poor patient survival rate, because of rapid tumor recurrence following first-line therapy. Cancer stem cells (CSCs) are assumed to be responsible for initiating tumorigenesis and driving relapse after therapeutic interventions. CSC-enriched MM cell subpopulations were identified by an OCT4/SOX2 reporter approach and were characterized by (1) increased resistance to cisplatin, (2) increased sensitivity toward the FAK inhibitor VS-6063 in vitro, and (3) a higher tumor-initiating capacity in vivo in orthotopic xenograft and allograft mouse models...
March 9, 2017: Stem Cell Reports
https://www.readbyqxmd.com/read/28285811/-composite-pheochromocytoma-a-rare-adrenal-tumor
#18
Gwladys Robinet, Nathalie Rioux-Leclercq, Andréa Manunta, Romain Mathieu, Frédérique Tissier, Benoit Peyronnet, Solène-Florence Kammerer-Jacquet
INTRODUCTION: Composite pheochromocytoma is a rare tumor of the adrenal medulla composed of pheochromocytoma and neuroblastic tumor. We report the case of a composite pheochromocytoma detected in a patient with neurofibromatosis type 1. CASE REPORT: A 61-year-old male patient presented occasional sweats with palpitation and moderate high blood pressure. Urinary catecholamine level was increased. CT scan showed a heterogeneous tumor limited to the adrenal gland. Histologically, the tumor showed two components: pheochromocytoma and ganglioneuroma and was diagnosed as a composite pheochromocytoma...
March 9, 2017: Annales de Pathologie
https://www.readbyqxmd.com/read/28283837/vascular-hyperpermeability-as-a-hallmark-of-phacomatoses-is-the-etiology-angiogenesis-related-to-or-comparable-with-mechanisms-seen-in-inflammatory-pathways-part-ii-angiogenesis-and-inflammation-related-molecular-pathways-tumor-associated-macrophages-and-possible
#19
REVIEW
Yosef Laviv, Burkhard Kasper, Ekkehard M Kasper
Phacomatoses are a special group of familial hamartomatous syndromes with unique neurocutaneous manifestations as well as characteristic tumors. Neurofibromatosis type 2 (NF2) and tuberous sclerosis complex (TSC) are representatives of this family. A vestibular schwannoma (VS) and subependymal giant cell tumor (SGCT) are two of the most common intracranial tumors associated with these syndromes, related to NF2 and TSC, respectively. These tumors can present with an obstructive hydrocephalus due to their location adjacent to or in the ventricles...
March 11, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28279525/-ivy-sign-and-moyamoya-disease-in-a-child-with-neurofibromatosis-type-1
#20
Sarah Novara, Sumit Singh, Salman Rashid
No abstract text is available yet for this article.
February 16, 2017: Pediatric Neurology
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