16,766 results match your criteria Neurofibromatosis


Efficacy and safety of Gamma knife radiosurgery for meningiomas in patients with neurofibromatosis Type 2: A long-term follow-up single center study.

World Neurosurg 2019 Feb 11. Epub 2019 Feb 11.

Department of Neurosurgery & Gamma Knife Center, Zhejiang Provincial People's Hospital & People's Hospital of Hangzhou Medical College, Hangzhou, Zhejiang, China. Electronic address:

Objective: To explore the efficacy and safety of Gamma Knife Radiosurgery (GKRS) for meningiomas in neurofibromatosis Type 2 (NF2) patients .

Methods: A series of 35 consecutive patients with 99 meningiomas in our department were retrospectively included from Jan 2000 to Dec 2015. Clinical records, MR image and follow-up data were reviewed. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.01.211DOI Listing
February 2019

Auditory Brainstem Implants: Recent Progress and Future Perspectives.

Front Neurosci 2019 29;13:10. Epub 2019 Jan 29.

Department of Otolaryngology, Massachusetts Eye and Ear, Boston, MA, United States.

The auditory brainstem implant (ABI) was first developed nearly 40 years ago and provides auditory rehabilitation to patients who are deaf and ineligible for cochlear implant surgery due to abnormalities of the cochlea and cochlear nerve. The aims of the following review are to describe the history of the ABI and innovations leading up to the modern ABI system, as well as highlight areas of future development in implant design. Read More

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http://dx.doi.org/10.3389/fnins.2019.00010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361749PMC
January 2019

Reversible eruption of neurofibromatosis associated with tofacitinib therapy for rheumatoid arthritis.

Rheumatology (Oxford) 2019 Feb 7. Epub 2019 Feb 7.

Department of Rheumatology, Western Health, University of Melbourne, Melbourne, Victoria, Australia.

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http://dx.doi.org/10.1093/rheumatology/kez012DOI Listing
February 2019

Neurofibromatosis Type 1: Description of a Novel Diagnostic Scoring System in Pediatric Optic Nerve Glioma.

AJR Am J Roentgenol 2019 Feb 11:1-7. Epub 2019 Feb 11.

1 Department of Medical Imaging, Montreal Children's Hospital, McGill University, 1001 Decarie Blvd, Rm B02.7005, Montreal, QC H4A 3J1, Canada.

Objective: Neurofibromatosis type 1 (NF1) is a multisystemic genetic disease in which patients develop benign tumors including optic nerve gliomas (ONG). Optic nerve thickening and tortuosity are radiologic markers of tumors but can also be present in children with NF1 who do not have gliomas, thus complicating screening and diagnosis. We undertook this study to retrospectively determine quantitative and qualitative diagnostic criteria using MRI of the orbits for ONG in children with NF1. Read More

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http://dx.doi.org/10.2214/AJR.18.20044DOI Listing
February 2019

Two cases of debulking surgery for lower limb diffuse plexiform neurofibroma with transcatheter arterial embolisation.

Int J Surg Case Rep 2019 Jan 29;55:132-135. Epub 2019 Jan 29.

Department of Plastic Surgery, Kobe University Graduate School of Medicine, Kobe, Hyogo, Japan.

Introduction: Diffuse plexiform neurofibroma (DPN) in patients with neurofibromatosis type 1 (NF1) causes motility dysfunction in severe cases. Transcatheter arterial embolisation (TAE) is an effective haemorrhage control method in vascular tumour surgery.

Presentation Of Case: We performed debulking surgery for DPN in the buttock and posterior thigh of two NF1 patients. Read More

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http://dx.doi.org/10.1016/j.ijscr.2019.01.018DOI Listing
January 2019

Substantial pain burden in frequency, intensity, interference and chronicity among children and adults with neurofibromatosis Type 1.

Am J Med Genet A 2019 Feb 8. Epub 2019 Feb 8.

Division of Human Genetics, Cincinnati Children's Hospital Medical Center, Cincinnati, Ohio.

Tumor growths, migraine headaches, and other health-related complications reported in patients with neurofibromatosis type 1 (NF1) are often associated with pain. Thus, this study sought to describe and quantify the pain experience in children and young adults with NF1. Surveys were administered to 49 participants (28 children and 21 adults), ages 8 through 40 years. Read More

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http://dx.doi.org/10.1002/ajmg.a.61069DOI Listing
February 2019
1 Read

Prognostic significance of mast cell and microvascular densities in malignant peripheral nerve sheath tumor with and without neurofibromatosis type 1.

Cancer Med 2019 Feb 8. Epub 2019 Feb 8.

Postgraduation Program in Neurology, Federal University of the State of Rio de Janeiro, Rio de Janeiro, Brazil.

Malignant peripheral nerve sheath tumors (MPNSTs) are rare and aggressive soft tissue sarcomas with a significant susceptibility to metastasize early in their course. Pathogenesis is yet to be fully elucidated. Recently, the essential role of mast cells in the tumor onset of neurofibromatosis type 1 (NF1)-associated neurofibromas and MPNSTs was confirmed in both experimental and human studies. Read More

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http://dx.doi.org/10.1002/cam4.1977DOI Listing
February 2019

Visuoperceptual Impairment in Children with NF1: From Early Visual Processing to Procedural Strategies.

Behav Neurol 2019 13;2019:7146168. Epub 2019 Jan 13.

Developmental Neurology Division, Fondazione IRCCS Istituto Neurologico Carlo Besta, Via Celoria 11, 20133 Milan, Italy.

Visual-spatial impairment has long been considered a hallmark feature of neurofibromatosis type 1 (NF1). No study investigating the cognitive and neuropsychological profile of NF1 used the Rey Complex Figure Test (RCFT) task as the primary measure of visual-perceptual abilities taking into consideration all functions involved including the strategic processing style. We compared 18 children with NF1, 17 siblings (S), and 18 typically developing children (TD) at intelligence scale and RCFT copy, recall, and recognition trials; we also evaluated the copy strategy as a measure of a visual-processing style. Read More

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http://dx.doi.org/10.1155/2019/7146168DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6348799PMC
January 2019

Cxcr3-expressing leukocytes are necessary for neurofibroma formation in mice.

JCI Insight 2019 Feb 7;4(3). Epub 2019 Feb 7.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, Ohio, USA.

Plexiform neurofibroma is a major contributor to morbidity in patients with neurofibromatosis type I (NF1). Macrophages and mast cells infiltrate neurofibroma, and data from mouse models implicate these leukocytes in neurofibroma development. Antiinflammatory therapy targeting these cell populations has been suggested as a means to prevent neurofibroma development. Read More

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http://dx.doi.org/10.1172/jci.insight.98601DOI Listing
February 2019

Antiphospholipid syndrome and neurofibromatosis type I: a coincidence or new association?

Arq Bras Oftalmol 2019 Mar-Apr;82(2):155-157

Department of Neuro-radiology, Sheikh Khalifa Hospital, Abu Dhabi, UAE.

Numerous studies have reported on structural vascular anomalies and ischemia associated with neurofibromatosis type 1 that are thought to stem from dysfunction of neurofibromin, the neurofibromatosis type 1 protein. Documented cases of associated antiphospholipid syndrome fulfilling the accepted diagnostic criteria are exceptionally rare, with only three cases reported in the literature. Here, we report on a patient with neurofibromatosis type 1 and a history of spontaneous abortions presenting with sudden vision loss in the right eye and swelling of the optic nerve head. Read More

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http://www.gnresearch.org/doi/10.5935/0004-2749.20190032
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http://dx.doi.org/10.5935/0004-2749.20190032DOI Listing
August 2018
9 Reads

Pediatric malignancies in neurofibromatosis type 1: a population-based cohort study.

Int J Cancer 2019 Feb 6. Epub 2019 Feb 6.

Institute of Biomedicine, University of Turku, Turku, Finland.

Neurofibromatosis type 1 (NF1) is a cancer predisposition syndrome with an incidence of 1:2000. Patients with NF1 have an increased cancer risk and mortality, but there are no population-based cohort studies specifically investigating the risk of childhood malignancies. We used the Finnish NF1 cohort to analyze the incidence, risk and prognosis of malignancies in NF1 patients <20 years of age. Read More

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http://dx.doi.org/10.1002/ijc.32187DOI Listing
February 2019
2 Reads

Intraoperative Monitoring of the Cochlear Nerve during Neurofibromatosis Type-2 Vestibular Schwannoma Surgery and Description of a "Test Intracochlear Electrode".

J Neurol Surg Rep 2019 Jan 4;80(1):e1-e9. Epub 2019 Feb 4.

Cambridge Skull Base Unit, Cambridge University Hospitals NHS Foundation Trust, Cambridge, United Kingdom.

 A decision on whether to insert a cochlear implant can be made in neurofibromatosis 2 (NF2) if there is objective evidence of cochlear nerve (CN) function post vestibular schwannoma (VS) excision. We aimed to develop intraoperative CN monitoring to help in this decision.  We describe the intraoperative monitoring of a patient with NF2 and our stimulating and recording set up. Read More

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http://dx.doi.org/10.1055/s-0038-1673649DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6361632PMC
January 2019

Funny Lumps, Flaming Pheo, and a Broken Heart: A Rare Case of Pheochromocytoma.

Cureus 2018 Nov 28;10(11):e3646. Epub 2018 Nov 28.

Radiology, Florida Hospital-Orlando, Orlando, USA.

Pheochromocytoma is the underlying etiology in 0.1% of hypertensive cases. However, it may be present in up to 5. Read More

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http://dx.doi.org/10.7759/cureus.3646DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6351109PMC
November 2018
2 Reads

Low mutation burden and frequent loss of CDKN2A/B and SMARCA2, but not PRC2, define pre-malignant neurofibromatosis type 1-associated atypical neurofibromas.

Neuro Oncol 2019 Feb 5. Epub 2019 Feb 5.

Clinical Genetics Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, NIH, Rockville, MD, USA.

Background: Neurofibromatosis type 1 (NF1) is a tumor-predisposition disorder caused by germline mutations in NF1. NF1 patients have an 8-16% lifetime risk of developing a malignant peripheral nerve sheath tumor (MPNST), a highly-aggressive soft-tissue sarcoma, often arising from pre-existing benign plexiform neurofibromas (PN) and atypical neurofibromas (ANF). ANF are distinct from both PN and MPNST, representing an intermediate step in malignant transformation. Read More

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http://dx.doi.org/10.1093/neuonc/noz028DOI Listing
February 2019
1 Read

Intracranial arterial dolichoectasia and skull damage in a girl with Jaffe-Campanacci syndrome: a case report.

Childs Nerv Syst 2019 Feb 5. Epub 2019 Feb 5.

Department of Neurosurgery, Children's Hospital of Soochow University, 92 Zhongnan Street, Suzhou, Jiangsu, 215006, People's Republic of China.

ᅟJaffe-Campanacci is a rare syndrome characterised by axillary freckles, multiple non-ossifying fibromas of the long bones and jaw, and café-au-lait spots, associated with some features of neurofibromatosis type 1 (NF1). Cherix et al. and Colby and Saul suggested that Jaffe-Campanacci syndrome (JCS) might be a distinct form of NF1. Read More

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http://dx.doi.org/10.1007/s00381-019-04064-9DOI Listing
February 2019

Was the internal thoracic arterial graft selection for coronary artery bypass grafting appropriate in a patient with neurofibromatosis-1?

SAGE Open Med Case Rep 2019 22;7:2050313X18818724. Epub 2019 Jan 22.

Department of Cardiovascular Surgery, Ehime Prefectural Central Hospital, Matsuyama, Japan.

Neurofibromatosis type 1, also called von Recklinghausen's disease, is a hereditary congenital disorder that affects tissues of neuroectodermal or mesodermal origin. This disease has various manifestations, including pigmented skin lesions, cutaneous neurofibromas, skeletal abnormalities, and tumors of the central/peripheral nervous and gastrointestinal systems, and vascular abnormalities. Because of vasculopathy, part of the vessel wall may be replaced by neurofibromatosis tissue. Read More

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http://dx.doi.org/10.1177/2050313X18818724DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6349987PMC
January 2019
2 Reads

Phase 0 trial investigating the intratumoural concentration and activity of sorafenib in neurofibromatosis type 2.

J Neurol Neurosurg Psychiatry 2019 Feb 4. Epub 2019 Feb 4.

Institute of Translational and Stratified Medicine, Plymouth University Peninsula Schools of Medicine and Dentistry, Plymouth, UK

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http://dx.doi.org/10.1136/jnnp-2018-319713DOI Listing
February 2019

Reprogramming Captures the Genetic and Tumorigenic Properties of Neurofibromatosis Type 1 Plexiform Neurofibromas.

Stem Cell Reports 2019 Feb 31;12(2):411-426. Epub 2019 Jan 31.

Hereditary Cancer Group, Germans Trias i Pujol Research Institute (IGTP)-PMPPC-CIBERONC, Can Ruti Campus, Badalona, Barcelona 08916, Spain. Electronic address:

Neurofibromatosis type 1 (NF1) is a tumor predisposition genetic disease caused by mutations in the NF1 tumor suppressor gene. Plexiform neurofibromas (PNFs) are benign Schwann cell (SC) tumors of the peripheral nerve sheath that develop through NF1 inactivation and can progress toward a malignant soft tissue sarcoma. There is a lack of non-perishable model systems to investigate PNF development. Read More

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http://dx.doi.org/10.1016/j.stemcr.2019.01.001DOI Listing
February 2019

Manifestations and Treatment of Adult-onset Symptomatic Optic Pathway Glioma in Neurofibromatosis Type 1.

Anticancer Res 2019 Feb;39(2):827-831

Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.

This report describes the diagnosis and treatment of a 27-year-old patient with neurofibromatosis 1 (NF1) and late progression of a pre-existing optic pathway glioma (OPG) that caused significant reduction in vision. OPG is one of the diagnostic criteria for establishing the diagnosis of NF1. Most common findings of NF1 are café-au-lait spots, axillary and inguinal freckling of the skin, iris hamartoma (Lisch nodules), and tumors of the central nervous system and peripheral nerves. Read More

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http://dx.doi.org/10.21873/anticanres.13181DOI Listing
February 2019
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Reduced higher dimensional temporal dynamism in neurofibromatosis type 1.

Neuroimage Clin 2019 Jan 29;22:101692. Epub 2019 Jan 29.

Department of Psychiatry and Biobehavioral Sciences, University of California, Los Angeles, CA, USA; Department of Psychology, University of California, Los Angeles, CA, USA. Electronic address:

Neurofibromatosis type 1 (NF1) is a common single gene disorder resulting in multi-organ involvement. In addition to physical manifestations such as characteristic pigmentary changes, nerve sheath tumors, and skeletal abnormalities, NF1 is also associated with increased rates of learning disabilities, attention deficit hyperactivity disorder, and autism spectrum disorder. While there are established NF1-related structural brain anomalies, including brain overgrowth and white matter disruptions, little is known regarding patterns of functional connectivity in NF1. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22131582193004
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http://dx.doi.org/10.1016/j.nicl.2019.101692DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6354288PMC
January 2019
3 Reads

Update on Peripheral Nerve Sheath Tumors.

Surg Pathol Clin 2019 Mar 17;12(1):1-19. Epub 2018 Dec 17.

Department of Laboratory Medicine and Pathology, Mayo Clinic, 200 First Street Southwest, Rochester, MN 55905, USA. Electronic address:

Recent work has revealed SMARCB1/INI1 loss by immunohistochemistry in a subset of epithelioid schwannomas and explored the significance of cytologic atypia and increased mitotic activity in these tumors. Additional studies have evaluated the utility and limitations of histone H3K27 trimethylation in diagnosis of high-grade and low-grade malignant peripheral nerve sheath tumors. New terminology regarding nerve sheath tumors in neurofibromatosis type 1 patients was proposed during a 2016 conference to better define guidelines for classification of this group of tumors. Read More

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http://dx.doi.org/10.1016/j.path.2018.10.001DOI Listing

Retinal microvascular abnormalities in neurofibromatosis type 1.

Br J Ophthalmol 2019 Jan 31. Epub 2019 Jan 31.

Department of Dermatology, Sapienza University of Rome, Rome, Italy.

Purpose: The aim of this study was to provide a classification of the different retinal vascular arrangements in neurofibromatosis 1 (NF1), with appropriate qualitative and quantitative information.

Methods: This study was conducted on 334 consecutive patients with NF1 and 106 sex-matched and age-matched healthy control subjects. Each patient underwent a comprehensive ophthalmological examination inclusive of near-infrared reflectance retinography by using the spectral domain Optical coherence tomography (OCT), a complete dermatological examination and 1. Read More

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http://dx.doi.org/10.1136/bjophthalmol-2018-313002DOI Listing
January 2019

[Efficiency of preoperative Halo-gravity traction in severe kyphoscoliosis secondary to neurofibromatosis type Ⅰ].

Zhonghua Wai Ke Za Zhi 2019 Feb;57(2):119-123

Department of Spinal Surgery, Drum Tower Hospital, Medical School of Nanjing University, Nanjing 210008, China.

To evaluate the efficiency of preoperative Halo-gravity traction (HGT) in the treatment of severe kyphoscoliosis secondary to neurofibromatosis type Ⅰ (NF1). A retrospective review was conducted on patients with severe kyphoscoliosis secondary to NF1 at Department of Spinal Surgery, Drum Tower Hospital, Medical School of Nanjing University between July 2007 and May 2016. A total of 29 patients including 17 males and 12 females were finally enrolled and the age was (13. Read More

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http://dx.doi.org/10.3760/cma.j.issn.0529-5815.2019.02.009DOI Listing
February 2019

[Identification of a novel NF1 mutation in a Chinese family affected with neurofibromatosis type I].

Zhonghua Yi Xue Yi Chuan Xue Za Zhi 2019 Feb;36(2):132-135

Center for Reproduction and Genetics, Suzhou Hospital Affiliated to Nanjing Medical University, Suzhou, Jiangsu 215000, China.

Objective: To explore the molecular basis for a Chinese family affected with neurofibromatosis type I.

Methods: Peripheral blood samples were collected from the proband and his parents. Potential mutations of NF1 gene were screened by PCR and Sanger sequencing. Read More

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http://dx.doi.org/10.3760/cma.j.issn.1003-9406.2019.02.009DOI Listing
February 2019

Atypical teratoid rhabdoid tumor mimicking type II neurofibromatosis: A case report.

Medicine (Baltimore) 2019 Feb;98(5):e14308

Department of Neurological Surgery, Children's Hospital, Zhejiang University School of Medicine, China.

Rationale: Brain magnetic resonance imaging (MRI) images of atypical teratoid rhabdoid tumor (ATRT) often present heterogeneous signals of various cells without remarkable features of the disease. We describe a unique case of atypical brain MRI images presenting as an type II neurofibromatosis and explore some diagnostic hints.

Patient Concerns: A 1-year-and-7-month-old boy admitted to our department with a 7-day history of drowsiness and 2-day history of emesis, and his presenting complaint was repeated vomit. Read More

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http://dx.doi.org/10.1097/MD.0000000000014308DOI Listing
February 2019

Isolated giant ileal neurofibroma sans neurofibromatosis.

Indian J Cancer 2018 Jul-Sep;55(3):301-303

Department of Radiodiagnosis, Government Medical College and Hospital, Chandigarh, India.

Neurofibromas are benign neoplasms that are usually seen in hereditary disorders such as von Recklinghausen's disease [neurofibromatosis type 1 (NF1)]. The occurrence of isolated ileal neurofibroma in patients without the classic manifestations of NF1 or multiple endocrine neoplasia (MEN) syndromes is an extremely rare entity . We report one such case of isolated ileal neurofibroma in a 60 year old woman without any other stigmata of NF. Read More

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http://dx.doi.org/10.4103/ijc.IJC_121_18DOI Listing
January 2019
2 Reads

Prenatal diagnosis for de novo mutations: Experience from a tertiary center over a 10-year period.

Mol Genet Genomic Med 2019 Jan 28:e00573. Epub 2019 Jan 28.

The Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Ramat Gan, Israel.

Background: This study summarizes the results of prenatal diagnosis due to a history of de novo mutation in a previous pregnancy, in a tertiary center in Israel, over a 10-year period.

Methods: We sorted all cases of de novo mutations from a pool of 2,260 pregnancies for which prenatal molecular diagnosis was applied, between the years 2008 and 2017. We identified 122 molecular prenatal diagnosis performed for de novo mutations, in 90 women. Read More

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http://dx.doi.org/10.1002/mgg3.573DOI Listing
January 2019
2 Reads

[Eyelid Surgery in Patients with Orbitotemporal Neurofibromatosis].

Klin Monbl Augenheilkd 2019 01 28;236(1):43-46. Epub 2019 Jan 28.

Okuloplastik und Orbitachirurgie, Augenklinik Tallinn, Estland.

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http://dx.doi.org/10.1055/a-0817-5533DOI Listing
January 2019

Surgical dilemmas in the management of peripheral nerve tumors in neurofibromatosis 1.

Neurol India 2019 Jan-Feb;67(Supplement):S45-S46

Department of Neurosurgery, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India.

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http://dx.doi.org/10.4103/0028-3886.250716DOI Listing
January 2019
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Peripheral nerve tumors in neurofibromatosis 1: An overview on management and indications for surgical treatment in our experience.

Authors:
Debora Garozzo

Neurol India 2019 Jan-Feb;67(Supplement):S38-S44

Brachial Plexus and Peripheral Nerve Surgery Unit, Neuro Spinal Hospital, Dubai, United Arab Emirates.

Neurofibromatosis 1 (NF1) is associated with peripheral nerve tumors (PNTs) in about 30% of cases. In comparison with sporadic forms, NF1 PNTs present some peculiarities: (1) A large prevalence of neurofibromas; (2) the presence of pathognomonic tumoral forms (plexiform neurofibromas); and, (3) a higher incidence (lifetime risk is equal to 8-13%) and an earlier age of onset (2-3 versus 3-6 decades) of malignant peripheral nerve sheath tumors (MPNSTs). For fear of inducing neurological complications, surgical removal of PNTs is generally recommended for symptomatic tumors only. Read More

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http://dx.doi.org/10.4103/0028-3886.250697DOI Listing
January 2019

The largest malignant peripheral nerve sheath arising from the gluteal region: case report.

Br J Neurosurg 2019 Jan 27:1-3. Epub 2019 Jan 27.

b Department of General Surgery, Faculty of Medicine , Jordan University of Science & Technology , Irbid , Jordan.

We report a unique case of a huge malignant peripheral nerve sheath tumor with probable smooth muscle differentiation. Read More

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https://www.tandfonline.com/doi/full/10.1080/02688697.2018.1
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http://dx.doi.org/10.1080/02688697.2018.1562033DOI Listing
January 2019
2 Reads

Relationships Between Neurofibromatosis-2, Progesterone Receptor Expression, the Use of Exogenous Progesterone, and Risk of Orbitocranial Meningioma in Females.

Front Oncol 2018 9;8:651. Epub 2019 Jan 9.

Department of Histology and Cell Biology, Faculty of Medicine Public Health and Nursing, Universitas Gadjah Mada, Yogyakarta, Indonesia.

The pathogenesis of meningioma in females and its association with exogenous progesterone is remained unclear. This study was aimed to examine expression of Progesterone receptor (PR) and Neurofibromatosis-2 () and assess their relationships to history of exogenous progesterone use and risk of meningioma. Our study was a case-control study that involves 115 females, 40 cases who diagnosed with orbito-cranial meningioma and 75 controls of healthy, that has been presented in previous study. Read More

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http://dx.doi.org/10.3389/fonc.2018.00651DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6338020PMC
January 2019
1 Read

Pediatric laryngeal electromyography technique for vocal fold immobility using bipolar double hookwire electrodes.

Int J Pediatr Otorhinolaryngol 2019 Jan 18;119:75-78. Epub 2019 Jan 18.

Department of Otolaryngology-Head and Neck Surgery, Massachusetts Eye & Ear Infirmary, Boston, MA, USA; Department of Otology & Laryngology, Harvard Medical School, Boston, MA, USA. Electronic address:

Vocal fold immobility (VFI) is a common cause of dysphonia and dysphagia in children. Laryngeal electromyography (LEMG) is an important adjunctive test in its diagnosis and treatment. In this study, we present an alternative technique in which bipolar double hookwire electrodes allow simultaneous placement and recordings from the bilateral thyroarytenoid and posterior cricoarytenoid muscles. Read More

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http://dx.doi.org/10.1016/j.ijporl.2019.01.021DOI Listing
January 2019
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Comparison of multi-shot and single shot echo-planar diffusion tensor techniques for the optic pathway in patients with neurofibromatosis type 1.

Neuroradiology 2019 Jan 25. Epub 2019 Jan 25.

Department of Pediatrics, Section of Hematology/Oncology, Indiana University School of Medicine, Indiana, IN, USA.

Purpose: Diffusion tensor imaging (DTI) may be helpful in assessing optic pathway integrity as a marker for treatment in neurofibromatosis type 1 (NF1) patients with optic gliomas (OG). However, susceptibility artifacts are common in typical single-shot echo planar imaging (ssDTI). A readout-segmented multi-shot EPI technique (rsDTI) was utilized to minimize susceptibility distortions of the skull base and improve quantitative metrics. Read More

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http://dx.doi.org/10.1007/s00234-019-02164-6DOI Listing
January 2019

Postpartum shoulder pain and shortness of breath.

Postgrad Med J 2019 Jan 23. Epub 2019 Jan 23.

Department of Medicine, Laniado Hospital, Sanz Medical Centre, Netanya, Israel

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http://dx.doi.org/10.1136/postgradmedj-2018-136224DOI Listing
January 2019
1 Read

Left colic artery aneurysm rupture after stent placement for abdominal aortic aneurysm associated with neurofibromatosis type 1.

Surg Case Rep 2019 Jan 23;5(1):12. Epub 2019 Jan 23.

Division of Digestive and General Surgery, Niigata University Graduate School of Medical and Dental Sciences, 1-757 Asahimachi-dori, Chuo-ku, Niigata City, Niigata, 951-8510, Japan.

Background: Neurofibromatosis type 1 (NF1) is an autosomal dominant disease of the skin and soft tissue. Aneurysms associated with NF1 can occur, but a secondary aneurysm rupture is very rare, with very few cases reported in literature.

Case Presentation: We describe the case of a 67-year-old female with NF1 who underwent endovascular aneurysm repair (EVAR) for an abdominal aortic aneurysm (AAA) rupture. Read More

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http://dx.doi.org/10.1186/s40792-019-0570-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6346692PMC
January 2019
1 Read

Juvenile myelomonocytic leukemia: who's the driver at the wheel?

Blood 2019 Jan 22. Epub 2019 Jan 22.

Division of Pediatric Hematology and Oncology, Department of Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Germany.

Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of early childhood. It is classified as an overlap myeloproliferative/myelodysplastic neoplasm by the World Health Organization (WHO) and shares some features with chronic myelomonocytic leukemia in adults. JMML pathobiology is characterized by constitutive activation of the Ras signal transduction pathway. Read More

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http://dx.doi.org/10.1182/blood-2018-11-844688DOI Listing
January 2019
4 Reads

Home practice and quality of life among patients with neurofibromatosis randomized to a mind-body intervention.

Complement Ther Med 2019 Feb 29;42:114-118. Epub 2018 Oct 29.

Department of Psychiatry, Massachusetts General Hospital, Boston, MA, USA; Harvard Medical School, USA. Electronic address:

Objectives: The purpose of this study was to summarize home practice in patients with neurofibromatosis (NF) randomized to an 8-week group mind-body intervention, the Relaxation Response Resiliency Program for NF (3RP-NF). We further examined the association between home practice and changes in four domains of quality of life (QoL).

Methods: Data are derived from a single-blind RCT of the 3RP-NF (N = 31) delivered via videoconferencing versus an attention placebo control. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S09652299183073
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http://dx.doi.org/10.1016/j.ctim.2018.10.016DOI Listing
February 2019
2 Reads

Report on a child with neurofibromatosis type 2 and unilateral moyamoya: further evidence of cerebral vasculopathy in NF2.

Neurol Sci 2019 Jan 21. Epub 2019 Jan 21.

Referral Centre of Neurofibromatosis, Department of Woman and Child, Specialistic and General Surgery, Università degli Studi della Campania "Luigi Vanvitelli", Via L. De Crecchio 4, 80138, Naples, Italy.

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http://dx.doi.org/10.1007/s10072-019-3728-8DOI Listing
January 2019
1 Read

Recurrent vulvar melanoma in a patient with neurofibromatosis and gastrointestinal stromal tumour.

BMJ Case Rep 2019 Jan 20;12(1). Epub 2019 Jan 20.

Oncology, Mater Misericordiae University Hospital, Dublin, Ireland.

We report a case of a 51-year-old woman with neurofibromatosis who presented in 2012 with postmenopausal bleeding. Excision biopsy of a pigmented lesion of the labia minora was consistent with an ulcerated vulvar BRAF wild type malignant melanoma (MM). Initial excision was followed by radical vulvectomy and adjuvant interferon. Read More

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http://dx.doi.org/10.1136/bcr-2018-224744DOI Listing
January 2019
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Novel Three-Dimensional Morphometry to Reassess Orbit Deformities Associated With Orbital-Periorbital Plexiform Neurofibroma.

J Craniofac Surg 2019 Jan 17. Epub 2019 Jan 17.

Department of Plastic and Reconstructive Surgery.

Background: Orbit deformities are usually found in neurofibromatosis type 1 patients, especially those with orbital-periorbital plexiform neurofibroma (OPPN). Unfortunately, current morphometry is complicated and, in some cases, cannot be performed on the deformed orbit due to the destruction of landmarks. Herein, we present a novel 3-dimensional (3D) morphometry for these orbital measurements. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005079DOI Listing
January 2019
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Corrigendum to Management of Cervical Instability as a Complication of Neurofibromatosis Type 1 in Children: A Historical Perspective With a 40-Year Experience [Spine Deformity 6 (2018) 719-729].

Spine Deform 2019 Mar;7(2):376

Department of Neurological Surgery, University of Cincinnati College of Medicine, 231 Albert Sabin Way, Cincinnati, OH 45267, USA.

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http://dx.doi.org/10.1016/j.jspd.2018.11.003DOI Listing

Adaptive functioning in children with neurofibromatosis type 1: relationship to cognition, behavior, and magnetic resonance imaging.

Dev Med Child Neurol 2019 Jan 18. Epub 2019 Jan 18.

Department of Neurology, Washington University School of Medicine, St. Louis, MO, USA.

Aim: To characterize the adaptive behavior profile of children with neurofibromatosis type 1 (NF1) and determine its relationship to neuropsychological functioning and non-neoplastic T2-weighted hyperintense brain lesions on brain magnetic resonance imaging (MRI).

Method: In this cross-sectional study, we retrospectively reviewed neuropsychological reports from 104 children with NF1 (56 males, 48 females; mean age 10y 4mo; standard deviation [SD] 3y 4mo; range 3y 5mo-17y 6mo), and extracted data from a range of cognitive and behavioral measures, including the Adaptive Behavior Assessment System (ABAS). Brain MRI was retrospectively reviewed in 42 individuals. Read More

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http://doi.wiley.com/10.1111/dmcn.14144
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http://dx.doi.org/10.1111/dmcn.14144DOI Listing
January 2019
12 Reads

A case report of hamartomatous polyposis in an individual with Neurofibromatosis type 1.

Clin Case Rep 2019 Jan 11;7(1):202-205. Epub 2018 Dec 11.

Baylor College of Medicine Houston Texas.

Even in well-described genetic syndromes, such as neurofibromatosis type 1, expansion of the phenotype should be considered as a possible explanation for atypical presentations. However, it is critical to complete the evaluation for a potential dual diagnosis, as there could be significant prognostic and management implications. Read More

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http://dx.doi.org/10.1002/ccr3.1908DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6333055PMC
January 2019
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Malignant paraganglioma of the posterior mediastinum: A case report with genetic analysis.

Mol Clin Oncol 2019 Jan 8;10(1):10-16. Epub 2018 Nov 8.

Division of Gastroenterology, Department of Internal Medicine, Sapporo Shirakaba-dai Hospital, Sapporo, Hokkaido 062-0052, Japan.

Paraganglioma and pheochromocytoma are rare neuroendocrine neoplasms that originate from chromaffin cells. In many of these tumors, several mutations are reported to occur in the genes of germline and/or somatic cells. A case of paraganglioma in the posterior mediastinum with highly malignant potential is reported. Read More

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http://www.spandidos-publications.com/10.3892/mco.2018.1758
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http://dx.doi.org/10.3892/mco.2018.1758DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6313888PMC
January 2019
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Nail bed solitary neurofibroma: A case report and literature review.

Medicine (Baltimore) 2019 Jan;98(3):e14111

Second Clinic of Surgery, Regional Institute of Oncology, University of Medicine and Pharmacy "Gr. T. Popa", Iaşi, Romania.

Rationale: Nail bed solitary neurofibroma is an extremely rare tumor, with only 9 cases recorded in the literature so far.

Patient Concern: We present the case of a 42-year-old female patient, with a history of a slowly growing tumor in the nail bed of the left index and no clinical features of type I neurofibromatosis.

Diagnosis: Nail bed solitary neurofibroma. Read More

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http://dx.doi.org/10.1097/MD.0000000000014111DOI Listing
January 2019
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Constipation with megacolon in a 36-year-old man: a rare presentation of MEN2B from Sri Lanka.

BMJ Case Rep 2019 Jan 14;12(1). Epub 2019 Jan 14.

Surgery, University Surgical Unit, National Hospital of Sri Lanka, Colombo, Sri Lanka.

Diffuse intestinal ganglioneuromatosis is a rare condition associated with MEN2B. It is also seen in conditions like neurofibromatosis type 1 and Cowden syndrome. This is a report of a patient who underwent total colectomy with end ileostomy creation for a megacolon. Read More

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http://dx.doi.org/10.1136/bcr-2018-227081DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6340592PMC
January 2019
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Long-term therapy with bevacizumab in a young patient affected by NF-2: a case report and review of the literature.

Anticancer Drugs 2019 Mar;30(3):318-321

Department of Medical Oncology, ASST-Settelaghi, Circolo's Hospital, Varese, Italy.

Neurofibromatosis type 2 (NF-2) is an autosomal dominant inherited disease caused by heterozygous mutations in the NF-2 tumor suppressor gene. It is characterized by the development of multiple benign tumors in the central nervous system. A majority of these tumors can be treated with surgery or radiotherapy in the case of the symptomatic disease. Read More

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http://dx.doi.org/10.1097/CAD.0000000000000732DOI Listing
March 2019
1 Read