16,678 results match your criteria Neurofibromatosis


An update on the genetics of benign pituitary adenomas in children and adolescents.

Curr Opin Endocr Metab Res 2018 Aug 24;1:19-24. Epub 2018 Apr 24.

Section on Endocrinology & Genetics (SEGEN), Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD), National Institutes of Health (NIH), Bethesda, MD, 20892, USA.

Pituitary adenomas in children and adolescents are rare tumors that often result from a tumor predisposition syndrome. Several inherited causes for pituitary adenomas have been identified in the last few years, including multiple endocrine neoplasia type 1 and 4, Carney's complex, Tuberous sclerosis, DICER1 syndrome, neurofibromatosis type 1, McCune Albright syndrome, familial isolated pituitary adenoma, and pituitary adenoma association due to defects in succinate dehydrogenase genes. Recently, our group discovered X-linked acrogigantism (X-LAG), a new pediatric disorder that is caused by an Xq26. Read More

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http://dx.doi.org/10.1016/j.coemr.2018.04.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6289528PMC

Frey syndrome in a child with neurofibromatosis type 1.

Acta Otorrinolaringol Esp 2018 Dec 11. Epub 2018 Dec 11.

Servicio de Otorrinolaringología, Hospital Clínico Universitario, Universidad de Valencia, Valencia, España.

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http://dx.doi.org/10.1016/j.otorri.2018.08.002DOI Listing
December 2018

[Constitutional MMR deficiency: Genetic bases and clinical implications].

Bull Cancer 2018 Dec 11. Epub 2018 Dec 11.

Paris Sciences Lettres Research University, institut Curie, département de génétique, 75005 Paris, France; Sorbonne Universités, UPMC université Paris 06, Centre de recherche Saint-Antoine, Inserm, CNRS, 75012 Paris, France. Electronic address:

Inherited mono-allelic mutation in one of the 4 major MMR genes results in Lynch syndrome which predisposes, in adulthood, mainly to colorectal and endometrial tumors characterized by microsatellite instability (MSI phenotype). Individuals with bi-allelic mutations of one of these genes developed early and multiple malignancies, most often in childhood. This recessively inherited condition is named CMMRD for Constitutional Mismatch Repair Deficiency. Read More

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http://dx.doi.org/10.1016/j.bulcan.2018.10.008DOI Listing
December 2018
3 Reads

Targeting IL-13Rα2 for effective treatment of malignant peripheral nerve sheath tumors in mouse models.

Authors:

J Neurosurg 2018 Nov 1:1-11. Epub 2018 Nov 1.

OBJECTIVEMalignant peripheral nerve sheath tumors (MPNSTs) are aggressive soft tissue sarcomas that harbor a high potential for metastasis and have a devastating prognosis. Combination chemoradiation aids in tumor control and decreases tumor recurrence but causes deleterious side effects and does not extend long-term survival. An effective treatment with limited toxicity and enhanced efficacy is critical for patients suffering from MPNSTs. Read More

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http://dx.doi.org/10.3171/2018.7.JNS18284DOI Listing
November 2018

NF1 regulates apoptosis in ovarian cancer cells by targeting MCL1 via miR-142-5p.

Pharmacogenomics 2018 Dec 13. Epub 2018 Dec 13.

Department of Biological Sciences & Technology, School of Life Sciences, Sun Yat-sen University, Guangzhou, PR China.

Aim: Neurofibromatosis type 1 (NF1) loss confers chemoresistance in multiple cancers. However, the etiology remains largely unknown. Our study aimed to scrutinize the role of NF1 in chemoresistant ovarian cancer and its underlying mechanism. Read More

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http://dx.doi.org/10.2217/pgs-2018-0161DOI Listing
December 2018

Brief report on similar mutational changes in neurofibromatosis type 2 gene in minute pulmonary meningothelial-like nodule and meningioma of the central nervous system.

Oncotarget 2018 Nov 13;9(89):36012-36016. Epub 2018 Nov 13.

Department of Chest Surgery, Fukushima Medical University School of Medicine, Fukushima 960-1295, Japan.

Introduction: Minute Pulmonary Meningothelial-like Nodules (MPMNs) are usually detected incidentally adjacent to lung cancer tissue. The pathogenesis is unknown. MPMNs reportedly share the status of neurofibromatosis (NF)-2 gene with meningiomas of the central nervous system. Read More

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http://dx.doi.org/10.18632/oncotarget.26325DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6267606PMC
November 2018

[New insight of craniofacial and oral findings of the RASopathies].

Zhonghua Kou Qiang Yi Xue Za Zhi 2018 Dec;53(12):858-861

Department of Cleft Lip and Palate Surgery, West China Hospital of Stomatology, Sichuan University & State Key Laboratory of Oral Diseases & National Clinical Research Center for Oral Diseases, Chengdu 610041, China.

The RASopathies are a group of syndromes that have in common germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway and have been a focus of study to understand the role of this pathway in development and disease. These syndromes include Noonan syndrome (NS), NS with multiple lentigines (NSML), neu-rofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

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December 2018

Neurofibromatosis Type 1 Vasculopathy Presenting as Impending Central Retinal Artery Occlusion.

J Neuroophthalmol 2018 Dec 11. Epub 2018 Dec 11.

Department of Ophthalmology, Duke University Medical Center, Durham, North Carolina.

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http://dx.doi.org/10.1097/WNO.0000000000000739DOI Listing
December 2018

[Management of vestibular schwannomas].

Laryngorhinootologie 2018 Dec 10;97(12):875-896. Epub 2018 Dec 10.

Vestibular schwannomas are benign neoplasms originating from the Schwann cells of the vestibular vestibular nerve of the vestibulocochlear nerve, and rarely from the pars cochlearis. These are tumors that are in contact with the nerve but do not bind the fibers. Benign neoplasms of the Schwann cells of the auditory and equilibrium nerves can also occur primarily in the inner ear and are referred to as intralabyrinthine schwannomas (ILS). Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0652-7096
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http://dx.doi.org/10.1055/a-0652-7096DOI Listing
December 2018
1 Read

Comprehensive anatomical and functional imaging in patients with type I neurofibromatosis using simultaneous FDG-PET/MRI.

Eur J Nucl Med Mol Imaging 2018 Dec 8. Epub 2018 Dec 8.

Department of Diagnostic and Interventional Radiology, University Hospital Tuebingen, Hoppe-Seyler-Str.3, 72076, Tuebingen, Germany.

Purpose: To demonstrate the clinical use of FDG-PET/MRI for monitoring enlargement and metabolism of plexiform neurofibromas (PNF) in patients with neurofibromatosis type 1 (NF1), in whom the development of a malignant peripheral nerve sheath tumor (MPNST) is often a life limiting event.

Methods: NF1 patients who underwent a simultaneous FDG-PET/MRI examination in our institution from September 2012 to February 2018 were included. Indication was suspicion of malignant transformation of a PNF to MPNST. Read More

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http://dx.doi.org/10.1007/s00259-018-4227-5DOI Listing
December 2018

The molecular landscape of glioma in patients with Neurofibromatosis 1.

Nat Med 2018 Dec 10. Epub 2018 Dec 10.

Institute for Cancer Genetics, Columbia University Medical Center, New York, NY, USA.

Neurofibromatosis type 1 (NF1) is a common tumor predisposition syndrome in which glioma is one of the prevalent tumors. Gliomagenesis in NF1 results in a heterogeneous spectrum of low- to high-grade neoplasms occurring during the entire lifespan of patients. The pattern of genetic and epigenetic alterations of glioma that develops in NF1 patients and the similarities with sporadic glioma remain unknown. Read More

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http://www.nature.com/articles/s41591-018-0263-8
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http://dx.doi.org/10.1038/s41591-018-0263-8DOI Listing
December 2018
4 Reads

Perioperative Recording of Cochlear Implant Evoked Brain Stem Responses After Removal of the Intralabyrinthine Portion of a Vestibular Schwannoma in a Patient with NF2.

Otol Neurotol 2019 Jan;40(1):e20-e24

Department of Otorhinolaryngology, Head and Neck Surgery, Martin Luther University Halle-Wittenberg, University Medicine Halle, Germany.

Objective: To predict and optimize hearing outcomes with a cochlear implant (CI) in patients with intracochlear schwannoma and neurofibromatosis type 2 (NF2).

Patient: A patient with NF2 and bilateral deafness.

Interventions: The intracochlear portion of a vestibular schwannoma was removed with a partial cochleoectomy. Read More

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http://dx.doi.org/10.1097/MAO.0000000000002056DOI Listing
January 2019

Breast cancer risk in neurofibromatosis type 1 is a function of the type of gene mutation: a new genotype-phenotype correlation.

J Med Genet 2018 Dec 10. Epub 2018 Dec 10.

Inherited Tumour Syndromes Research Group, Institute of Cancer & Genetics, Cardiff University, Cardiff, UK.

Background: Neurofibromatosis type 1 (NF1) predisposes to breast cancer (BC), but no genotype-phenotype correlations have been described.

Methods: Constitutional mutations in 78 patients with NF1 with BC (NF1-BC) were compared with the Leiden Open Variation Database (n=3432).

Results: No cases were observed with whole or partial gene deletions (HR 0. Read More

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http://dx.doi.org/10.1136/jmedgenet-2018-105599DOI Listing
December 2018
6.335 Impact Factor

Identifying the deficiencies of current diagnostic criteria for neurofibromatosis 2 using databases of 2777 individuals with molecular testing.

Genet Med 2018 Dec 7. Epub 2018 Dec 7.

Department of Genomic Medicine, St Mary's Hospital, Manchester Academic Health Sciences Centre (MAHSC), Division of Evolution and Genomic Science, University of Manchester, Manchester, UK.

Purpose: We have evaluated deficiencies in existing diagnostic criteria for neurofibromatosis 2 (NF2).

Methods: Two large databases of individuals fulfilling NF2 criteria (n = 1361) and those tested for NF2 variants with criteria short of diagnosis (n = 1416) were interrogated. We assessed the proportions meeting each diagnostic criterion with constitutional or mosaic NF2 variants and the positive predictive value (PPV) with regard to definite diagnosis. Read More

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http://dx.doi.org/10.1038/s41436-018-0384-yDOI Listing
December 2018
7.329 Impact Factor

Neurofibromatosis and psychosis: coincidence or co-occurrence?

Aust N Z J Psychiatry 2018 Dec 5:4867418818360. Epub 2018 Dec 5.

2 Department of Psychiatry, Natchaug Hospital, Mansfield Center, CT, USA.

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http://dx.doi.org/10.1177/0004867418818360DOI Listing
December 2018
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Comparison of hybrid 18F-fluorodeoxyglucose positron emission tomography/magnetic resonance imaging and positron emission tomography/computed tomography for evaluation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1.

World J Nucl Med 2018 Oct-Dec;17(4):241-248

Department of Radiology, NYU School of Medicine, New York, NY 10016, USA.

Rapidly enlarging, painful plexiform neurofibromas (PN) in neurofibromatosis type 1 (NF1) patients are at higher risk for harboring a malignant peripheral nerve sheath tumor (MPNST). Fludeoxyglucose (FDG) positron emission tomography/computed tomography (PET/CT) has been used to support more invasive diagnostic and therapeutic interventions. However, PET/CT imparts an untoward radiation hazard to this population with tumor suppressor gene impairment. Read More

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http://www.wjnm.org/text.asp?2018/17/4/241/244264
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http://dx.doi.org/10.4103/wjnm.WJNM_71_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6216733PMC
December 2018
2 Reads

JMML genomics and decisions.

Hematology Am Soc Hematol Educ Program 2018 Nov;2018(1):307-312

Department of Pediatrics and Adolescent Medicine, University Children's Hospital, University of Freiburg, Freiburg, Germany.

Juvenile myelomonocytic leukemia (JMML) is a unique clonal hematopoietic disorder of early childhood characterized by hyperactivation of the RAS signal transduction pathway. Approximately 90% of patients harbor molecular alteration in 1 of 5 genes (), which define genetically and clinically distinct JMML subtypes. Three subtypes, , and -mutated JMML, are characterized by heterozygous somatic gain-of-function mutations in non syndromic children, while two subtypes, JMML in neurofibromatosis type 1 and in JMML in children with CBL syndrome, are characterized by germ line RAS disease and acquired biallelic inactivation of the respective tumor suppressor genes in hematopoietic cells. Read More

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http://dx.doi.org/10.1182/asheducation-2018.1.307DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6245977PMC
November 2018
1 Read

The Rare Neurocutaneous Disorders: Update on Clinical, Molecular, and Neuroimaging Features.

Top Magn Reson Imaging 2018 Dec;27(6):433-462

Division of Pediatric Radiology and Pediatric Neuroradiology, Russell H. Morgan Department of Radiology and Radiological Science, Johns Hopkins University School of Medicine, Baltimore, MD.

Phakomatoses, also known as neurocutaneous disorders, comprise a vast number of entities that predominantly affect structures originated from the ectoderm such as the central nervous system and the skin, but also the mesoderm, particularly the vascular system. Extensive literature exists about the most common phakomatoses, namely neurofibromatosis, tuberous sclerosis, von Hippel-Lindau and Sturge-Weber syndrome. However, recent developments in the understanding of the molecular underpinnings of less common phakomatoses have sparked interest in these disorders. Read More

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http://dx.doi.org/10.1097/RMR.0000000000000185DOI Listing
December 2018
6 Reads

Arterial Stiffness in a Toddler with Neurofibromatosis Type 1 and Refractory Hypertension.

Case Rep Pediatr 2018 31;2018:5957987. Epub 2018 Oct 31.

1st Department of Pediatrics, Aristotle University Thessaloniki, Hippokration Hospital, Thessaloniki, Greece.

Arterial hypertension is a common finding in patients with neurofibromatosis (NF) type 1. Renovascular hypertension due to renal artery stenosis or midaortic syndrome could be the underlying cause. We report the case of a 4-year-old girl with NF type 1 and midaortic syndrome whose changes in blood pressure and pulse wave velocity suggested the evolution of vasculopathy, diagnosis of renovascular hypertension, and provided insights of response to treatment. Read More

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http://dx.doi.org/10.1155/2018/5957987DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6234438PMC
October 2018
1 Read

Bilateral Iris Mammillations in Amblyopic Eyes without Oculodermal Melanocytosis or Neurofibromatosis.

Case Rep Ophthalmol Med 2018 29;2018:2534042. Epub 2018 Oct 29.

Department of Ophthalmology, Teikyo University School of Medicine, Tokyo 173-8605, Japan.

Purpose: Iris mammillations are related to oculodermal melanosis and iris nevi. We report a rare case of bilateral simple iris mammillations without ocular melanosis or systemic neuronal disorders.

Case Report: A healthy 10-year-old Japanese girl was found incidentally to have bilateral iris mammillations while being treated for amblyopia. Read More

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http://dx.doi.org/10.1155/2018/2534042DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6231380PMC
October 2018
1 Read

A rare case of intracranial malignant triton tumor arising in the middle cranial fossa: a case report and review of the literature.

Folia Neuropathol 2018 ;56(3):229-234

We describe a rare case of intracranial malignant triton tumor (MTT) arising in the middle cranial fossa in a 74-year-old female patient who had previously been exposed to radiation in the Chernobyl disaster. The patient underwent a surgical subtotal removal of the mass and radiation therapy, but the progression-free survival was only 2.5 months and death occurred four months after the onset of symptoms. Read More

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http://dx.doi.org/10.5114/fn.2018.78704DOI Listing
January 2018
1 Read

Optic nerve sheath meningiomas: prevalence, impact, and management strategies.

Eye Brain 2018 24;10:85-99. Epub 2018 Oct 24.

Sydney Medical School, Discipline of Clinical Ophthalmology and Eye Health, University of Sydney, Sydney, NSW, Australia,

Optic nerve sheath meningiomas are rare benign neoplasms of the meninges surrounding the optic nerve. They are a significant cause of morbidity. While the mortality rate is practically zero, these tumors can blind or disfigure patients. Read More

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http://dx.doi.org/10.2147/EB.S144345DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6207092PMC
October 2018
1 Read

Differentiation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1 using diffusion-weighted magnetic resonance imaging.

Neuro Oncol 2018 Nov 28. Epub 2018 Nov 28.

Department of Diagnostic and Interventional Radiology and Nuclear Medicine, University Medical Center Hamburg-Eppendorf, Martinistraße, Hamburg, Germany.

Background: To determine the value of diffusion-weighted (DW) magnetic resonance imaging (MRI) for characterization of benign and malignant peripheral nerve sheath tumors (PNSTs) in patients with neurofibromatosis type 1 (NF1).

Methods: Twenty-six patients with NF1 and suspicion of malignant transformation of PNSTs were prospectively enrolled, and underwent DW MRI at 3T. For a set of benign (n=55) and malignant (n=12) PNSTs, functional MRI parameters were derived from both biexponential intravoxel incoherent motion (diffusion coefficient D and perfusion fraction f) and monoexponential data analysis (apparent diffusion coefficients (ADCs)). Read More

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http://dx.doi.org/10.1093/neuonc/noy199DOI Listing
November 2018
1 Read

Pediatric intramedullary schwannoma with syringomyelia: a case report and literature review.

BMC Pediatr 2018 Nov 28;18(1):374. Epub 2018 Nov 28.

Department of Neurosurgery, Beijing Jishuitan Hospital, NO31, Xinjiekou East Street, Xicheng District, Beijing, 100035, China.

Background: Intramedullary schwannomas without neurofibromatosis are exceedingly rare. They are rarer in children with only 8 cases reported so far. The association of intramedullary schwannomas with syringomyelia is also rare. Read More

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http://dx.doi.org/10.1186/s12887-018-1341-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6264594PMC
November 2018
1 Read

C2 neurofibromas in neurofibromatosis type 1: genetic and imaging characteristics.

Authors:

J Neurosurg Spine 2018 Oct 1:1-7. Epub 2018 Oct 1.

OBJECTIVEC2 nerve root neurofibromas have been reported frequently in patients with neurofibromatosis type 1 (NF1), although their genetic and imaging characteristics are unexplored. The aim of this study was to characterize genetic and spinal imaging findings in a large cohort of NF1 patients with C2 neurofibromas.METHODSThe authors performed a review of national NF1 referrals between 2009 and 2016. Read More

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http://dx.doi.org/10.3171/2018.7.SPINE171340DOI Listing
October 2018
1 Read

Appendiceal neurofibroma with low-grade appendiceal mucinous neoplasm in neurofibromatosis type 1 patient: A case report.

Int J Surg Case Rep 2018 13;53:377-380. Epub 2018 Nov 13.

Department of Gastroenterological Surgery, Hiroshima City Asa Citizens Hospital, Japan.

Introduction: Neurofibromas are a characteristic of the autosomal dominant disorder Neurofibromatosis type 1 (NF1), also known as von Recklinghausen's disease. Appendiceal neurofibromas are extremely rare, and low-grade appendiceal mucinous neoplasms (LAMNs) have not previously been reported in NF1.

Presentation Of Case: A 62-year-old man with NF1 was scheduled for elective surgical treatment of an asymptomatic, enlarged and diffusely thickened appendix that remained after curative antimicrobial treatment of acute appendicitis. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22102612183050
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http://dx.doi.org/10.1016/j.ijscr.2018.11.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6260368PMC
November 2018
4 Reads

NF1 heterozygosity fosters de novo tumorigenesis but impairs malignant transformation.

Nat Commun 2018 11 27;9(1):5014. Epub 2018 Nov 27.

Department of Dermatology, University of Texas Southwestern Medical Center, Dallas, TX, 75390, USA.

Neurofibromatosis type 1 (NF1) is an autosomal genetic disorder. Patients with NF1 are associated with mono-allelic loss of the tumor suppressor gene NF1 in their germline, which predisposes them to develop a wide array of benign lesions. Intriguingly, recent sequencing efforts revealed that the NF1 gene is frequently mutated in multiple malignant tumors not typically associated with NF1 patients, suggesting that NF1 heterozygosity is refractory to at least some cancer types. Read More

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http://dx.doi.org/10.1038/s41467-018-07452-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258697PMC
November 2018
2 Reads

Ultra-deep amplicon sequencing indicates absence of low-grade mosaicism with normal cells in patients with type-1 NF1 deletions.

Hum Genet 2018 Nov 26. Epub 2018 Nov 26.

Institute of Human Genetics, University of Ulm, Albert-Einstein-Allee 11, 89081, Ulm, Germany.

Different types of large NF1 deletion are distinguishable by breakpoint location and potentially also by the frequency of mosaicism with normal cells lacking the deletion. However, low-grade mosaicism with fewer than 10% normal cells has not yet been excluded for all NF1 deletion types since it is impossible to assess by the standard techniques used to identify such deletions, including MLPA and array analysis. Here, we used ultra-deep amplicon sequencing to investigate the presence of normal cells in the blood of 20 patients with type-1 NF1 deletions lacking mosaicism according to MLPA. Read More

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http://dx.doi.org/10.1007/s00439-018-1961-5DOI Listing
November 2018
1 Read

Usp9X Regulates Cell Death in Malignant Peripheral Nerve Sheath Tumors.

Sci Rep 2018 Nov 26;8(1):17390. Epub 2018 Nov 26.

Department of Pathology & Cell Biology, Columbia University Vagelos College of Physicians and Surgeons, New York, USA.

Malignant peripheral nerve sheath tumors (MPNSTs) are the leading cause of death in neurofibromatosis type 1 (NF1) patients. Current treatment modalities have been largely unsuccessful in improving MPNST patient survival, making the identification of new therapeutic targets urgent. In this study, we found that interference with Usp9X, a deubiquitinating enzyme which is overexpressed in nervous system tumors, or Mcl-1, an anti-apoptotic member of the Bcl-2 family whose degradation is regulated by Usp9X, causes rapid death in human MPNST cell lines. Read More

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http://www.nature.com/articles/s41598-018-35806-5
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http://dx.doi.org/10.1038/s41598-018-35806-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6255814PMC
November 2018
12 Reads

Conditional Inactivation of and in Schwann Cells Results in Abnormal Neuromuscular Junction Maturation.

G3 (Bethesda) 2018 Nov 26. Epub 2018 Nov 26.

The Hong Kong Polytechnic University

The neuromuscular junction (NMJ) consists of three components, namely presynaptic motor neurons, postsynaptic muscle fibers and perisynaptic Schwann cells (PSCs). The role of Schwann cells (SCs) in regulating NMJ structural and functional development remains unclear. In this study, mice with conditional inactivation of () and (), specifically in SCs, resulted in delayed NMJ maturation that led to delayed muscle growth, recapitulating the muscular dystrophy condition observed in human neurofibromatosis type I syndrome (NF1) patients. Read More

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http://dx.doi.org/10.1534/g3.118.200795DOI Listing
November 2018
1 Read

Tonic ATP-mediated growth suppression in peripheral nerve glia requires arrestin-PP2 and is evaded in NF1.

Acta Neuropathol Commun 2018 Nov 23;6(1):127. Epub 2018 Nov 23.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital, 3333 Burnet Ave., ML 7017, Cincinnati, OH, 45229, USA.

Normal Schwann cells (SCs) are quiescent in adult nerves, when ATP is released from the nerve in an activity dependent manner. We find that suppressing nerve activity in adult nerves causes SC to enter the cell cycle. In vitro, ATP activates the SC G-protein coupled receptor (GPCR) P2Y2. Read More

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http://dx.doi.org/10.1186/s40478-018-0635-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6251093PMC
November 2018
4 Reads

Imaging Findings in Syndromes with Temporal Bone Abnormalities.

Neuroimaging Clin N Am 2019 Feb 29;29(1):117-128. Epub 2018 Oct 29.

Department of Radiology, University of Chicago, Pritzker School of Medicine, 5841 South Maryland Avenue, Chicago, IL 60637, USA. Electronic address:

There is a wide variety of congenital syndromes that can involve the temporal bone. Many of these have overlapping features due to common embryologic abnormalities, such as first and second branchial anomalies. Diagnostic imaging is often important in the workup of hearing deficits related to congenital syndromes. Read More

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http://dx.doi.org/10.1016/j.nic.2018.08.004DOI Listing
February 2019
8 Reads

Adult-onset kaposiform hemangioendothelioma with neurofibromatosis type 1: A case report and literature review.

Arch Plast Surg 2018 Nov 15;45(6):583-587. Epub 2018 Nov 15.

Department of Plastic and Reconstructive Surgery, Bucheon St. Mary's Hospital, College of Medicine, The Catholic University of Korea, Seoul, Korea.

Kaposiform hemangioendothelioma (KHE) is a very rare, locally aggressive vascular neoplasm. It occurs mostly in children and is rarely observed in adults. It typically originates on the skin, later affecting the deep soft tissue of the extremities, head or neck, and retroperitoneum by infiltrative growth. Read More

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http://dx.doi.org/10.5999/aps.2017.01032DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6258975PMC
November 2018
1 Read

Pain, skin sensations symptoms, and cognitive functioning predictors of health-related quality of life in pediatric patients with Neurofibromatosis Type 1.

Qual Life Res 2018 Nov 21. Epub 2018 Nov 21.

Children's Health Services Research, Department of Pediatrics, Indiana University School of Medicine, Indianapolis, IN, USA.

Objectives: The aim was to investigate pain, skin sensations symptoms and patient self-reported, and parent proxy-reported cognitive functioning as predictors of generic health-related quality of life (HRQOL) in pediatric patients with Neurofibromatosis Type 1 (NF1) from the perspectives of patients and parents.

Methods: The Pain, Skin Itch Bother, Skin Sensations, and Cognitive Functioning Scales from the PedsQL™ Neurofibromatosis Type 1 Module and the PedsQL™ Generic Core Scales were completed in a multi-site national study by 323 patients and 335 parents. Patients were 5-25 years of age. Read More

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http://dx.doi.org/10.1007/s11136-018-2055-5DOI Listing
November 2018
3 Reads

Microduplication of 15q13.3 and Microdeletion of 18q21.32 in a Patient with Moyamoya Syndrome.

Int J Mol Sci 2018 Nov 20;19(11). Epub 2018 Nov 20.

Cerebrovascular Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.

Moyamoya angiopathy (MA) is a cerebrovascular disease determining a progressive stenosis of the terminal part of the internal carotid arteries (ICAs) and their proximal branches and the compensatory development of abnormal "moyamoya" vessels. MA occurs as an isolated cerebral angiopathy (so-called moyamoya disease) or in association with various conditions (moyamoya syndromes) including several heritable conditions such as Down syndrome, neurofibromatosis type 1 and other genomic defects. Although the mechanism that links MA to these genetic syndromes is still unclear, it is believed that the involved genes may contribute to the disease susceptibility. Read More

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http://dx.doi.org/10.3390/ijms19113675DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6274901PMC
November 2018
3 Reads

Progression of hearing loss in neurofibromatosis type 2 according to genetic severity.

Laryngoscope 2018 Nov 19. Epub 2018 Nov 19.

Oxford NF2 Unit, Neurosciences, Oxford, United Kingdom.

Objectives/hypothesis: This study set out to describe the progression of hearing loss in patients with neurofibromatosis type 2 (NF2), treated in a quaternary multidisciplinary clinic. It also aimed to compare hearing loss across patients grouped according to a known genetic severity score to explore its utility for prognostication.

Study Design: Retrospective cohort study. Read More

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http://doi.wiley.com/10.1002/lary.27586
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http://dx.doi.org/10.1002/lary.27586DOI Listing
November 2018
9 Reads

Revision Surgery for Vestibular Schwannomas.

J Neurol Surg B Skull Base 2018 Dec 9;79(6):528-532. Epub 2018 Apr 9.

House Clinic, Los Angeles, California, United States.

 To describe clinical outcomes of patients undergoing revision surgery for vestibular schwannomas.  Retrospective case series.  Tertiary private neurotologic practice. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/s-0038-1635256
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http://dx.doi.org/10.1055/s-0038-1635256DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6239869PMC
December 2018
6 Reads

Choroidal Ganglioneuronal Hamartoma in Neurofibromatosis Type-1.

J Pediatr Ophthalmol Strabismus 2018 Nov;55(6):412

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http://dx.doi.org/10.3928/01913913-20180709-04DOI Listing
November 2018
1 Read

A case of neurofibromatosis type 2 (NF2) with classic imaging and skin findings.

Med J Armed Forces India 2018 Oct 5;74(4):407-409. Epub 2017 Oct 5.

Classified Specialist (ENT), Command Hospital (Central Command), Lucknow, India.

Neurofibromatosis is a neurocutaneous, tumor predisposing, inheritable disorder characterized by tumors of the brain and spine and the presence of skin lesions. The most important tumors associated with neurofibromatosis are vestibular nerve schwannomas, with others being meningiomas and ependymomas. The cord is also affected by tumors, ependymoma being the commonest, besides meningiomas and schwannomas. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03771237173112
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http://dx.doi.org/10.1016/j.mjafi.2017.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6224702PMC
October 2018
7 Reads

Neurofibromatosis type 1 as a model system to study molecular mechanisms of autism spectrum disorder symptoms.

Prog Brain Res 2018 25;241:37-62. Epub 2018 Oct 25.

Department of Psychiatry, Institute of Psychiatric Research, IU School of Medicine, Indianapolis, IN, United States; Stark Neurosciences Research Institute, IU School of Medicine, Indianapolis, IN, United States; Department of Pharmacology & Toxicology, IU School of Medicine, Indianapolis, IN, United States; Indiana Clinical and Translational Institute, IU School of Medicine, Indianapolis, IN, United States.

Neurofibromatosis type 1 (NF1) is monogenic neurodevelopmental disorder caused by mutation of NF1 gene, which leads to increased susceptibility to various tumors formations. Additionally, majority of patients with NF1 are experience high incidence of cognitive deficits. Particularly, we review the growing number of reports demonstrated a higher incidence of autism spectrum disorder (ASD) in individuals with NF1. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00796123183012
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http://dx.doi.org/10.1016/bs.pbr.2018.09.014DOI Listing
October 2018
4 Reads

Measurement considerations in pediatric research on autism spectrum disorders.

Prog Brain Res 2018 1;241:193-220. Epub 2018 Nov 1.

Neuropsychology, Children's National Health System, Washington, DC, United States.

Studying Autism Spectrum Disorders (ASD) in genetic syndromes has gained interest in the scientific community as a way to elucidate mechanisms and symptom profiles to understand ASD more broadly. Appropriate and adequate measurement of constructs, symptomatology, and outcomes in clinical research is of vital importance in establishing the prevalence of such symptoms and measuring change in symptoms in the context of clinical trials. As such, we provide an overview of the prevalence of ASD, present current diagnostic guidelines, discuss important comorbidities to consider, describe current assessment strategies in assessing ASD, and discuss these within the context of a specific genetic condition to highlight how ASD can be best evaluated. Read More

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http://dx.doi.org/10.1016/bs.pbr.2018.09.015DOI Listing
November 2018
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Studying child development in genetic models of ASD.

Prog Brain Res 2018 1;241:159-192. Epub 2018 Nov 1.

Division of Neuroscience & Experimental Psychology, School of Biological Sciences, University of Manchester, Manchester, United Kingdom; Manchester Academic Health Science Centre, Manchester University NHS Foundation Trust, Greater Manchester Mental Health NHS Trust, Manchester, United Kingdom. Electronic address:

This chapter approaches the early development in autism spectrum disorder (ASD) through comparative study of some key monogenic syndromic models of ASD in humans. Using this method, as well as referring to relevant work in idiopathic ASD, we address three complimentary areas: (i) patterns of ASD behavioral phenotype expression across genetic syndromes, as a way of addressing gene-phenotype correlations; (ii) longitudinal developmental trajectories toward autism in early childhood, as a way of addressing developmental specificity; and (iii) experimental intervention trials, for treatment and mechanism discovery. The comparative approach does not highlight striking phenotypic specificity, but early studies were often limited and more methodologically sophisticated recent studies may suggest subtle distinctions. Read More

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http://dx.doi.org/10.1016/bs.pbr.2018.09.009DOI Listing
November 2018
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Gingival Neurofibroma With Teardrop-Shaped Defects of the Interdental Alveolar Bone: An Unusual Oral Manifestation of Neurofibromatosis Type 1.

J Craniofac Surg 2018 Nov 15. Epub 2018 Nov 15.

Department of Oral and Maxillofacial Surgery II, Osaka University Graduate School of Dentistry, Osaka, Japan.

Gingival enlargement, although frequently encountered in clinical settings, is rarely associated with systemic diseases or syndromes. Among the diverse pathological conditions of neurofibromatosis type 1 (NF-1), minor manifestations in the orofacial region are occasionally overlooked. Herein, the authors present an unusual case of gingival neurofibroma in a patient with NF-1 associated with characteristic osseous defects in the alveolus in the long-term course of 17 years from the first examination. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005094DOI Listing
November 2018
81 Reads
0.676 Impact Factor

[Dermal Clues to Systemic Diseases].

Dtsch Med Wochenschr 2018 Nov 15;143(23):1690-1699. Epub 2018 Nov 15.

Many systemic diseases go along with dermal involvement. Only a few of systemic diseases show characteristic skin derangements directly leading to the diagnosis of the underlying disease. Ten of these entities are described within this article. Read More

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http://www.thieme-connect.de/DOI/DOI?10.1055/a-0569-3822
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http://dx.doi.org/10.1055/a-0569-3822DOI Listing
November 2018
9 Reads

Coexistence of neurofibromatosis type 1 with multiple malignant neoplasia.

Neuro Endocrinol Lett 2018 Sep;39(3):149-155

Clinical Department of Endocrinology, Jagiellonian University in Krakow, Poland.

Neurofibromatosis type 1 (NF1, von Recklinghausen disease) is inherited in autosomal dominant way genetic disorder, with an incidence at birth 1:3000. It is one of the most common congenital disorders. It is characterized by café-au-lait spots, neurofibromas, and less common MPTST and gliomas of the optic nerve. Read More

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September 2018
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Neuromuscular Ultrasound: Clinical Applications and Diagnostic Values.

Can J Neurol Sci 2018 Nov;45(6):605-619

2Department of Neurology and Clinical Neurophysiology,Donders Institute for Brain,Cognition and Behaviour,Radboud University Medical Center,Nijmegen,The Netherlands.

Advances in high-resolution ultrasound have provided clinicians with unique opportunities to study diseases of the peripheral nervous system. Ultrasound complements the clinical and electrophysiology exam by showing the degree of abnormalities in myopathies, as well as spontaneous muscle activities in motor neuron diseases and other disorders. In experienced hands, ultrasound is more sensitive than MRI in detecting peripheral nerve pathologies. Read More

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http://dx.doi.org/10.1017/cjn.2018.314DOI Listing
November 2018
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Whole-body magnetic resonance imaging (WB-MRI) in oncology: recommendations and key uses.

Radiol Med 2018 Nov 14. Epub 2018 Nov 14.

Department of Radiology, IEO, European Institute of Oncology IRCCS, Milan, Italy.

The past decade has witnessed a growing role and increasing use of whole-body magnetic resonance imaging (WB-MRI). Driving these successes are developments in both hardware and software that have reduced overall examination times and significantly improved MR imaging quality. In addition, radiologists and clinicians have continued to find promising new applications of this innovative imaging technique that brings together morphologic and functional characterization of tissues. Read More

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http://dx.doi.org/10.1007/s11547-018-0955-7DOI Listing
November 2018
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Use of hyperbaric oxygen therapy in pediatric neuro-oncology: a single institutional experience.

J Neurooncol 2018 Nov 13. Epub 2018 Nov 13.

Department of Neurosciences, University of California San Diego, La Jolla, CA, USA.

Introduction: Hyperbaric oxygen therapy (HBOT) has been utilized as adjunctive treatment of CNS tumors and for radiation necrosis (RN) with reported success. The safety and efficacy in pediatric patients is less understood.

Methods: Seven patients (ages 10-23 years, six females) were treated with HBOT (3-60 sessions) for either RN (n = 5) or tumor-associated edema (n = 2). Read More

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http://link.springer.com/10.1007/s11060-018-03021-x
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http://dx.doi.org/10.1007/s11060-018-03021-xDOI Listing
November 2018
4 Reads

Genetic Evaluation of Common Neurocutaneous Syndromes.

Pediatr Neurol 2018 Dec 10;89:3-10. Epub 2018 Aug 10.

Department of Pediatric Genetics, Dokuz Eylül University Medical School, Izmir, Turkey.

The neurocutaneous syndromes are a group of multisystem disorders that affect the skin and central nervous system. Neurofibromatosis 1, neurofibromatosis 2, tuberous sclerosis complex, and Sturge-Weber syndrome are the four major neurocutaneous disorders that mainly present in childhood. In this review, we discuss the clinical findings and genetic diagnosis, related genes/pathways and genotype-phenotype correlations of these four neurocutaneous syndromes. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S08878994183033
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http://dx.doi.org/10.1016/j.pediatrneurol.2018.08.006DOI Listing
December 2018
4 Reads