16,874 results match your criteria Neurofibromatosis


Neurofibromatosis Type 1 - Association with Breast Cancer, Basal Cell Carcinoma of the Skin, and Low-Grade Peripheral Nerve Sheath Sarcoma: Case Report and Literature Review.

Case Rep Oncol 2019 Jan-Apr;12(1):228-234. Epub 2019 Mar 5.

Clinical Oncology, Instituto Nacional de Cancerologia, Bogota, Colombia.

Neurofibromatosis type 1 is a rare medical condition that raises the probability of having distinct types of malignant and benign neoplasms. Nevertheless, the association with breast cancer is rare, and metachronic neoplasia with a distinct histologic subtype is an association that has never been reported before. Here we describe a case of a primary breast tumor, with posterior development of basal cell carcinoma of the skin, and a low-grade peripheral nerve sheath sarcoma. Read More

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http://dx.doi.org/10.1159/000496684DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6465749PMC

Health Supervision for Children With Neurofibromatosis Type 1.

Pediatrics 2019 Apr 22. Epub 2019 Apr 22.

Neurofibromatosis type 1 (NF1) is a multisystem disorder that primarily involves the skin and peripheral nervous system. Its population prevalence is approximately 1 in 3000. The condition is usually recognized in early childhood, when pigmentary manifestations emerge. Read More

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http://dx.doi.org/10.1542/peds.2019-0660DOI Listing

Towards a neurobiological understanding of pain in neurofibromatosis type 1: mechanisms and implications for treatment.

Pain 2019 May;160(5):1007-1018

Departments of Pharmacology and.

Neurofibromatosis type 1 (NF1) is the most common of a group of rare diseases known by the term, "Neurofibromatosis," affecting 1 in 3000 to 4000 people. NF1 patients present with, among other disease complications, café au lait patches, skin fold freckling, Lisch nodules, orthopedic complications, cutaneous neurofibromas, malignant peripheral nerve sheath tumors, cognitive impairment, and chronic pain. Although NF1 patients inevitably express pain as a debilitating symptom of the disease, not much is known about its manifestation in the NF1 disease, with most current information coming from sporadic case reports. Read More

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http://dx.doi.org/10.1097/j.pain.0000000000001486DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6478401PMC

Spontaneous rotational dislocation of the lumbar spine in type 1 neurofibromatosis: A case report and literature review.

Medicine (Baltimore) 2019 Apr;98(16):e15258

Department of Spine, Shandong Provincial Hospital Affiliated to Shandong University, Jinan, Shandong Province, China.

Rationale: Scoliosis is the most common form of dystrophic spinal deformities in type 1 neurofibromatosis, whereas a spontaneous rotational dislocation of the lumbar spine is a rare entity. Former researchers had advocated the use of circumferential fusion performed through combined anterior-posterior approaches as the mode of treatment of this situation, but we managed to achieve a solid circumferential fusion equally using posterior approach alone.

Patient Concerns: A 51-year-old lady presented with severe back pain and no history of trauma, fever, or loss of weight. Read More

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http://dx.doi.org/10.1097/MD.0000000000015258DOI Listing

Hereditary segmental neurofibromatosis: a report of three cases in a family.

BMJ Case Rep 2019 Apr 20;12(4). Epub 2019 Apr 20.

Plastic Surgery, Himalayan Institute of Medical Sciences, Dehradun, Uttarakhand, India.

Hereditary segmental neurofibromatosis (SNF) is an extremely rare form of SNF with nine families reported till date. SNF is considered to be a result of mosaicism and hereditary transmission is possibly explained by increased susceptibility of mutations at neurofibromatosis gene loci. We report here three members of an Indian family with SNF. Read More

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http://casereports.bmj.com/lookup/doi/10.1136/bcr-2018-22882
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http://dx.doi.org/10.1136/bcr-2018-228826DOI Listing
April 2019
1 Read

Early and Mid-term Outcomes of Surgical Correction for Severe Dystrophic Cervical Kyphosis in Patients with Neurofibromatosis Type 1: a Retrospective Multicenter Study.

World Neurosurg 2019 Apr 17. Epub 2019 Apr 17.

Department of Spine Surgery, The First Affiliated Hospital, University of South China, 69 Chuanshan Road, Hengyang 421001, Hunan, P.R. China. Electronic address:

Objective: To evaluate the early and mid-term outcomes of surgical correction for severe dystrophic cervical kyphosis in patients with neurofibromatosis type 1 (NF-1) and analyze the pathomechanics and the influence on surgical efficacy of related systemic skeletal dystrophy.

Methods: Ten patients who underwent surgical correction for NF-1-related severe dystrophic cervical kyphosis were reviewed. Radiographic parameters, including local and global Cobb angle, sagittal vertical axis (SVA) and T-1 slope, were measured. Read More

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http://dx.doi.org/10.1016/j.wneu.2019.04.096DOI Listing
April 2019
1 Read

Dural Ectasia of the Optic Nerve: A Rare Presentation in Neurofibromatosis Type I.

J Neurosci Rural Pract 2019 Apr-Jun;10(2):349-351

Department of Diagnostic and Interventional Radiology, All India Institute of Medical Sciences, Jodhpur, Rajasthan, India.

Neurofibromatosis Type 1 (NF-1) is a common neurocutaneous syndrome with a characteristic spectrum of pathologies affecting the optic pathway. Optic pathway glioma and optic nerve meningioma are two such common afflictions of the optic nerve in NF-1. Dural ectasia of the optic nerve also known as optic nerve meningocele is a rare manifestation of optic nerve involvement in NF-1. Read More

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http://www.ruralneuropractice.com/text.asp?2019/10/2/349/254
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http://dx.doi.org/10.4103/jnrp.jnrp_232_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454956PMC
April 2019
6 Reads

Brain gliomas, hydrocephalus and idiopathic aqueduct stenosis in children with neurofibromatosis type 1.

Brain Dev 2019 Apr 15. Epub 2019 Apr 15.

Department of Neurosurgery, Second Faculty of Medicine, Charles University in Prague and Motol University Hospital, Prague, Czech Republic.

Purpose: To evaluate the incidence and clinical importance of brain gliomas - optic pathway gliomas (OPGs) and especially gliomas outside the optic pathway (GOOP) for children with neurofibromatosis type 1 (NF1), additionally, to assess the causes of obstructive hydrocephalus in NF1 children with an emphasis on cases caused by idiopathic aqueduct stenosis.

Subjects And Methods: We analysed data from 285 NF1 children followed up on our department from 1990 to 2010 by the same examination battery.

Results: We have found OPGs in 77/285 (27%) children and GOOPs in 29/285 (10,2%) of NF1 children, of who 19 had OPG and GOOP together, so the total number of brain glioma was 87/285 (30,5%). Read More

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https://linkinghub.elsevier.com/retrieve/pii/S03877604183048
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http://dx.doi.org/10.1016/j.braindev.2019.04.003DOI Listing
April 2019
1 Read

Yasunari Nodules: A New Sensitive and Specific Marker of Neurofibromatosis Type 1, Readily Detectable by Ophthalmologists.

Klin Monbl Augenheilkd 2019 Apr 18;236(4):480-482. Epub 2019 Apr 18.

Jules Gonin Eye Hospital, University of Lausanne, Neuro-Ophthalmology Unit, Lausanne, Switzerland.

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http://dx.doi.org/10.1055/a-0829-6725DOI Listing

Pulmonary arterial hypertension: A rare yet fatal complication of Neurofibromatosis Type 1.

Respir Med Case Rep 2019 1;27:100832. Epub 2019 Apr 1.

Oak Hill Hospital Brooksville, FL, 34613, USA.

Neurofibromatosis Type 1 () is an autosomal dominant genetic disorder with an incidence of approximately 1 in 4,000 live births . Pulmonary arterial hypertension (PAH) is a rare but extremely life-threatening complication associated with . Timely recognition of this unusual and severe association between and PAH is imperative in prolonging the survival in this specific patient population. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S22130071193000
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http://dx.doi.org/10.1016/j.rmcr.2019.100832DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6451192PMC
April 2019
1 Read

Congenital pseudarthrosis of the tibia: biological and biomechanical considerations to achieve union and prevent refracture.

Authors:
D Paley

J Child Orthop 2019 Apr;13(2):120-133

Paley Orthopedic and Spine Institute, West Palm Beach, Florida, United States.

Congenital pseudarthrosis of the tibia (CPT) is likely to be a primary periosteal disease and secondary bone disease. The primary goal of treatment is to obtain union, correct the diaphyseal deformity, correct any proximal fibular migration and prevent refracture. The pathobiology demonstrates increased osteoclasis by the surrounding fibrous hamartoma and reduced osteogenesis and bone morphogenic protein production by the bone. Read More

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https://online.boneandjoint.org.uk/doi/10.1302/1863-2548.13.
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http://dx.doi.org/10.1302/1863-2548.13.180147DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6442511PMC
April 2019
1 Read

Trends in phenotype in the English paediatric Neurofibromatosis Type 2 cohort stratified by genetic severity.

Clin Genet 2019 Apr 16. Epub 2019 Apr 16.

Oxford NF2 Unit, Oxford University Hospitals NHS Foundation Trust.

Childhood onset neurofibromatosis type 2 can be severe and genotype dependent. We present a retrospective phenotypic analysis of all ascertained children in England Read More

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https://onlinelibrary.wiley.com/doi/abs/10.1111/cge.13551
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http://dx.doi.org/10.1111/cge.13551DOI Listing
April 2019
3 Reads

High-functioning autism spectrum disorder with fluent speech and late-onset epilepsy: an unusual presentation of Inv-Dup (15) syndrome.

Neurocase 2019 Apr 16:1-4. Epub 2019 Apr 16.

c Department of Neuroscience, Reproductive and Odontostomatological Sciences, Epilepsy Centre , "Federico II" University of Naples , Naples , Italy.

Many neuropsychiatric phenotypes have been reported in association with rearrangements in the 15q11-q13 region. Clinical presentations can include hypotonia, developmental delay, severe/moderate intellectual disabilities, poor expressive language, difficult to treat epilepsy, and autism spectrum disorders. Here we report an additional case of a girl with inversion duplication on chromosome 15 (Inv-Dup 15) showing a peculiar and milder clinical phenotype, including atypical high-functioning autism disorder, late onset and drug-responsive epilepsy, and a relatively good language development . Read More

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http://dx.doi.org/10.1080/13554794.2019.1602144DOI Listing
April 2019
1 Read

[Neurofibromatosis 1].

Authors:
Yuichi Yoshida

Brain Nerve 2019 Apr;71(4):368-372

Division of Dermatology, Department of Medicine of Sensory and Motor Organs, Tottori University School of Medicine.

A large number of genetic neurological disorders are accompanied by dermatological manifestations. Among them, neurofibromatosis 1 (NF1, Recklinghausen disease) is characterized by pigmented macules, such as café au lait macules, freckling and numerous neurofibromas. Neurological complications are also seen in NF1 and it is important to conduct appropriate imaging studies for a correct diagnosis. Read More

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http://dx.doi.org/10.11477/mf.1416201278DOI Listing
April 2019
2 Reads

Next Generation Sequencing Identified a Novel Multi Exon Deletion of the Gene in a Chinese Pedigree with Neurofibromatosis Type 1.

Balkan J Med Genet 2018 Dec 31;21(2):45-48. Epub 2018 Dec 31.

Gansu Provincial Maternity and Child-Care Hospital, LanZhou, Gansu Province, People's Republic of China Wuwei City, China.

Neurofibromatosis type 1 (NF1) is a genetic disease involving neurocutaneous abnormalities. Neurofibromatosis type 1 is an autosomal dominant disorder characterized by the neurofibromas and café-au-lait spots. Mutation in the gene causes NF1. Read More

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http://dx.doi.org/10.2478/bjmg-2018-0019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6454241PMC
December 2018
1 Read

Painful Vater-Pacini neuroma of the digit in neurofibromatosis type 1.

GMS Interdiscip Plast Reconstr Surg DGPW 2019 8;8:Doc03. Epub 2019 Feb 8.

Institute of Neuropathology, Eppendorf University Hospital, University of Hamburg, Germany.

Vater-Pacini neuromas are rare causes of severe pain in the phalanges. The cause of this change in the tactile corpuscles is unknown. A traumatic cause has been plausibly demonstrated, at least in some cases. Read More

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http://dx.doi.org/10.3205/iprs000129DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6441816PMC
February 2019
1 Read

C1q Nephropathy in a Patient of Neurofibromatosis Type 1: A Rare Case Report.

Indian J Nephrol 2019 Mar-Apr;29(2):125-127

Department of Nephrology and Transplantation Medicine, G.R. Doshi and K.M. Mehta Institute of Kidney Diseases and Research Centre - Dr. H.L. Trivedi Institute of Transplantation Sciences, Ahmedabad, Gujarat, India.

C1q nephropathy is a rare glomerular disease defined by the presence of characteristic mesangial dominant or codominant C1q deposition on immunofluorescence microscopy. Neurofibromatosis type 1 (NF-1) is an autosomal dominant syndrome caused by a mutation of a gene located on chromosomal segment 17q11.2. Read More

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http://www.indianjnephrol.org/preprintarticle.asp?id=252208
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http://dx.doi.org/10.4103/ijn.IJN_353_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440327PMC
April 2019
2 Reads

Germline missense NF1 mutation in an elderly patient with a blastic plasmacytoid dendritic cell neoplasm.

Int J Hematol 2019 Apr 11. Epub 2019 Apr 11.

Department of Hematology and Bone Marrow Transplantation, Poznan University of Medical Sciences, Szamarzewskiego 84, Greater Poland, 60-569, Poznan, Poland.

Neurofibromatosis type 1 is an autosomal dominantly inherited tumor predisposition syndrome, in which inactivating mutations in the neurofibromatosis type 1 gene (NF1) lead to a prolonged activation of the signaling via the RAS/RAF/MAPK pathway leading to loss of growth control and increased cellular proliferation. We report a case of a 78-year-old man, a carrier of the germline NF1 Ala1224Gly/c.3671 C>G mutation, with ASXL1, ZRSR2 and TET2 mutation-positive blastic plasmacytoid dendritic cell neoplasm (BPDCN). Read More

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http://dx.doi.org/10.1007/s12185-019-02642-wDOI Listing
April 2019
1 Read

B-cell central nervous system lymphoma developing in a patient with cerebral meningioangiomatosis.

Radiol Case Rep 2019 May 25;14(5):538-543. Epub 2019 Feb 25.

Department of Advanced Biomedical Sciences, Neuroradiology Unit, University "Federico II", Via Pansini, 5, 80131 Naples, Italy.

Meningioangiomatosis is a rare congenital hamartomatous malformation of the leptomeninges that can also involve the adjacent cerebral tissue, sometime arising in association with neurofibromatosis. Here we report the case of a 55-year-old man with neuroradiological evidence of meningioangiomatosis, known to be a well-defined malformative-dysplastic lesion, preceding the onset of central nervous system B-cell lymphoma. We describe for the first time this unusual association, highlighting how meningioangiomatosis could accompany different pathologies more frequently than thought. Read More

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http://dx.doi.org/10.1016/j.radcr.2019.02.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6443910PMC
May 2019
1 Read

Solitary neurofibroma of the palate mimicking mucocele: A rare case report.

J Oral Maxillofac Pathol 2019 Feb;23(Suppl 1):23-26

Department of Oral and Maxillofacial Pathology, SRM Dental College and Hospital, Chennai, Tamil Nadu, India.

Neurofibroma is a benign, slow-growing, peripheral nerve neoplasm. It presents as a solitary tumor or component of neurofibromatosis (NF) and von Recklinghausen's disease. The occurrence of solitary neurofibromas in the oral cavity is less frequent, and those in the palate are reported in less numbers. Read More

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http://dx.doi.org/10.4103/jomfp.JOMFP_196_18DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6421926PMC
February 2019
1 Read

Simultaneous diagnosis of unilateral retinoblastoma and contralateral optic pathway glioma in a child with neurofibromatosis type 1.

Pediatr Hematol Oncol 2019 Apr 9:1-4. Epub 2019 Apr 9.

e Department of Ophthalmology , The Calcutta Medical Research Institute , Kolkata , India.

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http://dx.doi.org/10.1080/08880018.2019.1591550DOI Listing
April 2019
1 Read

An update on the central nervous system manifestations of neurofibromatosis type 1.

Acta Neuropathol 2019 Apr 8. Epub 2019 Apr 8.

Department of Pathology, Johns Hopkins University School of Medicine, Sheikh Zayed Tower, Room M2101, 1800 Orleans Street, Baltimore, MD, 21231, USA.

Neurofibromatosis 1 (NF1) is an autosomal dominant genetic disorder that presents with variable phenotypes as a result of mutations in the neurofibromatosis type 1 (NF1) gene and subsequently, abnormal function of the protein product, neurofibromin. Patients with NF1 are at increased risk for central nervous system (CNS) manifestations including structural, functional, and neoplastic disease. The mechanisms underlying the varied manifestations of NF1 are incompletely understood, but the loss of functional neurofibromin, resulting in sustained activation of the oncoprotein RAS, is responsible for tumorigenesis throughout the body, including the CNS. Read More

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http://dx.doi.org/10.1007/s00401-019-02002-2DOI Listing
April 2019
1 Read

Increased breast cancer risk in women with neurofibromatosis type 1: a meta-analysis and systematic review of the literature.

Hered Cancer Clin Pract 2019 25;17:12. Epub 2019 Mar 25.

1Division of Surgical Oncology, Department of Surgery, The Ohio State University Wexner Medical Center, Columbus, OH 43210 USA.

Background: Neurofibromatosis type 1 (NF1) is a cancer predisposing syndrome. Studies suggest that women < 50 years old (y.o. Read More

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https://hccpjournal.biomedcentral.com/articles/10.1186/s1305
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http://dx.doi.org/10.1186/s13053-019-0110-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6434896PMC
March 2019
6 Reads

Pharmacoresistant seizures in neurofibromatosis type 1 related to hippocampal sclerosis: Three case presentation and review.

J Clin Neurosci 2019 Apr 5. Epub 2019 Apr 5.

Department of Neurology, School of Medicine, Hacettepe University Hospitals, Ankara, Turkey. Electronic address:

Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited disorder, with an estimated prevalence of 1 in 3000-4000 people. Seizures occur 4-7% of individuals with NF1, mostly due to associated brain tumors or cortical malformations. Hippocampal sclerosis (HS) in the patients with NF1 has been reported very rarely and only 15 patients were found in review of English literature. Read More

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http://dx.doi.org/10.1016/j.jocn.2019.03.055DOI Listing
April 2019
1 Read

Epilepsy in Rett syndrome: can seizures play an encephalopathic effect in this disorder?

Minerva Pediatr 2019 Apr 5. Epub 2019 Apr 5.

Department of Medical and Translational Sciences, Child Neuropsychiatry, "Federico II" University of Naples, Naples, Italy.

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http://dx.doi.org/10.23736/S0026-4946.19.05309-XDOI Listing

[Sturge Weber type 3 presenting with occipital epileptic seizure: case report].

Ideggyogy Sz 2019 Mar;72(3-4):131-133

Bakirkoy Prof. Dr. Mazhar Osman Education and Research Hospital For Neuropsychiatry, Neurology Clinic, İstanbul, Turkey.

Sturge Weber syndrome is the third most common neurocutaneous syndrome after neurofibromatosis and tuberous sclerosis. Three distinct types were identified. Type 3 with leptomeningeal involvement alone is the rarest among other types. Read More

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http://dx.doi.org/10.18071/isz.72.0131DOI Listing
March 2019
1 Read

Multiple burr holes surgery for the treatment of moya-moya disease and quasi moya-moya disease in children: preliminary surgical and imaging results.

World Neurosurg 2019 Apr 4. Epub 2019 Apr 4.

Department of Pediatric Neurosurgery Santobono-Pausilipon Children's Hospital, Naples, Italy.

Objective: Moyamoya disease (MMD) is characterized by a progressive spontaneous occlusion of distal internal carotid arteries (ICAs) and its main branches . It's necessary to promptly diagnose and treat this condition, especially in children, because of the high risk of stroke and consequent severe disability. In our paper, we examine the role of multiple burr holes surgery (MBHS) in the treatment of pediatric patients with MMD and quasi MMD and the role of perfusion MRI for the surgical indication and during the follow-up. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S18788750193096
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http://dx.doi.org/10.1016/j.wneu.2019.03.282DOI Listing
April 2019
6 Reads

Rasopathies case report: concurrence of two pathogenic variations de novo in NF1 and KRAS genes in a patient.

BMC Pediatr 2019 Apr 5;19(1):92. Epub 2019 Apr 5.

Neonatology Department, Miguel Servet Children's Hospital, Isabel la Católica Avenue 1-3, 50009, Zaragoza, Spain.

Background: Rasopathies are a group of genetic malformative syndromes including neurofibromatosis 1, Noonan, LEOPARD, Costello, cardio-facio-cutaneous, Legius, and capillary malformation-arteriovenous malformation syndromes.

Case Presentation: We present a female newborn that consulted at the emergency department with refusal to eat and sleepiness. A shortened femur, thickened nucal fold and suspect for agenesis of the corpus callosum were observed in prenatal ultrasound. Read More

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http://dx.doi.org/10.1186/s12887-019-1463-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6449997PMC
April 2019
1 Read

Non-odontogenic Intraosseous Radiolucent Lesions of the Mandibular Body Are Rare Findings on Panoramic Views of Patients With Neurofibromatosis Type 1.

Anticancer Res 2019 Apr;39(4):1971-1985

Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.

Background/aim: The purpose of the study was to investigate whether non-odontogenic intraosseous translucent lesions of mandibular body are depicted on radiographs of patients with neurofibromatosis type 1 (NF1).

Materials And Methods: The panoramic radiographs of 179 NF1 patients were analysed for translucent lesions of the mandibular body that were of intraosseous, non-odontogenic origin. The results were compared to findings obtained in panoramic radiographs of age- and sex-matched controls. Read More

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http://dx.doi.org/10.21873/anticanres.13308DOI Listing
April 2019
1 Read

Need for arthrodesis following facetectomy for spinal peripheral nerve sheath tumors: an institutional experience and review of the current literature.

J Neurosurg Spine 2019 04 5:1-11. Epub 2019 Apr 5.

Mayo Clinic Neuro-Informatics Laboratory, and

Objective: Spinal peripheral nerve sheath tumors (PNSTs) are a group of rare tumors originating from the nerve and its supporting structures. Standard surgical management typically entails laminectomy with or without facetectomy to gain adequate tumor exposure. Arthrodesis is occasionally performed to maintain spinal stability and mitigate the risk of postoperative deformity, pain, or neurological deficit. Read More

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http://dx.doi.org/10.3171/2019.1.SPINE181057DOI Listing
April 2019
1 Read

Left ventricular noncompaction and orthodromic atrioventricular tachycardia observed in a patient with neurofibromatosis type 1.

Oxf Med Case Reports 2019 Mar 29;2019(3):omz021. Epub 2019 Mar 29.

Electrophysiology Program, Penn State University Heart and Vascular Institute, Penn State University College of Medicine, The Milton S. Hershey Medical Center, Hershey, PA, USA.

Isolated left ventricular noncompaction (LVNC) was described for the first time in 1984. It is a rare congenital disease, characterized by prominent trabecular meshwork pattern and deep intertrabecular recesses, communicated with the left ventricular chamber. Clinical presentation varies from asymptomatic patients, to those developing supraventricular and ventricular arrhythmias, thromboembolism, heart failure and sudden cardiac death. Read More

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http://dx.doi.org/10.1093/omcr/omz021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6440266PMC
March 2019
1 Read

Psychological and psychiatric aspects of face transplantation: Lessons learned from the long-term follow-up of six patients.

J Psychosom Res 2019 Apr 11;119:42-49. Epub 2019 Feb 11.

Université Paris Descartes, Sorbonne Paris Cité, Faculté de Médecine, Paris, France; AP-HP, Hôpitaux Universitaires Paris Ouest, Service de Chirurgie Plastique, Reconstructrice et Esthétique, Paris, France; Institut Cochin, Inserm U1016, UMR-S 1016, CNRS UMR 8104, Génomique et épigénétique des tumeurs rares, Université Paris Descartes, Paris, France.

Since 2005, at least 38 face transplantations have been performed worldwide. Available recommendations on psychological management are based on isolated cases or small case series, either not focused on mental health or with a short follow-up. We propose herein a clinical commentary on psychological and psychiatric outcomes from the follow-up of a prospective single-center cohort of six patients over a period of 3. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S00223999183069
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http://dx.doi.org/10.1016/j.jpsychores.2019.02.006DOI Listing
April 2019
4 Reads

Correction of Complex Neurofibromatosis Orbital and Globe Malposition Using the Orbital Box Segmentation Osteotomy With Patient-Specific Internal Orbit Reconstruction.

J Craniofac Surg 2019 Mar 27. Epub 2019 Mar 27.

Department of Plastic and Reconstructive Surgery, Case Western Reserve University School of Medicine, Cleveland, OH.

Introduction: Correction of severe orbital and globe malposition from neurofibromatosis remains a significant clinical challenge. Current techniques including zygoma osteotomy, bone grafting, or placement of orbital implants do not adequately address aberrant anatomy, under-correct the deformity, and are prone to relapse. The authors have developed the orbital box segmentation osteotomy to reduce vertical orbital height and translocate the orbit and use patient-specific custom internal orbital titanium implants to close the cranio-orbital communication-reestablishing both the external orbital shape and internal orbital volume. Read More

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http://dx.doi.org/10.1097/SCS.0000000000005369DOI Listing
March 2019
1 Read

S100 and CD34 positive spindle cell tumor with prominent perivascular hyalinization and a novel NCOA4-RET fusion.

Genes Chromosomes Cancer 2019 Apr 2. Epub 2019 Apr 2.

Department of Pathology, Charles University, Faculty of Medicine in Pilsen, Pilsen, Czech Republic.

We report a case of a 35-year old male patient with a tumor located in the deep dermis on his forearm. The lesion was completely excised but recurred 4 years later. The patient showed no signs of neurofibromatosis type 1. Read More

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http://dx.doi.org/10.1002/gcc.22758DOI Listing
April 2019
7 Reads

[Surgical treatment of neurofibromatosis type I followed by retroperitoneal tumor (in Russian only)].

Khirurgiia (Mosk) 2019 (3):5-14

Vishnevsky National Medical Research Center of Surgery, Moscow, Russia.

Aim: To determine the optimal surgical approach in patients with abdominal and retroperitoneal manifestations of Recklinghausen's disease.

Material And Methods: There were 4 patients (3 women and 1 man) with neurofibromatosis type I who were treated at Vishnevsky National Medical Research Center of Surgery.

Results: There were 3 robot-assisted procedures: excision of retroperitoneal tumors (plexiform neurofibroma and schwannoma) in 2 cases and right adrenal pheochromocytoma in 1 patient. Read More

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http://www.mediasphera.ru/issues/khirurgiya-zhurnal-im-n-i-p
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http://dx.doi.org/10.17116/hirurgia20190315DOI Listing
January 2019
2 Reads

Malignant Peripheral Nerve Sheath Tumor: Treat or Not Treat?

Asian J Neurosurg 2019 Jan-Mar;14(1):283-285

Department of Neurosurgery, Hospital Raja Permaisuri Bainun, Ipoh, Perak, Malaysia.

Malignant peripheral nerve sheath tumors (MPNSTs) are uncommon, biologically aggressive soft tissue sarcomas of neural origin that poses tremendous challenges to effective therapy. MPNSTs are among the most challenging mesenchymal malignancies to treat with poor prognosis. They usually affect young and middle-aged adults, tend toward early metastasis, and often demonstrate resistance to chemotherapy. Read More

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http://www.asianjns.org/text.asp?2019/14/1/283/250018
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http://dx.doi.org/10.4103/ajns.AJNS_332_17DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6417322PMC
April 2019
4 Reads

Targeted inhibition of the dual specificity phosphatases DUSP1 and DUSP6 suppress MPNST growth via JNK.

Clin Cancer Res 2019 Apr 1. Epub 2019 Apr 1.

Division of Experimental Hematology and Cancer Biology, Cincinnati Children's Hospital Medical Center

Purpose: In Neurofibromatosis Type 1 (NF1) and in highly aggressive malignant peripheral nerve sheath tumors (MPNSTs), constitutively active RAS-GTP and increased MAPK signaling are important in tumorigenesis. Dual specificity phosphatases (DUSPs) are negative regulators of MAPK signaling that dephosphorylate p38, JNK and ERK in different settings. While often acting as tumor suppressors, DUSPs may also act as oncogenes, helping tumor cells adapt to high levels of MAPK signaling. Read More

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http://dx.doi.org/10.1158/1078-0432.CCR-18-3224DOI Listing
April 2019
1 Read
8.722 Impact Factor

Heat shock factor 1 (HSF1)-targeted anticancer therapeutics: overview of current preclinical progress.

Expert Opin Ther Targets 2019 Mar 31:1-9. Epub 2019 Mar 31.

a Department of Urology , Tokyo Medical and Dental University , Tokyo , Japan.

Introduction: The heat shock factor 1 (HSF1) plays a pivotal role in guarding proteome stability or proteostasis by induction of heat shock proteins (HSPs). While HSF1 remains mostly latent in unstressed normal cells, it is constitutively active in malignant cells, rendering them addicted to HSF1 for their growth and survival. HSF1 affects tumorigenesis, cancer progression, and treatment resistance by preserving cancer proteostasis, thus suggesting disruption of HSF1 activity as a potential anticancer strategy. Read More

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http://dx.doi.org/10.1080/14728222.2019.1602119DOI Listing
March 2019
3 Reads

Auditory Brainstem Implantation: An Overview.

J Neurol Surg B Skull Base 2019 Apr 14;80(2):203-208. Epub 2019 Feb 14.

Department of Otolaryngology-Head and Neck Surgery, New York University School of Medicine, New York, New York, United States.

An auditory brainstem implant (ABI) is a surgically implanted central neural auditory prosthesis for the treatment of profound sensorineural hearing loss in children and adults who are not cochlear implant candidates due to a lack of anatomically intact cochlear nerves or implantable cochleae. The device consists of a multielectrode surface array which is placed within the lateral recess of the fourth ventricle along the brainstem and directly stimulates the cochlear nucleus, thereby bypassing the peripheral auditory system. In the United States, candidacy criteria for ABI include deaf patients with neurofibromatosis type 2 (NF2) who are 12 years or older undergoing first- or second-side vestibular schwannoma resection. Read More

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http://dx.doi.org/10.1055/s-0039-1679891DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6438789PMC
April 2019
2 Reads

Effectiveness of oral propranolol in a patient with neurofibromatosis type 1 and infantile hemangiomas.

G Ital Dermatol Venereol 2019 Mar 29. Epub 2019 Mar 29.

Department of Dermatology and Venereology, "Sapienza" University of Rome, Policlinico Umberto I, Rome, Italy.

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http://dx.doi.org/10.23736/S0392-0488.19.06179-0DOI Listing
March 2019
1 Read

Correction: Educational delay and attainment in persons with neurofibromatosis 1 in Denmark.

Eur J Hum Genet 2019 Mar 22. Epub 2019 Mar 22.

Survivorship Unit, Danish Cancer Society Research Center, Copenhagen, Denmark.

Since the publication of the article, the authors noticed that 'NFI cohort' and 'NFI-free cohort' columns in the 'Autism and the 'Autism/ADHD' rows had been erroneously interchanged in Table 3. This has now been updated in the HTML and PDF of the original article. Read More

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http://dx.doi.org/10.1038/s41431-019-0378-5DOI Listing
March 2019
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Neurofibromatosis type I with malignant peripheral nerve sheath tumors in the upper arm: A case report.

Medicine (Baltimore) 2019 Mar;98(13):e15017

Department of Electrical Diagnosis, the First Bethune Hospital of Jilin University, China.

Rationale: Malignant peripheral nerve sheath tumor occurring in the context of neurofibromatosis type I (NF1) is relatively rare. Herein, we report a case of NF1 with malignant peripheral nerve sheath tumor in the upper arm.

Patient Concerns: A 24-year-old man presented with a mass in the medial part of the left upper arm that had been present for more than 20 years. Read More

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http://dx.doi.org/10.1097/MD.0000000000015017DOI Listing
March 2019
1 Read

Incidence of and Risk Factors for Histologically Confirmed Solid Benign Tumors Among Long-term Survivors of Childhood Cancer.

JAMA Oncol 2019 Mar 28. Epub 2019 Mar 28.

Department of Pediatric Oncology, Emma Children's Hospital, Amsterdam University Medical Center (UMC), University of Amsterdam, Amsterdam, the Netherlands.

Importance: Survivors of childhood cancer (CCSs) face risk of developing subsequent tumors. Solid benign tumors may be cancer precursors; benign tumors and cancers may share etiologic factors. However, comprehensive data on the risk for solid benign tumors are lacking. Read More

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http://dx.doi.org/10.1001/jamaoncol.2018.6862DOI Listing
March 2019
4 Reads

Fetal cardiomyopathy in neurofibromatosis type I: Novel phenotype and review of the literature.

Am J Med Genet A 2019 Mar 28. Epub 2019 Mar 28.

Division of Human Genetics, Department of Pediatrics, The Children's Hospital of Philadelphia, Philadelphia, Pennsylvania.

Neurofibromatosis type I (NF1) is a relatively common genetic disorder characterized by neurocutaneous lesions, neurofibromas, skeletal anomalies, iris hamartomas, and predisposition to other tumors. NF1 results from heterozygous loss-of-function mutations in neurofibromin (NF1), and diagnosis is most often made using clinical diagnostic criteria. Cardiac manifestations of NF1 include congenital heart disease (such as valvar pulmonary stenosis), left ventricular hypertrophy, and adult-onset pulmonary hypertension. Read More

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http://dx.doi.org/10.1002/ajmg.a.61123DOI Listing
March 2019
1 Read

Gastrointestinal Stromal Tumor in a Patient with Neurofibromatosis Type 1 that Was Successfully Treated with Regorafenib.

Intern Med 2019 Mar 28. Epub 2019 Mar 28.

Department of Medical Oncology, Sapporo Medical University, Japan.

An unconscious 55-year-old man with a history of neurofibromatosis type 1 (NF1) was transported to the emergency department and was diagnosed with acute renal failure owing to a large bladder tumor. A submucosal tumor was also identified in the duodenum. The patient was diagnosed with a primary gastrointestinal stromal tumor (GIST) of the bladder and duodenum. Read More

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http://dx.doi.org/10.2169/internalmedicine.2321-18DOI Listing
March 2019
2 Reads

Dysregulation of CRMP2 Post-Translational Modifications Drive Its Pathological Functions.

Mol Neurobiol 2019 Mar 27. Epub 2019 Mar 27.

Department of Pharmacology, College of Medicine, University of Arizona, 1501 North Campbell Drive, P.O. Box 245050, Tucson, AZ, 85724, USA.

Collapsin response mediator proteins (CRMPs) are a family of ubiquitously expressed, homologous phosphoproteins best known for coordinating cytoskeletal formation and regulating cellular division, migration, polarity, and synaptic connection. CRMP2, the most studied of the five family members, is best known for its affinity for tubulin heterodimers and function in regulating the microtubule network. These functions are tightly regulated by post-translational modifications including phosphorylation, SUMOylation, oxidation, and O-GlcNAcylation. Read More

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http://dx.doi.org/10.1007/s12035-019-1568-4DOI Listing
March 2019
1 Read
5.137 Impact Factor

Cervical Lymph Node Schwannoma-An Unexpected Diagnosis.

Clin Pathol 2019 Jan-Dec;12:2632010X19829239. Epub 2019 Feb 27.

Department of Endocrinology, Diabetes and Metabolism, Santa Maria Hospital, Lisbon, Portugal.

Introduction: Schwannomas-Schwann cells-originating tumors-may develop in many locations. However, primary schwannomas arising within lymph nodes are extremely rare, with only a few cases described to this date in the English literature. For the intranodal location, most of the cases are described in the abdominal cavity. Read More

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http://dx.doi.org/10.1177/2632010X19829239DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6429639PMC
February 2019
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Oral plexiform schwannoma: A case report and relevant immunohistochemical investigation.

SAGE Open Med Case Rep 2019 19;7:2050313X19838184. Epub 2019 Mar 19.

Pôle d'Odontologie, Hôpital Maison Blanche, Centre Hospitalier Universitaire Reims, Reims, France.

Schwannomas are benign peripheral nerve sheath tumors originating from the Schwann cells. Most schwannomas in the head and neck region are solitary; however, multiple schwannomas affecting one or more nerves suggest a possible association with neurofibromatosis type 2 and schwannomatosis. Plexiform schwannoma is a rare variant of conventional schwannoma that is characterized by intraneural multinodular growth. Read More

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http://dx.doi.org/10.1177/2050313X19838184DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6425529PMC
March 2019
2 Reads

First International Conference on RASopathies and Neurofibromatoses in Asia: Identification and advances of new therapeutics.

Am J Med Genet A 2019 Mar 25. Epub 2019 Mar 25.

Institute of Medical Genetics, Cardiff University, Cardiff, United Kingdom.

The neurofibromatoses, which include neurofibromatosis type I (NF1), neurofibromatosis type II (NF2), and schwannomatosis, are a group of syndromes characterized by tumor growth in the nervous system. The RASopathies are a group of syndromes caused by germline mutations in genes that encode components of the RAS/mitogen-activated protein kinase (MAPK) pathway. The RASopathies include NF1, Noonan syndrome, Noonan syndrome with multiple lentigines, Costello syndrome, cardio-facio-cutaneous syndrome, Legius syndrome, capillary malformation arterio-venous malformation syndrome, and SYNGAP1 autism. Read More

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http://dx.doi.org/10.1002/ajmg.a.61125DOI Listing
March 2019
1 Read
2.159 Impact Factor