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    11295 results match your criteria Neurofibromatosis Type 1

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    Massive spontaneous hemothorax in patients with neurofibromatosis type 1.
    Emergencias 2018 Jun;30(3):190-193
    Servicio Cirugía General y Aparato Digestivo. Hospital Clínico Universitario Virgen de la Arrixaca, El Palmar, Murcia, España.
    Objectives: Spontaneous hemothorax is an uncommon event that can occur in patients with a history of neurofibromatosis type 1 because of intrathoracic vascular malformations that predispose to aneurysms or bleeding from thoracic tumors. Only 53 cases of this rare association have been reported in the literature since 1975. We described 2 cases: one patient was a 73-year-old man with a right hemothorax secondary to an intercostal neurofibroma; the other was a 35-year-old woman with a left hemothorax secondary to a neurofibroma that compromised the internal mammary artery. Read More

    Usefulness of intrapartum magnetic resonance imaging for a parturient with neurofibromatosis type 1 during induction of labor for preeclampsia.
    Proc (Bayl Univ Med Cent) 2018 Jan 10;31(1):92-93. Epub 2018 Jan 10.
    Department of Anesthesiology, Scott & White Medical Center-Temple, Temple, Texas.
    A 22-year-old woman, G3P0 at 31 weeks, 1 day gestational age, was admitted to the labor and delivery unit for induction of labor (IOL) due to preeclampsia with severe features. Her medical history included neurofibromatosis type 1 (NF-1) and systemic lupus erythematosus with pericarditis and pericardial effusion. When labor analgesia was considered, the concern for an undiagnosed spinal neurofibroma and attendant sequelae was deliberated. Read More

    Serial MRIs provide novel insight into natural history of optic pathway gliomas in patients with neurofibromatosis 1.
    Orphanet J Rare Dis 2018 Apr 23;13(1):62. Epub 2018 Apr 23.
    Department of Medical Genetics, BC Children's Hospital, University of British Columbia, 4480 Oak Street, Vancouver, Canada.
    Background: Optic pathway gliomas (OPGs) are present in 20% of children with neurofibromatosis 1 (NF1) but are less frequently observed in adults. Our goal was to determine the natural history of OPGs in children and adults with NF1.

    Results: We analyzed the features of OPGs and other intracranial lesions on 1775 head MRI scans of 562 unselected adults and children with NF1 collected between 2003 and 2015. Read More

    Clinical and molecular characterization of neurofibromatosis in southern Brazil.
    Expert Rev Mol Diagn 2018 Apr 24. Epub 2018 Apr 24.
    a Laboratório de Medicina Genômica - Centro de Pesquisa Experimental - Hospital de Clínicas de Porto Alegre , Porto Alegre , Rio Grande do Sul , Brazil .
    Objectives: Neurofibromatoses (type 1: NF1; type 2: NF2) are autosomal dominant tumor predisposition syndromes mostly caused by loss-of-function mutations in the tumor suppressor genes NF1 and NF2, respectively. Genotyping is important for correct diagnosis of these diseases. The authors aimed to characterize NF1 and NF2 variants in patients from Southern Brazil. Read More

    Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis: Impact of Family History.
    J Pediatr Hematol Oncol 2018 Apr 20. Epub 2018 Apr 20.
    Pediatric Hematology/Oncology and Marrow and Blood Cell Transplantation.
    Objective: The main objective of this study was to determine if family history of malignant peripheral nerve sheath tumor (MPNST) increases risk of developing an MPNST in patients with neurofibromatosis-1 (NF-1).

    Materials And Methods: Individuals with NF-1 registered with the Children's Tumor Foundation's Neurofibromatosis Registry were emailed an anonymous 15-minute survey with regard to personal and family history of NF-1, MPNST, ages of onset, and symptomatology. Participation was voluntary and information was self-reported. Read More

    Biliary Rhabdomyosarcoma in an Infant Male With Neurofibromatosis Type 1.
    J Pediatr Hematol Oncol 2018 Apr 20. Epub 2018 Apr 20.
    Departments of Pediatrics, Division of Pediatric Hematology-Oncology.
    Different types of malignancies can be seen in patients with neurofibromatosis type 1 (NF-1). Herein we present a rare combination of NF-1 and biliary rhabdomyosarcoma in a male infant. An 11-month-old boy, who was recently diagnosed with NF-1, presented to the outpatient clinic with a 3-month history of prolonged jaundice, and failure to thrive. Read More

    Communicating hydrocephalus and coexisting nonenhancing tumor: An ominous sign for patients with neurofibromatosis type 1?
    Radiol Case Rep 2018 Jun 18;13(3):693-696. Epub 2018 Apr 18.
    Department of Neurological Surgery, Juntendo University Urayasu Hospital, 2-1-1 Tomioka, Urayasu, Chiba, 279-0021, Japan.
    A 26-year-old woman with familial neurofibromatosis type 1 sustained headache that worsened for 1 month. Neuroimaging revealed a mild ventriculomegaly and nonenhancing lesion in the pons. In spite of repeated cerebrospinal fluid examinations and magnetic resonance imaging, the etiology was not determined. Read More

    2016 Children's Tumor Foundation conference on neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.
    Am J Med Genet A 2018 May;176(5):1258-1269
    Hereditary Cancer Group, The Institute for Health Science Research Germans Trias i Pujol (IGTP)-PMPPC, Barcelona, Spain.
    Organized and hosted by the Children's Tumor Foundation (CTF), the Neurofibromatosis (NF) conference is the premier annual gathering for clinicians and researchers interested in neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN). The 2016 edition constituted a blend of clinical and basic aspects of NF research that helped in clarifying different advances in the field. The incorporation of next generation sequencing is changing the way genetic diagnostics is performed for NF and related disorders, providing solutions to problems like genetic heterogeneity, overlapping clinical manifestations, or the presence of mosaicism. Read More

    Worries and needs of adults and parents of adults with neurofibromatosis type 1.
    Am J Med Genet A 2018 May;176(5):1150-1160
    ENCORE Expertise Center for Neurodevelopmental Disorders, Erasmus Medical Center, Rotterdam, The Netherlands.
    Neurofibromatosis type 1 (NF1) is a neurocutaneous disorder associated with lifelong tumor growth propensity and neurocognitive impairments. Although follow-up of adults with NF1 often focuses on tumor growth, follow-up of cognitive or social problems and other NF1-related comorbidity is often not a part of standardized care. In order to provide optimal care services for these patients, we explored the care needs of adults with NF1. Read More

    Clinical characteristics and NF1 gene mutation analysis of three successive generations in three different Indian families with neurofibromatosis type 1 and peripheral nerve sheath tumours.
    J Clin Neurosci 2018 Apr 18. Epub 2018 Apr 18.
    Department of Biotechnology, Sri Venkateswara Institute of Medical Sciences, Tirupati 517507, Andhra Pradesh, India. Electronic address:
    Neurofibromatosis type 1 (NF1) is a rare autosomal-dominant disorder caused by inactivation of NF1 tumour suppressor gene, which associates in the development of peripheral nerve tumours. NF1 is an important regulator of GAP and RAS proteins, mutations in NF1 results in the impairment in this function causing specific osseous lesions in any organ of the human body. In the present study, we investigated the clinical characteristics and NF1 gene mutation analysis of 3 unrelated Indian families with neurofibromatosis type 1. Read More

    Accurate Classification of Gene Variants in 84 Italian Patients with Neurofibromatosis Type 1.
    Genes (Basel) 2018 Apr 17;9(4). Epub 2018 Apr 17.
    Laboratorio di Genetica Medica, Dipartimento di Scienze Biomediche e Oncologia Umana, Università degli Studi di Bari Aldo Moro, 70124 Bari, Italy.
    Neurofibromatosis type 1 (NF1) is one of the most common autosomal dominant genetic diseases. It is caused by mutations in the gene encoding for the large protein, neurofibromin. Genetic testing of is cumbersome because 50% of cases are sporadic, and there are no mutation hot spots. Read More

    Decayed, missing, and restored teeth in patients with Neurofibromatosis Type 1.
    J Clin Exp Dent 2018 Feb 1;10(2):e107-e115. Epub 2018 Feb 1.
    Senior registrar, Department of Prosthodontics, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Background: NF1 is a relatively frequently occurring autosomal dominant inherited disease. There are conflicting reports about oral health status in NF1. The aim of this study was to analyze the dental status of patients with neurofibromatosis type 1 (NF1). Read More

    Restoring functional neurofibromin by protein transduction.
    Sci Rep 2018 Apr 18;8(1):6171. Epub 2018 Apr 18.
    Institute of Human Genetics, University of Ulm, Ulm, Germany.
    In Neurofibromatosis 1 (NF1) germ line loss of function mutations result in reduction of cellular neurofibromin content (NF1+/-, NF1 haploinsufficiency). The Ras-GAP neurofibromin is a very large cytoplasmic protein (2818 AA, 319 kDa) involved in the RAS-MAPK pathway. Aside from regulation of proliferation, it is involved in mechanosensoric of cells. Read More

    Preliteracy impairments in children with neurofibromatosis type 1.
    Dev Med Child Neurol 2018 Apr 18. Epub 2018 Apr 18.
    Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, NSW, Australia.
    Aim: This cross-sectional study aimed to examine the preliteracy abilities of young children with neurofibromatosis type 1 (NF1) and to identify which of these abilities best predicted conventional literacy (spelling).

    Method: Forty-two children with NF1 (23 males, 19 females; mean age [SD] 5y 6mo [6mo]) were compared with 32 unaffected children (15 males, 17 females; mean age [SD] 5y 4mo [6mo]). All children completed a comprehensive cognitive assessment including measures of phonological processing (phonological awareness, phonological memory, rapid automatic naming) and letter-sound knowledge. Read More

    Emerging therapeutic targets for neurofibromatosis type 1.
    Expert Opin Ther Targets 2018 Apr 18. Epub 2018 Apr 18.
    b Division of Cancer and Genetics , Cardiff University , Cardiff CF14 4XN UK.
    Introduction: Neurofibromatosis type 1 (NF1) is an autosomal dominantly inherited tumor predisposition syndrome with an incidence of one in 3000-4000 individuals with no currently effective therapies. The NF1 gene on chromosome 17 encodes neurofibromin, which functions as a negative regulator of RAS. NF1 is a chronic multi-system disorder affecting many different tissues. Read More

    Tranilast inhibits the expression of genes related to epithelial-mesenchymal transition and angiogenesis in neurofibromin-deficient cells.
    Sci Rep 2018 Apr 17;8(1):6069. Epub 2018 Apr 17.
    Division of Gene Regulation, Institute for Advanced Medical Research, Keio University School of Medicine, Tokyo, 160-8582, Japan.
    Neurofibromatosis type 1 (NF1) is caused by germline mutations in the NF1 gene and is characterized by café au lait spots and benign tumours known as neurofibromas. NF1 encodes the tumour suppressor protein neurofibromin, which negatively regulates the small GTPase Ras, with the constitutive activation of Ras signalling resulting from NF1 mutations being thought to underlie neurofibroma development. We previously showed that knockdown of neurofibromin triggers epithelial-mesenchymal transition (EMT) signalling and that such signalling is activated in NF1-associated neurofibromas. Read More

    Exploiting mitochondrial and metabolic homeostasis as a vulnerability in NF1 deficient cells.
    Oncotarget 2018 Mar 18;9(22):15860-15875. Epub 2017 Jul 18.
    Department of Molecular and Systems Biology, Geisel School of Medicine, Dartmouth College, Hanover, NH 03755, USA.
    Neurofibromatosis type 1 is a disease caused by mutation of neurofibromin 1 (), loss of which results in hyperactive Ras signaling and a concomitant increase in cell proliferation and survival. Patients with neurofibromatosis type 1 frequently develop tumors such as plexiform neurofibromas and malignant peripheral nerve sheath tumors. Mutation of or loss of the NF1 protein is also observed in glioblastoma, lung adenocarcinoma, and ovarian cancer among other sporadic cancers. Read More

    RASopathies are associated with a distinct personality profile.
    Am J Med Genet B Neuropsychiatr Genet 2018 Apr 16. Epub 2018 Apr 16.
    Department of Psychiatry and Weill Institute for Neurosciences, University of California San Francisco, San Francisco, California.
    Personality is a complex, yet partially heritable, trait. Although some Mendelian diseases like Williams-Beuren syndrome are associated with a particular personality profile, studies have failed to assign the personality features to a single gene or pathway. As a family of monogenic disorders caused by mutations in the Ras/MAPK pathway known to influence social behavior, RASopathies are likely to provide insight into the genetic basis of personality. Read More

    CRMP2-Neurofibromin Interface Drives NF1-related Pain.
    Neuroscience 2018 Apr 12. Epub 2018 Apr 12.
    Department of Pharmacology, College of Medicine, University of Arizona, Tucson, AZ, USA; Department of Anesthesiology, College of Medicine, University of Arizona, Tucson, AZ, USA; Neuroscience Graduate Interdisciplinary Program, College of Medicine, University of Arizona, Tucson, AZ, USA. Electronic address:
    An understudied symptom of the genetic disorder Neurofibromatosis type 1 (NF1) is chronic idiopathic pain. We used targeted editing of Nf1 in rats to provide direct evidence of a causal relationship between neurofibromin, the protein product of the Nf1 gene, and pain responses. Our study data identified a protein-interaction network with collapsin response meditator protein 2 (CRMP2) as a node and neurofibromin, syntaxin 1A, and the N-type voltage-gated calcium (CaV2. Read More

    Possible modifier genes in the variation of neurofibromatosis type 1 clinical phenotypes.
    J Neurogenet 2018 Apr 12:1-13. Epub 2018 Apr 12.
    a Faculty of Medicine , TOBB University of Economics and Technology , Ankara , Turkey.
    Neurofibromatosis type 1 (NF1) is the most common neurogenetic disorder worldwide, caused by mutations in the (NF1) gene. Although NF1 is a single-gene disorder with autosomal-dominant inheritance, its clinical expression is highly variable and unpredictable. NF1 patients have the highest known mutation rate among all human disorders, with no clear genotype-phenotype correlations. Read More

    Benign-appearing Intraspinal Malignant Peripheral Nerve Sheath Tumors: Treatments and Outcomes of 14 Consecutive Patients.
    Turk Neurosurg 2018 Mar 19. Epub 2018 Mar 19.
    Naval Medical University, Changzheng Hospital, Department of Orthopaedic Oncology, Shanghai, China.
    Aim: To investigate the clinical characteristics and prognostic factors that may influence outcomes of patients undergoing benign appearing intra-spinal Malignant Peripheral Nerve Sheath Tumors (MPNSTs).

    Material And Methods: This study included a total of 14 consecutive patients who were diagnosed benign intra-spinal tumors firstly and confirmed as intra-spinal MPNSTs by pathology. The univariate analyses of various clinical factors were performed to identify variables that could predict prognosis. Read More

    Athymic mice reveal a requirement for T-cell-microglia interactions in establishing a microenvironment supportive of low-grade glioma growth.
    Genes Dev 2018 Apr 9;32(7-8):491-496. Epub 2018 Apr 9.
    Department of Neurology, Washington University School of Medicine, St. Louis, Missouri 63110, USA.
    Pediatric low-grade gliomas (LGGs) frequently do not engraft in immunocompromised mice, limiting their use as an experimental platform. In contrast, murine Neurofibromatosis-1 () optic LGG stem cells (o-GSCs) form glioma-like lesions in wild-type, but not athymic, mice following transplantation. Here, we show that the inability of athymic mice to support o-GSC engraftment results from impaired microglia/macrophage function, including reduced expression of Ccr2 and Ccl5, both of which are required for o-GSC engraftment and optic glioma growth. Read More

    Attention Deficit Hyperactivity Disorder in Neurofibromatosis Type 1: Evaluation with a Continuous Performance Test.
    J Clin Neurol 2018 Apr;14(2):153-157
    Neurofibromatosis Clinic, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
    Background And Purpose: The objective of this study was to determine if the MOXO visual- and vocal-distractors-based continuous performance test distinguishes patients with attention deficit hyperactivity disorder (ADHD) and neurofibromatosis type 1 (NF1) from those without NF1.

    Methods: Thirty-five patients (16 males; mean age 9.91 years) attending a multidisciplinary NF1 clinic completed the MOXO test. Read More

    Subarachnoid Block a Safe Choice for Cesarean Section in Neurofibromatosis Patient with Severe Kyphoscoliosis.
    Anesth Essays Res 2018 Jan-Mar;12(1):273-275
    Department of Anesthesiology and Reanimation, Ümraniye Research and Health Sciences University, Istanbul, Turkey.
    Neurofibromatosis type 1 (NF1) is an autosomal-dominant neuroectodermal hereditary disorder, in which spinal skeletal deformities are one of the manifestations. Pectus carinatum, temporomandibular joint dysfunction, and kyphoscoliosis can be seen with this genetic disorder which can lead to cardiorespiratory system problems and can cause difficulty in airway management. We present the anesthetic management of a NF1 patient with a sharp thoracolumbar dystrophic kyphoscoliosis who have been posted for emergency cesarean section as a result of fetal distress. Read More

    Concurrent primary hyperparathyroidism and pheochromocytoma in a Chinese lady with neurofibromatosis type 1.
    Endocrinol Diabetes Metab Case Rep 2018 28;2018. Epub 2018 Mar 28.
    Department of Medicine and Geriatrics, Caritas Medical Centre, Shamshuipo, Kowloon, Hong Kong SAR.
    We report a case of elderly Chinese lady with neurofibromatosis type-1 presenting with longstanding palpitation, paroxysmal hypertension and osteoporosis. Biochemical testing showed mild hypercalcaemia with non-suppressed parathyroid hormone level suggestive of primary hyperparathyroidism, and mildly elevated urinary fractionated normetanephrine and plasma-free normetanephrine pointing to a catecholamine-secreting pheochromocytoma/paraganglioma. Further scintigraphic investigation revealed evidence of a solitary parathyroid adenoma causing primary hyperparathyroidism and a left pheochromocytoma. Read More

    Clinical and molecular characterization of 112 single-center patients with Neurofibromatosis type 1.
    Ital J Pediatr 2018 Apr 4;44(1):45. Epub 2018 Apr 4.
    Department of Sciences for Health Promotion and Mother and Child Care "G. D'Alessandro", University of Palermo, Via A. Giordano 3, 90127, Palermo, Italy.
    Background: The aim of this retrospective study was to define clinical and molecular characteristics of a large sample of neurofibromatosis type 1 (NF1) patients, as well as to evaluate mutational spectrum and genotype-phenotype correlation. NF1 is a relatively common neurogenetic disorder (1:2500-1:3000 individuals). It is caused by mutations of the NF1 gene on chromosome 17ql1. Read More

    Intracranial malignant peripheral nerve sheath tumor variant: an unusual neurovascular phenotype sarcoma case invading through the petrous bone.
    Childs Nerv Syst 2018 Apr 3. Epub 2018 Apr 3.
    Department of Neurosurgery, Pennsylvania State University College of Medicine, Hershey, PA, 17033, USA.
    Introduction: Intracranial malignant peripheral nerve sheath tumor (MPNST) is exceedingly rare. Previously reported cases of intracranial MPNST have been associated with development within a prominent cranial nerve.

    Methods: This is the first report of an MPNST with both nerve sheath and vascular phenotype that follows the neurovascular bundle, without arising in a major cranial nerve or in the setting of neurofibromatosis type 1 (NF1). Read More

    Non-invasive prenatal diagnosis of paternally inherited disorders from maternal plasma: detection of NF1 and CFTR mutations using droplet digital PCR.
    Clin Chem Lab Med 2018 Apr;56(5):728-738
    Service de Génétique et Biologie Moléculaires, HUPC Hôpital Cochin, 27 rue du Faubourg Saint Jacques, 75014 Paris, France, Phone: 00 33 1 58 41 16 22, Fax: 00 33 1 58 41 15 80.
    Background: To limit risks of miscarriages associated with invasive procedures of current prenatal diagnosis practice, we aim to develop a personalized medicine-based protocol for non-invasive prenatal diagnosis (NIPD) of monogenic disorders relying on the detection of paternally inherited mutations in maternal blood using droplet digital PCR (ddPCR).

    Methods: This study included four couples at risk of transmitting paternal neurofibromatosis type 1 (NF1) mutations and four couples at risk of transmitting compound heterozygous CFTR mutations. NIPD was performed between 8 and 15 weeks of gestation, in parallel to conventional invasive diagnosis. Read More

    Pathophysiology and management of glaucoma associated with phakomatoses.
    J Neurosci Res 2018 Apr 1. Epub 2018 Apr 1.
    Illinois Eye and Ear Infirmary, Department of Ophthalmology and Visual Sciences, University of Illinois at Chicago, Chicago, Illinois.
    The phakomatoses, encephalotrigeminal angiomatosis (ETA; Sturge-Weber Syndrome), neurofibromatosis type 1 (NF1 or von Recklinghausen disease), Von Hippel-Lindau (VHL) disease, tuberous sclerosis (TSC), oculodermal melanocytosis (ODM), and phakomatosis pigmentovascularis are a group of neurocutaneous disorders that have characteristic systemic and ocular manifestations. Through many different mechanisms, they may cause glaucomatous damage of the optic nerve and subsequent vision loss varying from mild to severe. Glaucoma commonly affects patients with ETA (43-72%), orbito-facial NF1 (23-50%), and ODM (10%). Read More

    [Neurofibromatosis as a cause of breathlessness].
    Rev Mal Respir 2018 Mar 27. Epub 2018 Mar 27.
    Clinique des bronches, allergies et du sommeil, Assistance publique-Hôpitaux de Marseille, 13015 Marseille, France; Inserm U1067, CNRS UMR 7333, Aix-Marseille université, 13015 Marseille, France.
    Introduction: Type 1 neurofibromatosis, also called "Recklinghausen's disease" is among the most frequent autosomal dominant genetic disorders, with an incidence of 1:3500 births. It mainly affects the skin and peripheral nervous system. However, in its less frequent manifestations, are tumors such as meningocele and skeletal dysplasias leading to severe clinical presentation. Read More

    The Effectiveness of a Hospital-Based School Liaison Program: A Comparative Study of Parental Perception of School Supports for Children With Pediatric Cancer and Neurofibromatosis Type 1.
    J Pediatr Oncol Nurs 2018 Mar 1:1043454218765140. Epub 2018 Mar 1.
    1 Dana-Farber Cancer Institute, Boston, MA, USA.
    Childhood survivors of central nervous system (CNS) cancers (defined as cancers whose diagnosis or treatment affect the CNS) are at increased risk for educational related difficulties, as are children affected by neurofibromatosis type 1. This study evaluated the effectiveness of and satisfaction with a model of psychoeducation, consultation, and advocacy provided by a School Liaison Program (SLP) for families and schools of children with CNS-involved cancers compared with a control group of parents of children with a diagnosis of neurofibromatosis type 1 who did not receive school-based services. Results indicated significant between-group differences in parents' belief that their child is meeting academic potential, with parents who received SLP services reporting greater satisfaction with their child's progress, better understanding of their child's learning needs, and an increased ability to access school supports. Read More

    Periapical Cemento-osseous Dysplasia Is Rarely Diagnosed on Orthopantomograms of Patients with Neurofibromatosis Type 1 and Is Not a Gender-specific Feature of the Disease.
    Anticancer Res 2018 04;38(4):2277-2284
    Department of Oral and Craniomaxillofacial Surgery, Eppendorf University Hospital, University of Hamburg, Hamburg, Germany.
    Several skeletal aberrations of the skull have been described for the tumor predisposition syndrome neurofibromatosis type 1 (NF1). Recently, periapical cemental/cemento-osseous dysplasia (COD) has been described in females affected with NF1. This reactive lesion of the hard tissues in tooth-bearing areas of the jaw has been proposed to represent a gender-specific radiological feature of NF1. Read More

    Contributions of inflammation and tumor microenvironment to neurofibroma tumorigenesis.
    J Clin Invest 2018 Mar 29. Epub 2018 Mar 29.
    Neurofibromatosis type 1 associates with multiple neoplasms and the Schwann cell tumor neurofibroma is the most prevalent. A hallmark feature of neurofibroma is mast cell infiltration which is recruited by chemoattractant stem cell factor (SCF) that has been suggested to sustain neurofibroma tumorigenesis. In this study, using new genetically engineered Scf mice, we decipher the contributions of tumor-derived SCF and mast cells to neurofibroma development. Read More

    A Conserved Circadian Function for the Neurofibromatosis 1 Gene.
    Cell Rep 2018 Mar;22(13):3416-3426
    Penn Chronobiology, Howard Hughes Medical Institute, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA. Electronic address:
    Loss of the Neurofibromatosis 1 (Nf1) protein, neurofibromin, in Drosophila disrupts circadian rhythms of locomotor activity without impairing central clock function, suggesting effects downstream of the clock. However, the relevant cellular mechanisms are not known. Leveraging the discovery of output circuits for locomotor rhythms, we dissected cellular actions of neurofibromin in recently identified substrates. Read More

    Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations in and .
    Epilepsia Open 2018 Mar 23;3(1):81-85. Epub 2017 Nov 23.
    Department of PediatricsGraduate School of Medical SciencesKyushu UniversityFukuokaJapan.
    Advance in the exome-wide sequencing analysis contributes to identifying hundreds of genes that are associated with early-onset epileptic encephalopathy and neurodevelopmental disorders. On the basis of massive sequencing data, functional interactions among different genes are suggested to explain the common molecular pathway underlying the pathogenic process of these disorders. However, the relevance of such interactions with the phenotypic severity or variety in an affected individual remains elusive. Read More

    Neurofibromatous neuropathy: An ultrastructural study.
    Ultrastruct Pathol 2018 Mar 27:1-5. Epub 2018 Mar 27.
    a Neuromuscular Unit, Department of Systems Medicine , University of Rome Tor Vergata , Rome , Italy.
    Plexiform neurofibroma is pathognomonic of neurofibromatosis 1 (NF1). An NF1-associated peripheral neuropathy has been described in a small minority of NF1 patients but its histopathological features are poorly characterized. We report the case of a 46-year-old woman presenting with bilateral supraclavicular painful masses without other stigmata of NF1. Read More

    Multimodal imaging of choroidal nodules in neurofibromatosis type-1.
    Indian J Ophthalmol 2018 Apr;66(4):586-588
    Dr. Rajendra Prasad Centre for Ophthalmic Sciences, All India Institute of Medical Sciences, New Delhi, India.
    Choroidal nodules in neurofibromatosis type-1 are common and are best imaged with near-infrared reflectance (NIR) imaging. The authors describe swept-source optical coherence tomography angiography (SSOCTA) of choroidal nodules. These nodules are seen as hyperflow areas on SSOCTA and correlate well to bright patches on NIR imaging. Read More

    [White hemithorax in a young women carrying coffee and milk spots].
    Rev Pneumol Clin 2018 Apr 23;74(2):100-103. Epub 2018 Mar 23.
    Université El-Manar, Tunisie; Service de pneumologie (C), hôpital Abderahmen-Mami, 1, rue de l'hôpital, Pavillon C, 2080 Ariana, Tunisie.
    Introduction: Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease is an autosomal dominant genetic disorder with multivisceral manifestations. We report the case of a spontaneous haemothorax in a young lady wearing this genetic pathology.

    Case Report: A 31-year-old woman with kyphoscoliosis developed acute chest pain and dyspnea. Read More

    Challenges associated with parenting youth with neurofibromatosis: A qualitative investigation.
    Am J Med Genet A 2018 Apr;176(4):959-968
    Department of Psychiatry, Massachusetts General Hospital/Harvard Medical School, Boston, Massachusetts.
    Parents of children with the neurofibromatoses (NF; neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis) are at an increased risk for emotional and physical health problems. This study aimed to determine parents' perceptions of stressors associated with parenting a child with NF in order to inform the development of a resiliency intervention. We conducted three live video semi structured focus groups with parents of youth with NF (N = 30), which were subsequently transcribed and coded using qualitative content analysis. Read More

    The Relationship Between Heart Rate Variability, Psychological Flexibility, and Pain in Neurofibromatosis Type 1.
    Pain Pract 2018 Mar 23. Epub 2018 Mar 23.
    Health Psychology and Neurobehavioral Research Group, National Cancer Institute, Bethesda, Maryland, U.S.A.
    Individuals with neurofibromatosis type 1 (NF1) and plexiform neurofibromas (PNs) can experience chronic pain. Previous research has examined the relationship between heart rate variability (HRV) and persistent pain. HRV is an index of autonomic nervous system functioning, and reflects the variability in time elapsed between heartbeats. Read More

    Seizures in children with neurofibromatosis type 1: is neurofibromatosis type 1 enough?
    Ital J Pediatr 2018 Mar 22;44(1):41. Epub 2018 Mar 22.
    Centro di Riferimento Pediatrico delle Neurofibromatosi, Dipartimento della Donna, del Bambino e di Chirurgia Generale e Specialistica, Università degli Studi della Campania "L. Vanvitelli", Caserta, Italy.
    Background: Neurofibromatosis type 1 (NF1) is related to a generally increased prevalence of seizures. The mechanism underlying the increased predisposition to seizures has not been fully elucidated. The aim of the study was to evaluate the role of NF1 in seizures pathogenesis in a cohort of children with NF1 and seizures. Read More

    Oscillatory motor patterning is impaired in neurofibromatosis type 1: a behavioural, EEG and fMRI study.
    J Neurodev Disord 2018 Mar 22;10(1):11. Epub 2018 Mar 22.
    CNC.IBILI, Institute for Biomedical Imaging and Life Sciences, University of Coimbra, 3000-548, Coimbra, Portugal.
    Background: Neurofibromatosis type1 (NF1) is associated with a broad range of behavioural deficits, and an imbalance between excitatory and inhibitory neurotransmission has been postulated in this disorder. Inhibition is involved in the control of frequency and stability of motor rhythms. Therefore, we aimed to explore the link between behavioural motor control, brain rhythms and brain activity, as assessed by EEG and fMRI in NF1. Read More

    Neurofibromatosis and Schwannomatosis.
    Semin Neurol 2018 Feb 16;38(1):73-85. Epub 2018 Mar 16.
    Department of Neurology, University Hospital of Heidelberg, Heidelberg, Germany.
    Neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis are a group of related classically inherited but often times sporadic tumor suppressor syndromes. Neuro-oncologists should recognize these syndromes, initiate necessary tests in patients with a clinical suspicion, and support genetic counseling of patients and families. In this review, clinical presentation, diagnostic criteria, day-to-day management including supportive care as well as updates on genetics, and experimental treatment strategies are discussed. Read More

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