Neuroimage Clin 2017 27;15:801-811. Epub 2017 Jun 27.

Department of Psychology, University of California, Los Angeles, United States.

Background: Neurofibromatosis Type 1 (NF1) is a genetic disorder that disrupts central nervous system development and neuronal function. Cognitively, NF1 is characterized by difficulties with executive control and visuospatial abilities. Little is known about the neural substrates underlying these deficits. Read More

Res Rep Urol 2017 27;9:113-119. Epub 2017 Jun 27.

Department of Endocrinology and Metabolism.

Recent guidelines recommend consideration of genetic screening in all newly diagnosed patients with pheochromocytoma. Patients diagnosed with pheochromocytoma in the Region of Southern Denmark during 2006-2013 without previously recognized monogenetic etiology were offered genetic screening for mutations in the VHL, RET, SDHB, SDHC, and SDHD genes. A total of 41 patients were included, and genetic data were available in 35. Read More

Pediatr Rep 2017 Jun 27;9(2):6810. Epub 2017 Jun 27.

Department of Pediatrics, Rutgers-Robert Wood Johnson Medical School, New Brunswick, NJ, USA.

Neurofibromatosis type 1 (NF1) is classically defined by the presence of multiple café-au-lait macules as one of the diagnostic criteria. Turner syndrome (TS) can also present with café-au-lait macules along with short stature. Our patient is the fifth reported with both NF1 and TS and the first who has been on growth hormone for short stature associated with TS. Read More

Skinmed 2017 1;15(3):223-225. Epub 2017 Jun 1.

Department of Dermatology and Venereology, Government Medical College, Haldwani (Nainital) 263139, Uttarakhand, India.

A 45-day-old infant was brought by his parents to the dermatology outpatient department with chief complaints of asymptomatic, depigmented lesions that had been present on his skin since birth. On mucocutaneous examination, large rhomboid-shaped depigmented macules were noted on the abdomen and lower extremities bilaterally (Figure 1). A depigmented macule was present on the forehead, with white hair (leukotrichia; a "developing forelock") (Figure 2). Read More

Respir Med Case Rep 2017 17;22:74-76. Epub 2017 Jun 17.

Department of Physiology and Respiratory Investigation, University Hospital of Besançon, Besançon, France.

Neurofibromatosis type 1 (NF1) is a genetic disease in which pulmonary complications are rare, but severe, especially pulmonary hypertension (PH). The mechanisms underlying the onset of PH in patients with NF1 are unclear and might be multifactorial. In particular, the frequent presence of pulmonary parenchymal lesions makes etiological diagnosis of PH difficult. Read More

J Neurodev Disord 2017 10;9:25. Epub 2017 Jul 10.

Medical Research Council Centre for Neuropsychiatric Genetics and Genomics and Division of Psychological Medicine and Clinical Neurosciences, School of Medicine, Cardiff University, Cardiff, UK.

Background: ADHD (attention deficit hyperactivity disorder) is a common neurodevelopmental disorder. There has been extensive clinical and basic research in the field of ADHD over the past 20 years, but the mechanisms underlying ADHD risk are multifactorial, complex and heterogeneous and, as yet, are poorly defined. In this review, we argue that one approach to address this challenge is to study well-defined disorders to provide insights into potential biological pathways that may be involved in idiopathic ADHD. Read More

Pathology 2017 Aug 8;49(5):553-555. Epub 2017 Jul 8.

Department of Anatomical Pathology, St George Hospital, Sydney, NSW, Australia.

Case Rep Ophthalmol 2017 May-Aug;8(2):358-361. Epub 2017 Jun 16.

Ophthalmology Department, Hospital Universitário Gaffrée e Guinle (UNIRIO), Rio de Janeiro, Brazil.

We describe the case of a neurofibroma on the lacrimal caruncle of a female patient with neurofibromatosis type 1 (NF1). NF1 is an autosomal dominant genetic disease with a wide variety of clinical manifestations, one of the most common of which is neurofibroma. The lesion was removed surgically under general anesthesia and sent to histopathological analysis, which confirmed the clinical diagnosis of a neurofibroma. Read More

J Neurosurg 2017 Jul 7:1-9. Epub 2017 Jul 7.

Department of Surgery, University of Toronto; and.

OBJECTIVE A surgical series of 201 benign and malignant peripheral nerve sheath tumors (PNSTs) was assessed to characterize the anatomical and clinical presentation of tumors and identify predictors of neurological outcome, recurrence, and extent of resection. METHODS All surgically treated PNSTs from the Division of Neurosurgery at Toronto Western Hospital from 1993 to 2010 were reviewed retrospectively. Data were collected on patient demographics, clinical presentation, surgical technique, extent of resection, postoperative neurological outcomes, and recurrence. Read More

Neurol India 2017 Jul-Aug;65(4):900-902

Department of Neuropathology, Christian Medical College, Vellore, Tamil Nadu, India.

Kurume Med J 2017 Jul 3. Epub 2017 Jul 3.

Department of Medicine, Kurume University School of Medicine.

Concomitant association of histologically proven inflammatory bowel disease (IBD) and neurofibromatosis type 1 (NF1) is a rare finding documented in only 5 adult clinical cases. A 34-year-old woman with known neurofibromatosis was admitted to our department with a 6-month history of intractable bloody diarrhea and abdominal pain. After a thorough clinical examination and paraclinical assessments, including colonoscopy and biopsy, ulcerative colitis (UC) was confirmed as the cause of gastrointestinal bleeding. Read More

J Coll Physicians Surg Pak 2016 Nov;26(11):140-141

Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Military Hospital, Rawalpindi.

Homocystinuria (HC) and neurofibromatosis type-1 (NF-1) are two genetically determined conditions with variable clinical manifestations. HC is a neurocutaneous autosomal recessive condition while NF-1 is an autosomal dominant phacomatosis. Both HC and NF-1 present with distinct systemic as well as ocular manifestations; however, vascular complications can occur in both the conditions. Read More

Arq Neuropsiquiatr 2017 Jun;75(6):366-371

Universidade Federal do Estado do Rio de Janeiro, Programa de Pós-Graduação em Neurologia, Rio de Janeiro RJ, Brasil.

Objective: In this study, we review the institution's experience in treating malignant peripheral nerve sheath tumors (MPNSTs). A secondary aim was to compare outcomes between MPNSTs with and without neurofibromatosis type 1 (NF1).

Methods: Ninety-two patients with MPNSTs, over a period of 20 years, were reviewed. Read More

Am J Med Genet A 2017 Jun 26. Epub 2017 Jun 26.

Department of Medical Genetics, Osaka Women's and Children's Hospital, Osaka Prefectural Hospital Organization, Osaka, Japan.

RASopathies are phenotypically overlapping genetic disorders caused by dysregulation of the RAS/mitogen-activated protein kinase (MAPK) signaling pathway. RASopathies include Noonan syndrome, cardio-facio-cutaneous (CFC) syndrome, Costello syndrome, Neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, Noonan-like syndrome, hereditary gingival fibromatosis, and capillary malformation/arteriovenous malformation syndrome. Recently, six patients with craniosynostosis and Noonan syndrome involving KRAS mutations were described in a review, and a patient with craniosynostosis and Noonan syndrome involving a SHOC2 mutation has also been reported. Read More

Curr Osteoporos Rep 2017 Jun 24. Epub 2017 Jun 24.

Center for Cancer and Cell Biology, Van Andel Research Institute, Grand Rapids, MI, USA.

Purpose Of Review: Wnt signaling plays a central role in development and homeostasis, and its dysregulation is a common event in many types of human cancer. Here we explore in detail the contributions of Wnt signaling to the initiation and maintenance of three types of saroma: Ewing sarcoma, osteosarcoma, and malignant peripheral nerve sheath tumors. This review provides an overview of the Wnt signaling pathway and explores in detail the current knowledge about its role in the initiation or maintenance of three tumor types: Ewing sarcoma, osteosarcoma, and malignant peripheral nerve sheath tumors. Read More

Spine J 2017 Jun 20. Epub 2017 Jun 20.

Department of orthopedics surgery, West China Hospital, Sichuan University, China.

Background Context: Efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in neurofibromatosis type-1(NF-1) is unknown. And there is no study that has directly compared the results of spinal deformity correction between non-dystrophic scoliosis in NF-1 and adolescent idiopathic scoliosis (AIS).

Purpose: To study the efficacy of one-stage posterior pedicle screw instrument used in the treatment of non-dystrophic scoliosis in NF-1 and compare non-dystrophic scoliosis in NF-1 with matched AIS to illustrate the differences. Read More

PLoS One 2017 23;12(6):e0178639. Epub 2017 Jun 23.

Children's Tumor Foundation, New York, United States of America.

The neurofibromatoses (neurofibromatosis type 1, neurofibromatosis type 2 and schwannomatosis) are rare disorders having clinical manifestations that vary greatly from patient to patient. The rarity and variability of these disorders has made it challenging for investigators to identify sufficient numbers of patients with particular clinical characteristics or specific germline mutations for participation in interventional studies. Similarly, because the natural history of all types of neurofibromatosis (NF) is variable and unique for each individual, it is difficult to identify meaningful clinical outcome measures for potential therapeutic interventions. Read More

Orthod Craniofac Res 2017 Jun;20 Suppl 1:32-38

Department of Orofacial Sciences and Program in Craniofacial Biology, University of California, San Francisco, San Francisco, CA, USA.

Objectives: 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), Noonan syndrome with multiple lentigines (NSML or LEOPARD syndrome), neurofibromatosis type 1 (NF1), Costello syndrome (CS), cardio-facio-cutaneous (CFC) syndrome, neurofibromatosis type 1-like syndrome (NFLS or Legius syndrome) and capillary malformation-arteriovenous malformation syndrome (CM-AVM). These disorders affect multiple systems, including the craniofacial complex. Read More

Hum Genomics 2017 Jun 21;11(1):13. Epub 2017 Jun 21.

Division of Cancer and Genetics, Institute of Medical Genetics, Cardiff University, Heath Park, Cardiff, CF14 4XN, UK.

Background: Neurofibromatosis type 1 (NF1: Online Mendelian Inheritance in Man (OMIM) #162200) is an autosomal dominantly inherited tumour predisposition syndrome. Heritable constitutional mutations in the NF1 gene result in dysregulation of the RAS/MAPK pathway and are causative of NF1. The major known function of the NF1 gene product neurofibromin is to downregulate RAS. Read More

Case Rep Med 2017 29;2017:8327215. Epub 2017 May 29.

1st Department of Otorhinolaryngology, Head and Neck Surgery, Aristotle University of Thessaloniki, AHEPA Hospital, 1 Stilponos Kyriakidi St., 54636 Thessaloniki, Greece.

Plexiform neurofibromas are benign tumors that tend to occur in patients suffering from neurofibromatosis type 1 (NF-1). This report addresses a rare case where the tumor affected the parotid gland, deriving almost exclusively from the peripheral portion of the facial nerve. A 6-year-old male was referred to us complaining about a gradually enlarging swelling over the right parotid area. Read More

Epilepsy Behav 2017 Jun 17;73:137-141. Epub 2017 Jun 17.

Duke University Medical Center, Division of Pediatric Neurology, Durham, NC 27710, United States. Electronic address:

Objectives: To describe the characteristics of epilepsy in patients with Neurofibromatosis type 1 (NF1).

Methods: Analysis of a cohort of consecutive NF1 patients seen in our NF1 clinic during a three-year period.

Results: Of the 184 NF1 patients seen during that period, 26 had epilepsy and three had febrile seizures. Read More

Am J Med Genet A 2017 Jun 20. Epub 2017 Jun 20.

Rare Diseases and Medical Genetics Unit, Bambino Gesù Children Hospital, IRCCS, Rome, Italy.

In children with neurofibromatosis type 1 (NF1) and optic pathways glioma (OPG), growth hormone (GH) excess has been rarely reported and mainly associated to central precocious puberty. The aim of our study is to evaluate the prevalence of GH excess, the association with central precocious puberty, the relation with tumor site and the evolution over time in a large cohort of children with NF1 and OPG. Sixty-four NF1 children with OPG were evaluated. Read More

Behav Brain Res 2017 Jun 16;332:337-342. Epub 2017 Jun 16.

Department of Behavioral Neuroscience, Oregon Health & Science University, Portland, OR 97239, USA; Departments of Neurology, and Radiation Medicine, Division of Neuroscience, ONPRC, Oregon Health & Science University, Portland, OR 97239, USA. Electronic address:

Heterozygous Neurofibromatosis 1 (NF1) loss of function mutations are found in 90% of patients with neurofibromatosis, a syndrome associated with disabling cognitive impairment. Drosophila studies have demonstrated a genetic interaction between Anaplastic Lymphoma Kinase (Alk) and NF1 in cognitive performance. In addition, pharmacologic inhibition of Alk improves cognitive performance in heterozygous NF1 mutant flies. Read More

Am J Med Genet A 2017 Jun 19. Epub 2017 Jun 19.

Department of Child and Adolescent Psychiatry/Psychology, Erasmus MC-Sophia Children's Hospital and ENCORE Expertise Centre for Neurodevelopmental Disorders, Rotterdam, The Netherlands.

This retrospective longitudinal study in young children with neurofibromatosis type 1 (NF1) aimed to identify if, and how early problems in behavior, intelligence, and language development are associated with later behavioral problems. At the first assessment at preschool age, we evaluated language skills, intelligence, and emotional and behavioral problems as reported by parents. The second assessment at school-age we evaluated intelligence, and emotional and behavioral problems as reported by parents and teachers. Read More

World Neurosurg 2017 Jun 16. Epub 2017 Jun 16.

Department of Neurosurgery, Kumamoto University Graduate School of Medical Science, Kumamoto, Japan.

Background: Neurofibromatosis type 1 (NF1) is a rare disease with an incidence of 1 in every 3000 births. Numerous studies have focused on the main function of NF1 as a tumor suppressor, whereas few have examined the cerebrovascular abnormalities observed in patients with NF1. It is worth noting that intracranial aneurysms are uncommon in this condition. Read More

Skeletal Radiol 2017 Jun 16. Epub 2017 Jun 16.

Department of Orthopaedic Surgery, Sir Charles Gairdner Hospital, Nedlands, WA, 6009, Australia.

Ossifying subperiosteal haematoma is an exceedingly rare manifestation of Neurofibromatosis type 1 (NF-1). We report an interesting case of plexiform neurofibroma causing a rapidly growing tibial mass as a result of subperiosteal haemorrhage, in an 11-year-old girl with previously undiagnosed NF-1. This reflects a precursor of the more mature periosteal ossification seen in cases traditionally termed "subperiosteal cysts". Read More

J Foot Ankle Surg 2017 Jun 13. Epub 2017 Jun 13.

Professor of Orthopaedics and Surgeon, Third Orthopaedic Department, University of Athens, KAT Hospital, Marousi, Greece.

Malignant peripheral nerve sheath tumors are rare soft tissue tumors accounting for 3% to 10% of all soft tissue tumors. They are strongly related to neurofibromatosis type 1, an autosomal dominant disease, and are characterized by aggressive biologic behavior, high local recurrence rates, and frequent metastases. Although the major nerves of the lower extremities are a common location of these tumors, scarce cases have been reported of malignant peripheral nerve sheath tumors involving the interdigital nerves of the foot. Read More

J Neurosurg Spine 2017 Jun 16:1-4. Epub 2017 Jun 16.

Department of Neurosurgery, University of Minnesota, Minneapolis, Minnesota.

Neurofibromatosis Type 1 (NF1) is a neurocutaneous disorder that can have associated spinal abnormalities related to both bone and dural dysplasia. Thoracic meningoceles are one spine anomaly associated with NF1, although they are a fairly uncommon pathology. Surgical techniques to treat these meningoceles, usually undertaken only when the patient is symptomatic, are targeted at decreasing the size of the protrusion and improving lung capacity. Read More

Cureus 2017 May 9;9(5):e1233. Epub 2017 May 9.

Radiology, Nemours Chil.

Moyamoya syndrome is a rare cerebrovasculopathy of unknown etiology which is associated with multiple risk factors. Moyamoya was first discovered in Japan and is reported to have an increased prevalence in the Japanese population. The term "Moyamoya" translates into "puff of smoke" and is named after the finding of the collateral cerebral vasculature that develops secondary to occlusion of an internal carotid artery at the entrance into the circle of Willis. Read More

Clin Cancer Res 2017 Jun;23(12):e54-e61

Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.

The neurofibromatoses consist of at least three autosomal-dominant inherited disorders: neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis. For over 80 years, these conditions were inextricably tied together under generalized neurofibromatosis. In 1987, the localization of NF1 to chromosome 17q and NF2 (bilateral vestibular schwannoma) to 22q led to a consensus conference at Bethesda, Maryland. Read More

Clin Cancer Res 2017 Jun;23(12):e46-e53

Division of Haematology/Oncology, University of Toronto, Toronto, Ontario, Canada.

Although the neurofibromatoses consist of at least three autosomal dominantly inherited disorders, neurofibromatosis 1 (NF1), neurofibromatosis 2 (NF2), and schwannomatosis, NF1 represents a multisystem pleiotropic condition very different from the other two. NF1 is a genetic syndrome first manifesting in childhood; affecting multiple organs, childhood development, and neurocognitive status; and presenting the clinician with often complex management decisions that require a multidisciplinary approach. Molecular genetic testing (see article for detailed discussion) is recommended to confirm NF1, particularly in children fulfilling only pigmentary features of the diagnostic criteria. Read More

Oncotarget 2017 May 30. Epub 2017 May 30.

Division of Hematology, Oncology, Blood and Marrow Transplant, Department of Pediatrics, Nationwide Children's Hospital, Columbus, Ohio, USA.

Successful treatment of neurofibromatosis type 1 (NF1)-associated tumors poses a significant clinical challenge. While the primary underlying genetic defect driving RAS signaling is well described, recent evidence suggests immune dysfunction contributes to tumor pathogenesis and malignant transformation. As immunologic characterizations, prognostic and predictive of immunotherapeutic clinical response in other cancers, are not fully described for benign and malignant NF1-related tumors, we sought to define their immunologic profiles. Read More

Cytogenet Genome Res 2017 Jun 13. Epub 2017 Jun 13.

Laboratory of Cytogenetics, Giannina Gaslini Institute, Genoa, Italy.

17q11.2 microduplication syndrome is a recently described relatively rare condition associated with a nonspecific phenotype. Intellectual disability, developmental delay, and dysmorphisms are the only clinical features common to a majority of cases. Read More

Psychiatry Res 2017 Jun 6;266:53-58. Epub 2017 Jun 6.

Department of Pediatrics and Neurology, George Washington University, School of Medicine, Washington, DC, USA; Children's National Health System, Washington, DC, USA. Electronic address:

In this pilot study, we examined training effects of a computerized working memory program on resting state functional magnetic resonance imaging (fMRI) measures in children with neurofibromatosis type 1 (NF1). We contrasted pre- with post-training resting state fMRI and cognitive measures from 16 participants (nine males; 11.1 ± 2. Read More

Clin Exp Dermatol 2017 Jun 8. Epub 2017 Jun 8.

Department of Medical Genetics, University of Szeged, Szeged, Hungary.

Neurofibromatosis type 1 (NF1; OMIM 162200), a dominantly inherited multitumor syndrome, results from mutations in the Neurofibromin 1 (NF1) gene. We present the case of a Hungarian woman with the clinical phenotype of NF1 over her whole body and the clinical features of unilateral overgrowth involving her entire left leg. This unusual phenotype suggested either the atypical form of NF1 or the coexistence of NF1 and overgrowth syndrome. Read More

J Neurooncol 2017 Jun 7. Epub 2017 Jun 7.

National Neurofibromatosis Service, Guy's and St. Thomas' NHS Foundation Trust, London, UK.

Type 1 Neurofibromatosis (NF1) is a common autosomal dominant condition, with a major impact on the nervous system, eye, bone, and skin, and a predisposition to malignancy. At present it is not possible to predict clinically or on imaging, whether a brain tumour will remain indolent or undergo high-grade change. There are no consensus guidelines on the follow-up of non-optic pathway glioma (non-OPG) tumours in NF1. Read More

Sarcoma 2017 16;2017:7429697. Epub 2017 May 16.

National Cancer Institute, Pediatric Oncology Branch, 10 Center Drive, Room 1-3742, Building 10, Bethesda, MD 20892, USA.

Malignant peripheral nerve sheath tumor (MPNST) is the leading cause of mortality in patients with neurofibromatosis type 1. In 2002, an MPNST consensus statement reviewed the current knowledge and provided guidance for the diagnosis and management of MPNST. Although the improvement in clinical outcome has not changed, substantial progress has been made in understanding the natural history and biology of MPNST through imaging and genomic advances since 2002. Read More

Eur J Nucl Med Mol Imaging 2017 Jun 7. Epub 2017 Jun 7.

Cancer Imaging Department, Division of Imaging Sciences and Biomedical Engineering, King's College London, London, SE1 7EH, UK.

Purpose: Measurement of heterogeneity in (18)F-fluorodeoxyglucose ((18)F-FDG) positron emission tomography (PET) images is reported to improve tumour phenotyping and response assessment in a number of cancers. We aimed to determine whether measurements of (18)F-FDG heterogeneity could improve differentiation of benign symptomatic neurofibromas from malignant peripheral nerve sheath tumours (MPNSTs).

Methods: (18)F-FDG PET data from a cohort of 54 patients (24 female, 30 male, mean age 35. Read More

Exp Neurol 2017 Jun 3. Epub 2017 Jun 3.

Department of Radiology, The Children's Hospital of Philadelphia, Philadelphia, PA, United States.

Introduction: Fractional anisotropy (FA) of the optic radiations has been associated with vision deficit in multiple intrinsic brain pathologies including NF1 associated optic pathway glioma, but hand-drawn regions of interest used in previous tractography methods limit consistency of this potential biomarker. We created an automated method to identify white matter tracts in the optic radiations and compared this method to previously reported hand-drawn tractography.

Method: Automated tractography of the optic radiation using probabilistic streamline fiber tracking between the lateral geniculate nucleus of the thalamus and the occipital cortex was compared to the hand-drawn method between regions of interest posterior to Meyer's loop and anterior to tract branching near the calcarine cortex. Read More

J Atten Disord 2017 Jun 1:1087054717707579. Epub 2017 Jun 1.

9 Laboratoire d'Étude des Mécanismes Cognitifs, EA 3082, Université de Lyon, Université Lumière-Lyon 2, Lyon, France.

Objective: To compare children with Neurofibromatosis type 1 and associated ADHD symptomatology (NF1 + ADHD) with children having received a diagnosis of ADHD without NF1. The idea was that performance differences in tasks of attention between these two groups would be attributable not to the ADHD symptomatology, but to NF1 alone.

Method: One group of children with NF1 + ADHD ( N = 32), one group of children with ADHD ( N = 31), and one group of healthy controls ( N = 40) participated in a set of computerized tasks assessing intensive, selective, and executive aspects of attention. Read More

J Med Imaging Radiat Oncol 2017 Jun 5. Epub 2017 Jun 5.

Department of Endocrinology, Seth G S Medical College and KEM Hospital, Mumbai, India.

Introduction: Although few studies have demonstrated utility of (18) F- fluoro-2-deoxy-d-glucose positron emission tomography/computerised tomography ((18) F-FDG PET/CT) in benign pheochromocytoma/paragangliomas (PCC/PGLs), there limited data on factors predicting the FDG uptake in PCC/PGL.

Methods: The study was conducted at a tertiary health care centre. In addition to the routine investigations, all patients (n = 96) with PCC/PGL were evaluated with (18) F-FDGPET/CT and majority (n = 78) underwent (131) I-metaiodobenzyl guanidine ((131) I-MIBG) scintigraphy. Read More

Bone Rep 2016 Dec 14;5:292-298. Epub 2016 Oct 14.

Department of Biostatistics, Christian Medical College, Vellore 632004, Tamil Nadu, India.

Neurofibromatosis type 1 (NF1) is a commonly occurring genetic disorder in children. Mutation in the NF1 gene has its implication in poor osteoblastic capabilities. We hypothesised that pamidronate will enhance the osteoblastic potential of the mesenchymal stem cells (MSCs) derived from lipofibromatosis tissue of children with congenital pseudarthrosis tibia (CPT) associated with NF1. Read More

J Neurooncol 2017 Jun 2. Epub 2017 Jun 2.

Clinical Genetics Unit, Department of Woman and Child Health, University of Padova, Via Giustiniani 3, 35128, Padova, Italy.

Optic pathway glioma (OPG) represents the most common central nervous system tumor in children with Neurofibromatosis type-1 (NF1). Although overall survival is usually good, no clear prognostic factors have been identified so far. We assessed the natural history of OPG in a cohort of unselected patients affected by NF1. Read More

PLoS One 2017 2;12(6):e0178711. Epub 2017 Jun 2.

Neurosurgery, NeuroCenter, Kuopio University Hospital, Kuopio, Finland.

Background: The prevalence of intracranial aneurysms (IAs) has been proposed to be elevated in the patients with neurofibromatosis type 1 (NF1). Our aims were to determine the prevalence of NF1 in a large Finnish population based cohort of IA patients and, on the other hand, the occurrences of subarachnoid haemorrhage and unruptured intracranial aneurysms in a nationwide population-based cohort of NF1 patients and its matched ten-fold control cohort.

Methods: The Kuopio IA Database (www. Read More

J Clin Diagn Res 2017 Apr 1;11(4):ED23-ED24. Epub 2017 Apr 1.

Professor, Department of Pathology, Pondicherry Institute of Medical Sciences, Puducherry, India.

Pleomorphic Xanthoastrocytoma (PXA) is a rare brain tumour comprising only <1% of primary brain tumours which is seen in children and young adults. Only 9-20% of the PXA shows anaplastic features and this has a bad prognosis. PXA is a WHO grade II tumour while anaplastic PXA is a WHO grade III tumour. Read More

Medicine (Baltimore) 2017 Jun;96(22):e6977

aDepartment of Orthopedic Surgery, Shin Kong Wu Ho-Su Memorial Hospital, Taipei bDepartment of Orthopedic Surgery, Chang Gung Memorial Hospital, Chang Gung University College of Medicine cBone and Joint Research Center, Chang Gung Memorial Hospital, Taoyuan, Taiwan.

Surgical management of severe rigid dystrophic neurofibromatosis (NF) scoliosis is technically demanding and produces varying results. In the current study, we reviewed 9 patients who were treated with combined anterior and posterior fusion using different types of instrumentation (i.e. Read More

Orthop Traumatol Surg Res 2017 May 27. Epub 2017 May 27.

Service de chirurgie orthopédique pédiatrique, hôpital Femme-Mère-Enfant, Bron, France.

Background: The objective of this study was to compare outcomes of two surgical techniques used to treat congenital pseudarthrosis of the tibia (CPT), the induced membrane technique (IM) and the transfer of the contralateral vascularised fibula (VF).

Hypothesis: The IM technique produces similar outcomes to those of VF grafting in terms of healing and function, while being simpler and having a lower complication rate.

Material And Method: This retrospective multicentre study included 18 patients with a mean age of 2. Read More

PLoS One 2017 30;12(5):e0178493. Epub 2017 May 30.

Department of Biochemical Science and Technology, National Taiwan University, Taipei, Taiwan.

Neurofibromatosis type 1 (NF1) is one of the most common neurocutaneous disorders. Some NF1 patients develop benign large plexiform neurofibroma(s) at birth, which can then transform into a malignant peripheral nerve sheath tumor (MPNST). There is no curative treatment for this rapidly progressive and easily metastatic neurofibrosarcoma. Read More

Cortex 2017 May 6;93:1-11. Epub 2017 May 6.

Institute for Neuroscience and Muscle Research, The Children's Hospital at Westmead, Sydney, Australia; Murdoch Childrens Research Institute, Melbourne, Victoria, Australia.

Impaired response inhibition is a predominant feature of several neuropsychiatric disorders; in general the underlying aetiology of these disorders and associated impairments is unknown. The common occurrence of impaired response inhibition in a single gene disorder such as neurofibromatosis type 1 (NF1), provides a valuable opportunity to explore its mechanistic basis through the study of gene-brain-behaviour interactions. We used functional brain imaging with a Go/No-Go task to examine the neural substrates of response inhibition in children with NF1 and age and gender matched typically developing subjects. Read More

Balkan Med J 2017 May 29. Epub 2017 May 29.

Background: Neurofibromatosis type 1 is an autosomal dominant neurocutaneous disorder in which coexistence with autoimmune thyroiditis and thyroid gland tumours has been reported previously.

Aims: We aimed to determine the thyroid function and autoimmune thyroid diseases in neurofibromatosis type 1 patients in order to identify the possible association between neurofibromatosis type 1 and thyroid diseases.

Study Design: Case-control study. Read More