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Neurofibromatosis + review

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https://www.readbyqxmd.com/read/29455398/mr-imaging-of-neoplastic-and-non-neoplastic-lesions-of-the-brain-and-spine-in-neurofibromatosis-type-i
#1
Ahmed Abdel Khalek Abdel Razek
The aim of this work is to review the MR imaging of neoplastic and non-neoplastic lesions of the brain and spine in neurofibromatosis type I. Neoplastic lesions are optic pathway gliomas, brain stem gliomas, other gliomas of the brain, and peripheral nerve sheath tumors. Structural changes in the brain include unidentified bright objects, macrocephaly, and enlarged corpus callosum. Bony dysplasia changes as sphenoid ridge dysplasia, spinal scalloping, dural ectasia, and meningoceles. Vasculopathy and cortical cerebral and cerebellar malformations of the brain have been reported...
February 17, 2018: Neurological Sciences
https://www.readbyqxmd.com/read/29450403/iris-juvenile-xanthogranuloma-in-an-infant-spontaneous-hyphema-and-secondary-glaucoma
#2
Anca Pantalon, Tudor Ștefănache, Mihai Danciu, Sabina Zurac, Dorin Chiseliță
Juvenile xanthogranuloma (JXG) is a benign histiocytic skin disorder mainly encountered during infancy and childhood. Although with multiple potential localizations, less than 1% of the cases exhibit ocular manifestations. Some of these might lead to serious complications, specifically, secondary glaucoma that can result in severe and blinding eye disease. The aim of the present case report was to demonstrate typical clinical features, emphasize the difficulties attributed when managing these patients and literature review...
July 2017: Romanian Journal of Ophthalmology
https://www.readbyqxmd.com/read/29444793/isolated-bladder-schwannoma-a-rare-presentation
#3
Samer Jallad, Samir Ghani, Mohammad Ali Omar, Hanif Motiwala
Bladder schwannoma is a rare tumour arising from Schwann cells in nerve sheaths. It is usually more common in patients diagnosed with neurofibromatosis. However, isolated cases of urinary bladder schwannoma is incredibly rare, attributing to <0.1% of bladder tumours. A literature review and analysis revealed that it presents in adulthood, is mostly symptomatic and diagnosis is established histologically. We report a case of isolated bladder schwannoma in 25 year-old female who presented with dyspareunia.
February 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29441214/syndromic-hearing-loss-a-brief-review-of-common-presentations-and-genetics
#4
REVIEW
John D Gettelfinger, John P Dahl
Congenital hearing loss is one of the most common birth defects worldwide, with around 1 in 500 people experiencing some form of severe hearing loss. While over 400 different syndromes involving hearing loss have been described, it is important to be familiar with a wide range of syndromes involving hearing loss so an early diagnosis can be made and early intervention can be pursued to maximize functional hearing and speech-language development in the setting of verbal communication. This review aims to describe the presentation and genetics for some of the most frequently occurring syndromes involving hearing loss, including neurofibromatosis type 2, branchio-oto-renal syndrome, Treacher Collins syndrome, Stickler syndrome, Waardenburg syndrome, Pendred syndrome, Jervell and Lange-Nielsen syndrome, Usher syndromes, Refsum disease, Alport syndrome, MELAS, and MERRF...
March 2018: Journal of Pediatric Genetics
https://www.readbyqxmd.com/read/29435207/supernumerary-molars-and-wisdom-tooth-shape-alterations-in-patients-with-neurofibromatosis-type-1
#5
Reinhard E Friedrich, Anika Reul
Objectives: The purpose of the present study was the systematic investigation of numerical and morphological aberrations of teeth in the wisdom teeth region in neurofibromatosis type 1 patients. Material and Methods: The panoramic radiographs of 179 patients were analysed for supernumerary molars and dysplastic wisdom teeth with special reference to facial tumour type. The results were compared to radiographic findings obtained in panoramic radiographs of age- and sex-matched controls...
October 2017: Journal of Oral & Maxillofacial Research
https://www.readbyqxmd.com/read/29429787/the-difficulty-of-predicting-clinical-outcome-after-intended-submaximal-resection-of-large-vestibular-schwannomas
#6
Rebecca MacKenzie, Peter Sporns, Tarek Zoubi, Mario Koopmann, Christian Ewelt, Walter Stummer, Benjamin Brokinkel, Eric Suero Molina
INTRODUCTION: Intended subtotal resection of large vestibular schwannomas (T4a and b according to the Hannover classification system) has been shown to be safe and, in combination with stereotactic radiosurgery, might enable sufficient tumor control. However, risk factors for postoperative neurological deterioration in these surgically challenging lesions are largely unknown. METHODS: Pre- and postoperative symptoms, clinical and radiological data of patients who underwent intended subtotal resection for vestibular schwannoma in our department between 2010 and 2014 were reviewed...
February 8, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29424646/optic-pathway-hypothalamic-glioma-hemorrhage-a-series-of-9-patients-and-review-of-the-literature
#7
Kirsten van Baarsen, Jonathan Roth, Natalia Serova, Roger J Packer, Ben Shofty, Ulrich-W Thomale, Giuseppe Cinalli, Helen Toledano, Shalom Michowiz, Shlomi Constantini
OBJECTIVE Hemorrhage (also known as apoplexy) in optic pathway gliomas (OPGs) is rare. Because of the variable presentations and low incidence of OPG hemorrhages, little is known about their clinical course and the best treatment options. The aim of this work was to review risk factors, clinical course, and treatment strategies of optic glioma hemorrhages in the largest possible number of cases. METHODS A total of 34 patients were analyzed. Nine new cases were collected, and 25 were identified in the literature...
February 9, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29398196/monitoring-of-optic-nerve-function-in-neurofibromatosis-2-children-with-optic-nerve-sheath-meningiomas-using-multifocal-visual-evoked-potentials
#8
V Jayanetti, A I Klistorner, S L Graham, M Dexter, M P Flaherty, K Jones, F A Billson, M Wilson, K North, J R Grigg, C L Fraser
Monitoring optic nerve sheath meningiomas (ONSM) in Neurofibromatosis type 2 (NF2) patients remains difficult. Other ocular manifestations of NF2 may obscure ophthalmic assessment of optic nerve function in these patients. Serial magnetic resonance imaging (MRI) used to assess the optic nerve is not without limitations, being expensive and often requiring general anaesthetic in children, with associated risks. This study was undertaken to describe the use of multifocal visual evoked potentials (multifocal VEP, mfVEP) in the regular monitoring of NF2 patients with ONSM...
February 2, 2018: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://www.readbyqxmd.com/read/29393688/systematic-review-of-high-level-mobility-training-in-people-with-a-neurological-impairment
#9
Tanja Spencer, Sara Aldous, Gavin Williams, Michael Fahey
AIM: The objective of this paper was to systematically review the efficacy of interventions targeting high-level mobility skills in people with a neurological impairment. METHODS: A comprehensive electronic database search was conducted. Study designs were graded using the American Academy of Cerebral Palsy and Developmental Medicine (AACPDM) system and methodological quality was described using the Physiotherapy Evidence Database (PEDro) scale. RESULTS: Twelve exploratory studies (AACPDM levels IV/V), of limited methodological quality (PEDro scores of 2-3 out of 10), were included...
February 2, 2018: Brain Injury: [BI]
https://www.readbyqxmd.com/read/29388340/early-history-of-the-different-forms-of-neurofibromatosis-from-ancient-egypt-to-the-british-empire-and-beyond-first-descriptions-medical-curiosities-misconceptions-landmarks-and-the-persons-behind-the-syndromes
#10
REVIEW
Martino Ruggieri, Andrea D Praticò, Rosario Caltabiano, Agata Polizzi
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the Ebers Papyrus (Ancient Egypt, 1.500 B.C.), in a Hellenistic statuette (Smyrna, 323 B.C.), in the coinage of the Parthians kings (247 B.C.) and in some 13th century monks' drawings. These earlier examples are somewhat less well defined as compared to the most recent better defined reports credited as having NF1 including an Inca child mummy (1480-1650 AD), Ulisse Aldrovandi's homuncio ("Monstrorum Historia", 1592 A.D.) with mosaic NF1 or the illustrations seen in the 18th century "Buffon's Histoire Naturelle" and "Cruveilhier's Anatomie Pathologique du Corps Human"...
February 1, 2018: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29350599/prognostic-factors-for-progression-in-atypical-meningioma
#11
Shakir I Shakir, Luis Souhami, Kevin Petrecca, Jose João Mansure, Khushdeep Singh, Valerie Panet-Raymond, George Shenouda, Amal A Al-Odaini, Bassam Abdulkarim, Marie-Christine Guiot
OBJECTIVE The optimal adjuvant management for atypical meningiomas remains controversial. The aim of this study was to review long-term outcomes to identify potential prognostic factors for disease progression. METHODS From August 1992 to August 2013, 70 patients with atypical meningioma were treated at the authors' institution. Pathology revision was performed based on WHO 2007 criteria. Patients with multiple tumors, neurofibromatosis Type 2, or inadequate imaging follow-up were not eligible. The authors performed pre- and postoperative serial measurements of tumor volume from MRI...
January 19, 2018: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29342035/systematic-review-of-hearing-preservation-after-radiotherapy-for-vestibular-schwannoma
#12
Adam R Coughlin, Tyler J Willman, Samuel P Gubbels
OBJECTIVE: To determine the long-term hearing preservation rate for spontaneous vestibular schwannoma treated by primary radiotherapy. DATA SOURCES: The MEDLINE/PubMed, Web of Science, Cochrane Reviews, and EMBASE databases were searched using a comprehensive Boolean keyword search developed in conjunction with a scientific librarian. English language papers published from 2000 to 2016 were evaluated. STUDY SELECTION: Inclusion criteria: full articles, pretreatment and posttreatment audiograms or audiogram based scoring system, vestibular schwannoma only tumor type, reported time to follow-up, published after 1999, use of either Gamma Knife or linear accelerator radiotherapy...
March 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29335026/congenital-anomalies-in-neurofibromatosis-1-a-retrospective-register-based-total-population-study
#13
Jussi Leppävirta, Roope A Kallionpää, Elina Uusitalo, Tero Vahlberg, Minna Pöyhönen, Juha Peltonen, Sirkku Peltonen
BACKGROUND: Neurofibromatosis type 1 (NF1) is a dominantly inherited Rasopathy caused by mutations in the NF1 gene on chromosome 17. NF1 has been connected to congenital anomalies, e.g., in the skeletal and cardiovascular systems, but the overall incidence of anomalies is unknown. In this retrospective register-based total population study conducted in Finland, the congenital anomalies in NF1 were evaluated. METHODS: One thousand four hundred ten patients with NF1 were identified by searching the medical records related to inpatient and outpatient hospital visits of patients with an associated diagnosis for NF1 in 1987-2011...
January 15, 2018: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/29322178/early-genetic-diagnosis-of-neurofibromatosis-type-2-from-skin-plaque-plexiform-schwannomas-in-childhood
#14
Elisabeth Castellanos, Adrià Plana, Cristina Carrato, Meritxell Carrió, Inma Rosas, Emilio Amilibia, Francesc Roca-Ribas, Cristina Hostalot, Alicia Castillo, Andrea Ros, Ariadna Quer, Juan Luis Becerra, Hector Salvador, Conxi Lázaro, Ignacio Blanco, Eduard Serra, Isabel Bielsa
Importance: Neurofibromatosis type 2 (NF2) is a devastating genetic condition characterized by the development of multiple tumors of the nervous system. An early diagnosis of individuals with NF2 would facilitate treatment and reduction of disease impact because most severe effects of the disease do not usually develop before adolescence. Little attention has traditionally been paid to dermatological signs in NF2. However, skin plaques are commonly seen in patients with NF2, normally appearing either at birth or early childhood, providing an opportunity for early NF2 detection and testing...
January 10, 2018: JAMA Dermatology
https://www.readbyqxmd.com/read/29318935/psychosocial-features-of-neurofibromatosis-type-1-in-children-and-adolescents
#15
Vincent Domon-Archambault, Louise Gagnon, Amélie Benoît, Sébastien Perreault
Neurofibromatosis type 1 (NF1) is a common neurologic condition associated with a wide variety of developmental deficits that have an important impact on children and adolescents. OBJECTIVE: This article aims to document the psychosocial features of NF1 and to report the interventions described to address the needs of pediatric patients with NF1. METHODS: A literature review was conducted concerning the social life, mental health, and quality of life (QOL) of children and adolescents with NF1 as well as the psychosocial interventions addressed to this population...
January 1, 2018: Journal of Child Neurology
https://www.readbyqxmd.com/read/29290324/-mucosal-schwann-cells-hamartoma-review-of-a-recently-described-entity
#16
Francisco García-Molina, José Antonio Ruíz-Macia, Joaquin Sola
Neural lesions of the colon may be masses (schwannomas and neurofibromas) or, more frequently, small polyps including perineuromas, ganglioneuromas and granular cell tumors. Some neural lesions are associated with congenital syndromes (neurofibromatosis-1, multiple endocrine neoplasia-2B). Recently, a new entity has been described named mucosal Schwann cell hamartoma, consisting of an intramucosal neural proliferation; to date, less than forty cases have been reported. We report a further case in a patient from whom a polyp was extirpated during colonoscopy screening...
January 2018: Revista Española de Patología
https://www.readbyqxmd.com/read/29279723/diagnostics-and-therapy-of-vestibular-schwannomas-an-interdisciplinary-challenge
#17
REVIEW
Steffen Rosahl, Christopher Bohr, Michael Lell, Klaus Hamm, Heinrich Iro
Vestibular schwannomas (VS) expand slowly in the internal auditory canal, in the cerebellopontine angle, inside the cochlear and the labyrinth. Larger tumors can displace and compress the brainstem. With an annual incidence of 1:100,000 vestibular schwannoma represent 6-7% of all intracranial tumors. In the cerebellopontine angle they are by far the most neoplasm with 90% of all lesions located in this region. Magnetic resonance imaging (MRI), audiometry, and vestibular diagnostics are the mainstays of the clinical workup for patients harboring tumors...
2017: GMS Current Topics in Otorhinolaryngology, Head and Neck Surgery
https://www.readbyqxmd.com/read/29223524/gamma-knife-stereotactic-radiosurgery-for-non-vestibular-cranial-nerve-schwannomas
#18
Anne-Marie Langlois, Christian Iorio-Morin, Laurence Masson-Côté, David Mathieu
BACKGROUND: Non-vestibular cranial schwannomas represent a rare type of benign intracranial tumor. Few studies have evaluated the use of stereotactic radiosurgery (SRS) as a primary management option for these lesions. We therefore performed a retrospective review of our institution's experience focussing on efficacy with regards to tumor control and clinical symptom stabilization, as well as treatment safety. METHODS: Patients were included if they underwent at least one SRS procedure for a non-vestibular schwannoma and had at least 6 months of available imaging follow-up...
December 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29215653/prevalence-of-neurofibromatosis-type-1-in-the-finnish-population
#19
Roope A Kallionpää, Elina Uusitalo, Jussi Leppävirta, Minna Pöyhönen, Sirkku Peltonen, Juha Peltonen
PurposeThe incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland.MethodsAll secondary and tertiary referral centers of Finland were searched for NF1 patients. Patient records were manually reviewed and patients fulfilling the National Institutes of Health diagnostic criteria for NF1 were included. Prevalence on 31 December 2005 was determined. Data on incidence and survival were combined to refine the prevalence estimation...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215515/isolated-absent-thelarche-in-a-patient-with-neurofibromatosis-type-1-and-acromegaly
#20
Anne E Martini, Jessica R Zolton, Alan H DeCherney
BACKGROUND: Isolated absent thelarche is a rare condition that is infrequently reviewed in the literature. CASE: A 28-year-old woman with neurofibromatosis type 1 and acromegaly presented with absent breast development despite hormone therapy. Examination noted a normally developed woman with acromegalic features and Tanner stage I breasts. Hormone studies and karyotype were normal. Magnetic resonance imaging of the patient's brain demonstrated a voluminous pituitary...
December 4, 2017: Obstetrics and Gynecology
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