keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis + review

keyword
https://www.readbyqxmd.com/read/29223524/gamma-knife-stereotactic-radiosurgery-for-non-vestibular-cranial-nerve-schwannomas
#1
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
#2
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
#3
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
https://www.readbyqxmd.com/read/29201372/the-importance-of-pheochromocytoma-case-detection-in-patients-with-neurofibromatosis-type-1-a-case-report-and-review-of-literature
#4
Joshua M Tate, Janelle B Gyorffy, Jeffrey A Colburn
Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0.2%-0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29200695/metaplastic-carcinoma-of-breast-and-neurofibromatosis-1-a-rare-association
#5
Gnanapriya Vellaisamy, Suravi Mohanty, Pritilata Rout, Suraj Manjunath
Neurofibromatosis 1 (NF1) patients are generally at higher risk of developing common malignant tumors such as brain and soft tissue tumors. These patients are 5-fold increased the risk of developing breast cancer by the age of 50 years after that the risk remains the same. The most common reported cancer is infiltrating duct carcinoma. We report a case of 61-year-old female with NF1 presented with pain and breast lump for the past 2 months. On mammography, a retroareolar solid cystic lesion measuring 32 mm × 30 mm × 30 mm was noted which was definitive for malignancy...
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29188529/spinal-ependymomas-in-nf2-a-surgical-disease
#6
M Kalamarides, W Essayed, J P Lejeune, R Aboukais, O Sterkers, D Bernardeschi, M Peyre, S K Lloyd, S Freeman, C Hammerbeck-Ward, M Kellett, S A Rutherford, D G Evans, O Pathmanaban, A T King
The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients...
November 29, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29181333/developing-cervical-hematoma-following-jaw-thrust-maneuver-triggered-diagnosis-of-neurofibromatosis-a-case-report-and-brief-literature-review
#7
Behzad Nemati Honar, Alireza Mirkheshti, Elham Memary
A 25-year-old man underwent an excision of a thigh mass under general anesthesia without any complication. After the operation, he developed oxygen desaturation requiring a jaw thrust maneuver. A rapidly expanding hematoma on the right side of the neck was formed shortly after the application of the maneuver. The patient was returned to the operation room for a neck exploration. Damage to the facial artery and vein was noted. Further evaluations confirmed the diagnosis of Neurofibromatosis type 1 (NF-1). It is recommended that considering the probable risk of arising hematoma in NF-1 patients, application of jaw thrust maneuver should be performed meticulously...
June 2017: Anesthesiology and Pain Medicine
https://www.readbyqxmd.com/read/29177153/poliosis-and-neurofibromatosis-type-1-two-familiar-cases-and-review-of-the-literature
#8
Iria Neri, Giulia Liberati, Bianca Maria Piraccini, Annalisa Patrizi
Two brothers were referred to our clinic for reevaluation of neurofibromatosis type 1 (NF1). Both brothers presented a peculiarity that is not so common in NF1: poliosis overlying plexiform neurofibromas on the scalp. Poliosis overlying plexiform neurofibromas is rarely reported in the literature. The peculiarity of our cases is the familiarity and the presence of poliosis in the same location.
October 2017: Skin Appendage Disorders
https://www.readbyqxmd.com/read/29174469/boundary-cap-cells-in-development-and-disease
#9
REVIEW
Katarzyna J Radomska, Piotr Topilko
Broad plasticity of the peripheral glia is an emerging concept during development of the peripheral nervous system (PNS). Recent studies have identified the neural crest-derived boundary caps (BCs), as a multitask stem cell population of the developing PNS. BC progeny migrate along the nerves to provide the major glial component of nerve roots and nerve terminals in the skin. Strikingly, those two locations constitute the privileged sites for development of benign peripheral nerve sheath tumors called neurofibromas in patients with neurofibromatosis type 1 (NF1), making BCs attractive candidates for the 'cell of origin' of this disease...
November 22, 2017: Current Opinion in Neurobiology
https://www.readbyqxmd.com/read/29164079/cognitive-and-behavioral-disorders-in-children-with-neurofibromatosis-type-1
#10
REVIEW
Martha Milade Torres Nupan, Alberto Velez Van Meerbeke, Claudia Alejandra López Cabra, Paula Marcela Herrera Gomez
Aim: The last systematic review of research on the behavior of children with neurofibromatosis type 1 (NF1) was in 2012. Since then, several important findings have been published. Therefore, the study aim was to synthesize recent relevant work related to this issue. Method: We conducted a systematic review of the literature. Relevant articles were identified using the electronic databases PubMed, PsycINFO, and Scopus and a manual search of references lists. Thirty of 156 articles identified met the inclusion criteria...
2017: Frontiers in Pediatrics
https://www.readbyqxmd.com/read/29146762/natural-history-of-primary-paediatric-optic-nerve-sheath-meningioma-case-series-and-review
#11
Daniel S Narayan, Ghislaine L Traber, Edwin Figueira, Adnan Pirbhai, Klara Landau, Garry Davis, John Crompton, Dinesh Selva
PURPOSE: To study the natural history, clinical and radiological characteristics of primary paediatric optic nerve sheath meningioma (PPONSM). METHODS: Retrospective study of eight paediatric patients who were treated between 1994 and 2016 at the University Hospital Zurich, Switzerland and the Royal Adelaide Hospital, Australia. Clinical records and imaging studies were reviewed. RESULTS: The mean age at presentation was 11 years (range: 6-17 years)...
November 16, 2017: British Journal of Ophthalmology
https://www.readbyqxmd.com/read/29140965/long-term-hearing-preservation-after-resection-of-vestibular-schwannoma-a-systematic-review-and-meta-analysis
#12
Syed F Ahsan, Farhan Huq, Michael Seidman, Andrew Taylor
OBJECTIVE: The objective is to perform a systematic review and meta-analysis of the literature on the long-term results of hearing preservation after vestibular schwannoma resection. DATA SOURCES: Ovid/Medline, PubMed, Embase, and the Cochrane library from January 1980 to January 2015. STUDY SELECTION: Inclusion criteria: age ≥18 years, minimum 10 patients in the treatment group, hearing preserving microsurgery, no previous radiation treatment, serviceable hearing at immediate postop follow-up, hearing outcomes reported using Gardner Robinson or the American Academy of Otolaryngology-Head and Neck Surgeons hearing grading scales, and average follow-up of 5 years...
December 2017: Otology & Neurotology
https://www.readbyqxmd.com/read/29125412/stereotactic-radiosurgery-for-jugular-foramen-schwannomas-an-international-multicenter-study
#13
Hideyuki Kano, Antonio Meola, Huai-Che Yang, Wan-Yuo Guo, Roberto Martínez-Alvarez, Nuria Martínez-Moreno, Dusan Urgosik, Roman Liscak, Or Cohen-Inbar, Jason Sheehan, John Y K Lee, Mahmoud Abbassy, Gene H Barnett, David Mathieu, Douglas Kondziolka, L Dade Lunsford
OBJECTIVE For some jugular foramen schwannomas (JFSs), complete resection is possible but may be associated with significant morbidity. Stereotactic radiosurgery (SRS) is a minimally invasive alternative or adjunct to microsurgery for JFSs. The authors reviewed clinical and imaging outcomes of SRS for patients with these tumors. METHODS Nine participating centers of the International Gamma Knife Research Foundation identified 92 patients who underwent SRS between 1990 and 2013. Forty-one patients had prior subtotal microsurgical resection...
November 10, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/29114437/magnetic-resonance-imaging-appearance-of-schwannomas-from-head-to-toe-a-pictorial-review
#14
Jamie Crist, Jacob R Hodge, Matthew Frick, Fiona P Leung, Eugene Hsu, Ming Tye Gi, Sudhakar K Venkatesh
Schwannomas are benign soft-tissue tumors that arise from peripheral nerve sheaths throughout the body and are commonly encountered in patients with neurofibromatosis Type 2. The vast majority of schwannomas are benign, with rare cases of malignant transformation reported. In this pictorial review, we discuss the magnetic resonance imaging (MRI) appearance of schwannomas by demonstrating a collection of tumors from different parts of the body that exhibit similar MRI characteristics. We review strategies to distinguish schwannomas from malignant soft-tissue tumors while exploring the anatomic and histologic origins of these tumors to discuss how this correlates with their imaging findings...
2017: Journal of Clinical Imaging Science
https://www.readbyqxmd.com/read/29114311/giant-cell-glioblastoma-in-a-child-with-clinical-and-family-history-of-neurofibromatosis
#15
Ishita Pant, Wajid Nazir, Vinita Ujjawal, Sujata Chaturvedi
We report a case of giant cell glioblastoma (GCG) in a 13-year-old child with clinical features and family history of neurofibromatosis type 1 (NF1). To the best of our knowledge, only two cases of GCG have been reported in a scenario of NF1, and only one of that was in a pediatric age group. A report on our case is presented here along with a review of literature.
October 2017: Asian Journal of Neurosurgery
https://www.readbyqxmd.com/read/29099382/-neurofibromas-in-the-urogenital-system-report-of-two-cases-and-literature-review
#16
María Asunción Costa-Martínez, Matías Prieto Vita, Liliana Elisabeth Garcés Proaño, Carlos Carro Rubias, Manuel Ángel Ortiz Gorraiz, Ernesto De Nova Sánchez
OBJECTIVE: We introduce two cases of a 46 and 66-year-old patient, both diagnosed with pelvic neurofibroma (One located in a seminal vesicle, the other in the bladder). The first patient had been diagnosed with Neurofibromatosis type 1 while the other was diagnosed with a sporadic neurofibroma. METHODS: During a study for lower urinary tract symptoms referred, these patients were diagnosed seminal vesicle and bladder neurofibroma, respectively, using image and histological tests...
November 2017: Archivos Españoles de Urología
https://www.readbyqxmd.com/read/29088993/an-update-on-the-diagnosis-and-treatment-of-vestibular-schwannoma
#17
Jane Halliday, Scott A Rutherford, Martin G McCabe, Dafydd G Evans
Vestibular schwannomas (VS) account for approximately 85% of tumors in the cerebello-pontine angle, with a lifetime incidence of approximately 1 in 1000. Most are sporadic, with approximately 5% related to the tumor predisposition syndrome Neurofibromatosis Type 2 (NF2). The mainstays of management strategies are: observation, surgery, radiosurgery/radiotherapy and, for patients with NF2 and rapidly growing tumors or deteriorating neurologic function the targeted therapy bevacizumab. While morbidity and mortality rates related to treatment of VS have improved dramatically over the last decades, there are still significant improvements that could be made, in particular with regards to long-term facial nerve and hearing outcomes...
November 7, 2017: Expert Review of Neurotherapeutics
https://www.readbyqxmd.com/read/29049269/long-term-surgical-outcomes-after-early-definitive-spinal-fusion-for-early-onset-scoliosis-with-neurofibromatosis-type-1-at-mean-follow-up-of-14-years
#18
Ryoji Tauchi, Noriaki Kawakami, Michael Anton Castro, Tetsuya Ohara, Toshiki Saito, Kazuaki Morishita, Ippei Yamauchi
BACKGROUND: Several authors mentioned surgical outcome for scoliosis associated with neurofibromatosis type 1 (NF-1). However, no studies have summarized long-term surgical outcomes after surgical treatment of early-onset scoliosis (EOS) with NF-1. The purpose of this study is to evaluate the long-term surgical outcome after early definitive spinal fusion for EOS in NF-1 patients. METHODS: We performed a retrospective review on a cohort of 11 patients diagnosed with EOS associated with NF-1 between 1990 and 2009 in our hospital...
October 18, 2017: Journal of Pediatric Orthopedics
https://www.readbyqxmd.com/read/29040209/inherited-and-acquired-clinical-phenotypes-associated-with-neuroendocrine-tumors
#19
Rory E Nicholaides, M Teresa de la Morena
PURPOSE OF REVIEW: Overview of neuroendocrine neoplasms in the context of their associations with primary and secondary immunodeficiency states. RECENT FINDINGS: Malignancies of neuroendocrine origin are well known to be associated with hereditary syndromes, including multiple endocrine neoplasia type 1, von Hippel-Lindau syndrome, neurofibromatosis type 1, and tuberous sclerosis. This review includes the X-linked form of hyper-IgM syndrome (XHIGM), due to mutations in the CD40Ligand gene (CD40LG), as an additional inherited disorder with susceptibility to such malignancies, and discusses neuroendocrine tumors (NETs) arising in other immunocompromised states...
December 2017: Current Opinion in Allergy and Clinical Immunology
https://www.readbyqxmd.com/read/29039258/diagnosis-and-treatment-of-laryngeal-schwannoma-a-systematic-review
#20
Michele Tulli, Stefano Bondi, Chanel Elisha Smart, Leone Giordano, Matteo Trimarchi, Andrea Galli, Davide Di Santo, Matteo Biafora, Mario Bussi
Objective This review summarizes the clinical features, diagnostic workup, and surgical treatment of laryngeal schwannoma with the aim of providing guidance for the management of this rare disease. The collated data allowed the statistical testing of several hypotheses, including the efficacy of endoscopic vs open surgical intervention and the usefulness of preoperative biopsy. Data Sources PubMed, Google Scholar, Cochrane, and SCOPUS. Review Methods Basic epidemiological and clinical presentation data were collated together with details of diagnostic image modality, lesion attributes, and the use of preoperative biopsy...
October 1, 2017: Otolaryngology—Head and Neck Surgery
keyword
keyword
120742
1
2
Fetch more papers »
Fetching more papers... Fetching...
Read by QxMD. Sign in or create an account to discover new knowledge that matter to you.
Remove bar
Read by QxMD icon Read
×

Search Tips

Use Boolean operators: AND/OR

diabetic AND foot
diabetes OR diabetic

Exclude a word using the 'minus' sign

Virchow -triad

Use Parentheses

water AND (cup OR glass)

Add an asterisk (*) at end of a word to include word stems

Neuro* will search for Neurology, Neuroscientist, Neurological, and so on

Use quotes to search for an exact phrase

"primary prevention of cancer"
(heart or cardiac or cardio*) AND arrest -"American Heart Association"