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Neurofibromatosis + review

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https://www.readbyqxmd.com/read/29924299/the-rasopathy-family-consequences-of-germline-activation-of-the-ras-mapk-pathway
#1
Mylène Tajan, Romain Paccoud, Sophie Branka, Thomas Edouard, Armelle Yart
Noonan syndrome (NS; Mendelian Inheritance in Men (MIM) ♯163950) and related syndromes (Noonan syndrome with multiple lentigines (NS-ML, formerly called LEOPARD syndrome; MIM ♯151100), Noonan-like syndrome with loose anagen hair (NS-LAH; MIM ♯607721), Costello syndrome (CS; MIM ♯218040), Cardio-Facio-Cutaneous syndrome (CFCS; MIM ♯115150), type I Neurofibromatosis (NF1; MIM ♯162200), and Legius syndrome (LS; MIM ♯611431)) are a group of related genetic disorders, associating distinctive facial features, cardiopathies, growth and skeletal abnormalities, developmental delay/mental retardation, and tumor predisposition...
June 18, 2018: Endocrine Reviews
https://www.readbyqxmd.com/read/29923868/neurofibromatosis-type-2-related-eye-disease-correlated-with-genetic-severity-type
#2
Sally L Painter, Zuzana Sipkova, Beatrice Emmanouil, Dorothy Halliday, Allyson Parry, John S Elston
OBJECTIVE: Neurofibromatosis type 2 (NF2) is an uncommon but well-recognized disorder characterized by multiple schwannomas and meningiomas. Adults typically present with hearing loss and balance disturbance, and children with ocular, dermatological, and neurological signs. Clinical diagnosis is confirmed by neuroimaging and genetic testing. Although ophthalmic features are present in patients with NF2, there are no reports correlating genetic severity subtypes with ophthalmic involvement...
June 19, 2018: Journal of Neuro-ophthalmology: the Official Journal of the North American Neuro-Ophthalmology Society
https://www.readbyqxmd.com/read/29912000/neoplasms-of-the-neuroendocrine-pancreas-an-update-in-the-classification-definition-and-molecular-genetic-advances
#3
Julie M Guilmette, Vania Nosé
This review focuses on discussing the main modifications of the recently published 2017 WHO Classification of Neoplasms of the Neuroendocrine Pancreas (panNEN). Recent updates separate pancreatic neuroendocrine tumors into 2 broad categories: well-differentiated pancreatic neuroendocrine tumors (panNET) and poorly differentiated pancreatic neuroendocrine carcinoma (panNEC), and incorporates a new subcategory of "well-differentiated high-grade NET (G3)" to the well-differentiated NET category. This new classification algorithm aims to improve the prediction of clinical outcomes and survival and help clinicians select better therapeutic strategies for patient care and management...
June 14, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29902824/sporadic-schwannomatosis-a-systematic-review-following-the-2005-consensus-statement
#4
Gregoire Chick, Jan Victor, Thibault Poujade, Nadine Hollevoet
AIMS:  To identify the frequency of reports of sporadic schwannomatosis, the types of patients affected, and the nerves affected. PATIENTS AND METHODS:  We identified all case reports and case series that reported on patients with sporadic schwannomatosis according to established criteria. RESULTS:  The initial search yielded 1,597 studies, of which 15 were included. A total of 38 of 55 individuals met the inclusion criteria. The mean age of the patients was 48 years; 41% were male...
June 14, 2018: Journal of Neurological Surgery. Part A, Central European Neurosurgery
https://www.readbyqxmd.com/read/29902600/contralateral-hearing-loss-after-resection-of-vestibular-schwannoma-in-a-case-of-neurofibromatosis-type-2-case-report-and-literature-review
#5
Manjul Tripathi, Ayusman Satapathy, Ravi Bharatbhai Chauhan, Aman Batish, Sunil K Gupta
BACKGROUND: Resection of a vestibular schwannoma may result in facial paralyiss and hearing loss on the side of tumor. Authors have encountered a young female of neurofibromatosis type 2, who developed contralateral side sensorineural hearing loss immediately after resection of vestibular schwannoma.The patient regained partial hearing with a short course (2 months) of steroid therapy over 6 month. MATERIAL AND METHODS: Clinical, audiological, intraoperative events and radiological parameters were evaluated in this case...
June 11, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29889789/does-a-fundal-fluid-cap-predict-successful-hearing-preservation-in-vestibular-schwannoma-resections-via-the-middle-cranial-fossa-approach
#6
Daniel Q Sun, Raymond W Kung, Marlan R Hansen, Bruce J Gantz
OBJECTIVE: To determine the association between radiographic cerebrospinal fluid (CSF) cap in the lateral internal auditory canal (IAC) and likelihood of successful hearing preservation in middle cranial fossa (MCF) vestibular schwannoma (VS) surgery. STUDY DESIGN: Retrospective chart review. SETTING: Academic tertiary referral center. PATIENTS: One hundred thirty-eight consecutive patients (mean age/standard deviation, SD, 50/11 yr) who underwent MCF VS resection...
July 2018: Otology & Neurotology
https://www.readbyqxmd.com/read/29850420/syndromes-with-aortic-involvement-pictorial-review
#7
REVIEW
Evan J Zucker
A variety of syndromes are associated with thoracoabdominal aortic pathologies. While these diseases are collectively rare, the presence of advanced or unusual aortic disease at a young age should raise suspicion of an underlying syndrome. Similarly, patients with a known syndrome require close monitoring in anticipation of future aortic disease. In this article, the syndromes most commonly encountered in clinical practice are reviewed, including Marfan syndrome (MFS) and other connective tissue disorders, Turner syndrome (TS), autosomal dominant polycystic kidney disease (ADPKD), neurofibromatosis (NF), Williams syndrome (WS), Alagille syndrome (AGS), and DiGeorge syndrome (DGS)...
April 2018: Cardiovascular Diagnosis and Therapy
https://www.readbyqxmd.com/read/29849532/nonoperative-management-may-be-a-viable-approach-to-plexiform-neurofibroma-of-the-porta-hepatis-in-patients-with-neurofibromatosis-1
#8
Natesh Yepuri, Rana Naous, Camille Richards, Dilip Kittur, Ajay Jain, Mashaal Dhir
Background: Plexiform neurofibroma (PNF) in the porta hepatis (PH) is an unusual manifestation of neurofibromatosis-1 (NF-1). Resection is often recommended given the risk of malignant transformation. We encountered a challenging case in clinical practice which prompted us to report our findings and perform a systematic review on the management of these tumors. Methods: We reported the case of a 31-year-old woman with NF-1 and PNF of the PH. PRISMA 2009 guidelines were followed for systematic review...
2018: HPB Surgery: a World Journal of Hepatic, Pancreatic and Biliary Surgery
https://www.readbyqxmd.com/read/29797062/when-and-why-is-surgical-revascularization-indicated-for-the-treatment-of-moyamoya-syndrome-in-patients-with-rasopathies-a-systematic-review-of-the-literature-and-a-single-institute-experience
#9
REVIEW
Marcello Scala, Pietro Fiaschi, Valeria Capra, Maria Luisa Garrè, Domenico Tortora, Marcello Ravegnani, Marco Pavanello
BACKGROUND: Moyamoya disease (MMD) is a cerebrovascular disorder characterized by the progressive occlusion of the supraclinoid internal carotid artery (ICA), resulting in the formation of an abnormal cerebral vascular network. When MMD occurs in association with an underlying medical condition, including some distinctive genetic disorders, it is named moyamoya syndrome (MMS). The discrimination between MMD and MMS has been validated by recent genetic researches and international reviews...
May 24, 2018: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/29789890/surveillance-magnetic-resonance-imaging-for-isolated-optic-pathway-gliomas-is-gadolinium-necessary
#10
Ezekiel Maloney, A Luana Stanescu, Francisco A Perez, Ramesh S Iyer, Randolph K Otto, Sarah Leary, Lotte Steuten, Amanda I Phipps, Dennis W W Shaw
BACKGROUND: Pediatric optic pathway gliomas are typically indolent but have a variable clinical course. Treatment is dictated by symptoms and changes on contrast-enhanced MRI examinations. Gadolinium retention in children has motivated parsimonious use of gadolinium-based contrast agents. OBJECTIVES: To determine surveillance MR factors that motivate changes in tumor-directed therapies and extrapolate cost-efficacy of a non-contrast follow-up protocol. MATERIALS AND METHODS: Using an imaging database search we identified children with isolated optic pathway gliomas and ≥3 follow-up contrast-enhanced MRIs...
May 22, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29787982/neuroimaging-findings-of-extensive-sphenoethmoidal-dysplasia-in-nf1
#11
Allison Tam, Joseph M Sliepka, Sunil Bellur, Collin Douglas Bray, Christie M Lincoln, Sandesh C S Nagamani
Whereas isolated sphenoid wing dysplasia (SWD) is a well-known clinical feature in neurofibromatosis 1 (NF1), extensive cranial defects involving multiple bones have been rarely reported in this disorder. In this report, we describe the clinical course of a 20-year-old male with NF1 and an extensive cranial bone dysplasia. The large sphenoethmoidal defect was associated with transethmoidal and orbital cephalocele as well as inferolateral herniation of the frontal lobe. In spite of the large defect, the individual did not have any symptoms or complications resulting from the osteopathy...
May 16, 2018: Clinical Imaging
https://www.readbyqxmd.com/read/29780919/solitary-eyelid-neurofibroma-presenting-as-tarsal-cyst-report-of-a-case-and-review-of-literature
#12
Nisar Sonam Poonam, Md Shahid Alam, Dipankar Das, Jyotirmay Biswas
Purpose: To report a rare case of solitary eyelid neurofiboma presenting as tarsal cyst. Observation: A 64 year old male, presented with a painless, non progressive swelling in the right upper eye lid. Examination revealed a non tender, firm, mass adherent to the underlying tarsus. Excision via a conjunctival approach was performed and the histopathology was suggestive of neurofibroma. Immunohistochemistry was positive for Vimentin and focally positive for S-100...
June 2018: American Journal of Ophthalmology Case Reports
https://www.readbyqxmd.com/read/29770149/diffuse-gastric-ganglioneuromatosis-novel-presentation-of-pten-hamartoma-syndrome-case-report-and-review-of-gastric-ganglioneuromatous-proliferations-and-a-novel-pten-gene-mutation
#13
Alexander J Williams, Emily S Doherty, Michael H Hart, Douglas J Grider
Gastrointestinal ganglioneuromatous proliferations are rare, most often found in the colon, and are three types: polypoid ganglioneuromas, ganglioneuromatous polyposis, and diffuse ganglioneuromatosis. We present a case of diffuse ganglioneuromatosis in the posterior gastric wall in a nine-year-old female. To our knowledge, this is the first reported case of diffuse ganglioneuromatosis located in the stomach. Only six cases of gastric ganglioneuromatous proliferations have previously been reported, two in English and none were diffuse ganglioneuromatosis...
2018: Case Reports in Medicine
https://www.readbyqxmd.com/read/29768331/the-value-of-18f-fdg-pet-ct-in-patient-with-neurofibromatosis-type-1-a-case-report-and-literature-review
#14
Jiazhong Ren, Guoren Yang, Jing Zhou, Zheng Fu
RATIONALE: Neurofibromatosis type one (NF1) is characterized by cutaneous and nervous lesions, and the tendency to form plexiform neurofibromas (PNFs). PNFs may undergo malignant transformation into a malignant peripheral nerve sheath tumors (MPNSTs). MPNSTs often carry an significant morbidity and mortality. PATIENT CONCERNS: A 17-year-old man with gradually increased multiple subcutaneous soft lesions. He also presented with numerous lentigines and multiple café-au-lait macules on his body...
May 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29762338/incidence-and-risk-factors-for-instrumentation-related-complications-after-scoliosis-surgery-in-pediatric-patients-with-nf-1
#15
Ziming Yao, Hao Li, Xuejun Zhang, Chengxin Li, Xinyu Qi
STUDY DESIGN: Retrospective cohort study. OBJECTIVE: To assess the incidence and risk factors of instrumentation-related complication (IRC) in pediatric patients surgically treated for neurofibromatosis type 1 (NF-1) dystrophic scoliosis. SUMMARY OF BACKGROUND DATA: Surgical management including growing rods technique and early definitive fusion has been recommended to avoid progression of NF-1 scoliosis. However, no study has yet investigated the incidence and risk factors of IRC in these surgical interventions...
May 14, 2018: Spine
https://www.readbyqxmd.com/read/29762158/recent-advances-in-the-diagnosis-and-pathogenesis-of-neurofibromatosis-type-1-nf1-associated-peripheral-nervous-system-neoplasms
#16
Jody F Longo, Shannon M Weber, Brittany P Turner-Ivey, Steven L Carroll
The diagnosis of a neurofibroma or a malignant peripheral nerve sheath tumor (MPNST) often raises the question of whether the patient has the genetic disorder neurofibromatosis type 1 (NF1) as well as how this will impact the patient's outcome, what their risk is for developing additional neoplasms and whether treatment options differ for NF1-associated and sporadic peripheral nerve sheath tumors. Establishing a diagnosis of NF1 is challenging as this disorder has numerous neoplastic and non-neoplastic manifestations which are variably present in individual patients...
May 4, 2018: Advances in Anatomic Pathology
https://www.readbyqxmd.com/read/29761250/sarcoma-in-neurofibromatosis-2-case-report-and-review-of-the-literature
#17
C Linder, M J Smith, M Bulman, A Wallace, A J Freemont, D C Mangham, D G R Evans
Neurofibromatosis type 2 (NF2) is associated with the development of several types of benign nervous system tumours, while malignancies are rare. We report a 22-year-old man who presented with retroperitoneal and spinal high-grade sarcomas with epithelial features. Samples showed a mixed epithelioid and spindled cell content with little associated matrix and inconclusive immunochemistry. Genetic analysis of a schwannoma and matched blood samples demonstrated a constitutional de novo substitution at the splice donor site of intron 8 of the NF2 gene and aa acquired large deletion of the entire NF2 gene as a second hit, with some loss of SMARCB1...
May 14, 2018: Familial Cancer
https://www.readbyqxmd.com/read/29753078/isolated-pediatric-intramedullary-schwannoma-case-report-and-review-of-the-literature
#18
Alessandro Landi, Giovanni Grasso, Fabrizio Gregori, Giorgia Iacopino, Andrea Ruggeri, Roberto Delfini
BACKGROUND: Intramedullary (IM) schwannomas are rare entities representing the 0.3-1% of intramedullary tumors and 1.1% of spinal schwannomas. Beside many theories proposed, their rare occurrence might be related to the absence of Schwann cells into the spinal cord. Pediatric IM schwannomas are uncommon and in absence of neurofibromatosis (NF) they are extremely rare. To date, very few cases have been reported in the literature. CASE DESCRIPTION: We describe the case of a 8 year-old female affected by a progressive paraparesis...
May 9, 2018: World Neurosurgery
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#19
REVIEW
L Dard, N Bellance, D Lacombe, R Rossignol
The RAS pathway is a highly conserved cascade of protein-protein interactions and phosphorylation that is at the heart of signalling networks that govern proliferation, differentiation and cell survival. Recent findings indicate that the RAS pathway plays a role in the regulation of energy metabolism via the control of mitochondrial form and function but little is known on the participation of this effect in RAS-related rare human genetic diseases. Germline mutations that hyperactivate the RAS pathway have been discovered and linked to human developmental disorders that are known as RASopathies...
May 8, 2018: Biochimica et Biophysica Acta
https://www.readbyqxmd.com/read/29745267/pilocytic-astrocytoma-with-spontaneous-malignant-transformation-with-intracranial-and-skeletal-dissemination-case-report-and-review-of-the-literature
#20
Subhas K Konar, B N Nandeesh, M Sandhya, N Chandana, B Indira Devi, Dhananjaya I Bhat
Pilocytic astrocytoma is a benign low-grade tumor with a favorable prognosis. We present a 47-year-old- lady with a posterior fossa pilocytic astrocytoma who underwent surgical decompression. She developed multiple early local recurrences Along with malignant transformation of the cranial lesion she developed skeletal dissemination within a very short time frame. There were no features or family history of neurofibromatosis 1. She did not receive radiotherapy or chemotherapy prior to the recurrences.
May 10, 2018: British Journal of Neurosurgery
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