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Neurofibromatosis + review

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https://www.readbyqxmd.com/read/27908211/pheochromocytoma-in-neurofibromatosis-type-1-during-pregnancy
#1
Pablo Remón-Ruiz, Alberto Aliaga-Verdugo, Raquel Guerrero-Vázquez
Pregnant women with neurofibromatosis type 1 (NF-1) have increased complications during gestation, including hypertensive disorders that are sometimes caused by pheochromocytoma. Pheochromocytoma is an extremely rare condition during pregnancy, and the main clinical manifestation is hypertension. If not properly treated, pheochromocytoma has high maternal and fetal mortality rates. Early recognition and adequate clinical management before delivery have led to better outcomes in the last few decades. Despite the association of NF-1 and pheochromocytoma, there are few clinical reports of these two conditions in pregnant patients...
December 2, 2016: Gynecological Endocrinology
https://www.readbyqxmd.com/read/27904856/primary-hepatic-malignant-peripheral-nerve-sheath-tumor-successfully-treated-with-combination-therapy-a-case-report-and-literature-review
#2
Hae Il Jung, Hyoung Uk Lee, Tae Sung Ahn, Jong Eun Lee, Hyun Yong Lee, Hyon Doek Cho, Sang Cheol Lee, Sang Ho Bae
Primary malignant peripheral nerve sheath tumor (MPNST) in a young female patient, not associated with neurofibromatosis type-I is extremely rare in the liver. A 33-year-old female was admitted with a right flank pain for a weak. The CT scan showed 12.5-cm-sized mass located at the right hepatic lobe. At laparotomy, about 20.0-cm-sized mass was on the right hepatic lobe with attachment to right diaphragmatic pleura. Right hepatic lobe and adherent part of diaphragmatic pleura were resected. On histology and immunohistochemistry, it was diagnosed MPNST...
December 2016: Annals of Surgical Treatment and Research
https://www.readbyqxmd.com/read/27900489/an-association-of-peripheral-nerve-sheath-tumors-and-lipomas
#3
Mohamed A Elsherif, Dusica Babovic-Vuksanovic, Robert J Spinner
BACKGROUND: We noticed the coexistence of peripheral nerve sheath tumors (PNST) with lipomas within a subgroup of our patients. Given the prevalence of lipomas in the general population, we sought to investigate the extent of coexistence of the two entities aiming at uncovering any plausible association between both. METHODS: A retrospective review of all peripheral nerve sheath tumors (sporadic and syndromic forms) treated by a single surgeon between January 2009 and August 2015 was done...
November 30, 2016: Acta Neurochirurgica
https://www.readbyqxmd.com/read/27889578/molecular-neurobiology-of-mtor
#4
REVIEW
Katarzyna Switon, Katarzyna Kotulska, Aleksandra Janusz-Kaminska, Justyna Zmorzynska, Jacek Jaworski
Mammalian/mechanistic target of rapamycin (mTOR) is a serine-threonine kinase that controls several important aspects of mammalian cell function. mTOR activity is modulated by various intra- and extracellular factors; in turn, mTOR changes rates of translation, transcription, protein degradation, cell signaling, metabolism, and cytoskeleton dynamics. mTOR has been repeatedly shown to participate in neuronal development and the proper functioning of mature neurons. Changes in mTOR activity are often observed in nervous system diseases, including genetic diseases (e...
November 23, 2016: Neuroscience
https://www.readbyqxmd.com/read/27876659/surgical-treatment-for-patients-with-moyamoya-syndrome-and-type-1-neurofibromatosis
#5
Jose L Porras, Wuyang Yang, Tomas Garzon-Muvdi, Risheng Xu, Jaishri Blakeley, Allan Belzberg, Justin M Caplan, Syed Khalid, Geoffrey P Colby, Alexander L Coon, Rafael J Tamargo, Edward S Ahn, Judy Huang
INTRODUCTION: The current study describes the impact of surgery in preventing follow-up ipsilateral TIAs/strokes in an East Coast North American cohort of patients with both moyamoya syndrome (MMS) and neurofibromatosis type 1 (NF1) (MMS-NF1). METHODS: We retrospectively reviewed records of patients with MMS and NF1 at the Johns Hopkins Medical Institutions from 1990-2014. Baseline characteristics and follow-up results including subsequent ipsilateral strokes were collected, and compared between a revascularization group (group1) and a conservatively managed group (group2) on a per-hemisphere basis...
November 19, 2016: World Neurosurgery
https://www.readbyqxmd.com/read/27867327/unusual-glomus-tumor-of-the-penis
#6
REVIEW
Gautam Dagur, Kelly Warren, Yimei Miao, Navjot Singh, Yiji Suh, Sardar A Khan
INTRODUCTION: Glomus tumors are benign neoplasms commonly found in subungual regions of the extremities and rarely located in the penis. Misdiagnosis of glomus tumors is common; therefore, symptoms and clinical presentations should be reviewed. OBJECTIVE: The primary objective of this review article is to emphasize the pathogenesis, pathology, clinical presentation, symptoms, diagnosis, and treatment methods of glomus tumors in order to better identify and manage the condition...
October 2016: Current Urology
https://www.readbyqxmd.com/read/27831994/pseudarthrosis-repair-using-autologous-cultured-osteoblasts-in-complex-type-1-neurofibromatosis-spinal-deformity-a-case-report-and-review-of-the-literature
#7
Young-Hoon Kim, Genriech N Reoyan, Kee-Yong Ha, Chul-Kyu Kim
STUDY DESIGN: A case report and literature review. OBJECTIVE: To report a late dislocation of the vertebra caused by progressive dural ectasia combined with type-1 neurofibromatosis (NF-1) and the clinical results of pseudarthrosis repairs using autologous cultured osteoblasts. SUMMARY OF BACKGROUND DATA: NF-1 is a well-known genetic disorder that is commonly characterized by spinal deformities including kyphoscoliosis. Late dislocation of the vertebra resulting from progressive dural ectasia after surgical correction of NF-1 scoliosis is a very rare occurrence, and pseudarthrosis frequently develops after surgical intervention for this complex spinal deformity...
November 15, 2016: Spine
https://www.readbyqxmd.com/read/27831970/spontaneous-closure-of-a-macular-hole-after-four-failed-vitrectomies-in-the-setting-of-nf-1
#8
Kendall W Wannamaker, Robert A Sharpe, Jan A Kylstra
PURPOSE: To present the case of a patient who developed spontaneous closure of an idiopathic macular hole after four failed attempts at surgical closure. METHODS: This is a retrospective case review of the medical record of a single patient. No statistical analysis was performed. The patient is a 71-year-old white woman with neurofibromatosis Type 1 who presented to the retina clinic of one of the authors. RESULTS: The patient underwent four vitrectomies with long acting gas by two surgeons over the course of 2 years...
November 9, 2016: Retinal Cases & Brief Reports
https://www.readbyqxmd.com/read/27816720/multivacuolated-mucin-filled-cells-a-unique-cell-characteristic-of-plexiform-neurofibroma-a-report-of-11-cases
#9
Michael Michal, Dmitry V Kazakov, Ladislav Hadravský, Květoslava Michalová, Boris Rychlý, Michal Michal
The authors present 11 cases of plexiform neurofibroma (PN) that featured a very characteristic type of cell appearing as multivacuolated mucin-filled cells (MMFC). The 11 cases were obtained after reviewing 109 cases of PN. Six out of 10 patients showed clinical features of neurofibromatosis type 1 (NF1). The size of PN ranged from 0.8 cm to 11.5 cm in the largest dimension. The lesions represented classical PN in all cases with myxoid, hypocellular stroma. The MMFC were found within the most myxoid tumorous nodules and were haphazardly located, typically featuring a variably sized, multivacuolated cytoplasm divided by a fine septa with a small polygonal nucleus on one side, which was often compressed or slightly indented by the cytoplasmic mucous substances...
November 2, 2016: Human Pathology
https://www.readbyqxmd.com/read/27815599/tumor-segmentation-of-whole-body-magnetic-resonance-imaging-in-neurofibromatosis-type-1-patients-tumor-burden-correlates
#10
Michael A Heffler, Lu Q Le, Yin Xi, Avneesh Chhabra
OBJECTIVE: Segmentation of whole-body MRI (WBMRI) to assess the feasibility, quantitate the total tumor volume (tumor burden) in patients with neurofibromatosis type 1 (NF1) and examine associations with demographic, disease-related and anthropomorphic features. METHODS: A consecutive series of patients with NF1 underwent WBMRI and were reviewed for tumors. Tumors were segmented using a semiautomated software-based tool. Tumors were classified as superficial or deep and discrete or plexiform...
November 4, 2016: Skeletal Radiology
https://www.readbyqxmd.com/read/27807120/outcomes-of-spinal-fusion-for-cervical-kyphosis-in-children-with-neurofibromatosis
#11
Ilkka J Helenius, Paul D Sponseller, William Mackenzie, Thierry Odent, John P Dormans, Jahangir Asghar, Karl Rathjen, Joshua M Pahys, Firoz Miyanji, Daniel Hedequist, Jonathan H Phillips
BACKGROUND: Cervical kyphosis may occur with neurofibromatosis type I (NF1) and is often associated with vertebral dysplasia. Outcomes of cervical spinal fusion in patients with NF1 are not well described because of the rarity of the condition. We aimed to (1) characterize the clinical presentation of cervical kyphosis and (2) report the outcomes of posterior and anteroposterior cervical fusion for the condition in these children. METHODS: The medical records and imaging studies of 22 children with NF1 who had undergone spinal fusion for cervical kyphosis (mean, 67°) at a mean age of 11 years and who had been followed for a minimum of 2 years were reviewed...
November 2, 2016: Journal of Bone and Joint Surgery. American Volume
https://www.readbyqxmd.com/read/27796735/toxicity-profile-of-bevacizumab-in-the-uk-neurofibromatosis-type-2-cohort
#12
Katrina A Morris, John F Golding, Claire Blesing, D Gareth Evans, Rosalie E Ferner, Karen Foweraker, Dorothy Halliday, Raj Jena, Catherine McBain, Martin G McCabe, Angela Swampillai, Nicola Warner, Shaun Wilson, Allyson Parry, Shazia K Afridi
Bevacizumab is considered an established part of the treatment strategies available for schwannomas in patients with Neurofibromatosis type 2 (NF2). In the UK, it is available through NHS National Specialized Commissioning to NF2 patients with a rapidly growing target schwannoma. Regrowth of the tumour on suspension of treatment is often observed resulting in prolonged periods of exposure to bevacizumab to control the disease. Hypertension and proteinuria are common events with bevacizumab use and there are concerns with regards to the long-term risks of prolonged treatment...
October 28, 2016: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/27787920/phaeochromocytomas-are-diagnosed-incidentally-and-at-older-age-in-neurofibromatosis-type-1
#13
Jessica Moramarco, Nada El Ghorayeb, Nadine Dumas, Serge Nolet, Luce Boulanger, Nelly Burnichon, André Lacroix, Zaki Elhaffaf, Anne-Paule Gimenez Roqueplo, Pavel Hamet, Isabelle Bourdeau
INTRODUCTION: Guidelines do not currently recommend routine systematic hormonal screening for phaeochromocytoma (PHEO) in all/normotensive patients with Neurofibromatosis type 1 (NF1), in contrast to other PHEO predisposing genetic syndromes such as Von Hippel Lindau syndrome and Multiple endocrine neoplasia type 2. OBJECTIVES: To characterise and compare parameters of PHEO in NF1 patients to patients with or without other germline mutations. METHODS: Retrospective chart review of patients with histologically proven PHEO at the Centre Hospitalier de l'Université de Montréal from 2000 through 2015...
October 27, 2016: Clinical Endocrinology
https://www.readbyqxmd.com/read/27764513/heterogeneity-of-histopathological-presentation-of-pilocytic-astrocytoma-diagnostic-pitfalls-a-review
#14
E Matyja, W Grajkowska, K Stępień, E Naganska
Pilocytic astrocytomas (PAs) are the most frequent primary astroglial tumours affecting children and adolescents. They occur sporadically or in association with a genetically determined syndrome - neurofibromatosis type 1. Classic PA usually manifests as a well-circumscribed, often cystic, slowly growing tumour, which corresponds to WHO grade I. The majority of pilocytic tumours arise along the neuraxis, predominantly in the cerebellum. They are associated with favourable long-term outcome or spontaneous regression, even after incomplete resection...
2016: Folia Neuropathologica
https://www.readbyqxmd.com/read/27755361/tinnitus-suppression-after-auditory-brainstem-implantation-in-patients-with-neurofibromatosis-type-2
#15
Daniel S Roberts, Steve Otto, Brian Chen, Kevin A Peng, Marc S Schwartz, Derald E Brackmann, John W House
OBJECTIVE: To evaluate whether an auditory brainstem implant (ABI) can impact levels of tinnitus in neurofibromatosis type-2 (NF2) patients who have undergone translabyrinthine craniotomy for vestibular schwannoma (VS) removal and to evaluate the burden of tinnitus in these patients. STUDY DESIGN: A retrospective case series and patient survey. SETTING: Tertiary neurotologic referral center. PATIENTS: NF2 patients who underwent translabyrinthine removal of VS and ABI placement between 1994 and 2015...
October 12, 2016: Otology & Neurotology
https://www.readbyqxmd.com/read/27743245/a-review-of-the-genetics-of-intracranial-berry-aneurysms-and-implications-for-genetic-counseling
#16
Emma Hitchcock, William T Gibson
Here we review the current understanding of the genetic architecture of intracranial berry aneurysms (IBA) to aid in the genetic counseling of patients at risk for this condition. The familial subtype of IBA, familial intracranial aneurysms (FIA), is associated with increased frequency of IBA, increased risk of rupture, and increased morbidity and mortality after rupture. Family history is the strongest predictor for the development of IBA. However, a genetic test is not yet available to assess risk within a family...
October 14, 2016: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/27739187/a-marfan-syndrome-like-phenotype-caused-by-a-neocentromeric-supernumerary-ring-chromosome-15
#17
Shane C Quinonez, Thomas D Gelehrter, Wendy R Uhlmann
Small supernumerary marker chromosomes (sSMC) are abnormal chromosomes that cannot be characterized by standard banding cytogenetic techniques. A minority of sSMC contain a neocentromere, which is an ectopic centromere lacking the characteristic alpha-satellite DNA. The phenotypic manifestations of sSMC and neocentromeric sSMC are variable and range from severe intellectual disability and multiple congenital anomalies to a normal phenotype. Here we report a patient with a diagnosis of Marfan syndrome and infertility found to have an abnormal karyotype consisting of a chromosome 15 deletion and a ring-type sSMC likely stabilized by a neocentromere derived via a mechanism initially described by Barbara McClintock in 1938...
October 14, 2016: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27720200/facial-nerve-schwannomas-review-of-80-cases-over-25-years-at-mayo-clinic
#18
Matthew L Carlson, Nicholas L Deep, Neil S Patel, Larry B Lundy, Nicole M Tombers, Christine M Lohse, Michael J Link, Colin L Driscoll
OBJECTIVE: To elucidate the long-term clinical behavior, treatment, and outcomes of sporadic facial nerve schwannoma (FNS) in a large cohort of patients managed in the post-magnetic resonance imaging era. PATIENTS AND METHODS: Retrospective review at a single tertiary health care system (January 1, 1990, through December 31, 2015), evaluating 80 consecutive patients with sporadic FNS. RESULTS: Ninety-eight patients with FNS were identified; 10 with incomplete data and 8 with neurofibromatosis type 2 were excluded...
October 5, 2016: Mayo Clinic Proceedings
https://www.readbyqxmd.com/read/27696205/gastric-plexiform-schwannoma-in-association-with-neurofibromatosis-type-2
#19
Satoru Kudose, Michael Kyriakos, Michael Magdi Awad
: Plexiform schwannoma (PS) is an uncommon variant of schwannoma characterized by a multinodular (plexiform) growth pattern. It comprises up to 5 % of all schwannomas. The association between PS and neurofibromatosis type 1 or type 2 (NF1/NF2) is only rarely reported. Most cases of PS occur in the skin and subcutaneous soft tissue, with only a few reports of digestive tract involvement. We describe an 18-year-old male with NF2 who had bilateral vestibular schwannomas and multiple cutaneous PSs, and a 3-year history of abdominal pain...
September 30, 2016: Clinical Journal of Gastroenterology
https://www.readbyqxmd.com/read/27666661/molecular-screening-strategies-for-nf1-like-syndromes-with-caf%C3%A3-au-lait-macules-review
#20
Jia Zhang, Ming Li, Zhirong Yao
Multiple café-au-lait macules (CALM) are usually associated with neurofibromatosis type 1 (NF1), one of the most common hereditary disorders. However, a group of genetic disorders presenting with CALM have mutations that are involved in human skin pigmentation regulation signaling pathways, including KIT ligand/KIT proto‑oncogene receptor tyrosine kinase and Ras/mitogen‑activated protein kinase. These disorders, which include Legius syndrome, Noonan syndrome with multiple lentigines or LEOPARD syndrome, and familial progressive hyperpigmentation) are difficult to distinguish from NF1 at early stages, using skin appearance alone...
November 2016: Molecular Medicine Reports
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