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Neurofibromatosis 1

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https://www.readbyqxmd.com/read/28735371/identifying-symptoms-of-distress-in-youth-living-with-neurofibromatosis-type-1-nf1
#1
Lori Wiener, Haven Battles, Sima Zadeh Bedoya, Andrea Baldwin, Brigitte C Widemann, Maryland Pao
Children and adolescents with Neurofibromatosis type 1 (NF1) are at increased risk for wide-ranging behavioral, developmental, and cognitive impairments and decreased quality of life. To date, no psychosocial screening tool has been developed to quickly assess the symptoms that 1) can be addressed during routine medical appointments in children with NF1, 2) can produce interpretable and actionable results, 3) can be integrated into medical care, and 4) can quickly identify patients at risk in order to better address that the provision of appropriate care are available...
July 23, 2017: Journal of Genetic Counseling
https://www.readbyqxmd.com/read/28735128/a-ct-based-comparison-of-abnormal-vertebrae-pedicles-between-dystrophic-and-nondystrophic-scoliosis-in-neurofibromatosis-type-1
#2
Ying Li, Ming Luo, Wengang Wang, Mingkui Shen, Genzhong Xu, Jianbo Gao, Lei Xia
OBJECTIVE: To explore the prevalence and distribution of abnormal vertebral pedicles in scoliosis secondary to neurofibromatosis type 1 (NF1-S) and to compare the abnormal vertebrae pedicles between dystrophic and nondystrophic scoliosis. METHODS: We carefully measured 2,652 vertebral pedicles from 56 NF1-S patients with dystrophic scoliosis and 22 NF1-S patients with nondystrophic scoliosis using CT images. Pedicle morphology was classified as follows: type A, a cancellous channel of > 4 mm; type B, a cancellous channel of 2 to 4 mm; type C, a cancellous channel of < 2 mm with an entirely cortical channel of ≥ 2 mm; type D, a cortical channel of < 2 mm; or type E, absent pedicle...
July 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28731398/management-of-multiple-meningiomas
#3
Georgios Tsermoulas, Mazda K Turel, Jared T Wilcox, David Shultz, Richard Farb, Gelareh Zadeh, Mark Bernstein
OBJECTIVE Multiple meningiomas account for 1%-10% of meningiomas. This study describes epidemiological aspects of the disease and its management, which is more challenging than for single tumors. METHODS A consecutive series of adult patients with ≥ 2 spatially separated meningiomas was reviewed. Patients with neurofibromatosis Type 2 were excluded. The authors collected clinical, imaging, histological, and treatment data to obtain information on epidemiology, management options, and outcomes of active treatment and surveillance...
July 21, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28725547/spatial-working-memory-in-neurofibromatosis-1-altered-neural-activity-and-functional-connectivity
#4
Amira F A Ibrahim, Caroline A Montojo, Kristen M Haut, Katherine H Karlsgodt, Laura Hansen, Eliza Congdon, Tena Rosser, Robert M Bilder, Alcino J Silva, Carrie E Bearden
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. The current study utilized Blood-Oxygen-Level-Dependent (BOLD) functional MRI (fMRI) to explore the neural correlates of spatial working memory (WM) deficits in patients with NF1. METHODS: BOLD images were acquired from 23 adults with NF1 (age M = 32...
2017: NeuroImage: Clinical
https://www.readbyqxmd.com/read/28721348/systematic-genetic-screening-in-a-prospective-group-of-danish-patients-with-pheochromocytoma
#5
Morten Steen Svarer Hansen, Niels Jacobsen, Anja Lisbeth Frederiksen, Lars Lund, Marianne Skovsager Andersen, Dorte Glintborg
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. In four of the 35 patients, a pathogenic variant was identified prior to the diagnosis of pheochromocytoma (von Hippel-Lindau disease, n=2; neurofibromatosis type 1, n=2)...
2017: Research and Reports in Urology
https://www.readbyqxmd.com/read/28713678/drug-development-against-the-hippo-pathway-in-mesothelioma
#6
REVIEW
Gavitt A Woodard, Yi-Lin Yang, Liang You, David M Jablons
Advances in the treatments for malignant pleural mesothelioma (MPM) have been disappointing until recently. Conventional cytotoxic drugs fail in MPM in part because they do not address the cancer stem cell population or stem cell pathways that drive tumor resistance and resurgence following treatment. The Hippo stem cell pathway regulates cell contact inhibition with tumor suppressor genes such as NF2 (Neurofibromatosis 2) upstream controlling YAP (Yes-associated protein 1) oncogenes. NF2 is mutated in 40-50% of all MPM and downstream YAP is constitutively active in greater than 70% of MPM, making the downstream YAP/TEAD (transcriptional enhancer associate domain) complex the ultimate target...
June 2017: Translational Lung Cancer Research
https://www.readbyqxmd.com/read/28706617/rare-presentation-of-neurofibromatosis-and-turner-syndrome-in-a-pediatric-patient
#7
Natalie Gengel, Ian Marshall
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.
June 26, 2017: Pediatric Reports
https://www.readbyqxmd.com/read/28705289/association-of-piebaldism-with-caf%C3%A3-au-lait-macules
#8
Naveen Kumar Kansal, Saurabh Agarwal
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). Three hyperpigmented lesions (café-au-lait macules [CALMs]) were also noted on the chest (Figure 1a)...
2017: Skinmed
https://www.readbyqxmd.com/read/28702341/severe-dyspnea-in-a-patient-with-neurofibromatosis-type-1
#9
P B Poble, J C Dalphin, B Degano
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. We describe here the case of a patient with NF1 admitted to our clinic with dyspnea and right heart failure revealing severe pre-capillary PH. Parenchymal lesions were mild and PH was attributed to pulmonary vascular involvement...
2017: Respiratory Medicine Case Reports
https://www.readbyqxmd.com/read/28694401/type-1-neurofibromatosis-complicated-by-pulmonary-arterial-hypertension-a-case-report
#10
Murathan Küçük, Can Ramazan Öncel, Mustafa Uçar, Aytül Belgi Yıldırım
Neurofibromatosis type I (NF1) is a rare genetic disease caused by mutations in the NF1 gene, which encodes the tumor suppressor neurofibromin. Precapillary pulmonary hypertension is a severe complication of NF1, initially described in patients with advanced parenchymal lung disease, which may complicate the course of NF1. Presently described is a case of neurofibromatosis complicated by pulmonary hypertension.
July 2017: Türk Kardiyoloji Derneği Arşivi: Türk Kardiyoloji Derneğinin Yayın Organıdır
https://www.readbyqxmd.com/read/28690538/cutaneous-neurofibroma-of-the-lacrimal-caruncule-a-case-report
#11
Mario Motta, Mauro Geller, Cesar Motta
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.
May 2017: Case Reports in Ophthalmology
https://www.readbyqxmd.com/read/28686121/surgical-and-molecular-considerations-in-the-treatment-of-pediatric-thalamopeduncular-tumors
#12
Ryan P Lee, Kimberly A Foster, Jock C Lillard, Paul Klimo, David W Ellison, Brent Orr, Frederick A Boop
OBJECTIVE Thalamopeduncular tumors are a group of pediatric low-grade gliomas that arise at the interface of the thalamus and brainstem peduncle. They typically occur within the first 2 decades of life, presenting with progressive spastic hemiparesis. Treatment strategies, including surgical intervention, have varied significantly. The authors present their experience in the treatment of 13 children, ages 2-15 years, with non-neurofibromatosis-related pilocytic astrocytomas located in the thalamopeduncular region...
July 7, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28686119/management-of-peripheral-nerve-sheath-tumors-17-years-of-experience-at-toronto-western-hospital
#13
Daipayan Guha, Benjamin Davidson, Mustafa Nadi, Naif M Alotaibi, Michael G Fehlings, Fred Gentili, Taufik A Valiante, Charles H Tator, Michael Tymianski, Abhijit Guha, Gelareh Zadeh
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...
July 7, 2017: Journal of Neurosurgery
https://www.readbyqxmd.com/read/28674264/a-rare-case-of-ulcerative-colitis-with-neurofibromatosis-type-1
#14
Shuhei Fukunaga, Hidetoshi Takedatsu, Keiichi Mitsuyama, Takuji Torimura
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...
July 3, 2017: Kurume Medical Journal
https://www.readbyqxmd.com/read/28666510/homocystinuria-hc-and-neurofibromatosis-type-1-nf-1-an-unusual-presentation-in-a-child
#15
Muhammad Amer Yaqub, Muhammad Saim Khan, Asad Habib
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. A9-year boy diagnosed case of HC along with other two siblings is reported here. He was referred by his paediatrician with decreased vision secondary to ectopia lentis...
November 2016: Journal of the College of Physicians and Surgeons—Pakistan: JCPSP
https://www.readbyqxmd.com/read/28664009/orbital-abducens-nerve-schwannoma-a-case-report-and-review-of-the-literature
#16
Yu Iida, Katsumi Sakata, Natsuki Kobayashi, Junya Tatezuki, Hiroshi Manaka, Takashi Kawasaki
Intraorbital schwannoma is a rare tumor which accounts for about 1-2% of all neoplasms of the orbit. Orbital schwannomas most commonly arise from the sensory branches of the trigeminal nerve. On the other hand, intraorbital abducens nerve schwannomas are extremely rare, with a search of the English literature identifying only four cases of intraorbital abducens nerve schwannoma. This is the 5th reported case of an orbital schwannoma arising from the terminal branch of the abducens nerve to the lateral rectus muscle...
October 2016: NMC Case Rep J
https://www.readbyqxmd.com/read/28658406/malignant-peripheral-nerve-sheath-tumor-with-and-without-neurofibromatosis-type-1
#17
Roberto André Torres de Vasconcelos, Pedro Guimarães Coscarelli, Regina Papais Alvarenga, Marcus André Acioly
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. A retrospective chart review was performed. The median age was 43.5 years (range, 3-84 years) and 55.4% were female; 41 patients (44.6%) had NF1-associated tumors...
June 2017: Arquivos de Neuro-psiquiatria
https://www.readbyqxmd.com/read/28650561/craniosynostosis-in-patients-with-rasopathies-accumulating-clinical-evidence-for-expanding-the-phenotype
#18
Kimiko Ueda, Masako Yaoita, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto
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...
June 26, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28646022/nf1-hematopoietic-cells-accelerate-malignant-peripheral-nerve-sheath-tumor-development-without-altering-chemotherapy-response
#19
Rebecca D Dodd, Chang-Lung Lee, Tess Overton, Wesley Huang, William C Eward, Lixia Luo, Yan Ma, Davis R Ingram, Keila E Torres, Diana M Cardona, Alexander Lazar, David G Kirsch
Haploinsufficiency in the tumor suppressor NF1 contributes to the pathobiology of type 1 neurofibromatosis, but a related role has not been established in malignant peripheral nerve sheath tumors (MPNST) where NF1 mutations also occur. Patients with NF1-associated MPNST appear to have worse outcomes than patients with sporadic MPNST, but the mechanism underlying this correlation is not understood. To define the impact of stromal genetics on the biology of this malignancy, we developed unique mouse models that reflect the genetics of patient-associated MPNST...
June 23, 2017: Cancer Research
https://www.readbyqxmd.com/read/28645674/does-spinal-deformity-correction-of-non-dystrophic-scoliosis-in-neurofibromatosis-type-1-with-one-stage-posterior-pedicle-screw-technique-produce-outcomes-similar-to-adolescent-idiopathic-scoliosis
#20
Qiunan Lyu, Chunguang Zhou, Yueming Song, Limin Liu, Lei Wang, Zhongjie Zhou
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...
June 20, 2017: Spine Journal: Official Journal of the North American Spine Society
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