keyword
MENU ▼
Read by QxMD icon Read
search

Neurofibromatosis type 1

keyword
https://www.readbyqxmd.com/read/29774626/analysis-of-intra-tumor-heterogeneity-in-neurofibromatosis-type-1-plexiform-neurofibromas-and-neurofibromas-with-atypical-features-correlating-histological-and-genomic-findings
#1
Meritxell Carrió, Bernat Gel, Ernest Terribas, Adriana Carolina Zucchiatti, Teresa Moliné, Inma Rosas, Álex Teulé, Santiago Ramón Y Cajal, Juan Carlos López-Gutiérrez, Ignacio Blanco, Elisabeth Castellanos, Conxi Lázaro, Anat Stemmer-Rachamimov, Cleofé Romagosa, Eduard Serra
Plexiform neurofibromas (PNFs) are benign peripheral nerve sheath tumors involving large nerves present in 30-50% Neurofibromatosis type 1 (NF1) patients. Atypical neurofibromas (ANF) are distinct nodular lesions with atypical features on histology that arise from PNFs. The risk and timeline of malignant transformation in ANF is difficult to assess. A recent NIH workshop has stratified ANFs and separated a subgroup with multiple atypical features and higher risk of malignant transformation termed atypical neurofibromatous neoplasms with uncertain biological potential (ANNUBP)...
May 17, 2018: Human Mutation
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
#2
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
#3
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/29766709/two-sisters-with-neurofibromatosis-type-1-and-celiac-disease
#4
Teresa Lopez, Emanuele Miraglia, Stefano Calvieri, Sandra Giustini
No abstract text is available yet for this article.
June 2018: Giornale Italiano di Dermatologia e Venereologia: Organo Ufficiale, Società Italiana di Dermatologia e Sifilografia
https://www.readbyqxmd.com/read/29766345/visual-function-assessed-by-visually-evoked-potentials-in-optic-pathway-low-grade-gliomas-with-and-without-neurofibromatosis-type-1
#5
Patrícia de Freitas Dotto, Adriana Berezovsky, Andrea Maria Cappellano, Nasjla Saba da Silva, Paula Yuri Sacai, Frederico Adolfo B Silva, Arthur Gustavo Fernandes, Daniel Martins Rocha, Solange Rios Salomão
PURPOSE: To investigate the contribution of full-field transient pattern-reversal visually evoked potentials (PRVEP) on cross-sectional evaluations of visual function in patients with and without neurofibromatosis type 1 (NF1) affected by optic pathway low-grade gliomas (OPLGG). METHODS: Participants were children and adolescents referred for visual function evaluation and receiving treatment for OPLGG, linked (NF1-OPLGG) or not to NF1 (Non-NF1-OPLGG). An age-adjusted control group was included for comparison...
May 15, 2018: Documenta Ophthalmologica. Advances in Ophthalmology
https://www.readbyqxmd.com/read/29764827/not-so-mass-effect-finding-of-a-remarkable-incidentaloma-in-a-teenager-with-neurofibromatosis
#6
Daniel John Keen, Hannah Norman-Bruce, Salah Mansy
A 13-year-old boy with neurofibromatosis type 1 presented to the emergency department twice in a fortnight with moderate intermittent abdominal pain, radiating to the back and associated with nausea and vomiting. He examined as a well child with a soft abdomen and minimal tenderness. A history of constipation was identified but he failed to respond to a trial of laxatives. Subsequent ultrasound abdomen demonstrated a large mass surrounding the porta hepatis. MRI further characterised a focal, non-aggressive lesion extending from his liver, encapsulating his pancreas, portal vessels and laterally displacing his spleen and left kidney...
May 14, 2018: BMJ Case Reports
https://www.readbyqxmd.com/read/29764701/a-combination-of-skeletal-deformations-of-the-dorsal-mandible-and-temporomandibular-region-detected-in-orthopantomograms-of-patients-with-neurofibromatosis-type-1-indicates-an-associated-ipsilateral-plexiform-neurofibroma
#7
Reinhard E Friedrich, Anika Reul
PURPOSE: Neurofibromatosis type 1 (NF1) is a tumour suppressor syndrome and also a bone disease. In the craniofacial region, local skeletal deformities have been recorded in patients with NF1. Obvious syndrome-related alterations of the jaws are particularly conspicuous in the mandible. Here we aimed to analyse the mandibular alterations of NF1-affected individuals from orthopantomograms (OPGs). MATERIALS AND METHODS: This study analyses 358 OPGs of 358 patients (mean age, 34...
April 26, 2018: Journal of Cranio-maxillo-facial Surgery
https://www.readbyqxmd.com/read/29762338/incidence-and-risk-factors-for-instrumentation-related-complications-after-scoliosis-surgery-in-pediatric-patients-with-nf-1
#8
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
#9
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/29754292/investigation-of-retinal-nerve-fiber-layer-thickness-and-ganglion-cell-layer-inner-plexiform-layer-thickness-in-patients-with-optic-pathway-gliomas
#10
Mustafa Hepokur, Ahmet Murat Sarici
PURPOSE: This study aimed to compare the optical coherence tomography (OCT) findings of optic pathway glioma (OPG) patients (sporadic or secondary to neurofibromatosis type 1, NF1) with NF1 without OPG patients and healthy controls. METHODS: This was a prospective, case-control study in which 27 patients (13 with OPGs and 14 with NF1 without OPGs) and 13 control subjects were included. The retinal nerve fiber layer (RNFL) thickness, macular thickness, and ganglion cell layer-inner plexiform layer (GCL-IPL) thickness findings measured using OCT and the results were compared between the groups...
May 12, 2018: Graefe's Archive for Clinical and Experimental Ophthalmology
https://www.readbyqxmd.com/read/29750912/ras-signalling-in-energy-metabolism-and-rare-human-diseases
#11
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/29743742/the-role-of-imaging-in-diagnosing-an-unusual-manifestation-of-neurofibromatosis-type-1-calvarial-dysplasia
#12
Felipe Welter Langer, Daniel Mattos, Camila Piovesan Wiethan, Rafael Martins Scherer, Carlos Jesus Pereira Haygert
No abstract text is available yet for this article.
March 2018: Radiologia Brasileira
https://www.readbyqxmd.com/read/29738061/use-of-ultrasound-guided-supraclavicular-brachial-plexus-block-as-an-anesthesia-technique-in-a-patient-with-neurofibromatosis-type-1-a-case-report
#13
Emine Aysu Şalvız, Emre Sertaç Bingül, Meltem Savran Karadeniz, Ömer Berköz, Erman Ak, Kamil Mehmet Tuğrul
Neurofibromatosis type 1 is an autosomal dominant condition characterized by cutaneous and/or plexiform neurofibromas and hyperpigmented café-au-lait spots. It affects multiple endocrine and visceral organs and can be associated with several difficulties such as potential airway (ventilation/intubation) problems, abnormal spinal anatomy, and peripheral neurofibromas. Therefore, anesthesia technique selection becomes more of an issue in terms of avoiding complications and decreasing morbidity and mortality...
April 2018: Aǧrı: Ağrı (Algoloji) Derneği'nin Yayın Organıdır, the Journal of the Turkish Society of Algology
https://www.readbyqxmd.com/read/29736289/the-rare-togetherness-of-bladder-leiomyoma-and-neurofibromatosis
#14
Cem Yucel, Salih Budak, Erdem Kisa, Orcun Celik, Zafer Kozacioglu
Neurofibromatosis Type 1 (Von Recklinghausen disease) is a common, autosomal dominant hereditary disorder characterized by involvement of multiple tissues derived from the neural crest. Urinary system involvement in neurofibromatosis is a rare condition. Leiomyoma of the bladder is a rare benign mesenchymal tumor. In this case, our experience and approach regarding the bladder leiomyoma development in a patient diagnosed with neurofibromatosis are presented and the literature data has been reviewed.
2018: Case Reports in Urology
https://www.readbyqxmd.com/read/29731861/analysis-of-yap1-and-taz-expression-by-immunohistochemical-staining-in-malignant-mesothelioma-and-reactive-mesothelial-cells
#15
Yusuke Takehara, Toshiko Yamochi, Tasuku Nagumo, Tomonari Cho, Fumihiko Urushibara, Kohei Ono, Tomonori Fujii, Naoko Okamoto, Yosuke Sasaki, Sakiko Tazawa, Mayumi Honma, Tomoko Norose, Eisuke Shiozawa, Genshu Tate, Masafumi Takimoto
Gene mutations are involved in the development of malignant mesothelioma. Important mutations have been identified in the genes for cyclin-dependent kinase inhibitor 2A (p16) alternative reading frame, breast cancer-associated protein 1 ( BAP1 ) and neurofibromatosis type 2 ( NF2 ). Previously, the utility of detecting the loss of BAP1 by immunohistochemistry (IHC) and p16-deletion by fluorescence in situ hybridization has been identified in several studies. However, NF2 -associated examinations have not been performed...
May 2018: Oncology Letters
https://www.readbyqxmd.com/read/29730711/pronounced-maternal-parent-of-origin-bias-for-type-1-nf1-microdeletions
#16
Lisa Neuhäusler, Anna Summerer, David N Cooper, Victor-F Mautner, Hildegard Kehrer-Sawatzki
Neurofibromatosis type 1 (NF1) is caused, in 4.7-11% of cases, by large deletions encompassing the NF1 gene and its flanking regions within 17q11.2. Different types of large NF1 deletion occur which are distinguishable by their breakpoint location and underlying mutational mechanism. Most common are the type-1 NF1 deletions of 1.4 Mb which exhibit recurrent breakpoints caused by nonallelic homologous recombination (NAHR), also termed unequal crossover. Here, we analyzed 37 unrelated families of patients with de novo type-1 NF1 deletions by means of short tandem repeat (STR) profiling to determine the parental origin of the deletions...
May 5, 2018: Human Genetics
https://www.readbyqxmd.com/read/29721598/current-utilization-and-procedural-practices-in-pediatric-whole-body-mri
#17
Gary R Schooler, Joseph T Davis, Heike E Daldrup-Link, Donald P Frush
BACKGROUND: Whole-body magnetic resonance imaging (MRI) is an evolving and increasingly powerful imaging tool with a variety of applications in the pediatric patient population. Variability exists among radiology practices in how this MRI tool is used and how it performed. OBJECTIVE: Our objective was to gain an improved understanding of technical and utilization practices in pediatric whole-body MRI across North America by exploring indications for exam performance, determining referral patterns, and assessing technical protocols and procedures...
May 2, 2018: Pediatric Radiology
https://www.readbyqxmd.com/read/29720369/genomic-status-of-met-potentiates-sensitivity-to-met-and-mek-inhibition-in-nf1-related-malignant-peripheral-nerve-sheath-tumors
#18
Jacqueline D Peacock, Matthew G Pridgeon, Elizabeth A Tovar, Curt J Essenburg, Megan J Bowman, Zachary B Madaj, Julie Koeman, Elissa A Boguslawski, Jamie Grit, Rebecca D Dodd, Vadim Khachaturov, Diana M Cardona, Mark Chen, David G Kirsch, Flavio Maina, Rosanna Dono, Mary E Winn, Carrie R Graveel, Matthew R Steensma
Malignant Peripheral Nerve Sheath Tumors (MPNSTs) are highly resistant sarcomas that occur in up to 13% of individuals with Neurofibromatosis Type 1 (NF1). Genomic analysis of longitudinally collected tumor samples in a case of MPNST disease progression revealed early hemizygous microdeletions in NF1 and TP53, with progressive amplifications of MET, HGF, and EGFR. To examine the role of MET in MPNST progression, we developed mice with enhanced MET expression and Nf1 ablation (Nf1fl/KO;lox-stop-loxMETtg/+;Plp-creERTtg/+; referred to as NF1 MET)...
May 2, 2018: Cancer Research
https://www.readbyqxmd.com/read/29707374/successful-surgical-treatment-of-massive-spontaneous-hemothorax-due-to-intrathoracic-secondary-degeneration-of-a-neurofibroma-from-mediastinal-involvement-of-type-1-neurofibromatosis
#19
Seong Cheol Jeong, Jae Jun Kim, Si Young Choi, Yong Hwan Kim, In Sub Kim
Massive hemothorax caused by a mediastinal mass is extremely rare. Herein, we present a case of successful surgery for a massive hemothorax caused by intrathoracic cystic hemorrhagic degeneration of a neurofibroma in a patient with neurofibromatosis type 1 (NF1). A 44-year-old man with NF1 was admitted to our emergency department for chest pain and dyspnea. Image studies revealed a massive hemothorax caused by a posterior mediastinal mass adjacent to the descending aorta and the spinal canal. The tumor, located at the fourth to the sixth thoracic vertebra, had diffusely and extensively infiltrated around proliferative vessels...
March 2018: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29704429/insights-into-optic-pathway-glioma-vision-loss-from-mouse-models-of-neurofibromatosis-type-1
#20
REVIEW
Morgan E Freret, David H Gutmann
Neurofibromatosis type 1 (NF1) is a common cancer predisposition syndrome caused by mutations in the NF1 gene. The NF1-encoded protein (neurofibromin) is an inhibitor of the oncoprotein RAS and controls cell growth and survival. Individuals with NF1 are prone to developing low-grade tumors of the optic nerves, chiasm, tracts, and radiations, termed optic pathway gliomas (OPGs), which can cause vision loss. A paucity of surgical tumor specimens and of patient-derived xenografts for investigative studies has limited our understanding of human NF1-associated OPG (NF1-OPG)...
April 28, 2018: Journal of Neuroscience Research
keyword
keyword
27014
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"