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Neurofibromatosis 1

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https://www.readbyqxmd.com/read/29021449/diffuse-intestinal-ganglioneuromatosis-showing-multiple-large-bowel-ulcers-in-a-patient-with-neurofibromatosis-type-1
#1
Masaya Iwamuro, Rika Omote, Takehiro Tanaka, Naruhiko Sunada, Takahiro Nada, Yoshitaka Kondo, Soichiro Nose, Mitsuhiko Kawaguchi, Fumio Otsuka, Hiroyuki Okada
A 67-year-old Japanese man with neurofibromatosis type 1 underwent right hemicolectomy owing to abscess formation around the cecum. A pathological analysis revealed diffuse intestinal ganglioneuromatosis in the cecum and colon. Colonoscopy performed eight months after hemicolectomy revealed multiple ulcers throughout the colon and rectum. The colorectal ulcers failed to respond to conservative treatment and ultimately required surgical resection. Diffuse ganglioneuromatosis was observed again in the resected specimen...
October 11, 2017: Internal Medicine
https://www.readbyqxmd.com/read/29020982/the-prognostic-value-of-c-x-c-motif-chemokine-receptor-4-in-patients-with-sporadic-malignant-peripheral-nerve-sheath-tumors
#2
Chao Zhang, Fang-Yuan Chang, Wen-Ya Zhou, Ji-Long Yang
BACKGROUND: Recent studies indicate that C-X-C motif chemokine receptor 4 (CXCR4) and its ligand, C-X-C motif chemokine ligand 12 (CXCL12), stimulate expression of the cell cycle regulatory protein Cyclin D1 in neurofibromatosis 1-associated malignant peripheral nerve sheath tumor (MPNST) cells and promote their proliferation. In this study, we measured the expression of CXCR4, CXCL12, and Cyclin D1 proteins in sporadic MPNST tissues from Chinese patients and investigated their prognostic values...
October 11, 2017: Chinese Journal of Cancer
https://www.readbyqxmd.com/read/28993414/a-collaborative-model-for-accelerating-the-discovery-and-translation-of-cancer-therapies
#3
REVIEW
Ophélia Maertens, Mila E McCurrach, Benjamin S Braun, Thomas De Raedt, Inbal Epstein, Tannie Q Huang, Jennifer O Lauchle, Hyerim Lee, Jianqiang Wu, Timothy P Cripe, D Wade Clapp, Nancy Ratner, Kevin Shannon, Karen Cichowski
Preclinical studies using genetically engineered mouse models (GEMM) have the potential to expedite the development of effective new therapies; however, they are not routinely integrated into drug development pipelines. GEMMs may be particularly valuable for investigating treatments for less common cancers, which frequently lack alternative faithful models. Here, we describe a multicenter cooperative group that has successfully leveraged the expertise and resources from philanthropic foundations, academia, and industry to advance therapeutic discovery and translation using GEMMs as a preclinical platform...
October 9, 2017: Cancer Research
https://www.readbyqxmd.com/read/28991555/a-63-year-old-woman-with-neurofibromatosis-type-1-and-pulmonary-hypertension-with-worsening-hypoxemia
#4
Udit Chaddha, Ioan Puscas, Ashley Prosper, Sivagini Ganesh, Bassam Yaghmour
A 63-year-old woman with a history of neurofibromatosis type-1 (NF-1) and pulmonary arterial hypertension (PAH) thought to be secondary to the NF-1 presented with a few weeks of worsening dyspnea on exertion. She took no medications other than sildenafil for her pulmonary hypertension (PH). She denied tobacco, alcohol, and illicit or anorectic drug use. She had previously worked as a waitress. Her mother and her brother had NF-1 but no PH or lung disease.
October 2017: Chest
https://www.readbyqxmd.com/read/28988361/correction-to-sphenoid-dysplasia-in-neurofibromatosis-type-1-a-new-technique-for-repair
#5
Concezio Di Rocco, Amir Samii, Gianpiero Tamburrini, Luca Massimi, Mario Giordano
The published version of this article unfortunately contained an error. All names of the authors have been published incorrectly. Given in this article are the corrected author names.
October 7, 2017: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/28984541/isolated-optic-nerve-gliomas-a-multicenter-historical-cohort-study
#6
Ben Shofty, Liat Ben-Sira, Anat Kesler, George Jallo, Mari L Groves, Rajiv R Iyer, Alvaro Lassaletta, Uri Tabori, Eric Bouffet, Ulrich-Wilhelm Thomale, Pablo Hernáiz Driever, Shlomi Constantini
OBJECTIVE Isolated optic nerve gliomas (IONGs) constitute a rare subgroup of optic pathway gliomas (OPGs). Due to the rarity of this condition and the difficulty in differentiating IONGs from other types of OPGs in most clinical series, little is known about these tumors. Currently, due to lack of evidence, they are managed the same as any other OPG. METHODS The authors conducted a multicenter retrospective cohort study aimed at determining the natural history of IONGs. Included were patients with clear-cut glioma of the optic nerve without posterior (chiasmatic/hypothalamic) involvement...
October 6, 2017: Journal of Neurosurgery. Pediatrics
https://www.readbyqxmd.com/read/28981936/-phenotypic-and-genetic-analysis-of-a-child-carrying-a-17q11-2-microdeletion
#7
Hongdan Wang, Zhanqi Feng, Ke Yang, Yue Gao, Xiaodong Huo, Litao Qin, Guiyu Lou
OBJECTIVE: To analyze a child with facial abnormalities with combined cytogenetic and molecular techniques and delineate its clinical phenotype. METHODS: Neuropsychological profile of the child was analyzed. Color Doppler, CT and MRI were used for detecting the nodules in the body. Conventional peripheral blood karyotypes of the child and his parents were analyzed with G-banding. Array-comparative genomic hybridization (aCGH) was performed to detect minor structural chromosomal abnormalities...
October 10, 2017: Zhonghua Yi Xue Yi Chuan Xue za Zhi, Zhonghua Yixue Yichuanxue Zazhi, Chinese Journal of Medical Genetics
https://www.readbyqxmd.com/read/28980149/hemorrhagic-presentation-of-intracranial-pilocytic-astrocytomas-literature-review
#8
REVIEW
G Lakshmi Prasad, B N Nandeesh, Girish R Menon
Pilocytic astrocytomas (PAs) are seemingly innocuous and benign tumors. However, in recent times, many case series have documented high rates of hemorrhage in these neoplasms. We hereby provide a detailed analysis on hemorrhagic pilocytic astrocytomas (HPA) in adults and report one such case managed at our institute. In addition, salient differences between adult and pediatric hemorrhagic PA have been briefed. Hospital records were retrieved for our case. Literature review was conducted by searching online databases for the following keywords-pilocytic astrocytoma, hemorrhage, cranial, pediatric, and adults...
October 4, 2017: Neurosurgical Review
https://www.readbyqxmd.com/read/28979623/-piebaldisme-a-rare-genodermatosis
#9
Fatima Zahra Debbarh, Fatima Zahra Mernissi
Piebaldism is a rare autosomal dominant genodermatosis. It is due to congenital absence of melanocytes in the affected areas. We report a case. A 5 year old girl born to consanguineous parents and with similar cases in her mother's; she presented since birth achromic lesions on the legs with a steady evolution. clinical examination showed confluent achromic macules and poliosis (A) with no contrast enhancement under Wood lamp and several coffee-with-milk colored spots on the trunk and thighs(B). The diagnosis of piebaldism was made...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28979620/-lisch-nodule-in-neurofibromatosis-type-1
#10
Yassine Abaloun, Yousra Ajhoun
Neurofibromatosis type 1 (NF1) or Von Recklinghausen disease manifests as cutaneous café-au-lait spots and neurofibromas. It is one of the most common autosomal dominant genetic diseases. It is extremely variable in its individual manifestation. Cutaneous and neurologic symptoms are the most common manifestations but it can also affect other organs including eyes, bones and other areas. Lisch nodules are the most common ocular manifestations in NF-1. They are asymptomatic small pigmented iris tumors (iris hamartomas) which can help suggest the diagnosis of NF1 as they are characteristic of this disease and mostly occur in adult patients...
2017: Pan African Medical Journal
https://www.readbyqxmd.com/read/28973692/malignant-peripheral-nerve-sheath-tumors-are-not-a-feature-of-neurofibromatosis-type-2-in-the-unirradiated-patient
#11
Andrew T King, Scott A Rutherford, Charlotte Hammerbeck-Ward, Simon K Lloyd, Simon R Freeman, Omar N Pathmanaban, Mark Kellett, Rupert Obholzer, Shazia Afridi, Patrick Axon, Dorothy Halliday, Allyson Parry, Owen M Thomas, Roger D Laitt, Martin G McCabe, Stavros Stivaros, Sara Erridge, D Gareth Evans
BACKGROUND: The published literature suggests that malignant peripheral nerve sheath tumors (MPNST) occur at increased frequency in neurofibromatosis type 2 (NF2). A recent review based on incidence data in North America showed that 1 per 1000 cerebellopontine angle nerve sheath tumors were malignant. OBJECTIVE: To determine whether MPNST occurred spontaneously in NF2 by reviewing our NF2 database. METHODS: The prospective database consists of 1253 patients with NF2...
July 20, 2017: Neurosurgery
https://www.readbyqxmd.com/read/28971455/neurofibromatosis-noonan-syndrome-a-possible-paradigm-of-the-combination-of-genetic-and-epigenetic-factors
#12
Christos Yapijakis, Nikos Pachis, Costas Voumvourakis
Neurofibromatosis-Noonan syndrome (NFNS) is a clinical entity possessing traits of autosomal dominant disorders neurofibromatosis type 1 (NF1) and Noonan syndrome (NS). Germline mutations that disrupt the RAS/MAPK pathway are involved in the pathogenesis of both NS and NF1. In light of a studied Greek family, a new theory for etiological pathogenesis of NFNS is suggested. The NFNS phenotype may be the final result of a combination of a genetic factor (a mutation in the NF1 gene) and an environmental factor with the epigenetic effects of muscle hypotonia (such as hydantoin in the reported Greek family), causing hypoplasia of the face and micrognathia...
2017: Advances in Experimental Medicine and Biology
https://www.readbyqxmd.com/read/28955729/children-with-5-end-nf1-gene-mutations-are-more-likely-to-have-glioma
#13
Corina Anastasaki, Stephanie M Morris, Feng Gao, David H Gutmann
OBJECTIVE: To ascertain the relationship between the germline NF1 gene mutation and glioma development in patients with neurofibromatosis type 1 (NF1). METHODS: The relationship between the type and location of the germline NF1 mutation and the presence of a glioma was analyzed in 37 participants with NF1 from one institution (Washington University School of Medicine [WUSM]) with a clinical diagnosis of NF1. Odds ratios (ORs) were calculated using both unadjusted and weighted analyses of this data set in combination with 4 previously published data sets...
October 2017: Neurology. Genetics
https://www.readbyqxmd.com/read/28941532/optic-pathway-gliomas-secondary-to-neurofibromatosis-type-1
#14
Shannon Jeanine Beres, Robert A Avery
Children with neurofibromatosis type 1 frequently manifest optic pathway gliomas-low-grade gliomas intrinsic to the visual pathway. This review describes the molecular and genetic mechanisms driving optic pathway gliomas as well as the clinical symptoms of this relatively common genetic condition. Recommendations for clinical management and descriptions of the newest imaging techniques are discussed.
May 2017: Seminars in Pediatric Neurology
https://www.readbyqxmd.com/read/28939538/incremental-value-of-multiparametric-whole-body-mr-imaging-over-whole-spine-magnetic-resonance-imaging-in-neurofibromatosis-type-i-patients
#15
Lihua Zhang, Dessouky Riham, Yin Xi, Avneesh Chhabra, Lu Q Le
AIM: To determine the incremental value of multiparametric whole-body (WBMRI) over whole spine magnetic resonance imaging (WSMRI) in neurofibromatosis type1 (NF1) patients. METHODS: A consecutive series of 30 patients with known NF1 underwent WBMRI screening using anatomic, diffusion and contrast imaging over a 30-month period. 13/30 patients also had WSMRI. Tumors were classified per location and morphology and were software segmented to determine numbers and volumes...
September 19, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/28934393/neurofibromatosis-type-1-alternative-splicing-is-a-key-regulator-of-ras-erk-signaling-and-learning-behaviors-in-mice
#16
Hieu T Nguyen, Melissa N Hinman, Xuan Guo, Alok Sharma, Hiroyuki Arakawa, Guangbin Luo, Hua Lou
Appropriate activation of the Ras/extracellular signal-regulated kinase (ERK) protein signaling cascade within the brain is crucial for optimal learning and memory. One key regulator of this cascade is the Nf1 Ras GTPase activating protein (RasGAP), which attenuates Ras/ERK signaling by converting active Ras is bound to guanosine triphosphate, activating Ras into inactive Ras is bound to guanosine diphosphate, inactivating Ras. A previous study using embryonic stem cells and embryonic stem cell-derived neurons indicated that Nf1 RasGAP activity is modulated by the highly regulated alternative splicing of Nf1 exon 23a...
October 1, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28932379/testing-the-excitation-inhibition-imbalance-hypothesis-in-a-mouse-model-of-the-autism-spectrum-disorder-in-vivo-neurospectroscopy-and-molecular-evidence-for-regional-phenotypes
#17
Joana Gonçalves, Inês R Violante, José Sereno, Ricardo A Leitão, Ying Cai, Antero Abrunhosa, Ana Paula Silva, Alcino J Silva, Miguel Castelo-Branco
BACKGROUND: Excitation/inhibition (E/I) imbalance remains a widely discussed hypothesis in autism spectrum disorders (ASD). The presence of such an imbalance may potentially define a therapeutic target for the treatment of cognitive disabilities related to this pathology. Consequently, the study of monogenic disorders related to autism, such as neurofibromatosis type 1 (NF1), represents a promising approach to isolate mechanisms underlying ASD-related cognitive disabilities. However, the NF1 mouse model showed increased γ-aminobutyric acid (GABA) neurotransmission, whereas the human disease showed reduced cortical GABA levels...
2017: Molecular Autism
https://www.readbyqxmd.com/read/28931105/neurofibromatosis-type-1-accompanied-by-craniofacial-pain-literature-review-and-descriptive-case
#18
Chunghwan Son, Ji Woon Park
Neurofibromatosis type 1 (NF-1) is a genetic disease with characteristic neurofibromas and bony dysplasia that manifest throughout the body, including the craniofacial region. NF-1 patients are known to frequently report chronic pain in areas below the head; however, the matter of pain in the craniofacial region in this patient group has not been handled intensively so far, and studies have mainly focused on headaches. This article comprehensively reviews the related literature and reports a case of an NF-1 patient whose chief complaint was headache and pain in the temporomandibular joint area...
September 20, 2017: Journal of Oral & Facial Pain and Headache
https://www.readbyqxmd.com/read/28928977/giant-scalp-plexiform-neurofibroma-associated-with-nf-1
#19
Sunil Munakomi
Herein we report an interesting image of a giant scalp plexiform neurofibroma associated with neurofibromatosis (NF)-1.
September 2017: Oxford Medical Case Reports
https://www.readbyqxmd.com/read/28927324/parasagittal-meningioma-a-not-so-benign-entity
#20
Roger W Byard
While the majority of intracranial meningiomas have an indolent clinical course, sudden and unexpected death may rarely occur. Two cases are reported to demonstrate rapid clinical deterioration resulting in death in individuals with large, grade I, parasagittal meningiomas. Case 1 was a 46-year-old man with a history of headaches and epilepsy who suddenly collapsed and died. A large right frontal parasagittal meningioma with haemorrhage had compressed the brain and lateral ventricle, causing tonsillar herniation...
January 1, 2017: Medicine, Science, and the Law
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