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Neurofibromatosis

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https://www.readbyqxmd.com/read/28725547/spatial-working-memory-in-neurofibromatosis-1-altered-neural-activity-and-functional-connectivity
#1
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/28723766/lady-with-wings-a-case-report-of-giant-neurofibromatosis-type-i
#2
Suraj Maharjan, Xiucun Li, Jianli Cui, Yang Liu, Laijin Lu
RATIONALE: Neurofibromatosis type I (NF-I) accounts for approximately 90% of neurofibromatosis. NF-I is an autosomal dominant genetic disease which results from the gene mutation of NF-I situated in chromosome 17q11.2. PATIENT CONCERNS: A 32-year-old lady presented with a giant wing like structure on her back which started growing from her childhood. DIAGNOSIS: A diagnosis of NF-I was confirmed as she presented with multiple cutaneous nodules, multiple café-au-lait macules of different sizes, scoliosis deformity, and positive family history of neurofibroma...
July 2017: Medicine (Baltimore)
https://www.readbyqxmd.com/read/28721348/systematic-genetic-screening-in-a-prospective-group-of-danish-patients-with-pheochromocytoma
#3
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
#4
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
#5
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
#6
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
#7
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/28696935/revisiting-neurofibromatosis-type-2-diagnostic-criteria-to-exclude-lztr1-related-schwannomatosis
#8
(no author information available yet)
No abstract text is available yet for this article.
July 11, 2017: Neurology
https://www.readbyqxmd.com/read/28694401/type-1-neurofibromatosis-complicated-by-pulmonary-arterial-hypertension-a-case-report
#9
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/28692055/cellular-prion-protein-prp-c-in-the-development-of-merlin-deficient-tumours
#10
L Provenzano, Y Ryan, D A Hilton, J Lyons-Rimmer, F Dave, E A Maze, C L Adams, R Rigby-Jones, S Ammoun, C O Hanemann
Loss of function mutations in the neurofibromatosis Type 2 (NF2) gene, coding for a tumour suppressor, Merlin, cause multiple tumours of the nervous system such as schwannomas, meningiomas and ependymomas. These tumours may occur sporadically or as part of the hereditary condition neurofibromatosis Type 2 (NF2). Current treatment is confined to (radio) surgery and no targeted drug therapies exist. NF2 mutations and/or Merlin inactivation are also seen in other cancers including some mesothelioma, breast cancer, colorectal carcinoma, melanoma and glioblastoma...
July 10, 2017: Oncogene
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/28690516/eruptive-seborrheic-keratoses-restricted-to-plaque-patch-stage-mycosis-fungoides
#12
Eve Lebas, Pascale Quatresooz, Jorge E Arrese, Arjen F Nikkels
Eruptive seborrheic keratoses (ESK) are rare in dermatology. They are usually inflammatory in nature and may be encountered as Leser-Trélat sign. ESK may also be simultaneously observed with hepatic angiomas, chemotherapy, segmental neurofibromatosis, HIV or erythrodermic pityriasis rubra pilaris, psoriasis, and drug eruption. ESK may be transient and self-healing. Others recede after successful treatment of the underlying disease. In some instances, seborrheic keratoses may follow an isotopic response and remain strictly restricted to sites of previous eczema, photo-exposition or tattoos...
May 2017: Case Reports in Dermatology
https://www.readbyqxmd.com/read/28686121/surgical-and-molecular-considerations-in-the-treatment-of-pediatric-thalamopeduncular-tumors
#13
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
#14
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
#15
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
#16
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
#17
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/28662276/nerve-ultrasound-shows-subclinical-peripheral-nerve-involvement-in-neurofibromatosis-type-2
#18
Johan A Telleman, Menno D Stellingwerff, Geert J Brekelmans, Leo H Visser
INTRODUCTION: Neurofibromatosis type 2 (NF2) is mainly associated with central nervous system (CNS) tumors. Peripheral nerve involvement is described in symptomatic patients, but evidence of subclinical peripheral nerve involvement is scarce. METHODS: We conducted a cross-sectional pilot study in 2 asymptomatic and 3 minimally symptomatic patients with NF2 to detect subclinical peripheral nerve involvement. Patients underwent clinical examination, nerve conduction studies (NCS), and high-resolution ultrasonography (HRUS)...
June 29, 2017: Muscle & Nerve
https://www.readbyqxmd.com/read/28658887/a-screening-study-on-dermatoses-in-pregnancy
#19
K Kannambal, G K Tharini
INTRODUCTION: Pregnancy produces many cutaneous changes, some of which are specifically related to pregnancy (dermatoses of pregnancy), some are modifiable by pregnancy and others that are common are named physiologic. These physiologic skin changes, usually do not impair the health of the mother or the fetus but some of them can be cosmetically significant and of importance to the dermatologist. AIM: The present study was undertaken to find out the prevalence of the physiological and pathological skin changes in pregnancy, and to correlate the prevalence of the major cutaneous changes and diseases in relation to different trimesters of pregnancy and with gravidity...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
https://www.readbyqxmd.com/read/28658822/recurrent-optic-nerve-pilocytic-astrocytoma-a-rare-case
#20
Sudha Girish Menon, Vuppalapati Nishant Janardhana Raju, Sulatha V Bhandary, Krishna Rao Addoor
Pilocytic astrocytoma is a low grade glioma that affects mostly children and young adults and can occur anywhere in the central nervous system. Pilocytic astrocytoma of the optic nerve is an equally indolent subtype that is often associated with Neurofibromatosis Type I (NFI). A 40-year-old male presented with left sided axial proptosis and exposure keratopathy. MRI revealed a mass in left proximal orbit, extending posteriorly abutting the chiasma and the right optic nerve on MRI. Enucleation of the left eye along with near total excision of intracranial part of the mass was performed...
May 2017: Journal of Clinical and Diagnostic Research: JCDR
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