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Neurofibromatosis

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https://www.readbyqxmd.com/read/29229345/comparison-of-outcomes-in-three-surgical-approaches-for-dystrophic-cervical-kyphosis-in-patients-with-neurofibromatosis-type-%C3%A2
#1
Tao Lin, Wei Shao, Ke Zhang, Rui Gao, Xuhui Zhou
OBJECTIVE: This study compares the outcomes of anterior-only (AO), posterior-only (PO), and anteroposterior (AP) surgical approaches for the treatment of dystrophic cervical kyphosis in patients with neurofibromatosis type I (NF1). METHODS: A total of 81 patients with dystrophic cervical kyphosis due to NF1 were included in our retrospective observational study. Length of kyphosis, duration of halo-traction, cobb angle, C2-7-SVA, T1 slope, NDI (Neck Disability Index), and complications after surgery were evaluated before and, if possible, after each surgical approach...
December 8, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29228356/dietary-intervention-rescues-myopathy-associated-with-neurofibromatosis-type-1
#2
Matthew A Summers, Thusitha Rupasinghe, Emily R Vasiljevski, Frances J Evesson, Kathy Mikulec, Lauren Peacock, Kate Gr Quinlan, Sandra T Cooper, Ute Roessner, David A Stevenson, David G Little, Aaron Schindeler
Neurofibromatosis type 1 (NF1) is an autosomal dominant genetic disorder with complex symptomology. In addition to a predisposition to tumors, children with NF1 can present with reduced muscle mass, global muscle weakness, and impaired motor skills, which can have a significant impact on quality of life. Genetic mouse models have shown a lipid storage disease phenotype may underlie muscle weakness in NF1. Herein we confirm that biopsy specimens from six individuals with NF1 similarly manifest features of a lipid storage myopathy, with marked accumulation of intramyocellular lipid, fibrosis, and mononuclear cell infiltrates...
December 8, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/29226552/spontaneously-regressing-brain-lesions-in-smith-lemli-opitz-syndrome
#3
An N Dang Do, Eva H Baker, Katherine E Warren, Simona E Bianconi, Forbes D Porter
Smith-Lemli-Opitz syndrome (SLOS) is a metabolic disorder caused by an inborn error of cholesterol synthesis that affects the development of many organ systems. Malformations in the central nervous system typically involve midline structures and reflect abnormal growth and differentiation of neurons and supporting cells. Despite these defects in central nervous system development, brain tumor formation has only rarely been reported in association with SLOS. We present three individuals with SLOS and lesions in the basal ganglia or brainstem detected by MRI that were concerning for tumor formation...
December 11, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/29223524/gamma-knife-stereotactic-radiosurgery-for-non-vestibular-cranial-nerve-schwannomas
#4
Anne-Marie Langlois, Christian Iorio-Morin, Laurence Masson-Côté, David Mathieu
BACKGROUND: Non-vestibular cranial schwannomas represent a rare type of benign intracranial tumor. Few studies have evaluated the use of stereotactic radiosurgery (SRS) as a primary management option for these lesions. We therefore performed a retrospective review of our institution's experience focussing on efficacy with regards to tumor control and clinical symptom stabilization, as well as treatment safety. METHODS: Patients were included if they underwent at least one SRS procedure for a non-vestibular schwannoma and had at least 6 months of available imaging follow-up...
December 6, 2017: World Neurosurgery
https://www.readbyqxmd.com/read/29221333/successful-treatment-of-a-ruptured-left-internal-mammary-artery-aneurysm-with-a-delayed-diagnosis-of-type-i-neurofibromatosis
#5
Do Wan Kim, In Seok Jeong, Kook Joo Na, Bong Suk Oh, Byung Hee Ahn, Sang Yun Song
Neurofibromatosis type I (NF-1) induced vasculopathy is rare but catastrophic complication after aneurysmal rupture. We present the case of a 55-year-old female who developed hypovolemic shock because of left internal mammary artery (IMA) pseudoaneurysm rupture associated with NF-1. Even she was not detected NF-1 at the time of arrival in emergency room. We decided to perform percutaneous embolization instead of surgical approach. In this case, after intervention, the ruptured left IMA aneurysm was well treated...
September 2017: Journal of Thoracic Disease
https://www.readbyqxmd.com/read/29215653/prevalence-of-neurofibromatosis-type-1-in-the-finnish-population
#6
Roope A Kallionpää, Elina Uusitalo, Jussi Leppävirta, Minna Pöyhönen, Sirkku Peltonen, Juha Peltonen
PurposeThe incidence of neurofibromatosis 1 (NF1) is ~1/2,000 live births, but the current estimates of prevalence vary greatly. This retrospective total-population study was aimed at determining the prevalence of NF1 in Finland.MethodsAll secondary and tertiary referral centers of Finland were searched for NF1 patients. Patient records were manually reviewed and patients fulfilling the National Institutes of Health diagnostic criteria for NF1 were included. Prevalence on 31 December 2005 was determined. Data on incidence and survival were combined to refine the prevalence estimation...
December 7, 2017: Genetics in Medicine: Official Journal of the American College of Medical Genetics
https://www.readbyqxmd.com/read/29215515/isolated-absent-thelarche-in-a-patient-with-neurofibromatosis-type-1-and-acromegaly
#7
Anne E Martini, Jessica R Zolton, Alan H DeCherney
BACKGROUND: Isolated absent thelarche is a rare condition that is infrequently reviewed in the literature. CASE: A 28-year-old woman with neurofibromatosis type 1 and acromegaly presented with absent breast development despite hormone therapy. Examination noted a normally developed woman with acromegalic features and Tanner stage I breasts. Hormone studies and karyotype were normal. Magnetic resonance imaging of the patient's brain demonstrated a voluminous pituitary...
December 4, 2017: Obstetrics and Gynecology
https://www.readbyqxmd.com/read/29214122/peripheral-nerve-sheath-tumors-of-the-upper-extremity-and-hand-in-patients-with-neurofibromatosis-type-1-topography-of-tumors-and-evaluation-of-surgical-treatment-in-62-patients
#8
Reinhard E Friedrich, Caroline Diekmeier
Objective: Neurofibromatosis type 1 (NF1) is an autosomal dominant tumor predisposition syndrome with a tendency to develop peripheral nerve sheath tumors (PNST). Plexiform neurofibromas (PNF) are detected in a high proportion of affected patients. The tumors can lead to severe disfigurement and are classified as precancerous. This study examines the surgical procedures that have been performed on large PNST of the upper limb and hand, and investigates whether a specific distribution pattern of the tumors can be detected in surgically treated cases...
2017: GMS Interdisciplinary Plastic and Reconstructive Surgery DGPW
https://www.readbyqxmd.com/read/29214112/hypomelanotic-melanoma-detected-by-the-little-red-riding-hood-sign-in-a-patient-with-neurofibromatosis-type-1
#9
Roberta Giuffrida, Maximilian Uranitsch, Karin Schmid, Teresa Deinlein, Fabrizio Favero, Iris Zalaudek
Neurofibromatosis type 1 (NF1) is a genetic disorder commonly associated with an increased risk for development of malignancy, including skin cancers. Herein we describe a case of invasive melanoma occurring in a patient with NF1 and discuss the association between these two diseases, highlighting the importance of comparative clinical and dermoscopic approaches in this category of patients in which the detection of melanoma can be difficult because of the presence of multiple skin tumors.
October 2017: Dermatology Practical & Conceptual
https://www.readbyqxmd.com/read/29213042/-new-opportunities-in-the-optimization-of-epilepsy-treatment-in-adolescents
#10
V I Guzeva, I V Okhrim, O V Guzeva, V V Guzeva, N E Maksimova
In the pubertal period, the most severe forms of childhood epilepsy persist and are modified; genetically determined syndromes, atypical for early and late age periods, make their debut. Hereditary predisposition, instability of homeostatic mechanisms, neuroendocrine restructuring at the age of puberty and the influence of factors contributing to the realization of a genetic defect lead to a long-term transformation of mediator systems and formation of epileptic activity in adolescents. The authors present common approaches in the treatment and characterization of the modern antiepileptic drug perampanel, which is highly effective in treatment of patients with resistant forms of epilepsy...
2017: Zhurnal Nevrologii i Psikhiatrii Imeni S.S. Korsakova
https://www.readbyqxmd.com/read/29210711/an-autopsy-case-of-sudden-death-in-neurofibromatosis-type-1-with-pheochromocytoma-and-myocarditis
#11
Masataka Takamiya, Hisae Niitsu, Kiyoshi Saigusa
An autopsy case of sudden death in a 33-year-old man with neurofibromatosis type 1 (von Recklinghausen disease), pheochromocytoma, and myocarditis is reported. The decedent was found in his bedroom in cardiopulmonary arrest. Polypoid, elastic dermal papules on the neck, chest, abdomen, and back, and flat dark-brown macules on the chest and abdomen were observed. Flat, ovoid, dark-brown freckles were present in both axillae. Examination of the right adrenal gland revealed a tumor measuring 5 cm × 5 cm × 3 cm...
November 28, 2017: American Journal of Forensic Medicine and Pathology
https://www.readbyqxmd.com/read/29206885/does-elevated-glucose-metabolism-correlate-with-higher-cell-density-in-neurofibromatosis-type-1-associated-peripheral-nerve-sheath-tumors
#12
Dominik Berzaczy, Marius E Mayerhoefer, Amedeo A Azizi, Alexander R Haug, Daniela Senn, Dietrich Beitzke, Michael Weber, Tatjana Traub-Weidinger
PURPOSE: To investigate whether elevated glucose metabolism in neurofibroma, determined by [F18]-FDG-PET, is correlated with cell density in MRI, as expressed through the apparent diffusion coefficient. MATERIALS AND METHODS: Patients diagnosed with neurofibromatosis type 1 and peripheral nerve sheath tumors (PNST) were enrolled in this prospective, IRB-approved study. After a single [F18]-FDG injection, patients consecutively underwent [F18]-FDG-PET/CT and [F18]-FDG-PET/MRI on the same day...
2017: PloS One
https://www.readbyqxmd.com/read/29204259/early-development-of-infants-with-neurofibromatosis-type-1-a-case-series
#13
Anna May Kolesnik, Emily Jane Harrison Jones, Shruti Garg, Jonathan Green, Tony Charman, Mark Henry Johnson
Background: Prospective studies of infants at familial risk for autism spectrum disorder (ASD) have yielded insights into the earliest signs of the disorder but represent heterogeneous samples of unclear aetiology. Complementing this approach by studying cohorts of infants with monogenic syndromes associated with high rates of ASD offers the opportunity to elucidate the factors that lead to ASD. Methods: We present the first report from a prospective study of ten 10-month-old infants with neurofibromatosis type 1 (NF1), a monogenic disorder with high prevalence of ASD or ASD symptomatology...
2017: Molecular Autism
https://www.readbyqxmd.com/read/29204240/a-rare-case-of-diffuse-neurofibroma-masquerading-as-a-hemangioma-a-radiological-perspective
#14
Shaista Siddiqui, Zafar Ahmad Khan, Shagufta Wahab, Kafil Akhtar, Farhat Huma Ansari, Nani Lampung
Diffuse neurofibroma is a rarely encountered subtype of neurofibroma but the most common to be misdiagnosed. Its imaging appearance is very similar to that of a vascular malformation, and it is often labelled one until a biopsy proves it to be otherwise. The infrequency of its association with neurofibromatosis makes it a rare and difficult diagnosis. Here, we report the case of a 16-year-old girl who presented with the complaint of a gradually progressive swelling around the right ankle and heel, which was initially diagnosed as a case of a vascular malformation...
December 2017: Journal of Ultrasound
https://www.readbyqxmd.com/read/29201372/the-importance-of-pheochromocytoma-case-detection-in-patients-with-neurofibromatosis-type-1-a-case-report-and-review-of-literature
#15
Joshua M Tate, Janelle B Gyorffy, Jeffrey A Colburn
Neurofibromatosis type 1 is a complex, multi-system genetic disorder that is associated with an increased prevalence of pheochromocytoma and paraganglioma compared to the general population, 1.0%-5.7% versus 0.2%-0.6%, respectively. A delay in pheochromocytoma and paraganglioma diagnosis or undiagnosed pheochromocytoma and paraganglioma, as seen in normotensive and asymptomatic patients, may portend a significant morbidity and mortality risk due to excess catecholamine secretion. Currently, there are no generally accepted guidelines of screening for pheochromocytoma and paragangliomas in asymptomatic individuals of this population with approaches and practices varying considerably between physicians...
2017: SAGE Open Medical Case Reports
https://www.readbyqxmd.com/read/29200699/metastatic-epithelioid-malignant-peripheral-nerve-sheath-tumor-in-a-known-case-of-neurofibromatosis-1-cytomorphological-appearance-and-critical-analysis-of-immunohistochemistry
#16
Rakesh Kumar Gupta, Ravindra Kumar Saran, Deepak Ghuliani, Lalit Garg, Abhijit Das
Malignant peripheral nerve sheath tumors (MPNSTs) are rare soft tissue tumors commonly arising from nerve roots in the extremities with a predilection in neurofibromatosis (NF) patients. MPNSTs are known to behave aggressively, with worse prognosis in nonresectable cases, and a 5-year survival of about 52% and 15% in resectable and unresectable cases, respectively. Although cytological diagnosis in a known case of NF-1 is possible, however, in the absence of any associated syndrome in a sporadic case, it is very challenging to accurately diagnose this tumor...
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29200695/metaplastic-carcinoma-of-breast-and-neurofibromatosis-1-a-rare-association
#17
Gnanapriya Vellaisamy, Suravi Mohanty, Pritilata Rout, Suraj Manjunath
Neurofibromatosis 1 (NF1) patients are generally at higher risk of developing common malignant tumors such as brain and soft tissue tumors. These patients are 5-fold increased the risk of developing breast cancer by the age of 50 years after that the risk remains the same. The most common reported cancer is infiltrating duct carcinoma. We report a case of 61-year-old female with NF1 presented with pain and breast lump for the past 2 months. On mammography, a retroareolar solid cystic lesion measuring 32 mm × 30 mm × 30 mm was noted which was definitive for malignancy...
July 2017: Indian Journal of Medical and Paediatric Oncology
https://www.readbyqxmd.com/read/29198560/lipoamide-inhibits-nf1-deficiency-induced-epithelial-mesenchymal-transition-in-murine-schwann-cells
#18
Yuchen Zhang, Rongsheng Zhou, Yiping Qu, Maoguo Shu, Shuzhong Guo, Zhuanli Bai
BACKGROUND AND AIMS: Neurofibromatosis type I (NF1) is one of the most common neurocutaneous syndromes characterized by development of adult neurofibromas which is mainly made up of Schwann cells. The disease is generally accepted to be caused by inactivation mutation of Nf1 gene. And Nf1 deficiency had been reported to lead to ROS overproduction and epithelial-mesenchymal transition (EMT) phenotype. This study was designed to investigate whether excessive ROS conferred to Nf1 deficiency-induced EMT in Schwann cells...
November 29, 2017: Archives of Medical Research
https://www.readbyqxmd.com/read/29196927/characteristics-of-cerebellar-glioblastomas-in-adults
#19
Thiébaud Picart, Marc Barritault, Julien Berthillier, David Meyronet, Alexandre Vasiljevic, Didier Frappaz, Jérôme Honnorat, Emmanuel Jouanneau, Delphine Poncet, François Ducray, Jacques Guyotat
Adult cerebellar glioblastomas (cGBM) are rare and their characteristics remain to be fully described. We analyzed the characteristics of 17 adult patients with cGBM and compared them to a series of 103 patients presenting a supra-tentorial glioblastoma (stGBM). The mean age at GBMc diagnosis was 53.4 years (range 28-77). A history of neurofibromatosis type I was noted in 3 patients. cGBM were hemispheric in 10 patients (58.8%), only vermian in 4 patients (23.5%), and both vermian and hemispheric in 3 patients (17...
December 1, 2017: Journal of Neuro-oncology
https://www.readbyqxmd.com/read/29188529/spinal-ependymomas-in-nf2-a-surgical-disease
#20
M Kalamarides, W Essayed, J P Lejeune, R Aboukais, O Sterkers, D Bernardeschi, M Peyre, S K Lloyd, S Freeman, C Hammerbeck-Ward, M Kellett, S A Rutherford, D G Evans, O Pathmanaban, A T King
The management of spinal cord ependymomas in Neurofibromatosis Type 2 (NF2) has traditionally been conservative, in contrast to the management of sporadic cases; the assumption being that, in the context of NF2, they did not cause morbidity. With modern management and improved outcome of other NF2 tumours, this assumption, and therefore the lack of role for surgery, has been questioned. To compare the outcome of conservative treatment of spinal ependymomas in NF2 with surgical intervention in selected patients...
November 29, 2017: Journal of Neuro-oncology
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