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Hikmet Gülşah Tanyıldız, Şule Yeşil, Ceyhun Bozkurt, Mehmet Onur Çandır, Sibel Akpınar-Tekgündüz, Şule Toprak, Deniz Yüksel, Gürses Şahin
The methylenetetrahydrofolate reductase (MTHFR) gene plays a key role in carcinogenesis through its effects on DNA synthesis and methylation and also has a significant role in the etiology of many disorders, such as diabetes, migraine, and cardiovascular disease. Neurofibromatoses (NF) are autosomal dominant inherited diseases that can affect tissues such as bone and skin and predispose individuals to tumor development in various parts of the nervous system or body. Optic nerve glioma and brain tumors are common in children with NF, and leukemia and lymphoma incidence is also higher than normal...
2016: Turkish Journal of Pediatrics
Verena Stahn, Inga Nagel, Susan Fischer-Huchzermeyer, Florian Oyen, Reinhard Schneppenheim, Stefan Gesk, Axel Bohring, Levan Chikobava, Peter Young, Burkhard Gess, Mathias Werner, Volker Senner, Anja Harder
Neurofibromas and schwannomas are benign Schwann cell-derived peripheral nerve sheath tumors arising sporadically and within neurofibromatoses. Multiple tumors are a hallmark of neurofibromatosis type 1 (NF1) and type 2 (NF2) and schwannomatosis. Neurofibromas in NF1 and schwannomas in NF2 or schwannomatosis are defined by distinctive molecular hits. Among these, multiple hybrid neurofibromas/schwannomas may also appear, not yet being defined by a molecular background. We therefore performed molecular analysis of 22 hybrid neurofibromas/schwannomas using array comparative genomic hybridization, immunohistochemistry, quantitative RT-PCR, and functional analyses of cultured Schwann cells...
October 17, 2016: American Journal of Pathology
Jesse Lee Kresak, Meggen Walsh
The neurofibromatoses are a heterogeneous group of hereditary cancer syndromes that lead to tumors of the central and peripheral nervous systems, as well as other organ systems. By far the most common form is neurofibromatosis 1 (96%), followed by neurofibromatosis 2 (3%), and a more recently recognized, lesser known form, schwannomatosis. The diagnostic criteria, pathogenesis, molecular considerations, and clinical manifestations are discussed in this review article.
June 2016: Journal of Pediatric Genetics
Shivani Ahlawat, Laura M Fayad, Muhammad Shayan Khan, Miriam A Bredella, Gordon J Harris, D Gareth Evans, Said Farschtschi, Michael A Jacobs, Avneesh Chhabra, Johannes M Salamon, Ralph Wenzel, Victor F Mautner, Eva Dombi, Wenli Cai, Scott R Plotkin, Jaishri O Blakeley
OBJECTIVES: The Response Evaluation in Neurofibromatosis and Schwannomatosis (REiNS) International Collaboration Whole-Body MRI (WB-MRI) Working Group reviewed the existing literature on WB-MRI, an emerging technology for assessing disease in patients with neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), and schwannomatosis (SWN), to recommend optimal image acquisition and analysis methods to enable WB-MRI as an endpoint in NF clinical trials. METHODS: A systematic process was used to review all published data about WB-MRI in NF syndromes to assess diagnostic accuracy, feasibility and reproducibility, and data about specific techniques for assessment of tumor burden, characterization of neoplasms, and response to therapy...
August 16, 2016: Neurology
Charlotte Marie Halvorsen, Pål Rønning, John Hald, Tom Børge Johannesen, Frode Kolstad, Iver A Langmoen, Bjarne Lied, Sigrun Skaar Holme, Eirik Helseth
BACKGROUND: The existing literature on recurrence rates and long-term clinical outcome after resection of intraspinal nerve sheath tumors is limited. OBJECTIVE: To evaluate progression-free survival, overall survival, and long-term clinical outcome in a consecutive series of 131 patients with symptomatic intraspinal nerve sheath tumors. METHODS: Medical charts were retrospectively reviewed. Surviving patients voluntarily participated in a clinical history and physical examination that focused on neurological function and current tumor status...
October 2015: Neurosurgery
Pollyanna Barros Batista, Eny Maria Goloni Bertollo, Danielle de Souza Costa, Lucas Eliam, Karin Soares Gonçalves Cunha, José Renan Cunha-Melo, Luiz Guilherme Darrigo Junior, Mauro Geller, Ingrid Faria Gianordoli-Nascimento, Luciana Gonçalves Madeira, Hérika Martins Mendes, Débora Marques de Miranda, Nikolas Andre Mata-Machado, Eric Grossi Morato, Érika Cristina Pavarino, Luciana Baptista Pereira, Nilton Alves de Rezende, Luíza de Oliveira Rodrigues, Jorge Bezerra Cavalcanti Sette
Part 1 of this guideline addressed the differential diagnosis of the neurofibromatoses (NF): neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2) and schwannomatosis (SCH). NF shares some features such as the genetic origin of the neural tumors and cutaneous manifestations, and affects nearly 80 thousand Brazilians. Increasing scientific knowledge on NF has allowed better clinical management and reduced rate of complications and morbidity, resulting in higher quality of life for NF patients. Most medical doctors are able to perform NF diagnosis, but the wide range of clinical manifestations and the inability to predict the onset or severity of new features, consequences, or complications make NF management a real clinical challenge, requiring the support of different specialists for proper treatment and genetic counseling, especially in NF2 and SCH...
June 2015: Arquivos de Neuro-psiquiatria
H S Füeßl
No abstract text is available yet for this article.
May 13, 2015: MMW Fortschritte der Medizin
Irene Paganini, Roberta Sestini, Matilde Cacciatore, Gabriele L Capone, Luisa Candita, Concetta Paolello, Marta Sbaraglia, Angelo P Dei Tos, Sabrina Rossi, Laura Papi
Schwannomatosis is a tumor predisposition syndrome characterized by development of multiple intracranial, spinal, and peripheral schwannomas. Constitutional alterations in either SMARCB1 or LZTR1 on 22q are responsible of the phenotype. We describe a 34-year-old woman who developed multiple benign peripheral sheath tumors and a uterine leiomyosarcoma. The patient carried a de novo constitutional alteration in exon 8 of SMARCB1, c.1118G > A, which destroyed the splice donor site of intron 8. Two schwannomas and the leiomyosarcoma of the patient retained the SMARCB1 mutation; in addition, the tumors showed loss of the normal chromosome 22...
August 2015: Human Pathology
Ben Shofty, Michal Mauda-Havakuk, Lior Weizman, Shlomi Constantini, Dafna Ben-Bashat, Rina Dvir, Li-Tal Pratt, Leo Joskowicz, Anat Kesler, Michal Yalon, Lior Ravid, Liat Ben-Sira
BACKGROUND: Optic pathway gliomas (OPG) represent 5% of pediatric brain tumors and compose a major therapeutic dilemma to the treating physicians. While chemotherapy is widely used for these tumors, our ability to predict radiological response is still lacking. In this study, we use volumetric imaging to examine in detail the long-term effect of chemotherapy on the tumor as well as its various sub-components. PROCEDURE: The tumors of 15 patients with OPG, treated with chemotherapy, were longitudinally measured using our novel, previously described volumetric method...
August 2015: Pediatric Blood & Cancer
Inbal Gazy, Batia Liefshitz, Oren Parnas, Martin Kupiec
ELG1 is a conserved gene uncovered in a number of genetic screens in yeast aimed at identifying factors important in the maintenance of genome stability. Elg1's activity prevents gross chromosomal rearrangements, maintains proper telomere length regulation, helps repairing DNA damage created by a number of genotoxins and participates in sister chromatid cohesion. Elg1 is evolutionarily conserved, and its mammalian ortholog (also known as ATAD5) is embryonic lethal when lost in mice, acts as a tumor suppressor in mice and humans, exhibits physical interactions with components of the human Fanconi Anemia pathway and may be responsible for some of the phenotypes associated with neurofibromatosis...
January 2015: Mutation Research. Reviews in Mutation Research
Dong-Lai Ma, Jin Hu
A 4-year-old girl presented for evaluation of cutaneous nodules that had been present on the left side of her trunk since birth. Physical examination revealed numerous soft, nontender papules and nodules across the left upper abdomen and wrapping around to the back.
March 5, 2015: New England Journal of Medicine
Tony Ete, Sumantro Mondal, Debanjali Sinha, Jyotirmoy Pal, Alakendu Ghosh
No abstract text is available yet for this article.
January 30, 2015: New Zealand Medical Journal
Sotirios Ioannidis, Georgia-Alexandra Spyropoulou, Parviz Sadigh, Hsiang-Shun Shih, Seng-Feng Jeng
BACKGROUND: By exploring the perforating vessels that supply the soft tissues adjacent to a given defect, a perforator flap can be designed in free-style fashion. METHODS: From 2009 to 2013, 14 defects of the trunk (excluding the abdomen) were reconstructed using pedicle free-style perforator flaps at the Department of Plastic Surgery, E-Da Hospital, Taiwan. Several perforators at the periphery of the defect were detected and marked preoperatively using a handheld Doppler probe...
February 2015: Plastic and Reconstructive Surgery
Balázs Murnyák, Rita Szepesi, Tibor Hortobágyi
Although most of the central nervous system tumours are sporadic, rarely they are associated with familial tumour syndromes. These disorders usually present with an autosomal dominant inheritance and neoplasia develops at younger age than in sporadic cases. Most of these tumours are bilateral, multiplex or multifocal. The causative mutations occur in genes involved in cell cycle regulation, cell growth, differentiation and DNA repair. Studying these hereditary cancer predisposition syndromes associated with nervous system tumours can facilitate the deeper understanding of the molecular background of sporadic tumours and the development of novel therapeutic agents...
February 1, 2015: Orvosi Hetilap
Edward Kim, Yuan Wang, Sun-Jung Kim, Miriam Bornhorst, Emmanuelle S Jecrois, Todd E Anthony, Chenran Wang, Yi E Li, Jun-Lin Guan, Geoffrey G Murphy, Yuan Zhu
Individuals with neurofibromatosis type 1 (NF1) frequently exhibit cognitive and motor impairments and characteristics of autism. The cerebellum plays a critical role in motor control, cognition, and social interaction, suggesting that cerebellar defects likely contribute to NF1-associated neurodevelopmental disorders. Here we show that Nf1 inactivation during early, but not late stages of cerebellar development, disrupts neuronal lamination, which is partially caused by overproduction of glia and subsequent disruption of the Bergmann glia (BG) scaffold...
2014: ELife
Simone T Sredni, Tadanori Tomita
Rhabdoid tumors (RT), or malignant rhabdoid tumors, are among the most aggressive and lethal forms of human cancer. They can arise in any location in the body but are most commonly observed in the brain, where they are called atypical teratoid/rhabdoid tumors (AT/RT), and in the kidneys, where they are called rhabdoid tumors of the kidney. The vast majority of rhabdoid tumors present with a loss of function in the SMARCB1 gene, also known as INI1, BAF47, and hSNF5, a core member of the SWI/SNF chromatin-remodeling complex...
January 2015: Pediatric and Developmental Pathology
Miriam J Smith, Bertand Isidor, Christian Beetz, Simon G Williams, Sanjeev S Bhaskar, Wilfrid Richer, James O'Sullivan, Beverly Anderson, Sarah B Daly, Jill E Urquhart, Alan Fryer, Cecilie F Rustad, Samantha J Mills, Amir Samii, Daniel du Plessis, Dorothy Halliday, Sebastien Barbarot, Franck Bourdeaut, William G Newman, D Gareth Evans
OBJECTIVES: We aimed to determine the proportion of individuals in our schwannomatosis cohort whose disease is associated with an LZTR1 mutation. METHODS: We used exome sequencing, Sanger sequencing, and copy number analysis to screen 65 unrelated individuals with schwannomatosis who were negative for a germline NF2 or SMARCB1 mutation. We also screened samples from 39 patients with a unilateral vestibular schwannoma (UVS), plus at least one other schwannoma, but who did not have an identifiable germline or mosaic NF2 mutation...
January 13, 2015: Neurology
Charalampos Seferis, Michael Torrens, Chryssa Paraskevopoulou, Georgios Psichidis
OBJECT: The significance of radiation in the induction of malignancy in vestibular schwannomas (VSs) after radiosurgery is unclear despite an increasing number of case reports. The authors describe a new case of verified malignant transformation in a vestibular schwannoma (MTVS) and provide a new evaluation of such cases previously reported in the literature. METHODS: A 46-year-old woman underwent subtotal resection of a right-sided VS in 2004. The histological characteristics of the lesion were typical and benign...
December 2014: Journal of Neurosurgery
Kerry Latham, Edward P Buchanan, Daniel Suver, Joseph S Gruss
BACKGROUND: Neurofibromatosis is common and presents with variable penetrance and manifestations in one in 2500 to one in 3000 live births. The management of these patients is often multidisciplinary because of the complexity of the disease. Plastic surgeons are frequently involved in the surgical management of patients with head and neck involvement. METHODS: A 20-year retrospective review of patients treated surgically for head and neck neurofibroma was performed...
March 2015: Plastic and Reconstructive Surgery
Katherine A Rauen, Susan M Huson, Emma Burkitt-Wright, D Gareth Evans, Said Farschtschi, Rosalie E Ferner, David H Gutmann, C Oliver Hanemann, Bronwyn Kerr, Eric Legius, Luis F Parada, Michael Patton, Juha Peltonen, Nancy Ratner, Vincent M Riccardi, Thijs van der Vaart, Miikka Vikkula, David H Viskochil, Martin Zenker, Meena Upadhyaya
Neurofibromatosis type 1 (NF1) was the first RASopathy and is now one of many RASopathies that are caused by germline mutations in genes that encode components of the Ras/mitogen-activated protein kinase (MAPK) pathway. Their common underlying pathogenetic etiology causes significant overlap in phenotypic features which includes craniofacial dysmorphology, cardiac, cutaneous, musculoskeletal, GI and ocular abnormalities, and a predisposition to cancer. The proceedings from the symposium "Recent Developments in Neurofibromatoses (NF) and RASopathies: Management, Diagnosis and Current and Future Therapeutic Avenues" chronicle this timely and topical clinical translational research symposium...
January 2015: American Journal of Medical Genetics. Part A
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