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JOURNAL ARTICLE
Mohamed A Gharbi, Faten Limaiem, Khaled B Romdhane, Anis Tebourbi, Ramzi Bouzidi, Mouadh Nefiss
BACKGROUND: Patients with neurofibromatosis type I (NF1) have an increased risk of developing soft-tissue sarcomas, particularly those related to the nervous system. Epithelioid sarcoma (ES) is an exceptionally rare subtype of soft-tissue sarcoma, with limited knowledge about its clinical presentation and optimal management in NF1. This report aims to provide insights into the characteristics and outcomes of ES in NF1 patients. CASE DESCRIPTION: A 37-year-old man with a history of NF1 presented with a progressively worsening mass on his right inner thigh...
2024: European Journal of Case Reports in Internal Medicine
#22
REVIEW
Edward Debbaut, Jean Steyaert, Mouna El Bakkali
BACKGROUND: RASopathies are associated with an increased risk of autism spectrum disorder (ASD). For neurofibromatosis type 1 (NF1) there is ample evidence for this increased risk, while for other RASopathies this association has been studied less. No specific ASD profile has been delineated so far for RASopathies or a specific RASopathy individually. METHODS: We conducted a systematic review to investigate whether a specific RASopathy is associated with a specific ASD profile, or if RASopathies altogether have a distinct ASD profile compared to idiopathic ASD (iASD)...
April 2024: Molecular Genetics & Genomic Medicine
#23
JOURNAL ARTICLE
Takeshi Wakabayashi, Ryota Tamura, Kosuke Karatsu, Makoto Hosoya, Takanori Nishiyama, Yasuhiro Inoue, Kaoru Ogawa, Jin Kanzaki, Masahiro Toda, Hiroyuki Ozawa, Naoki Oishi
OBJECTIVES: To determine the natural history of hearing loss and tumor volume in patients with untreated neurofibromatosis type 2 (NF2)-related schwannomatosis. Moreover, we statistically examined the factors affecting hearing prognosis. METHODS: This retrospective cohort study was conducted on 37 ears of 24 patients with NF2-related vestibular schwannomatosis followed up without treatment for more than 1 year. We obtained detailed chronological changes in the PTA and tumor volume in each case over time, and the rate of change per year was obtained...
April 5, 2024: European Archives of Oto-rhino-laryngology
#24
JOURNAL ARTICLE
Jordan R Hansford, Anirban Das, Rose B McGee, Yoshiko Nakano, Jack Brzezinski, Sarah R Scollon, Surya P Rednam, Jaclyn Schienda, Orli Michaeli, Sun Young Kim, Mary-Louise C Greer, Rosanna Weksberg, Douglas R Stewart, William D Foulkes, Uri Tabori, Kristian W Pajtler, Stefan M Pfister, Garrett M Brodeur, Junne Kamihara
Tumors of the central nervous system (CNS) comprise the second most common group of neoplasms in childhood. The incidence of germline predisposition among children with brain tumors continues to grow as our knowledge on disease aetiology increases. Some children with brain tumors may present with non-malignant phenotypic features of specific syndromes (e.g. nevoid basal cell carcinoma syndrome, neurofibromatosis type 1 and type 2, DICER1 syndrome, and constitutional mismatch repair deficiency), while others may present with a strong family history of cancer (e...
April 4, 2024: Clinical Cancer Research
#25
JOURNAL ARTICLE
Kyosuke Matsunaga, Muneaki Kikuno, Hiroki Sakamoto, Hirofumi Okada, Takao Hashimoto, Shogo Honda, Jun Matsubayashi, Toshitaka Nagao, Yuko Yamada, Hajime Horiuchi, Masahiko Kuroda, Shigeo Murayama, Hiroo Terashi, Michihiro Kohno
A 31-year-old man with neurofibromatosis type 1 (NF-1) had undergone resection of a malignant peripheral nerve sheath tumor (MPNST) on the buttock 3 months previously. He subsequently underwent mechanical thrombectomy for a hyperacute left middle cerebral artery embolism. Histopathologically, the emboli comprised neurofilament-positive pleomorphic tumor cells with geographic necrosis and conspicuous mitosis and were identified as MPNST. The patient died of respiratory failure due to lung MPNST metastasis on day 15 of hospitalization...
April 2, 2024: Internal Medicine
#26
JOURNAL ARTICLE
Charles Beaman, Amir Molaie, Yasmin Ghochani, Keiko Fukuda, Catherine Peterson, Naoki Kaneko, May Nour, Viktor Szeder, Geoffrey P Colby, Satoshi Tateshima, Reza Jahan, Gary Duckwiler
BACKGROUND: Spinal epidural arteriovenous fistulas (SEDAVFs) are rarely diagnosed vascular malformations that can cause spinal cord compression and congestive myelopathy. METHODS: This is a single-center, retrospective case series of patients with SEDAVFs who underwent observation or treatment at UCLA medical center between 1993 and 2023. RESULTS: Between 1993 and 2023 a total of 26 patients at UCLA were found to have a SEDAVF. The median age at treatment was 59 years (range 4 months to 91 years)...
April 3, 2024: Journal of Neurointerventional Surgery
#27
JOURNAL ARTICLE
Diogo Catelas, Duarte Sousa, Ana Patrícia Rodrigues, Pedro Cardoso
Malignant peripheral nerve sheath tumour (MPNST) is an aggressive soft tissue sarcoma with a poor prognosis, affecting most commonly the extremities. The lungs constitute the most frequent location for distant metastases. Half of all MPNSTs arise in patients with neurofibromatosis type 1, while approximately 10% are radiation induced and the rest are sporadic.The authors present a pregnant woman in her 40s with a sporadic MPNST of the lower limb and with lung metastases at diagnosis. Treatment consisted of interilioabdominal amputation, followed by adjuvant chemotherapy...
April 3, 2024: BMJ Case Reports
#28
JOURNAL ARTICLE
Luis Lassaletta, Miryam Calvino, Miguel Díaz, José Manuel Morales-Puebla, Isabel Sánchez-Cuadrado, Isabel Varela-Nieto, Javier Gavilán
The use of cochlear implants (CIs) is on the rise for patients with vestibular schwannoma (VS). Besides CI following tumor resection, new scenarios such as implantation in observed and/or irradiated tumors are becoming increasingly common. A significant emerging trend is the need of intraoperative evaluation of the functionality of the cochlear nerve in order to decide if a CI would be placed. The purpose of this paper is to explore the experience of a tertiary center with the application of the Auditory Nerve Test System (ANTS) in various scenarios regarding VS patients...
March 23, 2024: Hearing Research
#29
Sindhura Inkollu, Nauroze Faizi, Jacob Kohlenberg
No abstract text is available yet for this article.
April 2024: JCEM Case Rep
#30
Mohammed M Al-Ali, Lubna M Al-Otaibi, Ibtissam Al-Bakr
Plexiform neurofibroma is a benign peripheral nerve sheath tumor known to be pathognomonic for neurofibromatosis type 1. However, solitary plexiform neurofibroma in the oral cavity is extremely rare. Herein, we presented a 73-year-old Saudi male with solitary plexiform neurofibroma located on the maxillary alveolar ridge, which was excised successfully using a 940 nm diode laser. Microscopic examination revealed a multinodular arrangement of benign spindle cells in a haphazard pattern. Immunohistochemical analysis showed positive staining for S100 and CD34 in the tumor cells...
February 2024: Curēus
#31
Gerilyn M Olsen, Dawn H Siegel, Olayemi Sokumbi, Yvonne E Chiu
A 4-month-old male presented for a large, hypertrichotic brown patch on the upper back with several scattered 0.5-1.5 cm, round to oval, brown macules and patches on the trunk and extremities. The lesion was initially diagnosed as a giant congenital melanocytic nevus based on clinical exam and histopathology with immunohistochemical stains. The patient was later diagnosed with neurofibromatosis type 1, and the lesion on the back developed a "bag of worms" texture consistent with a plexiform neurofibroma and found to harbor a pathogenic variant in the NF1 gene...
April 1, 2024: Pediatric Dermatology
#32
JOURNAL ARTICLE
Ayse Bahar Ercan, Melyssa Aronson, Nicholas R Fernandez, Yuan Chang, Adrian Levine, Zhihui Amy Liu, Logine Negm, Melissa Edwards, Vanessa Bianchi, Lucie Stengs, Jiil Chung, Abeer Al-Battashi, Agnes Reschke, Alex Lion, Alia Ahmad, Alvaro Lassaletta, Alyssa T Reddy, Amir F Al-Darraji, Amish C Shah, An Van Damme, Anne Bendel, Aqeela Rashid, Ashley S Margol, Bethany L Kelly, Bojana Pencheva, Brandie Heald, Brianna Lemieux-Anglin, Bruce Crooks, Carl Koschmann, Catherine Gilpin, Christopher C Porter, David Gass, David Samuel, David S Ziegler, Deborah T Blumenthal, Dennis John Kuo, Dima Hamideh, Donald Basel, Dong-Anh Khuong-Quang, Duncan Stearns, Enrico Opocher, Fernando Carceller, Hagit Baris Feldman, Helen Toledano, Ira Winer, Isabelle Scheers, Ivana Fedorakova, Jack M Su, Jaime Vengoechea, Jaroslav Sterba, Jeffrey Knipstein, Jordan R Hansford, Julieta Rita Gonzales-Santos, Kanika Bhatia, Kevin J Bielamowicz, Khurram Minhas, Kim E Nichols, Kristina A Cole, Lynette Penney, Magnus Aasved Hjort, Magnus Sabel, Maria Joao Gil-da-Costa, Matthew J Murray, Matthew Miller, Maude L Blundell, Maura Massimino, Maysa Al-Hussaini, Mazin F Al-Jadiry, Melanie A Comito, Michael Osborn, Michael P Link, Michal Zapotocky, Mithra Ghalibafian, Najma Shaheen, Naureen Mushtaq, Nicolas Waespe, Nobuko Hijiya, Noemi Fuentes-Bolanos, Olfat Ahmad, Omar Chamdine, Paromita Roy, Pavel N Pichurin, Per Nyman, Rachel Pearlman, Rebecca C Auer, Reghu K Sukumaran, Rejin Kebudi, Rina Dvir, Robert Raphael, Ronit Elhasid, Rose B McGee, Rose Chami, Ryan Noss, Ryuma Tanaka, Salmo Raskin, Santanu Sen, Scott Lindhorst, Sebastien Perreault, Shani Caspi, Shazia Riaz, Shlomi Constantini, Sophie Albert, Stanley Chaleff, Stefan Bielack, Stefano Chiaravalli, Stuart Louis Cramer, Sumita Roy, Suzanne Cahn, Suzanne Penna, Syed Ahmer Hamid, Tariq Ghafoor, Uzma Imam, Valerie Larouche, Vanan Magimairajan Issai, William D Foulkes, Yi Yen Lee, Paul C Nathan, Yosef E Maruvka, Mary-Louise C Greer, Carol Durno, Adam Shlien, Birgit Ertl-Wagner, Anita Villani, David Malkin, Cynthia Hawkins, Eric Bouffet, Anirban Das, Uri Tabori
BACKGROUND: Constitutional mismatch repair deficiency (CMMRD) syndrome is a rare and aggressive cancer predisposition syndrome. Because a scarcity of data on this condition contributes to management challenges and poor outcomes, we aimed to describe the clinical spectrum, cancer biology, and impact of genetics on patient survival in CMMRD. METHODS: In this cohort study, we collected cross-sectional and longitudinal data on all patients with CMMRD, with no age limits, registered with the International Replication Repair Deficiency Consortium (IRRDC) across more than 50 countries...
March 26, 2024: Lancet Oncology
#33
REVIEW
Francesca Marini, Francesca Giusti, Maria Luisa Brandi
Insulinoma and glucagonoma are two rare functioning neoplasms of the neuroendocrine cells of the pancreas, respectively characterized by an uncontrolled over-secretion of insulin or glucagon, responsible for the development of the hypoglycemic syndrome and the glucagonoma syndrome. They prevalently arise as sporadic tumors; only about 10% of cases develop in the context of rare inherited tumor syndromes, such as Multiple Endocrine Neoplasia Type 1 (MEN1), Neurofibromatosis type 1 (NF1), and Tuberous Sclerosis Complex (TSC), being the result of an autosomal dominant germline heterozygous loss-of-function mutation in a tumor suppressor gene...
March 1, 2024: Endocrine-related Cancer
#34
JOURNAL ARTICLE
Laura Fertitta
No abstract text is available yet for this article.
March 2024: La Revue du Praticien
#35
JOURNAL ARTICLE
Phoebe M Hammer, Angus Toland, Muhammad Shaheen, Archana Shenoy, Ashwini Esnakula, M John Hicks, Mikako Warran, Alyaa Al-Ibraheemi, Jessica L Davis, Serena Y Tan
CONTEXT.—: Perivascular epithelioid cell tumors (PEComas) are rare mesenchymal tumors of uncertain histogenesis expressing smooth muscle and melanocytic markers. The clinicopathologic spectrum in young patients is not well documented. OBJECTIVE.—: To describe a multi-institutional series of PEComas in children, adolescents, and young adults. DESIGN.—: PEComas, not otherwise specified (NOS); angiomyolipomas (AMLs); lymphangioleiomyomatosis; and clear cell sugar tumors were retrospectively identified from 6 institutions and authors' files...
March 29, 2024: Archives of Pathology & Laboratory Medicine
#36
JOURNAL ARTICLE
Bashnona Attiah, Garrett Alewine, Mary-Kate Easter, Robert A Coover, Cale D Fahrenholtz
Neurofibromatosis Type 1 (NF1) is a common neurogenic condition characterized by heterozygous loss of function mutations in the neurofibromin gene. NF1 patients are susceptible to the development of neurofibromas, including plexiform neurofibromas (pNFs), which occurs in about half of all cases. Plexiform neurofibroma are benign peripheral nerve sheath tumors originating from Schwann cells after complete loss of neurofibromin; they can be debilitating and also transform into deadly malignant peripheral nerve sheath tumors (MPNSTs)...
March 7, 2024: Pharmaceutics
#37
JOURNAL ARTICLE
Paola Borgia, Gianluca Piccolo, Andrea Santangelo, Cristina Chelleri, Gianmaria Viglizzo, Corrado Occella, Carlo Minetti, Pasquale Striano, Maria Cristina Diana
Background : Plexiform neurofibromas (pNFs) are benign neoplasms, primarily originating from Schwann cells, posing challenges in patients with type 1 neurofibromatosis (NF1) due to pain, disfigurement, compression of vital structures and potential for malignancy. Selumetinib, a MEK1/2 inhibitor, has shown promising results in treating inoperable pNFs, with clinical trials demonstrating tumor volume reduction and improved patient-reported outcomes. Despite its efficacy, dermatologic toxicities may impact the quality of life and treatment adherence...
March 20, 2024: Journal of Clinical Medicine
#38
REVIEW
Sounak Rana, Chen Ee Low, Manasadevi Karthikeyan, Mark Jean Aan Koh, Joanne Ngeow, Jianbang Chiang
BACKGROUND: Neurofibromatosis Type 1 is an autosomal dominant tumour-predisposition condition commonly diagnosed in childhood and fully penetrant by adulthood. Long-term monitoring through imaging is inconsistent and varies between high- and low-income countries. Implementation of a clinical practice guideline through a multidisciplinary clinic is instrumental to the care of adult Neurofibromatosis Type 1 patients. We aim to systematically review international diagnostic modalities and strategies to evaluate any association between a country's socioeconomic status and diagnostic modalities or strategies used for Neurofibromatosis Type 1 patients...
March 11, 2024: Cancers
#39
REVIEW
Tim Hems, Antonina Parafioriti, Binu P Thomas, Andrea Di Bernardo
This article reviews the pathology and management of peripheral nerve tumours, including a framework for investigation and decision-making. Most tumours are benign, including schwannomas and neurofibromas, but malignant peripheral nerve sheath tumours can occur. The risk of malignant change is remote for schwannomas but higher for neurofibromas, particularly in neurofibromatosis type 1. Magnetic resonance imaging is useful for defining the relationship of a swelling with adjacent nerves but is not definitive for tissue diagnosis...
March 27, 2024: Journal of Hand Surgery, European Volume
#40
JOURNAL ARTICLE
Mohammed Almuqbil, Fatimah Yaseen Alshaikh, Waleed Altwaijri, Duaa Baarmah, Raid Harb Hommady, Maryam Yaseen Alshaikh, Fares Alammari, Meshal Alhussain, Reem Almotawa, Faris Alqarni, Amna Kashgari, Rayan Alkhodair, Jumanah N Alkhater, Lujeen Nasser Alkhater, Sawsan A Alharthi, Mada Abdulkarim Alsadi, Ahmed AlRumayyan
PURPOSE: The aim of this manuscript was to assess the epidemiology and clinical features of Neurofibromatosis type 1 (NF-1) based on the newly published revised NF-1 diagnostic criteria and to evaluate complications of NF-1 including neurodevelopmental disorders. PATIENTS AND METHODS: A retrospective cross-sectional observational study was conducted in the Ministry of National Guard Health Affairs (MNGHA) healthcare organization branches including four tertiary hospitals and 51 primary health care centers in different regions in Saudi Arabia...
2024: Journal of Multidisciplinary Healthcare
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