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JOURNAL ARTICLE
Arnault Tauziède-Espariat, Julien Masliah-Planchon, Philipp Sievers, Felix Sahm, Volodia Dangouloff-Ros, Nathalie Boddaert, Lauren Hasty, Oumaima Aboubakr, Alice Métais, Fabrice Chrétien, Alexandre Roux, Johan Pallud, Thomas Blauwblomme, Kévin Beccaria, Franck Bourdeaut, Stéphanie Puget, Pascale Varlet
Meningioangiomatosis (MAM) remains a poorly understood lesion responsible for epileptic disease. In the past, MAM was primarily described in the context of neurofibromatosis type 2 before being mainly reported sporadically. Moreover, the malformative or tumoral nature is still debated. Because a subset of MAM are associated with meningiomas, some authors argue that MAM corresponds to an infiltration pattern of these tumors. For these reasons, MAM has not been added to the World Health Organization (WHO) Classification of Central Nervous System Tumors as a specific entity...
April 2, 2024: Brain Pathology
#2
JOURNAL ARTICLE
Lulu Fan, Hao Wang, Shuai Ben, Yifei Cheng, Silu Chen, Zhutao Ding, Lingyan Zhao, Shuwei Li, Meilin Wang, Gong Cheng
Genetic variants in super-enhancers (SEs) are increasingly implicated as a disease risk-driving mechanism. Previous studies have reported an associations between benzo[a]pyrene (BaP) exposure and some malignant tumor incidences. Currently, it is unclear whether BaP is involved in the effect of genetic variants in SEs on prostate cancer risk, nor the associated intrinsic molecular mechanisms. In the current study, we used logistic regression analysis and found that rs5057581 in 22q-SE significantly increased prostate cancer risk (odds ratio = 1...
February 28, 2024: Journal of Biomedical Research
#3
JOURNAL ARTICLE
Atsushi Okano, Satoru Miyawaki, Yu Teranishi, Hiroki Hongo, Shogo Dofuku, Kenta Ohara, Yu Sakai, Masahiro Shin, Hirofumi Nakatomi, Nobuhito Saito
BACKGROUND AND OBJECTIVES: Recent molecular analyses have shown that the driver genetic mutations of meningiomas were associated with the anatomic location. Among these, POLR2A mutation is common among lesions in the skull base, mainly in the cerebellopontine angle (CPA). The objective of this study was to investigate the efficacy of POLR2A mutation as a prognostic marker for CPA meningiomas. METHODS: We retrospectively analyzed the clinical data of 70 patients who had World Health Organization grade I CPA meningiomas...
February 21, 2024: Neurosurgery
#4
JOURNAL ARTICLE
Sina Neyazi, Erika Yamazawa, Karoline Hack, Shota Tanaka, Genta Nagae, Catena Kresbach, Takayoshi Umeda, Alicia Eckhardt, Kenji Tatsuno, Lara Pohl, Taijun Hana, Michael Bockmayr, Phyo Kim, Mario M Dorostkar, Toshihiro Takami, Denise Obrecht, Keisuke Takai, Abigail K Suwala, Takashi Komori, Shweta Godbole, Annika K Wefers, Ryohei Otani, Julia E Neumann, Fumi Higuchi, Leonille Schweizer, Yuta Nakanishi, Camelia-Maria Monoranu, Hirokazu Takami, Lara Engertsberger, Keisuke Yamada, Viktoria Ruf, Masashi Nomura, Theresa Mohme, Akitake Mukasa, Jochen Herms, Shunsaku Takayanagi, Martin Mynarek, Reiko Matsuura, Katrin Lamszus, Kazuhiko Ishii, Lan Kluwe, Hideaki Imai, Andreas von Deimling, Tsukasa Koike, Martin Benesch, Yoshihiro Kushihara, Matija Snuderl, Shohei Nambu, Stephan Frank, Takaki Omura, Christian Hagel, Kazuha Kugasawa, Viktor F Mautner, Koichi Ichimura, Stefan Rutkowski, Hiroyuki Aburatani, Nobuhito Saito, Ulrich Schüller
Ependymomas encompass multiple clinically relevant tumor types based on localization and molecular profiles. Tumors of the methylation class "spinal ependymoma" (SP-EPN) represent the most common intramedullary neoplasms in children and adults. However, their developmental origin is ill-defined, molecular data are scarce, and the potential heterogeneity within SP-EPN remains unexplored. The only known recurrent genetic events in SP-EPN are loss of chromosome 22q and NF2 mutations, but neither types and frequency of these alterations nor their clinical relevance have been described in a large, epigenetically defined series...
January 24, 2024: Acta Neuropathologica
#5
Imane Joudar, Siham Nasri, Narjisse Aichouni, Imane Kamaoui, Imane Skiker
INTRODUCTION: Vestibular schwannoma (VS) is a benign tumor that develops from Schwann cells of the eighth cranial pair, mainly in the cerebellopontine angle. CASE PRESENTATION: We report the case of a 30-year-old female patient who developed left otalgia associated with neglected tinnitus, the evolution of which was marked by the development of a static cerebellar syndrome and a behavioral disorder, whose brain MRI revealed a locally advanced process in the cerebellopontine angle at the expense of the vestibulocochlear nerve, in favor of a VS, complicated by involvement of the tonsils, which unfortunately led to the patient's death...
December 2023: Annals of Medicine and Surgery
#6
JOURNAL ARTICLE
Yeh Wang, Christopher Douville, Yen-Wei Chien, Brant G Wang, Chi-Long Chen, Andre Pinto, Saron Ann Smith, Ronny Drapkin, M Herman Chui, Tricia Numan, Russell Vang, Nickolas Papadopoulos, Tian-Li Wang, Ie-Ming Shih
PURPOSE: Serous tubal intraepithelial carcinoma(STIC) is now recognized as the main precursor of ovarian high-grade serous carcinoma(HGSC). Other potential tubal lesions include p53 signatures and tubal intraepithelial lesions. We aimed to investigate the extent and pattern of aneuploidy in these epithelial lesions and HGSC to define the features that characterize stages of tumor initiation and progression. EXPERIMENTAL DESIGN: We applied RealSeqS to compare genome-wide aneuploidy patterns among the precursors, HGSC(cases, n=85), and histologically unremarkable fallopian tube epithelium(HU-FTE, control, n=65)...
December 1, 2023: Clinical Cancer Research
#7
Melissa A Hicks, Emilie Lalonde, Jessica Zoladz, Bernard Gonik, Salah Ebrahim
Concurrent microduplication and microdeletion of the chromosome 22q11.2 region are a rarely reported phenomenon. We describe a case of germline 22q11.21 microduplication syndrome with concurrent mosaic 22q11.2 deletion in a pregnant patient, identified by chromosomal microarray and FISH after noninvasive prenatal genetic screening (cfDNA) results discordant with family history. The patient was referred to maternal-fetal medicine (MFM) at 14 weeks' gestation secondary to an SNP-based cfDNA result of a suspected maternal 22q11...
2023: Case Reports in Genetics
#8
JOURNAL ARTICLE
Kathleen P O'Hora, Leila Kushan-Wells, Charles H Schleifer, Shayne Cruz, Gil D Hoftman, Maria Jalbrzikowski, Raquel E Gur, Ruben C Gur, Carrie E Bearden
Rare genetic variants that confer large effects on neurodevelopment and behavioral phenotypes can reveal novel gene-brain-behavior relationships relevant to autism. Copy number variation at the 22q11.2 locus offer one compelling example, as both the 22q11.2 deletion (22qDel) and duplication (22qDup) confer increased likelihood of autism spectrum disorders (ASD) and cognitive deficits, but only 22qDel confers increased psychosis risk. Here, we used the Penn Computerized Neurocognitive Battery (Penn-CNB) to characterized neurocognitive profiles of 126 individuals: 55 22qDel carriers (MAge = 19...
November 23, 2023: Autism Research: Official Journal of the International Society for Autism Research
#9
JOURNAL ARTICLE
Aisha Kousar, Abigail I Wald, Michelle Heayn, Nicholas D Cardillo, Esther Elishaev, Rohit Bhargava
We present a case of uterine dedifferentiated leiomyosarcoma in a 42-yr-old woman who presented with severe abdominal pain and vaginal bleeding. The mass measured 10.5 cm. The "differentiated" tumor component ranged from leiomyoma-like areas to smooth muscle tumor of uncertain malignant potential to frank leiomyosarcoma. The undifferentiated tumor component showed extreme hypercellularity, intermediate to large polygonal cells, with significant cytologic atypia and numerous mitotic figures (67 mitotic figures per 10 high-power fields)...
September 8, 2023: International Journal of Gynecological Pathology
#10
JOURNAL ARTICLE
Africa Manero-Azua, Arrate Pereda, Isabel Llano-Rivas, Intza Garin, Guiomar Perez de Nanclares
Introduction: Since the advent of new generation sequencing, professionals are aware of the possibility of obtaining findings unrelated to the pathology under study. However, this possibility is usually forgotten in the case of studies aimed at a single gene or region. We report a case of a 16-month-old girl with clinical suspicion of Silver-Russell syndrome (SRS). Methods: Following the international SRS consensus, methylation alterations and copy number variations (CNVs) at 11p15 region and maternal uniparental disomy of chromosome 7 were analysed and discarded by MS-MLPA...
2023: Frontiers in Genetics
#11
JOURNAL ARTICLE
Tunç Tuncel, Muzaffer Metintas, A K Güntülü, Hasan Veysi Güneş
Malignant pleural mesothelioma (MPM) is rare and aggressive cancer. The most important risk factor for MPM is exposure to asbestos. In this study, we scanned the genomes of individuals MPM and asbestos-induced chronic pleuritis (AICP) to compare and determine copy number alterations (CNAs) between two asbestos-related diseases. We used high-resolution SNP arrays to compare CNA profiles between MPM (n = 55) and AICP (n = 18). DNAs extracted from pleural tissues in both groups. SNP array analysis revealed common losses at 1p, 3p, 6q, 9p, 13q, 14q, 15q, 16q, 22q and frequent gains at chromosomes 1, 3, 5, 7, 8, and 6p, 12q, 15q, 17p, 20q in MPMs (frequencies max 67%-min 30%; these alterations were not detected in AICPs...
2024: Journal of Environmental Pathology, Toxicology and Oncology
#12
REVIEW
Martin Planet, Michel Kalamarides, Matthieu Peyre
PURPOSE OF REVIEW: In 2022, an international consensus recommendation revised the nomenclature for neurofibromatosis type 2 ( NF2 ) and Schwannomatosis (SWN), now grouped under the umbrella term Schwannomatosis, and defined new diagnostic criteria. RECENT FINDINGS: This review describes the molecular criteria for diagnosis of schwannomatosis and the subsequent diagnosis strategy, while setting out the most recent advances in our understanding of the natural history, pathology, molecular biology and treatment of schwannomatosis-associated tumors, including schwannomas, meningiomas and ependymomas...
November 1, 2023: Current Opinion in Oncology
#13
JOURNAL ARTICLE
Joseph Driver, Sandro Santagata, Wenya Linda Bi, John H Chi
OBJECTIVE: Spinal meningiomas are one of the most common primary intradural tumors of the adult spine. Spinal meningiomas typically have a benign course with low rates of recurrence. Recent advances in genomic profiling have provided valuable information on meningioma biology and natural history, but these studies have focused primarily on cranial meningiomas. Chromosomal copy number analysis of meningiomas has been shown to be a valuable molecular profiling technique for distinguishing benign from aggressive tumors...
August 25, 2023: Journal of Neurosurgery. Spine
#14
JOURNAL ARTICLE
David G Ingram, Meghan Tracy, Janelle Noel-MacDonnell, Jana M Ghulmiyyah, Jill M Arganbright
PURPOSE: 22q11.2 deletion syndrome (22q11.2DS) is the most common microdeletion syndrome. In the current study, we assessed the relationship between parent-reported symptoms of obstructive sleep apnea (OSA) and polysomnographic (PSG) results in patients with 22q11.2DS. Additionally, we explored the relationships between genetic diagnosis, serum calcium and ferritin levels, and PSG results. METHODS: Retrospective chart review was completed for patients enrolled in our 22q Center's registry from 2015-2021...
August 1, 2023: Sleep & Breathing
#15
JOURNAL ARTICLE
Justin Z Wang, Farshad Nassiri, Christian Mawrin, Gelareh Zadeh
Despite being the most common primary brain tumor in adults, until recently, the genomics of meningiomas have remained quite understudied. In this chapter we will discuss the early cytogenetic and mutational changes uncovered in meningiomas, from the discovery of the loss of chromosome 22q and the neurofibromatosis-2 (NF2) gene to other non-NF2 driver mutations (KLF4, TRAF7, AKT1, SMO, etc.) discovered using next generation sequencing. We discuss each of these alterations in the context of their clinical significance and conclude the chapter by reviewing recent multiomic studies that have integrated our knowledge of these alterations together to develop novel molecular classifications for meningiomas...
2023: Advances in Experimental Medicine and Biology
#16
Chih-Ping Chen, Jenn-Jhy Tseng, Fang-Tzu Wu, Yen-Ting Pan, Peih-Shan Wu, Schu-Rern Chern, Chen-Chi Lee, Wayseen Wang
OBJECTIVE: We present genetic counseling, prenatal diagnosis and postnatal follow-up of 45,XY,der(15;22)(q10;q10)mat/46,XY,i(15)(q10)/46,XY at amniocentesis in a pregnancy with a favorable fetal outcome. CASE REPORT: A 27-year-old, primigravid woman underwent amniocentesis at 19 weeks of gestation because increased nuchal translucency thickness, and the result was 45,XY,der(15;22)(q10;q10)[29]/46,XY,i(15)(q10)[3]/46,XY[5]. Simultaneous array comparative genomic hybridization (aCGH) analysis on the DNA extracted from uncultured amniocytes revealed arr (1-22) × 2, (X,Y) × 1...
July 2023: Taiwanese Journal of Obstetrics & Gynecology
#17
JOURNAL ARTICLE
Keiichi Ohshima, Takeshi Nagashima, Keiichi Fujiya, Keiichi Hatakeyama, Yuko Watanabe, Kimiko Morimoto, Fukumi Kamada, Yuji Shimoda, Sumiko Ohnami, Akane Naruoka, Masakuni Serizawa, Shumpei Ohnami, Hirotsugu Kenmotsu, Akio Shiomi, Yasuhiro Tsubosa, Etsuro Bando, Teiichi Sugiura, Takashi Sugino, Masanori Terashima, Katsuhiko Uesaka, Kenichi Urakami, Yasuto Akiyama, Ken Yamaguchi
UNLABELLED: Gastrointestinal stromal tumors (GIST) with KIT exon 11 deletions involving in codons 557-558 ( KIT Δ557-558) exhibit higher proliferation rates and shorter disease-free survival times compared with GISTs with other KIT exon 11 mutations. We analyzed 30 GIST cases and observed genomic instability and global DNA hypomethylation only in high-risk malignant GISTs with KIT Δ557-558. Whole-genome sequencing revealed that the high-risk malignant GISTs with KIT Δ557-558 (12 cases) had more structural variations (SV), single-nucleotide variants, and insertions and deletions compared with the low-risk, less malignant GISTs with KIT Δ557-558 (six cases) and the high-risk (six cases) or low-risk (6 cases) GISTs with other KIT exon 11 mutations...
April 2023: Cancer Res Commun
#18
JOURNAL ARTICLE
Alice T Wang, Anne F Hseu, Steven J Staffa, Roseanne E Clark, John G Meara, Roger C Nuss, Ingrid M Ganske, Carolyn R Rogers-Vizena
BACKGROUND: Management of velopharyngeal insufficiency (VPI) in 22q11.2 deletion syndrome (22q) is challenging. This study compares pharyngeal flap outcomes in children with 22q to those with non-syndromic cleft lip and palate (CLP) to assess risk of poor speech outcomes and negative sequelae. METHODS: Children with 22q or CLP treated with pharyngeal flap through a multidisciplinary VPI clinic between 2009 and 2020 were retrospectively reviewed. Pre- and postoperative speech assessments, perioperative characteristics, and complications were identified...
June 20, 2023: Plastic and Reconstructive Surgery
#19
JOURNAL ARTICLE
Simina Bogatan, Andrea Shugar, Syed Wasim, Susan Ball, Cathryn Schmidt, David Chitayat, Cheryl Shuman, Cheryl Cytrynbaum
OBJECTIVE: To develop and evaluate a storytelling communication facilitation tool designed to help parents overcome barriers to discussing a complex multisystem genetic diagnosis with their affected children, using 22q11.2 deletion syndrome (22q11DS) as an exemplar condition. METHODS: A story telling communication facilitation tool (SCFT), entitled 22q and Me , was developed for a target audience of children with 22q11DS aged 9 to 12. The SCFT was evaluated by 14 parents to assess usability and utility by comparing responses to survey questions before and after viewing the SCFT, using a Likert scale...
December 2023: PEC Innov
#20
Tony Xu, Dorris Luong, Ning Zhong
Understanding the genetic basis of epilepsy may lead to an improved understanding of its etiology, more precise medical management, and ultimately improved outcomes. It is imperative for patients with epilepsy to obtain a molecular diagnosis, especially when strong familial epilepsy is discovered. We investigated a multi-generational family with epilepsy. The proband was a 19-year-old female who experienced focal onset seizures, with presenting symptoms of feeling dizzy, disorientation, and loss of consciousness...
March 2023: Curēus
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