المؤلفون: Galbraith, Kristyn, Vasudevaraja, Varshini, Serrano, Jonathan, Shen, Guomiao, Tran, Ivy, Abdallat, Nancy, Wen, Mandisa, Patel, Seema, Movahed-Ezazi, Misha, Faustin, Arline, Spino-Keeton, Marissa, Roberts, Leah Geiser, Maloku, Ekrem, Drexler, Steven A, Liechty, Benjamin L, Pisapia, David, Krasnozhen-Ratush, Olga, Rosenblum, Marc, Shroff, Seema, Boué, Daniel R, Davidson, Christian, Mao, Qinwen, Suchi, Mariko, North, Paula, Hopp, Amanda, Segura, Annette, Jarzembowski, Jason A, Parsons, Lauren, Johnson, Mahlon D, Mobley, Bret, Samore, Wesley, McGuone, Declan, Gopal, Pallavi P, Canoll, Peter D, Horbinski, Craig, Fullmer, Joseph M, Farooqi, Midhat S, Gokden, Murat, Wadhwani, Nitin R, Richardson, Timothy E, Umphlett, Melissa, Tsankova, Nadejda M, DeWitt, John C, Sen, Chandra, Placantonakis, Dimitris G, Pacione, Donato, Wisoff, Jeffrey H, Teresa Hidalgo, Eveline, Harter, David, William, Christopher M

المساهمون: Friedberg Charitable Foundation, Gray Family Foundation, Sohn Conference Foundation, Molly Markoff Foundation, Making Headway Foundation, National Institutes of Heath, National Cancer Institute Cancer Center

المصدر: Neuro-Oncology Advances ; volume 5, issue 1 ; ISSN 2632-2498

مصطلحات موضوعية: Surgery, Oncology, Neurology (clinical)

الوصف: Background Central nervous system (CNS) cancer is the 10th leading cause of cancer-associated deaths for adults, but the leading cause in pediatric patients and young adults. The variety and complexity of histologic subtypes can lead to diagnostic errors. DNA methylation is an epigenetic modification that provides a tumor type-specific signature that can be used for diagnosis. Methods We performed a prospective study using DNA methylation analysis as a primary diagnostic method for 1921 brain tumors. All tumors received a pathology diagnosis and profiling by whole genome DNA methylation, followed by next-generation DNA and RNA sequencing. Results were stratified by concordance between DNA methylation and histopathology, establishing diagnostic utility. Results Of the 1602 cases with a World Health Organization histologic diagnosis, DNA methylation identified a diagnostic mismatch in 225 cases (14%), 78 cases (5%) did not classify with any class, and in an additional 110 (7%) cases DNA methylation confirmed the diagnosis and provided prognostic information. Of 319 cases carrying 195 different descriptive histologic diagnoses, DNA methylation provided a definitive diagnosis in 273 (86%) cases, separated them into 55 methylation classes, and changed the grading in 58 (18%) cases. Conclusions DNA methylation analysis is a robust method to diagnose primary CNS tumors, improving diagnostic accuracy, decreasing diagnostic errors and inconclusive diagnoses, and providing prognostic subclassification. This study provides a framework for inclusion of DNA methylation profiling as a primary molecular diagnostic test into professional guidelines for CNS tumors. The benefits include increased diagnostic accuracy, improved patient management, and refinements in clinical trial design.

الإتاحة: https://doi.org/10.1093/noajnl/vdad076Test
https://academic.oup.com/noa/article-pdf/5/1/vdad076/51735299/vdad076.pdfTest

المؤلفون: Freij, Bishara J., Gebara, Bassam M., Tariq, Rabail, Wang, Ay-Ming, Gibson, John, El-Wiher, Nidal, Krasan, Graham, Patek, Paul M., Levasseur, Kelly A., Amin, Mitual, Fullmer, Joseph M.

المصدر: BMC Pediatrics ; volume 20, issue 1 ; ISSN 1471-2431

مصطلحات موضوعية: Pediatrics, Perinatology and Child Health

الوصف: Background Central and peripheral nervous system symptoms and complications are being increasingly recognized among individuals with pandemic SARS-CoV-2 infections, but actual detection of the virus or its RNA in the central nervous system has rarely been sought or demonstrated. Severe or fatal illnesses are attributed to SARS-CoV-2, generally without attempting to evaluate for alternative causes or co-pathogens. Case presentation A five-year-old girl with fever and headache was diagnosed with acute SARS-CoV-2-associated meningoencephalitis based on the detection of its RNA on a nasopharyngeal swab, cerebrospinal fluid analysis, and magnetic resonance imaging findings. Serial serologic tests for SARS-CoV-2 IgG and IgA showed seroconversion, consistent with an acute infection. Mental status and brain imaging findings gradually worsened despite antiviral therapy and intravenous dexamethasone. Decompressive suboccipital craniectomy for brain herniation with cerebellar biopsy on day 30 of illness, shortly before death, revealed SARS-CoV-2 RNA in cerebellar tissue using the Centers for Disease Control and Prevention 2019-nCoV Real-Time Reverse Transcriptase-PCR Diagnostic Panel. On histopathology, necrotizing granulomas with numerous acid-fast bacilli were visualized, and Mycobacterium tuberculosis complex DNA was detected by PCR. Ventricular cerebrospinal fluid that day was negative for mycobacterial DNA. Tracheal aspirate samples for mycobacterial DNA and culture from days 22 and 27 of illness were negative by PCR but grew Mycobacterium tuberculosis after 8 weeks, long after the child’s passing. She had no known exposures to tuberculosis and no chest radiographic findings to suggest it. All 6 family members had normal chest radiographs and negative interferon-γ release assay results. The source of her tuberculous infection was not identified, and further investigations by the local health department were not possible because of the State of Michigan-mandated lockdown for control of SARS-CoV-2 spread. ...

الإتاحة: https://doi.org/10.1186/s12887-020-02308-1Test

المؤلفون: Woltjer, Randall L., Duerson, Kevin, Fullmer, Joseph M., Mookherjee, Paramita, Ryan, Allison M., Montine, Thomas J., Kaye, Jeffrey A., Quinn, Joseph F., Silbert, Lisa, Erten-Lyons, Deniz, Leverenz, James B., Bird, Thomas D., Pow, David V., Tanaka, Kohichi, Watson, G. Stennis, Cook, David G.

المصدر: Journal of Neuropathology & Experimental Neurology ; volume 69, issue 7, page 667-676 ; ISSN 0022-3069 1554-6578

مصطلحات موضوعية: Cellular and Molecular Neuroscience, Neurology (clinical), Neurology, General Medicine, Pathology and Forensic Medicine

الإتاحة: https://doi.org/10.1097/nen.0b013e3181e24adbTest

المؤلفون: Hoffman, Haydn A., Toshkezi, Gentian, Fullmer, Joseph M., Hall, Walter, Chin, Lawrence S.

المصدر: World Neurosurgery ; volume 106, page 536-542 ; ISSN 1878-8750

مصطلحات موضوعية: Neurology (clinical), Surgery

الإتاحة: https://doi.org/10.1016/j.wneu.2017.07.023Test
https://api.elsevier.com/content/article/PII:S1878875017311233?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S1878875017311233?httpAccept=text/plainTest

المؤلفون: Fullmer, Joseph M., Riedl, Maureen, Williams, Frank G., Sandrin, Mauro, Elde, Robert

المصدر: Journal of Comparative Neurology ; volume 501, issue 1, page 70-82 ; ISSN 0021-9967 1096-9861

الوصف: The isolectin B 4 (IB4) stains a subset of small and medium‐sized dorsal root ganglion (DRG) neurons by binding to terminal α‐galactose on glycoproteins and glycolipids. The enzymes α(1,3)galactosyltransferase (1,3GT) and isoglobotriaosylceramide synthase (iGb3S) synthesize the galactose‐α(1,3)‐galactose group, which is the most common carbohydrate containing terminal α‐galactose. 1,3GT preferentially glycosylates proteins whereas iGb3S glycosylates lipids. We generated antibodies against rat 1,3GT and iGb3S that were used for immunohistochemical staining of DRG cells. Virtually all neurons that bound IB4 expressed both enzymes, suggesting that IB4 binds to both glycoproteins and glycolipids in IB4‐positive neurons. 1,3GT immunoreactivity was observed in small and medium‐sized neurons and satellite cells. iGb3S immunoreactivity was observed in neurons of varying sizes. Many neurons that expressed these enzymes did not bind IB4. Additionally, the majority of neurons that expressed substance P expressed both enzymes but did not bind IB4. Ultrastructual studies revealed that 1,3GT was predominantly associated with the Golgi apparatus, whereas iGb3S was found near the Golgi apparatus and in large, clear vesicles throughout the soma. These data suggest that, although expression of 1,3GT and/or iGb3S appears to be necessary for IB4 binding, expression of these enzymes is not sufficient to impart IB4 binding. J. Comp. Neurol. 501:70–82, 2007. © 2007 Wiley‐Liss, Inc.

الإتاحة: https://doi.org/10.1002/cne.21233Test

المؤلفون: Fullmer, Joseph M., Scarfe, William C., Kushner, George M., Alpert, Brian, Farman, Allan G.

المصدر: British Journal of Oral and Maxillofacial Surgery ; volume 45, issue 5, page 364-371 ; ISSN 0266-4356

مصطلحات موضوعية: Otorhinolaryngology, Oral Surgery, Surgery

الإتاحة: https://doi.org/10.1016/j.bjoms.2006.10.009Test
https://api.elsevier.com/content/article/PII:S0266435606001987?httpAccept=text/xmlTest
https://api.elsevier.com/content/article/PII:S0266435606001987?httpAccept=text/plainTest

المؤلفون: Fullmer, Joseph M., Riedl, Maureen S., Higgins, LeeAnn, Elde, Robert

المصدر: NeuroReport ; volume 15, issue 11, page 1705-1709 ; ISSN 0959-4965

الإتاحة: https://doi.org/10.1097/01.wnr.0000136037.54095.64Test
http://journals.lww.com/00001756-200408060-00003Test