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Autor:
Kristina L. Hunker, Yu Wang, James C. Stanley, Min-Lee Yang, Isabelle Birt, Ingrid L. Bergin, Dawn M. Coleman, Santhi K. Ganesh, Jun Li
Publikováno v:
Hum Mol Genet
The etiology of renal artery stenosis (RAS) and abdominal aortic coarctation (AAC) causing the midaortic syndrome (MAS), often resulting in renovascular hypertension (RVH), remains ill-defined. Neurofibromatosis type 1 (NF-1) is frequently observed i
Autor:
Joseph Laakman, Kyle S Conway, John L Blau, Amy C Gottschalk, Marcus B. Nashelsky, Renee L Eigsti, Marco M. Hefti, Fozia Ghafoor
Publikováno v:
J Neuropathol Exp Neurol
1p36 deletion syndrome is the most common terminal deletion syndrome, manifesting clinically as abnormal facies and developmental delay with frequent cardiac, skeletal, urogenital, and renal abnormalities. Limited autopsy case reports describe the ne
Autor:
Margaret Fink, Carsten G. Bönnemann, Gina Norato, Diana Bharucha-Goebel, Sandra Donkervoort, A. Reghan Foley, G. Averion, Victoria Biancavilla, Sarah Debs, Dimah Saade, Eduardo Paredes, Ying Hu, Minal S. Jain, Rupleen Kaur, Wadih M. Zein, Diane Armao, M. Waite, Steven J. Gray, Tanya J. Lehky
Publikováno v:
Brain
Giant axonal neuropathy (GAN) is an ultra-rare autosomal recessive, progressive neurodegenerative disease with early childhood onset that presents as a prominent sensorimotor neuropathy and commonly progresses to affect both the peripheral nervous sy
Autor:
Yuko Matsushita, Yuki Arakawa, Katsuyoshi Koh, Yuko Hibiya, Koichi Ichimura, Junko Hirato, Yutaka Tanami, Takamasa Hiraki, Atsuko Nakazawa, Kohei Fukuoka, Makiko Mori, Masao Kobayashi, Satoko Honda, Jun Kurihara
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 80:552-557
Recurrent medulloblastoma can be difficult to diagnose with conventional diagnostic methods because other lesions mimic tumor relapse, particularly at later stages. We report 2 cases of medulloblastoma, both of which seemed to develop late recurrence
Autor:
Xiao Xiao, Hongqi Zhang, Gao Zeng, Xinru Xiao, Jie Tang, Guilin Li, Jian Ren, Yuru Zong, Wei Yukui, Yibo Wang, Nan Jiang, Jiantao Liang, Shan Yongzhi, Peng Hu, Ming Ye, Zqi Kou, Jian Zou, Hao Wu, Bing Cui, Guolu Meng, Liyong Sun, Zan Chen, Tao Hong, Rutai Hui
Publikováno v:
Brain. 144:2648-2658
Cavernous malformations affecting the CNS occur in ∼0.16–0.4% of the general population. The majority (85%) of cavernous malformations are in a sporadic form, but the genetic background of sporadic cavernous malformations remains enigmatic. Of th
Publikováno v:
Am J Clin Pathol
Objectives The SWI/SNF complex core subunit SMARCB1 is inactivated in a variety of neoplasms that share characteristic “rhabdoid” cytomorphology. The aim of this study was to evaluate SMARCB1-deficient soft tissue neoplasms on cytology to identif
Autor:
Johannes A. Hainfellner, Victoria-Elisabeth Gruber, Thomas Czech, Angelika Mühlebner, Martha Feucht, Gregor Kasprian, Theresa Scholl, Lisette Hoogendijk, Eleonora Aronica, Sharon Samueli, Roy J. Reinten, Reinhard Lehner
Publikováno v:
Journal of neuropathology and experimental neurology, 80(3), 274-282. Lippincott Williams and Wilkins
Complex cortical malformations (CCMs), such as hemimegalencephaly and polymicrogyria, are associated with drug-resistant epilepsy and developmental impairment. They share certain neuropathological characteristics including mammalian target of rapamyc
Publikováno v:
Journal of the Pediatric Infectious Diseases Society. 10:698-701
A 23-month old female with hypoplastic myelodysplastic syndrome underwent allogenic hematopoietic cell transplantation (HCT), complicated by development of acute exotropia. Bilateral chorioretinal scars and a ring enhancing brain lesion were identifi
Autor:
Guangming Fan, Yuming Jiao, Yong Cao, Weilun Fu, Hongyuan Xu, Jizong Zhao, Jie Wang, Hao Li, Ran Huo, Jiancong Weng, Zihan Yan, Shuo Wang
Publikováno v:
Journal of Neuropathology & Experimental Neurology. 80:71-78
Brain arteriovenous malformations (bAVMs) are congenital anomalies of blood vessels that cause intracranial hemorrhage in children and young adults. Chromosomal rearrangements and fusion genes play an important role in tumor pathogenesis, though the
Publikováno v:
American Journal of Clinical Pathology. 155:97-105
ObjectivesDiagnosis of mycobacterial infections poses significant challenges in anatomic pathology. We recently described the use of antimycobacteria immunohistochemistry (IHC) as a sensitive, efficient diagnostic tool and now report the clinical per