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Autor:
Jose Marquez, Zayd Al Rawi, Elizabeth C. Bryda, Daniel J. Davis, Mona O. Garro-Kacher, Caley E. Smith, Christian L. Lorson, Catherine L Smith, Nicole L. Nichols, Amy N Keilholz, Jiude Mao, Eric Villalón, Sara M. Ricardez Hernandez, Toni I. Morcos, Monique A. Lorson
Publikováno v:
Hum Mol Genet
Spinal muscular atrophy with respiratory distress type I (SMARD1) is a neurodegenerative disease defined by respiratory distress, muscle atrophy and sensory and autonomic nervous system defects. SMARD1 is a result of mutations within the IGHMBP2 gene
Autor:
Michael Ziskind, Benoit Fatou, Emmanuel Bouchaert, Delphine Bertin, Nina Ogrinc, Yves-Marie Robin, Dominique Tierny, Cristian Focsa, Isabelle Fournier, Pierre-Damien Caux, Michel Salzet, Zoltan Takats
Publikováno v:
Clinical chemistry
Clinical chemistry, 2021, 67 (11), pp.1513-1523. ⟨10.1093/clinchem/hvab160⟩
Clinical chemistry, 2021, 67 (11), pp.1513-1523. ⟨10.1093/clinchem/hvab160⟩
Background Formalin-fixed paraffin-embedded (FFPE) tissue has been the gold standard for routine pathology for general and cancer postoperative diagnostics. Despite robust histopathology, immunohistochemistry, and molecular methods, accurate diagnosi
Histologic Analysis of Urethral Stricture in 9 Patients Following Dorsal Vaginal Graft Urethroplasty
Publikováno v:
American Journal of Clinical Pathology. 157:742-747
Objective To present the pathologic analysis of female urethral strictures obtained during reconstructive urethroplasty. Methods Nine separate female urethral tissue specimens were obtained during dorsal vaginal graft urethroplasty by a single surgeo
Autor:
Claudia F. Lucchinetti, Sean J. Pittock, Yong Guo, Vanda A. Lennon, Charles L. Howe, Joseph E. Parisi, Christina Vasquez, Bogdan F. Gh. Popescu
Publikováno v:
Brain. 145:1379-1390
Neuromyelitis optica is an autoimmune inflammatory disorder targeting aquaporin-4 water channels in CNS astrocytes. Histopathological descriptions of astrocytic lesions reported in neuromyelitis optica so far have emphasized a characteristic loss of
Autor:
Fausto J. Rodriguez, Roxana Rivera, Jonathan Levi, Avi Z. Rosenberg, Nicholas R. Mahoney, Pouya Jamshidi, Charles G. Eberhart, Maria J Suarez
Publikováno v:
Am J Clin Pathol
Objectives Ocular amyloidoma is a rare disorder characterized by deposition of insoluble proteinaceous fibrils in the extracellular space of the ocular adnexa. This study details the clinicopathologic features and proteomic characteristics of periocu
Autor:
Toshiyuki Kakumoto, Meiko Hashimoto Maeda, Akatsuki Kubota, Keishi Fujio, Masanori Kono, Hayato Yuki, Toshihiko Komai, Tatsushi Toda, Norio Hanata, Hirofumi Shoda
Publikováno v:
Modern Rheumatology Case Reports. 6:64-68
Idiopathic inflammatory myopathies (IIMs) are autoimmune diseases predominantly affecting proximal muscles; paraspinal muscle involvement is relatively rare. Because paraspinal myopathies do not always cause clinically evident symptoms, the diagnosis
Publikováno v:
Clin Exp Immunol
Brain tumors and brain metastases induce changes in brain tissue remodeling that lead to immunosuppression and trigger an inflammatory response within the tumor microenvironment. These immune and inflammatory changes can influence invasion and metast
Publikováno v:
Modern Rheumatology Case Reports. 6:106-110
Relapsing polychondritis (RP) is a rare systemic disorder characterised by recurrent, widespread chondritis of the auricular, nasal, and tracheal cartilages. Immunoglobulin G4-related disease (IgG4-RD) is a systemic immune-mediated disease characteri
Publikováno v:
Radiation Protection Dosimetry. 196:167-183
The respiratory tract tissues of four former nuclear workers with plutonium intakes were radiochemically analyzed post mortem by the United States Transuranium and Uranium Registries. Plutonium activities in the upper respiratory tract of these indiv
Publikováno v:
Clinical and Experimental Dermatology. 47:216-219
Non-Langerhans cell histiocytosis is a collective term encompassing a vast group of benign proliferative disorders of histiocytes, macrophages and dendritic cells that do not meet the criteria of Langerhans cell histiocytosis. We describe a case of j