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Total 475 results found since Jan 2013.

Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice.
Abstract X-linked myotubular myopathy is a congenital myopathy caused by deficiency of myotubularin. Patients often present with severe perinatal weakness, requiring mechanical ventilation to prevent death from respiratory failure. We recently reported that an activin receptor type IIB inhibitor produced hypertrophy of type 2b myofibers and modest increases of strength and life span in the severely myopathic Mtm1δ4 mouse model of X-linked myotubular myopathy. We have now performed a similar study in the less severely symptomatic Mtm1 p.R69C mouse in hopes of finding greater treatment efficacy. Activin receptor ty...
Source: The American Journal of Pathology - April 10, 2014 Category: Pathology Authors: Lawlor MW, Viola MG, Meng H, Edelstein RV, Liu F, Yan K, Luna EJ, Lerch-Gaggl A, Hoffmann RG, Pierson CR, Buj-Bello A, Lachey JL, Pearsall S, Yang L, Hillard CJ, Beggs AH Tags: Am J Pathol Source Type: research

Conditional Knockout of Pik3c3 Causes a Murine Muscular Dystrophy.
Abstract Abnormalities in phosphoinositide metabolism are an emerging theme in human neurodegenerative disease. Myotubular myopathy is a prototypical disorder of phosphoinositide dysregulation that is characterized by profound muscle pathology and weakness and that is caused by mutations in MTM1, which encodes a phosphatase that targets 3-position phosphoinositides, including phosphatidylinositol 3-phosphate. Although the association between MTM1 and muscle disease has become increasingly clarified, the normal role(s) of phosphatidylinositol 3-phosphate metabolism in muscle development and homeostasis remain poorl...
Source: The American Journal of Pathology - April 8, 2014 Category: Pathology Authors: Reifler A, Li X, Archambeau AJ, McDade J, Sabha N, Michele DE, Dowling JJ Tags: Am J Pathol Source Type: research

A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
Abstract Collagen VI-related myopathy is a group of disorders affecting skeletal muscles and connective tissue. The most common symptoms are muscle weakness and joint deformities which limit the movement and progress over time. Several forms of collagen VI-related myopathies have been described: Bethlem myopathy, an intermediate form and Ullrich congenital muscular dystrophy, which is the most severe. Here we report a novel de novo c.1056+3A>C substitution in intron 14 of the COL6A1 gene encoding alpha-chains of collagen VI in a 13-year-old girl suffering from collagen VI (ColVI) myopathy. Analysis performed on...
Source: Folia Neuropathologica - October 8, 2017 Category: Pathology Authors: Koppolu AA, Madej-Pilarczyk A, Rydzanicz M, Kosińska J, Gasperowicz P, Dorszewska J, Kozubski W, Steinborn B, Kochański AM, Płoski R Tags: Folia Neuropathol Source Type: research

The coexistence of dynamin 2 mutation and multiple mitochondrial DNA (mtDNA) deletions in the background of severe cardiomyopathy and centronuclear myopathy.
Abstract Dynamin2 (DNM2) gene mutations may result in Charcot-Marie-Tooth disease and centronuclear myopathy. Here, we present a patient suffering from cardiomyopathy and centronuclear myopathy with repetitive discharges and mild axonal neuropathy due to DNM2 mutation. Detailed cardiological and neurological examinations, electrophysiological tests, muscle biopsy, and molecular genetic analysis were performed. The patient developed left bundle branch block at age 40 and was fitted with a pacemaker at the age of 43. The patient has severe heart failure, ptosis, strabism, facial and proximal muscle weakness. Electro...
Source: Clinical Neuropathology - December 5, 2014 Category: Pathology Authors: Gal A, Inczedy-Farkas G, Pal E, Remenyi V, Bereznai B, Geller L, Szelid Z, Merkely B, Molnar MJ Tags: Clin Neuropathol Source Type: research

Severe congenital nemaline myopathy with primary pulmonary lymphangiectasia: unusual clinical presentation and review of the literature
Conclusion: To the best of our knowledge, congenital nemaline myopathy with primary pulmonary lymphangiectasia causing bilateral chylothrax has never been previously reported. Considering chylothorax as a poor prognostic index and an unusual clinical presentation of severe congenital NM are proposed.Virtual SlidesThe virtual slide(s) for this article can be found here: http://www.diagnosticpathology.diagnomx.eu/vs/9710506431489501.
Source: Diagnostic Pathology - April 16, 2015 Category: Pathology Authors: Jariya WaisayaratChinnawut SuriyonplengsaengChaiyos KhongkhatithumMana Rochanawutanon Source Type: research

Myofibrillar Myopathy Presenting as Neonatal Intestinal Pseudo-Obstruction: An Extremely Rare Entity.
CONCLUSION: Pure phenotypic neonatal IP presentation in a myofibrillar myopathy is extremely rare and not reported in the literature. Along with other common causes of neonatal IP, neuromuscular causes should also be investigated. PMID: 26828629 [PubMed - as supplied by publisher]
Source: Fetal and Pediatric Pathology - February 2, 2016 Category: Pathology Tags: Fetal Pediatr Pathol Source Type: research

Clinical phenotype of familial amyotrophic lateral sclerosis with < em > SOD1 < /em > gene mutation mimicking proximal myopathy: A case report and literature review
This report expands the knowledge of the clinical phenotype of FALS. For patients with clinical manifestations mimicking proximal myopathy, the possibility of underlying ALS should be considered.PMID:35652543 | DOI:10.5414/NP301459
Source: Clinical Neuropathology - June 2, 2022 Category: Pathology Authors: Jin Mei Sun Cheng Jie Zhang Lin Wang Hong Yan Bi Source Type: research

Selected Case From the Arkadi M. Rywlin International Pathology Slide Series: Mitochondrial Myopathy Presenting With Chronic Progressive External Ophthalmoplegia (CPEO): A Case Report
In conclusion, mitochondrial myopathy was definitely diagnosed. Although molecular analysis, which was subsequently carried out, failed to reveal mutations in the mitochondrial DNA or in selected nuclear genes, the pathologic diagnosis was not changed. The differential diagnosis of CPEO with other forms of ocular myopathies as well as the possible association of CPEO with systemic syndromes is discussed. Ophtalmologists and medical internists should always suspect CPEO when dealing with patients affected by ocular myopathy, either in its pure form or in association with other myopathic or systemic signs.
Source: Advances in Anatomic Pathology - October 10, 2014 Category: Pathology Tags: AMR Series Source Type: research

Onset of white striping and progression into wooden breast as defined by myopathic changes underlying Pectoralis major growth. Estimation of growth parameters as predictors for stage of myopathy progression.
This study describes the macroscopic changes associated with WB ontogeny in the development of a ranking system and the contribution of growth parameters in the determination of rank (WB severity). Results suggest that physical measurements, inherent to selection for high yielding broiler genotypes are contributing to the occurrence and severity of WS and WB. PMID: 28714747 [PubMed - as supplied by publisher]
Source: Avian Pathology - July 17, 2017 Category: Pathology Authors: Griffin JR, Moraes L, Wick M, Lilburn MS Tags: Avian Pathol Source Type: research

BAG3P215L/KO mice as a model of BAG3P209L myofibrillar myopathy.
Abstract BCL-2-Associated Athanogene-3 (BAG3) is a co-chaperone to heat-shock proteins important in degrading misfolded proteins through chaperone-assisted selective autophagy. The recurrent dominant BAG3-P209L mutation results in a severe childhood-onset myofibrillar myopathy (MFM) associated with progressive muscle weakness, cardiomyopathy, and respiratory failure. Since a homozygous knock-in (KI) strain for the mP215L mutation homologous to the human P209L mutation did not have a gross phenotype, compound heterozygote knock-out (KO) and KI mP215L mice were generated to establish if further reduction in BAG3 exp...
Source: The American Journal of Pathology - January 13, 2020 Category: Pathology Authors: Robertson R, Conte TC, Dicaire MJ, Rymar VV, Sadikot AF, Bryson-Richardson RJ, Lavoie JN, O'Ferrall E, Young JC, Brais B Tags: Am J Pathol Source Type: research

Hypothyroidism combined with anti-signal recognition particle immune-mediated necrotizing myopathy: A case report and review of the literature
Clin Neuropathol. 2022 Jan 17. doi: 10.5414/NP301434. Online ahead of print.ABSTRACTImmune-mediated necrotizing myopathy (IMNM) is characterized by proximal limb weakness, elevated creatine kinase (CK) levels, and myofiber necrosis without or with only a small amount of inflammatory cell infiltrate. There is only 1 report of hypothyroidism combined with antibody-negative IMNM to date. We aimed to describe a rare case of hypothyroidism combined with anti-signal recognition particle (SRP) IMNM for the first time and review the previous literature. A 50-year-old male, who had a 4-year history of hypothyroidism treated with le...
Source: Clinical Neuropathology - January 17, 2022 Category: Pathology Authors: Jiaying Shi Huaxing Meng Wei Zhang Junhong Guo Source Type: research