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Quoted phrase not found in phrase index: "Visceral myopathy 1"
Page 1
The expanding phenotypes of cohesinopathies: one ring to rule them all!
Piché J, Van Vliet PP, Pucéat M, Andelfinger G. Piché J, et al. Cell Cycle. 2019 Nov;18(21):2828-2848. doi: 10.1080/15384101.2019.1658476. Epub 2019 Sep 13. Cell Cycle. 2019. PMID: 31516082 Free PMC article. Review.
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohesinopathy context, especially in comparison to Chronic Atrial and Intestinal Dysrhythmia (CAID) syndrome, a very distinct cohesinopat …
This review focuses on non-cohesion-related functions of the cohesin complex, gene dosage effect, epigenetic regulation and TGF-beta in cohe …
Infectious diseases causing autonomic dysfunction.
Carod-Artal FJ. Carod-Artal FJ. Clin Auton Res. 2018 Feb;28(1):67-81. doi: 10.1007/s10286-017-0452-4. Epub 2017 Jul 20. Clin Auton Res. 2018. PMID: 28730326 Review.
Varicella zoster reactivation from autonomic ganglia may be involved in visceral disease and chronic intestinal pseudo-obstruction. Autonomic and peripheral nervous system dysfunction may happen in acute tick-borne encephalitis virus infections. ...Aut …
Varicella zoster reactivation from autonomic ganglia may be involved in visceral disease and chronic intestinal pseudo- …
Gastrointestinal system involvement in systemic lupus erythematosus.
Li Z, Xu D, Wang Z, Wang Y, Zhang S, Li M, Zeng X. Li Z, et al. Lupus. 2017 Oct;26(11):1127-1138. doi: 10.1177/0961203317707825. Epub 2017 May 19. Lupus. 2017. PMID: 28523968 Review.
This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein-losing enteropathy (PLE), intestinal pseudo-obstruction (IPO), hepatic involvement and pancreatitis. ...SLE-related PLE …
This study aims to clarify clinical characteristics, diagnosis and treatment of the four major SLE-related GI system complications: protein- …
Intestinal Pathology in Patients With Pathogenic ACTG2-Variant Visceral Myopathy: 16 Patients From 12 Families and Review of the Literature.
Kapur RP, Goldstein AM, Loeff DS, Myers CT, Paschal CR. Kapur RP, et al. Pediatr Dev Pathol. 2022 Nov-Dec;25(6):581-597. doi: 10.1177/10935266221107449. Epub 2022 Jun 12. Pediatr Dev Pathol. 2022. PMID: 35695198 Review.
BACKGROUND: Dominant gamma-smooth muscle actin gene (ACTG2) variants cause clinically diverse forms of visceral myopathy. Many patients undergo intestinal resection or biopsy before identification of their genetic defect. ...The remaining 3 patients harbored …
BACKGROUND: Dominant gamma-smooth muscle actin gene (ACTG2) variants cause clinically diverse forms of visceral myopathy. Many …
Intestinal Involvement in Kawasaki Disease.
Colomba C, La Placa S, Saporito L, Corsello G, Ciccia F, Medaglia A, Romanin B, Serra N, Di Carlo P, Cascio A. Colomba C, et al. J Pediatr. 2018 Nov;202:186-193. doi: 10.1016/j.jpeds.2018.06.034. Epub 2018 Jul 17. J Pediatr. 2018. PMID: 30029859 Review.
RESULTS: Thirty-three articles reporting 48 cases of Kawasaki disease with intestinal involvement were considered. Fever, abdominal pain, and vomiting were the most frequent symptoms observed and typical Kawasaki disease signs and symptoms appeared after intestin …
RESULTS: Thirty-three articles reporting 48 cases of Kawasaki disease with intestinal involvement were considered. Fever, abdominal p …
Hereditary megaduodenum.
Basilisco G. Basilisco G. Am J Gastroenterol. 1997 Jan;92(1):150-3. Am J Gastroenterol. 1997. PMID: 8995957 Review.
Hereditary megaduodenum is a rare disease with autosomal dominant transmission characterized by visceral myopathy that involves the digestive and urinary tracts, and usually presents as intestinal pseudo-obstruction. Recently, a high rate of spo …
Hereditary megaduodenum is a rare disease with autosomal dominant transmission characterized by visceral myopathy that involve …
Mitochondria and peripheral neuropathies.
Vital A, Vital C. Vital A, et al. J Neuropathol Exp Neurol. 2012 Dec;71(12):1036-46. doi: 10.1097/NEN.0b013e3182764d47. J Neuropathol Exp Neurol. 2012. PMID: 23147504
Neuropathies were first reported in diseases related to point mutations of mitochondrial DNA, but they proved to be a prominent feature of the phenotype in mitochondrial disorders caused by defects in nuclear DNA, particularly in 3 genes: polymerase gamma 1 (POLG1), mitofu …
Neuropathies were first reported in diseases related to point mutations of mitochondrial DNA, but they proved to be a prominent feature of t …
The Long Noncoding RNA Cardiac Mesoderm Enhancer-Associated Noncoding RNA (Carmn) Is a Critical Regulator of Gastrointestinal Smooth Muscle Contractile Function and Motility.
He X, Dong K, Shen J, Hu G, Mintz JD, Atawia RT, Zhao J, Chen X, Caldwell RW, Xiang M, Stepp DW, Fulton DJ, Zhou J. He X, et al. Gastroenterology. 2023 Jul;165(1):71-87. doi: 10.1053/j.gastro.2023.03.229. Epub 2023 Apr 6. Gastroenterology. 2023. PMID: 37030336
RESULTS: Unbiased in silico analyses and GFP expression patterns in Carmn GFP KI mice revealed that Carmn is highly expressed in GI SMCs in humans and mice. Premature lethality was observed in global Carmn KO and inducible SMC-specific KO mice due to GI pseudo-ob …
RESULTS: Unbiased in silico analyses and GFP expression patterns in Carmn GFP KI mice revealed that Carmn is highly expressed in GI SMCs in …
Evaluation of risk factors for pseudo-obstruction in systemic sclerosis.
Dein E, Kuo PL, Hong YS, Hummers LK, Mecoli CA, McMahan ZH. Dein E, et al. Semin Arthritis Rheum. 2019 Dec;49(3):405-410. doi: 10.1016/j.semarthrit.2019.05.005. Epub 2019 May 23. Semin Arthritis Rheum. 2019. PMID: 31202479 Free PMC article.
RESULTS: 175 patients with SSc had a history of pseudo-obstruction, and 2,637 SSc patients did not. After adjusting for significant variables from the univariate analysis and potential confounders, the Cox proportional hazards multivariable analysis demonstrated tha …
RESULTS: 175 patients with SSc had a history of pseudo-obstruction, and 2,637 SSc patients did not. After adjusting for signif …
Long-term follow-up for pediatric intestinal pseudo-obstruction patients in China.
Tang P, Lu L, Yan W, Tao Y, Feng H, Cai W, Wang Y. Tang P, et al. Nutr Clin Pract. 2023 Jun;38(3):648-656. doi: 10.1002/ncp.10929. Epub 2022 Oct 29. Nutr Clin Pract. 2023. PMID: 36309477
BACKGROUND: Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous and severe group of disorders with a high mortality rate. ...Twenty-one patients died, of which 18 (85.7%) patients had EO-PIPO and 14 (66.7%) patients died under 1 year of a …
BACKGROUND: Pediatric intestinal pseudo-obstruction (PIPO) is a heterogeneous and severe group of disorders with a high …
156 results