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Myhre syndrome.
Le Goff C, Michot C, Cormier-Daire V. Le Goff C, et al. Clin Genet. 2014 Jun;85(6):503-13. doi: 10.1111/cge.12365. Epub 2014 Apr 2. Clin Genet. 2014. PMID: 24580733 Review.
Cutaneous Manifestations of Mucopolysaccharidoses.
Tran MC, Lam JM. Tran MC, et al. Pediatr Dermatol. 2016 Nov;33(6):594-601. doi: 10.1111/pde.12971. Epub 2016 Sep 7. Pediatr Dermatol. 2016. PMID: 27601403 Review.
Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. Children with MPS can present with neurologic, behavioral, skeletal, cardiovascular, gastrointestinal, or respiratory abnormalities. ...
Depending on the severity and subtype of the disease, some children live normal life spans, while others have a more grim prognosis. …
Utility of Thermographic Imaging for Callus Identification in Wound and Foot Care.
Sadrzadeh-Afsharazar F, Raizman R, Saiko G. Sadrzadeh-Afsharazar F, et al. Sensors (Basel). 2023 Nov 23;23(23):9376. doi: 10.3390/s23239376. Sensors (Basel). 2023. PMID: 38067749 Free PMC article.
Our analytical calculations show that the temperature drop in the epidermis should be on the order of 0.1 C for the normal epidermis in hairy skin, 0.9 C for glabrous skin, and 1.5-2 C or higher in calluses. We have validated our predictions on gelatin phantoms and demonst …
Our analytical calculations show that the temperature drop in the epidermis should be on the order of 0.1 C for the normal epidermis in hair …
Eosinophilia-myalgia syndrome: the aftermath.
Sack KE, Criswell LA. Sack KE, et al. South Med J. 1992 Sep;85(9):878-82. doi: 10.1097/00007611-199209000-00005. South Med J. 1992. PMID: 1523446
High-frequency ultrasound of the skin in systemic sclerosis: an exploratory study to examine correlation with disease activity and to define the minimally detectable difference.
Li H, Furst DE, Jin H, Sun C, Wang X, Yang L, He J, Wang Y, Liu A. Li H, et al. Arthritis Res Ther. 2018 Aug 16;20(1):181. doi: 10.1186/s13075-018-1686-9. Arthritis Res Ther. 2018. PMID: 30115105 Free PMC article.
The area under the receiver operator characteristic (ROC) curve was 0.831 and yielded sensitivity of 77.4% and specificity of 87.1% at the predicted probability of 7.4 mm as the optimal cutoff point to access skin thickness. ...
The area under the receiver operator characteristic (ROC) curve was 0.831 and yielded sensitivity of 77.4% and specificity of 87.1% at the …
Myhre and LAPS syndromes: clinical and molecular review of 32 patients.
Michot C, Le Goff C, Mahaut C, Afenjar A, Brooks AS, Campeau PM, Destree A, Di Rocco M, Donnai D, Hennekam R, Heron D, Jacquemont S, Kannu P, Lin AE, Manouvrier-Hanu S, Mansour S, Marlin S, McGowan R, Murphy H, Raas-Rothschild A, Rio M, Simon M, Stolte-Dijkstra I, Stone JR, Sznajer Y, Tolmie J, Touraine R, van den Ende J, Van der Aa N, van Essen T, Verloes A, Munnich A, Cormier-Daire V. Michot C, et al. Eur J Hum Genet. 2014 Nov;22(11):1272-7. doi: 10.1038/ejhg.2013.288. Epub 2014 Jan 15. Eur J Hum Genet. 2014. PMID: 24424121 Free PMC article.
Myhre-LAPS syndrome is a clinically homogenous condition with life threatening complications in the course of the disease. Our identification of SMAD4 mutations in 29/32 cases confirms that SMAD4 is the major gene responsible for Myhre syndrome....
Myhre-LAPS syndrome is a clinically homogenous condition with life threatening complications in the course of the disease. Our identi …
Premature aging in vitamin D receptor mutant mice.
Keisala T, Minasyan A, Lou YR, Zou J, Kalueff AV, Pyykkö I, Tuohimaa P. Keisala T, et al. J Steroid Biochem Mol Biol. 2009 Jul;115(3-5):91-7. doi: 10.1016/j.jsbmb.2009.03.007. Epub 2009 Mar 31. J Steroid Biochem Mol Biol. 2009. PMID: 19500727
Baseline characteristics and long-term outcomes of eosinophilic fasciitis in 89 patients seen at a single center over 20 years.
Mango RL, Bugdayli K, Crowson CS, Drage LA, Wetter DA, Lehman JS, Peters MS, Davis MD, Chowdhary VR. Mango RL, et al. Int J Rheum Dis. 2020 Feb;23(2):233-239. doi: 10.1111/1756-185X.13770. Epub 2019 Dec 6. Int J Rheum Dis. 2020. PMID: 31811710
This study was undertaken to describe its clinical and laboratory features and identify prognostic factors associated with outcome. METHODS: We conducted a retrospective review of all EF patients evaluated at our institution from 1 January1997 to 30 December 2016. ...
This study was undertaken to describe its clinical and laboratory features and identify prognostic factors associated with outcome. M …
Lessons learned from an unusual case of severe hypoglycemia.
Improta MR, Strollo F, Gentile S; AMD-OSDI Study Group on Injection Technique. Improta MR, et al. Diabetes Metab Syndr. 2019 Mar-Apr;13(2):1237-1239. doi: 10.1016/j.dsx.2019.01.033. Epub 2019 Jan 31. Diabetes Metab Syndr. 2019. PMID: 31336470
19 results