Wos Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10754
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Item A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings(2019) Eskiocak, Ali Haydar; Missaglia, Sara; Moro, Laura; Durdu, Murat; Tavian, Daniela; 31883530Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.Item Do Statins Affect Thyroid Volume and Nodule Size in Patients with Hyperlipidemia in a Region with Mild-to-Moderate Iodine Deficiency? A Prospective Study(2018) Bozkus, Yusuf; Demir, Canan; Anil, Cuneyd; Mousa, Umut; Kut, Altug; Nar, Asli; Tutuncu, Neslihan B.; 0000-0002-6976-6659; 0000-0003-0998-8388; 0000-0002-8078-9376; 0000-0002-1816-3903; 0000-0003-3802-9733; 0000-0003-0776-8349; 29402848; AAA-5419-2021; AAA-2743-2021; I-1735-2018; AAK-4857-2021; ABG-5027-2020; A-2550-2015Objective: The objective of this study was to assess the anti-proliferative pleiotropic effects of statins on thyroid function, volume, and nodularity. Subjects and Methods: One hundred and six hyperlipidemic patients were included in this prospective study. The 69 patients in the statin groups received atorvastatin (16 received 10 mg and 18 received 20 mg) or rosuvastatin (20 received 10 mg and 15 received 20 mg). The 37 patients in the control group, assessed as not requiring drugs, made only lifestyle changes. Upon admission and after 6 months, all patients were evaluated by ultrasonography as well as for lipid variables (total cholesterol, high-and low-density lipoprotein cholesterol, and triglycerides) and thyroid function and structure. Results: After 6 months, no differences in thyroid function, thyroid volume, the number of thyroid nodules, or nodule size were observed in the statin and control groups. In a subgroup analysis, total thyroid volume had decreased more in patients receiving 20 mg of rosuvastatin than that in the control group (p < 0.05). Maximum nodule size had decreased more in those receiving 10 mg of rosuvastatin (p < 0.05). Conclusions: Our results suggest an association between rosuvastatin treatment and smaller thyroid volume and maximum nodule diameter; this could be attributable to the antiproliferative effects of statin therapy on the thyroid. (C) 2018 The Author(s) Published by S. Karger AG, Basel