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    Cardiac phenotype in familial partial lipodystrophy
    (Wiley, 2021) Eldin, Abdelwahab Jalal; Akinci, Baris; da Rocha, Andre Monteiro; Meral, Rasimcan; Simsir, Ilgin Yildirim; Adiyaman, Suleyman Cem; Ozdemir Kutbay, Nilufer
    Objectives LMNA variants have been previously associated with cardiac abnormalities independent of lipodystrophy. We aimed to assess cardiac impact of familial partial lipodystrophy (FPLD) to understand the role of laminopathy in cardiac manifestations. Study design Retrospective cohort study. Methods Clinical data from 122 patients (age range: 13-77, 101 females) with FPLD were analysed. Mature human induced pluripotent stem cell-derived cardiomyocytes (hiPSC-CMs) from a patient with an LMNA variant were studied as proof-of-concept for future studies. Results Subjects with LMNA variants had a higher prevalence of overall cardiac events than others. The likelihood of having an arrhythmia was significantly higher in patients with LMNA variants (OR: 3.77, 95% CI: 1.45-9.83). These patients were at higher risk for atrial fibrillation or flutter (OR: 5.78, 95% CI: 1.04-32.16). The time to the first arrhythmia was significantly shorter in the LMNA group, with a higher HR of 3.52 (95% CI: 1.34-9.27). Non-codon 482 LMNA variants were more likely to be associated with cardiac events (vs. 482 LMNA: OR: 4.74, 95% CI: 1.41-15.98 for arrhythmia; OR: 17.67, 95% CI: 2.45-127.68 for atrial fibrillation or flutter; OR: 5.71, 95% CI: 1.37-23.76 for conduction disease). LMNA mutant hiPSC-CMs showed a higher frequency of spontaneous activity and shorter action potential duration. Functional syncytia of hiPSC-CMs displayed several rhythm alterations such as early afterdepolarizations, spontaneous quiescence and spontaneous tachyarrhythmia, and significantly slower recovery in chronotropic changes induced by isoproterenol exposure. Conclusions Our results highlight the need for vigilant cardiac monitoring in FPLD, especially in patients with LMNA variants who have an increased risk of developing cardiac arrhythmias. in addition, hiPSC-CMs can be studied to understand the basic mechanisms for the arrhythmias in patients with lipodystrophy to understand the impact of specific mutations.
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    Magnetic resonance spectroscopy to assess hepatic steatosis in patients with lipodystrophy
    (Aves, 2020) Altay, Canan; Secil, Mustafa; Adiyaman, Suleyman Cem; Saydam, Basak Ozgen; Demir, Tevfik; Akinci, Gulcin; Akinci, Baris
    Background/Aims: Lipodystrophy is a rare metabolic disorder characterized by a near-total or partial lack of subcutaneous adipose tissue and is associated with insulin resistance. We aimed to evaluate the efficacy of magnetic resonance spectroscopy (MRS) imaging to explore the fat content of the liver in patients with lipodystrophy and to determine the relationship between liver fat accumulation and clinical presentations of lipodystrophy. Materials and Methods: Between July 2014 and February 2016, 34 patients with lipodystrophy were assessed by MRS for the quantification of hepatic steatosis. All patients had metabolic abnormalities associated with insulin resistance. Metabolic parameters and the MRS findings were analyzed to identify potential correlations between liver fat content and disease severity. Results: the MRS fat ratios (MRS-FRs) were markedly higher, indicating severe hepatic steatosis in lipodystrophy. Patients with generalized and partial lipodystrophy had comparable levels of MRS-FRs, although patients with generalized lipodystrophy were significantly younger. Patients with genetic lipodystrophy had elevated MRS-FRs compared with those with acquired lipodystrophy (p=0.042). the MRS-FR was positively correlated with liver enzyme alanine aminotransferase (p=0.028) and serum adiponectin (p=0.043). Conclusion: Our data suggest that MRS might be an effective, non-invasive imaging method to quantify hepatic fat content in patients with lipodystrophy. Further studies are needed to validate the technique and threshold values, which would allow accurate comparison of data acquired by different machines and centers.
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    Pelvis Magnetic Resonance Imaging to Diagnose Familial Partial Lipodystrophy
    (Endocrine Soc, 2023) Adiyaman, Suleyman Cem; Altay, Canan; Kamisli, Berfu Y.; Avci, Emre Ruhat; Basara, Isil; Simsir, Ilgin Yildirim; Atik, Tahir
    Context The diagnosis of familial partial lipodystrophy (FPLD) is currently made based on clinical judgment. Objective There is a need for objective diagnostic tools that can diagnose FPLD accurately. Methods We have developed a new method that uses measurements from pelvic magnetic resonance imaging (MRI) at the pubis level. We evaluated measurements from a lipodystrophy cohort (n = 59; median age [25th-75th percentiles]: 32 [24-44]; 48 females and 11 males) and age- and sex-matched controls (n = 29). Another dataset included MRIs from 289 consecutive patients. Results Receiver operating characteristic curve analysis revealed a potential cut-point of <= 13 mm gluteal fat thickness for the diagnosis of FPLD. A combination of gluteal fat thickness <= 13 mm and pubic/gluteal fat ratio >= 2.5 (based on a receiver operating characteristic curve) provided 96.67% (95% CI, 82.78-99.92) sensitivity and 91.38% (95% CI, 81.02-97.14) specificity in the overall cohort and 100.00% (95% CI, 87.23-100.00) sensitivity and 90.00% (95% CI, 76.34-97.21) specificity in females for the diagnosis of FPLD. When this approach was tested in a larger dataset of random patients, FPLD was differentiated from subjects without lipodystrophy with 96.67% (95% CI, 82.78-99.92) sensitivity and 100.00% (95% CI, 98.73-100.00) specificity. When only women were analyzed, the sensitivity and the specificity was 100.00% (95% CI, 87.23-100.00 and 97.95-100.00, respectively). The performance of gluteal fat thickness and pubic/gluteal fat thickness ratio was comparable to readouts performed by radiologists with expertise in lipodystrophy. Conclusion The combined use of gluteal fat thickness and pubic/gluteal fat ratio from pelvic MRI is a promising method to diagnose FPLD that can reliably identify FPLD in women. Our findings need to be tested in larger populations and prospectively.