Browsing by Author "Akinci, B"

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    AN UNUSUAL CASE OF ACQUIRED PARTIAL LIPODYSTROPHY PRESENTING WITH ACANTHOSIS NIGRICANS
    Kutbay, NO; Yurekli, BS; Yasar, Z; Akinci, B
    About 250 patients with acquired partial lipodystrophy (Barraquer-Simons) syndrome have been reported so far. It is characterized by the loss of adipose tissue from the face and upper extremities, and accumulated fat in the rest of the body. The disease usually starts in females during childhood or adolescence, and usually after a febrile illness. Fat loss often comes into view in months or years. We present a 23-year-old female patient with acquired partial lipodystrophy, which is rarely seen.
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    Evaluation of markers of inflammation, insulin resistance and endothelial dysfunction in children at risk for overweight
    Akinci, G; Akinci, B; Coskun, S; Bayindir, P; Hekimsoy, Z; Özmen, B
    OBJECTIVE: Childhood obesity is associated with impaired endothelial function, insulin resistance and inflammation. Being at risk for overweight has been defined as having a body mass index (BMI) between the 85(th) and 94(th) percentile for age and sex. In this study, we looked for features linked to cardiovascular, risk in children who are at risk for overweight. DESIGN: Twenty-one children who were at risk for overweight (study group) and 20 children with a BMI between the 25(th)-74(th) percentiles (controls) were studied. Fasting blood levels of glucose, insulin, total cholesterol, HDL cholesterol, triglycerides, uric acid, fibrinogen and high sensitive C-reactive protein (CRP) were assessed in both groups. LDL-cholesterol, HOMA-IR and QUICKI indices were calculated. Flow-Mediated Vasodilatation (FMD) was determined for the evaluation of endothelial function. RESULTS: Increased HOMA-IR was observed in children who were at risk for overweight. Waist circumference was the main predictor of insulin resistance in these children. Higher levels of CRP were found in the study group compared to controls, while plasma fibrinogen died not differ in the two groups. The children who were at risk for overweight had lower FMD values and slightly elevated lipids compared to controls; however, these differences were not statistically significant. CONCLUSION: Insulin resistance and inflammation indices were higher in children who were at risk for overweight as has been shown for obese children. The data suggest that appropriate treatment strategies for weight control are essential not only for obese children but also for those at risk for overweight.
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    A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA)mutation in exon 1 (D47N)
    Kutbay, NO; Yurekli, BS; Onay, H; Altay, CT; Atik, T; Hekimsoy, Z; Saygili, F; Akinci, B
    Background: Familial partial lipodystrophy (FPL) is a rare genetic disorder characterized by selective lack of subcutaneous fat which is associated with insulin resistant diabetes. The Dunnigan variety (FPL2) is caused by several missense mutations in the lamin A/C (LMNA) gene, most of which are typically located in exon 8 at the codon position 482. Case report: Here, we report on a Turkish family with FPL2 which is caused by a novel heterozygous missense LMNA mutation in exon 1 (D47N, c. 139G N A), in the rod domain of lamins A/C. Fat distribution and metabolic features of LMNA D47N mutation were similar to typical codon 482 mutation. Metabolic abnormalities were observed as a form of insulin resistant diabetes, hypertriglyceridemia, low HDL cholesterol and hepatic steatosis. There was no evidence for neuromuscular and cardiac involvement. Conclusion: Although it is previously known that alterations in the rod domain of type A lamins are involved in cardiac and neuromuscular diseases, our current observation shows that exon 1 LMNA mutationsmay be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. (C) 2015 European Federation of Internal Medicine. Published by Elsevier B. V. All rights reserved.
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    Serum sickness-like reactions associated with type III insulin allergy responding to plasmapheresis
    Bayraktar, F; Akinci, B; Demirkan, F; Yener, S; Yesil, S; Kirmaz, C; Comlekci, A
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    Atherosclerosis risk factors in children of parents with the metabolic syndrome
    Akinci, G; Coskun, S; Akinci, B; Hekimsoy, Z; Bayindir, P; Onur, E; Ozmen, B
    Background: Metabolic syndrome is a constellation of disorders that produces a high risk of atherosclerosis. Endothelial dysfunction is the key event in atherosclerosis and already present even in the childhood. The aim of the present study is to investigate inflammatory and radiological signs of atherosclerosis in children who have parents with the metabolic syndrome. Design and methods: Fifty children of parents with the metabolic syndrome and 38 age- and sex-matched controls were studied. Anthropometric measurements, blood pressure assessment, echocardiography, flow-mediated vasodilatation (FMD) which is a non-invasive test for the evaluation of endothelial function and fasting blood measurements including blood glucose, insulin, total cholesterol, HDL cholesterol, triglyceride, hsCRP and soluble CD40 ligand were performed. Results: Serum sCD40L and hsCRP levels were significantly higher in the study group compared to the controls. FMD values did not differ between the study and control groups. Increased serum sCD40L levels were positively correlated with body mass index, waist hip ratio, LDL/HDL cholesterol ratio, and the number of metabolic syndrome components in parents, whereas showed negative correlation with the serum HDL cholesterol levels. High hsCRP levels were positively correlated with body mass index and the number of metabolic syndrome components. Multiple regression analysis demonstrated that the number of metabolic syndrome components in parents presented as being a significant predictor of the serum sCD40L and hsCRP levels of their children. Conclusion: Our results suggest that children of patients with metabolic syndrome have higher values of the serum markers of inflammation, which may be associated with increased risk for development of cardiovascular disease. (C) 2007 Elsevier Ireland Ltd. All rights reserved.
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    Cardiac phenotype in familial partial lipodystrophy
    Eldin, AJ; Akinci, B; da Rocha, AM; Meral, R; Simsir, IY; Adiyaman, SC; Ozpelit, E; Bhave, N; Gen, R; Yurekli, B; Kutbay, NO; Siklar, Z; Neidert, AH; Hench, R; Tayeh, MK; Innis, JW; Jalife, J; Oral, H; Oral, EA
    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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    A subset of patients with acquired partial lipodystrophy developing severe metabolic abnormalities
    Saydam, BO; Sonmez, M; Simsir, IY; Erturk, MS; Kulaksizoglu, M; Arkan, T; Hekimsoy, Z; Cavdar, U; Akinci, G; Demir, T; Altay, CT; Mihci, E; Secil, M; Akinci, B
    Purpose/Aim of the study: Acquired partial lipodystrophy (APL) is a rare disease characterized by selective loss of adipose tissue. In this study, we aimed to present a subset of patients with APL, who developed severe metabolic abnormalities, from our national lipodystrophy registry. Materials and Methods: Severe metabolic abnormalities were defined as: poorly controlled diabetes (HbA1c above 7% despite treatment with insulin more than 1 unit/kg/day combined with oral antidiabetics), severe hypertriglyceridemia (triglycerides above 500 mg/dL despite treatment with lipid-lowering drugs), episodes of acute pancreatitis, or severe hepatic involvement (biopsy-proven non-alcoholic steatohepatitis (NASH)). Results: Among 140 patients with all forms of lipodystrophy (28 with APL), we identified 6 APL patients with severe metabolic abnormalities. The geometric mean for age was 37 years (range: 27-50 years; 4 females and 2 males). Five patients had poorly controlled diabetes despite treatment with high-dose insulin combined with oral antidiabetics. Severe hypertriglyceridemia developed in five patients, of those three experienced episodes of acute pancreatitis. Although all six patients had hepatic steatosis at various levels on imaging studies, NASH was proven in two patients on liver biopsy. Our data suggested that APL patients with severe metabolic abnormalities had a more advanced fat loss and longer disease duration. Conclusions: We suggest that these patients represent a potential subgroup of APL who may benefit from metreleptin or investigational therapies as standard treatment strategies fail to achieve a good metabolic control.
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    Central nervous system thrombosis in pediatric acute lymphoblastic leukemia in Turkey: A multicenter study
    Guzelkucuk, Z; Karapinar, DY; Gelen, SA; Tokgoz, H; Ozcan, A; Ay, Y; Bahadir, A; Ozbek, NY; Oren, AC; Ayhan, AC; Akyay, A; Akinci, B; Karadas, N; Unuvar, A; Oren, H; Fettah, A; Kaya, Z; Isik, B; Eker, I; Karaman, S; Yildirim, AT; Orhan, MF; Oymak, Y; Timur, C; Yazici, N; Simsek, A; Karakurt, N; Toret, E; Evim, MS
    BackgroundIn patients with acute lymphoblastic leukemia (ALL), the risk of thromboembolism increases due to hemostatic changes secondary to the primary disease and due to treatment-related factors. In this multicenter study, we aimed to research the frequency of central nervous system (CNS) thrombosis occurring during treatment, hereditary and acquired risk factors, clinical and laboratory features of patients with thrombosis, treatment approaches, and thrombosis-related mortality and morbidity rates in pediatric ALL patients. ProcedurePediatric patients who developed CNS thrombosis during ALL treatment from 2010 to 2021 were analyzed retrospectively in 25 different Pediatric Hematology Oncology centers in Turkiye. The demographic characteristics of the patients, symptoms associated with thrombosis, the stage of the leukemia treatment during thrombosis, the anticoagulant therapy applied for thrombosis, and the final status of the patients recorded through electronic medical records were determined. ResultsData from 70 patients with CNS thrombosis during treatment, out of 3968 pediatric patients with ALL, were reviewed. The incidence of CNS thrombosis was 1.8% (venous: 1.5 %; arterial: 0.03%). Among patients with CNS thrombosis, 47 had the event in the first 2 months. Low molecular weight heparin (LMWH) was the most commonly used treatment with a median of 6 months (min-max: 3-28 months). No treatment-related complications occurred. Chronic thrombosis findings occurred in four patients (6%). In five (7%) patients who developed cerebral vein thrombosis, neurological sequelae (epilepsy and neurological deficit) remained. One patient died related to thrombosis, and the mortality rate was 1.4%. ConclusionCerebral venous thrombosis and, less frequently, cerebral arterial thrombosis may develop in patients with ALL. The incidence of CNS thrombosis is higher during induction therapy than during other courses of treatment. Therefore, patients receiving induction therapy should be monitored carefully for clinical findings suggestive of CNS thrombosis.