Browsing by Author "Yurekli B.S."

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    A case of familial partial lipodystrophy caused by a novel lamin A/C (LMNA) mutation in exon 1 (D47N)
    (Elsevier B.V., 2016) Kutbay N.O.; Yurekli B.S.; Onay H.; Altay C.T.; 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 > 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 mutations may be associated with partial lipodystrophy without any cardiac and neurological abnormalities, at least at the time of the presentation. © 2015 European Federation of Internal Medicine.
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    AT-101 acts as anti-proliferative and hormone suppressive agent in mouse pituitary corticotroph tumor cells
    (Springer International Publishing, 2018) Yurekli B.S.; Karaca B.; Kisim A.; Bozkurt E.; Atmaca H.; Cetinkalp S.; Ozgen G.; Yilmaz C.; Uzunoglu S.; Uslu R.; Saygili F.
    Purpose: Gossypol, a naturally occurring compound in cottonseeds, has anticancer effects against several tumor cell lines. It has been extensively studied in clinical trials and is well tolerated with a favorable safety profile. AT-101, a derivative of R (−)-gossypol, binds to Bcl-2 family proteins and induces apoptosis in vitro. Although transsphenoidal surgical excision of the pituitary corticotroph adenoma is the gold standard of care, it is not successful all the time. Medical therapy for Cushing’s disease still remains a challenge for the clinicians. We aimed to investigate the cytotoxic and apoptotic effects of AT-101 in mouse pituitary corticotroph tumor AtT20 cells. Methods: Cytotoxic effect of AT-101 was assessed by XTT cell viability assay. Apoptosis was shown by measuring DNA fragmentation and Caspase-3/7 activity. Changes in mRNA expressions of apoptosis-related genes were investigated by qPCR array after treatment with AT-101. ACTH was measured by ACTH-EIA Kit. Results: AT-101 induced cytotoxicity and apoptosis in AtT20 cells. mRNA levels of pro-apoptotic genes such as TNFR-SF-10B, Bid, PYCARD, Caspase-8, Caspase-3, and Caspase-7 were induced by 2.0-, 1.5-, 1.7-, 1.5-, 1.6-, and 2-fold, respectively, in AtT20 cells by AT-101 treatment. Moreover, some of the anti-apoptotic genes such as BCL2L10, NAIP1, and PAK-7 were reduced by 2.1-, 2.3-, 4.0-fold, respectively, in AtT20 cells. AT-101 also decreased ACTH secretion significantly. Conclusion: AT-101 induces apoptosis in mouse pituitary corticotroph tumor cells. © 2017, Italian Society of Endocrinology (SIE).
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    An unusual case of acquired partial lipodystrophy presenting with acanthosis nigricans
    (Acta Endocrinologica Foundation, 2019) Kutbay N.I.; Yurekli B.S.; 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. © 2019, Acta Endocrinologica Foundation. All rights reserved.
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    A distinct clinical phenotype in two siblings with X-linked adrenoleukodystrophy
    (Maghira and Maas Publications, 2019) Kutbay N.O.; Ozbek M.N.; Yurekli B.S.; Demirbilek H.
    OBJECTIVES: X-linked adrenoleukodystrophy(X-ALD) is a rare X-linked recessive metabolic disorder. The mutations in the ATP Binding Cassette Subfamily D Member 1 (ABCD1) gene account for the underlying molecular mechanism. Herein, we present two siblings with X-ALD due to a missense, presumably identical, ABCD1 mutation, who had extremely distinct clinical phenotypes. MATERIAL AND METHODS: Patient 1 (6y/o) was admitted with primary adrenal insufficiency (PAI). His VLCFA analysis and cranial MRI suggested the diagnosis of X-ALD with no cranial involvement. Although the PAI was successfully managed using hydrocortisone replacement therapy, during follow-up he was admitted with the complaints of perception impairment, seizures, loss of vision and deafness suggesting cranial involvement which was not able to be recovered despite intensive supportive therapies; in the end patient died. Patient 2 (21y/o) had mild symptoms of PAI with no organ manifestation. He was undertaken to a molecular genetics analysis for ABCD1 gene due to history of his brother. His VLCFA analysis revealed mildly elevated C26, C22 and C26/C22 ratio suggesting ALD diagnosis. However, his cranial imaging and other results were within normal limits. CONCLUSION: Two siblings with X-ALD due to presumably an identical, missense ABCD1 mutation and distinct clinical phenotype have confirmed the lack of phenotype-genotype correlation and proved the essential role of molecular genetics analysis in the early diagnosis. It is crucial to follow up for the development of cranial involvement and decide a bone marrow transplantation which is the only option that can prevent the progression of the disease, thus extend the lifespan. ©2019 Neuroendocrinology Letters.
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    Plasma levels of antioxidant vitamins in patients with acromegaly: A case-control study
    (Maghira and Maas Publications, 2019) Kutbay N.O.; Yurekli B.S.; Simsir I.Y.; Suner A.; Seckiner S.; Kucukerdonmez O.; Saygili F.
    OBJECTIVE: The aim of this study was to compare antioxidant Vitamin C and Vitamin E levels in the non-acromegaly control group and in patients with acromegaly with and without remission. MATERIAL AND METHODS: In this study, 100 cases, acromegaly patients of 57% (n=57, 29F, 28M, mean ages of 49.5±12.1) and control subjects of 43% (n=43, 29F, 14M, mean ages of 49.6±9.2). Acromegaly patients were classified into two groups; active acromegaly (AA; n=33) and controlled acromegaly (CA; n=24). RESULTS: Vitamin C levels were significantly lower in the acromegaly group [7.6 (4.7) mg/L, as median (IQR)] when compared to the control group [12.2 (5.5) mg/L, as median (IQR)] (p <0.001). Vitamin E levels didn't show a significant difference between the acromegaly and the control groups (14.2±3.6 vs. 14.8±3.7, as mean±SD, respectively, p = 0.439). Correlation analysis showed that Vitamin C levels were not significantly associated with clinical, anthropometric and laboratory parameters in the acromegaly group. Vitamin E levels were significantly associated with the total cholesterol, triglyceride, LDL-C, HDL-C, APO Al, APO B both in the acromegaly and the control groups. CONCLUSION: This study is the first one to investigate the relationship between the levels of Vitamin C & E and anthropometric & metabolic parameters in acromegaly patients and control group. In our study, Vitamin C level was significantly lower in the acromegaly group compared to the level in the control group. There was no significant difference in Vitamin E levels between the acromegaly and control group. © 2019 Maghira and Maas Publications. All rights reserved.
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    Two challenging cases of pituicytoma
    (Springer Science and Business Media Deutschland GmbH, 2021) Ozisik H.; Yurekli B.S.; Simsir I.Y.; Ertan Y.; Eraslan C.; Ozdemir N.; Ozgiray E.; Saygili F.
    Introduction: Pituicytoma is a rare tumor of the pituitary gland derived from neurohypophyseal pituicytes. Case 1: A 58-year-old female presented with decreased vision; she was admitted to the neurosurgery department of Ege University after the detection of a pituitary macroadenoma. Magnetic resonance imaging (MRI) showed a 28 * 18 * 17-mm suprasellar mass, and laboratory tests revealed hypopituitarism. Hydrocortisone and L-thyroxine treatment were initiated, and the patient underwent resection through the endoscopic endonasal approach (EEA). The histopathological examination revealed a pituicytoma. The recurrence of tumor was detected during the 1-year follow-up, and the patient is awaiting surgery. Case 2: A 70-year-old woman presented with visual changes; she had a past medical history of hypophyseal macroadenoma and pituicytoma resected through an EEA in 2012 and 2017, respectively. During follow-up, 2 years after the second surgery, MRI showed progression of the pituicytoma then measuring 38 × 23 × 22 mm; it had invaded the cavernous sinus and was causing hydrocephaly and panhypopituitarism. The patient underwent the third resection through the transcranial approach in order to minimize bleeding. After this surgery, the patient developed diabetes insipidus and underwent treatment with desmopressin. Histopathological examination revealed a pituicytoma. At 6-month follow-up, imaging showed a sellar suprasellar mass 37 × 22 × 24 mm invading the cavernous sinus, indicative of recurrence. In the postoperative period, the patient applied to the department of radiation oncology to have fractionated radiotherapy. Discussion: Pituicytomas are known to be low-grade tumors; because of their rarity, they are a real challenge. These patients should be followed up closely. © 2021, Hellenic Endocrine Society.
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    The Importance of DHEA-S Levels in Cushing's Syndrome; Is There a Cut-off Value in the Differential Diagnosis?
    (Georg Thieme Verlag, 2022) Ciftci S.; Soyluk O.; Selek A.; Erol S.; Hekimsoy Z.; Esen A.; Dursun H.; Sahin S.; Oruk G.; Mert M.; Soylu H.; Yurekli B.S.; Ertorer M.E.; Omma T.; Evran M.; Adas M.; Tanrikulu S.; Aydin K.; Pekkolay Z.; Can B.; Karakilic E.; Karaca Z.; Bilen H.; Canturk Z.; Cetinarslan B.; Kadioglu P.; Yarman S.
    The purpose of this study was to determine possible cut-off levels of basal DHEA-S percentile rank in the differential diagnosis of patients with Cushing's syndrome (CS) with ACTH levels in the gray zone and normal DHEA-S levels.In this retrospective study including 623 pathologically confirmed CS, the DHEA-S percentile rank was calculated in 389 patients with DHEA-S levels within reference interval. The patients were classified as group 1 (n=265 Cushing's disease; CD), group 2 (n=104 adrenal CS) and group 3 (n=20 ectopic ACTH syndrome).ROC-curve analyses were used to calculate the optimal cut-off level of DHEA-S percentile rank in the reference interval in the differential diagnosis of CS, and the effectiveness of this cut-off level in the identification of the accurate etiology of CS was assessed in patients who were in gray zone according to their ACTH levels.The DHEA-S percentile rank in the reference interval were significantly lower in group 2 compared to the other two groups (p<0.001), while group 1 and group 3 had similar levels. The optimal cut-off level of DHEA-S percentile rank in the reference interval providing differential diagnosis between group 1 and group 2 was calculated as 19.5th percentile (80.8% sensitivity, 81.5% specificity) and the level demonstrated the accurate etiology in 100% of CD and 76% of adrenal CS patients who were in the gray zone.This study showed that the cut-off value of DHEA-S level less than 20% of the reference interval could be used for differential diagnosis of CD and adrenal CS with high sensitivity and specificity, and it should be taken into the initial evaluation. © 2022 ASTM International. All rights reserved.
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    An evaluation of both serum Klotho/FGF-23 and apelin-13 for detection of diabetic nephropathy
    (Springer Science and Business Media Deutschland GmbH, 2023) Ozdemir N.; Toraman A.; Taneli F.; Yurekli B.S.; Hekimsoy Z.
    Purpose: The aim of our study is to evaluate whether serum Klotho/FGF-23 and apelin-13 can be used as new biomarkers for detection of development of nephropathy. Methods: In this cross-sectional study, 88 type 2 diabetes mellitus (T2DM) patients and 38 healthy controls were included. The mean duration of T2DM was 11.4 ± 9.7 years. T2DM individuals were categorized into two groups as group 1 with e-GFR < 60 mL/min/1.73 m2 and group 2 with e-GFR > 60 mL/min/1.73 m2. They were also divided into two groups according to their 24 h urine albumin levels, classifying them as follows: normoalbuminuria if less than 30 mg/day and albuminuria if more than 30 mg/day. Results: Mean serum Klotho levels in the T2DM group were observed to be significantly higher than in the control group. Serum apelin-13 levels were observed to be significantly lower in the T2DM group compared to the control group (p < 0.001). In the diabetic group, apelin-13 levels were positively correlated with age, waist circumference, and albuminuria while they were negatively correlated with e-GFR. Apelin-13 levels were seen to be significantly higher in group 1 (p < 0.001). Conclusion: Apelin-13 levels were found to be significantly higher in individuals with diabetic nephropathy than in those without diabetic nephropathy. In the diabetic group, a significant relationship was detected between apelin-13 levels and albumin excretion. Based on these findings, we consider that serum Klotho and apelin-13 levels may have a protective effect on diabetic nephropathy and can additionally be used as a biomarker to predict diabetic nephropathy. © 2023, The Author(s), under exclusive licence to Hellenic Endocrine Society.
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    Comparison of clinical, hormonal, pathological and treatment outcomes of ectopic Cushing’s syndrome by sex: results of a multicenter study
    (Springer, 2024) Ciftci S.; Yilmaz N.; Selcukbiricik O.S.; Hekimsoy Z.; Canpolat A.G.; Topsakal S.; Yaylali G.F.; Misiroglu F.; Gul N.; Uzum A.K.; Hacioglu A.; Yorulmaz G.; Ozisik H.; Yurekli B.S.; Pekkolay Z.; Turgut S.; Karaca Z.; Duran C.; Kebapci M.N.; Yarman S.
    Objective: To compare clinical and hormonal data, neuroendocrine neoplasia (NEN) localization, treatment, and survival outcomes in ectopic Cushing’s syndrome (ECS) by sex. Methods: Eleven experienced centers from our country participated in this retrospective study. The clinical and hormonal features, tumor imaging, pathological results, treatment modalities, and disease courses of the patients were evaluated. Results: 28 female and 26 male patients with ECS were compared. The mean age at diagnosis, clinical characteristics, and hormonal evaluation results were similar. However, insulin-requiring diabetes mellitus (p = 0.04) and osteoporosis with fractures were more common in males (p = 0.03). While more patients with increased DHEA-S levels than the upper limit of normal were found to be higher in females, central hypothyroidism were higher in males (p = 0.02). At the diagnosis, 36 NENs (68% of females and 69% of males) were localized. Small cell lung carcinoma was higher in males (p = 0.02), and the frequency of other NENs was not different. Curative surgery was performed on 61% of females and 46% of males. Tumor size, Ki-67 labeling index, positive ACTH immunostaining, local lymph node and distant metastasis rates were similar in both sexes. In the follow-up, the tumor became visible in 7 of 10 females and 4 of 8 males after medical treatment and/or bilateral adrenalectomy. The remission rates (65% of females, 62% of males) and NEN-related death rates (14% of females, 30% of males) were similar. Conclusion: While ECS has a similar disease course in many aspects in males and females, hyperglycemia and osteoporosis are more severe in males. © The Author(s), under exclusive licence to Springer Science+Business Media, LLC, part of Springer Nature 2024.