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Öğe Alkaptonuria: Case report [Alkaptonüri](Turkiye Klinikleri, 2015) Akyürek, Fatma Tunçez; Bilgiç, Ö.; Kurtipek, Gülcan Saylam; Gezer, İlknur Albayrak; Altınyazar, Hilmi CevdetAlkaptonuria is a rare autosomal recessive condition arising as a result of a genetic deficiency of the enzyme homogentisic acid oxidase which has a role in the metabolism of tyrosine and phenylalanine. Blue-black discoloration which developes from excessive accumulation of homogentisic acid in various tissues such as connective tissue and cartilage due to deficiency of homogentisic acid oxidase enzyme, called ochronosis. The most important causes of morbidity are ochronotic arthropathy and cardiovascular involvement seen in fourth and sixth decades. There is no definitive treatment and treatment options generally are intended to prevent complications. Herein we report a 66-year-old woman diagnosed with alkaptonuria who presented with blue discoloration in auricle and nails. Alkaptonuria is a progressive systemic disease and it should be considered in the presence of appropriate clinical findings. © 2015 by Türkiye Klinikleri.Öğe Androgen-related Psychiatric Variables in Women with Idiopathic Hirsutism(ELSEVIER FRANCE-EDITIONS SCIENTIFIQUES MEDICALES ELSEVIER, 2015) Bilgiç, A.; Bilgiç, Ö.; Hergüner, S.; Altınyazar, Hilmi Cevdet[Abstract not Available]Öğe Autistic trait, empathy, and attention-deficit/hyperactivity symptoms in women with idiopathic hirsutism(Medknow Publications, 2015) Bilgiç, Ayhan; Bilgiç, Ö.; Hergüner, Sabri; Altınyazar, Hilmi CevdetAim: Many psychiatric disorders, including attention-deficit/hyperactivity disorder (ADHD), disruptive behavioral disorders, autism spectrum disorders, and some psychiatric characteristics, such as poor empathizing, are regarded to be related to elevated levels of androgens or androgen sensitivity. Thus, numerous studies have investigated the potential association between androgen-related physical diseases and these psychiatric conditions. Idiopathic hirsutism (IH) is a disease characterized by an increased sensitivity of the pilosebaceous unit to circulating androgens in women. The purpose of this study was to examine whether IH has a relationship with androgen-related psychiatric conditions. Materials and Methods: Totally 37 females with IH and 33 healthy female controls were included in this study. Childhood and present ADHD symptoms of the participants were assessed using the Wender Utah Rating Scale (WURS) and the Adult ADHD Self-Report Scale, respectively. The Autism-spectrum quotient and the interpersonal reactivity index were used to assess autistic traits and different aspects of empathy. Hirsutism severity was measured using the Ferriman-Gallwey scoring system. Results: No significant difference was found between the patients and controls on psychiatric questionnaire scores, except for a trend for subjects with IH to show higher levels of the school-associated problems than controls according to WURS. The severity of hirsutism was strongly correlated with the WURS irritability and behavioral problems/impulsivity subscores and WURS total score, and moderately correlated with the WURS attentional deficit subscore. Conclusions: This study provides preliminary evidence that common etiological factors may be involved in both the severity of IH, ADHD, and coexisting disruptive behavioral problems.Öğe The relationship between the second to fourth digit ratio and acne vulgaris(WILEY-BLACKWELL, 2014) Bilgiç, Ö.; Doğdu, M.; İslamoğlu, Gizem Kaya; Altınyazar, Hilmi CevdetBackground Although the pathophysiology of acne vulgaris (AV) is not clear, androgens are thought to play an important role in its development through either an increased level of circulating androgens or end-organ sensitivity. The ratio of the length of the second and fourth digit (2D : 4D) has been hypothesized to reflect prenatal androgen exposure and/or an individual's sensitivity to androgens, with a low 2D : 4D ratio suggesting high prenatal androgen exposure. Interestingly, the prenatal androgen peak time period coincides with both the development of the sebaceous gland and digits. Objectives To determine the relationship between digit ratio and AV. Methods Vernier caliper was used to take digit measurements of both patients and controls. Acne severity was assessed by using the International Consensus Conference on Acne Classification System. Results Data of 251 patients with AV (67.7% female) and 120 healthy controls (72.5% female), aged 16-40 years, were analysed. The 2D : 4D ratios of female patients with AV were significantly lower than healthy females in both hands. However, there was no significant difference between male acne cases and controls. Acne severity was positively correlated with the left 2D : 4D ratios and mean 2D : 4D ratio, whereas the duration of acne was negatively correlated with the right 2D : 4D ratios in females. Conclusion Our results support the anatomical evidence of in utero androgen exposure and/or an individual's sensitivity to androgens in patients with AV and suggest that the 2D : 4D ratio might be a predictor of acne development, duration, and severity grade, at least in female patients.Öğe Serum cytokine and chemokine profiles in patients with alopecia areata(TAYLOR & FRANCIS LTD, 2016) Bilgiç, Ö.; Sivrikaya, Abdullah; Ünlü, Ali; Altınyazar, Hilmi CevdetBackground: Most evidence supports the role of altered T cell-mediated immunity in the pathogenesis of alopecia areata (AA). Tough cytokines and chemokines play an important role in the immune process of AA, their expressions have been examined in limited studies. Objective: To determine serum cytokine levels of TNF-alpha, IL-6, and IL-23, and some of the Th1-(CXCL9), Th2-(CCL17), and Th17-associated (CCL20 and CCL27) chemokines in patients with AA. Methods: Forty patients with AA and 40 healthy controls were enrolled in the study. Serum concentrations of cytokines and chemokines were measured using enzyme-linked immunoassay techniques. Results: The mean serum levels of TNF-alpha, IL-6, IL-23, CXCL9, CCL17, CCL20, and CCL27 in AA patients were significantly higher than in the controls. However, with logistic regression analyses, only CCL17 and CCL27 levels showed a positive relationship, and IL-23 levels showed a negative relationship, with the presence of AA. Furthermore, serum CCL27 levels were positively correlated with AA severity. Conclusion: This study suggests that CCL17 and CCL27 may have an aggravating effect, whereas IL-23 may have a protective effect for the development of AA. Additionally, serum CCL27 levels may be useful as marker of disease severity.