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The association between Interleukin (IL)-4 gene intron 3 VNTR polymorphism and alopecia areata (AA) in Turkish population.

OBJECTIVE Alopecia areata (AA) is hypothesized to be an organ-specific autoimmune disease of hair follicles mediated by T cells. As immunological and genetic factors have been implicated in the pathogenesis of AA, the purpose of the present study was to investigate possible associations between the functional Interleukin (IL)-4 gene intron 3 VNTR polymorphism and AA susceptibility and disease progression in Turkish population. METHODS The study group consisted of 116 unrelated patients with AA and 125 unrelated healthy controls. Genomic DNA was isolated and IL-4 gene 70 bp VNTR polymorphism determined by using polymerase chain reaction (PCR) with specific primers. RESULTS No association was observed between AA patients and controls according to genotype distribution (p=0.051). The allele distribution of IL-4 gene intron 3 VNTR polymorphism was statistically different between AA patients and control group (p=0.026). The frequency of P1 allele in patients was significantly higher than that in the control group. When the P2P2 genotype was compared with P1P2+P1P1 genotypes, a statistically significant difference was observed between patients and controls (p=0.036). Intron 3 VNTR polymorphism in the IL-4 gene was found to be associated with AA susceptibility in Turkish population. CONCLUSION The results suggest that IL-4 VNTR polymorphism in the intron 3 region may be a risk factor for the development of AA among Turkish population. This is the first to report that intron 3 VNTR polymorphism in the IL-4 gene is associated with AA susceptibility.

Association between interleukin 4 gene intron 3 VNTR polymorphism and recurrent aphthous stomatitis in a cohort of Turkish patients.

OBJECTIVE Recurrent aphthous stomatitis (RAS) is one of the most common oral mucosal diseases, with a multifactorial etiopathogenesis, an interaction between predisposing factors and/or systemic conditions and immunological components in genetically predisposed subjects. Although there is no clear genetic mode of inheritance, there is evidence that inheritance of specific gene polymorphisms may predispose individuals to RAS. The purpose of the present study was to investigate a possible association between the functional interleukin 4 (IL4) VNTR genetic polymorphism and RAS in a sample of Turkish patients. METHODS The study included 145 unrelated patients with a clinical diagnosis of RAS and 150 unrelated healthy controls. Genomic DNA was isolated and IL4 gene 70 bp VNTR polymorphism determined by using polymerase chain reaction (PCR) with specific primers. RESULTS The distribution of genotype and allele frequencies of IL4 gene intron 3 VNTR polymorphism was statistically different between RAS patients and control group (p<0.0001 and p<0.0001, respectively) P2P2 genotype and P2 allele were also found to be protective with a lower risk for susceptibility to RAS (p<0.0001). CONCLUSION The results of this study suggest that intron 3 VNTR polymorphism in the IL4 gene is associated with RAS susceptibility in Turkish population.

Oxidative stress status in patients with melasma

Abstract Background: Melasma is an acquired skin disease characterized clinically by development of gray–brown macules or patches. The lesions have geographic borders and most often seen on face and less frequently on the neck and forearms. Pathogenesis has not been completely understood yet. Although the disease constitutes a very disturbing cosmetic problem, it has not obtained an efficient treatment. There were not any studies in the literature that evaluates the role of oxidative stress in melasma. Objectives: The evaluation of the role of oxidative stress in melasma. Methods: Fifty melasma patients and 50 healthy volunteers were included in the study. The diagnosis was made clinically and the patients were evaluated by Melasma Area Severity Index. Superoxide dismutase (SOD), glutathione peroxidase (GSH-Px) enzyme activities and malondialdehyde, nitric oxide, protein carbonyl levels were measured both in the melasma group and the control group. Results: SOD and GSH-Px enzyme activities were significantly higher in the patient group in comparison with the control group (p < 0.001). Protein carbonyl levels were significantly lower in the patient group (p < 0.001). Conclusion: The results show that the balance between oxidant and anti-oxidants was disrupted and the oxidative stress increased in melasma. These results improve the understanding of etiology–pathogenesis of the disease and its treatment.

Effects of isotretinoin on the inflammatory markers and the platelet counts in patients with acne vulgaris

Abstract Objective: Oral isotretinoin is an efficient treatment used commonly in treating the moderate and severe acne. It has various side effects that affect many systems in the body. In this study, we are planning to examine the possible effects of the oral isotretinoin on platelet density, mean platelet volume, neutrophil lymphocyte rate, platelet lymphocyte rate, and red-blood-cell distribution width level. Methods: Twenty-eight males and 84 females, 112 patients in total, diagnosed with acne vulgaris and receiving oral isotretinoin treatment were examined retrospectively. The full blood parameters of the patients before the treatment and in the third month of the treatment were recorded. Results: A statistically meaningful increase was observed in the platelet density, hemoglobin levels. And a statistically significant decrease has been determined in the red-blood-cell distribution width level while no meaningful differences were detected in the mean platelet volume, neutrophil lymphocyte rate, platelet lymphocyte rate, and white blood cell count. Conclusions: The oral isotretinoin treatment has been demonstrated as having increased the platelet density, hemoglobin levels and having decreased red-blood-cell distribution width level significantly.

Association between MEFV gene mutations and recurrent aphthous stomatitis in a cohort of Turkish patients

Recurrent aphthous stomatitis (RAS) has a multifactorial etiopathogenesis, an interaction between predisposing factors and/or systemic conditions and immunological components in genetically predisposed subjects. The Mediterranean fever (MEFV) gene has already been identified as being responsible for familial Mediterranean fever. Because the association between MEFV gene mutations and Behçets disease has been reported before in several studies, we considered that the role of MEFV gene mutations should be studied in patients with RAS, because of the clinical similarities of both diseases. The aim of this study was to explore the frequency and clinical significance of MEFV gene mutations in a cohort of Turkish patients with RAS. The study population comprised 100 unrelated patients with a clinical diagnosis of RAS and 156 healthy controls. Genomic DNA was isolated and genotyped using polymerase chain reaction and restriction fragment length polymorphism for the four MEFV gene mutations (M694V, M680I, V726A and E148Q). There were statistically significant differences of the MEFV gene mutation carrier rates and allele frequencies between RAS patients and healthy controls (P = 0.042, odds ratio [OR] = 1.9, 95% confidence interval [CI] = 1.01–3.41; and P = 0.039, OR = 1.8, 95% CI = 1.02–3.14, respectively). Even if it is not statistically significant, the E148Q allele frequency was higher in patients with RAS than the control group. A statistically significant increased prevalence of MEFV variants in RAS patients was found. This is the first study to report that missense mutations of MEFV is associated with RAS in the Turkish population.

Stevens-Johnson Sendromu sonrasında gelişen Fox-Fordyce hastalığı: olgu sunumu

Fox-Fordyce hastaligi (FFH), apokrin ter bezlerin kronik, nadir gorulen, klinik olarak kasintili papullerle karakterize bir hastaligidir. Kadinlarda daha sik gorulur ve etyolojisi tam olarak net degildir. Bu makalede Stevens-Johnson Sendromu sonrasinda dudaklarinda FFD gelisen 17 yasinda bir erkek hasta sunuldu.

Effects of colchicine treatment on mean platelet volume and the inflammatory markers in recurrent aphthous stomatitis

Abstract Objective: Recurrent aphthous stomatitis (RAS) is the most commonly seen inflammatory disease in the oral mucosa affecting 5%–25% of the general population. The etiology of RAS is still not fully understood and its treatment is very challenging. With its anti-inflammatory affects, colchicine is used for systematic treatment of RAS. In this study, we want to examine the effects of colchicine on platelet density, mean platelet volume (MPV), neutrophil–lymphocyte ratio (NLR), platelet–lymphocyte ratio (PLR) and red cell distribution width (RDW) of the patients with RAS. Methods: Fifteen male and 45 female RAS patients that were taking colchicine were investigated retrospectively. The whole blood parameters of the patients were observed before starting colchicine treatment and in the third month of colchicine treatment. Results: Significant decrease in the levels of NLR, white blood cell count and RDW of the RAS patients under colchicine treatment was observed. Moreover, no changes were seen on MPVs, PLRs and hemoglobin (Hb) levels. Conclusion: It was determined that colchicine lowers the levels of NLR, white blood cell count and RDW. Furthermore, no changes were seen on MPVs, PLRs and Hb levels.

Hereditary angioedema type 2 presented as an orbital complication of acute rhinosinusitis

Hereditary angioedema is an autosomal dominant and life-threatening disorder characterized by recurrent episodes of non-pitting edema affecting the skin, respiratory system and digestive tracts and caused by a congenital deficiency or function defect of the C1 esterase inhibitor. Preseptal cellulitis is defined as an infection of the tissues of the anterior orbital septum. It is generally caused by complications from an upper respiratory tract infection, dacryocystitis, dermal infection, and, rarely, sinusitis. The disease presents with orbital pain, edema on the eyelids, erythema, and fever. In this case, a child with hereditary angioedema type 2 who presented as mimicking a complication of acute sinusitis is discussed.

Depression, Anxiety Levels and Quality of Life in Patients with Seborrheic Dermatitis

Objective: In this study, we aimed to determine the risk of depression and anxiety levels of seborrheic dermatitis (SD) and effect of illness on quality of life. Methods: We conduct this study among patients referred to dermatology outpatient clinic in our hospital. Patients diagnosed with SD according to medical history and dermatological examination were included in the study. After recording sociodemographic information such as age, gender, education level and their clinical features of SD, Hospital anxiety and depression scale (HAD) and Short form-36 (SF-36) were administered to patients. Results: We enrolled 50 patients in the study (27 females and 23 males). It was determined that 32% of patients were at risk for anxiety while 34% were at risk for depression. Deterioration in all fields, foremost emotional role functioning and social functioning, were determined in SD patients. Conclusion: It was evaluated that depression and anxiety levels of SD patients were high and quality of life is impaired in patients with SD.

Analysis of paraoxonase-1 (PON1) gene polymorphisms in vitiligo / Vitiligo’da paroksinaz-1 (PON1) gen polimorfizminin araştırılması

Abstract Objective: Vitiligo is a chronic autoimmune depigmentation disease, which is characterized by loss of function of the melanocytes in epidermis. Recent studies suggest that oxidant/antioxidant status plays important role in the pathogenesis of vitiligo. We aimed to investigate possible associations between vitiligo and PON1 M / L55 and PON Q192R gene polymorphisms in the Turkish community. Methods: The 57 patients with vitiligo and 69 healthy controls were enrolled into the study. Genotyping was performed to identify PON1 M / L55 and PON Q192R gene polymorphism. Genotype and allele frequencies were compared between patients with vitiligo and healthy control group. Results: In patients (p=0.0061) and healthy controls (p=0.550), there was no significant statistical difference between L55M and Q192R polymorphisms of the PON1 gene. However, when L55M polymorphism was compared to MM homozygous genotype and LL+LM genotypes, it was notably higher in controls than in patients, which seems to be protective against the disease (p=0.034, OR:0. 3, 95% CU: 0.08-0.93). Although, there was no not a statistical difference in allele frequencies of Q192R polymorphism between patients and controls (p=0.242), the M allele of L55M polymorphism was significantly higher in controls than in patients with vitiligo, which means that it might be protective against vitiligo (p=0.009, OR: 0.48, 95% CI: 0.27-0.84). Conclusion: Even though there were no differences between patients and controls, this is the first study that investigated the possible associations between the PON1 M/L55 and PON Q192R gene polymorphisms within the Turkish population. Özet Amac: Vitiligo epidermisde melanositlerin fonksiyon kaybı ile karakterize kronik otoimmun bir depigmentasyon hastalığıdır. Son calışmalar oksidan / antioksidan durumum vitiligo patogenezinde onemli bir rol oynadığını ileri surmektedir. Bu calışmada, Turk toplumunda vitiligo ile PON1 M/L55 ve PON Q192R gen polimorfizmlerinin olası ilişkisini araştırmayı amacladık. Metod: Calışmaya vitiligolu 57 hasta ve 69 sağlıklı kontrol alındı. Genotipleme PON1 M / L55 ve PON Q192R gen polimorfizmlerinin belirlenmesi amacıyla yapılmıştır. Genotip ve allel frekansları vitiligo ve sağlıklı kontrol grubunda olan hastalar arasında karşılaştırıldı. Bulgular: Hastalarda (p=0,061) ve kontroller (p=0,550) arasında PON1 geninin L55M ve Q192R polimorfizmlerinde istatistiksel olarak anlamlı bir farklılık yoktu. Ancak L55M polimorfizmi, MM homozigot genotipi, LL+LM genotipleri ile karşılaştırıldığında hastalara gore kontrollerde, anlamlı olarak daha yuksek bulundu ve bu hastalığa karşı koruyucu olduğu goruldu (p=0,034, OR: 0,3, %95 CI: 0,08-0,93). Hastalar ve kontrol arasında Q192R polimorfizminin alel frekanslarında istatistiksel olarak anlamlı bir fark yoktu (p=0,242). Ancak L55M polimorfizminin M alellinin kontrollerde hastalara gore istatistiksel olarak anlamlı derecede yuksek olduğu ve ayrıca bu alellin hastalığa karşı koruyucu olduğu gosterildi (p=0,009, OR:0,48, %95 CI: 0,27-0,87). Sonuc: Hasta ve kontrol grubu arasında anlamlı bir fark olmamasına rağmen bu calışma Turk populasyonunda vitiligo ile PON1 M/L55 ve PON Q192R gen polimorfizmi arasındaki olası ilişkiyi araştıran ilk calışmadır.