Fakülteler / Faculties
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Item Evaluation of the Quality of Life and the Demographic and Clinical Characteristics of Patients With Pemphigus With Oral Mucosal involvement: A Multicenter Observational Study(Başkent Üniversitesi Sağlık Bilimleri Fakültesi, 2024-05-31) Polat, Asude Kara; Mulayim, Mehmet Kamil; Gur, Tugba Falay; Acar, Ayda; Bozca, Burcin Cansu; Ceylan, Can; Kilinc, Fadime; Guener, Rukiye Yasak; Albayrak, Huelya; Durdu, Murat; Aksu, Ayse Esra Koku; Nalbant, Fatma; Savk, Ekin; Bayramgurler, Dilek; Daye, Munise; Singer, Ralfi; Alatas, Emine Tugba; Erdemir, Vefa Asli; Gurel, Mehmet Salih; Uzun, Soner; Yayli, SavasIntroduction: Pemphigus vulgaris (PV) is an autoimmune disease primarily affecting the oral mucosa. Objectives: This study aimed to determine the demographic, clinical and treatment characteristics of PV patients with oral mucosal involvement and to assess the impact on their quality of life. Methods: We conducted a prospective observational study among 106 patients diagnosed with PV and presenting oral mucosal involvement. Demographic data, clinical and treatment characteristics, and quality of life questionnaires were recorded. Results: The study included 106 patients, 55 (51.89%) were male and there was a predominance of the mucocutaneous subtype in 83 individuals (78.38%). Oral mucosa was the initial site of manifestation in 44 patients (41.51%). Bilateral buccal mucosa was the most frequently affected site. The predominant symptom reported was a burning sensation, noted in 91 patients (85.85%). Oral mucosal examination revealed erosions in 85.85% of the patients. Systemic steroids were the most commonly administered treatment, and rituximab was used in 18 patients (16.98%). A positive and significant correlation was found between pemphigus severity and Oral Health Impact Profile-14, Dermatology Life Quality Index and Dermatological Quality of Life Scale scores (P < 0.05). The presence of superficial ulcers, flaccid bullae, lesion diameter >= 1 cm, and >10 lesions were factors that markedly diminished quality of life. Complete response to treatment was noted in all patients administered rituximab. Conclusions: The most common area of involvement was bilateral buccal mucosa, and the severity of PV closely correlated with a decline in quality of life measures. These results highlight the need for careful clinical oversight of PV, taking into account its effects on patients quality of life.Item Dermoscopic and Cytological Findings in Scleromyxedema(DERMATOLOGY PRACTICAL & CONCEPTUAL, 2023) Tehci, Tugba; Senyurt, Elif Burcu; Durdu, Murat; Errichetti, EnzoItem First Terbinafine-Resistant Trichophyton indotineae Isolates with Phe397Leu and/or Thr414His Mutations in Turkey(2023) Durdu, Murat; Kandemir, Hazal; Karakoyun, Ayse Sultan; Ilkit, Macit; Tang, Chao; de Hoog, Sybren; https://orcid.org/0000-0003-1247-3932; 36656402; H-9068-2019Fungal infections of the skin, nails, and hair caused by dermatophyte species continue to be a worldwide concern. The increase in terbinafine-resistant superficial dermatophytosis has become a major concern over the last decade. In this report, we presented two cases of infection with terbinafine-resistant Trichophyton indotineae, the first diagnosis of this species in Turkey. One patient exhibited erythematous pruritic patches and plaques in the inguinal and gluteal regions, while the other patient showed annular erythematous scaly plaques in the bilateral posterior thigh and gluteal regions. One patient harbored a CD36 mutation. Both strains harbored the same amino acid substitution in the squalene epoxidase gene, whereas one isolate had another unknown mutation. Clinical improvement was observed with resveratrol treatment in the patient with the CD36 mutation but not in the other patient.Item Recurrent N209* ABHD5 Mutation In Two Unreported Families With Chanarin Dorfman Syndrome(2021) Tavian, Daniela; Durdu, Murat; Angelini, Corrado; Torre, Enza; Missaglia, Sara; 0000-0003-1247-3932; 33985321; H-9068-2019ABHD5 protein is widely involved in lipid and energy homeostasis. Mutations in the ABHD5 gene are associated with the onset of Neutral Lipid Storage Disease with Ichthyosis (NLSDI), historically known as Chanarin Dorfman Syndrome (CDS). CDS is a rare autosomal recessive lipid storage disease, characterized by non-bullous congenital ichthyosiform eritrhoderma (NCIE), hepatomegaly and liver steatosis. Myopathy, neurosensory hearing loss, cataracts, nystagmus, strabismus, and mental impairment are considered additional findings. To date, 151 CDS patients have been reported all over the world. Here we described two additional families with patients affected by CDS from Turkey. Our patients were a 42 and 22-years old men, admitted to the Hospital for congenital ichthyosis. Hepatic steatosis and myopathy were also detected in both patients. ABHD5 molecular analysis revealed the presence of N209* mutation. Our data enlarge the cohort of CDS patients and provide a revision of muscle clinical findings for this rare inborn error of neutral lipid metabolism.Item TzanckNet: a convolutional neural network to identify cells in the cytology of erosive-vesiculobullous diseases(2020) Noyan, Mehmet Alican; Durdu, Murat; Eskiocak, Ali Haydar; 0000-0002-9129-6104; 33110197Tzanck smear test is a low-cost, rapid and reliable tool which can be used for the diagnosis of many erosive-vesiculobullous, tumoral and granulomatous diseases. Currently its use is limited mainly due to lack of experience in interpretation of the smears. We developed a deep learning model, TzanckNet, that can identify cells in Tzanck smear test findings. TzanckNet was trained on a retrospective development dataset of 2260 Tzanck smear images collected between December 2006 and December 2019. The finalized model was evaluated using a prospective validation dataset of 359 Tzanck smear images collected from 15 patients during January 2020. It is designed to recognize six cell types (acantholytic cells, eosinophils, hypha, multinucleated giant cells, normal keratinocytes and tadpole cells). For 359 images and 6 cell types, TzanckNet made 2154 predictions. The accuracy was 94.3% (95% CI 93.4-95.3), the sensitivity was 83.7% (95% CI 80.3-87.0) and the specificity was 97.3% (95% CI 96.5-98.1). The area under the receiver operating characteristic curve was 0.974. Our results show that TzanckNet has the potential to lower the experience barrier needed to use this test, broadening its user base, and hence improving patient well-being.Item Reply: Application of dermoscopy in folliculotropic mycosis fungoides(2019) Errichetti, Enzo; Durdu, Murat; 0000-0003-1247-3932; 31078610; H-9068-2019Item What are extraintestinal diagnostic tips in children with Crohn's disease?(2019) Canan, Oguz; Durdu, Murat; Canpolat, TubaItem A novel mutation of ABHD5 gene in a Chanarin Dorfman patient with unusual dermatological findings(2019) Eskiocak, Ali Haydar; Missaglia, Sara; Moro, Laura; Durdu, Murat; Tavian, Daniela; 31883530Background: Chanarin Dorfman Syndrome (CDS) is a rare autosomal recessive disorder characterized by the multisytemic accumulation of neutral lipids inside the cytoplasmic lipid droplets. This condition is caused by mutations in the abhydrolase domain containing 5 gene (ABHD5). In CDS the skin involvement is the prevalent and always observed clinical feature, consisting of a non-bullous congenital ichthyosiform erythroderma (NCIE). Moreover, a variable involvement of the liver and neuromuscular system can be also observed. In this report, we aimed to perform the clinical and genetic characterization of a patient affected by CDS with atypical dermatological findings, considering this rare inborn error of neutral lipid metabolism. Methods: Genomic DNA samples obtained from patient and his parents were used to perform the sequencing of the ABHD5 exons and their intron/exon boundaries. Bioinformatic analyses were performed to investigate the possible effect of the identified mutation on protein structure. Results: Here we present the case of a 29-year-old male patient with CDS, who, for long time, has been misdiagnosed as pityriasis rubra pilaris (PRP). He has a history of increasing hyperlipidemia; hepatomegaly associated with hepatosteatosis was also detected. ABHD5 molecular analysis revealed a novel missense mutation, the c.811G > A (p.G271R). Bioinformatic investigations showed that the variant has a deleterious effect on ABHD5 function, probably causing an incorrect folding of the mutant protein. Conclusions: These results highlihts the importance of genetic testing for ABHD5 in unresolved cases of patients presenting unusual skin lesions, that resemble PRP, associated with a history of hyperlipidemia and nonalcoholic fatty liver.Item Chanarin Dorfman Syndrome: A Case Report(2015) Ozkale, Yasemin; Erol, Ilknur; Canan, Oguz; Durdu, MuratChanarin Dorfman Syndrome is a multisystem inherited metabolic disorder associated with congenital ichthyosis and accumulation of lipid droplets in varios types of cells. Observation of lipid vacuoles in neutrophils (Jordan's anomaly) in peirpheral blood smears in patients with ichthyosis is diagnostic for Chanarin Dorfman Syndrome. Since the initial case was reported by Dorfman in 1974, nearly 50 cases have been reported in the literature, and the majority were from Middle East countries. In this report we presented a 5 year old patient who admitted to our hospital for creatine kinase elevation and diagnosed as Chanarin Dorfman Syndrome with clinical and laboratory findings.Item Cytology in the Diagnosis of Dermatological Diseases: Tzanck Smear(2016) Durdu, Murat; 0000-0003-1247-3932; H-9068-2019Cytology is a simple, quick, reliable, and inexpensive diagnostic method based on the investigation of characteristic features of individual cells. In this diagnosis method, cellular materials are obtained by scraping method, slit-skin smear, touch smear or fine needle aspiration method according to the types of skin lesions. Obtained materials are immediately spread onto microscopic slide as a thin layer. Slides were stained with various cytological dyes, and examined under the light microscope. Until today, dermatological cytology has been used in the diagnosis of various erosive-vesiculobullous, pustular, granulomatous, and tumoral skin lesions. In this review article, the sampling methods for dermatological cytology were described, and the cytologic findings of skin diseases which could provide a rapid diagnosis were discussed.