Wos Açık Erişimli Yayınlar
Permanent URI for this collectionhttps://hdl.handle.net/11727/10754
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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.Item Role of Latex Hypersensitivity in Patients with Chronic Urticaria(2016) Durdu, Murat; Seckin, Deniz; 0000-0003-1247-3932; H-9068-2019Objectives: In this study, we aimed to determine the frequency of latex hypersensitivity in patients with chronic urticaria and to investigate the effect of latex-cross reacting food on the clinical course of the disease. Methods: This study includes 100 patients who admitted to our dermatology clinic with chronic urticaria, 100 health care providers and 100 healthy individuals. In patients with chronic urticaria, latex skin prick test was performed in addition to routine laboratory investigations. In the control group, prick test was performed only with latex. Changes in urticaria activity scores before and after latex containing products and cross reacting food restrictions were statistically compared in patients with urticaria. Results: Latex skin prick test was positive in 4 (4%) patients with urticaria and in 10 (10%) health care providers. Positive reaction was not observed in the healthy control group. Latex hypersensitivity in patients of urticaria was higher than healthy individuals, but the difference was not statistically significant. Urticaria activity scores did not change significantly after avoiding latex-cross reacting foods and latex-containing products. Conclusion: Latex hypersensitivity in patients with chronic urticaria was not found to be higher than the healthy individuals. In latex-sensitive patients, avoidance of latex-cross reacting foods and latex-containing products do not change the clinical course of the disease.Item Cytologic Findings of Eosinophilic Dermatoses: a Retrospective Analysis of 88 Patients(2016) Durdu, Murat; 0000-0003-1247-3932; H-9068-2019Objectives: Eosinophilic skin infiltration may develop as a result of a variety of infectious, inflammatory, and neoplastic diseases. To distinguish these diseases histopathologic examination is usually considered. So far, only a few studies have investigated cytologic findings of some eosinophilic diseases. In this retrospective study, our aim was to define the cytologic findings of eosinophilic dermatoses and to develop an algorithmic approach based on the cytologic findings. Methods: Patients who applied to the dermatology polyclinic through January 2010 to January 2015 could not be diagnosed only by clinical examination were further evaluated with May-Grunwald-Giemsa-stained preparations by a dermatologist. Patients with abundant eosinophils in microscopic examination were included in this study. After routine cytologic examination additional staining was also performed in some of these patients. The final diagnosis was established according to their clinical laboratory and histopathologic findings. Results: Over a 5-year period, 88 of 3.214 patients (2.7%) who underwent cytologic examination at our center had plenty of eosinophils. According to the final diagnoses, 44 lesions (50%) were spongiotic dermatitis, 17 lesions (19.3%) were infectious diseases, 13 lesions (14.8%) were autoimmune bullous, 11 lesions (12.5%) were idiopathic eosinophilic diseases, and 3 lesions (3.4%) were granulomatous diseases. Conclusion: Cytologic examination of people with eosinophilic skin diseases cytologic findings accompanying eosinophils could help for diagnosis of some diseases.Item Quick cytological diagnosis and rapid improvement with imiquimod cream in a case of orf infection(2016) Durdu, MuratOrf is a viral infection caused by the orf virus known to be the largest DNA virus that belongs to the Parapoxvirus genus. The disease occurs 3-7 days after contact with sheep and goats. Lesions usually resolve spontaneously within 6-8 weeks. On the other hands, infection may show progressive course in immunosuppressed patients. It has been reported that imiquimod cream can provide rapid improvement. We present the case report of a 48-year-old woman who developed erythematous nodular lesions two days after contact with animal. Tzanck smear examination was performed from nodular lesion, and cytoplasmic inclusions (Guarnieri bodies) were detected. The lesion rapidly resolved with topical imiquimod cream.