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Öğe Gorlin's Syndrome Presenting with Acrochordon Like Lesions(Deri Zuhrevi Hastaliklar Dernegi, 2010) Polat, Mualla; Atasoy, Halil Ibrahim; Senen, Dilek; Yildirim, Yasemin; Yilmaz, FahriNevoid basal cell carcinoma syndrome is a genodermatosis with autosomal dominant inheritance. Its clinical findings include multiple basal cell carcinomas, jaw cysts, pitting of the hands and feet, skeletal abnormalities, ectopic calcifications, and other less common abnormalities. We describe the development of pedunculated papules in a child with a clinical appearance of acrochordons that when removed showed basal cell carcinoma. These findings suggest that acrochordon in a child may be a sign leading to early diagnosis and deserve biopsy. (Turkderm 2010; 44: 96-8)Öğe Harlequin Syndrome With Hemifacial Atrophy: A Case Study(Deri Zuhrevi Hastaliklar Dernegi, 2012) Polat, Mualla; Tug, Esra; Atasoy, Halil Ibrahim; Parlak, Ali HaydarHarlequin syndrome is an autonomic syndrome of heat, emotion and exercise induced flushing and sweating limited to one side of the face in combination with impairment of sweating and flushing on the contralateral side. Facial flushing and sweating has been named the Harlequin Sign. This rare feature, Harlequin Sign, represents a local autonomic dysfunction due to a cervical sympathetic deficit located at the pre or postganglionic level on the non-flushing side. Harlequin syndrome overlaps with several other syndromes. Parry-Romberg syndrome is a rare clinical entity of an unknown etiology. It is also described as progressive hemifacial atrophy. We report a nine-years old Turkish boy with asymmetrical facial sweating, flushing and hemifacial atrophy on the right side of his face. Facial flushing and sweating are induced by exercise, thermal, and emotional stimuli. (Turkderm 2012; 46: 50-2)Öğe Identification of an Alu-mediated 12.2-kb deletion of the complete LPAR6 (P2RY5) gene in a Turkish family with hypotrichosis and woolly hair(Wiley-Blackwell, 2012) Mahmoudi, Hassnaa; Tuğ, Esra; Parlak, Ali Haydar; Atasoy, Halil Ibrahim; Ludwig, Michael; Polat, MuallaHypotrichosis is a rare form of progressive hair loss characterized by sparse and occasionally woolly hair that is curly and breaks easily. Disease-causing mutations in LIPH, LPAR6 and KRT74 have recently been identified. We describe a four-generation pedigree from Turkey following an autosomal recessive pattern, in which the four affected members had hypotrichosis and woolly hair. By sequencing LPAR6 and the use of SNP arrays, we revealed a homozygous loss of the entire LPAR6 gene in the affected individuals. We hypothesize that the 12-kb deletion resulted from illegitimate recombination secondary to slip-replication. The orientation of three Alu repeats around LPAR6 may have provoked the formation of a triple-barrel structure during replication, thereby allowing strand slipping. This first report of complete LPAR6 loss expands the spectrum of known LPAR6 mutations and suggests a novel mechanism for this gene and for the formation of DNA rearrangements in general.Öğe The importance of inflammation markers in the diagnosis of COVID-19 in children(2022) Yoldaş, Meyri Arzu; Atasoy, Halil Ibrahim; Taş, Sinan; Dinçel, Gökçe Kaya; Dilek, MustafaAbstract Aim: To predict the presence of COVID-19 by readily available hematological and bio- chemical tests. Materials and Methods: A total of 58 children with signs indicative of COVID-19 (28 PCR positives for SARS-CoV2 and 30 negatives) were included in this retrospective study. Clinical and laboratory parameters have been compared between these groups. Results: White blood cell counts, RDW, MPV, NLR, PLR, LDH and CRP values were found to be higher in pediatric patients with positive PCR tests than children with negative PCR tests (p<0.05). There was a significantly positive correlation between CRP and NLR (r=.566, p<0.001), CRP and PLR (r=.462, p<0.001). Conclusion: CRP, NLR and PLR, which are frequently used as inflammation mark- ers, can help predict PCR positivity for SARS-CoV2. These easy-to-use tests can guide diagnosis in countries where access to PCR tests is limited.Öğe The importance of vitamins in pediatric COVID-19 patients(2022) Yoldaş, Meyri Arzu; Atasoy, Halil IbrahimIntroduction: This study aims to determine the effects of vitamin D (25-OH D), vitamin B12, and folic acid levels on the development and severity of the disease in pediatric COVID-19 patients. Methods: The files of 104 pediatric patients aged 0-17 years who applied to the pediatric service of our hospital with the suspicion of COVID-19 were reviewed retrospectively. Patients with positive PCR tests belong to the COVID-19 group (Group P), and patients with negative PCR tests were included in the control group (Group C). Patients diagnosed with COVID-19 were further divided into two groups: low vitamin D (Group I) and normal vitamin D (Group II). Results: The levels of vitamin D (25-OH D) and B12 were statistically significantly lower in the COVID-19 patient group (p<0.05). Discussion and Conclusion: We think that adequate vitamin B12 and vitamin D (25-OH) levels in children may be important in fighting against the COVID-19 infection.Öğe The Predictors of Pneumonia in Children with COVID-19(2023) Yoldaş, Meyri Arzu; Tayfur, Aslı Çelebi; Daniş, Ayşegül; Hanci, Fatma; Atasoy, Halil Ibrahim; Bolu, Semih; Cosgun, ZelihaThe purpose of this study was to evaluate the relationship between the presence of pneumonia and blood parameters in cases of Coronavirus disease (COVID-19) and to examine their predictive characteristics in terms of pneumonia. We reviewed the file records of 151 pediatric patients with a diagnosis of COVID-19 confirmed by the real time-reverse transcription polymerase chain reaction test in nasopharyngeal swabs. The patients were divided into two groups based on direct chest X-ray and computed tomography results in [Group 1 (n:41), with pneumonia findings, and Group 2 (n:110), with no pneumonia findings]. The groups’ demographic data, clinical and laboratory findings were compared. Pulmonary involvement was determined in 41 (27.1%) of the 151 patients. The [body mass index (BMI) Z-score], red blood cell distribution width (RDW), mean platelet volume (MPV), neutrophil lymphocyte ratio, passive leg raise, and D-dimer levels were significantly higher in patients with pneumonia than those without pneumonia in our study. Based on multivariate logistic regression analysis, BMI Z-score, MPV, and RDW were found to be independent risk factors of pneumonia in patients. The current study showed higher levels of blood parameters in patients with coronavirus disease 2019 (COVID -19) presenting with pneumonia than those without pneumonia. We suggest that BMI-Z score and MPV value may assist in predicting pulmonary involvement in patients with COVID-19.Öğe Screening of family members of children with Familial Mediterranean Fever: True - autosomal and pseudo - autosomal inheritance(2008) Ça?lar, Musa Kazim; Altugan, Fatma Şemsa; Özyurt, Hüseyin; Atasoy, Halil IbrahimObjectives: Screening of family members of children with Familial Mediterranean Fever (FMF) has been carried out to detect new potential patients and to analyze the type of inheritance other than autosomal recessive. Methods: Marenostrin encoding fever gene mutational analysis has been performed in 83 subjects - including 19 newly diagnosed children with FMF and their family members. Results: Fourteen additional patients with FMF were diagnosed by screening family members. Pseudo-dominant and true dominant inheritances were detected in two families respectively, while the rest of the patients exhibited autosomal recessive mode of inheritance. Conclusion: Screening the family members of newly diagnosed FMF patients provides the opportunity to reveal undiagnosed new cases and to understand the mode of inheritance.Öğe Similarities and differences between familial Mediterranean fever (FMF) and multisystem inflammatory syndrome (MIS-C) in children(2023) Yoldaş, Meyri Arzu; Tayfur, Aslı Çelebi; Hanci, Fatma; Daniş, Ayşegül; Bolu, Semih; Atasoy, Halil IbrahimAim: We aimed to reveal the similarities and differences between the rare and severe multisystem inflammatory syndrome (MIS-C) and active familial Mediterranean fever (FMF) disease in children. Our study may help in the early recognition of MIS-C syndrome in children and distinguish it from other diseases with similar symptoms. Methods: We evaluated the demographic and clinical characteristics, laboratory findings, treatments and outcomes of patients with MIS-C syndrome and active FMF. Results: The clinical and laboratory findings of a total of 66 patients hospitalized in our pediatric clinic with the diagnosis of active FMF (n:42) and MIS-C syndrome (n:24) were reviewed retrospectively. The reason for pediatric emergency admission was determined as resistant fever in all patients. When the clinical findings of the patients were compared, it was determined that joint and abdominal pain in the FMF group and vomiting, rash, cough, Lenfadenopati (LAP) and myalgia findings in the MIS-C group were statistically significantly higher (p<0.05). When the laboratory findings were evaluated between the two groups, the lymphocyte count and vitamin D levels were statistically significantly lower, while the leukocyte count, glucose, C-reactive protein (CRP), ferritin, lactate dehydrogenase (LDH), sedimentation, aspartate aminotransferase (AST), alanine aminotransferase (ALT) were found to be significantly higher in the group with MIS-C syndrome (p<0.05 ). Conclusion: We think that the results of our study may guide pediatricians and clinicians in the early differential diagnosis and management of MIS-C, by showing the similarities and differences among MIS-C patients from autoinflammatory diseases such as FMF.Öğe Submandibular gland pleomorphic adenoma in a seven-year-old child: a case report.(2010) Köybaşi, Serap; Süslü, Ahmet Emre; Tezcan, Erkan; Atasoy, Halil Ibrahim; Biçer, Yusuf Özgür; Boran, ÇetinSalivary gland neoplasms are rare in the pediatric age group. Pleomorphic adenomas in the submandibular gland are rarer. In this article, we present a seven-year-old female with a slowly growing mass in her right submandibular area. The firm, mobile and painless mass was about 2x3 cm in size and with bimanual palpation it was indiscriminated from the submandibular gland. Magnetic resonance imaging with contrast revealed a heterogeneous and minimally lobulated mass within the submandibular gland with clearly defined borders. Fine needle aspiration biopsy revealed a diagnosis of pleomorphic adenoma and we performed right submandibular gland excision under general anesthesia. The histopathological diagnosis was pleomorphic adenoma with sparse mitotic figures that may be interpreted as having a potential of malignant transformation. This patient who was followed up for one year without any complication is to our knowledge the youngest case cited in the English-language literature.Öğe Unique variant of Adams-Oliver syndrome with dilated cardiomyopathy and heart block(Wiley, 2013) Atasoy, Halil Ibrahim; Tuğ, Esra; Yavuz, Taner; Cine, NaciReported herein is the case of a 2-year-old boy with Adams-Oliver syndrome who presented with dilated cardiomyopathy and complete atrioventricular block. The patient had aplasia cutis congenita with partial aplasia of the skull bones, and terminal transverse limb malformations characteristic of the disease. Although congenital cardiac malformations may be associated with the syndrome, dilated cardiomyopathy has not been previously reported to be associated with the syndrome.