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Item Coexistence of Familial Mediterranean Fever and Hyperimmunoglobulinemia D Syndrome in a Child(2015) Yilmaz, Resul; Sezer, Taner; Esmeray, Haluk; 0000-0001-7672-8100; 0000-0002-2278-1827; A-2825-2012; AAJ-5931-2021Hereditary periodic fever syndromes are Mendelian inherited single gene diseases which are also known as hereditary autoinflammatory syndromes, are characterized by recurrent attacks of fever and inflammation. Familial Mediterranean Fever and Hyperimmunoglobulinemia D syndrome are prototypes and are inherited autosomal recessively. The diagnosis is based on clinical course, family history and is confirmed with genetic mutation analysis. We describe a 5-year-old boy who had recurrent attacks of fever, skin rash, and cervical lymphadenopathy since he was 2 years old. His genetic analysis revealed homozygous M694V and V377I for MEFV and MVK gene respectively. Due to our knowledge, this is the first report of a patient who has both HIDS and FMF clinical and genetic features.Item Interactions between Helicobacter pylori and gastroesophageal reflux disease(2019) Yucel, Oya; 0000-0001-5752-7493; 30151653; AAU-1657-2020Interactions between Helicobacter Pylori (HP) and gastroesophageal reflux disease (GERD) are a complex issue. Several pathophysiological factors influence the development and the course of GERD, HP infection might be only one of these. Many studies emphasize the co-existence of these diseases. HP infection could contribute to GERD through both a protective and an aggressive role. Gastric acid secretion is a key factor in the pathophysiology of reflux esophagitis. Depending on the type of gastritis related to HP, acid secretion may either increase or decrease. Gastritis in corpus leads to hypoacidity, while antrum gastritis leads to hyperacidity. In cases of antral gastritis and duodenal ulcers which have hyperacidity, the expectation is an improvement in pre-existing reflux esophagitis after eradication of HP. In adults, HP infection is often associated with atrophic gastritis in the corpus. Atrophic gastritis may protect against GERD. Pangastritis which leads to gastric atrophy is commonly associated with CagA strains of HP and it causes more severe gastric inflammation. In case of HP-positive corpus gastritis in the stomach, pangastritis, and atrophic gastritis, reflux esophagitis occurs frequently after eradication of HP. Nonetheless, as a predisposing disease of gastric cancer, HP should be treated. In conclusion, as the determinative factors affecting GERD involving in HP, detailed data on the location of gastric inflammation and CagA positivity should be obtained by the studies at future.Item Thrombin lag time is increased in children with mild asthma(2019) Koksal, B.T.; Eker, I.; Ozbek, N.Y.; Dogan, I.; Ozbek, O.Y.; 0000-0001-9580-7656; 30262412Background: Inflammation and coagulation are closely linked events. Thrombin is the key enzyme in coagulation system and also has roles in inflammation. Objective: The aim of our study was to evaluate thrombin generation in children with mild asthma. Methods: Forty-two children with mild asthma and 49 healthy children were included in the study. All patients performed spirometry. Thrombin generation tests (TGT) were performed with a calibrated automated thrombogram (CAT) in children without asthma exacerbation during the last six months. During CAT assay thrombogram curves were obtained. The area under the curve showed endogenous thrombin potentials and indicated the total amount of endogenous thrombin generated; the peak height showed the highest thrombin value, thrombin lag time and time to thrombin peak were measured. Results: Thrombin lag time was significantly longer in children with asthma (3.98 1.2 min) compared to those in the control group (3.29 +/- 0.6 min) (p < 0.01). Children with asthma also had longer thrombin tail time compared to the control group (19.5 +/- 8.9 min vs. 16.7 +/- 2.9 min, p= 0.02). Thrombin peak was inversely correlated with FEF 25-75 (r =-0.41, p < 0.01). Thrombin lag time was inversely correlated with FEF 25-75 (r=-0.39, p<0.01). Conclusion: Inflammation in mild asthma seems to disturb coagulation but this disturbance may not be so strong as to increase thrombin levels and may only affect the initiation phase of thrombin generation. (C) 2018 SEICAP. Published by Elsevier Espana, S.L.U. All rights reserved.Item Investigation of beta globin gene mutations in Syrian refugee patients with thalassemia major(2019) Cevirici, Hatice; Acipayram, Can; Yenilmez, Ebru Dundar; Belen, Fatma Burcu; Pekpak, Esra; Yaman, Yontem; Tuli, AbdullahObjectives: This study, detection of beta globin gene mutations in thalassemia major patients who migrated from Syria to Kahramanmaras region were planned. Materials and methods: The study included 35 Syrian national beta thalassemia major patients. Beta globin gene mutations were detected by ARMS (Amplification Refractory Mutation System) method, RFLP (Restriction Fragment Length Polymorphism) method and DNA sequence analysis. Codon 15, codon 9/10, codon 5 and codon 8 mutations, which we could not detect with other methods in our study, were detected by sequence analysis. Results: In beta thalassemia major patients, 16 types of mutations were detected, the most common being IVS-I-110 (n = 8). Other mutations are according to frequency order IVS-II-745 (n = 3), codon 44 (n = 3), codon 15 (n = 3), IVS-I-110/IVS-I-1 (n = 3), codon 5 (n = 2), IVS-I-1 (n = 2), codon 8/IVS-II-1 (n = 2), codon 44/codon 15 (n = 2), IVS-II-1 (n = 1), codon 39 (n = 1), IVS-I-6/codon 5 (n = 1), codon 9/10 (n = 1), IVS-I-110/codon 39 (n = 1), IVS-I-5/IVS-II-1 (n = 1), codon 39/IVS-II-745 (n = 1). Conclusions: According to the results of our study betathalassemia mutations in Syrian immigrant groups show heterogeneity and mutation types of mutation map is similar to Turkey. The conclusion is to prevent families to have a second patient child by genetic counseling.Item Boix-Ochoa (Partial Fundoplication) Treats Reflux, Even in Neurologically Impaired Patients. Can it Take the Title of "Gold Standard" from Total Fundoplication?(2019) Gezer, Hasan Ozkan; Ezer, Semire Serin; Temiz, Abdulkerim; Ince, Emine; Hicsonmez, Akgun; 0000-0002-4635-2613; 30887292; J-3197-2013Background In 4-5% of cases of gastroesophageal reflux disease (GERD), surgical treatment is required. The aim of the study was to evaluate the success of Boix-Ochoa antireflux surgery, which is considered more physiologic with a higher failure rate (need for reoperation) than Nissen fundoplication, which is believed to be the gold standard operation. Method In the 13 years from 2005 to 2018, the medical records of all children who underwent Boix-Ochoa in a single institution by pediatric surgeons were reviewed retrospectively. Results A total of 133 fundoplications were performed, of which patients were divided into four groups: neurologically impaired, structurally impaired, neurologically and structurally impaired, and neurologically and structurally normal; there were 64, 8, 34, and 27 patients in each group, respectively. Structural impairments included hiatal hernia and esophagus atresia, having previously had a gastrostomy and esophageal stenosis. The most common short-term complication was distal esophageal stenosis (13%), which caused vomiting and dysphagia, and was treated by dilatations. There were six (4.5%) recurrences of GER, one in the neurologically and structurally impaired group with a hiatal hernia and five in the structurally impaired group (three esophagus atresias, two caustic esophageal strictures). The mean follow-up period was 5.27 +/- 3.43 years. Neurological impairment did not affect the success rate. Conclusion Although there has not any literature demonstrating significant benefits of one procedure, we detected with this largest study in the pediatric literature about Boix-Ochoa fundoplication (more physiologic and easily performed) that it was successful (95%) in protecting reflux even in neurologically impaired patients (98%). We consider Boix-Ochoa (partial fundoplication) to be an alternative method to Nissen (complete fundoplication), and it can be done safely with a high success rate.Item Misdiagnosis of Asthma May Delay the Post Infectious Bronchiolitis Obliterans Diagnosis(2019) Onay, Zeynep Reyhan; Gursoy, Tugba Ramasli; Aslan, Ayse Tana; Eyubolgu, Tugba Sismanlar; Kibar, Busra Sultan; Pekcan, Sevgi; Hangu, Melih; Kose, Mehmet; Budakoglu, Isil Irem; Gokturk, BaharItem Do really parents brush their children's teeth better?(2019) Ozgul, B.M.; Sakaryali, D.; Senirkentli, G.B.; Tirali, R.E.; Cehreli, S.B.; 31850778Aim Plaque removal from first permanent molar teeth was evaluated when conventional and a new silicone tooth and gum brush was used. Also, the effectiveness of parents' brushing was compared with childrens'. Materials and methods Study design: This crossover clinical study was conducted with 9 children aged 5 to 7 years, with 18 mandibular first permanent molar teeth which were partially erupted. Four appointments were planned at one-week intervals and at every appointment, dental plaque on teeth was disclosed first. At their first appointment, the children were given a conventional toothbrush, and at their second appointment they were given a silicone tooth & gum brush . Then, at the third appointment, parents performed brushing with a conventional toothbrush, and then brushed with a silicone tooth & gum brush at the fourth appointment. Before and after brushing, photographs were taken for baseline and final plaque scores to determine Occlusal Plaque Index with Image Analysis Software Program. Statistics: Anova was used for comparison of groups with p <0.05 considered to be significant. Results There was statistically significant difference between baseline and final plaque scores among all of the groups (p<0.05) but, there was not statistically significant difference between the groups (p>0.05). Conclusions Children under the age of nine are usually believed to lack the developmental skills needed to brush their own teeth, and as a result, the silicone tooth & gum brush might be recommended instead of brushing with parents.Item Prevention of Helicobacter pylori infection in childhood(2014) Yucel, Oya; 25132751Helicobacter pylori (H. pylori) infection is one of the most common infections worldwide. Although infection rates are falling in the developed and developing countries, H. pylori is still widespread in the world. This article has reviewed the important publications on H. pylori in childhood with a focus on its evolving transmission route and the source of infection and preventive strategies in childhood, PubMed was searched up to identify eligible studies. Relevant publications were searched using the following. (C) 2014 Baishideng Publishing Group Inc. All rights reserved.Item Ophthalmologic Findings in Children with Leukemia: A Single-Center Study(2016) Orhan, Betul; Malbora, Baris; Bayar, Sezin Akca; Avci, Zekai; Alioglu, Bulent; Ozbek, Namik; 27800262Objectives: Ophthalmologic disease in patients with acute leukemia occurs due to primary leukemic infiltration (involvement), or secondary to the disease and its treatment. In recent years the life expectancy of acute leukemia patients has increased with the advent of modern therapies. The present study aimed to determine the incidence of ocular manifestations in children with acute leukemia. Materials and Methods: The study included 120 patients diagnosed with acute leukemia at Baskent University Hospital, Pediatric Hematology Department between 1995 and 2010. All the patients were examined by an ophthalmologist via direct and indirect ophthalmoscopy. Results: Among the patients, 83 (69.2%) were diagnosed with acute lymphoblastic leukemia, 35 (29.1%) with acute myeloblastic leukemia, and 2 (1.7%) with mixed-lineage leukemia. In all, 58 ophthalmic manifestations were noted in 41 patients (34.2%). In our patients, 12 ophthalmologic involvements were present at admission and 46 ocular findings occurred during follow-up. The incidence of these manifestations increased with age. Conclusion: Ophthalmologic manifestations were not correlated with gender, hematological parameters at disease onset, type of leukemia, or the frequency of relapse and survival. To more clearly determine the effect of ophthalmologic manifestations on the prognosis of leukemia, larger scale and multi-center studies are needed.Item Spleen Salvaging Treatment Approaches in Non-parasitic Splenic Cysts in Childhood(2016) Gezer, Hasan Ozkan; Oguzkurt, Pelin; Temiz, Abdulkerim; Ince, Emine; Ezer, Semire Serin; Kocer, Nazim Emrah; Demir, Senay; Hicsonmez, Akgün; 27574347The aim of this study was to evaluate our experience with primary non-parasitic splenic cysts (NPSC) which are relatively rare in children and consist almost exclusively of single case reports or small case series in the literature. The medical records of all patients who presented to our clinic with NPSC between 2005 and 2015 were evaluated retrospectively. There were 22 children whose ages ranged from 2 months to 14 years (mean 9.2 +/- 4.7 years). The size of the cysts was in the range of 5 to 200 mm (mean 55.4 +/- 48.2 mm). Ten patients underwent surgery for splenic cysts. Partial splenectomy (n = 2), total cyst excision (either open n = 4 or laparoscopically n = 1), and total splenectomy (n = 3) were performed. The non-operated patients were asymptomatic and followed with ultrasound (US). The follow-up period in non-operated patients ranged from 6 months to 5 years (mean 2.27 +/- 1.29 years). Complete regression was observed in four (33 %) non-operated patients. The regressed cyst measurements were 10, 16, 30, and 40 mm, respectively. Approximately half of the NPSC is diagnosed incidentally. Small (< 5 cm) asymptomatic cysts should be under regular follow-up with US/physical examination for regression. If surgery is required, we prefer open cyst excision as it gives excellent results and preserves splenic immune function.