Browsing by Author "Appak Y.Ç."

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    Triple A syndrome with clinical and genetic findings: A case report; [Klinik ve genetik bulgulari ile triple A sendromu: Bir vaka takdimi]
    (Cocuk Sagligi ve Hastaliklan Dergisi, 2014) Appak Y.Ç.; Çam F.S.; Şahin G.E.; Uluçay S.; Huebner A.; Kasirga E.
    Triple A syndrome (Allgrove syndrome) is a rare autosomal recessive disease characterized by achalasia, alacrima, adrenal insufficiency, and progressive neurological syndrome. This syndrome is caused by mutations in the achalasia-addisonianism-alacrima syndrome (AAAS) gene in the chromosome 12q13 region. We present a nine-year-old boy who had vomiting and progressive dysphagia since six years of age. Achalasia was determined with barium esophagography and esophagus manometric investigation. He had positive Schirmer test (<5 mm) and bilateral optic disc atrophy. The patient's serum cortisol levels were normal and cortisol response was low with ACTH stimulation test. Genetic analysis revealed a homozygous mutation (c.1066-1067delCT) in exon 11 of the AAAS gene, and her younger brother and sister were heterozygous carriers of this mutation. For treatment of achalasia, calcium channel blocker therapy was started, and botulinum toxin was applied to the distal esophagus. The patient's vomiting decreased but continued; his symptoms resolved after the implementation balloon dilation of the esophagus. © 2014, Cocuk Sagligi ve Hastaliklan Dergisi. All rights reserved.
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    Portal hypertension in childhood: Two centers experience and literature review; [Çocukluk çağında portal hipertansiyon: İki merkez deneyimi ve literatür incelemesi]
    (Galenos Yayincilik,, 2015) Appak Y.Ç.; Ünal F.; Kasırga E.
    Introduction: In this study, our objective is to make an assessment of the patients whom we have followed with portal hypertension. Materials and Methods: A total of 21 portal hypertension patients, followed between 2005 and 2013, were evaluated retrospectively with regards to demographic data, complaints leading to their application and treatments they received. Results: The average age of the patients was 9.3±5.3, 38.1% of the patients were female and 61.9% were male. Of the patients, 28.6% received portal hypertension diagnosis due to gastrointestinal system bleeding, 14.3% due to abdominal distention, 28.6% due to splenomegaly, 9.5% due to hepatosplenomegaly and 19% due to elevated liver function tests. The average age of receiving the diagnosis was 6.8±4.7 and duration of the follow-up was 3.4±1.7 years. Of the patients, 85.7% had esophageal varices according to the upper gastrointestinal system endoscopy and beta-blocker therapy was applied to all patients except for one. The follow-up of the patients revealed that 52.4% of them had gastrointestinal bleeding secondary to portal hypertension. The patients received sclerotherapy (4.8%), band ligation (19%), band ligation and sclerotherapy together (23.8%). One patient received Rex Shunt and two patients had distal splenorenal shunt. Conclusions: Variceal hemorrhage is the most important complication observed in the follow-up of the portal hypertension. Portal hypertension complications can be prevented with early diagnosis as a result of taking medical, endoscopic and surgical measures. © The Journal of Current Pediatrics, published by Galenos Publishing.
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    Relationship between duodenal histopathology and strong positive tissue transglutaminase antibodies in children with celiac disease; [Çölyak hastası çocuklarda duodenal histopatoloji ve güçlü pozitif doku transglutaminaz antikorları arasındaki ilişki]
    (Galenos Yayincilik,, 2015) Doğan G.; Ayhan S.; Yılmaz B.; Appak Y.Ç.; Dündar P.E.; Ecemiş T.; Ünal F.; Kasırga E.
    Introduction: In celiac disease (CD) strong positive tissue transglutaminase antibody (TTGA) levels (≥100 U/A) have been shown to almost always indicate villous atrophy. The aim of this study is to determine the sufficiency of ≥100 U/A Ig A type TTGA levels for diagnosis of CD. Materials and Methods: Results from duodenum biopsy performed due to positive TTGA in 197 children were retrospectively examined. IgA TTGA levels had a positive value of >18 U/A. Increases of 5 times or more than this threshold value (≥100 U/A) are accepted as strong positivity. CD diagnosis was made according to ESPGHAN criteria. A modified Marsh stage ≥2 was accepted as significant for CD. Results: Of the cases, 129 were female (65.5%) and 68 were male (34.5%). Duodenum histopathology was compatible with Marsh 0 for 1 case (0.5%), Marsh 2 for 17 cases (8.6%), Marsh 3a for 41 (20.8%), Marsh 3b for 81 (41.4%) and Marsh 3c for 57 (28.9%). The TTGA levels of 64 of the 197 cases (32.5%) were ≥100 U/A. In cases with strong positivity for TTGA the duodenum histology was compatible with Marsh 3 (villous atrophy) for 63 and Marsh 0 (normal histology) for 1 case (type 1 diabetic and asymptomatic for CD). For Marsh 3c TTGA levels ≥100 U/A had a sensitivity of 85.96% (95% CI: 74.2-93.7%), specificity of 89.29% (95% CI: 82.9-93.8%), positive predictive value of 76.56% (95% CI: 64.3-86.2%) and negative predictive value of 93.9% (95% CI: 88.4- 97.3%). Conclusions: This study showed that positive IgA TTGA levels (≥100 U/A) were almost always accompanied by Marsh 3 duodenal histopathological changes. Diagnosis of CD without biopsy may miss certain accompanying diseases, however in some cases with advanced examinations CD may be diagnosed by pediatric gastroenterology specialists without endoscopy. © The Journal of Current Pediatrics, published by Galenos Publishing.
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    Neonatal Cholestasis as Initial Presentation of Portosystemic Shunt: A Case Report
    (Elsevier B.V., 2016) Doğan G.; Düzgün F.; Tarhan S.; Appak Y.Ç.; Kasırga E.
    Congenital intrahepatic portosystemic shunts are rare in children. Portosystemic venous malformations are characterized by extreme clinical variability. We report a full-term 33-day-old male infant presenting with neonatal jaundice. On physical examination, he had generalized icterus and the liver was palpable 3.5 cm below the right costal margin. He had no other symptoms. Laboratory tests showed AST 632 U/L, ALT 198 U/L, total bilirubin 12.1 mg/dL, conjugated bilirubin 10.2 mg/dL, alkaline phosphatase 753 U/L, GGT 47 U/L and glucose 67 U/L. Colour Doppler ultrasonography showed the left portal vein was more dilated than the right portal branch and communication with dilated left hepatic vein. There was no evidence of portal hypertension, heart failure, hepatopulmonary syndrome and encephalopathy during his hospital stay, so he was discharged from the pediatric department and his parents advised to attend monthly follow-up. Congenital portosystemic shunts are rarely observed in the childhood period.1 Depending on anatomic characteristics they may be intrahepatic or extrahepatic.2 Intrahepatic portosystemic shunts (PSS) are observed between the portal vein and hepatic vein or vena cava inferior.3,4 Small shunts may close themselves before the age of 2 years.5 With the increase in use of imaging methods, diagnosing PSS has become easier, with an increase in the number of cases reported.6 Neonatal cholestatis is a frequent complication of PSS.1 We present a case presenting with neonatal cholestasis diagnosed with congenital intrahepatic PSS. © 2016
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    Coexistence of Helicobacter pylori and Intestinal Parasitosis in Children with Chronic Abdominal Pain
    (2016) Gökşen B.; Appak Y.Ç.; Girginkardeşler N.; Ecemiş T.; Kasırga E.
    OBJECTIVE: The aim of this study was to determine the incidence of coinfection with Helicobacter pylori and intestinal parasitosis in children with chronic abdominal pain (CAP) and to investigate the common risk factors in the development of both infections.; METHODS: Ninety patients with CAP were enrolled in this study. Blood samples of each case were screened for human preformed IgG (HpIgG) antibodies, and stool samples were tested for HpSA and also examined for intestinal parasites by direct wet-mount, formalin-ethyl-acetate concentration, and Trichrome staining procedures. Cellophane tape test was used for Enterobius vermicularis. Children tested positive for HpIgG and/or HpSA were accepted as H. pylori positive. The risk factors were compared with a questionnaire.; RESULTS: The incidence of Giardia intestinalis was 14.8% in the H. pylori-positive group and was found to be statistically higher than that in the H. pylori-negative group (1.6%). The positivity rates of H. pylori were found to be statistically higher in children attending school and using drinking water from taps. The incidences of parasitosis were significantly higher in children with a low maternal education level and with a history of parasitosis treatment in the family.; CONCLUSION: The most common etiologies of CAP in children are H. pylori infection and intestinal parasitosis. İmprovement of hygienic conditions would be beneficial in preventing both infections.