Publications by authors named "Selim Gokce"

Article Synopsis
  • Carbamoyl phosphate synthetase 1 (CPS-1) deficiency is a rare urea cycle disorder affecting approximately 1 in 150,000-200,000 newborns, often causing severe hyperammonemia shortly after protein intake, leading to high mortality rates in early-onset cases.
  • A case study of a newborn male with elevated ammonia levels due to CPS-1 deficiency shows he received urgent treatments, including dextrose infusion, ammonia-scavenging therapy, peritoneal dialysis, and ultimately, a liver transplant from his father at six months of age.
  • The study highlights the potential benefits of liver transplantation in CPS-1 deficiency cases and suggests that carglumic acid could improve long-term
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Article Synopsis
  • - The study explored the link between FMF mutations and inflammatory bowel disease (IBD) in children, examining 597 pediatric patients with conditions like ulcerative colitis (UC) and Crohn's disease (CD).
  • - Results revealed that 41.9% of patients had FMF mutations, with E148Q and M694V being the most common mutations associated with different types of IBD, and differences in disease characteristics were noted based on mutation types.
  • - The findings suggested that while FMF mutations appeared relevant in UC (showing lower disease activity scores), they did not significantly affect the inflammatory response or clinical outcomes in patients with IBD overall, particularly those with CD.
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Background: Autoimmune hepatitis (AIH) is characterized by increased immunoglobulin G (IgG) levels, the presence of autoantibodies, and various degrees of lymphocyte predominant inflammation and fibrosis histologically. Immunosuppressive therapy induces remission in approximately 80% of those affected. However, liver transplantation is indicated in patients with acute liver failure with encephalopathy at presentation.

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Background: Kaposi`s sarcoma (KS) is a complication of immunosuppressive therapy for transplant recipients. Unlike adult recipients, KS in pediatric organ transplantation is quite rare. Treatment is usually withdrawal of immunosuppression; non-responders often receive chemotherapy.

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Background: This study aims to evaluate the children with chronic cough and to analyze their etiological factors according to the age groups.

Method: Five hundred sixty-three children with chronic cough were included. The last diagnosis were established and were also emphasized according to the age groups.

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Background/aims: This study aimed to understand the role of non-alcoholic fatty liver disease (NAFLD) in increasing the risk of atherosclerosis in obese pediatric patients.

Materials And Methods: The study included 109 obese children (age, 9-15 years) and a control group comprising 44 healthy age- and gender-matched children with normal weight. NAFLD was diagnosed using conventional ultrasound (US) examination.

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Gastrointestinal hemorrhage in children is a critical condition that demands quick and effective management. The differential diagnosis of gastrointestinal hemorrhage is wide. Heterotopic pancreas is a rare congenital anomaly and usually discovered incidentally.

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Background: Cirrhotic cardiomyopathy (CCMP) is a functional disorder characterized by electrophysiological disturbances, and diastolic and/or systolic dysfunction in patients with liver disease. This disorder is a well-defined entity in adults, but pediatric data are limited. The aim of the study was to determine the incidence, features, and risk factors of CCMP in children with portal hypertension (PHT).

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Background: The aim of this study was to analyze and compare the epidemiological and presenting features, clinical patterns, and complications of celiac disease (CD) in children.

Methods: The clinical charts of children with CD were retrospectively analyzed. Data for children who presented during the first time period (January 2005-October 2008; group 1) were compared to those of children who presented during the second time period (November 2008-April 2012; group 2).

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Background/aims: To evaluate children with gallstone in respect to demographic features, type of presentation, predisposing risk factors, laboratory features, complications, and outcome.

Materials And Methods: Overall, 124 children with sonographically diagnosed gallstone were stratified into group 1 (symptomatic) and group 2 (asymptomatic). The data on demographic features, predisposing risk factors, laboratory features, complications, and outcome were collected from medical charts and compared by using convenient statistical methods.

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Objective: Oxidative stress has been reported to be involved in the pathogenesis of metabolic disorders related with obesity. The aim of the study was to investigate the association of oxidative stress and paraoxonase activities with non-alcoholic fatty liver disease (NAFLD) as well as metabolic syndrome.

Materials And Methods: A total of 109 obese children and adolescents and 44 healthy and lean control subjects were enrolled in the study.

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Objective: We aimed to determine the association of thyroid functions with the components of metabolic syndrome (MS) and non-alcoholic fatty liver disease (NAFLD) in pediatric obese patients.

Methods: The study included 109 obese children (aged 9-15 years) and a control group of 44 healthy age and gender-matched children of normal weight. NAFLD was diagnosed by conventional ultrasound examination.

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Background/aims: To determine the underlying causes and short-term prognosis of patients with conjugated hyperbilirubinemia in a tertiary neonatal intensive care units.

Materials And Methods: We retrospectively analyzed the etiology, course, and shortterm prognosis of conjugated hyperbilirubinemia observed in newborn infants in a tertiary neonatal intensive care units.

Results: Of a total of 104 infants with conjugated hyperbilirubinemia (2.

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Unlabelled: Hemophagocytic lymphohistiocytosis (HLH) is a rare life-threatening condition. Uncontrolled proliferation of activated lymphocytes secreting high amounts of inflammatory cytokines seems to be the main pathogenesis. The diagnosis of HLH can often be difficult.

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We aimed to measure the psychosocial status and quality of life in mothers of babies with infantile colic (IC). Mothers and their newborns were stratified into Group 1 (colicky infant-mother dyad [n: 39]) and Group 2 (non-colicky infant-mother dyad [n: 39]). Maternal symptoms of depression and anxiety were assessed using the Beck Depression Inventory (BDI) and State-Trait Anxiety Inventory (STAI), respectively.

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To investigate the relationship between nonalcoholic fatty liver disease and cardiovascular risk factors and increased risk of atherosclerosis in obese children. The study included 80 consecutive obese children who were stratified into group 1 [ultrasonographically diagnosed with NAFLD (n = 50)] and group 2 [not diagnosed with NAFLD (n = 30)]. The control group included 30 healthy children.

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Neonatal cholestasis is a rare presenting feature of cystic fibrosis which usually cannot be differentiated from other types of cholestasis. Herein, the authors report a 63 d-old boy with cystic fibrosis presenting with neonatal cholestasis mimicking biliary atresia. A new mutation in CFTR gene resulting in severe phenotype has been described.

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