Turkish Translation, Validation, and Reliability Analysis of Pediatric Eosinophilic Esophagitis Symptom Severity Module Version 2.0.

Unlabelled: The Paediatric Eosinophilic Esophagitis Symptom Severity Modules Version 2.0 (T-PEESv2.0) was developed in English as a valid, reliable questionnaire for follow up.

Evolution and long-term outcomes of combined immunodeficiency due to CARMIL2 deficiency.

Background: Biallelic loss-of-function mutations in CARMIL2 cause combined immunodeficiency associated with dermatitis, inflammatory bowel disease (IBD), and EBV-related smooth muscle tumors. Clinical and immunological characterizations of the disease with long-term follow-up and treatment options have not been previously reported in large cohorts. We sought to determine the clinical and immunological features of CARMIL2 deficiency and long-term efficacy of treatment in controlling different disease manifestations.

The HLA groups and their relationship with clinical features in Turkish children and adolescents with celiac disease.

Background: We aimed to investigate the relationship between human leukocyte antigens (HLA)-groups and clinical features, and degree of intestinal injury in children with celiac disease (CD).

Methods: Study group included 73 (50 females, 68.5%) children with CD.

Graft-versus-host disease in a child with neuroblastoma after autologous stem cell transplantation.

In the pediatric population, hematopoietic stem cell transplantation (HSCT) is used to treat a wide variety of diseases, both malignant and nonmalignant. For many of these diseases, HSCT is a well-established treatment. Acute graft-versus-host disease (GVHD) continues to be a leading cause of morbidity and mortality after allogeneic hematopoietic stem cell transplantation.

Transarterial and Transhepatic Endovascular Intervention to Alleviate Portal Hypertension Secondary to Arterioportal Fistula in a Trisomy 21 Infant.

Individuals with trisomy 21 have an 80% risk reduction of vascular anomalies compared with general population. However, an association of trisomy 21 and portal vascular and arteriovenous anomalies has been defined in the literature. The primary hemodynamic abnormality in portal hypertension is increased resistance to portal blood flow.

Empiric treatment of children with gastroesophageal reflux-like symptoms: Effect of proton pump inhibitors.

Gastroesophageal reflux disease is an important cause of morbidity in childhood. Although various diagnostic methods are available, short course of empiric treatment with a proton pump inhibitor is widely used in adults as a diagnostic test. Data about empiric treatment is scarce in children.

Is compliance with gluten-free diet sufficient? Diet composition of celiac patients.

This study was planned to investigate the amount and content of foods consumed by child patients with celiac disease on a long-term gluten-free diet. Children aged 3-18 years who were diagnosed with celiac disease according to ESPGHAN criteria and were compliant to the gluten-free diet for at least one year were included. Age and gender matched healthy children were included as the control group.

Prevalence of irritable bowel syndrome in adolescents in Turkey: effects of gender, lifestyle and psychological factors.

Scarce data exist concerning the prevalence of irritable bowel syndrome in adolescence. Changes in lifestyle, presence of stressors and psychological vulnerability during this stage of life place adolescents in the risk group for irritable bowel syndrome. The aim of this study is to determine the prevalence of irritable bowel syndrome in adolescents who are about to begin their university studies and to identify lifestyle and psychological factors related to irritable bowel syndrome.

Effects of Gluten-Free Diet on Quality of Life and Depression in Children With Celiac Disease.

Objectives: The aim of this study was to investigate the level of depression and quality of life in children with celiac disease (CD). In addition, it aimed to examine the relations of depression level and life quality with adherence to a gluten-free diet (GFD).

Methods: Twenty-five children with CD and 25 healthy controls were included.

Ornidazole-based sequential therapy is not effective in Helicobacter pylori eradication in children.

Background/aims: Sequential therapy is one of the recent answers given to the problem of increasing antibiotic resistance and decreasing eradication rates of Helicobacter pylori infection. The aim of this study is to compare the ornidazole-based sequentialtherapy with the standard triple therapy in Helicobacter pylori eradication.

Materials And Methods: Children aged 4-18 years diagnosed with Helicobacter pylori infection based on histology and at least one of 13 C urea breath test and rapid urease test positivity were included in the study.

Fecal calprotectin concentration is increased in children with celiac disease: relation with histopathological findings.

Background/aims: The aim of this study was to compare the fecal calprotectin concentration in children with newly diagnosed celiac disease, children with celiac disease strictly adhering to a gluten-free diet and healthy controls. We also tried to correlate the fecal calprotectin concentration with the clinical presentation, degree of neutrophilic infiltration and the severity of histopathological injury (Marsh grade) in the small bowel mucosa.

Material And Methods: The study included three groups: children with untreated celiac disease, children with treated celiac disease, and healthy controls.

Outcome of enzyme replacement therapy in Turkish patients with Gaucher disease: does late intervention affect the response?

We aimed to evaluate the outcome of enzyme replacement therapy (ERT) in Turkish Gaucher patients since it first became available in our country. Eleven patients with type I and one patient with type III Gaucher disease (GD) received therapy as 30-60 U/kg and 120 U/kg every two weeks, respectively, for at least six months, starting a mean period of 4.2 years after the diagnosis.

Evaluation of lansoprazole as a probe for assessing cytochrome P450 2C19 activity and genotype-phenotype correlation in childhood.

Purpose: Lansoprazole, a cytochrome P450 2C19 (CYP2C19) substrate, has been widely used in children to manage acid-related diseases. CYP2C19 exhibits marked genetic polymorphisms, and distribution of these polymorphisms varies among different ethnic groups. There is limited data regarding the use of probe drugs for determining CYP2C19 activity in children.

Obesity in adolescents with celiac disease: two adolescents and two different presentations.

Celiac disease (CD) usually presents with diarrhea and growth retardation in childhood. Obesity is one of the paradoxical conditions in children with CD. We present two adolescents with CD and obesity.

Three cases of a rare disease, congenital chloride diarrhea, summons up the variation in the clinical course and significance of early diagnosis and adequate treatment in the prevention of intellectual disability.

Congenital chloride diarrhea (CLD) (OMIM #214700) is a rare, autosomal recessive disease that is characterized by increased chloride loss in stool. As a result of electrolyte loss, surviving patients might have some complications, one of them being mental retardation. Here, we present three new Turkish patients with new mutations in the SLC26A3 gene.

Responsiveness of children with celiac disease to different hepatitis B vaccination protocols.

Background/aims: We aimed to compare the response rates to hepatitis B virus vaccination in the first year of life, using two different immunization protocols, in children with celiac disease.

Methods: Study Group 1 included patients with celiac disease who received 10 μg of hepatitis B vaccine intramuscularly at birth (0), 2 and 9-12 months of life. Group 2 included those who received hepatitis B vaccine at 0, 1 and 6 months of life.

Internal iliac vein thrombosis in pediatric Crohn's disease.

Thromboembolic events are one of the important extraintestinal manifestations of inflammatory bowel diseases that are associated with considerable morbidity and mortality. Iliac vein thrombosis is rarely reported in inflammatory bowel diseases. A 9.

Autoimmune hemolytic anemia and giant cell hepatitis: Report of three infants.

Giant cell hepatitis associated with direct Coombs' test-positive hemolytic anemia is a rare condition of childhood and the pathogenesis remains unclear. An autoimmune activation and loss of self-tolerance in these patients may be the underlying pathology related to the response of some of the patients to immunosuppressive treatment. Herein, we report the clinical presentation and course of three consecutive patients with this rare condition.

Double heterotopic pancreas and Meckel's diverticulum in a child: do they have a common origin?

Heterotopic pancreatic tissue consists of normally differentiated pancreatic tissue without a real anatomic and vascular connection to the pancreas, whereas Meckel's diverticulum is one of the most important cause of lower gastrointestinal bleeding in children. Although heterotopic pancreatic tissue is related to various gastrointestinal diseases/malformations in both humans and animals, it is rarely associated with Meckel's diverticulum. Herein, we report a five-year old boy who presented with melena and hematochezia, which were discovered to be the result of Meckel's diverticulum.

The presentation of celiac disease in 220 Turkish children.

The aim of this study was to investigate the presentation pattern of newly diagnosed celiac disease (CD) in Turkish children in the last eight years. Two hundred twenty patients with newly diagnosed CD were included. The medical records of all the patients between January 2000 and October 2008 were reviewed.

[Different clinical form of tuberculosis in childhood: three cases].

Childhood tuberculosis (Tbc) is an important cause of morbidity and mortality and the highest case burden, an estimated 95% of all Tbc cases is found in developing countries. Although childhood Tbc contributes to only 3-6% of the total caseload in industrialized countries, it makes up a large proportion (15-20%) of all Tbc cases in developing countries. The diagnosis of tuberculosis in children is quite difficult and seldom confirmed and is based mainly on clinical signs, symptoms, history of contact with adult and special investigations.