Neutrophil-to-Lymphocyte Ratio: An Easy Marker for the Diagnosis and Monitoring of Inflammatory Bowel Disease in Children.

BACKGROUND: The neutrophil-to-lymphocyte ratio (NLR) is a simple and inexpensive inflammation biomarker that reflects systemic inflammation based on complete blood count values. AIMS: In our study, we aimed to compare the NLR values in pediatric inflammatory bowel disease (IBD) and in healthy controls, and to define NLR levels in children with IBD during diagnosis, active disease, and remission. METHODS: NLR values of patients with IBD at diagnosis, remission, and active disease of the patients were recorded retrospectively. Age- and sex-matched healthy subjects enrolled as the control group. RESULTS: Sixty-three patients with IBD and 92 healthy subjects as the control group enrolled. The mean age of the patients with IBD was 9.31 ± 5.24 years, and 57.1% were males. The mean NLR values of the patients with IBD at diagnosis and remission were significantly higher than that of healthy controls (p < 0.001). The mean NLR values of the patients at diagnosis and active disease were significantly higher than that of during remission (p < 0.001). The best cutoff of NLR for prediction of diagnosis of IBD in children was 1.46 with a sensitivity of 86.2% and specificity of 93.5%. There was no significant difference regarding NLR between patients with IBD with and without associated diseases. At diagnosis the mean NLR level of patients with Crohn's disease was significantly higher than that of ulcerative colitis (p = 0.019). CONCLUSIONS: It was shown for the first time that NLR levels were significantly increased at diagnosis and active disease of childhood IBD, compared to the remission period. We believe that NLR can be a non-invasive inflammatory biomarker that should be used in the initial evaluation and follow-up of the disease activity in children.

Nutritional status of children with primary immunodeficiency: A single center experience.

BACKGROUND: Nutritional status in primary immunodeficiencies (PID) is a major factor influencing immune defense. We aimed to evaluate the nutritional status of patients with PID. METHODS: Demographic findings and anthropometric measurements of 104 patients were recorded for this cross-sectional study. RESULTS: Combined immunodeficiencies (n = 49), predominantly antibody deficiencies (n = 28) and phagocytic system disorders (n = 17), were the major disease groups. In total, 44 (42.3%) patients had at least one anthropometric measurement below -2 standard deviations. Chronic, acute, and mixed-type malnutrition were detected in 18.3%, 16.3%, and 7.7% of the patients, respectively. No significant difference was detected among groups regarding anthropometric measurements however higher malnutrition rates were observed in 'combined immune deficiency less profound than severe combined immuno deficiency' (52%), chronic granulomatous disease (66.6%), and X-linked agammaglobulinemia (50%) patients. Severe malnutrition was present in 22 (21.2%) of the patients, although it was not significant. It was more common in the phagocytic system disorder group. All patients in the severe combined immunodeficiency group had undergone hematopoietic stem cell transplantation and 50% of them had malnutrition. There was also no significant difference regarding age, sex, anthropometric indexes (Weight for age, lenght/height for age body mass index Z-scores), malnutrition types, and prevalence of malnutrition among three major disease groups. Only the hospitalization history inversely related to body mass index and weight for age Z-scores (P < 0.0001). In patients with malnutrition, daily caloric intake was at least 20% or more below the requirement. CONCLUSIONS: Regardless of the type of immunodeficiency, nutritional status was poor in PID and hospitalization is the most important determinant of nutritional status. Even after hematopoietic stem cell transplantation, nutritional support should be continued.

Clinical and histopathological features of immunoglobulin G4-associated autoimmune hepatitis in children.

BACKGROUND AND AIM: We aimed to examine the frequency and the characteristics of immunoglobulin G4 (IgG4)-associated autoimmune hepatitis among pediatric patients with autoimmune hepatitis. METHODS: Immunostaining for IgG and IgG4 was performed in liver biopsies of 40 pediatric patients with autoimmune hepatitis. The patients with more than 10 IgG4-positive plasma cells/high-power field were defined as IgG4-associated autoimmune hepatitis. Clinic, laboratory, and histopathological results were compared between groups. RESULTS: Among the 40 pediatric patients, 34 patients were type 1 and 6 patients were type 2 autoimmune hepatitis. Six patients (15%), four of the type 1 and two of the type 2 autoimmune hepatitis patients, were diagnosed with IgG4-associated autoimmune hepatitis. Clinical, laboratory, and histopathological data were initially similar in both forms. There was a positive correlation between IgG4-positive plasma cell count and degree of portal (r: 0.406, P: 0.009) and lobular inflammation (r: 0.37, P: 0.019), grade of interface hepatitis (r: 0.33, P: 0.03), and fibrosis (r: 0.318, P: 0.046). Time required for normalization of liver transaminases and serum IgG level was significantly shorter in IgG4-associated autoimmune hepatitis (3.3 ± 0.5 vs 6.6 ± 3.5 for alanine aminotransferase, 3.7 ± 0.8 vs 6.7 ± 1.2 for aspartate aminotransferase, 4.3 ± 1.2 vs 7.1 ± 2.7 for gamma-glutamyl transpeptidase, and 7.2 ± 3.1 vs 12.8 ± 4.5 for IgG). CONCLUSIONS: Immunoglobulin G4-associated autoimmune hepatitis can be found in pediatric age group and also in type 2 autoimmune hepatitis patients. As steroid response may be better in IgG4-associated autoimmune hepatitis, biopsy specimens should be evaluated for this entity at diagnosis.

Risk factors associated with clinically significant gastrointestinal bleeding in pediatric ED.

INTRODUCTION: Gastrointestinal bleeding is a common problem in pediatric emergency department (PED). Some of these patients can lose significant amount of blood which may lead to shock. The aim of this study is to determine the risk factors predicting clinically significant gastrointestinal (GIS) bleeding in patients presenting to PED. METHODS: This study was performed prospectively from January 1st 2013 to December 31th 2013 in patients with upper or lower GIS bleeding. Clinically significant GIS bleeding was defined as >2g/dL hemoglobin decrease at any time during observation in PED, need for erythrocyte transfusion or need for rapid endoscopic evaluation. RESULTS: 105 patients were enrolled, 81 of which were eligible for the study. Twenty two patients (26,8%) had clinically significant GIS bleeding. These patients have significantly more commonly have upper GI bleeding and symptoms of melena, pallor and tachycardia. Initial laboratory findings revealed lower hemoglobin, RBC and albumin levels with higher WBC and BUN levels. They need significantly more nasogastric tube placement and PPI and H2 blocker treatment. Final diagnosis included more gastritis and peptic ulcers. These patients have less hematochezia, less lower gastrointestinal bleeding and less commonly diagnosed as acute gastroenteritis or Mallory Weiss tear as a final diagnosis. CONCLUSIONS: Pediatric emergency physicians should be aware of clinical and laboratory parameters of patients with clinically significant GIS bleeding to predict which patients are under risk of life threatening blood loss. Patients who have melena, pallor, tachycardia, anemia and uremia at presentation are more prone to have significant GIS bleeding.

Detection of parasites in children with chronic diarrhea.

The aim of this study was to investigate the frequency of intestinal parasites in patients with chronic diarrhea and clarify the importance of these parasitic pathogens in such cases. A total of 60 pediatric patients with chronic diarrhea between June 2012 and October 2014 were enrolled in the study. Out of 60 stool samples, five were positive for Giardia lamblia, two, Dientamoeba fragilis, and one, Blastocystis hominis. One stool sample was positive for Entamoeba hartmanni and B. hominis, another one was positive for G. lamblia and B. hominis, another, G. lamblia and E. hartmanni and one sample was positive for Enterobius vermicularis, D. fragilis and B. hominis together. Parasitic infection, which decreases quality of life and increases susceptibility to other infections, should not be neglected, particularly in patients with chronic diarrhea. Accurate diagnosis decreases morbidity and mortality in patients with parasite infection.

Familial psychological factors are associated with encopresis.

BACKGROUND: The aim of this study was to assess maternal psychiatric symptoms, family functioning and parenting styles in children with encopresis. METHODS: Forty-one children with encopresis were compared to 29 children without any psychiatric disorder. RESULTS: Higher maternal psychiatric symptoms were found in children with encopresis. The general family functioning and strictness/supervision in parenting were significant predictors of encopresis. CONCLUSIONS: Family functioning may be screened in children with encopresis, especially when standard interventions have had limited success. Identification and treatment of familial factors may enhance the treatment efficacy in encopresis.

Evaluation of non-infectious complications in children receiving parenteral nutrition.

BACKGROUND: Parenteral nutrition may lead to inevitable complications. AIMS: To determine the indications, metabolic and mechanical complications of parenteral nutrition in children. METHODS: One hundred fifty-eight children (91 males; 57.8%) who received 179 episodes of individualized parenteral nutrition for ≥ 5 days within 2 years were analyzed. Indications and duration of parenteral nutrition, effect on growth, and metabolic and central venous catheter-related non-infectious complications were evaluated. RESULTS: Parenteral nutrition was administered in 179 different episodes (109 males; 60.9%), and the median age during these episodes was 64.0 (14.0-129.0) months. The most common indications were hematological malignancies, gastrointestinal surgery, and hematopoietic stem cell transplantation. Most of the electrolyte imbalances occurred in the first 3 days. Hypophosphatemia (44.7%), hypomagnesemia (43.0%), hypokalemia (43.0%), hyponatremia (40.8%), and hypertriglyceridemia (38.2%) were the most common metabolic complications. Liver transaminases elevated in 32/145 (22.1%) episodes and bilirubin in 30/149 (21.0%). Ursodeoxycholic acid treatment was added to 25 patients with hypertransaminasemia and/or hyperbilirubinemia. Transaminase levels improved in 16 (64%) and bilirubin levels in 15 (60%) patients receiving ursodeoxycholic acid. Catheter thrombosis was seen in 4.5% of the episodes. The targeted energy could be given more efficiently via central catheters rather than peripheral venous accesses. Patients' bodyweights increased in 39.1% of the episodes. CONCLUSIONS: Close monitoring of electrolyte levels, especially in the first 3 days, is crucial to prevent complications of parenteral nutrition. When individualized PN preparations are used for metabolically unstable patients, it can be easier to maintain the blood glucose, lipids, and electrolyte levels within the normal range.

Is Prolonged Copper Restriction Needed in Pediatric Wilson's Disease?

BACKGROUND: Dietary copper restriction in Wilson's disease is recommended mostly for 1 year or until showing normal liver enzymes. Little is known about the effect of long-term copper restriction on copper and nutritional status in the body. The relationship between daily copper consumption and serum and urine copper parameters, liver enzymes, and dietary contents was investigated. METHODS: In this study, 32 pediatric Wilson's disease patients who had been on treatment at least for 12 months were included. Clinical features, liver enzymes, serum total copper concentrations, non-ceruloplasmin bound copper concentrations, adjusted copper concentrations, 24-hour urine copper excretions, and macro- and micronutrient consumptions were analyzed. RESULTS: In total, 27 patients reported following copper-restricted diets, while daily copper consumption was low only in 7 patients (21.9%). Total copper concentrations and non-ceruloplasmin-bound copper concentrations were low at 78.1% and 53.1%, respectively. All but one adjusted copper concentration were within normal limits. Total copper concentrations, adjusted copper concentration, and non-ceruloplasmin-bound copper concentrations correlated with each other but none correlated with urine copper excretions. Daily copper consumption was inversely correlated with total copper concentrations (P = .041, r = -0.363) but not correlated with non-cerulo plasmin-bound copper concentrations and adjusted copper concentrations. There was no relationship between liver enzymes and daily copper consumption and serum and urine copper parameters. High fat consumption with low fiber and vitamin B6 was more common in low daily copper consumption group (P = .033, P = .029, P = .007, respectively). CONCLUSIONS: Daily copper consumption may be the least effective or non-effective factor on liver enzymes in Wilson's disease. Prolonged copper restriction may result in unintentional dietary imbalance. Avoidance of undernutrition and high-fat meals, as well as enrichment of the meals with vitamin B6 and fiber, should be encouraged during copper-restricted diets.

Homozygous Missense Epithelial Cell Adhesion Molecule Variant in a Patient with Congenital Tufting Enteropathy and Literature Review.

Congenital diarrheal disorders (CDDs) with genetic etiology are uncommon hereditary intestinal diseases characterized by chronic, life-threatening, intractable watery diarrhea that starts in infancy. CDDs can be mechanistically divided into osmotic and secretory diarrhea. Congenital tufting enteropathy (CTE), also known as intestinal epithelial dysplasia, is a type of secretory CDD. CTE is a rare autosomal recessive enteropathy that presents with intractable neonatal-onset diarrhea, intestinal failure, severe malnutrition, and parenteral nutrition dependence. Villous atrophy of the intestinal epithelium, crypt hyperplasia, and irregularity of surface enterocytes are the specific pathological findings of CTE. The small intestine and occasionally the colonic mucosa include focal epithelial tufts. In 2008, Sivagnanam et al. discovered that mutations in the epithelial cell adhesion molecule (EpCAM, MIM# 185535) were the genetic cause of CTE (MIM# 613217). More than a hundred mutations have been reported to date. Furthermore, mutations in the serine peptidase inhibitor Kunitz type 2 (SPINT2, MIM# 605124) have been linked to syndromic CTE. In this study, we report the case of a 17-month-old male infant with congenital diarrhea. Despite extensive etiological workup, no etiology could be established before admission to our center. The patient died 15 hours after being admitted to our center in a metabolically decompensated state, probably due to a delay in admission and diagnosis. Molecular autopsy with exome sequencing revealed a previously reported homozygous missense variant, c.757G>A, in EpCAM, which was confirmed by histopathological examination.

Significance of intestinal alkaline phosphatase in predicting histological activity of pediatric inflammatory bowel disease.

BACKGROUND: Intestinal alkaline phosphatase (iAP) is an intestinal brush border enzyme that is one of the factors involved in the pathogenesis of inflammatory bowel disease (IBD). The aim of the study was to investigate the relationship between iAP enzyme and histological inflammatory activity in patients with IBD. METHODS: A total of 44 children were enrolled in this study including IBD patients (n=24; 12 Crohn`s disease [CD] and 12 ulcerative colitis [UC]) and controls (n=20). Anti-human iAP antibody stained ileocolonoscopic biopsy specimens were graded for the terminal ileum and each section of the colon. Hematoxylin-eosin stained sections were used to determine inflammatory activity. Histopathological findings were compared in pre- and post-treatment biopsies of each group and with the control group (CG). RESULTS: A low grade of iAP staining was detected in IBD patients compared to the CG (p=0.02). iAP was remarkably concentrated in the terminal ileum (TI) and especially in region 1, which involved the apical surface, brush border, and epithelial cells. A significant negative correlation was found between the grade of iAP staining and inflammatory activity both in pre- and post-treatment biopsies (p=0.02, p=0.008, respectively) in the terminal ileum of CD patients. Likewise, pre-treatment biopsies of UC and CD patients and biopsies of the CG were compared with each other according to the grade of iAP staining. There were significant negative correlations for CD patients compared to UC and the CG in region1 of TI, and regions 1 and 2 (lamina propria and goblet cells) of the colon (p= 0.015, p= 0.006, p < 0.001, respectively). CONCLUSIONS: As a histological marker, iAP can be of value in monitoring the histological activity of IBD, particularly in remarkable inflammation in the small intestine.

Cytokine profile in serum and gingival crevicular fluid of children with inflammatory bowel disease: A case-control study.

BACKGROUND: To evaluate the cytokine profile in gingival crevicular fluid (GCF) and serum of pediatric inflammatory bowel disease (IBD) patients and determine the cluster patterns of cytokines. METHODS: Fifty IBD patients and 21 systemically healthy children were enrolled in the study. The GCF samples were collected from the participants during periodontal examination and periodontal indices were recorded. Based on activity indexes and response to conventional treatment, patients with IBD were further categorized into subgroups as: remission, active disease, and treatment-resistant. Serum samples were obtained from IBD patients to determine serum levels of cytokines. The levels of pro- (interleukin (IL)-1ß, IL-12, IL-21, IL-22, IL-23, IL-17A, IL-17F) and anti-inflammatory (IL-4, IL-10) cytokines in serum and GCF were measured using Enzyme-linked Immunosorbent Assay (ELISA) kits. RESULTS: Among 50 IBD patients, 58% were in remission, 20% had active disease, and 22% were defined as treatment-resistant. The severity of gingival inflammation measured by the criteria of Löe had increasing trends in IBD patients with active disease and treatment resistance. GCF IL-1ß level was lower and GCF IL-4 and GCF IL-23 levels were higher in IBD patients compared to healthy controls. In the active disease group, more cytokine clusters occurred compared to the control group and other IBD subgroups, as explained by increased cytokine-cytokine interactions. CONCLUSIONS: Considering the increased complexity of cytokine interactions and the increased severity of gingival inflammation in patients with active disease, it can be concluded that disease activity might have an impact on gingival inflammation in pediatric patients with IBD.

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. Assessment of response included serial measurements of hematological and biochemical parameters and liver and spleen volumes. Symptoms and signs of bone disease, growth and severity scores were also evaluated. ERT in Turkish patients led to marked improvement in hematological parameters and organomegaly in the majority of them. Patients with growth failure demonstrated catch-up growth. Progression of bone disease was not observed except in two patients who experienced a delay of 15 and 8.6 years, respectively, between the diagnosis and the start of ERT.

Distinctive Features of Hepatic Steatosis in Children: Is It Primary or Secondary to Inborn Errors of Metabolism?

PURPOSE: The incidence of hepatic steatosis among children has been increasing; however, data distinguishing simple steatosis from a more complex disorder are lacking. METHODS: This study identified the etiologies resulting in hepatic steatosis through a retrospective review of pediatric liver biopsies performed in the last 10 years. A total of 158 patients with hepatic steatosis proven by histopathological evaluation were enrolled in the study, and baseline demographic features, anthropometric measurements, physical examination findings, laboratory data, ultrasonographic findings, and liver histopathologies were noted. RESULTS: The two most common diagnoses were inborn errors of metabolism (IEM) (52.5%) and nonalcoholic fatty liver disease/steatohepatitis (NAFLD/NASH) (29.7%). The three most common diseases in the IEM group were glycogen storage disorders, Wilson's disease, and mitochondrial disease. The rates of consanguineous marriage (75.6%; odds ratio [OR], 26.040) and positive family history (26.5%; OR, 8.115) were significantly higher (p=0.002, p<0.001, respectively) in the IEM group than those in the NAFLD/NASH group. Younger age (p=0.001), normal anthropometric measurements (p=0.03), increased aspartate aminotransferase levels (p<0.001), triglyceride levels (p=0.001), and cholestatic biochemical parameters with disrupted liver function tests, as well as severe liver destruction of hepatic architecture, cholestasis, fibrosis, and nodule formation, were also common in the IEM group. CONCLUSION: Parents with consanguinity and positive family history, together with clinical and biochemical findings, may provide a high index of suspicion for IEM to distinguish primary steatosis from the consequence of a more complex disorder.

A very rare cause of protein losing enteropathy: Gaucher disease.

BACKGROUND: Mesenteric lymphadenopathy is a rare manifestation of Gaucher disease (GD) in children and can be accompanied by protein losing enteropathy (PLE). PLE is a difficult-to-treat complication of GD. To date, only a few pediatric GD cases with PLE and massive mesenteric lymphadenopathies have been reported. CASE: Here, we report a girl with chronic neuronopathic GD, whose disease course was complicated by massive mesenteric lymphadenopathies with resultant protein losing enteropathy despite a regular and appropriate enzyme replacement therapy of 60 IU/kg/biweekly until the development of mesenteric lymphadenopathies and 120 IU/kg/biweekly thereafter. CONCLUSIONS: PLE is a devastating and life threatening complication of GD developing despite long term use of high dose ERT. Clinicians should be alert for this complication particularly in GD patients presenting with progressive abdominal distension, edema, ascites and diarrhea or in patients who have already developed mesenteric lymphadenopathies. Timely diagnosis may allow early intervention with previously suggested surgical or medical treatment options. Although there is no specific and effective treatment, surgical and aggressive medical interventions in addition to ERT were reported to relieve diarrhea and halt progression of mesenteric lymphadenopathies.

Clinical-genetic characteristics and treatment outcomes of Turkish children with Gaucher disease type 1 and type 3: A sixteen year single-center experience.

Data from 38 children were retrospectively analyzed to determine the patient characteristics of Turkish children with Gaucher disease (GD) and evaluate the impact of enzyme replacement therapy (ERT) in a pediatric cohort consisting of two different sub-types of the disease, Gaucher disease type 1 (GD1) and type 3 (GD3). Both types were represented equally (GD1/GD3 = 20/18). L444P (35.5%) was the most common mutant allele while L444P/L444P (34.2%) was the most common genotype overall. Compound heterozygosity of N370S and L444P homozygosity were the dominant genotypes in Turkish children with GD1 and GD3, respectively. None of the patients had moderate to severe thrombocytopenia at last follow-up while the percent of patients with anemia decreased from 60% to 5.7% (p < 0.001). Significant improvements in mean liver (from 2.2 to 1.6 MN, p < 0.001) and spleen (from 15.5 to 7.6 MN, p < 0.001) volumes were observed in the first year of ERT. Linear growth was ameliorated as shown by the decrease in the percent of patients having short stature from 34.3% to 13.3% (p < 0.01) at year 5. Erlenmeyer flask deformity, osteopenia and scoliosis were common skeletal findings. Although none of the patients had lung disease at diagnosis, 20% developed radiological findings suggestive of pulmonary involvement. This single center experience is the first comprehensive study from Turkey not only reporting clinical and genetic characteristics of GD patients but also providing information on the outcomes of ERT in two different sub-types of GD. Genotypic background of Turkish children with GD is similar to western populations. Although visceral and hematological therapeutic goals are reached as early as one year of ERT in both sub-types, achieving normal growth takes several more years than suggested in significant number of children with GD.

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. Demographic and clinical features, accompanying autoimmune diseases, family history for CD and degree of damage in small intestinal mucosa (according to Marsh classification) at the time of diagnosis were determined. Twenty-two siblings of celiac patients without CD (15 females, 65.2%) consisted control group 1, and 66 (40 females, 60.6%) people from the normal population consisted control group 2. RESULTS: The allele frequencies of HLA B8, B50, C6, C7, DR3, DR7, DQ2, and DR3 homozygosity were higher in the patient group. HLA DQ2 positivity was 89% in the patient group, 73.9 and 45.5% in control groups 1 and 2, respectively (p < 0.0001). HLA A30, C14, DR11, DQ3 frequency were lower in patients compared to both control groups. HLA-DR15 alleles in patient and control group 1 was significantly lower compared to the general population (p < 0.05). Thirty (41.1%) patients had typical, 43 (58.9%) patients had atypical presentation. Thirteen (17.8%) patients had other autoimmune diseases. There was no association between coexisting autoimmune diseases and the HLA antigens. Fifteen patients (20.5%) had a positive family history for CD; patients with HLA A69, B41 and C12 alleles had a higher positive family history (p < 0.05). Intestinal mucosal damage was as follows: 5 patients (6.8%) had Marsh 2, 25 (34.3%) Marsh 3a, 28 (38.4%) Marsh 3b, 15 (20.5%) Marsh 3c. Patients with HLA-DR15 alleles had more frequent Marsh 3a lesions (p < 0.05). CONCLUSIONS: B8, B50, C6, C7, DR3, DR7, DR3/DR3, DQ2 alleles were risk factors for CD in the Turkish population. HLA C14, DR11, DR15, and DQ3 alleles were found to have a protective role in the same population.

Assessment of swallowing function in pediatric patients with Wilson's disease: Results of a videofluoroscopic swallowing study.

BACKGROUND AND STUDY AIMS: Wilson's disease (WD) is a complex disorder related to copper metabolism and neurological involvement may lead to swallowing disorders. The purpose of this study was to evaluate swallowing function in pediatric patients with WD by using videofluoroscopic swallowing study (VFSS). PATIENTS AND METHODS: A total of 21 patients were included in the study, prospectively. The VFSS was conducted to evaluate swallowing function of the patients. The penetration-aspiration scale (PAS) was used to assess penetration-aspiration severity. RESULTS: According to the VFSS, abnormal results were detected in nine patients (42.9%) with WD. Of these nine patients, oral phase dysfunction was present in one patient, laryngeal penetration was present in one patient and moreover, abnormal esophageal body function was detected in all nine patients. Of these nine patients, five had neurological presentation at the time of diagnosis, and remaining four patients had hepatic presentation. Mean PAS score of the patients was 1. CONCLUSION: The current study results suggest that subclinical swallowing dysfunction may be observed in patients with either neurological or hepatic WD. Further studies are necessary to reveal the real incidence of esophageal phase problems of swallowing function in pediatric patients with WD.

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. The clinical spectrum was divided into three categories according to the main symptoms that led to the diagnosis: gastrointestinal presentation, non-gastrointestinal presentation, and silent cases. The mean age of the patients was 7.2 +/- 4.3 years at diagnosis. According to the presenting signs, the patients were defined as gastrointestinal presentation (129 patients, 58.6%), non-gastrointestinal presentation (76 patients, 34.6%) and silent cases (15 patients, 6.8%). This study showed that the number/percentage of CD cases who presented with non-gastrointestinal symptoms/conditions, so-called "non-gastrointestinal presentation", have been increasing in the last eight years.

[Detection of cagA prevalence in clinical isolates of Helicobacter pylori]. / Helicobacter pylori klinik izolatlarinda cagA prevalansinin belirlenmesi.

Helicobacter pylori is a gram-negative, microaerophilic bacterium that colonizes human gastric mucosa and affects approximately 50% of the whole world population. It has put the blame on gastric ulcer, duodenal ulcer, chronic atrophic gastritis, mucosa-associated lymphoid tissue lymphoma and stomach adenocarcinoma, as the etiological agent. The cagA (cytotoxin-associated gene A) gene which is one of the most important virulence factors of H.pylori, encodes a 120-145 kDa protein called CagA antigen that may cause cell transformation. The prevalence of cagA positive H.pylori infections varies according to geographical area and age of the patients. Recent studies have suggested that cagA positive H.pylori strains play a role in the development of gastric carcinoma. The aim of this study was to evaluate the prevalence of cagA positive H.pylori isolates in adult and pediatric patient groups in Hacettepe University, Faculty of Medicine. The study was performed on 198 H.pylori stocked strains which have been isolated between 1997-2003 period from biopsy specimens of 107 adult and 91 pediatric patients with gastrointestinal pathology. Chromosomal DNA was extracted by the cetyltrimethyl-ammonium bromide (CTAB) method, and a 348 bp region of the cagA gene was amplified by an "in-house" polymerase chain reaction (PCR) using F1 and B1 primers (Gene Bank number: L11714 position 1231 and 1578R). The evaluation of PCR products revealed that 58.6% (116/198) of the isolates were cagA positive. The rates of cagA positive H.pylori among the adult and pediatric isolates were 62% and 55%, respectively. The present study demonstrates the prevalence of cagA in clinical isolates of H.pylori in our university hospital, and our data was found concordant with the results of studies reported from developed countries.