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Author(s): Emre Leventoglu [sup.1] , Bahar Büyükkaragöz [sup.1] , Bahriye Uzun Kenan [sup.1] , Sinan Sari [sup.2] , Sevcan A. Bakkaloglu [sup.1] Author Affiliations: (1) grid.25769.3f, 0000 0001 2169 7132, [...]

Author(s): Emre Leventoglu [sup.1] , Bahar Büyükkaragöz [sup.1] , Bahriye Uzun Kenan [sup.1] , Sinan Sari [sup.2] , Sevcan A. Bakkaloglu [sup.1] Author Affiliations: (1) grid.25769.3f, 0000 0001 2169 7132, [...]

Background: Food‐induced immediate response of the esophagus (FIRE) is a new phenomenon that has been described in eosinophilic esophagitis (EoE) patients. It is suspected when unpleasant symptoms occur suddenly on contact of the triggering food with the esophageal surface and recur with repeated exposures. It can often be mistaken for pollen‐food allergy syndrome (PFAS) and solid food dysphagia. Data on FIRE is limited to one survey study and case reports, and there are no screening studies conducted on either adults or children with EoE. In this study, we aimed to screen children aged ≥7 years old with EoE for FIRE. Methods: Demographic data were collected from medical records. A questionnaire about FIRE was applied to all participants. Skin prick tests were done on suspected patients to identify the triggering foods. FIRE is defined as suitable clinical symptoms with suspected food allergen exposure. Results: A total of 78 patients (74.4% male, median age: 13.5 years) were included. Unpleasant and recurrent symptoms distinct from dysphagia with specific foods were reported in 16.7% of the patients, all of whom had concomitant allergic rhinitis (AR). The symptoms described by almost all patients were oropharyngeal itching and tingling (PFAS: 15.3%) excluding only one patient reporting retrosternal narrowing and pressure after specific food consumption (FIRE: 1.2%). Conclusions: Although definitive conclusions regarding the true prevalence of FIRE cannot be made, it does not seem to be common as PFAS. However, it deserves questioning particularly in the presence of concurrent AR and/or PFAS in children with EoE. [ABSTRACT FROM AUTHOR]

Background/aim: Eosinophilic esophagitis (EoE) is a chronic immune-mediated disease. Telemedicine is a healthcare technology used when a patient is separated by distance. The reliability of the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) for telemedicine applications, has not been studied yet. Therefore, we aimed to evaluate the reliability of PEESS v2.0 for telemedicine. Materials and methods: We sent a telesurvey using questionnaires via electronic telecommunication as the telemedicine method. Children with EoE and their parents were asked to complete PEESS v2.0 with the telesurvey method (unsynchronized with the physician) and attend in-person visits one week apart. Intraclass correlation (ICC), Wilcoxon, and Bland-Altman tests were used as reliability analyses. Reliability was defined as a strong agreement between the measurements in ICC ≥ 0.8 and a p-value of ≤0.05 and no statistically significant difference between the scores of the two methods in the Wilcoxon and Bland-Altman analyses, i.e. a p-value of >0.05. Results: The total scores of children and parents were higher in in-person visits than in the telesurvey (Wilcoxon tests, p ≤ 0.05). Bland-Altman analysis showed that the mean difference in total scores between the two methods was significant for both children and parents (p ≤ 0.05). ICC levels for the children and parent scores for the entire group ranged from 0.595 to 0.763 (moderate agreement). Conclusion: Unsynchronized telesurvey use of PEESS v2.0 is unreliable both for children and parents. We suggest testing the reliability of chosen telemedicine methods before using them in clinical and research practice. [ABSTRACT FROM AUTHOR]

Background: High‐quality scales (HQS) suitable that measure symptoms and adaptive behaviors (AB) with proven validity and reliability are needed for different age groups of children with eosinophilic esophagitis (EoE). Objective: To develop a high‐quality pediatric EoE symptoms and AB scale for different age groups. Methods: Children (7–11 years), teens (12–18 years), and parents of 2–18‐year‐old children with EoE were included. A HQS should have encompassed: the identification of domain and item generation; content validity (CnV) and field test for construct validity (CsV) and reliability. Convergent validity (CgV) was examined for CsV. Correlations between the Pediatric Eosinophilic Esophagitis Symptom Score, version 2.0 (PEESS v2.0) and Gazi University Eosinophilic Esophagitis Symptoms and Adaptive Behavior Scale (GaziESAS) version 2.0 (v2.0) were examined for CgV. Reliability was determined through internal consistency (Cronbach‐α) and test–retest reliability (intraclass correlation coefficients: ICC). Results: Nineteen children, 42 teens, and 82 parents completed the study. GaziESAS v2.0 was composed of 20 items with two main domains: symptoms (subdomains: dysphagia and nondysphagia) and AB. CnV indexes were excellent for all items. The CgV varied from good to excellent correlation (r = 0.6 to r = 0.9). GaziESAS v2.0 showed good reliability (Cronbach‐α >0.7 and ICC >0.6). Conclusion: GaziESAS v2.0 is the first pediatric HQS that measures the frequency of symptoms and AB in EoE within the last month with separate forms for children, teens, and parents. [ABSTRACT FROM AUTHOR]

Copyright of Journal of Pediatric Disease / Türkiye Çocuk Hastalıkları Dergisi is the property of Turkish Journal of Pediatric Disease and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Copyright of Gazi Medical Journal is the property of Galenos Yayinevi Tic. LTD. STI and its content may not be copied or emailed to multiple sites or posted to a listserv without the copyright holder's express written permission. However, users may print, download, or email articles for individual use. This abstract may be abridged. No warranty is given about the accuracy of the copy. Users should refer to the original published version of the material for the full abstract. (Copyright applies to all Abstracts.)

Objective: Alpha-1 antitrypsin deficiency (AATD) is the most common genetic liver disorder in the children. We aimed to evaluate the clinical, laboratory and histopathological findings of the liver in children who referred for the liver dysfunction and diagnosed as AATD. Material and Methods: The demographic, clinical, laboratory, histopathological findings and genotypes of the children, aged 0-18 years old and diagnosed as AATD in the department of Pediatric Gastroenterology, were evaluated retrospectively. The patients are divided into two groups as the patients who are homozygous for the ZZ allele (group 1) and the patients who have the other genotypes (group 2). Results: The 20 children were diagnosed as AATD between June 1998 and June 2018. Phenotype or genotype tests were performed in 18 children; 7 children (35%) were homozygous for the ZZ allele, 7 children (35%) were heterozygous for the Z allele (MZ), a child was heterozygous for the S allele (MS), a child had MMalton allele, a child has Mduarte allele, a child had I allele. Serum A1AT level in the group 1 was lower than the group 2 (p=0,016). The other clinical and laboratory findings were not statistically different between the two groups. In the follow-up, liver transplantation was performed in two patients for the end-stage liver disease; one of them is heterozygous for the Z allele (MZ) and the phenotype or genotype tests could not be done in the other patient Conclusion: Although AATD is an important cause of the liver disease in children, progressive liver disease develops in a small proportion of patients carrying the AATD mutation. [ABSTRACT FROM AUTHOR]

p.R375W (Fibrinogen Aguadilla) is one out of seven identified mutations (Brescia, Aguadilla, Angers, Al du Pont, Pisa, Beograd, and Ankara) causing hepatic storage of the mutant fibrinogen γ. The Aguadilla mutation has been reported in children from the Caribbean, Europe, Japan, Saudi Arabia, Turkey, and China. All reported children presented with a variable degree of histologically proven chronic liver disease and low plasma fibrinogen levels. In addition, one Japanese and one Turkish child had concomitant hypo-APOB-lipoproteinemia of unknown origin. We report here on an additional child from Turkey with hypofibrinogenemia due to the Aguadilla mutation, massive hepatic storage of the mutant protein, and severe hypo-APOB-lipoproteinemia. The liver biopsy of the patient was studied by light microscopy, electron microscopy (EM), and immunohistochemistry. The investigation included the DNA sequencing of the three fibrinogen and APOB-lipoprotein regulatory genes and the analysis of the encoded protein structures. Six additional Fibrinogen Storage Disease (FSD) patients with either the Aguadilla, Ankara, or Brescia mutations were investigated with the same methodology. A molecular analysis revealed the fibrinogen gamma p.R375W mutation (Aguadilla) but no changes in the APOB and MTTP genes. APOB and MTTP genes showed no abnormalities in the other study cases. Light microscopy and EM studies of liver tissue samples from the child led to the demonstration of the simultaneous accumulation of both fibrinogen and APOB in the same inclusions. Interestingly enough, APOB-containing lipid droplets were entrapped within the fibrinogen inclusions in the hepatocytic Endoplasmic Reticulum (ER). Similar histological, immunohistochemical, EM, and molecular genetics findings were found in the other six FSD cases associated with the Aguadilla, as well as with the Ankara and Brescia mutations. The simultaneous retention of fibrinogen and APOB-lipoproteins in FSD can be detected in routinely stained histological sections. The analysis of protein structures unraveled the pathomorphogenesis of this unexpected phenomenon. Fibrinogen gamma chain mutations provoke conformational changes in the region of the globular domain involved in the "end-to-end" interaction, thus impairing the D-dimer formation. Each monomeric fibrinogen gamma chain is left with an abnormal exposure of hydrophobic patches that become available for interactions with APOB and lipids, causing their intracellular retention and impairment of export as a secondary unavoidable phenomenon. [ABSTRACT FROM AUTHOR]

Hepatoportal sclerosis (HPS) is a syndrome of obscure etiology, and is one of the causes of noncirrhotic portal hypertension (PH). We aimed to investigate this heterogeneous group of patients whose presentation showed cholestatic features, histopathologically. Between 1999 and 2009, 12 children diagnosed with HPS were retrospectively evaluated. HPS was diagnosed with evidence of PH, noncirrhotic liver biopsy with typical histopathologic findings, and exclusion of other possible causes of PH. The data was obtained from pathology reports and microscopic slides. In histopathological re-evaluation fibrosis state, aberrant portal vessels, portal tract dilation and inflammation, ductular reaction, regenerative nodular hyperplasia, acinar transformation, presence of bile pigment, and cholangitis were noted. Serum alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl, alkaline phosphatase, bilirubin, and albumin levels, presentation patterns, and radiologic findings were assessed. Familial relationship degrees were also investigated. Twelve patients (9 boys, 3 girls; 3-180 months) were re-evaluated. Two pairs of the patients were siblings. Parents of 7 patients were consanguine. The most common presenting symptom was abdominal distension. Histopathologically, all patients had hepatoportal sclerosis/intimal fibrous thickening of portal vein and periportal fibrosis, acinar transformation, and regenerative nodules not surrounded by fibrous septae. Eight patients had vascular aberrations, 7 had ductular reaction, 1 showed mild cholangitis, and 1 had canalicular bile pigment. We conclude that genetic predisposition might be a possible factor for HPS development in Turkish patients and it should be kept in mind that cholestatic features noticed in histopathological evaluation may represent a variant group in the spectrum of HPS. [ABSTRACT FROM AUTHOR]

OBJECTIVES:Epidemiological studies of celiac disease (CD) in Turkey have been performed only within some regions of the country. The aim of this study was to determine the prevalence of CD in Turkish school children.METHODS:Between 2006 and 2008, serum samples were collected from 20,190 students (age range, 6-17 years) in 139 schools in 62 cities from different regions of Turkey. CD was screened using IgA antitissue transglutaminase (IgA-tTG) and total serum IgA. Subjects with selective IgA deficiency were further tested for IgG-tTG. Serum samples positive for IgA or IgG-tTG were further tested for IgA antiendomysial antibodies (IgA-EMAs) using an indirect immunofluorescence method. Small-intestinal biopsy was offered to all subjects with tTG antibody positivity.RESULTS:Of the 20,190 subjects, 489 were antibody positive (IgA-tTG only in 270, both IgA-tTG and IgA-EMA in 215, and IgG-tTG in 4). Selective IgA deficiency was detected in 108 patients, and 4 of them were positive for IgG-tTG. An intestinal biopsy was conducted in 215 subjects (IgA-tTG positive in 110, IgA-tTG and IgA-EMA positive in 104, and IgG-tTG positive in 1). The biopsy findings of 95 children were consistent with CD. Thus, the estimated biopsy-proven prevalence was 1:212 children. The positive predictive value (PPV) for IgA-tTG plus EMA was 75.9%. PPV was 44.3% when only IgA-tTG was used.CONCLUSIONS:We estimate that the prevalence of CD is at least 0.47% in healthy Turkish school children. Screening for IgA-tTG plus EMA provided better results for diagnosis when compared with testing for IgA-tTG alone. [ABSTRACT FROM AUTHOR]

Aim: The aim of the present study was to determine the relative frequency of recurrent pneumonia in children and to describe its underlying illnesses. Materials and methods: Children between 3 months and 16 years old who had a history of 2 or more episodes of pneumonia per year, or 3 or more episodes in a lifetime were investigated retrospectively at Doctor Sami Ulus Children's Training and Research Hospital between January 2002 and December 2004. Results: Out of 595 children admitted for pneumonia, 62 (10.42%) met the criteria for recurrent pneumonia. An underlying illness was demonstrated in 56 patients (90.32%). In this study, the underlying illness was diagnosed during recurrence in all patients. The patients with persistent pneumonia were excluded from the study. Underlying diseases were bronchial asthma (30.64%), immune deficiency disorders (17.75%), aspiration syndromes (17.75%), and congenital anomalies (16.12%). No predisposing illness could be demonstrated in 6 patients (9.68%). Conclusion: Approximately 1 in 10 children with pneumonia in our hospital had recurrent pneumonia. Most of these children had an underlying illness, which was demonstrated. Bronchial asthma was the most common underlying illnesses for undiagnosed recurrent pneumonia in children. [ABSTRACT FROM AUTHOR]

A 7-month-old Turkish boy presented with partial albinism and typical clinical features of an accelerated phase, suggesting the diagnosis of Griscelli syndrome. The diagnosis was confirmed by light microscopic evaluation of hair and a peripheral blood smear. Genetic analysis identified a mutation in the Rab27A gene. He was initiated immunosuppressive treatment but accelerated phase could not be ameliorated. He unfortunately died from multiorgan failure. The finding of partial albinism in children should alert clinicians to consider Griscelli syndrome since simple methods can corfirm the diagnosis and early diagnosis is life-saving. [ABSTRACT FROM AUTHOR]

Introduction: The increased use of biologic drugs (BDs) may lead to an increase in immediate hypersensitivity reactions (I-HSRs) in pediatric patients with inflammatory bowel disease (IBD). Our aim was to assess I-HSRs to BDs in pediatric IBD, examining frequency, clinical features, management, and associated risk factors. Methods: All children diagnosed with IBD at our institution between January 1, 2006, and August 1, 2023, and who developed I-HSRs related to any BD were included in the study. Results: In a study of 197 pediatric IBD patients, 61 used BD. Among these, 52.4% were male, with a median diagnosis age of 145 months (13–215). Out of a total of 1,679 administrations, 6 patients developed I-HSRs (5 with infliximab, 1 with adalimumab), resulting in a frequency of 9.8% per patient and 0.36% per administration. Of these, 66.7% were cases of Type 1 HSRs (skin test positivity n = 1), while the rest were infusion-related reactions (anti-drug antibody positivity n = 4), all of which were mild to moderate in severity. In the age and gender-adjusted logistic regression model, the presence of any comorbid allergic disease was significantly associated with the occurrence of I-HSR (aOR = 8.35; 95% CI = 1.24–56.38; p = 0.029). Conclusion: The frequency of I-HSRs to BDs in children with IBD is not rare but not severe in the long term. The presence of any comorbid allergic disease is a risk factor for the development of I-HSRs to BDs. [ABSTRACT FROM AUTHOR]

Both plasma and cerebrospinal fluid (CSF) are rich in cholesterol and its metabolites. Here we describe in detail a methodology for the identification and quantification of multiple sterols including oxysterols and sterol-acids found in these fluids. The method is translatable to any laboratory with access to liquid chromatography – tandem mass spectrometry. The method exploits isotope-dilution mass spectrometry for absolute quantification of target metabolites. The method is applicable for semi-quantification of other sterols for which isotope labelled surrogates are not available and approximate quantification of partially identified sterols. Values are reported for non-esterified sterols in the absence of saponification and total sterols following saponification. In this way absolute quantification data is reported for 17 sterols in the NIST SRM 1950 plasma along with semi-quantitative data for 8 additional sterols and approximate quantification for one further sterol. In a pooled (CSF) sample used for internal quality control, absolute quantification was performed on 10 sterols, semi-quantification on 9 sterols and approximate quantification on a further three partially identified sterols. The value of the method is illustrated by confirming the sterol phenotype of a patient suffering from ACOX2 deficiency, a rare disorder of bile acid biosynthesis, and in a plasma sample from a patient suffering from cerebrotendinous xanthomatosis, where cholesterol 27-hydroxylase is deficient. [Display omitted] • Absolute quantification of oxysterols and cholestenoic acids. • Methodology applicable to plasma and cerebrospinal fluid. • Data generated for non-esterified and total sterols. • Diastereoisomers at C-24 and C-25 separated and quantified. [ABSTRACT FROM AUTHOR]