Compliance and Lifestyle of Children with Celiac Disease in the Iranian Children.

Background: Celiac disease is popular and needs a proper and constant gluten-free diet. However, data on the experience of the disease by children are insufficient. A few children have difficulty adjusting their lifestyles, and gluten-free foods are difficult for them. The present study aimed to find influential factors in the growth disorders and nonresponse to the treatment diet in celiac patients. Materials and Methods: We gave a list of all children with celiac disease to the project manager and according to the criteria extracted additional information from their files. Duodenal biopsies on 382 patients with suspected celiac disease and 93 patients with positive pathology were included in the study, regardless of antibody and genetic titer, then analyzed their information using appropriate statistical tests. Results: The mean age of individuals was 9.48 ± 3.88, and 35 were male and 58 female. At the age of <5, there was more growth disorder than other age groups. The recovery percentage in short stature was significantly better in children with higher marches, and they responded better to the treatment regimen. Individuals with comorbidities had higher anti-tTG and lower Hb levels, higher incidence of growth disorder, did not respond to the treatment regimen. Those with a first-degree relative with celiac disease had a lower growth disorder than others. Conclusion: Identifying and correcting nutritional disorders in patients with celiac disease need to evaluate persistent symptoms and identify their causes to plan appropriate treatment and follow-up of patients with celiac disease step by step and continuously.

Clinical Phenotype and Disease Course of Inflammatory Bowel Disease in Iran: Results of the Iranian Registry of Crohn's and Colitis (IRCC).

BACKGROUND: Data on the epidemiology of inflammatory bowel disease (IBD) in the Middle East are scarce. We aimed to describe the clinical phenotype, disease course, and medication usage of IBD cases from Iran in the Middle East. METHODS: We conducted a cross-sectional study of registered IBD patients in the Iranian Registry of Crohn's and Colitis (IRCC) from 2017 until 2022. We collected information on demographic characteristics, past medical history, family history, disease extent and location, extra-intestinal manifestations, IBD medications, and activity using the IBD-control-8 questionnaire and the Manitoba IBD index, admissions history, history of colon cancer, and IBD-related surgeries. RESULTS: In total, 9746 patients with ulcerative colitis (UC) (n=7793), and Crohn's disease (CD) (n=1953) were reported. The UC to CD ratio was 3.99. The median age at diagnosis was 29.2 (IQR: 22.6,37.6) and 27.6 (IQR: 20.6,37.6) for patients with UC and CD, respectively. The male-to-female ratio was 1.28 in CD patients. A positive family history was observed in 17.9% of UC patients. The majority of UC patients had pancolitis (47%). Ileocolonic involvement was the most common type of involvement in CD patients (43.7%), and the prevalence of stricturing behavior was 4.6%. A prevalence of 0.3% was observed for colorectal cancer among patients with UC. Moreover,15.2% of UC patients and 38.4% of CD patients had been treated with anti-tumor necrosis factor (anti-TNF). CONCLUSION: In this national registry-based study, there are significant differences in some clinical phenotypes such as the prevalence of extra-intestinal manifestations and treatment strategies such as biological use in different geographical locations.

Six-minute walk test and factors affecting exercise capacity in children with cystic fibrosis.

PURPOSE: This study aimed to compare the result of the six-minute walk test (6MWT) in patients with cystic fibrosis (CF) aged < 20 years old and individuals without CF. METHODS: In this cross-sectional study, 50 children and adolescents with CF and 20 children and adolescents without CF underwent the 6MWT. Vital signs before and immediately after the 6MWT and six-minute walk distance (6MWD) were evaluated. RESULTS: The mean change in heart rate, percentage of peripheral oxygen saturation (SpO2%), systolic blood pressure, respiratory rate, and dyspnea severity during the 6MWT was significantly higher in patients with CF. In the case group, 6MWD was associated with regular chest physical therapy (CPT) and forced expiratory volume (FEV)> 80%. Patients with CF receiving regular CPT or mechanical vibration and with FEV in the first second > 80% showed better physical capacity during the 6MWT (smaller Sp02% decline and lower dyspnea perception). CONCLUSION: Children and adolescents with CF have lower physical capacity compared to individuals without CF. CPT and mechanical vibration could be used to increase physical capacity in this population.

Diagnostic Value of Fecal Calprotectin in Children with Gastritis, Duodenitis and Helicobacter Pylori.

Background: Fecal calprotectin (FC) is suggested as a novel biomarker for the diagnosis of gastrointestinal (GI) diseases; however, few studies have investigated its diagnostic value for Helicobacter pylori (H. pylori). Therefore, the current study evaluated the level of FC and its diagnostic value in patients with H. Pylori and its related conditions including gastritis and duodenitis. Methods: In this case-control study, 120 children with upper GI symptoms, who were indicated to undergo upper GI endoscopic examination, were consecutively included. Patients were categorized into different groups based on their endoscopic findings including H. pylori, gastritis, duodenitis or normal. Results: Patients with gastritis (P = 0.014) and those with duodenitis (P < 001) had significantly higher FC. The level of FC was higher in patients with H. pylori but this difference was marginally significant (P = 0.054). The level of FC had poor ability to diagnose the presence of H. pylori (P = 0.054) and gastritis (area under the curve, AUC = 0.639, P = 0.014). However, it had acceptable power to diagnose patients with or duodenitis (AUC = 0.718, P < 0.001). The sensitivity and specificity of FC for diagnosis of gastritis were 64 and 65 percent (cut-off = 45.2 µg/g), and for duodenitis were 77 and 61 percent (cut-off = 46.2 µg/g), respectively. Conclusions: FC can be considered as an objective and diagnostic tool for duodenitis. However, due to the low sensitivity and specificity, it is suggested to consider it as an objective supplementary test beside other established diagnostic modalities.

Comparative evaluation of Cryptosporidium infection in malnourished and well-nourished children: Parasitic infections are affected by the interaction of nutritional status and socio-demographic characteristics.

Cryptosporidium, as a small protozoan parasite, is a leading cause of persistent diarrhea in children in developing countries and has both a short and long-term impact on the growth of children. In the present study, Cryptosporidium infection was compared in malnourished and well-nourished children by modified acid-fast staining, nested-polymerase chain reaction (nested-PCR) and loop-mediated isothermal amplification (LAMP) methods. As a case-control study, Cryptosporidium infection in 94 malnourished children was evaluated and compared with those of 188 age and gender-matched well-nourished children. Oocysts of Cryptosporidium were detected by modified acid-fast staining method. The extracted DNA was amplified by nested-PCR and LAMP techniques. In addition, positive amplicons were directly sequenced for phylogenetic analysis. Cryptosporidium oocysts were found in the stools of two (2.12 %) children who were hospitalized and had diarrhea by nested-PCR while three isolates (3.2 %) were found by LAMP. Cryptosporidium-positive children were more malnourished compared to those who were negative for Cryptosporidium infection but this important finding was not statistically significant. C. parvum was the main species of Cryptosporidium detected in malnourished children in northwest Iran. LAMP can be considered as a sensitive field monitoring assay in patients with low parasite burden. Nutritional status and socio-demographic factors may have interactive effects on the incidence and severity of parasitic diseases.

A multicentre development and evaluation of a dietetic referral score for nutritional risk in sick infants.

BACKGROUND & AIMS: Unrecognized nutritional issues may delay recovery in hospitalized infants. It has been proposed that nutritional risk screening should be performed at hospital admission, but few tools include infants. The aim of this study was to develop and test a tool to identify sick infants in need of dietetic input. METHODS: Hospitalised infants were recruited from hospitals in the United Kingdom (UK), Greece and Iran. Weight, skinfold thickness and mid upper arm circumference (MUAC) were measured, with detailed dietetic assessment in the UK and Greece. Simple screening questions were used in the UK cohort to formulate a score (infant early nutrition warning score-iNEWS) which was then validated in the Greek and Iranian groups. RESULTS: After dietetic assessment, 20 (9.6%) UK and 22 (22%) Greek infants were rated as needing dietetic input. Underweight, poor weight gain/loss and reduced intake were all independent predictors of perceived need for dietetic input in stepwise multivariate regression analysis. The score based on these items (iNEWS), had 84% sensitivity, 91% specificity and 49% positive predictive value to predict need for dietetic input in the UK cohort. In the Greek cohort this was 86%, 78% and 53% respectively. In all three countries, infants with high iNEWS had significantly lower average skinfold thickness (between -1 and -1.8 SD, p < 0.0001) and MUAC (between -1.8 and -2 SD, p < 0.0001) than those at low risk. CONCLUSIONS: iNEWS, a simple nutritional risk tool, identifies most hospitalised infants who need dietetic input. CLINICAL TRIAL REGISTRATION: https://clinicaltrials.gov/ct2/show/NCT03323957.

Defining a Core Data Set for Registry of Esophageal Atresia in the Northwest of Iran.

Defining the core data set is the main step for establishing a registry system. The aim of this study was to define the core data set for the registry of esophageal atresia in the northwest of Iran. METHODS: First, the preliminary list of data elements was extracted from the related registries of other countries, as well as from the literature. Then, a group of multidisciplinary experts was asked to score the tabulated list of data elements in terms of their importance using a 5-point Likert scale through a dual-round Delphi technique. Availability of data was assessed through a medical record review of 410 patients with esophageal atresia who had been hospitalized between March 2006 and March 2016 in Tabriz Children's Hospital. RESULTS: The main classes of data were defined, including maternal information, patient demographics, clinical information, complications, and follow-up data. Thirty-two of 51 data elements (the core data elements) had 100% availability. Demographic data were completely available for 60% of the data elements. For clinical data, the availability rate was above 75%, while for complications and follow-up, it was 100% (except for the weight and height). In the category of maternal data, no data was available on the genetic screening and amniocentesis. CONCLUSION: This study presents the core data set required for establishing an esophageal atresia registry in the northwest of Iran. A considerable number of identified cases and high availability of patient data indicated the feasibility of establishing the first esophageal atresia registry in the area.

Association of ACE, VEGF and CCL2 gene polymorphisms with Henoch-Schönlein purpura and an evaluation of the possible interaction effects of these loci in HSP patients.

BACKGROUND: Henoch-Schönlein purpura (HSP) is a multisystem, small vessel, leucocytoclastic vasculitis. It is predominantly a childhood vasculitis, rarely reported in adults. Studies have shown that several different genetic factors such as genes involved in inflammatory system and renin-angiotensin system (RAS) are important in the pathogenesis of Henoch-Schönlein purpura. OBJECTIVES: The purpose of this study was to evaluate the independent effect of 3 gene polymorphisms including CCL2-2518 C/T, VEGF-634G/C and ACE(I/D) with HSP disease and their possible joint interactions in developing the disease. MATERIAL AND METHODS: In this case-control study 47 HSP cases and 74 unrelated healthy controls were enrolled for evaluation. All individuals were genotyped for CCL2-2518C/T, VEGF-634G/C and ACE(I/D) gene polymorphisms. The possible association of these polymorphisms with susceptibility to develop HSP disease independently and in different joint combinations was evaluated. RESULTS: The frequencies of TT genotype and T allele of CCL2-2518C/T gene polymorphism and CC genotype and C allele of VEGF-634G/C gene polymorphism were significantly high in HSP children (p-values = 0.005 and = 0.007 respectively). Interestingly, studying the joint interaction of these 2 genotypes (CC genotype of VEGF G-634C and TT genotype of CCL2 C-2518T) in this cohort showed a more significant effect in the development of the disease (p < 0.000, OR = 6.009). The frequency of TT genotype of CCL2 gene when combined with II genotype of ACE gene in HSP children was significantly higher (p < 0.000, OR = 4.213). CONCLUSIONS: The results of this pilot study provide evidence of the possible gene-gene interaction effects of CCL2, VEGF and ACE genes in developing HSP disease.

Molecular analysis of glycogen storage disease type Ia in Iranian Azeri Turks: identification of a novel mutation.

Glycogen storage diseases (GSDs) are caused by abnormalities in enzymes that are involved in the regulation of gluconeogenesis and glycogenolysis. GSD I, an autosomal recessive metabolic disorder, is the most common GSD and has four subtypes. Here, we examined GSD Ia caused by the defective glucose-6-phosphatase catalytic (G6PC) gene. We investigated the frequency of GSD Ia and clarified its molecular aspect in patients with the main clinical and biochemical characteristics of GSD, including 37 unrelated patients with a mean age of three years at the time of diagnosis. All patients belonged to the Azeri Turkish population. Hypoglycaemia and hypertriglyceridaemia were the most frequent laboratory findings. Mutations were detected by performing direct sequencing. Mutation analysis of the G6PC gene revealed that GSD Ia accounted for 11% in GSD patients with involvement of liver. Three patients were homozygous for R83C mutation. In addition, a novel stop mutation, Y85X, was identified in a patient with the typical features of GSD Ia.

Gender Differences in Clinical Presentations of Cystic Fibrosis Patients in Azeri Turkish Population.

BACKGROUND: Cystic fibrosis (CF) is an autosomal recessive disorder with several clinical presentations. This study was undertaken in the Azeri Turkish population in Iran, to investigate gender differences in the age at onset and diagnosis, age of death, and duration of illness of CF. METHODS: The data of 331 CF patients from 2001 to 2015 was surveyed. Parameters including age, sex, ΔF508 mutation, age at onset, age at diagnosis, age of death and clinical presentations were evaluated for both sexes, using descriptive analysis. The association of gender with these variables was studied using logistic regression, chi-square test and Mann-Whitney U test by SPSS version 18. Odds ratio with a confidence interval of 95% and p≤0.05 was considered statistically significant. RESULTS: The study included 191 males (57.7%) and 140 females (42.3%), all showing statistically significant difference (p<0.001). Age duration differed between genders. Male and female patients were further under 9 and 4 years, respectively. The occurrence of ΔF508 mutation was 0.51 times more in females than in males. Age, diagnosis and sex were closely associated: males were diagnosed at a significantly later age than females (p=0.05). While this compression performed based on clinical presentations, males with respiratory disease had a later median age at diagnosis than females at lifespan (p=0.001). The risk of infertility in males was approximately two times greater than in females (p=0.02). CONCLUSION: These findings indicate gender differences in CF patients. Future studies are needed to establish other differences and evaluate the causes for the gender variations.

Caustic Ingestion in Children: a Systematic Review and Meta-Analysis.

Introduction: Caustic ingestion that occurs accidently is one of the most common problems in children. Methods: This systematic review has been performed by searching the databases including Science Direct, ProQuest, Google Scholar, and PubMed. A strategic search was performed with keywords including caustic, corrosive, ingestion, and children, and was limited to articles in English and Persian. Data were analyzed using Comprehensive Meta-Analysis2 and PASW Statistics 18. Results: We selected 64 articles regarding caustic ingestion with a total sample of 11,345 cases. The data analysis indicated a higher consumption in young boys (age range 2.78 (2.02) years (OR=0.53 with a 95% confidence interval of 0.49-0.57 (P=0.08)). The most common caustic substances were household cleaning agents, particularly bleaches and cleaners. Esophageal cancer and death were reported as well as digestive and respiratory complications. Invasive and expensive techniques are frequently used for diagnosis, treatment and follow up. Conclusion: The results demonstrated that although caustic ingestion is a serious problem among children, it is a preventable and manageable issue. Therefore, appropriate efforts by families, government, factories, health team and media should be made to handle adequately this matter.

Helicobacter Pylori Infection in Children with Type 1 Diabetes Mellitus: A Case-Control Study.

BACKGROUND: Helicobacter pylori infection is one of the most common chronic bacterial infections. There is challenge on the real rate of prevalence of H. pylori in diabetic patients. This study was done to assess the prevalence of H. pylori infection in children suffering from type 1 insulin-dependent diabetes mellitus. METHODS: In this case-control study, 80 diabetic patients (as the target group) refer to the Endocrinology Clinic of Tabriz Educational and Treatment Center, Tabriz northwestern Iran and 80 non-diabetic patients (as the control group) from the group of children referring to the GI Clinic of the same center  were enrolled in 2012 and 2013. Then H. pylori infection was assessed in two groups using measuring antibody (IgG) and stool antigen (HpSA). RESULTS: H. pylori infection tests were positive in 48 (60%) diabetic patients and in 32 (40%) in non-diabetic patients (P=0.030). There was a meaningful correlation between the frequency of H. pylori and the longer the duration of diabetes (P<0.001). No correlation was seen between H. pylori infection and other factors such as age of the patients (P=0.840), HbA1C level (P=0.312), age at which diabetes was diagnosed (P=0.800), average daily dosage of insulin (P=0.232), and presence of GI symptoms (P=0.430). CONCLUSIONS: Type 1 diabetic children especially cases with the longer duration of diabetes, are at risk acquiring H. pylori infection. Therefore, screening of H. pylori infection is helpful on the follow up of these patients.

MEFV mutations in Iranian Azari Turkish patients with Henoch-Schönlein purpura.

BACKGROUND/AIM: The aim of the current study was to screen the rate of MEFV mutations in Henoch-Schönlein purpura (HSP) and to investigate the association of these mutations plus clinical symptoms with HSP disease in the Iranian Azari Turkish ethnic group. MATERIALS AND METHODS: The study groups included 40 unrelated HSP patients and 200 apparently healthy people without any kind of inflammatory diseases as a control group. Molecular screening was performed for eight main mutations, namely M694V, M694I, M680I, V726A, E148Q, R761H, P396S, and R408Q, using polymerase chain reaction (PCR), restriction fragment length polymorphism (RFLP), and sequencing. RESULTS: Out of the 40 studied patients, 27 subjects (67.5%) did not show any mutation, whereas 10 patients (25%) were heterozygotes for one of the following mutations: M694V, M680I, V726A, E148Q. Moreover, three patients (7.5%) were compound heterozygotes for P369S and R408Q. The significant differences between the patient and control groups for M680I, V726A, E148Q, P396S, and R408Q were P = 0.0043, P = 0.0324, P = 0.0145, P = 0.0043, and P = 0.0043, respectively. Furthermore, no significant difference in clinical manifestations was observed between the two groups of patients with and without mutations. CONCLUSION: Based on the results, MEFV mutations could be considered effective genetic factors for development of HSP in the Iranian Azari Turkish ethnic group.

Efficacy of proton pump inhibitors and H2 blocker in the treatment of symptomatic gastroesophageal reflux disease in infants.

PURPOSE: Gastroesophageal reflux disease (GERD) occurs in pediatric patients when reflux of gastric contents presents with troublesome symptoms. The present study compared the effects of omeprazole and ranitidine for the treatment of symptomatic GERD in infants of 2-12 months. METHODS: This study was a clinical randomized double-blind trial and parallel-group comparison of omeprazole and ranitidine performed at Children Training Hospital in Tabriz, Iran. Patients received a standard treatment for 2 weeks. After 2 weeks, the patients with persistent symptoms were enrolled in this randomized study. RESULTS: We enrolled 76 patients in the present study and excluded 16 patients. Thirty patients each were included in group A (ranitidine) and in group B (omeprazole). GERD symptom score for groups A and B was 47.17±5.62 and 51.93±5.42, respectively, with a P value of 0.54, before the treatment and 2.47±0.58 and 2.43±1.15, respectively, after the treatment (P=0.98). No statistically significant differences were found between ranitidine and omeprazole in their efficacy for the treatment of GERD. CONCLUSION: The safety and efficacy of ranitidine and omeprazole have been demonstrated in infants. Both groups of infants showed a statistically significant decrease in the score of clinical variables after the treatment.

Topical tranexamic acid as a novel treatment for bleeding peptic ulcer: A randomised controlled trial.

BACKGROUND: Peptic ulcers are among the most common causes of upper gastrointestinal (GI) bleeding in children. The standard care for GI bleeding is endoscopy for diagnostic and therapeutic purposes. We aimed to assess the effect of topical tranexamic acid (TXA) via endoscopic procedures in children with GI bleeding caused by bleeding ulcers. PROCEDURE: In this randomised controlled trial, 120 children were evaluated by diagnostic procedures for GI bleeding, of which 63 (30 girls, 33 boys) aged 1-month to 15 years were recruited. The patients were randomly divided into case and control groups. In the case group, TXA was administered directly under endoscopic therapy. In the control group, epinephrine (1/10,000) was submucosally injected to the four quadrants of ulcer margins as the routine endoscopic therapy. In both groups, the patients received supportive medical therapy with intravenous fluids and proton pump inhibitor drugs. RESULTS: The mean ± standard deviation age of the children was 5 ± 2.03 years. Rebleeding occurred in 15 (11.4%) and 21 (9.8%) patients in the case and control groups, respectively (P = 0.50). The frequency of blood transfusion episodes (P = 0.06) and duration of hospital stay (P = 0.07) were not statistically different between the groups. CONCLUSION: Using topical TXA via endoscopic procedures may be effective in cases of GI bleedings caused by active bleeding ulcers. In order to establish this therapeutic effect, a large number of clinical studies are needed.

Diagnostic value of anti-smooth muscle antibodies and liver enzymes in differentiation of extrahepatic biliary atresia and idiopathic neonatal hepatitis.

BACKGROUND: We aimed to evaluate the diagnostic value of anti-smooth muscle antibodies (ASMA) and two liver markers (gamma-glutamyl transpeptidase [GGT] and alkaline phosphatase [ALP]) for differentiating between patients with extrahepatic biliary atresia (EHBA) and idiopathic neonatal hepatitis (INH). MATERIALS AND METHODS: During April 2010-2011, all infants at 2 weeks of age who were diagnosed with cholestasis and admitted to Children's Hospital of Tabriz were enrolled. Based on the results of physical examination, laboratory, imaging and pathological studies, neonates were divided into two groups (EHBA and INH). Receiver operating characteristics analysis was used to define sensitivity, specificity, positive predictive value (PPV), negative predictive value (NPV) and accuracy for ASMA, GGT and ALP. RESULTS: Thirty neonates with cholestasis (18 with EHBA and 12 with INH) and mean age of 54.66 ΁ 25.86 days were enrolled. Total and direct bilirubin, serum glutamic oxaloacetic transaminase, serum glutamic pyruvic transaminase and ASMA titres were highly not significant (P > 0.05) in patients with INH. GGT (P = 0.008) and ALP (P = 0.01) had statistically significant differences that were higher in patients with EHBA. The sensitivity, specificity, PPV and NPV, accuracy, LR+ and LR- of SMA in differentiating cases with BA were 66.7%, 75%, 80% 60%, 70%, 2.68 and 0.44, respectively. For GGT, the values were 88.9%, 66.7%, 80%, 80%, 79.1%, 3.08 and 0.31, respectively. Finally, for ALP, the values were 77.8%, 75%, 82.4%, 69.2%, 80%, 2.66 and 0.24, respectively. CONCLUSION: Our study showed that ASMA may be a useful biomarker for differentiation of EHBA from INH. Further studies with larger samples are recommended for confirming the results of this study.

Association Between Outcomes and Demographic Factors in an Azeri Turkish Population With Cystic Fibrosis: A Cross-Sectional Study in Iran From 2001 Through 2014.

BACKGROUND: Outcomesforcystic fibrosis patients are improving rapidly. The demographic factors are notable variables inoutcomes, which can be evaluated and modified. OBJECTIVES: This study was designed to investigate the association between outcome and demographic factors in patients with cystic fibrosis. PATIENTS AND METHODS: This was a cross-sectional study and data were gathered for 331 patients using the census method, from March 2001 to September 2014 in Iran. Data was analyzed using logistic regression analysis, chi-square test, and independent sample t test using SPSS 18. Odds ratio with confidence intervals of 95% and P < 0.05 were considered significant. RESULTS: There were 85 (25.7%) deceased patients and 246 (74.3%) living patients at the time of the study. Of the 246 living CF patients, 202 (82.2%) were less than nine years of age, and 77 (90.6%) out of the 85 deceased CF patients had died younger than four years of age. There was a significant difference between outcome and location of residence. The risk of mortality was 50% less in urban patients than in rural patients (P = 0.03). The risk of mortality was approximately two times higher in patients with a positive family history than in those with a negative family history (P = 0.02). The proportion of mortality was approximately two times, or 94%, higher for those in a consanguineous marriage than for those in a non-consanguineous marriage (P = 0.01). CONCLUSIONS: The results demonstrated that the mortality rate was higher in CF patients with a positive family history, a consanguineous marriage, and residence in a rural area. Therefore, demographic factors play an important role in the outcome of cystic fibrosis. Unfortunately, these parameters, which can be managed easily and with low cost, have been overlooked.

Normal Values of Spleen Length and Volume: An Ultrasonographic Study in Children.

We aimed to determine normal ultrasonographic limits of spleen length and volume in healthy Caucasian neonates and children. A total of 458 healthy cases (age, 1 d to 15 y; sex, 241 males and 217 females) with normal body measurements were included. Spleen length and volume were obtained ultrasonographically. The two genders were comparable for the mean spleen length and volume. Lower and upper normal limits were tabulated according to age and sex groups. Significant correlations (Pearson r > 0.80; p < 0.001) were present between spleen length/volume and age, height and weight. Two equations were created to estimate spleen length and volume by age. Normal spleen lengths and volumes and their lower and upper limits were obtained ultrasonographically in a large sample of Caucasian pediatric patients.

Chemokine MCP1/CCL2 gene polymorphism influences Henoch-Schönlein purpura susceptibility in Iranian Azeri-Turkish patients.

BACKGROUND: Henoch-Schönlein purpura (HSP) is the most common small-vessel vasculitis and mainly affects children. Although its pathophysiology is unknown, several studies have indicated the possible involvement of infections and genetic factors in the development of HSP. The human leukocyte antigen (HLA) gene family and several other genes involved in the inflammatory system have been studied. The CCL2 gene, encoding chemokine monocyte chemo-attractant protein 1 (MCP-1/CCL2), is one of several cytokine genes clustered on chromosome 17. The encoded protein displays chemotactic activity for monocytes. METHODS: This is a case-control study comparing 36 children diagnosed with HSP within the Iranian Azeri-Turkish ethnic population and 50 healthy adults from the same ethnic group. CCL2, C-2518T polymorphism genotypes were determined by polymerase chain reaction and by PVUII restriction enzyme analysis and subsequent agarose gel electrophoresis. RESULTS: Our results showed a significant association between the allelic and genotypic frequency of this gene and HSP disease in this cohort. The results of this study indicate that frequencies of the T allele of CCL2 (P = 0.015) and the TT genotype (P = 0.004) are significantly higher in HSP patients. A comparison of clinical symptoms and laboratory data with CCL2 C-2518T polymorphism showed that patients with the TT genotype presented a higher clinical score and more severe clinical features. CONCLUSIONS: MCP1/CCL2 C-2518T gene polymorphism is associated with susceptibility to HSP. This is the first study to report a significant association between MCP1/CCL2 C-2518T and a susceptibility to HSP in this population.

Association of TNF-α Gene Variants With Clinical Manifestation of Cystic Fibrosis Patients of Iranian Azeri Turkish Ethnicity.

BACKGROUND: Cystic fibrosis (CF), a life-limiting autosomal recessive disorder, is considered a monogenic disease that is caused by mutations in the cystic fibrosis transmembrane conductance regulator (CFTR) gene. According to several studies, mutation analysis of the cystic fibrosis transmembrane conductance regulator (CFTR) gene alone is insufficient to predict the phenotypic manifestations observed in cystic fibrosis (CF) patients. In addition, some patients with a milder CF phenotype do not carry any pathogenic mutation. Tumor Necrosis Factor-alpha (TNF-α) contributes to the pathophysiology of CF by causing cachexia. There is a reverse association between TNF-α concentration in patient's sputum and their pulmonary function. OBJECTIVES: To assess the effect of non-CFTR genes on the clinical phenotype of CF, two polymorphic sites (-1031T/C and -308G/A) of the TNF-α gene, as a modifier, were studied. PATIENTS AND METHODS: Focusing on the lung and gastrointestinal involvement as well as the poor growth, we first investigated the role of TNF-α gene in the clinical manifestation of CF. Furthermore, based on the hypothesis that the cumulative effect of specific alleles of multiple CF modifier genes, such as TNF-α, may create the final phenotype, we also investigated the potential role of TNF-α in non-classic CF patients without a known pathogenic mutation. In all, 80 CF patients and 157 healthy control subjects of Azeri Turkish ethnicity were studied by the PCR-RFLP method. The chi-square test with Yates' correction and Fisher's exact test were used for statistical analysis. RESULTS: The allele and genotype distribution of the investigated polymorphisms, and their associated haplotypes were similar in all groups. CONCLUSIONS: There was no evidence that supported the association of TNF-α gene polymorphisms with non-classic CF disease or the clinical presentation of classic CF.