naghi dara

The gastrointestinal (GI) tract can be affected by immunodeficiency disorders. This study aimed to evaluate GI manifestations in children with immunodeficiency.

This cross-sectional study retrospectively evaluated immunodeficient children. Demographics, immunodeficiency disorders, clinical signs and symptoms, upper endoscopy and colonoscopy findings, histopathologic and imaging findings, and laboratory test results were extracted from the patients' medical records. Participants were selected from medical records at Mofid Children's Hospital, Tehran, Iran, from 2011 to 2022, a tertiary care hospital for pediatrics with immunodeficiency disorders.

Of the 43 children with immunodeficiency evaluated in this study (mean age: 3.89 ± 4.32 years), 25 (58.1%) were male, and 18 (41.8%) were female. The most common immunodeficiency disorder was combined immunodeficiency (CID) in 11 patients (25.6%), followed by severe combined immunodeficiency (SCID) in 6 (14%). The most frequent clinical manifestations were diarrhea in 24 patients (55.8%) and vomiting in 21 (48.8%). Erythema of the esophagus (3/14), stomach (5/14), and duodenum (3/14) was the most common finding of upper endoscopy. Nodularity of the colon (4/11) and erythema of the rectum (4/11) were the most frequently observed findings in colonoscopy. The most frequently observed histopathologic findings were chronic esophagitis, chronic gastritis, chronic inflammation in the duodenum, and increased/enlarged lymphoid follicles in the colon and rectum. Abdominal computed tomography (CT) and ultrasound (US) revealed splenomegaly and hepatomegaly as the most frequent findings (4.6% and 20.9%, respectively).

The GI manifestations were common in children with immunodeficiency, with diarrhea and vomiting as the predominant symptoms.

 Non-alcoholic fatty liver disease (NAFLD) occurs with the pathological accumulation of fat in the liver and is one of the most common liver disorders worldwide among adults and even children. Obesity is a risk factor for NAFLD.

 Considering the increasing prevalence of obesity in Iran and worldwide, this study was conducted to determine the prevalence of NAFLD and its related factors in overweight and obese students of schools in Tehran, Iran.

 This cross-sectional study was performed on 115 overweight and obese students [body mass index (BMI) ≥ 25] with an age range of 7 - 17 years. Eligible individuals were classified into two groups with and without NAFLD. Liver ultrasonography and measurement of serum parameters, including fasting blood sugar, lipid profile, and liver enzymes, were performed. Next, the demographic and anthropometric characteristics were compared between the two groups.

 Out of 115 studied students, 71 subjects were boys (61.7%). The results showed that the mean BMI in patients with fatty liver was significantly higher than in individuals without fatty liver (P = 0.03). According to our findings, the mean total cholesterol in NAFLD patients was significantly higher than in the group without NAFLD (P = 0.008). The univariate logistic regression model results for measuring factors related to fatty liver in students showed a significant positive correlation between male gender, BMI, total cholesterol, aspartate aminotransferase, and alanine aminotransferase.

 NAFLD is a substantial problem in school children and correlates with elevated BMI. Therefore, the measurement of BMI can be used as a useful predictor and screening tool for NAFLD in school children.

 Some studies have shown that low vitamin D is a risk factor for infectious diarrhea, but some have rejected it.

 Considering the high prevalence of infectious diarrhea among children, the high prevalence of vitamin D deficiency, and the possible mutual effect of these two, the present study aimed to measure vitamin D in children with acute diarrhea.

 This study enrolled 222 children aged 2 - 14 in healthy control and acute diarrhea groups. The 25-hydroxyvitamin D (25(OH)D) level was measured in all samples by the Chemiluminescent Immunoassays (CLIA) method.

 The mean age of the participants was 5 ± 2.7 years. Patients with acute diarrhea had lower vitamin D than healthy controls (P = 0.04). The frequency of deficient and insufficient vitamin D levels was higher in the acute diarrhea group than in the healthy control group, but insignificantly (P = 0.146).

 The present study revealed an association between insufficient vitamin D and acute diarrhea. Hence, low vitamin D is a risk factor for acute diarrhea.

Helicobacter pylori, is a major etiologic agent associated with gastritis. There is more evidence of noncoding microRNAs (miRs) dysregulation in gastrointestinal diseases, including inflammation caused by Helicobacter pylori. Also, the classification of gastrointestinal malignancies using the miRs profile is better than the protein profile. MiRNA-155(miRNA-155) among other miRs plays an important role in control of inflammation and gastric malignancy, so it can be remarkable prognosis marker of gastric cancer in the phase of chronic gastritis. The aim of this study was to compare the expression of miRNA-155 in gastric biopsy and serum samples of adult patients with chronic gastritis.

Biopsy and blood samples were collected from endoscopy candidates at Taleghani hospital, Tehran, during 2019. H. pylori infection was detected using histology, culture and molecular PCR methods. Based on cagA and vacA genotyping, the toxicity of H. pylori isolates were determined. After RNA extraction, the expression rate of miRNA-155 was evaluated by real-time polymerase chain reaction (RT-PCR) in gastric tissue and serum of adults infected by H. pylori (n = 30) compared with control group without infection (n = 20). RNU6 housekeeping miRNA were used as endogenous control and statistical analyses were performed using SPSS, ANOVA and Student’s t-test.

miRNA-155 expression in H. pylori infected adult patients increased significantly by 5.61 and 10.11 fold in serum and tissue respectively, compared to that observed in the control group. Evaluation of miRNA-155 expression pattern in relation to bacterial virulence factors showed that the increase in miRNA-155 expression is independent of CagA and VacA toxins.

According to the differential expression patterns of miRNA-155 in serum samples of the infected adult patients, miRNA-155 has the potential to evaluate as chronic gastritis marker.

Acute diarrhea in children with an annual prevalence of about 2 billion episodes accounts for 1.9 million deaths in developing countries. According to the World Health Organization (WHO), only 35% of children with diarrhea receive proper treatment for dehydration; hence, the detection of appropriate interventions enables us to prevent mortality and decrease the morbidity rate.

This prospective randomized clinical trial was conducted from September 2018 to May 2019 in the Pediatric Gastroenterology Ward at the Mofid Children’s Hospital, where 95 children were hospitalized with non-exudative acute gastroenteritis and moderate to severe dehydration. Among these patients, 53 children were administered intravenous (IV) fluid therapy and oral rehydration solution (ORS), and 42 children received IV rehydration and ORS plus Racecadotril (ORS+R). Daily bowel movements and their consistency were recorded at admission, 24 hours, and 48 hours after hospitalization. All data were analyzed by SPSS software version 25.

There was no statistically meaningful difference between the intervention and control groups in terms of age, gender, and weight. According to the statistical analysis, the dehydration severity was same in both groups, and no difference was revealed between the two groups regarding fever and vomiting. All laboratory findings were similar in both groups at the time of admission. Although the average duration of diarrhea was shorter in the racecadotril group than in the control group, there was no statistically significant difference between the two groups. The results indicated a rapid decline in the number of bowel movements by the first and second days after beginning of the treatment in both groups; however, no statistically meaningful difference was noticed. The present results indicated no significant difference between the two groups regarding the recovery rate in the first 24 hours of treatment. Moreover, although the recovery rate of children treated for 48 hours was faster in the racecadotril+ORS group than in the oral rehydration group, no significant difference was revealed.

There was no meaningful relationship between the administration of racecadotril with the duration of diarrhea, the frequency of diarrhea, and the recovery rate in the first and second days after treatment. However, in 24 and 48 hours after treatment, there were a decrease in the number of watery stools and an increase in solid stools; hence, further studies with larger sample sizes and more accurate measurements determining factors affecting acute diarrhea and differentiating different types of diarrhea are recommended to further illustrate the role of racecadotril on the treatment of diarrhea in children

Malnutrition undermines the beneficial outcomes of clinical interventions and also increases hospital costs. Therefore, this study aimed to estimate the prevalence of malnutrition through a multicenter observational study at the time of admission and discharge in Iranian hospitalized children and adolescents.
The present cross-sectional study was performed on children and adolescents aged one month to 18 years from three Iranian public tertiary pediatric hospitals located in different cities of Iran. To determine the participants’ nutritional status, Z-score of the weight for height (for those with 1month to 5years of age) and Z-score of BMI (for ≥5 to 18-year-old patients) were calculated using the WHO growth standards. Data were analyzed using SPSS version 23.
Information about 1499 patients was collected. At the time of admission, 64% of the participants had a good nutritional status, 15.5% were at high risk of wasting, 8.4% were wasted, and 12.1% were severely wasted. Among 295 malnourished patients, the nutritional status of 182 patients (63%) had been improved at the time of discharge. Also, 23% of all subjects with normal nutritional status at the admission time (85 participants), were at risk of malnutrition at discharge. The prevalence of moderate and severe malnutrition at the discharge time was about 20%.
More than one-third of the hospitalized children had moderate or severe malnutrition or were at high risk. Although the prevalence of malnutrition decreased somewhat during hospitalization, some children were not malnourished at the time of admission and were malnourished at discharge.

Biliary atresia is a progressive fibro-obliterativecholangiopathy that affects both intrahepatic and extrahepatic biliary ducts causing cholestasis and neonatal jaundice. The use of anti-inflammatory agents such as corticosteroids may decrease inflammation and recurrent stricture.

This clinical trial had been performed on 24 patients admitted to Children’s Hospital with biliary atresia. Prednisolone was not administered in the control group after the operation, but in the intervention group, 2 mg/kg/day of prednisolone was given for 6 weeks and then tapered. Then, its therapeutic effect in the management of biliary atresia was compared.

The mean age of the patients in the case and control groups was 2.19 and 2 months, respectively. Cholangitis (P= 0.3), direct hyperbilirubinemia (P= 0.6), ascites (P= 0.5), pigmented stools (P= 0.7), and esophageal varices (P= 0.1) between the two groups was not significant. But the age of the patients, outcome of treatment (P= 0.05), total hyperbilirubinemia (P= 0.05), growth failure (P=0.03), worsening grade of splenomegaly (P= 0.04), hepatomegaly (P= 0.03), fecal pigmentation (P= 0.003), death (P= 0.01), and portal hypertension (P= 0.02) in two groups were significant.

Regarding the results, corticosteroids have a significant effect on reducing the bilirubin levels, improving the survival rate, and decreasing the mortality rate, although these results are closely related to the patient’s age at the time of surgery.

We report a 22-month-old boy who referred due to nausea, vomiting, abdominal pain and watery non-bloody diarrhea and after thorough evaluation, a large defect in the left postero-lateral side of diaphragm and presence of bowel loops, spleen, stomach and left lobe of liver in the left hemi-thorax were detected. So, he was operated and managed with the impression of Bochdalek hernia. We have also reviewed the similar case reports in the past 10 years, briefly, in order to map the presentations and clinical course of cases with Bochdalek hernia which were diagnosed late, for giving physi-cians a better insight on this issue.

 The congenital intestinal web is a rare cause of small bowel obstruction classified as Type I intestinal atresia. The second portion of the duodenum is the most prevalent site for these webs, whereas the jejunal web is rare.

 Herein, we present a very uncommon late presentation of the jejunal web in an 18-month-old girl complaining of chronic recurrent vomiting, constipation, and failure to thrive (FTT). After thorough investigations, the diagnosis was confirmed by the small bowel follow-through. The surgical procedure resulted in a significant improvement in her quality of life, given the subsequent increase in her weight and height.

 Vomiting that occurs at any age is pathologic and requires careful history taking, thorough clinical examination, and evaluation, especially in patients treated with proton pump inhibitors such as omeprazole for a long time a diagnosis of GERD without any response. In these patients, gastrointestinal abnormalities, including complete or incomplete obstructions such as malrotation and web, should be made in the differential diagnosis.

Considering the allergic basis of Eosinophilic esophagitis (EoE), this study was conducted to evaluate peripheral blood Tregs in children with EoE.

Eosinophilic esophagitis (EoE) is an allergic inflammatory disease of gastrointestinal tract. Regulatory T cells (Tregs) have a confirmed role in allergic disorders.

Children with EoE, gastroesophageal reflux disease (GERD) and healthy controls (HC) (10 subjects in each group) were recruited after diagnosis by a pediatric gastroenterologist and allergist. After obtaining informed written consent, peripheral blood was obtained. Peripheral blood mononuclear cells were isolated by Ficoll gradient centrifugation. Flowcytometry was used to enumerate peripheral blood Tregs (CD4 +CD25+FOXP3+ gated lymphocytes were considered as Tregs).

CD4+ gated lymphocytes significantly increased in EoE and GERD groups compared to HC group (p= 0.018). Tregs also was significantly increased in EoE in comparison to HC group (p=0.016). There were no statistically significant differences in Tregs of EoE as compared to GERD subjects (p=0.085).

Peripheral blood Tregs increase in patients with EoE as compared to healthy controls, which may be indicative of a feedback mechanism to regulate inflammatory responses.

one of the most common reported chief complaints in visits to pediatricians is constipation. Although in a majority of cases with no anatomical defect, dietary manipulation, stool softeners, and oral laxatives are successful, some patients fail to respond.Internal Anal Sphincter (IAS) Achalasia is one of the causes of constipation.It results in failure of IAS relaxation and has similar clinical presentation to Hirschsprung’s disease with absence of rectosphincteric inhibitory reflex on anorectal manometry (ARM) and presence of ganglion cells on rectal biopsy.Although posterior internal anal sphincter myectomy (ISM) is considered the standard treatment for IASA, some cases fail to respond and present with intractable constipation which may be associated with soiling.This research aims to assess the role of botox injection for treatment of patients who presented with intractable constipation and have already beentreated by posterior IAS myectomy.

Internal anal sphincter Botox injection was performed (with a dose of 20 U/Kg) in 14 patients with internal anal sphincter achalasia (IASA); who had presented with intractable constipationafter being treated by posterior internal anal sphincter myectomy. Patients were followed for 2 years after injection.

of all 14 patients with persistent constipation (resistant to oral laxatives), 12 patients (85.7%) had regular bowel function for more than 6 months after botox injection therapy (P < 0.05).Of all 14 patients that had needed rectal enema for defecation, no patient needed rectal enema after botox injection therapy (P < 0.05). Of 5 patients with fecal soiling before botox injection therapy (4 had occasionalsoiling, and 1 had soiling every day without social problems) only a single patient experienced transient fecal soiling for 2 weeks after botox injection therapy (P < 0.05).No patient needed another botox injection in 2 years of follow up.

IAS Botox injection therapy (BIT) was successfully used to manage IASA patients who had presented with intractable constipation after posterior myectomy. This method significantly reduces the need for laxatives and rectal enema; and improves constipation, fecal soiling and bowel movements at the same time.

Coronavirus disease 2019 (COVID-19) is caused by the seventh coronavirus, known as the severe acute respiratory syndrome coronavirus 2(SARS-CoV-2). Children often have milder diseases than adults with very rare mortality. Gastrointestinal manifestations and a mild increase in liver enzymes have been reported in 8.8% to 53% of COVID-19 cases. However, liver failure is extremely rare and has not been reported so far in the literature. The prevalence of comorbidities is not clear in children with COVID-19. Here, we reported a fatal case of simultaneous pneumonia secondary to SARS-CoV-2and acute liver failure in a 14-year-old boy with liver cirrhosis.

A large number of patients who underwent pull-through surgery due to Hirschsprung's disease (HD) were not followed up properly and they suffered from many complications such as fecal soiling, constipation, and etc. Although some of these complications may relief over time, it is rational to consider an evaluative protocol to identify anatomical or pathological complications in these patients.

The aim of the present study is to evaluate and introduce these catastrophic complications.

In this historical cohort study, 193 patients with HD who had undergone pull- through surgery between 2006 to 2013 were considered. All files and questionnaires were used to collect patients' information and patients were physically examined individually. The mean duration of the follow-up was 96.4±17.2 months ranging from 60 to 144 months The follow-up performed for all patients via the outpatient clinics or by telephone. All statistical information was analyzed by SPSS software version 17.

At first presentation, intestinal obstruction was more frequent than constipation. The most common involved segment was in rectosigmoid. The most common early postoperative complication was stricture in anal canal and the most common late complications were constipation and focal soiling.

Although surgical advancements, a large number of patients underwent surgical procedures due to HD experience long term complications. Surgical treatment of HD generally present with high-quality outcome and the majority of children survive in satisfactory situation for long time but occasionally pediatric surgeons meet head-on catastrophic complication in these patients that require extended team work to be resolved

Hepatic involvement in Wilson disease consists of isolated elevated liver enzyme, asymptomatic hepatomegaly, cirrhosis and acute liver failure. Here, we report three patients with unexplained elevated liver enzymes. By considering the level of urinary excretion of copper after penicillamine challenge test, we had some problems in the process of diagnosis. Therefore, we thought of cautiously applying the diagnostic cut-off in the mentioned challenge test.

Here is a case of a 6-year-old female with a diagnosis of Duodenal Adenocarcinoma presented by the authors, in which 24 months subsequent to radiation therapy for a Cerebellar Medulloblastomas the mentioned diagnosis has been confirmed. Although the chance of a secondary malignancy has been confirmed to become elevated in children formerly undergone radiation therapy, the incidence of duodenal adenocar-cinoma is a highly infrequent condition. As a consideration, observing manifestations like weight loss, vomiting, and icterus in a pediatric patient, who has been administered earlier on with radiation therapy, must alert physicians that the risk of a gastrointestinal malignancy exists.

Autoimmune pancreatitis as chronic inflammation of the pancreas due to an autoim-mune mechanism is a rare type of pancreatitis. A 14 years old girl presented with mul-tiple episodes of abdominal pain, nausea with elevation of amylase and lipase sus-picions of acute recurrent pancreatitis since 3 years of age. After through evaluation about secondary causes of recurrent and familial pancreatitis finally she responded to corticosteroid treatment. Although very rare but autoimmune processes should be considered in teenagers with recurrent pancreatitis.

To improve the knowledge on Coronavirus Disease (COVID-19) infection, we aimed to study the prevalence of gastrointestinal symptoms and the dynamics of liver enzymes in children infected with COVID-19.

We performed a systematic search of all the articles published up to May 2020 in the following databases: PubMed-MEDLINE, Scopus, and Cochrane. We chose the fixed- or random-effect model for analysis based on the I2 statistic. The included data were analyzed to identify the prevalence of gastrointestinal symptoms (diarrhea, vomiting or nausea) and to identify the dynamics of liver enzymes in children and adolescents diagnosed with COVID-19.

We detected an overall prevalence of all gastrointestinal symptoms of 26% (95% CI: 0.18 - 0.35). The pooled prevalence of diarrhea and nausea/vomiting was 12% (95% CI: 0.08 - 0.16) with no heterogeneity (P = 0.19; I2 = 23.53%) and 11% (95% CI: 0.05 - 0.17), respectively. The pooled prevalence of elevated ALT and AST and LDH was 12% (95% CI: 0.07 - 0.17), 14% (95% CI: 0.10 - 0.18) and 33% (95% CI: 0.12 - 0.54), respectively among the included studies.

According to our systematic review and meta-analysis, 26% of the children and adolescents diagnosed with COVID-19 present gastrointestinal symptoms. This paper has provided a comprehensive overview of the prevalence of digestive symptoms of COVID-19 and of the liver enzymes dynamics in children and adolescents.

Malnutrition is one of the most common disorders among children with Cystic Fibrosis (CF). The present study aimed to investigate the effect of nutritional consultation on the type and severity of malnutrition in children with CF. This quasi-experimental study was conducted on 78 children with CF referred to Mofid Pediatric Hospital, Tehran, Iran, in 2017-2018. Their parents filled the demographic questionnaire. Participants with malnutrition were undergoing the assessment on growth indices, including weight, height, ideal body weight, mid-upper arm circumference, and Z-score. Moreover, the nutritional consultations were considered for them (30-45 minutes). Children and their parents were consulted and trained about total daily calorie acquirement, type, number of the meal, amount of food intake, drinks, and avoided eating of any low-calorie food like snacks, during the consultation. All patients were reassessed three months later for growth indices. The data were analyzed using SPSS software version 22.0. We assessed 78 children with CF, 21 (26%) of them had mild, 26 (34%) moderate malnutrition, and 31 (40%) severe malnutrition. The result showed that nutritional intervention was effective. Consequently, 1 (3.8%) of the moderately malnourished child was improved to mild malnutrition and 5 (27.8%) children under five years old were improved from severe to moderate malnutrition. Moreover, 1 (5.6%) child were improved from severe to mild, and 2 (15.4%) of children over five years old were improved from severe to moderate malnutrition. According to the results, the early growth assessment in hospitalized and outpatient, diagnosis of malnutrition and nutritional interventionwill be useful in improving the severity of malnutrition and growth indices in children with CF.

Prevention of noncommunicable diseases (NCDs) during pregnancy is recommended due to severe complications for mothers and infants. Considering that NCDs have a significant impact on infant mortality, this study was conducted to investigate the relationship between mothers’ underlying diseases and gestational diabetes and infant mortality in Iran.

Mothers who referred to the health centers in nine provinces of Iran were included. This case–control study used data collected from pregnant women. There were 1162 cases and 1624 controls. The required data were collected from mothers’ health records and through interviews.

The chances of neonatal mortality in women with a body mass index (BMI) of 30–35, 1.7 times (odds ratio [OR] = 1.7, confidence interval [CI]: 1.19–2.44, P = 0.003) was higher compared with women with a normal BMI. The chance of neonatal mortality among mothers with high blood pressure was three times higher compared with healthy mothers (OR = 3.04, 95% CI: 1.98–4.65, P < 0.001). The chance of neonatal mortality in women with kidney disease was also 1.64 times higher than mothers without kidney problems (OR = 1.64, 95% CI: 1.1–2.45, P = 0.015). In the study of gestational diabetes, the chance of neonatal mortality among the mothers who had at risk was 1.63 times higher than mothers without gestational diabetes (OR = 1.63, 95% CI: 0.84–3.16, P = 0.014). Furthermore, the chance of neonatal mortality among the mothers who had heart disease was 1.10 times higher than mothers without heart disease (OR = 2.10, 95% CI: 0.88–4.99, P = 0.014).

This study showed that undiagnosed underlying diseases were related to neonatal mortality, which highlights the importance of caring for and counseling about the underlying diseases, screening, and controlling blood sugar levels before and during pregnancy to prevent infant mortality by all means possible.

Neonatal death is defined as death at any point in time during the first four weeks of life. It is one of the most important criteria used to evaluate the effectiveness of interventions in public areas. We aimed to investigate pre-pregnancy risk factors associated with neonatal death.

This population-based case-control study was conducted in eight provinces and two cities of Iran in 2,788 mothers referred to health care centers during 2015 to 2018. Participants were divided into two cases (1162), and control (1626) groups. Expert staff to interview the participants for case and control groups used a structural interview checklist based on the same protocol. We evaluate the association factor between neonatal mortality, the dependent variable, and the maternal demographic and health status characteristics. Data collection was a multi-stage cluster sampling method. Expert staff interviewed parents to collect data based on the same protocol for case and control groups.

This study was conducted on 2,788 participants, 90% of cases (n=1162), and 94% of controls (n=1626) were under 35 years of age. The chance of neonatal death was higher in Kurdish mothers [OR: 2.02; 95% CI (1.1 – 4.16)], mothers with low level illiteracy [OR: 1.82; 95% CI (1.01 – 3.27)], mothers with previous stillbirth [OR: 8.84; 95% CI (5.88 – 13.29)], using contraceptives [OR: 1.66; 95% CI (1.33- 2.06)], and passive smokers [OR: 1.49; 95% CI (1.20 – 1.86)].

Based on the results, maternal educational level, maternal body mass index, ethnicity, using contraceptives, pregnancy intervals, and history of stillbirth, abortion, and passive smoking were associated with neonatal mortality.

Broncho-esophageal fistula (BEF) is a rare congenital anomaly affecting the respiratory and upper gastrointestinal tract. The rarity makes its timely diagnosis very challenging. This study presents a rare case of missed congenital BEF in a six-year-old girl with repaired esophageal atresia in the neonatal period suffering from recurrent respiratory symptoms, choking, and respiratory distress following eating, resulting in vomiting or regurgitation for three years before admission. While the contrast esophagography and endoscopy had failed to diagnose her problem, the methylene blue test via an esophageal catheter observed by fiberoptic bronchoscopy could detect the presence of BEF reliably in the present case. Presenting this case can raise physicians’ knowledge of the diagnostic role of methylene blue test via fiberoptic bronchoscopy.

Inflammatory bowel disease (IBD) with very early onset manifestations (younger than six years of age) is an essential pediatric gastrointestinal disease that encompasses a group of diverse and rare genetic defects. It may be associated with chronicity, premalignant nature, and high morbidity and mortality during childhood. Because of overlapping phenotypes, the definitive diagnosis based on conventional strategies is frequently a challenge. However, many patients with different molecular pathologies are treated with the same therapeutic strategy. In this context, it is essential to define a more reliable method to provide an opportunity for a rapid and accurate diagnosis. Here we report a novel homozygous exonic variant in a patient with an IBD-like lesion in the colon during the infancy period. A 7 months old boy who was born of a consanguineous marriage developed gastrointestinal disorders early in life. After complete diagnostic workups, this case underwent conventional therapy of IBD for five months; but clinical remission was not achieved. We identified a novel homozygous mutation (c.684C>T p. (=)) in exon 7 of IL-12RB1 gene that in silico studies indicated its significance in the splicing process. At the 14th month of age, this case died. Our finding reveals the importance of genetic screening as an early diagnostic tool in the identification of the underlying causes of IBD with very early onset manifestations, particularly infantile (< 2 years of age) IBD. This strategy makes an opportunity in prompt diagnosis and targeted therapy.

Eosinophilic Gastrointestinal Disorders (EGID) are a heterogeneous group of gastrointestinal disorders, associated with an increase of the eosinophils in the gastrointestinal mucosal tissue. Regulatory T cells (Tregs), as a subset of T cells, have a proven prominent role in immunopathology and protection against allergic diseases. Also, they appear to play a role in EGID pathogenesis. In the present study, serum levels of Tumor Growth Factor (TGF)-β and interleukin (IL)-10 were measured in patients with EGID compared to patients with Gastroesophageal Reflux Disease (GERD) and healthy subjects. A total of 34 patients with EGID, 23 with GERD, and 25 healthy controls were included in the study. The diagnoses of EGID and GERD were made based on the patients’ clinical symptoms, endoscopic findings, and biopsy confirmation. A questionnaire of demographic information, allergy history, as well as endoscopic-pathological and skin prick test results were completed and performed. The serum levels of TGF-β and IL-10 were measured using the ELISA method. Family history of allergic disorders in patients with EGID or GERD was significantly high compared to healthy controls (P=0.010, P=0.005, respectively). There was a statistically significant increase in serum levels of TGF-β1 (P=0.025), but no significant difference was observed in serum level of IL-10 among three groups. However, the serum level of IL-10 was significantly high in a subgroup of patients with upper gastrointestinal eosinophilic involvement compared to the healthy controls (P=0.018). Significant increase in the serum level of IL-10 and TGF- β might be due to the Tregs dysfunction in EGID patients. Further studies should determine the role of Tregs in the pathogenesis of EGID.

Given the important role of amino acids in regulating many metabolic pathways of the body and considering the scarcity of markers for the diagnosis of inflammatory bowel disease (IBD) and its differentiation, we aimed to investigate the status of serum amino acids chromatography in children with IBD.
This case-control study was conducted among children with primary diagnosis of IBD who referred to Mofid Children's hospital in Tehran, Iran. Children with a definite diagnosis of chronic IBD on the basis of endoscopy and biopsy were enrolled. In addition, 100 children without any history of predisposing, chronic, or inflammatory disease who referred to the same hospital during the period of the study were also selected. All samples underwent serum amino acids chromatography via HPLC method.
Of all the patients in the IBD group, 18 patients (18%) suffered from Crohn's disease and 82 patients (82%) had ulcerative colitis; the disease was active in 54 patients (54%). The results of serum amino acids chromatography showed that several amino acids were significantly higher in patients with IBD. Considering the normal serum levels of amino acids, only the levels of two amino acids of histidine and tryptophan were significantly different in the IBD group compared the control group. In total, of all the subjects, 30 children (15%) had abnormal amino acid serum chromatography; hence, its prevalence was significantly higher in the IBD group (P=0.048).
The current study showed that serum amino acid chromatography in children with IBD were different from that in healthy children. More specifically, the decrease in tryptophan level was more observed in patients with active disease.

Wilson's disease (WD) is a genetic disorder with various clinical presentations due to excessive accumulation of copper in the liver and other organs. It can present as acute/chronic hepatitis, liver failure, extrahepatic and neuromuscular manifestations. Autoimmune hepatitis (AIH) is a necroinflammatory disease of the liver, which affects a lot of people particularly the children population. AIH has a broad clinical presentation that is similar to WD. Coexistence of WD with elevated creatinine phosphokinase (CPK) and AIH, may be a diagnostic dilemma.
Case Report: We presented a 6 years old boy with dysarthria, aggressive behavior, weak attention, concentration and weight loss with abnormal physical examination. Laboratory, histochemical, genomic studies, muscle/liver biopsy and atomic absorption test confirmed the diagnosis of both WD and AIH in the boy.
Although CPK and liver enzyme elevation is a rare presentation of chronic hepatitis with dominant feature of WD and AIH; however, simultaneous therapy with immunosuppressive drugs and Penicillamine may have superior benefit with a significant response.