Early age onset familial Mediterranean fever associated with compound heterozygote M680I /M694V mutation

Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by acute episodes of fever accompanied by severe abdominal pain, pleurisy, arthritis, and skin rash. The clinicalvariability of the disease has been mainly attributed to MEFV gene allelic heterogeneity and partly to the influence of additional genetic and/or environmental factors. We present a 6-month-old boy who suffered from recurrent fever accompanied by abdominal pain and skin rashes. Molecular screening by polymerase chain reaction (PCR) and sequencing for common mutations causing FMF revealed presence of a 694V/680I compound heterozygote mutation in exon 10 of the related gene. This is thefirst report of early onset and severe phenotype FMF case associated with a 694V/680I compound heterozygote mutation

Functional constipation in children: does maternal personality matter?

<p>Abstract</p> <p>Aim</p> <p>To identify personality dimensions of mothers with a constipated child and compare it with those mothers of children without defecation problems.</p> <p>Methods</p> <p>We compared mothers of 150 children with functional constipation to mothers of 150 children with no such a problem attending to pediatric hospital of Tabriz University of medical sciences. Personality dimensions were evaluated by NEO five factor inventory after excluding any psychiatric disorders by an interview.</p> <p>Results</p> <p>Mean age (SD) was 28.8(18.6) months in constipated children and 20.0(19.3) months in controls, 54.6% of constipated children and 56.7% of controls were male. Mean age (SD) was 30.9(7.1) years in mothers of children with functional constipation and 30.1(7.6) years in controls.</p> <p>Mothers of children with functional constipation scored lower in neuroticism and scored higher in extraversion, conscientiousness and agreeableness. Conscientiousness was the dominant dimension of personality in both groups.</p> <p>Conclusion</p> <p>Our results suggest the maternal personality as a factor to directly influence toileting behavior of their children resulting in functional constipation.</p

Fatty liver in children

Mandana Rafeey1, Fakhrossadat Mortazavi2, Nafiseh Mogaddasi2, Ghergherehchi Robabeh2, Shamsi Ghaffari2, Alka Hasani31Liver and gastrointestinal Research Center; 2Tabriz University (Medical Science) Tabriz, Iran; 3Research Center of Infectious Diseases and Tropical MedicineAims: The aim of this study is to investigate the clinical and laboratory characteristics of nonalcoholic fatty liver disease (NAFLD) in a referral center of pediatrics in the northwest of Iran.Methods: In this cross-sectional study all subjects aged between six months to 15 years that were referred to the sonography unit, were investigated for fatty liver from March 2005 to August 2006. Patients with fatty liver change underwent detailed clinical and laboratory evaluation.Results: From 1500 children who were investigated, 34 subjects with sonographic evidence of fatty liver were enrolled in this study (2.3%). The mean age was 6.53 &amp;plusmn; 3.07 years. Elevated aspartate aminotransferase and alanine aminotransferase was detected in 38.2% and 47.1% of patients, respectively. The mean level of cholesterol was 461 &amp;plusmn; 182.23 mg/dl and 94.1% of patients had hypercholesterolemia. Total cholesterol level and serum aminotransferase levels had a significant positive correlation with severity of fatty liver (p &amp;lt; 0.05). Mean body mass index was significantly higher in patients with severe fatty liver (p &amp;lt; 0.05).Conclusion: The epidemiology of pediatric NAFLD should inform future attempts to develop evaluated screening protocols. Moreover, these data should guide efforts to delineate the pathophysiology of fatty liver in children.Keywords: nonalcoholic fatty liver disease, steatohepatitis, obesity, childre

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

PurposeGastroesophageal 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.MethodsThis 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.ResultsWe 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.ConclusionThe 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

Correlation between maternal and cord blood leptin and fetal growth

Leptin is a protein secreted mainly by the adipocyte in proportion to fat mass. The serum leptin concentration reflects the amount of adipose tissue in the body and has potential role on the fat deposition in the fetus. In the present study, we investigated whether umbilical and maternal serum leptin concentrations correlate with fetal growth. In addition, we determined the relationship between leptin concentration in the maternal and cord blood. We studied 100 newborn infants (48 female and 52 male; gestational age, 34 - 40 weeks) and their mothers at Alzahra hospital in Tabriz city. Serum leptin concentrations were measured by ELISA and linear regression analysis was used to evaluate correlation. In the results, there was no significant correlation between umbilical and maternal leptin concentrations (r = 0.011; p = 0.459) in all study groups. There was a correlation between umbilicalleptin concentration and birth weight of newborns (r = 0.278; p = 0.003) and correlation with body mass index (BMI) of the newborns (r = 0.249; p = 0.006). Maternal leptin concentrations correlated withmaternal weight and BMI (r = 0.277; p = 0.003, r = 0.290; p = 0.002, respectively). There was no correlation between maternal leptin concentrations and birth weight (r = - 0.162; p = 0.054) and with BMIof the newborns (r = - 0.158; p = 0.058). There was gender difference in leptin concentrations in the newborns (r = 0.331; p = 0.00025) with greater level in females. In conclusion, we have shown that theassociation between umbilical serum leptin and birth weight in this and other studies suggests a pivotal role of fetal leptin in regulating fetal growth and development

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

Background &amp; 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 &lt; 0.0001) and MUAC (between −1.8 and −2 SD, p &lt; 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

Immunologic aspects of patients with disseminated bacille Calmette-Guerin disease in north-west of Iran

<p>Abstract</p> <p>Background</p> <p>Adverse reactions induced by BCG vaccination are rare, disseminated mycobacterial BCG infection in particular, which is often fatal and results from impaired immunity. The aim of this study is to determine the nature of the immunodeficiences in patients with disseminated BCG infection in northwest region of Iran.</p> <p>Materials and methods</p> <p>Through 2 years all infants with BCG adenitis or other complications of this vaccine that had suspicious BCG infection were referred to children's hospital and health centers of Tabriz.</p> <p>Evaluation of immune system and in some cases genetic survey was performed in infants with evidence of histopathologic demonstration of acid-fast bacilli. Then frequency of infants who had disseminated BCG infection with immunodeficiency was defined.</p> <p>Results</p> <p>From 48 selected infants with complications of BCG vaccine in the range of 2 to 62 months, 28 infants (58.3%) were male and 20 infants (41.7%) were female. Disseminated BCG infection was diagnosed in 11 cases, almost all of whom had immunodeficiency as follows:</p> <p>Seven cases had severe combined immunodeficiency and one cases had chronic granulomatous disease. MSMD in two cases and IL12 R deficiency in another one was diagnosed.</p> <p>Overall, the mortality rate was 72.8% (8 cases) which 7 cases of them were SCID and another one CGD</p> <p>Consanguineous was found in more than half (7 cases) of patients and family history of disseminated BCG infection or immunodeficiency was found in nearly one third (3 cases) of patients.</p> <p>Discussion</p> <p>BCG vaccine is administered world wide to prevent tuberculosis and is considered to have excellent safety profile. However in some immunodeficient patients it can cause severe and fatal complications, like in our region, where all cases of disseminated BCG infection with severe immunodeficiency died.</p> <p>Conclusion</p> <p>BCG vaccination is necessary in some countries such as Iran, so it seems that development of a more safer vaccine and change of vaccine program in the families with history of inherited immunodeficiency can be identifies such high risk infants and prophylaxis of severe complications or dead in such patients.</p

Systematic review with meta-analysis: the efficacy of tranexamic acid in upper gastrointestinal bleeding

Summary Background: Upper gastrointestinal bleeding is a common medical emergency associated with substantial mortality. Tranexamic acid may be effective for reducing mortality in upper gastrointestinal bleeding. Aim: To examine the effects of tranexamic acid in upper gastrointestinal bleeding by systematic review and meta-analysis. Methods: We searched PubMed, EMBASE, CINAHL, the Cochrane Central Register of Controlled Trials (CENTRAL) and other relevant websites for randomised controlled trials investigating the effect of tranexamic acid published from inception to December 10, 2019. The primary outcome of interest was mortality. Estimates of effect were pooled with a random effects model. Quality of evidence was assessed using the Grading of Recommendations, Assessment, Development, and Evaluations (GRADE) approach. Results: The search identified 1572 citations. Eleven trials comprising 2076 patients were eligible for inclusion. Of these, 10 trials (2013 patients) compared tranexamic acid with placebo. Risk of death was significantly reduced in patients who received tranexamic acid compared with those who received placebo (RR 0.59, 95% CI 0.43- 0.82, P = 0.001) with no significant heterogeneity noted among studies (I2 = 0%, P = 0.81). The GRADE assessment rated the quality of the evidence for mortality as moderate due to risk of bias. There were no statistically significant differences between tranexamic acid and placebo for the prevention of re-bleeding, need for surgical interventions, need for blood transfusions or frequency of thromboembolic events. Conclusions: Moderate-quality evidence shows that tranexamic acid is superior to placebo for the reduction in mortality in patients with upper gastrointestinal bleeding. While our findings lend further support to the use of tranexamic acid for treating patients with upper gastrointestinal bleeding, additional higher-quality trials are needed