Relapse Rate of Clinical Symptoms After Stopping Treatment in Children with Cyclic Vomiting Syndrome.

Background: Cyclic vomiting syndrome (CVS) is a chronic functional gastrointestinal disorder. It is characterized by recurrent episodes of vomiting typically separated by periods of symptom-free or baseline health. The present study aimed at evaluating the effectiveness of propranolol and the relapse rate of clinical symptoms after stopping treatment in children suffering from CVS. Methods: Records of 504 patients below the age of 18 years with CVS who were treated with propranolol from March 2008 to March 2018 were reviewed. The duration of follow-up was 10 years. Results: The average age of CVS affliction was 4.3 years and the average age at the diagnosis was 5.8 years. All subjects were treated with propranolol (for an average of 10 months). 92% of treated subjects were cured, causing a dramatic decrease in the rate of vomiting (P < 0.001). Only an average of 10.5% of the studied subjects (53 people) showed a relapse of symptoms after stopping the treatment. The results of a 10-year follow-up period of the patients showed that 24 had abdominal migraine and 6 had migraine headaches, all of whom lacked the symptoms of disease relapse (prognostic evaluation). Conclusion: The findings of this investigation show that the duration of treating CVS with propranolol could be shortened to 10 months with a low percent of symptoms relapse and this shortening may be effective in preventing the undesirable side effects of the drug. The presence of abdominal migraine and migraine headaches in patients after treatment accomplishment and the lack of disease relapse can be prognostic measures for this disease, which require intensive attention.

Evaluation of Outcomes and Complications of Large Volume Paracentesis without Albumin and Coagulopathy Therapy in Pediatrics with Severe Ascites.

Background: Large-volume paracentesis has become the first treatment choice for patients with severe and refractory ascites. The studies have reported several complications after therapeutic paracentesis. But there are few published data on the complications with or without Albumin therapy. We aimed to analyze the safety and complications of large-volume paracentesis in children with or without albumin therapy. Methods: This study was conducted on children with severe ascites with chronic liver disease who underwent large-volume paracentesis. They were divided into albumin-infused and albumin non-infused groups. In the case of coagulopathy, no adjustment was made. Albumin was not administered after the procedure. The outcomes were monitored to evaluate the complications. To compare two groups, a t-test was utilized, and the ANOVA test was used to compare several groups. If the requirements for using these tests were not met, Mann-Whitney and Kruskal-Wallis tests were applied. Results: Decreased heart rate was observed in all time intervals and was meaningful six days after paracentesis. MAP also decreased statistically at 48 hours and six days after the procedure (P < 0.05). Other variables did not show any meaningful change. Conclusion: Children having tense ascites with thrombocytopenia, prolonged PT, Child-Pugh class C, and encephalopathy can undergo large-volume paracentesis without any complication. Albumin administration before the procedure in patients with low levels of Albumin (<2.9) can effectively overcome the problems of tachycardia and increased mean arterial pressure. There will be no need for Albumin administration after paracentesis.

Identification of a novel mutation in the ALDOB gene in hereditary fructose intolerance.

OBJECTIVES: Hereditary fructose intolerance (HFI) is caused by aldolase B enzyme deficiency. There has been no report about HFI from Iran and the type of mutations has not been reported in the Iranian population so far. CASE PRESENTATION: Herein we report a 2 year old girl presented with failure to thrive, hepatomegaly, and liver dysfunction. The primary impression has been hepatic glycogen storage disease type 1 or 6. This diagnosis was not confirmed by laboratory data and liver biopsy. Therefore, targeted-gene sequencing (TGS) covering 450 genes involved in inborn errors in metabolic diseases was performed. The results of TGS showed a rare novel homozygous pathogenic variant c.944del (p.Gly315ValfsTer15) in the ALDOB gene. CONCLUSIONS: This report introduces a novel variant that expands the mutational spectrum of the ALDOB gene in patients with HFI.

Clinical and laboratory data in pediatric autoimmune hepatitis: study from referral center in Iran.

BACKGROUND: Autoimmune hepatitis (AIH) is an auto-inflammatory liver disease of children and adults, affecting patients of any age, sex, race or ethnicity, with more prevalence in females. OBJECTIVE: The aim of this study was to evaluate clinical manifestation, laboratory findings, and outcome of children with autoimmune hepatitis. MATERIALS AND METHODS: We evaluated 86 patients treated and followed with final diagnosis of AIH between years 2010 to 2018. Physical findings (including jaundice, hepatomegaly, splenomegaly and encephalopathy), liver enzymes, liver histology and autoantibodies (including ANA, Anti LKM-1 and ASMA) were extracted from medical files. Then the patients were followed for their final outcome (including response to medical treatment or successful treatment withdrawal, liver transplantation or death). RESULTS: Among 86 patients with AIH with mean age 9.10±4.36 years old, 66.27% were females. Jaundice (75.6%) and hepatomegaly (46.5%) were the most frequent physical findings, followed by splenomegaly (32.6%) and encephalopathy (17.4%). Aminotransferases including AST and ALT were elevated at least 3 times more than upper limit of normal in most of the patients (61.6% and 55.81%, respectively). Autoantibodies were available in 53 of 86 patients, 24.5% had AIH-1, 3.8% had AIH-II and 67.9% were seronegative. Medical treatment including prednisolone and azathioprine was started for patients, 53 of 86 cases (61.6%) had remission and 11 of 86 (13.7%) tolerated medication withdrawal successfully. Among all cases, 26 (30.2%) patients needed liver transplantation. Mortality rate was 9 among 86 cases (10.5%). CONCLUSION: Jaundice and hepatomegaly was the most frequent clinical findings. Mortality rate was 10.5.

Clinical and laboratory data in pediatric autoimmune hepatitis: study from referral center in Iran / Datos clínicos y de laboratorio en hepatitis autoinmune pediátrica: estudio del centro de referencia en Irán

ABSTARCT Background : Autoimmune hepatitis (AIH) is an auto-inflammatory liver disease of children and adults, affecting patients of any age, sex, race or ethnicity, with more prevalence in females. Objective : The aim of this study was to evaluate clinical manifestation, laboratory findings, and outcome of children with autoimmune hepatitis. Materials and methods : We evaluated 86 patients treated and followed with final diagnosis of AIH between years 2010 to 2018. Physical findings (including jaundice, hepatomegaly, splenomegaly and encephalopathy), liver enzymes, liver histology and autoantibodies (including ANA, Anti LKM-1 and ASMA) were extracted from medical files. Then the patients were followed for their final outcome (including response to medical treatment or successful treatment withdrawal, liver transplantation or death). Results : Among 86 patients with AIH with mean age 9.10±4.36 years old, 66.27% were females. Jaundice (75.6%) and hepatomegaly (46.5%) were the most frequent physical findings, followed by splenomegaly (32.6%) and encephalopathy (17.4%). Aminotransferases including AST and ALT were elevated at least 3 times more than upper limit of normal in most of the patients (61.6% and 55.81%, respectively). Autoantibodies were available in 53 of 86 patients, 24.5% had AIH-1, 3.8% had AIH-II and 67.9% were seronegative. Medical treatment including prednisolone and azathioprine was started for patients, 53 of 86 cases (61.6%) had remission and 11 of 86 (13.7%) tolerated medication withdrawal successfully. Among all cases, 26 (30.2%) patients needed liver transplantation. Mortality rate was 9 among 86 cases (10.5%). Conclusion : Jaundice and hepatomegaly was the most frequent clinical findings. Mortality rate was 10.5%.

RESUMEN Antecedentes : La hepatitis autoinmune (AIH) es una enfermedad hepática autoinflamatoria de niños y adultos, que afecta a pacientes de cualquier edad, sexo, raza u origen étnico, con mayor prevalencia en las mujeres. Objetivo : El objetivo de este estudio fue evaluar la manifestación clínica, los hallazgos de laboratorio y el resultado de los niños con hepatitis autoinmune. Materiales y métodos : Evaluamos 86 pacientes tratados y seguidos con el diagnóstico final de AIH entre los años 2010 a 2018. Los hallazgos físicos (incluyendo ictericia, hepatomegalia, esplenomegalia y encefalopatía), enzimas hepáticas, histología hepática y autoanticuerpos (incluidos ANA, Anti LKM-1 y ASMA) se extrajeron de las historias médicas. Luego, los pacientes fueron seguidos para su resultado final (incluida la respuesta al tratamiento médico o la retirada exitosa del tratamiento, el trasplante de hígado o la muerte). Resultados : Entre 86 pacientes con AIH con una edad media de 9,10 ± 4,36 años, el 66,27% eran mujeres. La ictericia (75,6%) y la hepatomegalia (46,5%) fueron los hallazgos físicos más frecuentes, seguidos de esplenomegalia (32,6%) y encefalopatía (17,4%). Las aminotransferasas que incluyen AST y ALT se elevaron al menos 3 veces más que el límite superior de la normalidad en la mayoría de los pacientes (61,6% y 55,81%, respectivamente). Los autoanticuerpos estaban disponibles en 53 de 86 pacientes, 24,5% tenían AIH-1, 3,8% tenían AIH-II y 67,9% eran seronegativos. Se inició tratamiento médico que incluyó prednisolona y azatioprina, 53 de 86 casos (61,6%) tuvieron remisión y 11 de 86 (13,7%) toleraron el retiro de medicamentos con éxito. Entre todos los casos, 26 (30,2%) pacientes necesitaron un trasplante de hígado. La tasa de mortalidad fue de 9 entre 86 casos (10,5%). Conclusión : la ictericia y la hepatomegalia fueron los hallazgos clínicos más frecuentes. La tasa de mortalidad fue del 10,5%.

The effect of baked milk on accelerating unheated cow's milk tolerance: A control randomized clinical trial.

BACKGROUND: Assessing the effect of adding baked milk products to the diet of patients with cow's milk allergy on accelerating the formation of tolerance. METHOD: A randomized clinical trial was carried out with 84 patients (6 months-3 years old) diagnosed with allergy to cow's milk who tolerated baked milk in form of muffin in oral food challenge (OFC). The subjects were divided randomly into case and control groups matched for age and sex. Patients in the case group were asked to consume baked milk in the form of muffin for 6 months and then to consume baked cheese in the form of pizza for another 6 months. The control group were instructed to strictly avoid any milk products for 1 year. Skin prick test (SPT) and serum-specific immunoglobulin E (sIgE) levels (ImmunoCAP) of milk, casein, and beta-lactoglobulin were measured before and after the study. In addition, those in the case group who had satisfactorily tolerated baked products during the study as well as all the subjects in the control group underwent an OFC to evaluate unheated milk tolerance at the end of the study. RESULTS: It was shown that by the end of the 1-year study period, 88.1% (37/42) of the patients in the case group and 66.7% (28/42) of those in control group had developed tolerance to unheated milk (P-value: 0.018). The results of milk-specific SPT and sIgE levels showed a significant decrease in the case group. Initial sIgE levels could not predict unheated milk tolerance in case and control groups. CONCLUSION: Introducing baked milk products into the diet of patients with milk allergy can accelerate the tolerance of unheated milk in these patients. sIgE levels of milk, casein, and beta-lactoglobulin did not predict the tolerance of unheated milk.

Genetic Analysis of Southwestern Iranian Patients with Familial Mediterranean Fever.

BACKGROUND: Familial Mediterranean fever (FMF) is an autosomal recessive genetic disorder characterized by recurrent episodes of self-limited fever and serosal tissues inflammation. METHODS: To evaluate clinical symptoms and common genetic mutations in southwestern Iranian patients with FMF, 20 unrelated patients were enrolled in this study based on clinical criteria. A panel of 12 common MEFV gene mutations was tested. RESULTS: The most frequent clinical presentations of the patients were fever, colicky abdominal pain and arthritis. Eighteen patients responded completely to colchicine therapy. MEFV gene mutations were detected in only 40% of the patients. The most common mutation was E148Q, detected in five patients (25%). The V726A, M694V and P369S mutations were each observed in one patient. CONCLUSIONS: Although none of the 12 mutations we included in our test panel was detected in 60% of our patients, all of them had FMF symptoms and responded well to colchicine. MEFV full gene sequencing analysis in these patients may lead to finding new mutations in southwestern Iranian FMF patients which would be helpful in designing a local diagnostic kit.

The efficacy and duration of treatment with propranolol in children with cyclic vomiting syndrome in southern Iran.

INTRODUCTION: Cyclic vomiting syndrome is a functional disorder characterised by repeated episodes of nausea and vomiting with symptom-free intervals between the attacks. Cyclic vomiting syndrome is a migraine equivalent; therefore, anti-migraine medications are effective for cyclic vomiting syndrome prophylaxis, but duration of treatment is not clear. AIM: To determine the efficacy and duration of drug therapy in cyclic vomiting syndrome. MATERIAL AND METHODS: This study was conducted on 206 cases of cyclic vomiting syndrome, who were treated with propranolol as prophylaxis. After they were symptom-free for at least 9 months, propranolol was tapered and discontinued and then they were followed for at least 6 months after drug withdrawal for evaluation of recurrence. RESULTS: The study subjects included 127 boys and 79 girls. The mean age of symptom onset was 3.4 years (range: 3 months to 14.5 years) and the mean age at the time of diagnosis was 5.7 years (range: 8.4 months to 18 years). Among the 206 patients in whom propranolol was discontinued, only 16 (7.8%) subjects developed recurrence of symptoms in the 6-month follow-up period. CONCLUSIONS: There is no need to continue prophylaxis of cyclic vomiting syndrome for a long time. It is also possible to make the duration of drug therapy shorter, which is useful for the convenience of the patients and prevention of drug side effects.

Breastfeeding as a Protective Effect Against Childhood Leukemia and Lymphoma.

BACKGROUND: Over the past several years, breastfeeding has been associated with many benefits as well as protective effects against many diseases. There is limited evidence for the relationship between breastfeeding and the incidence of leukemia. OBJECTIVES: In this study, we evaluate the correlation of childhood leukemia and lymphoma with breastfeeding duration in children in southern Iran. PATIENTS AND METHODS: Through this case control study, we compared 123 patients with leukemia and lymphoma to a control group of 137 healthy children. Statistical analysis was done using the Chi-square test and t-test as well as logistic regression methods. A P-value of less than 0.05 was considered significant. RESULTS: Our findings showed that breastfeeding duration had no significant difference between cases and controls. However, the rural living percentage in patients with leukemia and lymphoma was higher than in the control group (39.8% versus 14.6% [P < 0.001 and OR = 3.87]) and parents' exposure to chemical materials during the war between Iran and Iraq was higher in sick patients (6.5% versus 0% [OR = 20.2%]). CONCLUSIONS: The current study showed that breastfeeding duration has no protective effect against childhood leukemia and lymphoma. In addition, we suggest that some factors such as living in a rural area, smoking during pregnancy, parents' exposure to chemical materials and low socioeconomic status can increase the incidence rate of childhood leukemia and lymphoma.

A Rapid Screening Test on Dried Blood for the Neonatal Diagnosis of Tyrosinemia Type I.

BACKGROUND: Tyrosinemia is an inherited metabolic disorder characterized by elevated levels of tyrosine and its metabolites in plasma. Without treatment, the disease will progress to hepatic and renal failure, so that without liver transplantation will cause death in less than 10 years of age. So, early diagnosis and treatment can be life saving and crucial. It means that with early treatment starting in the neonatal period, the patient can have normal life with very few restrictions in diets containing tyrosine and phenylalanine. OBJECTIVES: In this study we wanted to evaluate an easy to perform, rapid and sensitive qualitative test with low cost, as a part of neonatal screening tests to help early diagnosis and treatment of hereditary tyrosinemia. PATIENTS AND METHODS: In this cross sectional study, during the study period (2013 - 2014), 100 patients were selected. Fifty three (53) of these patients had proven tyrosinemia and the other 47 cases biliary atresia, paucity of intrahepatic bile ducts, cytomegalovirus (CMV) hepatitis, galactosemia and storage diseases. RESULTS: There were 2 false negative and 14 false positive cases of hereditary tyrosinemia (HT-1) in the test. Six cases of biliary atresia, 7 cases of paucity of intrahepatic bile ducts and one patient with cytomegalovirus (CMV) hepatitis were falsely positive with the test. Sensitivity of the test was 96.23%, specificity 71.43%, positive predictive value (PPV) 78.46%, and negative predictive value (NPV) 94.59%. CONCLUSIONS: This rapid qualitative test on dried blood sample is an easy, cheap, and feasible method for the screening of hereditary tyrosinemia in neonatal period.

Effects of Quince syrup on clinical symptoms of children with symptomatic gastroesophageal reflux disease: A double-blind randomized controlled clinical trial.

OBJECTIVE: The aim of this study was to evaluate the efficacy of Quince syrup in pediatrics with symptomatic gastroesophageal reflux disease (GERD). METHOD: Participants (n = 80) were randomly assigned to the Quince group (0.6 cc/kg/day) or the Omeprazole group (1 cc/kg/day). Age specific questionnaires were used to assess the frequency and severity of the GERD symptoms. Mean of cumulative symptom score (CSS) at weeks 4 and 7 were compared with baseline. RESULTS: The mean CSS value was significantly decreased from baseline in each treatment group without statistically significant differences between them. Although the mean CSS value among infants and young children was slightly decreased in the Quince group at week seven, this value was increased among children aged 5-18 years in both treatment groups without significant differences. CONCLUSION: Despite the effectiveness of Quince syrup in reducing symptoms in all pediatrics age groups, no significant differences were observed in comparison with the control group.

Gallbladder hydrops due to viral hepatitis a infection: a case report.

INTRODUCTION: Acute Hepatitis A Virus (HAV) infection is common in the developing countries among children, but hydrops of gallbladder due to hepatitis A infection is an uncommon presentation. CASE PRESENTATION: A five-year-old boy was admitted in Namazi Hospital, Shiraz, Iran due to jaundice and severe abdominal pain for 10 days. Physical examination revealed a mass in the right upper quadrant with severe tenderness. Liver function tests were abnormal while other laboratory data such as blood urea nitrogen, serum creatinine, sodium, and potassium were within the normal range. Blood and urine cultures were negative. Abdominal ultrasonography showed that the gallbladder was very much distended and its fundus was near the iliac crest. Hydrops of the gallbladder was diagnosed. HAV IgM titer was high. After five days, without any specific treatment, his symptoms improved and he was discharged with good condition. CONCLUSIONS: Acute acalculous gallbladder disease is a rare complication of HAV infection which should be suspected in any child with right upper quadrant abdominal pain, tenderness, and mass which can lead to surgical emergency in rare conditions.

Low Incidence of α-1 antitrypsin deficiency among babies with prolonged jaundice.

UNLABELLED:   BACKGROUND: α-1 antitrypsin (AAT) deficiency is one of the most important genetic causes of childhood liver diseases in some parts of the world, but its geographic distribution is highly variable. There are many reports from Asian countries such as India, the Philippines, and China which show a very low incidence of this disease. However few studies exist from Iran regarding this genetic deficiency as the cause for prolonged neonatal jaundice. In this study we attempt to investigate the possible role of AAT deficiency as a cause of prolonged neonatal jaundice in the largest pediatric referral center of Southern Iran. METHODS: We included 126 neonates with the clinical diagnosis of neonatal cholestasis in this study. Polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) was performed on the extracted DNA from their blood samples. DNA sequencing confirmed the results of the PCR-RFLP tests. RESULTS: All patients were genetically normal regarding level of AAT, i.e., all were MM homozygotes. CONCLUSION: AAT deficiency is a rare disease in Iran and is not a major cause of neonatal cholestasis in this country.

Prevalence of Gilbert syndrome in parents of neonates with pathologic indirect hyperbilirubinemia.

BACKGROUND AND OBJECTIVES: The cause of hyperbilirubinemia cannot be found in about 45% of cases of neonatal jaundice. Gilbert syndrome (GS) is the most common congenital disease associated with bilirubin metabolism in the liver. Since the screening value of genetic tests cannot be fully determined until accurate data on the prevalence and penetrance of the GS genotype are known, we sought to estimate whether the prevalence of GS is higher in the parents of neonates with severe unexplained indirect hyperbilirubinemia. DESIGN AND SETTING: Case-control study of parents of neonates with severe unexplained indirect hyperbilirubinemia admitted to a neonatal ward. METHODS: We used the rifampin test (checked bilirubin before and 4 hours after administration of 600 mg rifampin) for diagnosis of GS in parents of 115 neonates with severe unexplained indirect hyperbilirubinemia. We compared the prevalence of GS in these parents with that of a control group of 115 couples referred for premarital counseling. RESULTS: The 115 neonates were aged 5.2 (1.6) days (mean, standard deviation), all were breast-fed, and males constituted 56.5%. Mean total serum bilirubin (TSB) level was 20.96 (5.48) mg/dL. 14.8% were glucose 6 phosphate dehydrogenase (G6PD) deficiency was present in 14.8%, and 10.4% had A, B or O blood group (ABO) incompatibilities with their mothers. There was no difference in the prevalence of GS between parents of the group with hyperbilirubinemia (22.2%) and the control group (19.13%) (P=.42). Mean TSB in neonates with parents who had GS was more (about 3 mg/dL) than in neonates with normal parents (P=.004). Fathers had GS twice as often as the mothers among the parents of neonates with hyperbilirubinemia (P=.003), among the control group (P=.009) and among neonates (P=.014). CONCLUSION: This study showed that GS cannot cause severe indirect hyperbilirubinemia by itself, but it may have a summative effect on rising bilirubin when combined with other factors, for example, G6PD. Our results showed that in GS, males are affected about twice as much as the females.