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Medium-chain acyl-coA dehydrogenase deficiency (MCADD) is an autosomal recessive disorder of fatty acid β- oxidation, which is inherited in an autosomal recessive manner. The enzyme plays a role in hepatic Ketogenesis, which is a significant source of energy during prolonged fasting. There is no metabolic screening program except for phenylketonuria (PKU) and hypothyroidism in Iran, and such screening is exclusively implemented in the case of babies with unprovoked seizures and hypoglycemia and previous unexplained sibling deaths. In this paper, we report a case of a seven-year-old boy who presented with afebrile serial seizures leading to coma and death. in this regard, metabolic screening tests were used to determine the exact cause of encephalopathy and the final diagnosis. [ABSTRACT FROM AUTHOR]

Objective A breath-holding spell (BHS) is defined as an apnea attack following an initial stressful event like anger, sadness, and fear, a painful event like falling or head trauma or any stressful psychology event. This study was designed to assess the comparative efficacy of levetiracetam plus iron and iron alone in reducing the BHS frequency in children aged 6 months to 5 years. Materials & Method This study was designed as a double-blinded randomized clinical trial. Sixty patients aged 6 months to 5 years were assigned into two groups, with the first group (A) receiving only iron and the second group (B) receiving levetiracetam plus iron. At the end of the study, the efficacy of therapy was analyzed comparatively in these groups. Results In this study, the mean number of attacks was 3.94 ± 2.69 before treatment and 1.71 ± 1.99 after treatment in the group A, while it was 6.39 ± 5.7 before treatment and 0.37 ± 1.03after treatment in the group B. The mean number of attacks after treatment was lower in group B than in group A. In fact, there was a significant difference between the two groups in terms of the number of attacks after treatment (P = 0.003). Conclusion Levetiracetam plus iron is more effective than iron alone in reducing BHSs in children aged 6 months to 5 years. [ABSTRACT FROM AUTHOR]

OBJECTIVE: The effect of using omega-3 to prevent migraine attacks has been raised in recent studies. The majority of these studies have been conducted in adults. Conversely, other studies have yet to confirm the effect of omega-3. The main purpose of this study was to assess the effects of omega-3 in the prevention of migraine attacks in children. MATERIALS & METHODS: In this study, children aged 5-15 years with a diagnosis of migraine were randomly assigned to case and control groups. The case group was treated with sodium valproate and 1 g of omega-3; the control group was treated with sodium valproate and a placebo for 2 months. The severity of attacks was evaluated before and after the treatment using PedMIDAS and parental satisfaction (CGI) using a 7-point Likert scale. RESULTS: In this study, 12 cases and 13 controls were enrolled. The average number of headache attacks per month decreased significantly in both groups after starting the treatment but there was no significant difference between the two groups. The severity of attacks decreased significantly in both groups after starting the treatment but it was not significant between them. Examination of the CGI average showed the average was 6.08 (SD = 0.52) in the case group and 6.07 (SD = 0.65) in the control group. CONCLUSION: The present study indicated that omega-3 with a dose of 1 mg per day has no effect in reducing the severity and frequency of migraine attacks in children. Sodium valproate was effective in reducing the frequency and severity of attacks. [ABSTRACT FROM AUTHOR]

Introduction: Urinary Tract Infection (UTI) is one of the most common pediatric infections. UTI may create cystitis or pyelonephritis by involving bladder or renal parenchyma, respectively. Pyelonephritis, especially in pediatric patients, can lead to scar formation in kidneys and consequent complications such as hypertension, proteinuria, dysfunction and chronic renal insufficiency. The current study aimed to determine risk factors of acute rental cortical lesions in renal scintigraphy in children with UTI. Materials and Methods: Fifty-three patients with significant renal cortical lesions and 53 cases without significant renal cortical lesions were compared based on the intensity of findings of DMSA scintigraphy within the first two weeks of diagnosis. Patients were divided into three groups of 1 month to 2 years, 2 to 4 years and 4 to 10 years. Results: Of 106 patients, 11 males (20.8%) and 42 females (79.2%) had significant acute renal cortical lesions, whereas 15.1% of males and 84.9% of females had no significant acute renal cortical lesions. There was a significant difference in the degree of fever, the average interval between the onset of fever and treatment, mean level of CRP, leukocytosis and ESR in the two studied groups. The presence of Vesicoureteral Reflux (VUR), low initial hemoglobin and low initial BMI as random findings were associated with significant renal cortical lesions. Gender, age, grade of VUR and type of organism in urine culture had no significant association with significant renal cortical lesions. Conclusions: In this study, delaying in treatment, high degree fever, leukocytosis, high initial ESR and CRP, existence of VUR and low initial BMI and hemoglobin levels were associated with an increase in the value of acute renal cortical lesions, so in these cases, DMSA scan is suggested. [ABSTRACT FROM AUTHOR]

Objective(s): Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe) metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase (PAH), which leads to elevated levels of Phe in the blood. The present study was carried out for mutation analysis of the PAH gene in West Azerbaijan province of Iran. Materials and Methods: A total of 218 alleles from 40 PKU families were studied using restriction fragment length polymorphism-polymerase chain reaction (RFLP-PCR) method. Results: The frequencies of IVS10-11, S67P, R261Q, R252W, IVS11nt-1 g>c, R408Q, and Q232Q mutations were 28(35), 17(21.25), 15(18.75), 3(3.75), 3(3.75), 2(2.5), and 1(1.25), in cases group, and 51(23.4), 31(14.2), 27(12.4), 6(2.75), 6(2.75), 4(1.83), and 2(0.92) in total group, respectively. The mutations of R243Q, 364delG, L333F, 261X, I65T, and R408W were not detected in our samples. Conclusion: It can be concluded that the IVS10-11 mutation has the highest frequency in the tested population. To our knowledge, this report is the first in its own kind and provides better understanding of the genetic heterogeneity, the origin and distributions of PAH mutations in West Azerbaijan province of Iran. [ABSTRACT FROM AUTHOR]

Objective Intractable epilepsy is a major difficulty in child neurology, because the numbers of drugs that are available for treatment are limited and new treatments such as diets must be tried. Now there are some diets available for treating patients with intractable epilepsy. The oldest diet is the classic ketogenic diet and one of the newest diets is the modified Atkins diet. Patients have a harder time accepting the classic ketogenic diet than the Atkins diet, which is easier to accept because the food tastes better. This study compares the efficacy of the ketogenic diet and the Atkins diet for intractable epilepsy in children. Materials & Methods This study is a clinical trial survey with sample size of 40 children with refractory epilepsy who were patients at Mofid hospital in Tehran, Iran. Initially, from Jan 2005-Oct 2007, 20 children were treated with the Atkins diet, and then from Oct 2007-March 2010, the other group was treated with the classic ketogenic diet and the results were compared. Results In this study, response to treatment was greater than a 50% reduction in seizures and at the end of first, second, and third months for the ketogenic diet were 55%, 30%, and 70% and for the Atkins diet were 50%, 65%, and 70%, respectively. Conclusion The results of this study show that there is no significant difference between the classic Ketogenic diet and the Atkins diet at the end of first, second, and third months and both had similar responses to the treatments. [ABSTRACT FROM AUTHOR]

Objective Duchenne muscular dystrophy (DMD) is a degenerative disease that usually becomes clinically detectable in childhood as progressive proximal weakness. No cure is yet available for DMD, but the use of steroids improves muscle strength and function. This study has been carried out to select the best steroid for the management of DMD. Materials & Methods This study is a single-blind, randomized clinical trial with a sample volume of 34 DMD patients. Half of these patients were treated with deflazacort (0.9 mg/ kg daily) and the other half with prednisone (0.75 mg/kg daily) for a period of 18 months. The motor function score and excess body weight were registered one year after the start and also at the end of the study and compared between the two groups. Results Deflazacort was more effective in the improvement of motor function after one year, but there was no significant difference between the two drugs at the end of the study (18 months after start). Weight gain after one year and at the end of the study was higher in prednisone group and steroid treatment with deflazacort appears to cause fewer side effects than prednisone regarding weight gain. Conclusion Deflazacort seems to be more effective than prednisone in the improvement of motor function causing fewer side effects, particularly weight gain. This medication may be important for the improvement of motor function and could be used as the best steroidal treatment for Duchenne muscular dystrophy. [ABSTRACT FROM AUTHOR]

Objective This is the first report of CNS involvement by the new influenza virus (influenza A [H1N1]) in Iran. The patient was a 10-year-old boy with chief complaints of fever, malaise, and cranial nerve involvement, resulting in respiratory muscle paralysis and intubation. This shows that the new influenza virus, as well as the seasonal flu, can cause neurologic complications; however, the severity of the signs and symptoms is less and the disease may resolve without complications in the case of seasonal flu. Therefore, in each patient with neurologic involvement and typical influenza signs & symptoms or a flu-like syndrome, diagnostic tests for H1N1 flu virus should be considered, especially during epidemics, and treatment with oseltamivir should be started. [ABSTRACT FROM AUTHOR]

Introduction: We report the frequency of IVS10nt546, R261Q, S67P, R252W, and R408W mutations linked to PAH VNTR alleles in the west Azerbaijani PKU patients. Material and methods: VNTR alleles and IVS10nt546, R261Q, S67P, R252W, R408W mutations were studied in a total of 20 PKU patients by PCR and RFLP-PCR. Outcomes: Our analysis showed that 95% of cases were homozygote for an allele containing eightrepeat VNTR (VNTR8); while 5% were homozygote for an allele containing three-repeat VNTR (VNTR3). The IVS10nt546, R252W, and R261Q mutations were associated with VNTR8 allele, and also, R252W and S67P mutations were associated with VNTR3 allele. VNTR8 was common among mutant alleles as were IVS10nt546–VNTR8 (50%), R252W-VNTR8 (2.5%), and R261Q–VNTR8 (22.5%). The association of VNTR3 was found as R252W–VNTR3 (2.5%) and S67P–VNTR3 (2.5%) among studied cases. The frequency of IVS10nt546–VNTR8/IVS10nt546–VNTR8, IVS10nt546– VNTR8/ND–VNTR8, IVS10nt546–VNTR8/R252W–VNTR8, R261Q–VNTR8/R261Q-VNTR8, R261Q–VNTR8/ND–VNTR8, and S67P–VNTR3/ R252W–VNTR3 were 30%, 35%, 5%, 20%, 5%, and 5%, respectively. R408W mutation was not found in this study. Conclusions: The present report is the first in its own kind in the west Azerbaijani population (Iran) and implies that the most common PKU mutation in this population, IVS10nt546, is exclusively associated with VNTR8 allele, and IVS10nt546–VNTR8 alleles testing should be considered for routine carrier screening and prenatal diagnostic setting. [ABSTRACT FROM AUTHOR]

Objective: A breath-holdingspell (BHS) is defined as an apnea attack following an initial stressful event like anger, sadness, and fear, a painful event like falling or head trauma or any stressful psychology event. This study was designed to assessthe comparative efficacy of levetiracetam plus iron and iron alone in reducingthe BHS frequency in children aged 6 months to 5 years., Materials &method: This study was designed asa double-blinded randomized clinical trial. Sixty patients aged 6 months to 5 years were assigned into two groups, withthe first group (A) receiving onlyiron and the second group (B)receiving levetiracetam plus iron. At the end of the study, the efficacy of therapywas analyzed comparatively in these groups., Results: In this study, the mean number of attacks was 3.94 ± 2.69 before treatment and 1.71 ± 1.99after treatmentin the group A,while it was 6.39 ± 5.7 before treatment and 0.37 ± 1.03after treatment in the group B.The mean number of attacksafter treatment was lower in group B than in group A. In fact, there was a significant difference between the two groups in terms of the number of attacks after treatment (P = 0.003)., Conclusion: Levetiracetam plus iron is more effective than iron alone in reducing BHSs in children aged 6 months to 5 years.

Introduction: This study was carried out to determine the frequency of the VNTR-polymorphisms at the PAH gene in the Iranian Azeri Turkish patients with phenylketonuria (PKU) and normal controls., Material and Methods: The VNTR-polymorphisms were determined by PCR in 43 PKU patients as well as 43 controls., Outcomes: The frequencies of VNTR-alleles were 13(15.1%), 3(3.49%), 64(74.4%), 5(5.81%), and 1(1.16%) in the patients and 43(50%), 0(0%), 42(48.8%), 0(0%), and 1(1.16%) in the controls regarding 3, 7, 8, 9, and 11 repeat copies, respectively. The VNTR alleles with 12 and 13 repeats were not found in our samples. The frequencies of VNTR-genotypes were 25(58.1%), 1(2.33%), 1(2.33%), 10(23.3%), 2(4.65%), 2(4.65%), 1(2.33%), 1(2.33%), and 0(0%) in the patients and 13(30.2%), 13(30.2%), 0(0%), 16(37.2%), 0(0%), 0(0%), 0(0%), 0(0%) and 1(2.33%) in the controls regarding VNTR8/VNTR8, VNTR3/VNTR3, VNTR3/VNTR9, VNTR8/VNTR3, VNTR8/VNTR9, VNTR7/VNTR9, VNTR7/ VNTR8, VNTR8/VNTR11, and VNTR3/VNTR11 genotypes, respectively. The comparisons of VNTRpolymorphisms imply that there are statistically significant differences between the patients and controls regarding VNTR3, VNTR8, and VNTR9 alleles as well as VNTR8/VNTR8 and VNTR3/VNTR3 genotypes (all P-Value <0.05). The frequency of "risk-associated genotype of VNTR8/VNTR8" was significantly higher in the cases., Conclusion: It is concluded that this position is heterozygous and there were statistically significant differences between patients and controls concerning the VNTR8/VNTR8 genotype. We found higher frequencies of disease-associated genotype in our samples than controls. This report is the first in its own type in the west Azerbaijani population. Further studies require assessing how this genotype predicts adverse outcomes in tested population.