An Effiecient Approach for Resource Auto-Scaling in Cloud Environments

Cloud services have become more popular among users these days. Automatic resource provisioning for cloud services is one of the important challenges in cloud environments. In the cloud computing environment, resource providers shall offer required resources to users automatically without any limitations. It means whenever a user needs more resources, the required resources should be dedicated to the users without any problems. On the other hand, if resources are more than user’s needs extra resources should be turn off temporarily and turn back on whenever they needed. In this paper, we propose an automatic resource provisioning approach based on reinforcement learning for auto-scaling resources according to Markov Decision Process (MDP). Simulation Results show that the rate of Service Level Agreement (SLA) violation and stability that the proposed approach better performance compared to the similar approaches

Vehicular Networks: A Survey on Architecture, Communication Technologies and Applications

The Intelligent Transportation System (ITS) provides wireless and mobile communication between vehicles and infrastructure to improve the safety of transportation and make the journey more enjoyable. This system consists of many fixed and mobile nodes (Vehicles, Trains, Vessels, Air planes), Wireless and Wired Telecommunication Technologies to exchange information between mobile nodes or between mobile nodes and fixed stations. The most common transportation tools are cars. Vehicular Ad-hoc Networks as an Application of Mobile Ad-hoc Networks and one of the subsets of Intelligent Transportation System provides wireless Ad-hoc communication between vehicles. VANET is a mobile wireless technology which is designed to improve safety of transportation with exchanging real time data between vehicles and providing different services to the users. It has special characteristics like high mobility and provides a broad range of services to the users, so it has been emerged as one of the research interests in the field of computer and telecommunication networks. In This paper we present different aspects of ITS and VANET to help the researchers to understand the Architecture, Communication Technologies and Applications of these networks

Accidental Children Poisoning With Methadone: An Iranian Pediatric Sectional Study

How to Cite This Article: Jabbehdari S, Farnaghi F, Shariatmadari SF, Jafari J, Mehregan FF, Karimzadeh P. Accidental Children Poisoning With Methadone: An Iranian Pediatric Sectional Study. Iran J Child Neurol. 2013 Autumn;7(7): 32-34.ObjectiveToxic poisoning with methadone is common in children in Iran. Our study was carried out due to the changing pattern of methadone poisoning in recent years and increasing methadone toxicity. Materials & MethodsIn this descriptive-sectional study, all of the methadone poisoned children younger than 12 years who were admitted to the Loghman Hakim Hospital in 2012, were assessed. Clinical symptoms and signs, para-clinical findings, and treatment were evaluated. ResultsIn this study, 16 boys and 15 girls who had been poisoned by methadone were enrolled. The mean age of patients was 55 months. All patients had been poisoned randomly or due to parent’s mistakes. The mean time of symptoms onset after methadone consumption was 1 hour and 30 Min, indicating a relatively long time after onset of symptoms.Clinical findings were drowsiness (75%), miotic pupil (68 %), vomiting (61%), rapid shallow breathing (57%) and apnea (40%). In paraclinical tests, respiratory acidosis (69%) and leukocytosis (55.2%) were seen. The most important finding was increase in distance of QT in ECG (23.8%). The mean time of treatment with naloxone infusion was 51 hours. Three percent of patients had a return of symptoms after discontinuation of methadone. In patients with apnea, a longer course of treatment was required, and this difference was significant. Also, 17% of patients with apnea had aspiration pneumonia, which was statistically significant. ConclusionWe suggest long time treatment with naloxone and considering the probability of return of symptoms after discontinuation of methadone.ReferencesGoldfrank L, Flomenbaum N, Lewin N. Goldfrank’s Toxicologic Emergencies. 7th ed. McGraw–Hill 2002; p. 590-607.Schelble DT. Phosgene and phosphine. In: Haddad LM, Shannon MW, Winchester J, eds. Clinical Management of Poisoning and Drug Overdose. 3rd ed. Philadelphia: WB Saunders; 2007. p. 640-7.Jennifer C, Gibson A. Accidental methadone poisoning in children: A call for Canadian research action. Child Abuse Negl;2010;34(8):553-4.Binchy JM, Molyneux E, Manning J. Accidental ingestion of methadone by children in Merseyside. BMJ 1994;308(6940:1335-6.Zamani N, Sanaei-Zadeh H, Mostafazadeh B. Hallmarks of opium poisoning in infants and toddlers. Trop Doct 2010;40(4):220-2.LoVecchio F, Pizon A, Riley B, Sami A, D’Incognito C. Onset of symptoms after methadone overdose. Am J Emerg Med 2007;25(1):57-9.Thanavaro KL, Thanavaro JL. Methadone-induced torsades de pointes: a twist of fate. Heart Lung 2011;40(5):448-53.Gaalen FA, Compier EA, Fogteloo AJ. Sudden hearing loss after a methadone overdose. Eur Arch Otorhinolaryngol 2009;266(5):773-4.Lynch RE, Hack RA. Methadone-induced rigid-chest syndrome after substantial overdose.Pediatrics. 2010; 126(1):232-4.Sidlo J, Valuch J, Ocko P, Bauerová J. Fatal methadone intoxication in a 11-month-old male infant. Soud Lek 2009;54(2):23-5.

Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric patients

How to Cite This Article: Karimzadeh P, Jafari N, Alai MR, Jabbehdari S, Ahmad Abadi F, NejadBiglari H. Homocystinuria: Diagnosis and Neuroimaging Findings - of Iranian Pediatric Patients. Iran J Child Neurol. 2015 Winter;9(1):94-98.AbstractObjectiveHomocystinuria is a neurometabolic diseases characterized by symptoms include Neurodevelopmental delay, lens dislocation, long limbs and thrombosis.Materials & MethodsThe patients who were diagnosed as homocystinuria marfaniod habits, seizure in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran between 2004 and 2014 were included in our study. The disorder was confirmed by clinical andneuroimaging findings along withneurometabolic and genetic assessment fromreference laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimagingfindings of 20 patients with homocystinuria.ResultsA total of 75% of patients were offspring from consanguineous marriages. A total of 95% of patients had a history of developmental delay and 40% had developmental regression. A total of 75% had seizures from these 45% showed refractory seizures. Seizures among 13 patients werecontrolled with suitable homocystinuria treatment. The patients with homocystinuriawere followed for approximately 10 years and the follow-ups showed that the patients with an early diagnosis and treatment had more favorable clinical responses for growth index,controlled refractory seizures, neurodevelopmental status, and neuroimaging findings. Neuroimaging findings include brain atrophy and/or white matter involvement.ConclusionAccording to the results of this study, we suggest that early assessment and detectionplayan important role in the prevention of disease progression and clinical signs. Homocystinuria in patients with a positive family history, developmental delays, or regression, refractory, or recurrent seizures should take precedence over other causes.ReferencesBrustolin S1, Giugliani R, Félix TM. Genetics of homocystine metabolism and associated disorders.Braz J Med Biol Res. 2010 Jan; 43(1):1-7.Iacobazzi V, Infantino V, Castegna A, AndriaG. Hyperhomocysteinuria: Related genetic diseases and congenital defects, abnormal DNA methylation and newborn screening issues. Mol Genet Metab. 2014 September - October; 113(1-2):27-33.SelhubJ.Homocystinemetabolism.Annu Rev Nutr. 1999;19:217-46.Ali Z, Troncoso JC, Fowler DR.Recurrent cerebral venous thrombosis associated with heterozygote methylenetetrahydrofolate reductase C677T mutation and sickle cell trait without Homocysteinuria: An autopsy case report and review of literature.ForensicSci Int. 2014 Sep;242:e52-5.RozenR.Genetic modulation of Homocysteinuria. SeminThrombHemost. 2000;26(3):255-61.Palma Reis R, Sales Luis. Homocisteinemia e Doença Vascular – O Nascer de um Novo Factor de Risco. Rev Port Cardiol 1999; 18:507-14McCully KS. Homocystine theory of arteriosclerosis: development and current status. Atherosclerosis Rev 1983;11:157-246.Malinow MR. Homocystinuria: a common and easily reversible risk factor for occlusive atherosclerosis. Circulation 1990;81:2004-6.Boushey CJ, Beresford SAA, Omenn GS, Motulsky AG. A quantitive assessment of plasma homocystine as a factor for vascular disease: probable benefits of increasing folic acid intakes. JAMA 1995;472:1049-57.Carson NAJ, Neill DW. Metabolic abnormalities detectedin a survey of mentally backward individuals in NorthernIreland. Arch Dis Child 1962;37:505-13.Gerritsen T, Waisman HA. Homocystinuria, an error inthe metabolism of methionine. Pediatrics 1964;33:413-20.Mallory T. Case records of the Massachusetts GeneralHospital.Case 19471. Marked cerebral symptoms followinga limp of three months duration. N Engl J Med 1933;209:1063-6.Shih VE, Efron ML. Pyridoxine-unresponsive homocystinuria. Final diagnosis of MGH case 19471. N Engl Med1970;283:1206-8.Kang SS, Wong PWK, Malinow MR. Hyperhomocyst(e) inemia as a risk factor for occlusive vascular disease.Ann Rev Nutr 1992;12:279-98.Mudd SH, Skovby F, Levey HL, et al. The natural history of homocystinuria due to cystathionine B-synthase deficiency. Am J Hum Genet 1985;37:1-31.Fonseca N1, Vidal N, Santos J, Brito AP, Bernardino L, Silvestre I, InêsL.Hyperhomocysteinuria–case report.Rev Port Cardiol. 2003 Feb;22(2):223-30.Mudd SH, Levy HL. Disorders of transsulfuration. InStanbury JB, Wingarden JB, Fredrickson DS, Goldstein JL,Bronw MS (eds.). The Metabolic Basis of Inherited Disease.New York, McGraw-Hill 1983;522-559.Sachdeva V1, Mittal V, Pathengay A, Kekunnaya R, Gupta A, Rao BV.Isolated abducens nerve palsy with hyperhomocysteinuria: Association and outcomes.Indian J Ophthalmol. 2013 Oct;61(10):598-600

Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients)

How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari H, Jabbehdari J, Khayat Zadeh S, Ahmad Abadi F, Lotfi A. Neurometabolic Diagnosis in Children who referred as Neurodevelopmental Delay (A Practical Criteria, in Iranian Pediatric Patients). Iran J Child Neurol. Summer 2016; 10(3):73-81. ObjectiveWe aimed to investigate the clinical and para clinical manifestations of neuro metabolic disorders, in patients who presented by neuro developmental delay in their neuro developmental milestones.Materials & MethodsThe patients diagnosed as neuro developmental delay and regression with or without seizure at the Neurology Department of Mofid Children Hospital in Tehran, Iran between 2004 and 2014 were included in our study. These patients diagnosed as neuro developmental delay by pediatric neurologists in view of diagnostic /screening neuro developmental assessment tests. The patients who completed our inclusion criteria as neuro metabolic disorders were evaluated in terms of metabolic and genetic study in referral lab.ResultsOverall, 213 patients with neurometabolic disorders were diagnosed. 54.3% of patients were male. The average age of patients was 41 +-46.1 months. 71.4% of parent’s patients had consanguinity of marriages. Eighty seven percent of patients had developmental delay (or/and) regression. 55.5% of them had different type of seizures. Overall, 213 patients with 34 different neurometabolic disorders were diagnosed and classified in the 7 sub classes, consisting of:1- organic acidemia and aminoacidopathy (122 patients), 2-storage disease (37 patients) 3- eukodystrophy (27 patients), other classes consisted: lipid oxidation disorders, urea cycle disorders, progressive myoclonic epilepsy; and peroxizomal disorders (27 patients).ConclusionIn patients with developmental delay or regression, with or without seizure, abnormal neurologic exam along with positive family history of similar disorder or relative parents, abnormal brain imaging with specific patterns, neurometabolic disorders should be considered as one of the important treatable diseases. ReferencesBrismar J. CT and MRI of the brain in inherited neurometabolic disorders. J Child Neurol 1992 Apr;7 Suppl:S112-31.Barkovich AJ. An approach to MRI of metabolic disorders in children. J Neuroradiol 2007; 34(2):75-88.Barkovich AJ. A magnetic resonance approach to metabolic disorders in childhood. Rev Neurol 2006 10;43 Suppl 1:S5-16.Zimmerman RA. Neuroimaging of inherited metabolic disorders producing seizures. Brain Dev 2011;33(9):734-44.Cakir B, Teksam M, Kosehan D, Akin K, Koktener A.Inborn errors of metabolism presenting in childhood. J Neuroimaging 2011;21(2):e117-33.Burton BK. Inborn errors of metabolism in infancy: a guide to diagnosis. Pediatrics 1998;102(6):E69.Iman G. Mahmoud M, Marwa M, Miral R, Marian G, Nevin W, Ameera E. Clinical, Neuroimaging, and Genetic Characteristics of Megalencephalic Leukoencephalopathy With Subcortical Cysts in Egyptian Patients. Pediatr Neurol 2014;140e-148.Sarar M, Ebtessam M, Melegy B, Iman T, Amany H, Khaled K. Neurometabolic Disorders-Related Early Childhood Epilepsy: A Single-Center Experience in Saudi Arabia. Pediatr Neurol 2015; xx, 1e9.Talebian A, Jahangiri M, Rabiee M, Masoudi N, Akbari H, Sadat Z. The Etiology and Clinical Evaluations of Neonatal Seizures in Kashan, IRAN. Iran J Child Neurol 2015;9(2):29-35.Vigevano F, Bartuli A. Infantile epileptic syndromes and metabolic etiologies. J Child Neurol 2002;17:3S9e13.Karimzadeh P. Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View. Iran J Child Neurol 2015;9(1): 1-16.Hee Eun S, Houn Hahn S. Metabolic evaluation of children with global developmental delay. Korean J Pediatr 2015;58(4):117-122.Kroll R, Pagel M, Roman S, Barkovich A, D’Agostino A, Neuwelt E.White matter changes associated with feline GM2 gangliosidosis (Sandhoff disease): correlation of MR findings with pathologic and ultrastructural abnormalities. Am J Neuroradiol 1995;16(6):1219-26.Karimzadeh P, Jafari N, Nejad Biglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee M,. GM2-Gangliosidosis (Sandhoff and Tay Sachs disease): Diagnosis and Neuroimaging Findings (An Iranian Pediatric Case Series). Iran J Child Neurol 2014;8(3):55-60.Wang Q, Ding Y, Liu Y, Li X, Wu T, Song J, et al.(Clinical and laboratory studies on 28 patients with glutaric aciduria type 1). Zhonghua Er Ke Za Zhi 2014 Jun;52(6):415-9.Karimzadeh P, Pirzadeh Z, Ahmadabadi F, Jafari N, Jabbehdari S, Nemati H,. Glutaric aciduria type 1: diagnosis and neuroimaging findings of this neurometabolic disorder in an Iranian pediatric case series. Int J Develop Dis 2014; 60(3): 1–6Weller S, Rosewich H, Gärtner J. Cerebral MRI as a valuable diagnostic tool in Zellweger spectrum patients. J Inherit Metab Dis 2008;31(2):270-80.Groeschel S, Kehrer C, Engel C, I Dali C, Bley A, Steinfeld R, et al. Metachromatic leukodystrophy; natural course of cerebral MRI changes in relation to clinical course. J Inherit Metab Dis 2011;34(5):1095-102.Klee D, Thimm E, Wittsack HJ, Schubert D, Primke R, Pentang G,et al. Structural white matter changes in adolescents and young adults with maple syrup urine disease. J Inherit Metab Dis 2013;36(6):945-53.Karimzadeh P. Approach to neurometabolic diseases from a pediatric neurological point of view. Iran J Child Neurol 2015;9(1):1-16.Leuzzi V1, Tosetti M, Montanaro D, Carducci C, Artiola C, Carducci C,et al. The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study. J Inherit Metab Dis 2007;30(2):209-16. Epub 2007 Jan 23.Karimzadeh P, Ahmadabadi F, Jafari N, Shariatmadari F, Nemati H, Ahadi A, Karimi Dardashti S, Mirzarahimi M, Dastborhan Z, Zare Noghabi J. Study on MRI changes in phenylketonuria in patients referred to mofid hospital/ iran. Iran J Child Neurol 2014 ;8(2):53-6.Abdelhalim AN, Alberico RA, Barczykowski AL, Duffner PK. Patterns of magnetic resonance imaging abnormalities in symptomatic patients with Krabbe disease correspond to phenotype. Pediatr Neurol 2014;50(2):127-34.Santosh Rai PV, Suresh BV, Bhat IG, Sekhar M, Chakraborti S.Childhood adrenoleukodystrophy - Classic and variant - Review of clinical manifestations and magnetic resonance imaging. J Pediatr Neurosci 2013;8(3):192-7.George U, Varte N, Rathore S, Jain V, Goyal S. “Split thalamus”: Internal medullary involvement in Wilson’s disease. Neurol India 2010;58:680Oder W, Prayer L, Grimm G, Spatt J, Ferenci P, Kollegger H, et al. Wilson’s disease: evidence of subgroups derived from clinical findings and brain lesions. Neurology 1993;43:120-4.Bickel H.(Brain atrophy and disorders of the amino acid metabolism). Monatsschr Kinderheilkd 1967;115(4):254-8.Karimzadeh P, Jafari N, Alai M, Jabbehdari S, Nejad Biglari H. Homocystinuria: Diagnosis and Neuroimaging Findings of Iranian Pediatric patients. Iran J Child Neurol 2015;9(1):94-8.Sreenivasan P, Purushothaman KK.Radiological clue to diagnosis of Canavan disease. Indian J Pediatr 2013;80(1):75-7.Karimzadeh P, Jafari N, Nejad Biglari H, Rahimian E, Ahmadabadi F, Nemati H, Nasehi MM, Ghofrani M, Mollamohammadi M. The Clinical Features and Diagnosis of Canavan’s Disease: A Case Series of Iranian Patients. Iran J Child Neurol 2014 ;8(4):66-71.Nguyen HV, Ishak GE. Canavan disease - unusual imaging features in a child with mild clinical presentation. Pediatr Radiol 2014 Aug 9.Rogers T, al-Rayess M, O’Shea P, Ambler MW.Dysplasia of the corpus callosum in identical twins with nonketotic hyperglycinemia. Pediatr Pathol 1991;11(6):897-902.Johnson JA, Le KL, Palacios E.Propionic acidemia: case report and review of neurologic sequelae. Pediatr Neurol 2009;40(4):317-20.Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbedari S, Taghdiri MM, Alaee MR, Ghofrani M, Tonekaboni SH, Nejad Biglari H. Propionic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder. Iran J Child Neurol 2014;8(1):58-61.35.Desai S, Ganesan K, Hegde A.Biotinidase deficiency: a reversible metabolic encephalopathy. Neuroimaging and MR spectroscopic findings in a series of four patients. Pediatr Radiol 2008;38(8):848-56.Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH. Biotinidase deficiency: a reversible neurometabolic disorder (an Iranian pediatric case series). Iran J Child Neurol 2013;7(4):47-52.Brismar J, Ozand PT.CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 1994;15(8):1459-73.Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbedari S, Taghdiri MM, Nemati H, Saket S, Shariatmadari SF, Alaee MR, Ghofrani M, Tonekaboni SH. Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series). Iran J Child Neurol 2013;7(3):63-6.

Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series)

 How to Cite This Article: Karimzadeh P, Ahmadabadi F, Jafari N, Jabbehdari S, Alaee MR, Ghofrani M, Taghdiri MM, Tonekaboni SH. Biotinidase Deficiency: A Reversible Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol. 2013 Autumn; 7(4):47- 52. ObjectiveBiotinidase deficiency is one of the rare congenital metabolic disorders with autosomal recessive inheritance. If this disorder is diagnosed in newborn period, could be prevented well from mental and physical developmentaldelay and most of clinical manifestations.Materials & MethodsThe patients were diagnosed as biotinidase deficiency in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2009 and 2012 were included in this study. This study was conducted to define the age, gender, past medical history, developmental status, general appearance, clinical manifestations, neuroimaging findings, and response to treatment in 16 patients with biotinidase deficiency in this department.ResultsIn clinical presentation, cutaneous lesions were not found in 37% of the patients and 43% patients had not alopecia. 75% patients had abnormal neuroimaging that in 56% of them, generalized brain atrophy and myelination delay were found. Results of the present study showed the efficacy of biotin in early diagnosed patients with seizure and dermatological manifestations. The seizure and skin manifestations were improved after biotin therapy.ConclusionAccording to the results of this study, we suggest that early assessment and diagnosis have an important role in the prevention of disease progression and clinical signs. ReferencesWolf B.Disorders of biotin metabolism. In: Scriver CR,Beaudet AL, Sly W, et al.,eds. The Metabolic and MolecularBases of Inherited Disease, 8thed. New York,NY:McGraw-Hill;2001: 3935-3962.Rathi N, RathiM.Biotinidase deficiency with hypertonia as unusual feature.IndianPediatr. 2009;46(1):65-67.Wolf B.Worldwide survey of neonatal screening for biotinidasedeficiency.J Inherit Metab Dis. 1991;14(6):923-7.Dahiphale R, Jain S, AgrawalM.Biotinidasedeficiency. IndianPediatr. 2008;45(9):777-779.Heard GS,SecorMcVoy JR,Wolf B.A screening method for biotinidase deficiency in newborns.Clin Chem. 1984;30(1):125–7.Desai S, Ganesan K, HegdeA.Biotinidase deficiency: a reversible metabolic encephalopathy. neuroimaging and MR spectroscopic findings in a series of four patients. PediatrRadiol. 2008;38(8):848-856. Epub 2008 Jun 11.Wolf B.The neurology of biotinidasedeficiency.Mol Genet Metab. 2011;104(1-2):27-34. Epub 2011 Jun 12.Wastell HJ, Bartlett K, Dale G, et al. Biotidinase deficiency: a survey of 10 cases. Arch Dis Child. 1998;63(10):1244-1249.Wolf B, Pomponio RJ, Norrgard KJ, et al. Delayedonset profound biotinidase deficiency. J Pediatr.1998; 132(2):362–365.Grunewald S, Champion MP, Leonard JV, et al. Biotinidase deficiency: a treatable leukoencephalopathy. Neuropediatrics. 2004; 35(4):211–216.Wolf B, Spencer R, Gleason T. Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency. J Pediatr.2002; 140(2):242–246.

The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family

How to Cite This Article: Karimzadeh P, Jafari N, Nejad Biglari Hb, Jabbehdari S, Alizadeh M, Alizadeh Gh, Nejad Biglari Hm, Sanii S. The Clinical Features and Diagnosis of Adrenoleukodystrophy: A Case Series of Iranian Family. Iran J Child Neurol. Winter 2016; 10(1):61-64.AbstractObjectiveAdrenoleukodystrophy disorder is one of the x-linked genetic disorders caused by the myelin sheath breakdown in the brain. In this study, we present 4 yr experience on this disorder.Materials & MethodsThe patients diagnosed as adrenoleukodystrophy in the Neurology Department of Mofid Children’s Hospital in Tehran, Iran from 2010 to 2014 were enrolled into the study. The disorder was confirmed by neuroimaging and clinical findings along with genetic and neurometabolic assessment at Reference Laboratory in Germany. We assessed age, gender, past medical history, developmental status, clinical manifestations, and neuroimaging findings of populous family with adrenoleukodystrophy.ResultsAll of the patients were one populous family with high rate of consanguineous marriages. This disorder was confirmed by genetic assessment, VLCFA and brain MRI.c.253_254insC, p.R85Pfs112* was found in heterozygote state and the VLCFA assessment showed the typical pattern for adrenoleukodystrophy/ adrenomyeloneuropathy. This diagnosis was in agreement with the family history and the clinical history of the patient. Since there have been a number of cases in patient’s family in the past, so intensive follow-up on the family especially detection the female members of the family of childbearing age was recommended. The amount of C-26, C24/C22 and C26/C22 was elevated. All patients with the same genotype had wide ranges of clinical presentation.ConclusionEarly diagnose of this disease might help us for early intervention and prenatal diagnosis for the disease in next siblings

HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions

How to Cite This Article: Tonekaboni SH, Jafari N, Mansouri M, Jabbehdari S, Eftekhari R, Chavoshzadeh Z, Abdollah Gorji F, Mesdaghi M. HLA-B*1502 in Iranian Children with Anticonvulsant Drugs-Induced Skin Reactions. Iran J Child Neurol. Spring 2017; 11(2):26-30. AbstractObjectiveAnticonvulsant drugs can cause various forms of skin drug reactions, ranging from exanthema to severe blistering reactions. An association between HLA-B*1502 allele and severe skin reactions have been reported.Materials & Methods Fifteen patients with severe skin reactions following treatment with anticonvulsant drugs (Carbamazepine, lamotrigine, phenobarbital, primidone) and 15 controls (age-matched epileptic patients taking similar anticonvulsants without drug eruption) were included. They were referred to Mofid Children’s Hospital in Tehran, Iran, between Jan 2012 to Jan 2014. Genomic DNA was extracted from peripheral blood of all patients and HLA- B*1502 genotype was detected by real-time PCR.Results None of the patients was positive for HLA- B*1502, but two patients in control group had positive HLA- B*1502.Conclusion The HLA- B*1502 is not correlated with severe anticonvulsant drugs -induced skin reactions in Iranian children. References 1.Roujeau JC. Clinical heterogeneity of drug hypersensitivity. Toxicology 2005; 209: 123 –9.2.McCormack M, Alfirevic A, Bourgeois S, Farrell JJ, Kasperavičiūtė D, Carrington M, et al. HLA-A*3101 and carbamazepine-induced hypersensitivity reactions in Europeans. N Engl J Med 2011; 364(12):1134-43.3.Daly AK, Donaldson PT, Bhatnagar P, Shen Y, Pe’er I, Floratos A, et al. HLA-B*5701 genotype is a major determinant of drug-induced liver injury due to flucloxacillin. Nat Genetic 2009; 41:816–9.4.Amstutz U, Ross CJ, Castro-Pastrana LI, Rieder MJ, Shear NH, Hayden MR, Carleton BC. CPNDS Consortium; HLA-A 31:01 and HLA-B 15:02 as genetic markers for carbamazepine hypersensitivity in children. Clin Pharmacol Ther 2013; 94(1):142-9.5.Man CB, Kwan P, Baum L, Yu E, Lau KM, Cheng AS, Ng MH. Association between HLA-B*1502 allele and antiepileptic drug-induced cutaneous reactions in Han Chinese. Epilepsia 2007; 48(5):1015-8.6.Zeng T, Long YS, Min FL, Liao WP, Shi YW. Association of HLA-B*1502 allele with lamotrigine-induced Stevens– Johnson syndrome and toxic epidermal necrolysis in Han Chinese subjects: a meta-analysis. Int J Dermatol 2015; 54(4):488-93.7.Bastuji-Garin S, Rzany B, Stern RS, Shear NH, Naldi L, Roujeau JC. Clinical classification of cases of toxic epidermal necrolysis, Stevens-Johnson syndrome, and erythema multiforme. Arch Dermatol 1993; 129(1):92-6.8. Hung SI, Chung WH, Jee SH, Chen WC, Chang YT, Lee WR, et al. Genetic susceptibility to carbamazepine-induced cutaneous adverse drug reactions. Pharmacogenet Genomics 2006; 16(4):297-306.9. Wang Q, Zhou JQ, Zhou LM, Chen ZY, Fang ZY, Chen SD, et al. Association between HLA-B*1502 allele and carbamazepine-induced severe cutaneous adverse reactions in Han people of southern China mainlan. Seizure 2011; 20 (6):446-8.10. Li LJ, Hu FY, Wu XT, An DM, Yan B, Zhou D. Predictive markers for carbamazepine and lamotrigine-induced maculopapular exanthema in Han Chinese. Epilepsy Res 2013; 106 (1-2):296-300.11. Kim SH, Lee KW, Song WJ, Kim SH, Jee YK, Lee SM, et al; Adverse Drug Reaction Research Group in Korea. Carbamazepine-induced severe cutaneous adverse reactions and HLA genotypes in Koreans. Epilepsy Res 2011; 97 (1-2):190-7.12. Criado PR, Criado RFJ, Avancini JM, Santi CG. Drug reaction with eosinophilia and systemic symptoms (DRESS)/drug-induced hypersensitivity syndrome (DIHS): a review of current concepts. An Bras Dermatol 2012; 87(3):435–49.13. Chung WH, Hung SI, Hong HS, Hsih MS, Yang LC, Ho HC, et al. Medical genetics: a marker for Stevens– Johnson syndrome. Nature 2004; 428: 486.14. Man CB, Kwan P, Baum L, Yu E, Lau KM, Cheng AS, Ng MH. Association between HLA-B*1502 allele and antiepileptic drug induced cutaneous reactions in Han Chinese. Epilepsia 2007; 48: 1015–8.15. Locharernkul C, Loplumlert J, Limotai C, Korkij W, Desudchit T, Tongkobpetch S, et al. Carbamazepine and phenytoin induced Stevens–Johnson syndrome is associated with HLA-B*1502 allele in Thai population. Epilepsia 2008; 49:2087–91.16. Kaniwa N, Saito Y, Aihara M, Matsunaga K, Tohkin M, Kurose K, et al. HLA-B locus in Japanese patients with anti-epileptics and allopurinol-related Stevens– Johnson syndrome and toxic epidermal necrolysis. Pharmacogenomics 2008; 9: 1617–22.17. Alfirevic A, Jorgensen AL, Williamson PR, Chadwick DW, Park BK, Pirmohamed M. HLA-B locus in Caucasian patients with carbamazepine hypersensitivity. Pharmacogenomics 2006; 7: 813–8.18. Tangamornsuksan W, Chaiyakunapruk N, Somkrua R, Lohitnavy M, Tassaneeyakul W. Relationship between the HLA-B*1502 allele and carbamazepine-induced Stevens- Johnson syndrome and toxic epidermal necrolysis: a systematic review and meta-analysis. JAMA Dermatol 2013; 149(9):1025-32

Sealed Unilateral Full-Thickness Macular Hole with Amniotic Membrane Graft in a Patient with Alport Syndrome: A Case Report

We present a case of unilateral full-thickness macular hole (MH) successfully repaired with an amniotic membrane (AM) graft in a patient with Alport syndrome. A 58-year-old Asian female with past medical history of Alport syndrome diagnosed at early stage, presented with a 5-week history of vision loss in her right eye. Examination of her eyes showed normal retinal vessels and an MH measuring 1,300 μm in basal diameter, 806 μm in minimum linear diameter, and 490 μm in height in the right eye and macular thinning with laser scars inferiorly in the left eye. The patient underwent 23-g pars plana vitrectomy with intraocular lens explantation. After multiple unsuccessful attempts in inducing a posterior vitreous detachment around the optic nerve and in the posterior pole, a 1 mm AM graft placed on the MH and the edges tucked under the edges of the hole using a bimanual technique. Five months after surgery, the MH remained sealed with improved final vision. MHs are rare manifestations of Alport syndrome, and surgical treatment of Alport syndrome-associated MHs is challenging. However, further studies to explore new techniques using AM are needed

Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

How to Cite This Article: Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbehdari S, Taghdiri MM, Alaee MR, Ghofrani M, Tonekaboni SH, Nejad Biglari H. Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder. Iran J Child Neurol. 2014 Winter; 8(1):58-61. ObjectivePropionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay.Materials & MethodsThe patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and  neuroimaging manifestations in 10 patients with propionic acidemia. ResultsSeventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection time, 30% of patients had head circumference and weight below the 3rd percentile. The patients were followed for approximately 5 years and this follow-up showed that the patients with early diagnosis had a more favorable clinical response.Neuroimaging findings included brain atrophy, white matter and globus pallidus involvement.ConclusionFinally we suggest that early diagnosis and treatment have an important role in the prevention of disease progression.References:Ramachandran R, Pietz J. Propionic acidemia without acidemia: a case report. J Perinatol 1995;15(1):71-3.Figueras Aloy J, Ribes Rubio A, Vilaseca Busca MA, Lluch Mir M, Brines Godino P, Jiménez González R, et al. [The neonatal form of propionic acidemia]. An Esp Pediatr 1988;29(6):459-62.Yuan L. [Propionic acidemia: one case report]. Zhongguo Yi Xue Ke Xue Yuan Xue Bao 1991;13(2):141-3.Hsu WC, Lin SP, Huang FY, Wang PA, Hsiao KJ. [Propionic acidemia: report of a case that is successfully managed by peritoneal dialysis and sodium benzoate therapy]. Zhonghua Yi Xue Za Zhi (Taipei) 1990;46(5):306-10.Schreiber J, Chapman KA, Summar ML, Ah Mew N, Sutton VR, MacLeod E, et al. Neurologic considerations in propionic acidemia. Mol Genet Metab 2012;105(1):10-5.Chapman KA, Gropman A, MacLeod E, Stagni K, Summar ML, Ueda K, et al. Acute management of propionic acidemia. Mol Genet Metab 2012;105(1):16-25.Ryu J, Shin YH, Ko JS, Gwak MS, Kim GS.Intractable metabolic acidosis in a child with propionic academia undergoing liver transplantation -a case report. Korean J Anesthesiol 2013;65(3):257-61.Fernandes J, Saudubray JM, Berghe GVD, Walter JH. Inborn Metabolic Diseases. 4th ed. Berlin: Springer;2006. P.247–256.Sutton VR, Chapman KA, Gropman AL, MacLeod E, Stagni K, Summar ML, et al. Chronic management and health supervision of individuals with propionic acidemia. Mol Genet Metab 2012;105(1):26-33.Lehnert W, Sperl W, Suormala T, Baumgartner ER. Propionic acidaemia: clinical, biochemical and therapeutic aspects. Experience in 30 patients. Eur J Pediatr 1994;153(7 Suppl. 1):S68–S80.Ozand PT, Rashed M, Gascon GG, Youssef NG, Harfi H, Rahbeeni Z, et al. Unusual presentations of propionic acidemia. Brain Dev 1994;16(Suppl):46-57.Feliz B, Witt DR, Harris BT. Propionic acidemia: a neuropathology case report and review of prior cases. Arch Pathol Lab Med 2003;127(8):e325-8.Hamilton RL, Haas RH, Nyhan WL, Powell HC, Grafe MR. Neuropathology of propionic acidemia: a report of two patients with basal ganglia lesions. J Child Neurol 1995;10:25-30.Brismar J, Ozand PT. CT and MR of the brain in disorders of the propionate and methylmalonate metabolism. Am J Neuroradiol 1994;15(8):1459-73.Bergman AJ, Van der Knaap MS, Smeitink JA, Duran M, Dorland L, Valk J, et al. Magnetic resonance imaging and spectroscopy of the brain in propionic acidemia: clinical and biochemical considerations. Pediatr Res 1996;40(3):404-9