1,721,018 research outputs found
Ethylmalonic Aciduria and Report of One Case from Iran
Full text linkThis condition is due to deficiency in electron transport flavoprotein or electron transport fluvoprotein dehydrogenase.The clinical presentation is characteristic of fatty acid oxidation disorders. This disorder is poor prognostic and death in infancy is common.The central nervous system involving causes neurodevelopmental delay, hypotonia, and head lag. Different type of seizures such as infantile spasm and generalized tonic clonic seizure begin in infancy and become refractory to antiepileptic drugs. Also episodes of status epilepticus are frequent. Neurological exam shows manifestation of upper motor neuron disease including exaggerated deep tendon reflex, ankle clonus and positive Babinski sign.Infectious disease and Intercurrent illnesses may lead to neurological deterioration and coma or death in the first few years of life. Also hemorrhagic episodes, for example, petechiae, ecchymose, hematuria and blood in stool associated with infectious disease is common manifestation.The hematologic investigations show no evidence of abnormalities in clotting and platelet function.The facial features of these patients resemble to each other and are mildly dismorphic. Sometimes the nasal bridge is depressed.Neuroimaging evaluation revealed delayed myelination and frontotemporal atrophy with high T2 intensity in basal ganglia.Acute catabolic state with crises of lactic academia and hypoglycemia are frequent but lactate and pyruvate can remain high between attacks.During attacks lactate level as high as 17 mmol/l and acidosis is more severe with PH values of 7.05 to 7.10.The major metabolic abnormality is high excretion of ethylmalonic acid in the urine.This disorder is transmitted in an autosomal recessive trait and boys and girls have been reported in same family.Ethyl malonicaciduria is lethal during infancy or first few years of life. Treatment with carnitine, vitamin C, vitamin D and riboflavin did not show dramatic effect. Diet with restricted methionine is helpful for decrease excretion of ethylmalonic acid in the urine and decrease the level of serum lactate and pyruvate.Case presentation A 2-year-old boy was referred to author’ clinic for evaluation of neurodevelopmental delay.He was the product of first pregnancy of consanguineous parents born by cesarean section.He had rolling and creeping but did not have the ability of sitting, standing and walking. He could not speak. He had a history of admission for bloody stool after 20 days of birth but hematologic evaluation did not confirm abnormal evidence.Neurological exam showed cerebral hypotonia (hypotonicity with no weight bearing and exaggerated deep tendon reflex). MRI revealed abnormal signal intensity in periventricular white matter and basal ganglia.Routine lab exam and venous blood Gas, ammonia and high performance liquid chromatography were in normal limits. Serum lactate level was mildly elevated.Urine organic acid showed high ethlymalonic acid 2125 mmol/molcreatinine (normal<17), therefore the diagnosis of ethyl malonicacidurai was confirmed.
Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View
Full text linkHow to Cite This Article: Karimzadeh P. Approach to Neurometabolic Diseases from a Pediatric Neurological Point of View. Iran J Child Neurol. 2015 Winter;9(1): 1-16. AbstractObjectiveNeurometabolic disorders are an important group of diseases that mostly arepresented in newborns and infants.Neurological manifestations are the prominent signs and symptoms in this groupof diseases. Seizures are a common sign and are often refractory to antiepileptic drugs in untreated neurometabolic patients.The onset of symptoms for neurometabolic disorders appears after an interval ofnormal or near normal growth and development.Additionally, affected childrenmay fare well until a catabolic crisis occurs.Patients with neurometabolic disorders during metabolic decompensation havesevere clinical presentation, which include poor feeding, vomiting, lethargy,seizures, and loss of consciousness.This symptom is often fatal but severe neurological insult and regression inneurodevelopmental milestones can result as a prominent sign in patients whosurvived.Acute symptoms should be immediately treated regardless of the cause.A number of patients with neurometabolic disorders respond favorably and, insome instances, dramatically respond to treatment.Early detection and early intervention is invaluable in some patients to preventcatabolism and normal or near normal neurodevelopmental milestones.This paper discusses neurometabolic disorders, approaches to this group ofdiseases (from the view of a pediatric neurologist), clinical and neurologicalmanifestations, neuroimaging and electroencephalography findings, earlydetection, and early treatment. ReferencesFiliano JJ. Neurometabolic Disease in the Newborn. ClinPerinatol 33, 2006, 411-479.Van Karnebeek CDM, Stockler S. Treatable inborn errors of metabolism causing intellectual disability: A systematic literature review. Molecular Genetics and Metabolism, 105, 2012, 369-381.Abdel-Salam GMH, Abdel-Kader AA, Effat L, Gouda A, Hindawy A, El-Gammal MA. Clinical, Electroencephalographic (EEG), Neuroradiological and Molecular Correlations in Late-Detected Phenylketonuria (PKU) Patients.Egypt J. Neurol. Psychiat. Neurosurg., 2005, 42(2):391-406.Karimzadeh P, Ahmadabadi F, Jafari N, Shariatmadari F, Nemati H, Ahadi A, KarimiDardashti S, Mirzarahimi M, Dastborhan Z, ZareNoghabi J. Study on MRI Changes in Phenylketonuria in Patients Referred to Mofid Hospital/ Iran. Iran J Child Neurol. 2014 spring 8(2):53-56.Karimzadeh P, Jafari N, Ahmad Abadi F, Jabbedari S, Taghdiri MM, Alaee MR, Ghofrani M, Tonekaboni SH, NejadBiglari H. Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder. Iran J Child Neurol. 2014 Winter; 8(1):58-61.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 .Karimzadeh P, Jafari N, Jabbehdari S, Taghdiri MM, Nemati H, Saket S, Alaee MR, Ghofrani M, Tonakebni SH. Methylmalonicacidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder (An Iranian Pediatric Case Series). Iran J Child Neurol. 2013 Summer; 7(3): 63-66.Radmanesh A, Zaman T, Ghanaati H, Molaei S, Robertson RL, ZamaniAA. Methylmalonicacidemia: brain-imaging findings in 52 children and a review of the literature. PediatrRadiol 2008 Oct;38(10):1054-6.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.Karimzadeh P, Pirzadeh Z, Ahmadabadi F, Jafari N, Jabbehdari S, Nemati H, Ghofrani M, Taghdiri MM, Tonekaboni SH, Mohammad-Reza Sharbatdaralaei. Glutaricaciduria type 1: diagnosis and neuroimaging findings of this neurometabolic disorder in an Iranian pediatric case series. International Journal of Developmental Disabilities 05/2014; DOI: 10.1179/2047387714Y.0000000039.Bernier FP, Boneh A, Dennett X, Chow CW, Cleary MA, Thorburn DR. Diagnostic criteria for respiratory chain disorders in adults and children. Neurology. 2002;59:1406–11.Wolf NI, Smeitink AM. Mitochondrial disorders: A proposal for consensus diagnostic criteria in infants and children. Neurology. 2002;59:1402–5.Majamaa K, Moilanen JS, Uimonen S, et al. Epidemiology of A3243G, the mutation for mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes: Prevalence of the mutation in an adult population. Am J Hum Genet. 1998;63:447–54.Lamont PJ, Surtees R, Woodward CE, Leonard JV, Wood NW, Harding AE. Clinical and laboratory findings in referrals for mitochondrial DNA analysis. Arch Dis Child, Arch Dis Child. 1998 Jul;79(1):22-7.Ferri R. Neurometabolic Disorders.Arch Neurol. 2005;62:1045-1046.PapettiL, ParisiP, LeuzziV, NardecchiaF, NicitaF, UrsittiF, Marra F, Paolino MC, Spalice A. Metabolic epilepsy: an update. Brain & Development. 2013 Oct;35(9):827-41.Salpietro V, Phadke R, Saggar A, Hargreaves IP, Yates R, Fokoloros C, Mankad K, Hertecant J, Ruggieri M, McCormick D, KinaliM. Zellweger syndrome and secondary mitochondrial myopathy. Eur J Pediatr. 2014 Oct 7 (Article in press).Schulz A, Kohlschütter A. NCL Disorders: Frequent Causes of Childhood Dementia. Iran J Child Neurol.2013 Winter; 7(1):1-8.Jalanko A, Braulke T. Neuronal ceroidlipofuscinoses. Biochim Biophys Acta 2009;1793:697-709.Karimzadeh P, Jafari N, NejadBiglari H, Jabbeh Dari S, Ahmad Abadi F, Alaee MR, Nemati H, SaketS, Tonekaboni SH, Taghdiri MM, Ghofrani M. GM2-Gangliosidosis (Sandhoff and Tay-Sachs disease): Diagnosis and Neuroimaging Findings(An Iranian Pediatric Case Series). Iran J Child Neurol. 2014 Summer;8(3): 55-60.Vanier MT, Duthel S, Rodriguez-Lafrasse C, et al. Genetic heterogeneity in Niemann-Pick C disease: a study using somatic cell hybridization and linkage analysis. Am J Hum Genet. 1996;58(1):118-125.Vanier MT. Niemann-Pick disease type C. Orphanet J Rare Dis. 2010;5:16.Meikle PJ, Hopwood JJ, Clague AE, et al. Prevalence of lysosomal storage disorders. JAMA. 1999; 281(3):249-254.Patterson MC, Hendriksz CJ, Walterfang M, et al. Recommendations for the diagnosis and management of Niemann-Pick disease type C: an update. Mol Genet Metab. 2012 ;106(3):330-3.Karimzadeh P, Tonekaboni SH, Ashrafi MR, Shafeghati Y, Rezayi A, Salehpour S, Ghofrani M, Taghdiri MM, Rahmanifar A, Zaman T, Aryani O, Shoar BN, Shiva F, Tavasoli A, and Houshmand M. Effects of Miglustat on Stabilization of Neurological Disorder in Niemann-Pick Disease Type C: Iranian Pediatric Case Series.J Child Neurol. 2013 Dec;28(12):1599-606.Gropman A. Imaging of Neurogenetic and Neurometabolic Disorders of childhood.Current Neurology and NeuroscienceReport. 2004. 4:139-146.Youssef-Turki IB, Kraoua I, Smirani S, Mariem K, Rhouma HB, Rouissi A, Gouider-Khouja N. Epilepsy Aspects and EEG Patterns in Neuro-Metabolic Diseases, Journal of Behavioral and Brain Science.2011. 1: 69-74.PapettiL, ParisiP, LeuzziV, Nardecchiac F, NicitaF, UrsittiF, MarraF, PaolinoMC,SpaliceA. Metabolic epilepsy: an update. Brain & Development. Article in press.Nov 2012
Pelizaeus-Merzbacher- Disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD)
Full text linkHow to Cite This Article: Karimzadeh P. Pelizaeus-Merzbacher- Disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD). Iran J Child Neurol Autumn 2014;8:4 (suppl.1):9-10. Pls see pdf
Juvenile type of Niemann-Pick type C disease and our study in Iranian NPC patients
Full text linkHow to Cite This Article: Karimzadeh P. Juvenile type of Niemann-Pick type C disease and our study in Iranian NPC patients. Iran J Child Neurol. 201 5 Autumn;9:4(Suppl.1): 5-6.Pls see Pdf.
Fabry Disease (A Kind of Lysosomal Storage Disease)
Full text linkHow to Cite this Article: Karimzadeh P. Fabery Disease (A kind of Lysosomal Storage Disease). Iran J Child Neurol Autumn 2012; 6:4(suppl. 1):6. Pls See PDF
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation
counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings
are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that
only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into
account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed
Variations on the Author
Full text link“Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship
Appropriate Similarity Measures for Author Cocitation Analysis
Full text linkWe provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis
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