Lysosomal Myopathies

How to Cite this Article: Nilipour Y. Lysosomal Myopathies. Iran J Child Neurol Autumn 2012; 6:4 (suppl. 1):11.Pls See PDF.

Muscle Biopsy Findings in Mitochondriopathies

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Using P300 to evaluate the effect of object color knowledge in novelty detection

Background & Objective: In an oddball experiment, the context in which novel stimuli are presented affects characteristics of novelty P3, i.e. as long as there is a difficult task in which the difference between standard and target stimuli is small, recurrent presentation of a highly discrepant stimulus can lead to P300 highly similar to novelty P3. Effect of stimulus properties on P300 has also been previously examined and it has been shown that it plays a significant role in P300 topography, its amplitude and latency. Here we have examined the effect of surface color of objects of high color-diagnosticity in a visual oddball paradigm. Materials & Methods: In two separate conditions, we used pictures of fruits as target and novel stimuli. In condition one, novel stimuli were pictures of fruits in their canonical colors. In the second condition, novel stimuli were the same photo filtered to have a different non-canonical color. P300 was compared among these conditions. Results: Both target P3 and novelty P3 were detected in the two conditions but no significant difference was evident between conditions. Conclusion: This result suggests that comparing to shape information; color cue does not play a significant role in detecting context novelty

Um algoritmo para selecionar o melhor gerenciamento de reclamações de licitação e construção por abordagem de comportamento de licitação oportunista

Due to intense competition in tenders and increasing complexity of the documents, participants are looking to win the bidding and increase profits due to existing limitations. It is common solution among bidders to consider the price down in tender and retrieve profits during implementing projects in order to the weakness of the employer, ambiguities in the documents and administrative environment. Therefore, in this study due to lack of a complete solution, a new algorithm is provided with regard to profit maximization of contractor with three main stages that consist of pre-tender, tender and post-tender by providing a method based on Fuzzy Multi Criteria Decision Making and game theory. For evaluate the results, a case study in a construction project is used. The evaluation results showed that in the first stage the results of algorithm and case study was same, but in the second and third stages the algorithm had better results.Debido a la intensa competencia en las licitaciones y la complejidad cada vez mayor de los documentos, los participantes buscan ganar la licitación y aumentar las ganancias debido a las limitaciones existentes. Es una solución común entre los licitantes considerar el precio bajo en licitación y recuperar ganancias durante la implementación de proyectos con el fin de la debilidad del empleador, las ambigüedades en los documentos y el entorno administrativo. Por lo tanto, en este estudio debido a la falta de una solución completa, se proporciona un nuevo algoritmo con respecto a la maximización de ganancias del contratista con tres etapas principales que consisten en pre-licitación, licitación y post-licitación al proporcionar un método basado en Fuzzy Multi Criteria Toma de decisiones y teoría de juegos. Para evaluar los resultados, se utiliza un estudio de caso en un proyecto de construcción. Los resultados de la evaluación mostraron que en la primera etapa los resultados del algoritmo y el estudio de caso fueron los mismos, pero en la segunda y tercera etapas el algoritmo tuvo mejores resultados.Devido à intensa concorrência nas licitações e ao aumento da complexidade dos documentos, os participantes procuram ganhar a licitação e aumentar os lucros devido a limitações existentes. É comum a solução entre os licitantes considerar o preço baixo na licitação e recuperar os lucros durante a implementação de projetos, a fim de fraqueza do empregador, ambigüidades nos documentos e ambiente administrativo. Portanto, neste estudo devido à falta de uma solução completa, é fornecido um novo algoritmo com relação à maximização do lucro do contratado com três etapas principais que consistem em pré-concurso, licitação e pós-oferta, fornecendo um método baseado em Multi Critérios Fuzzy. Tomada de Decisão e teoria dos jogos. Para avaliar os resultados, é utilizado um estudo de caso em um projeto de construção. Os resultados da avaliação mostraram que no primeiro estágio os resultados do algoritmo e estudo de caso foram os mesmos, mas no segundo e terceiro estágios o algoritmo obteve melhores resultados

Language representation and presurgical language mapping in pediatric epilepsy: A narrative review

AbstractAs one of the most common neurological diseases in children, epilepsy affects 0.9–2% of children. Complex interactions among the etiologies of the epilepsy, interictal discharges, seizures and antiepileptic drugs lead to cognitive impairments in children with epilepsy. Since epilepsy is considered as a network disorder that seizures have widespread impact on many parts of the brain, childhood epilepsy can even affect the normal development of language. About 25% of children with epilepsy do not respond to medications, therefore brain surgery is considered as a treatment option for some of them. Presurgical neuropsychological evaluations including language mapping is recommended to preserve cognitive and language abilities of patients after surgery.  Functional magnetic resonance imaging as a non-invasive technique for presurgical language mapping   has been widely recommended in many epileptic centers. The present study reviewed language representation and presurgical language mapping in children with epilepsy. In addition, mapping language in children with epilepsy helps to localize epileptogenic zone, to predict cognitive outcome of epilepsy surgery, and possible cognitive rehabilitation. This review gathered information about language representation and language mapping in pediatric   epilepsy settings. Key Words: pediatric epilepsy, language development, presurgical evaluation, language lateralit

Sustainability reporting assurance: Exploratory evidence in New Zealand

Recent growth in sustainability reporting has been followed by growth in sustainability reporting assurance. Although sustainability reporting and its assurance are both still voluntary in many countries around the world, like New Zealand, several organisations have already disclosed sustainability reports publicly and also engaged in the assurance process. The aim of this research project is to explore the current state of sustainability reporting assurance in New Zealand listed companies. The intention is to discover the motivations for, and barriers to, assurance engagement; identify the preferred assurers; and introduce the influential factors for improving the quality of sustainability reporting assurance statements. Mono and multiple methods are implemented in this exploratory research. The research design is divided into four sequential phases. The first phase considers information about the current status of sustainability reporting assurance. The second phase analyses sustainability reporting assurance statements published by companies listed on NZX through content analysis. The last two phases investigate sustainability managers’ and sustainability assurers’ viewpoints about several aspects of sustainability reporting assurance through one-on-one online semi-structured interviews. Using agency theory, signalling theory and stakeholder theory, this research provides insights into motivations for, and barriers to, sustainability reporting assurance engagement from the perspectives of the sustainability assurers and two groups of sustainability reporting organisations – those that have not yet engaged, and those that have already engaged, in the assurance process. The results highlight the characteristics of the preferred sustainability assurers. This research also identifies that while the quality of sustainability reporting assurance statements is increasing, there is still considerable room for improvement. iv A number of potential limitations including subjectivity apply to this research which uses a qualitative approach on a small population of New Zealand listed companies. Despite these limitations, this research still provides some valid insights about sustainability reporting assurance in a voluntary environment. In particular, this research extends previous studies to add to sustainability reporting assurance knowledge by collating the results of several data gathering and data analysis techniques, which examine that area comprehensively. This research provides broader insights into the terms of sustainability reporting assurance since it considers all types of internal and external sustainability assurance as well as two groups of reporting organisations. The findings of this research will practically benefit organisations; sustainability assurers; New Zealand authorities, legislators and standard setters; and other stakeholders by introducing the characteristics of best practice for sustainability reporting assurance in a voluntary sustainability reporting and assurance environment

Osteoclast-like giant-cell tumor of the parotid with salivary duct carcinoma: Case report and cytologic, histologic, and immunohistochemical findings

Primary giant-cell tumor of the salivary gland is a rare lesion with an incompletely characterized histogenesis. To the best of our knowledge, only 16 cases have been previously documented in the English-language literature. We report a new case, which occurred in a 75-year-old man who presented with a parotid mass and cervical lymphadenopathy. The patient underwent a left total parotidectomy and cervical lymph node dissection. As far as we know, ours is the only reported case of a primary giant-cell tumor of the salivary gland in which the patient presented with lymph node metastasis. Because so little is known about giant-cell tumor of the salivary gland, we use the occasion of this case report to describe the cytologic, histologic, and immunohistochemical characteristics that we observed

Clinical and Pathological Features of Lipid Storage Myopathy; A Retrospective Study of a Large Group from Iran

Background: Lipid storage myopathies (LSMs) are rare diseases. The phenotype and genotype of lipid metabolism disorders are heterogeneous and divided into two major groups. Constant or progressive proximal and axial muscle weakness associated with or without metabolic crisis, is often seen in patients with LSM such as primary carnitin deficiency (PCD) or multiple acyl-coenzyme a dehydrogenase deficiency disorder (MADD). On the other hand, rhabdomyolysis triggered by fasting, fever, or physical activity usually occurs in patients with disorders affecting intramitochondrial fatty acid transport and β-oxidation, such as carnitine palmitoyltransferase II deficiency (CPT2), mitochondrial trifunctional protein deficiency and very-long-chain acyl-CoA dehydrogenase deficiency (VLCAD). Methods: In this cross-sectional study, we summarized the clinical profiles and muscle histology of 64 Iranian patients diagnosed with LSM by muscle biopsy. These patients were selected from 3000 patients referred for muscle biopsy to Toos and Mofid children’s hospitals during 2010 to 2016. Their affected siblings were also added to the study. Result: In our study 45.3% of the patients were men and 54.7% were women. Mean age of the patients was 27.05 years (SD: 14.26) and the mean age of onset of symptoms in these patients was 20.94 (SD: 14.25) years.  Most patients (70.3%) had proximal weakness and no bulbar involvement. Only 9.3% of the patients had a positive family history. Conclusion: LSMs are not incommon in Iran and their phenotype can mimic inflammatory myopathy or limb girdle muscular dystrophy. Overall the demographic and clinical features of LSMs in Iranian patients were similar to prior reports

Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center

How to Cite This Article: Aghayan Golkashani H, Hatami H, Farzan A, Mohammadi HR, Nilipour Y, Khoddami M, Jadali F. Tumors of the Central Nervous System: An 18-Year Retrospective Review in a Tertiary Pediatric Referral Center. Iran J Child Neurol. Summer 2015;9(3):24-33. AbstractObjectiveFew studies exist on the demographics and trends of pediatric central nervous system (CNS) tumors in Iran. In this study, we retrospectively reviewed all cases with confirmed CNS tumors admitted to Mofid Pediatric Hospital, Tehran, Iran during the last 18 years.Materials & MethodsData on gender, age of diagnosis, pathologic classification and tumor location were extracted from the available medical records. We used the last version of International Classification of Childhood Cancer.ResultOverall, 258 (81.9%) brain tumors and 57 (18.1%) spinal tumors were identified.Our subjects comprised of 147 (46.7%) female and 168 (53.3%) male children.More male dominancy was observed in brain tumors with a male to female ratio of 1.2 compared with 1.03 of spinal tumors. Malignant CNS tumors were most common in 1-4 yr age group. The four most common brain tumors in our subjects were astrocytomas, medulloblastoma, ependymoma and craniopharyngioma.Overall, 53.1% of the brain tumors were supratentorial. Gliomas, PNET and neuroblastma were the most frequent primary spinal tumors in our study. We observed an increasing trend for both brain and spinal tumors that was more remarkable in the last 5 years.ConclusionOur results are comparable with similar single center studies on CNS tumors during childhood. The observed disparities could be attributed to the single center nature of our study and geographical, environmental and racial variations in pediatric CNS tumors. The increasing trend of both brain and spinal tumors could warrant further investigations at provincial and national levels to investigate probable contributing environmental risk factors.