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Mahmoud R. Ashrafi
Department of Pediatric Neurology, Pediatric Center of Excellence, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran

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Case report
Published: 19 February 2021 in Journal of Pediatric Epilepsy
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Previously known as severe myoclonic epilepsy of infancy, Dravet syndrome is characterized by febrile or afebrile prolonged hemiconvulsive seizures or generalized status epilepticus in an infant with previously normal development. Immediate management of status epilepticus is critical in these patients. Early control of status epilepticus prevents further brain damage; however, there is no consensus regarding the management of status epilepticus in children with Dravet syndrome, as many conventional antiseizure medications that are recommended in the management of status epilepticus worsen the seizures in these patients. A 2.5-year-old girl was referred due to status epilepticus which was refractory to antiseizure medications. Sodium valproate, nitrazepam, ketogenic diet, intravenous phenytoin, and midazolam continuous infusion were administered. After controlling status epilepticus, the probable diagnosis of Dravet syndrome was proposed and confirmed by a mutation in SCN1A. As previously stated in numerous case reports, phenytoin worsens seizures in patients with Dravet syndrome. Therefore, it seems logical that in every infant with status epilepticus and probable Dravet syndrome, the practicing physician considers administering intravenous valproate or even midazolam continuous infusion instead of intravenous phenytoin.

ACS Style

Reza Shervin Badv; Azin Ghamari; Mahmoud Reza Ashrafi; Mahmoud Mohammadi; Reza Azizi Malamiri; Morteza Heidari. Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be? Journal of Pediatric Epilepsy 2021, 1 .

AMA Style

Reza Shervin Badv, Azin Ghamari, Mahmoud Reza Ashrafi, Mahmoud Mohammadi, Reza Azizi Malamiri, Morteza Heidari. Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be? Journal of Pediatric Epilepsy. 2021; ():1.

Chicago/Turabian Style

Reza Shervin Badv; Azin Ghamari; Mahmoud Reza Ashrafi; Mahmoud Mohammadi; Reza Azizi Malamiri; Morteza Heidari. 2021. "Managing Status Epilepticus in a Child with Dravet Syndrome: How Difficult It Could Be?" Journal of Pediatric Epilepsy , no. : 1.

Other
Published: 11 August 2020
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Niemann-Pick type C (NPC) is a rare lysosomal storage disorder with ocular motor involvement. In a multicontinental, cross-sectional study we characterized ocular motor function in 72 genetically proven patients from twelve countries by means of video-oculography. Interlinking with disease severity, we also searched for ocular motor biomarkers. Our study protocol comprised reflexive and self-paced saccades, smooth pursuit, and gaze-holding in horizontal and vertical planes. Data were compared with those of 158 healthy controls. The Modified Disability Rating Scale, Scale for Assessment and Rating of Ataxia, Spinocerebellar Ataxia Functional Index for neurological status, and Montreal Cognitive Assessment for cognition were also performed. In contrast to previous publications and the common belief that the “downward saccadic system degenerates to greater extent than the upward one”, our measurements of vertical saccades demonstrated that the involvement in both directions was similar. Mean saccadic peak velocity to 20° stimulus was 63.5°/s (SD, 95% CIs of the mean: 59.5, [47.9-79.2]) in NPC patients and 403.1°/s (69.0, [392.0-414.2°/s]) in healthy subjects (p The number of patient-specific saccadic patterns, incl. slow-pursuit like, hypometric and staircase-pattern saccades suggest varying involvement of the saccadic system with fragmentation of the velocity profile as a sign of omnipause neuron dysfunction. Observed compensating strategies, such as blinks to elicit saccades, head and upper body movements to overcome the gaze palsy, should be used clinically to establish a diagnosis. Vertical reflexive saccades were more impaired and slower than self-paced ones. Ocular motor performance depended on age of onset and disease duration. We found that peak velocity and latency of horizontal saccades, vertical saccadic duration and amplitude, and horizontal position smooth pursuit can be used as surrogate parameters for clinical trials, as they showed the strongest correlation to disease severity. By comparing saccadic with pursuit movements, we showed that 98.2% of patients generated vertical saccades (both up and down) that were below the 95% confidence intervals of the controls’ peak velocity. Only 46.9% of patients had smooth pursuit gain lower than that of 95% of healthy controls. Vertical supranuclear saccade palsy and not vertical supranuclear gaze palsy is the hallmark of NPC disease. The distinction between saccadic and gaze palsy is also important in other neurodegenerative diseases and inborn errors of metabolism with ocular motor involvement, such as progressive supranuclear palsy or Gaucher disease type 3.

ACS Style

Tatiana Bremova-Ertl; Larry Abel; Mark Walterfang; Ettore Salsano; Anna Ardissone; Věra Malinová; Miriam Kolníková; Jordi Gascón Bayarri; Ali Reza Tavasoli; Mahmoud Reza Ashrafi; Yasmina Amraoui; Eugen Mengel; Stefan A. Kolb; Andreas Brecht; Stanislavs Bardins; Michael Strupp. Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients. 2020, 1 .

AMA Style

Tatiana Bremova-Ertl, Larry Abel, Mark Walterfang, Ettore Salsano, Anna Ardissone, Věra Malinová, Miriam Kolníková, Jordi Gascón Bayarri, Ali Reza Tavasoli, Mahmoud Reza Ashrafi, Yasmina Amraoui, Eugen Mengel, Stefan A. Kolb, Andreas Brecht, Stanislavs Bardins, Michael Strupp. Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients. . 2020; ():1.

Chicago/Turabian Style

Tatiana Bremova-Ertl; Larry Abel; Mark Walterfang; Ettore Salsano; Anna Ardissone; Věra Malinová; Miriam Kolníková; Jordi Gascón Bayarri; Ali Reza Tavasoli; Mahmoud Reza Ashrafi; Yasmina Amraoui; Eugen Mengel; Stefan A. Kolb; Andreas Brecht; Stanislavs Bardins; Michael Strupp. 2020. "Ocular motor biomarkers in Niemann-Pick disease type C: A prospective cross-sectional multicontinental study in 72 patients." , no. : 1.

Research article
Published: 10 March 2020 in Journal of Child Neurology
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Introduction: Guillain-Barré syndrome is an immune-mediated peripheral neuropathy characterized by different clinical manifestations. We aimed to describe the clinical features, seasonal distribution, subtypes, and electrodiagnostic characteristics of Iranian children with Guillain-Barré syndrome. Methods: In this prospective study, a total of 30 children with Guillain-Barré syndrome were evaluated. All demographic features were collected and electrodiagnostic study was assessed. Results: Twelve participants were diagnosed with acute inflammatory demyelinating polyradiculoneuropathy and 18 patients were identified with acute motor axonal neuropathy. The initial findings showed that a significant number of patients (23 cases, P = .003) resided in rural areas. Our results showed a higher incidence of Guillain-Barré syndrome in summer and autumn months. No significant difference was observed between the seasonal distribution of acute inflammatory demyelinating polyradiculoneuropathy and acute motor axonal neuropathy subtypes. Antecedent history of pulmonary infections was recorded in 14 children with Guillain-Barré syndrome. Electrophysiological findings revealed a pattern of prolonged F wave latency with reduced persistency, absence of sensory nerve action potential, reduced compound muscle action potential amplitude, prolonged distal motor latency, reduced nerve conduction velocity, and abnormal temporal dispersion or conduction block in most patients with acute inflammatory demyelinating polyradiculoneuropathy. However, reduced compound muscle action potential amplitude, F wave with normal latency and reduced persistency, normal sensory nerve action potential amplitude, normal distal latency, normal sensory nerve conduction velocity, and conduction block or temporal dispersion were observed in most acute motor axonal neuropathy patients. Conclusion: The data support a correlation between Guillain-Barré syndrome incidence with seasonal variation and living area. Further studies should assess the Guillain-Barré syndrome features in pediatric population.

ACS Style

Mahmoud Reza Ashrafi; Ariadokht Mohammadalipoor; Alireza Ranjbar Naeini; Man Amanat; Ali Reza Tavasoli; Morteza Heidari; Reza Shervin Badv; Mahmoud Mohammadi; Gholam Reza Zamani; Shahram Rahimi-Dehgolan; Rosa Rahimi; Masood Ghahvechi Akbari. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population. Journal of Child Neurology 2020, 35, 448 -455.

AMA Style

Mahmoud Reza Ashrafi, Ariadokht Mohammadalipoor, Alireza Ranjbar Naeini, Man Amanat, Ali Reza Tavasoli, Morteza Heidari, Reza Shervin Badv, Mahmoud Mohammadi, Gholam Reza Zamani, Shahram Rahimi-Dehgolan, Rosa Rahimi, Masood Ghahvechi Akbari. Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population. Journal of Child Neurology. 2020; 35 (7):448-455.

Chicago/Turabian Style

Mahmoud Reza Ashrafi; Ariadokht Mohammadalipoor; Alireza Ranjbar Naeini; Man Amanat; Ali Reza Tavasoli; Morteza Heidari; Reza Shervin Badv; Mahmoud Mohammadi; Gholam Reza Zamani; Shahram Rahimi-Dehgolan; Rosa Rahimi; Masood Ghahvechi Akbari. 2020. "Clinical Characteristics and Electrodiagnostic Features of Guillain-Barré Syndrome Among the Pediatric Population." Journal of Child Neurology 35, no. 7: 448-455.

Review
Published: 04 March 2020 in Maritime Policy & Management
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Maritime ports play a pivotal role in facilitating trade, serving as key nodes in global transport chains. Competitive pressure exists for port managers and operators to search for ways to deliver consistent improvements in productivity and profitability. Additionally, external effects associated with port activities have been given more attention in recent years, thus favouring a holistic integration of sustainability into port planning and operations. In this process, factors driving ports to become more sustainable need to be examined. This study, which is based on a systematic review of literature published since 1987, synthesizes various research perspectives for corporate sustainability drivers in maritime ports using the lens of stakeholder theory. Thirty drivers of corporate sustainability were identified, classified into 10 main drivers and further grouped into five clusters, serving as the basis for development of a multi-stakeholder perspective. This study also discusses examples of actions taken by ports in response to perspectives of various stakeholders using selected case examples from existing literature. This study provides an understanding of how decisions for adopting corporate sustainability are motivated in ports according to a multi-stakeholder perspective, and highlights how ports have responded to shifts through developing and implementing sustainability strategies using global case examples.

ACS Style

Mehrnaz Ashrafi; Tony R. Walker; Gregory M. Magnan; Michelle Adams; Michele Acciaro. A review of corporate sustainability drivers in maritime ports: a multi-stakeholder perspective. Maritime Policy & Management 2020, 47, 1027 -1044.

AMA Style

Mehrnaz Ashrafi, Tony R. Walker, Gregory M. Magnan, Michelle Adams, Michele Acciaro. A review of corporate sustainability drivers in maritime ports: a multi-stakeholder perspective. Maritime Policy & Management. 2020; 47 (8):1027-1044.

Chicago/Turabian Style

Mehrnaz Ashrafi; Tony R. Walker; Gregory M. Magnan; Michelle Adams; Michele Acciaro. 2020. "A review of corporate sustainability drivers in maritime ports: a multi-stakeholder perspective." Maritime Policy & Management 47, no. 8: 1027-1044.

Journal article
Published: 21 January 2020 in Sustainability
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To unlock the potential for corporations to play a more proactive role in sustainable development, it is critical to have a fundamental understanding of the pathways leading to a responsible and sustainable business. This study explores contributions of theories of the firm in explicating why and how integrating corporate social responsibility (CSR) and corporate sustainability (CS) into business strategic decisions and operation processes helps to improve the viability of corporations. The research objective is addressed through a narrative review of relevant literature by following the developmental and evolutionary sequences in business responsibility and sustainability while contemplating the connections between CSR and CS through the lens of the dominant theoretical perspectives underpinning the concepts. The study posits an integrative theoretical framework that offers supports for embedding CSR and CS into a corporate business strategy. It discusses that corporate choice of CSR and CS actions and policies is supported by dual internal and external mechanisms based on resource-based theory and institutional theory. This is to meet the interests and expectations of internal and external stakeholders, the basis upon which stakeholder theory is constructed. Findings from this review corroborate the proposition that the three theories of resource-based, institutional, and stakeholder could be used as the primary approach to explain corporate recognition of the need for CSR and CS, and further build a coherent platform to support corporate choice and adoption of CSR and CS in business strategy.

ACS Style

Mehrnaz Ashrafi; Gregory M. Magnan; Michelle Adams; Tony R. Walker. Understanding the Conceptual Evolutionary Path and Theoretical Underpinnings of Corporate Social Responsibility and Corporate Sustainability. Sustainability 2020, 12, 760 .

AMA Style

Mehrnaz Ashrafi, Gregory M. Magnan, Michelle Adams, Tony R. Walker. Understanding the Conceptual Evolutionary Path and Theoretical Underpinnings of Corporate Social Responsibility and Corporate Sustainability. Sustainability. 2020; 12 (3):760.

Chicago/Turabian Style

Mehrnaz Ashrafi; Gregory M. Magnan; Michelle Adams; Tony R. Walker. 2020. "Understanding the Conceptual Evolutionary Path and Theoretical Underpinnings of Corporate Social Responsibility and Corporate Sustainability." Sustainability 12, no. 3: 760.

Letter to the editor
Published: 26 July 2019 in Orphanet Journal of Rare Diseases
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Ribonucleases (RNases) are crucial for degradation of ribosomal RNA (rRNA). RNASET2 as a subtype of RNASEs is a 256 amino acid protein, encoded by RNASET2 gene located on chromosome six. Defective RNASET2 leads to RNASET2-deficient leukoencephalopathy, a rare autosomal recessive neurogenetic disorder with psychomotor delay as its main clinical symptom. The clinical findings can be similar to congenital cytomegalovirus (CMV) infection and Aicardi-Goutieres syndrome (AGS). Herein, we presented a patient with motor delay, neurological regression, infrequent seizures and microcephaly at 5 months of age. Brain imaging showed white matter involvement, calcification and anterior temporal cysts. Basic metabolic tests, serum and urine CMV polymerase chain reaction (PCR) were requested. According to clinical and imaging findings, screening of RNASET2 and RMND1 genes were performed. The clinical data and magnetic resonance imaging (MRI) findings of previous reported individuals with RNASET2-deficient leukodystrophy were also reviewed and compared to the findings of our patient. Brain MRI findings were suggestive of RNASET2-deficient leukoencephalopathy, AGS and CMV infection. Basic metabolic tests were normal and CMV PCR was negative. Molecular study revealed a novel homozygous variant of c.233C > A; p.Ser78Ter in exon 4 of RNASET2 gene compatible with the diagnosis of RNASET2-deficient leukoencephalopathy. RNASET2-deficiency is a possible diagnosis in an infant presented with a static leukoencephalopathy and white matter involvement without megalencephaly. Due to overlapping clinical and radiologic features of RNASET2-deficient leukoencephalopathy, AGS and congenital CMV infections, molecular study as an important and helpful diagnostic tool should be considered to avoid misdiagnosis.

ACS Style

Reyhaneh Kameli; Man Amanat; Zahra Rezaei; Sareh Hosseionpour; Sedigheh Nikbakht; Houman Alizadeh; Mahmoud Reza Ashrafi; Abdolmajid Omrani; Masoud Garshasbi; Ali Reza Tavasoli. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant. Orphanet Journal of Rare Diseases 2019, 14, 1 -7.

AMA Style

Reyhaneh Kameli, Man Amanat, Zahra Rezaei, Sareh Hosseionpour, Sedigheh Nikbakht, Houman Alizadeh, Mahmoud Reza Ashrafi, Abdolmajid Omrani, Masoud Garshasbi, Ali Reza Tavasoli. RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant. Orphanet Journal of Rare Diseases. 2019; 14 (1):1-7.

Chicago/Turabian Style

Reyhaneh Kameli; Man Amanat; Zahra Rezaei; Sareh Hosseionpour; Sedigheh Nikbakht; Houman Alizadeh; Mahmoud Reza Ashrafi; Abdolmajid Omrani; Masoud Garshasbi; Ali Reza Tavasoli. 2019. "RNASET2-deficient leukoencephalopathy mimicking congenital CMV infection and Aicardi-Goutieres syndrome: a case report with a novel pathogenic variant." Orphanet Journal of Rare Diseases 14, no. 1: 1-7.

Review article
Published: 20 June 2019 in Acta Neurologica Belgica
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Creatine is the main source of energy for the brain. Primary creatine deficiency syndromes (PCDSs) are inborn error of metabolism of creatine synthesis. Symptoms of central nervous system involvement are the most common clinical manifestations in these disorders. We reviewed medical records of all genetically confirmed patients diagnosed by whole exome sequencing who were referred to Myelin and Neurodegenerative Disorders Clinic, Children’s Medical Center, Tehran, Iran, from May 2016 to Dec 2018. A literature review was conducted on clinical and genomic variability of PCDS to compare our patients with previously reported cases. We report two patients with creatine deficiency among a cohort of 550 registered cases out of which 200 patients had a genetically confirmed neurodegenerative disorder diagnosis. The main complain in the first patient with creatine transporter (CRTR) deficiency was seizure and genetic study in this patient identified a novel hemizygote variant of “c.92 > T; p.Pro31Leu” in the first exon of SLC6A8 gene. The second patient with guanidinoacetate methyltransferase (GAMT) deficiency had an unknown motor and speech delay as the striking manifestation and molecular assay revealed a novel homozygote variant of “c.134G > A; p.Trp45*” in the first exon of GAMT gene. PCDSs usually are associated with nonspecific neurologic symptoms. The first presented case had a mean delayed diagnosis of 5 years. Therefore, in children with unexplained neurologic features including developmental delay and/or regression, mental disability and repeated seizures without any significant findings in metabolic studies, PCDSs can be considered as a differential diagnosis and molecular analysis can be helpful for the precise diagnosis and treatment.

ACS Style

Parastoo Rostami; Sareh Hosseinpour; Mahmoud Reza Ashrafi; Houman Alizadeh; Masoud Garshasbi; Ali Reza Tavasoli. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. Acta Neurologica Belgica 2019, 120, 511 -516.

AMA Style

Parastoo Rostami, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Houman Alizadeh, Masoud Garshasbi, Ali Reza Tavasoli. Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review. Acta Neurologica Belgica. 2019; 120 (3):511-516.

Chicago/Turabian Style

Parastoo Rostami; Sareh Hosseinpour; Mahmoud Reza Ashrafi; Houman Alizadeh; Masoud Garshasbi; Ali Reza Tavasoli. 2019. "Primary creatine deficiency syndrome as a potential missed diagnosis in children with psychomotor delay and seizure: case presentation with two novel variants and literature review." Acta Neurologica Belgica 120, no. 3: 511-516.

Journal article
Published: 12 June 2019 in Iranian Journal of Pediatrics
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ACS Style

Reyhaneh Kameli; Mohammad Barzegar; Houman Alizadeh; Mahmoud Reza Ashrafi; Shahram Sadeghvand; Zahra Rezaei; Sareh Hosseinpour; Nejat Mahdieh; Ali Reza Tavasoli. An Asymptomatic Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts. Iranian Journal of Pediatrics 2019, 29, 1 .

AMA Style

Reyhaneh Kameli, Mohammad Barzegar, Houman Alizadeh, Mahmoud Reza Ashrafi, Shahram Sadeghvand, Zahra Rezaei, Sareh Hosseinpour, Nejat Mahdieh, Ali Reza Tavasoli. An Asymptomatic Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts. Iranian Journal of Pediatrics. 2019; 29 (4):1.

Chicago/Turabian Style

Reyhaneh Kameli; Mohammad Barzegar; Houman Alizadeh; Mahmoud Reza Ashrafi; Shahram Sadeghvand; Zahra Rezaei; Sareh Hosseinpour; Nejat Mahdieh; Ali Reza Tavasoli. 2019. "An Asymptomatic Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts." Iranian Journal of Pediatrics 29, no. 4: 1.

Research article
Published: 01 June 2019 in Cephalalgia
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Introduction Few drugs are available for migraine prophylaxis in children. Levetiracetam is a broad-spectrum anti-seizure drug that has been suggested to be effective in reducing adult migraine episodes. We assessed the safety and efficacy of levetiracetam in the prevention of pediatric migraine. Methods A randomized double-blind placebo-controlled trial was performed. Eligible participants were aged 4–17 years old with at least four migrainous episodes monthly or had severe disabling or intolerable episodes. Primary endpoints were the mean changes in monthly frequency and intensity of headaches from the baseline phase to the last month of the double-blind phase. Safety endpoint was the adverse effects reported. Results Sixty-one participants (31 taking levetiracetam and 30 taking placebo) completed the study. All had a significant reduction in frequency and intensity of episodes that was significantly greater in the levetiracetam arm. Sixty eight percent of individuals in the treatment group reported more than 50% reduction of episodes at the end of the trial compared with 30% in the placebo group ( p-value: 0.007). Irritability, day-time sedation, and mild tic were reported. Conclusion Levetiracetam may be useful in migraine prevention and may decrease migraine episodes and severity. Trial Registration The study is prospectively registered with Iranian Registry of Clinical Trials; IRCT.ir, number IRCT2017021632603N1.

ACS Style

Hadi Montazerlotfelahi; Man Amanat; Alireza Tavasoli; Elmira Agah; Gholam Reza Zamani; Josemir Sander; Reza Shervin Badv; Mahmoud Mohammadi; Mahdieh Dehghani; Morteza Heidari; Seyed Ahmad Hosseini; Mona Salehi; Mahmoud Reza Ashrafi. Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial. Cephalalgia 2019, 39, 1509 -1517.

AMA Style

Hadi Montazerlotfelahi, Man Amanat, Alireza Tavasoli, Elmira Agah, Gholam Reza Zamani, Josemir Sander, Reza Shervin Badv, Mahmoud Mohammadi, Mahdieh Dehghani, Morteza Heidari, Seyed Ahmad Hosseini, Mona Salehi, Mahmoud Reza Ashrafi. Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial. Cephalalgia. 2019; 39 (12):1509-1517.

Chicago/Turabian Style

Hadi Montazerlotfelahi; Man Amanat; Alireza Tavasoli; Elmira Agah; Gholam Reza Zamani; Josemir Sander; Reza Shervin Badv; Mahmoud Mohammadi; Mahdieh Dehghani; Morteza Heidari; Seyed Ahmad Hosseini; Mona Salehi; Mahmoud Reza Ashrafi. 2019. "Levetiracetam for prophylactic treatment of pediatric migraine: A randomized double-blind placebo-controlled trial." Cephalalgia 39, no. 12: 1509-1517.

Short communication
Published: 21 February 2019 in Neuropediatrics
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Leukodystrophies are heterogeneous group of genetic white matter disorders with a wide range of neurologic and systemic manifestations. Defects in genes encoding aminoacyl tRNA (transfer ribonucleic acid) synthetase enzymes (aaRSs) are recently identified as the etiology of some leukodystrophies. Herein, we described two unrelated children referred to Children's Medical Center, Tehran, Iran, with developmental delay, nystagmus, seizures, psuedo-bulbar palsy and dystonia. Whole exome sequencing (WES) in both patients identified a homozygous (c.2T > C) variant in exon one of RARS gene, encoding cytoplasmic arginyl-tRNA synthetase. Our finding was confirmed by segregation analysis. In silico analyses of the c.2T > C variant showed its possible pathogenic role due to the absence of the start codon. Severe hypomyelination was the common neuroimaging finding of both cases. Spinal cord involvement was found in one of our patients which was not previously reported in studies. We, therefore, showed that RARS-related hypomyelination might affect spinal cord.

ACS Style

Zahra Rezaei; Sareh Hosseinpour; Mahmoud Reza Ashrafi; Nejat Mahdieh; Houman Alizadeh; Masoud Mohammadpour; Nahideh Khosroshahi; Man Amanat; Ali Reza Tavasoli. Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients. Neuropediatrics 2019, 50, 130 -134.

AMA Style

Zahra Rezaei, Sareh Hosseinpour, Mahmoud Reza Ashrafi, Nejat Mahdieh, Houman Alizadeh, Masoud Mohammadpour, Nahideh Khosroshahi, Man Amanat, Ali Reza Tavasoli. Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients. Neuropediatrics. 2019; 50 (2):130-134.

Chicago/Turabian Style

Zahra Rezaei; Sareh Hosseinpour; Mahmoud Reza Ashrafi; Nejat Mahdieh; Houman Alizadeh; Masoud Mohammadpour; Nahideh Khosroshahi; Man Amanat; Ali Reza Tavasoli. 2019. "Hypomyelinating Leukodystrophy with Spinal Cord Involvement Caused by a Novel Variant in RARS: Report of Two Unrelated Patients." Neuropediatrics 50, no. 2: 130-134.

Journal article
Published: 16 February 2019 in Journal of Cleaner Production
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Despite the rising popularity of the corporate sustainability discourse in recent years, its role in the maritime industry, and in ports in particular, has been limited. Through an online survey, this study assessed the current state of corporate sustainability in ports in Canada and the US. The study ascertained the perception of port executives towards sustainability, analyzed port sustainability strategies and practices, and identified the main factors (motivations/driving factors and key challenges/barriers) influencing future adoption and implementation of corporate sustainability in ports. Results show that the majority of ports perceive sustainability as important and have adopted a number of sustainability strategies and practices, such as sustainability awareness and training programs, sustainability reporting, and sustainability initiatives and standards (e.g., Green Marine and ISO 14001 certification). Results also show that sustainability strategies have resulted in improved stakeholder relations in ports mainly with government/policy makers, customers, local communities, and industry associations. Yet, findings indicate that while corporate sustainability is regarded as a core value in the majority of ports, it is not fully integrated neither in strategic decision-making processes nor in operations in most ports. This study also investigated influencing factors for adoption of corporate sustainability in ports. Motivations/driving factors identified are growth, return on investment, risk management, and corporate citizenship, while main key challenges/barriers include cost associated with sustainability actions, lack of sustainability competences within the organization, limited customer interest for more sustainability services, and difficulty in implementing sustainability practices. Findings reveal that although many of the identified influencing factors for adoption and implementation of corporate sustainability in ports are similar to those identified in other studies, some are more sector specific which has allowed this study to contribute to advancing knowledge of corporate sustainability in the context of ports with novel insights.

ACS Style

Mehrnaz Ashrafi; Michele Acciaro; Tony R. Walker; Gregory M. Magnan; Michelle Adams. Corporate sustainability in Canadian and US maritime ports. Journal of Cleaner Production 2019, 220, 386 -397.

AMA Style

Mehrnaz Ashrafi, Michele Acciaro, Tony R. Walker, Gregory M. Magnan, Michelle Adams. Corporate sustainability in Canadian and US maritime ports. Journal of Cleaner Production. 2019; 220 ():386-397.

Chicago/Turabian Style

Mehrnaz Ashrafi; Michele Acciaro; Tony R. Walker; Gregory M. Magnan; Michelle Adams. 2019. "Corporate sustainability in Canadian and US maritime ports." Journal of Cleaner Production 220, no. : 386-397.

Journal article
Published: 13 February 2019 in European Journal of Medical Genetics
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RIN2 syndrome also known as MACS syndrome is a rare autosomal recessive connective tissue disorder caused by RIN2 mutations and is accompanied by following clinical features: macrocephaly, coarsening of facial features, downward slanting palpebral fissures, Puffy droopy eyelids, full everted lips, soft redundant skin especially in face, gum hypertrophy, irregular dentition, sparse scalp hair, skeletal problems, joint hypermobility and scoliosis. RIN2 gene encodes the RAS and RAB interactor 2 and biallelic mutations in this gene cause cell trafficking dysfunction. Here we reported the eleventh patient of RIN2 syndrome in a 4 yr-old boy, from Tehran, Iran as the youngest reported patient so far. Whole exome sequencing revealed a novel frameshift homozygous variant of NM_001242581.1: c.2251dup; p.(Leu751Profs*9) in RIN2 gene. In addition to the previously reported symptoms for the RIN2 syndrome, white matter abnormalities in his brain MRI were noticed. Our findings expand the clinical spectrum of MACS syndrome due to mutation in RIN2 gene.

ACS Style

Reyhaneh Kameli; Mahmoud Reza Ashrafi; Farveh Ehya; Houman Alizadeh; Sareh Hosseinpour; Masoud Garshasbi; Ali Reza Tavasoli. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. European Journal of Medical Genetics 2019, 63, 103629 .

AMA Style

Reyhaneh Kameli, Mahmoud Reza Ashrafi, Farveh Ehya, Houman Alizadeh, Sareh Hosseinpour, Masoud Garshasbi, Ali Reza Tavasoli. Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum. European Journal of Medical Genetics. 2019; 63 (1):103629.

Chicago/Turabian Style

Reyhaneh Kameli; Mahmoud Reza Ashrafi; Farveh Ehya; Houman Alizadeh; Sareh Hosseinpour; Masoud Garshasbi; Ali Reza Tavasoli. 2019. "Leukoencephalopathy in RIN2 syndrome: Novel mutation and expansion of clinical spectrum." European Journal of Medical Genetics 63, no. 1: 103629.

Article
Published: 07 December 2018 in Journal of Molecular Neuroscience
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Cell therapy and stem cell transplantation strategies have provided potential therapeutic approaches for the treatment of neurological disorders. Adipose-derived mesenchymal stem cells (ADMSCs) are abundant adult stem cells with low immunogenicity, which can be used for allogeneic cell replacement therapies. Differentiation of ADMSCs into acetylcholine-secreting motoneurons (MNs) is a promising treatment for MN diseases, such as spinal muscular atrophy (SMA), which is associated with the level of SMN1 gene expression. The SMN2 gene plays an important role in MN disorders, as it can somewhat compensate for the lack of SMN1 expression in SMA patients. Although the differentiation potential of ADMSCs into MNs has been previously established, overexpression of SMN2 gene in a shorter period with a longer survival has yet to be elucidated. Ponasterone A (PNA), an ecdysteroid hormone activating the PI3K/Akt pathway, was studied as a new steroid to promote SMN2 overexpression in MNs differentiated from ADMSCs. After induction with retinoic acid, sonic hedgehog, forskolin, and PNA, MN phenotypes were differentiated from ADMSCs, and immunochemical staining, specific for β-tubulin, neuron-specific enolase, and choline acetyltransferase, was performed. Also, the results of real-time PCR assay indicated nestin, Pax6, Nkx2.2, Hb9, Olig2, and SMN2 expression in the differentiated cells. After 2 weeks of treatment, cultures supplemented with PNA showed a longer survival and a 1.2-fold increase in the expression of SMN2 (an overall 5.6-fold increase; *P ≤ 0.05), as confirmed by the Western blot analysis. The PNA treatment increased the levels of ChAT, Isl1, Hb9, and Nkx2 expression in MN-like cells. Our findings highlight the role of PNA in the upregulation of SMN2 genes from MSC-derived MN-like cells, which may serve as a potential candidate in cellular therapy for SMA patients.

ACS Style

Rashin Mohseni; Mahmood Reza Ashrafi; Jafar Ai; Mahin Nikougoftar; Mahmoud Mohammadi; Masood Ghahvechi-Akbari; Alireza Shoae-Hassani; Amir Ali Hamidieh. Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A. Journal of Molecular Neuroscience 2018, 67, 247 -257.

AMA Style

Rashin Mohseni, Mahmood Reza Ashrafi, Jafar Ai, Mahin Nikougoftar, Mahmoud Mohammadi, Masood Ghahvechi-Akbari, Alireza Shoae-Hassani, Amir Ali Hamidieh. Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A. Journal of Molecular Neuroscience. 2018; 67 (2):247-257.

Chicago/Turabian Style

Rashin Mohseni; Mahmood Reza Ashrafi; Jafar Ai; Mahin Nikougoftar; Mahmoud Mohammadi; Masood Ghahvechi-Akbari; Alireza Shoae-Hassani; Amir Ali Hamidieh. 2018. "Overexpression of SMN2 Gene in Motoneuron-Like Cells Differentiated from Adipose-Derived Mesenchymal Stem Cells by Ponasterone A." Journal of Molecular Neuroscience 67, no. 2: 247-257.

Journal article
Published: 22 October 2018 in European Journal of Medical Genetics
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The seizure threshold 2 (SZT2) gene has been shown to confer a low seizure threshold and may enhance epileptogenesis in mice. However, its biological function is still not known. Mutations in SZT2 have been reported in very few patients and features range from mild to moderate intellectual disability without seizures to severe intellectual disability with epileptic encephalopathies with severe developmental delay. Here, we report a six-year-old boy with a novel homozygous mutation in SZT2 gene with intellectual disability, seizures, absent speech and autistic features. We are reporting the first patient with autistic features including very little or no eye contact, arm flapping and repetitive behaviour.

ACS Style

Ariana Kariminejad; Hilda Yazdan; Elham Rahimian; Zahra Kalhor; Zohreh Fattahi; Mehrshid Faraji Zonooz; Hossein Najmabadi; Mahmoudreza Ashrafi. SZT2 mutation in a boy with intellectual disability, seizures and autistic features. European Journal of Medical Genetics 2018, 62, 103556 .

AMA Style

Ariana Kariminejad, Hilda Yazdan, Elham Rahimian, Zahra Kalhor, Zohreh Fattahi, Mehrshid Faraji Zonooz, Hossein Najmabadi, Mahmoudreza Ashrafi. SZT2 mutation in a boy with intellectual disability, seizures and autistic features. European Journal of Medical Genetics. 2018; 62 (9):103556.

Chicago/Turabian Style

Ariana Kariminejad; Hilda Yazdan; Elham Rahimian; Zahra Kalhor; Zohreh Fattahi; Mehrshid Faraji Zonooz; Hossein Najmabadi; Mahmoudreza Ashrafi. 2018. "SZT2 mutation in a boy with intellectual disability, seizures and autistic features." European Journal of Medical Genetics 62, no. 9: 103556.

Journal article
Published: 22 September 2018 in Iranian Journal of Pediatrics
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Reza Shervin Badv; Arash Abbasi; Mahmoud Reza Ashrafi; Fakhreddin Shariatmadari; Omid Bayat. The Effect of Sodium Valproate on Urinary Frequency and Enuresis Compared to Carbamazepine in Children with Epilepsy. Iranian Journal of Pediatrics 2018, In Press, 1 .

AMA Style

Reza Shervin Badv, Arash Abbasi, Mahmoud Reza Ashrafi, Fakhreddin Shariatmadari, Omid Bayat. The Effect of Sodium Valproate on Urinary Frequency and Enuresis Compared to Carbamazepine in Children with Epilepsy. Iranian Journal of Pediatrics. 2018; In Press (In Press):1.

Chicago/Turabian Style

Reza Shervin Badv; Arash Abbasi; Mahmoud Reza Ashrafi; Fakhreddin Shariatmadari; Omid Bayat. 2018. "The Effect of Sodium Valproate on Urinary Frequency and Enuresis Compared to Carbamazepine in Children with Epilepsy." Iranian Journal of Pediatrics In Press, no. In Press: 1.

Journal article
Published: 03 August 2018 in Orphanet Journal of Rare Diseases
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Infantile Sandhoff disease (ISD) is a GM2 gangliosidosis that is classified as a lysosomal storage disorder. The most common symptoms of affected individuals at presentation are neurologic involvement. Here we report clinical course and demographic features in a case series of infantile Sandhoff disease. Enzymatically and some genetically proven cases of ISD were extracted from the Iranian Neurometabolic Registry (INMR) in Children’s Medical Center, Iran, Tehran from December 2010 to December 2016. Twenty five cases of infantile SD (13 female, 12 male) were included in this study. The age range of patients was 9–24 months with a mean of 15.8 months. The consanguinity rate of parents affected families was about 80%. The mean age of patients at disease onset was 6.4 months and the mean age at diagnosis was 14 months. Patients were diagnosed with a mean delay of 7.8 months. Eleven of patients died due to aspiration pneumonia and intractable seizure. The most common features at presentation (92%) were developmental delay or regression in speech and cognitive domains. Cherry red spots were detected in 17 patients (68%). Organomegaly was detected only in two patients. Enzyme studies showed marked reductions of both Hexosaminidase A and B in all patients. HEXB gene mutation studies performed in eight patients identified 6 different mutations, which five of them were novel. Infantile SD should be considered for each child presented with neurologic symptoms such as developmental delay and regression and cherry red spots in ophthalmic examination. Organomegaly is not a frequent clinical finding in infantile SD. Additionally; there are a genetic heterogenisity among Iranian patients.

ACS Style

Ali Reza Tavasoli; Nima Parvaneh; Mahmoud Reza Ashrafi; Zahra Rezaei; Johannes Zschocke; Parastoo Rostami. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. Orphanet Journal of Rare Diseases 2018, 13, 1 -8.

AMA Style

Ali Reza Tavasoli, Nima Parvaneh, Mahmoud Reza Ashrafi, Zahra Rezaei, Johannes Zschocke, Parastoo Rostami. Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations. Orphanet Journal of Rare Diseases. 2018; 13 (1):1-8.

Chicago/Turabian Style

Ali Reza Tavasoli; Nima Parvaneh; Mahmoud Reza Ashrafi; Zahra Rezaei; Johannes Zschocke; Parastoo Rostami. 2018. "Clinical presentation and outcome in infantile Sandhoff disease: a case series of 25 patients from Iranian neurometabolic bioregistry with five novel mutations." Orphanet Journal of Rare Diseases 13, no. 1: 1-8.

Review
Published: 07 May 2018 in International Journal of Sustainable Development & World Ecology
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The notion that corporations are expected to have social and environmental performance standards and practices while meeting their financial and legal obligations is commonly referred to as corporate social responsibility (CSR) or corporate sustainability (CS). Previous studies have discussed whether the two terms are converging or should be used as stand-alone concepts. After reviewing the trends in development of CSR and CS, and the various viewpoints on the relationships between the two, we propose a relationship model to better understand how CSR can be integrated into CS as either a transitional stage or ultimate goal for a corporation. This study aims to provide researchers and practitioners with further insights on the adoption of CSR and CS. The model is intended to provide a plausible view of the relationships between CSR and CS to help to lessen the confusion and ease the communication both between and within these fields.

ACS Style

M. Ashrafi; M. Adams; T. R. Walker; G. Magnan. ‘How corporate social responsibility can be integrated into corporate sustainability: a theoretical review of their relationships’. International Journal of Sustainable Development & World Ecology 2018, 25, 672 -682.

AMA Style

M. Ashrafi, M. Adams, T. R. Walker, G. Magnan. ‘How corporate social responsibility can be integrated into corporate sustainability: a theoretical review of their relationships’. International Journal of Sustainable Development & World Ecology. 2018; 25 (8):672-682.

Chicago/Turabian Style

M. Ashrafi; M. Adams; T. R. Walker; G. Magnan. 2018. "‘How corporate social responsibility can be integrated into corporate sustainability: a theoretical review of their relationships’." International Journal of Sustainable Development & World Ecology 25, no. 8: 672-682.

Journal article
Published: 10 March 2018 in Iranian Journal of Pediatrics
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Negin Rezaei; Sedighe Nikbakht; Mahmoud-Reza Ashrafi; Zahra Rezaei; Nejat Mahdieh; Houman Alizadeh; Man Amanat; Ali Reza Tavasoli. Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report. Iranian Journal of Pediatrics 2018, 28, 1 .

AMA Style

Negin Rezaei, Sedighe Nikbakht, Mahmoud-Reza Ashrafi, Zahra Rezaei, Nejat Mahdieh, Houman Alizadeh, Man Amanat, Ali Reza Tavasoli. Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report. Iranian Journal of Pediatrics. 2018; 28 (2):1.

Chicago/Turabian Style

Negin Rezaei; Sedighe Nikbakht; Mahmoud-Reza Ashrafi; Zahra Rezaei; Nejat Mahdieh; Houman Alizadeh; Man Amanat; Ali Reza Tavasoli. 2018. "Seizure as the Early and Main Manifestation of Infantile Vanishing White Matter Disease: A Case Report." Iranian Journal of Pediatrics 28, no. 2: 1.

Journal article
Published: 18 February 2018 in Iranian Journal of Pediatrics
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Background: Cerebral Palsy (CP) constitutes a heterogeneous group of developmental disorders resulting from damage to the brain which affects motor system. Cerebrolysin, as a neurotrophic peptide has been used for improving symptoms of patients suffering from neurodegenerative disorders. Objectives: Due to the presence of limited information about the usefulness of Cerebrolysin in CP, this study was performed for the evaluation of Cerebrolysin in the management of spasticity in children with CP. Methods: 26 Spastic CP patients aged between 2 and 6 years entered this study. At the first visit, Modified Ashworth scale for assessment of spasticity was used. Then Cerebrolysin was administered at a dose of 0.1 cc/kg intramuscularly (IM) for 3 months. In the first month, the medication was injected 5 times per week. In the second month of therapy, injections were performed as follows: 4 injections in the first week, 3 injections in the second week, 2 injections in the third week and a single one in the fourth week. In the third month of therapy, Cerebrolysin was continued as weekly injections. The spasticity of the patients was evaluated at the end of the first and third month of therapy. Results: Modified Ashworth score at baseline was 20.62 ± 9.65 which reached 15.19 ± 7.30 after 1 month of treatment. This figure was 14.81 ± 3.77 at month 3. Total decline in Modified Ashworth Scale was 5.42 ± 5.33 at the first month and 5.81 ± 2.74 at the third month in comparison to baseline. The difference between Modified Ashworth Scale at baseline and 1 month after therapy was significant (P = 0.000) but there was no significant difference between first month and third month of therapy. (P = 0.755). Also analysis indicates that there was an association between absolute reduction of Modified Ashworth score and the age at beginning of treatment (P = 0.037). Conclusions: Using Cerebrolysin as a neurotrophic peptide may improve spasticity of children with CP and should be considered as a possible useful treatment in CP cases. Keywords: Cerebrolysin; Cerebral Palsy; Spasticity; Modified Ashworth-Score

ACS Style

Mahmoud Reza Ashrafi; Amin Shahrokhi; Alireza Tavasoli; Seyed Ahmad Hosseini; Morteza Heidari; Mona Salehi; Elnaz Fattah Dizaji; Man Amanat. The Efficacy of Cerebrolysin in Improvement of Spasticity in Children with Cerebral Palsy: A Clinical Trial. Iranian Journal of Pediatrics 2018, 28, 1 .

AMA Style

Mahmoud Reza Ashrafi, Amin Shahrokhi, Alireza Tavasoli, Seyed Ahmad Hosseini, Morteza Heidari, Mona Salehi, Elnaz Fattah Dizaji, Man Amanat. The Efficacy of Cerebrolysin in Improvement of Spasticity in Children with Cerebral Palsy: A Clinical Trial. Iranian Journal of Pediatrics. 2018; 28 (1):1.

Chicago/Turabian Style

Mahmoud Reza Ashrafi; Amin Shahrokhi; Alireza Tavasoli; Seyed Ahmad Hosseini; Morteza Heidari; Mona Salehi; Elnaz Fattah Dizaji; Man Amanat. 2018. "The Efficacy of Cerebrolysin in Improvement of Spasticity in Children with Cerebral Palsy: A Clinical Trial." Iranian Journal of Pediatrics 28, no. 1: 1.

Journal article
Published: 15 January 2018 in Journal of Child Neurology
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Childhood leukodystrophies are a fast-growing field of pediatric neurology practice. Epidemiologic studies on the incidence of these disorders in children show different results. This is the first report of childhood leukodystrophies incidence from Iran. The enrolled patients were recruited from the neurometabolic bioregistry system that was organized in 2010 in the Children’s Medical Center, Tehran, Iran. Herein is reported the incidence rate of leukodystrophies in those patients who were residents of 2 big popular provinces near Iran’s capital city Tehran, with an average child population of 2 988 800 children. Ninety cases of leukodystrophies from Tehran and Alborz provinces who were registered between 2010 and 2016 in the bioregistry system were enrolled in this study. The annual incidence of inherited white matter disorders was 3.01/100 000, the highest number compared with those found in other studies using similar methods throughout the world. One of the main cause of this higher incidence could be the higher number of consanguineous marriages in Iran.

ACS Style

Mahmoud Reza Ashrafi; Zahra Rezaei; Morteza Heidari; Sedigheh Nikbakht; Reza Azizi Malamiri; Mahmoud Mohammadi; Gholam Reza Zamani; Reza Shervin Badv; Parastoo Rostami; Mojtaba Movahedinia; Mostafa Qorbani; Man Amanat; Ali Reza Tavasoli; Mahmoud Mohammady. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System. Journal of Child Neurology 2018, 33, 255 -259.

AMA Style

Mahmoud Reza Ashrafi, Zahra Rezaei, Morteza Heidari, Sedigheh Nikbakht, Reza Azizi Malamiri, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Parastoo Rostami, Mojtaba Movahedinia, Mostafa Qorbani, Man Amanat, Ali Reza Tavasoli, Mahmoud Mohammady. The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System. Journal of Child Neurology. 2018; 33 (4):255-259.

Chicago/Turabian Style

Mahmoud Reza Ashrafi; Zahra Rezaei; Morteza Heidari; Sedigheh Nikbakht; Reza Azizi Malamiri; Mahmoud Mohammadi; Gholam Reza Zamani; Reza Shervin Badv; Parastoo Rostami; Mojtaba Movahedinia; Mostafa Qorbani; Man Amanat; Ali Reza Tavasoli; Mahmoud Mohammady. 2018. "The First Report of Relative Incidence of Inherited White Matter Disorders in an Asian Country Based on an Iranian Bioregistry System." Journal of Child Neurology 33, no. 4: 255-259.