morteza heidari | Tehran University of Medical Sciences (original) (raw)

Papers by morteza heidari

Research paper thumbnail of Letter to the Editor on “Perspective: Therapeutic Potential of Flavonoids as Alternative Medicines in Epilepsy”

Advances in Nutrition, May 1, 2020

With great interest we read the article entitled "Perspective: Therapeutic Potential of Flavonoid... more With great interest we read the article entitled "Perspective: Therapeutic Potential of Flavonoids as Alternative Medicines in Epilepsy" by Kwon et al. (1). This article provides a comprehensive overview of the flavonoids and epilepsy. However, there are some concerns about the conclusion of the authors, particularly in the clinical aspect.

Research paper thumbnail of Focal Electrographic Hints in Epileptic Spasms

Journal of Pediatric Neurology and Neuroscience, 2022

Epileptic spasm (ES), one of the most common and catastrophic epilepsy syndromes predominantly in... more Epileptic spasm (ES), one of the most common and catastrophic epilepsy syndromes predominantly in infancy, is classified in focal, generalized and unknown onset groups [3]. The term of infantile spasms (IS) was suggested for the first time by International League Against Epilepsy (ILAE) workshop commission, 1991. ES is a widely accepted terminology instead of infantile spasms, to presenting a more

Research paper thumbnail of Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Annals of Neurology, 2021

A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards e... more A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twentyfour different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes. These findings highlight the diagnostic uplifts gained by analyzing mtDNA from WES data in neurological diseases.

Research paper thumbnail of Signs and symptoms of Neuroblastoma

Neuroblastoma is one of the most common malignant t umors in children that derived from the sympa... more Neuroblastoma is one of the most common malignant t umors in children that derived from the sympathetic nervous system. Neuroblastoma related s ymptoms are often non-specific, including poor feeding, weight loss, lethargy and fever. In genera l, overt symptoms may not occur until the tumor has reached a big size and/or developed metastases. Sign s and symptoms of Neuroblastoma are protean and many childhood oncologic and non-oncologic dise ases can mimic the features of Neuroblastoma symptoms. The purpose of this study was to assess t he signs and symptoms of Neuroblastoma at Shafa hospital in Khuzestan province. A retrospectiv e review was done in Neuroblastoma patient's documents who were admitted in Ahvaz Shafa hospital during 1991 March through 2008 March. The paraffinic blocks of tumoral tissue were analysed f or MYCN amplification by PCR in forty patients. Of 87 patients with Neuroblastoma, 43 (49.4%) was male and 44 (50.6%) was female. Mean age at diagnosis was 52.2 months. Diagnosis was establishe d in 5.7% up to 1 year of age, and 73.6% and 92% up to 5 and 10 years of age respectively. Diagnosis was carried only in 26.4% of patients up to 2 year s of old out. Sixty nine (69%) had got abdominal mass crossed the midline in 60% of cases. Fever was found in 62.1% of patients at diagnosis. Age at tim e of diagnosis of Neuroblastoma was significantly higher than other literatures, which somehow relate d to patient’s delay to refer. MYCN amplification was found from 3 to 2200, in 32 of the forty patien ts (80%).This study shows that most of the Neuroblastoma patients present with advance stages. So, awareness of general population and increase the knowledge of primary health profession als can provide the diagnosis at the earlier stages of disease.

Research paper thumbnail of Atrial Septal Defect Device Closure in a Patient With Lipomatous Hypertrophy of the Atrial Septum

Research paper thumbnail of Additional file 1 of ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Additional file 1: Supplementary Table S1. Sequences of the primers used to confirm the identifie... more Additional file 1: Supplementary Table S1. Sequences of the primers used to confirm the identified variant by Sanger sequencing.

Research paper thumbnail of Clinical and Brain Imaging Findings of Children with Acute Ataxia: Ten Years of Experience at a Major Pediatric Referral Center

Iranian Journal of Radiology

Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordi... more Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordinated movements. It is commonly associated with cerebellar disorders. Objectives: To evaluate the neuroimaging findings of children with acute ataxia (AA) and to identify the association between these findings and clinical results. Patients and Methods: This cross-sectional study was conducted using the electronic medical records of patients, presenting to a major pediatric referral center over 10 years from March 2009 to February 2020. Patients were included in the study if they were younger than 18 years, were diagnosed with AA (< 30 days), and underwent magnetic resonance imaging (MRI), computed tomography (CT) scan, or both. The exclusion criteria were as follows: A history of neurological or medical disorders, explaining ataxia; pseudo-ataxia; a traumatic brain injury; severe loss of consciousness; and missing key information in the medical records (e.g., no brain imaging finding...

Research paper thumbnail of Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC Medical Genomics

Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive d... more Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases. Case presentation Whole exome sequencing was performed for a 21-month-old girl suffering from developmental delay specifically in motor and language aspects, hypotonia, nystagmus, pes planus and strabismus. The detected variant in the patient was confirmed by family segregation analysis by Sanger sequencing in both of her parents. Previously three homozygous variants in the ATCAY gene (missense, splice site and frameshift deletion) have been reported in patients with Cayman cerebellar ataxia. Here we report the fourth homozygous variant and the second homozygous frameshift deletion in this gene to be associated with autosomal recessive Cayman cerebellar ataxia. Conclusion The identification of this no...

Research paper thumbnail of Virtual and In-person Electroencephalography (EEG) Training among Pediatric and Adult Neurology Residents during the COVID-19 Pandemic

Iranian Journal of Pediatrics, Jun 7, 2023

Background: During the COVID-19 pandemic, educational programs have increasingly relied on virtua... more Background: During the COVID-19 pandemic, educational programs have increasingly relied on virtual methods. Objectives: In this study, we compared the effects of in-person and virtual electroencephalography (EEG) training on the knowledge of pediatric and adult neurology residents. Methods: The study participants consisted of 30 pediatric and adult neurology residents who were recruited nationwide via a virtual network. They were randomly divided into two groups for in-person and virtual education, respectively. Prior to the first workshop session, participants completed a pre-test comprising 19 knowledge-related questions. Two interactive training sessions focusing on benign variants in EEG were conducted, including two in-person workshops for eight residents and two online workshops for 22 residents. Each session lasted one hour, with one held every two weeks. After the second session, participants were asked to complete a post-test consisting of 24 questions (identical to the pre-test) and five workshop satisfaction-related questions. Results: Overall, the mean exam score after both the in-person and virtual workshops was significantly higher than the pretest score across all educational levels. The mean score differences in knowledge between the in-person and virtual groups after the workshop were similar, with no statistically significant difference. Approximately 90% of the participants believed that the workshop would be beneficial for their daily practice. Conclusions: Given the absence of a significant difference between in-person and virtual training methods in improving participants' knowledge and satisfaction with both approaches, we recommend integrating virtual EEG training into the educational protocol for pediatric and adult neurology residents. Nonetheless, larger sample size studies are required to further validate these findings.

Research paper thumbnail of Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

Italian Journal of Pediatrics, Jun 6, 2023

Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chrom... more Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by myoclonic and generalized seizures with progressive neurological deterioration. SMA-PME is a clinically heterogeneous disorder that arises from biallelic pathogenic variants in ASAH1 gene. Methods Following clinical and primary laboratory assessments, whole-exome sequencing was performed to detect the disease-causing variants in three cases of SMA-PME from different families. Also, Multiplex ligation-dependent probe amplification (MLPA) was employed for determining the copy numbers of SMN1 and SMN2 genes to rule out 5q SMA. Results Exome sequencing revealed two different homozygous missense mutations (c.109 C > A [p.Pro37Thr] or c.125 C > T [p.Thr42Met]) in exon 2 of the ASAH1 gene in the affected members of the families. Sanger sequencing of the other family members showed the expected heterozygous carriers. In addition, no clinically relevant variant was identified in patients by MLPA. Conclusion This study describes two different ASAH1 mutations and the clinical picture of 3 SMA-PME patients. In addition, previously reported mutations have been reviewed. This study could help to fortify the database of this rare disease with more clinical and genomic data.

Research paper thumbnail of General Principles of the Medical Management of Epilepsy in Children: A Literature Review

DOAJ (DOAJ: Directory of Open Access Journals), Jun 1, 2018

The primary aim of epilepsy treatment is seizure control, and the treatment is principally prophy... more The primary aim of epilepsy treatment is seizure control, and the treatment is principally prophylactic. Although complete seizure control is the most important predictor of improved quality of life, antiepileptic drugs (AEDs) could cause severe side effects in the patients. Therefore, the risk-benefit ratio must be considered before the initiation of AED treatment. Accurate recognition and differentiation of epileptic and non-epileptic paroxysmal events and the diagnosis of the seizure type and epilepsy syndrome are essential procedures before AED treatment. It is often recommended that AED treatment start after two seizures, and being seizure-free for a minimum of two years is a prerequisite for treatment withdrawal. The AED treatment process must be initiated with a single drug at a low maintenance dose, along with further upward titration. Overall, the first attempt in AED treatment has been reported to effectively control seizures in 50-70% of the cases. Moreover, there is a consensus that being seizure-free for two years is the most valid approach to discontinue AED treatment. Approximately 50% of the children with epilepsy outgrow their disease. The present study aimed to provide a systematic method for the treatment and management of epilepsy in children.

Research paper thumbnail of Diagnosis of an abnormality in brain MRI

Research paper thumbnail of A novel pathogenic variant of <i>BRAT1</i> gene causes rigidity and multifocal seizure syndrome, lethal neonatal

International Journal of Neuroscience, Apr 29, 2020

Abstract Introduction Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a sever... more Abstract Introduction Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal seizures, apnea, and bradycardia at or soon after birth. RMFSL is related to BRCA1-associated ATM activator 1 (BRAT1) gene mutations. Methods An Iranian couple with history of infant death due to RMFSL was referred to our genetics lab for specialized genetic counseling and testing. Whole Exome Sequencing (WES) was applied. Following WES, Sanger sequencing was performed to confirm the candidate variant. Result A novel nonsense variant (c.2041G > T, p. E681X) was identified in exon 14 of the BRAT1 gene. Based on the American College of Medical Genetics and Genomics guideline this variant was classified as a pathogenic variant. Conclusion This research expands the spectrum of BRAT1 pathogenic variants in RMFSL syndrome and demonstrates the utility of WES in genetic diagnostic.

Research paper thumbnail of Clinical and Brain Imaging Findings of Children with Acute Ataxia: Ten Years of Experience at a Major Pediatric Referral Center

Iranian Journal of Radiology, Dec 10, 2022

Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordi... more Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordinated movements. It is commonly associated with cerebellar disorders. Objectives: To evaluate the neuroimaging findings of children with acute ataxia (AA) and to identify the association between these findings and clinical results. Patients and Methods: This cross-sectional study was conducted using the electronic medical records of patients, presenting to a major pediatric referral center over 10 years from March 2009 to February 2020. Patients were included in the study if they were younger than 18 years, were diagnosed with AA (< 30 days), and underwent magnetic resonance imaging (MRI), computed tomography (CT) scan, or both. The exclusion criteria were as follows: A history of neurological or medical disorders, explaining ataxia; pseudo-ataxia; a traumatic brain injury; severe loss of consciousness; and missing key information in the medical records (e.g., no brain imaging findings). Patient data, including the demographic data, clinical history, laboratory findings, imaging results, and in-hospital outcomes, were collected. A P-value less than 0.05 was considered statistically significant, and the confidence interval was set at 95%. Results: A total of 119 patients were included in this study (51% female; mean age, 4.9 years). Clinically urgent neurological pathology (CUNP) was detected in 37 (31.09%) patients. The most common pathologies on images were tumors, acute disseminated encephalomyelitis (ADEM), and stroke. However, the most common diagnosis was acute post-infectious cerebellar ataxia (APCA) (24.4%), followed by brain tumors (16.8%) and Guillain-Barre syndrome (GBS) (15.1%), respectively. Overall, 11 variables were significantly different between patients with and without CUNP. Most notably, the duration of symptoms (P < 0.01), ophthalmoplegia (odds ratio [OR] = 13.93; 95% confidence interval [CI]: 3.5-54.7), focal neurologic deficit (OR = 7.26; 95% CI: 2.6-20.5), and fever (OR = 3.33; 95% CI: 1.1-9.8) were associated with a higher risk of CUNP. On the other hand, some features, such as a recent history of febrile illness (presence of fever or body temperature above 38°C in the last month) (OR = 0.36; 95% CI: 0.16-0.8) and hyporeflexia (P < 0.01), were associated with a lower risk of CUNP. Conclusion: Acute post-infectious cerebellar ataxia was the most common diagnosis of AA in children, undergoing neuroimaging studies in our center. Nevertheless, tumor was the most common pathology detected on the images of patients with CUNP. Some pathologies might not be detected by some imaging modalities. Considering the associations identified in this study, patients with risk factors, such as a longer duration of symptoms, ophthalmoplegia, focal neurologic deficit, and fever, need to undergo another imaging modality with higher sensitivity if there are no positive findings in the initial imaging study. On the other hand, patients with protective factors, such as hyporeflexia and a recent history of febrile illness, could benefit more from other diagnostic modalities.

Research paper thumbnail of Incidence of neurological complications following pediatric heart surgery and its association with neutrophil‐to‐lymphocyte ratio

Health science reports, 2023

Background and AimsDue to increased rate of open‐heart surgeries in children, postsurgical mortal... more Background and AimsDue to increased rate of open‐heart surgeries in children, postsurgical mortality and morbidities have increasingly gained attention. Neurological complications are some of the most important postsurgical events. However, the number of studies regarding postsurgical neurological complications seems to be inadequate. We aimed to study the incidence of neurological complications following cardiac surgery in the pediatric cardiac intensive care unit (ICU) of the children's medical center.MethodsThis cross‐sectional study was conducted from March to September 2019. We included all of the children who underwent cardiac surgery and were admitted to ICU at CMC. We collected their demographic data, lab test results (white blood cell count, absolute neutrophile and lymphocyte counts) and calculated their Risk Adjustment for Congenital Heart Surgery (RACHS) score. We then documented neurological adverse events and investigated the associations between those events and the patients' data.ResultsOf the 267 studied patients, 14 developed neurological complications (5.2%); seven developed chorea (2.6%), four developed seizures (1.5%), and two developed both seizure and chorea (0.7%). One case developed subarachnoid hemorrhage (SAH). We observed that age (p = 0.000), weight (p = 0.000), and RACHS score (p = 0.006) were associated with the development of neurological complications. Additionally, we observed that “neutrophil to lymphocyte ratio” was not associated with the risk of postsurgical neurological complications.ConclusionYounger age, lower weight, and higher RACHS score were associated with neurological complications after operations. Given the importance of postsurgical neurological complications, further investigations should be carried out to cover this issue and discover preventive strategies for such morbidities.

Research paper thumbnail of Childhood <scp>Guillain–Barre</scp> syndrome in the <scp>SARS‐CoV</scp> ‐2 era: Is there any causative relation?

Clinical Case Reports, Dec 1, 2022

We reported an association between SARS‐CoV‐2 infection and Guillain–Barre syndrome (GBS). From 3... more We reported an association between SARS‐CoV‐2 infection and Guillain–Barre syndrome (GBS). From 37 patients with GBS, previous SARS‐CoV‐2 clinical clues, including fever, cough, and diarrhea, were recorded in 18 patients. Among them, SARS‐CoV‐2 IgG was detected in seven patients, considered confirmed as cases. SARS‐CoV‐2 PCR was positive in just one patient. Although we found no increase in patient recruitment during the pandemic compared to previous years, our study indicated that SARS‐CoV‐2 is associated with poorer outcomes regarding GBS disability scale and hospital stay.

Research paper thumbnail of Efficacy and Safety of Cinnarizine in the Prophylaxis of Migraine in Children: A Double-Blind Placebo-Controlled Randomized Trial

Pediatric Neurology, Oct 1, 2014

In spite of the high occurrence of migraine headaches in school-age children, there are currently... more In spite of the high occurrence of migraine headaches in school-age children, there are currently no approved and widely accepted pharmacologic agents for migraine prophylaxis in children. Our previous open-label study in children revealed the efficacy of cinnarizine, a calcium channel blocker, in migraine prophylaxis. A placebo-controlled trial was conducted to demonstrate the efficacy and safety of cinnarizine in the prophylaxis of migraine in children. A double-blind, placebo-controlled, parallel-group study conducted in a tertiary medical center in Tehran, Iran. Children (5-17 years) who experienced migraines with and without aura, as defined on the basis of 2004 International Headache Society criteria, were recruited into the study. Children were excluded if they had complicated migraine, epilepsy, or a history of use of migraine prophylactic agents. Each participant was randomly assigned to receive cinnarizine (a single 1.5 mg/kg/day dose in children weighing less than 30 kg and a single 50 mg dose in children weighing more than 30 kg, administered at bedtime) or placebo. The frequency, severity, and duration of headaches over the trial period were assessed and adverse effects were monitored. A total of 68 children (34 in each group) with migraine were enrolled and 62 participants completed the study. After 3 months of taking cinnarizine or placebo, children in both groups experienced significantly reduced frequency, severity, and duration of headaches compared with baseline measurements (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). However, compared with 31.3% of children in the placebo group, 60% of children in the cinnarizine group reported more than 50% reduction in monthly headache frequency (P = 0.023), suggesting that cinnarizine was significantly more effective than placebo in reducing the frequency of headaches. No serious adverse effects of the medications were observed in the treated children, including no abnormal weight gain or extrapyramidal signs. Our results indicate that the use of cinnarizine at doses administered in this study is effective and safe for prophylaxis of migraine headaches in children.

Research paper thumbnail of A survey of high-level resistance to gentamicin and aminoglycoside-modifying enzyme-encoding genes in Enterococcus faecalis and Enterococcus faecium isolated from infected burn wounds

New Cellular and Molecular Biotechnology Journal, Dec 10, 2018

Research paper thumbnail of Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study

Archives of Iranian Medicine

Background: COVID-19 infection and its neurological manifestations were seen in children although... more Background: COVID-19 infection and its neurological manifestations were seen in children although less common than adults. The aim of this study was to determine the frequency of different types of neurologic findings of hospitalized children with COVID-19. ] Methods: This retrospective study was performed on hospitalized pediatric patients aged≤18 years with confirmed SARS-CoV-2 at Children’s Medical Center Hospital. Neurological manifestations were defined as the presence of any of the following symptoms: seizure, altered mental status, behavioral/personality change, ataxia, stroke, muscle weakness, smell and taste dysfunctions, and focal neurological disorders. Results: Fifty-four children with COVID-19 were admitted and their mean age was 6.94±4.06 years. Thirty-four of them (63%) were male. The most frequent neurological manifestation was seizure (19 [45%]) followed by muscle weakness (11 [26%]), loss of consciousness (10 [23%]), and focal neurological disorders (10 [23%]). Oth...

Research paper thumbnail of Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature

Irish Journal of Medical Science (1971 -)

Research paper thumbnail of Letter to the Editor on “Perspective: Therapeutic Potential of Flavonoids as Alternative Medicines in Epilepsy”

Advances in Nutrition, May 1, 2020

With great interest we read the article entitled "Perspective: Therapeutic Potential of Flavonoid... more With great interest we read the article entitled "Perspective: Therapeutic Potential of Flavonoids as Alternative Medicines in Epilepsy" by Kwon et al. (1). This article provides a comprehensive overview of the flavonoids and epilepsy. However, there are some concerns about the conclusion of the authors, particularly in the clinical aspect.

Research paper thumbnail of Focal Electrographic Hints in Epileptic Spasms

Journal of Pediatric Neurology and Neuroscience, 2022

Epileptic spasm (ES), one of the most common and catastrophic epilepsy syndromes predominantly in... more Epileptic spasm (ES), one of the most common and catastrophic epilepsy syndromes predominantly in infancy, is classified in focal, generalized and unknown onset groups [3]. The term of infantile spasms (IS) was suggested for the first time by International League Against Epilepsy (ILAE) workshop commission, 1991. ES is a widely accepted terminology instead of infantile spasms, to presenting a more

Research paper thumbnail of Mitochondrial D NA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological Diseases

Annals of Neurology, 2021

A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards e... more A rapidly expanding catalog of neurogenetic disorders has encouraged a diagnostic shift towards early clinical whole exome sequencing (WES). Adult primary mitochondrial diseases (PMDs) frequently exhibit neurological manifestations that overlap with other nervous system disorders. However, mitochondrial DNA (mtDNA) is not routinely analyzed in standard clinical WES bioinformatic pipelines. We reanalyzed 11,424 exomes, enriched with neurological diseases, for pathogenic mtDNA variants. Twentyfour different mtDNA mutations were detected in 64 exomes, 11 of which were considered disease causing based on the associated clinical phenotypes. These findings highlight the diagnostic uplifts gained by analyzing mtDNA from WES data in neurological diseases.

Research paper thumbnail of Signs and symptoms of Neuroblastoma

Neuroblastoma is one of the most common malignant t umors in children that derived from the sympa... more Neuroblastoma is one of the most common malignant t umors in children that derived from the sympathetic nervous system. Neuroblastoma related s ymptoms are often non-specific, including poor feeding, weight loss, lethargy and fever. In genera l, overt symptoms may not occur until the tumor has reached a big size and/or developed metastases. Sign s and symptoms of Neuroblastoma are protean and many childhood oncologic and non-oncologic dise ases can mimic the features of Neuroblastoma symptoms. The purpose of this study was to assess t he signs and symptoms of Neuroblastoma at Shafa hospital in Khuzestan province. A retrospectiv e review was done in Neuroblastoma patient's documents who were admitted in Ahvaz Shafa hospital during 1991 March through 2008 March. The paraffinic blocks of tumoral tissue were analysed f or MYCN amplification by PCR in forty patients. Of 87 patients with Neuroblastoma, 43 (49.4%) was male and 44 (50.6%) was female. Mean age at diagnosis was 52.2 months. Diagnosis was establishe d in 5.7% up to 1 year of age, and 73.6% and 92% up to 5 and 10 years of age respectively. Diagnosis was carried only in 26.4% of patients up to 2 year s of old out. Sixty nine (69%) had got abdominal mass crossed the midline in 60% of cases. Fever was found in 62.1% of patients at diagnosis. Age at tim e of diagnosis of Neuroblastoma was significantly higher than other literatures, which somehow relate d to patient’s delay to refer. MYCN amplification was found from 3 to 2200, in 32 of the forty patien ts (80%).This study shows that most of the Neuroblastoma patients present with advance stages. So, awareness of general population and increase the knowledge of primary health profession als can provide the diagnosis at the earlier stages of disease.

Research paper thumbnail of Atrial Septal Defect Device Closure in a Patient With Lipomatous Hypertrophy of the Atrial Septum

Research paper thumbnail of Additional file 1 of ACER3-related leukoencephalopathy: expanding the clinical and imaging findings spectrum due to novel variants

Additional file 1: Supplementary Table S1. Sequences of the primers used to confirm the identifie... more Additional file 1: Supplementary Table S1. Sequences of the primers used to confirm the identified variant by Sanger sequencing.

Research paper thumbnail of Clinical and Brain Imaging Findings of Children with Acute Ataxia: Ten Years of Experience at a Major Pediatric Referral Center

Iranian Journal of Radiology

Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordi... more Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordinated movements. It is commonly associated with cerebellar disorders. Objectives: To evaluate the neuroimaging findings of children with acute ataxia (AA) and to identify the association between these findings and clinical results. Patients and Methods: This cross-sectional study was conducted using the electronic medical records of patients, presenting to a major pediatric referral center over 10 years from March 2009 to February 2020. Patients were included in the study if they were younger than 18 years, were diagnosed with AA (< 30 days), and underwent magnetic resonance imaging (MRI), computed tomography (CT) scan, or both. The exclusion criteria were as follows: A history of neurological or medical disorders, explaining ataxia; pseudo-ataxia; a traumatic brain injury; severe loss of consciousness; and missing key information in the medical records (e.g., no brain imaging finding...

Research paper thumbnail of Novel homozygous frameshift variant in the ATCAY gene in an Iranian patient with Cayman cerebellar ataxia; expanding the neuroimaging and clinical features: a case report

BMC Medical Genomics

Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive d... more Background Pathogenic variants in the ATCAY gene are associated with a rare autosomal recessive disorder called Cayman cerebellar ataxia. Affected individuals display psychomotor retardation, cerebellar dysfunction, nystagmus, intention tremor, ataxic gait and dysarthric in some cases. Case presentation Whole exome sequencing was performed for a 21-month-old girl suffering from developmental delay specifically in motor and language aspects, hypotonia, nystagmus, pes planus and strabismus. The detected variant in the patient was confirmed by family segregation analysis by Sanger sequencing in both of her parents. Previously three homozygous variants in the ATCAY gene (missense, splice site and frameshift deletion) have been reported in patients with Cayman cerebellar ataxia. Here we report the fourth homozygous variant and the second homozygous frameshift deletion in this gene to be associated with autosomal recessive Cayman cerebellar ataxia. Conclusion The identification of this no...

Research paper thumbnail of Virtual and In-person Electroencephalography (EEG) Training among Pediatric and Adult Neurology Residents during the COVID-19 Pandemic

Iranian Journal of Pediatrics, Jun 7, 2023

Background: During the COVID-19 pandemic, educational programs have increasingly relied on virtua... more Background: During the COVID-19 pandemic, educational programs have increasingly relied on virtual methods. Objectives: In this study, we compared the effects of in-person and virtual electroencephalography (EEG) training on the knowledge of pediatric and adult neurology residents. Methods: The study participants consisted of 30 pediatric and adult neurology residents who were recruited nationwide via a virtual network. They were randomly divided into two groups for in-person and virtual education, respectively. Prior to the first workshop session, participants completed a pre-test comprising 19 knowledge-related questions. Two interactive training sessions focusing on benign variants in EEG were conducted, including two in-person workshops for eight residents and two online workshops for 22 residents. Each session lasted one hour, with one held every two weeks. After the second session, participants were asked to complete a post-test consisting of 24 questions (identical to the pre-test) and five workshop satisfaction-related questions. Results: Overall, the mean exam score after both the in-person and virtual workshops was significantly higher than the pretest score across all educational levels. The mean score differences in knowledge between the in-person and virtual groups after the workshop were similar, with no statistically significant difference. Approximately 90% of the participants believed that the workshop would be beneficial for their daily practice. Conclusions: Given the absence of a significant difference between in-person and virtual training methods in improving participants' knowledge and satisfaction with both approaches, we recommend integrating virtual EEG training into the educational protocol for pediatric and adult neurology residents. Nonetheless, larger sample size studies are required to further validate these findings.

Research paper thumbnail of Spinal Muscular Atrophy with Progressive Myoclonic Epilepsy (SMA-PME): three new cases and review of the mutational spectrum

Italian Journal of Pediatrics, Jun 6, 2023

Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chrom... more Background Spinal muscular atrophy (SMA) could be classified as 5q and non-5q, based on the chromosomal location of causative genes. A rare form of non-5q SMA is an autosomal-recessive condition called spinal muscular atrophy with progressive myoclonic epilepsy (SMA-PME), phenotypically characterized by myoclonic and generalized seizures with progressive neurological deterioration. SMA-PME is a clinically heterogeneous disorder that arises from biallelic pathogenic variants in ASAH1 gene. Methods Following clinical and primary laboratory assessments, whole-exome sequencing was performed to detect the disease-causing variants in three cases of SMA-PME from different families. Also, Multiplex ligation-dependent probe amplification (MLPA) was employed for determining the copy numbers of SMN1 and SMN2 genes to rule out 5q SMA. Results Exome sequencing revealed two different homozygous missense mutations (c.109 C > A [p.Pro37Thr] or c.125 C > T [p.Thr42Met]) in exon 2 of the ASAH1 gene in the affected members of the families. Sanger sequencing of the other family members showed the expected heterozygous carriers. In addition, no clinically relevant variant was identified in patients by MLPA. Conclusion This study describes two different ASAH1 mutations and the clinical picture of 3 SMA-PME patients. In addition, previously reported mutations have been reviewed. This study could help to fortify the database of this rare disease with more clinical and genomic data.

Research paper thumbnail of General Principles of the Medical Management of Epilepsy in Children: A Literature Review

DOAJ (DOAJ: Directory of Open Access Journals), Jun 1, 2018

The primary aim of epilepsy treatment is seizure control, and the treatment is principally prophy... more The primary aim of epilepsy treatment is seizure control, and the treatment is principally prophylactic. Although complete seizure control is the most important predictor of improved quality of life, antiepileptic drugs (AEDs) could cause severe side effects in the patients. Therefore, the risk-benefit ratio must be considered before the initiation of AED treatment. Accurate recognition and differentiation of epileptic and non-epileptic paroxysmal events and the diagnosis of the seizure type and epilepsy syndrome are essential procedures before AED treatment. It is often recommended that AED treatment start after two seizures, and being seizure-free for a minimum of two years is a prerequisite for treatment withdrawal. The AED treatment process must be initiated with a single drug at a low maintenance dose, along with further upward titration. Overall, the first attempt in AED treatment has been reported to effectively control seizures in 50-70% of the cases. Moreover, there is a consensus that being seizure-free for two years is the most valid approach to discontinue AED treatment. Approximately 50% of the children with epilepsy outgrow their disease. The present study aimed to provide a systematic method for the treatment and management of epilepsy in children.

Research paper thumbnail of Diagnosis of an abnormality in brain MRI

Research paper thumbnail of A novel pathogenic variant of <i>BRAT1</i> gene causes rigidity and multifocal seizure syndrome, lethal neonatal

International Journal of Neuroscience, Apr 29, 2020

Abstract Introduction Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a sever... more Abstract Introduction Lethal neonatal rigidity and multifocal seizure syndrome (RMFSL) is a severe autosomal recessive epileptic encephalopathy characterized by microcephaly, rigidity, intractable focal seizures, apnea, and bradycardia at or soon after birth. RMFSL is related to BRCA1-associated ATM activator 1 (BRAT1) gene mutations. Methods An Iranian couple with history of infant death due to RMFSL was referred to our genetics lab for specialized genetic counseling and testing. Whole Exome Sequencing (WES) was applied. Following WES, Sanger sequencing was performed to confirm the candidate variant. Result A novel nonsense variant (c.2041G > T, p. E681X) was identified in exon 14 of the BRAT1 gene. Based on the American College of Medical Genetics and Genomics guideline this variant was classified as a pathogenic variant. Conclusion This research expands the spectrum of BRAT1 pathogenic variants in RMFSL syndrome and demonstrates the utility of WES in genetic diagnostic.

Research paper thumbnail of Clinical and Brain Imaging Findings of Children with Acute Ataxia: Ten Years of Experience at a Major Pediatric Referral Center

Iranian Journal of Radiology, Dec 10, 2022

Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordi... more Background: Ataxia is a symptom of a wide range of disorders, which manifests as a lack of coordinated movements. It is commonly associated with cerebellar disorders. Objectives: To evaluate the neuroimaging findings of children with acute ataxia (AA) and to identify the association between these findings and clinical results. Patients and Methods: This cross-sectional study was conducted using the electronic medical records of patients, presenting to a major pediatric referral center over 10 years from March 2009 to February 2020. Patients were included in the study if they were younger than 18 years, were diagnosed with AA (< 30 days), and underwent magnetic resonance imaging (MRI), computed tomography (CT) scan, or both. The exclusion criteria were as follows: A history of neurological or medical disorders, explaining ataxia; pseudo-ataxia; a traumatic brain injury; severe loss of consciousness; and missing key information in the medical records (e.g., no brain imaging findings). Patient data, including the demographic data, clinical history, laboratory findings, imaging results, and in-hospital outcomes, were collected. A P-value less than 0.05 was considered statistically significant, and the confidence interval was set at 95%. Results: A total of 119 patients were included in this study (51% female; mean age, 4.9 years). Clinically urgent neurological pathology (CUNP) was detected in 37 (31.09%) patients. The most common pathologies on images were tumors, acute disseminated encephalomyelitis (ADEM), and stroke. However, the most common diagnosis was acute post-infectious cerebellar ataxia (APCA) (24.4%), followed by brain tumors (16.8%) and Guillain-Barre syndrome (GBS) (15.1%), respectively. Overall, 11 variables were significantly different between patients with and without CUNP. Most notably, the duration of symptoms (P < 0.01), ophthalmoplegia (odds ratio [OR] = 13.93; 95% confidence interval [CI]: 3.5-54.7), focal neurologic deficit (OR = 7.26; 95% CI: 2.6-20.5), and fever (OR = 3.33; 95% CI: 1.1-9.8) were associated with a higher risk of CUNP. On the other hand, some features, such as a recent history of febrile illness (presence of fever or body temperature above 38°C in the last month) (OR = 0.36; 95% CI: 0.16-0.8) and hyporeflexia (P < 0.01), were associated with a lower risk of CUNP. Conclusion: Acute post-infectious cerebellar ataxia was the most common diagnosis of AA in children, undergoing neuroimaging studies in our center. Nevertheless, tumor was the most common pathology detected on the images of patients with CUNP. Some pathologies might not be detected by some imaging modalities. Considering the associations identified in this study, patients with risk factors, such as a longer duration of symptoms, ophthalmoplegia, focal neurologic deficit, and fever, need to undergo another imaging modality with higher sensitivity if there are no positive findings in the initial imaging study. On the other hand, patients with protective factors, such as hyporeflexia and a recent history of febrile illness, could benefit more from other diagnostic modalities.

Research paper thumbnail of Incidence of neurological complications following pediatric heart surgery and its association with neutrophil‐to‐lymphocyte ratio

Health science reports, 2023

Background and AimsDue to increased rate of open‐heart surgeries in children, postsurgical mortal... more Background and AimsDue to increased rate of open‐heart surgeries in children, postsurgical mortality and morbidities have increasingly gained attention. Neurological complications are some of the most important postsurgical events. However, the number of studies regarding postsurgical neurological complications seems to be inadequate. We aimed to study the incidence of neurological complications following cardiac surgery in the pediatric cardiac intensive care unit (ICU) of the children's medical center.MethodsThis cross‐sectional study was conducted from March to September 2019. We included all of the children who underwent cardiac surgery and were admitted to ICU at CMC. We collected their demographic data, lab test results (white blood cell count, absolute neutrophile and lymphocyte counts) and calculated their Risk Adjustment for Congenital Heart Surgery (RACHS) score. We then documented neurological adverse events and investigated the associations between those events and the patients' data.ResultsOf the 267 studied patients, 14 developed neurological complications (5.2%); seven developed chorea (2.6%), four developed seizures (1.5%), and two developed both seizure and chorea (0.7%). One case developed subarachnoid hemorrhage (SAH). We observed that age (p = 0.000), weight (p = 0.000), and RACHS score (p = 0.006) were associated with the development of neurological complications. Additionally, we observed that “neutrophil to lymphocyte ratio” was not associated with the risk of postsurgical neurological complications.ConclusionYounger age, lower weight, and higher RACHS score were associated with neurological complications after operations. Given the importance of postsurgical neurological complications, further investigations should be carried out to cover this issue and discover preventive strategies for such morbidities.

Research paper thumbnail of Childhood <scp>Guillain–Barre</scp> syndrome in the <scp>SARS‐CoV</scp> ‐2 era: Is there any causative relation?

Clinical Case Reports, Dec 1, 2022

We reported an association between SARS‐CoV‐2 infection and Guillain–Barre syndrome (GBS). From 3... more We reported an association between SARS‐CoV‐2 infection and Guillain–Barre syndrome (GBS). From 37 patients with GBS, previous SARS‐CoV‐2 clinical clues, including fever, cough, and diarrhea, were recorded in 18 patients. Among them, SARS‐CoV‐2 IgG was detected in seven patients, considered confirmed as cases. SARS‐CoV‐2 PCR was positive in just one patient. Although we found no increase in patient recruitment during the pandemic compared to previous years, our study indicated that SARS‐CoV‐2 is associated with poorer outcomes regarding GBS disability scale and hospital stay.

Research paper thumbnail of Efficacy and Safety of Cinnarizine in the Prophylaxis of Migraine in Children: A Double-Blind Placebo-Controlled Randomized Trial

Pediatric Neurology, Oct 1, 2014

In spite of the high occurrence of migraine headaches in school-age children, there are currently... more In spite of the high occurrence of migraine headaches in school-age children, there are currently no approved and widely accepted pharmacologic agents for migraine prophylaxis in children. Our previous open-label study in children revealed the efficacy of cinnarizine, a calcium channel blocker, in migraine prophylaxis. A placebo-controlled trial was conducted to demonstrate the efficacy and safety of cinnarizine in the prophylaxis of migraine in children. A double-blind, placebo-controlled, parallel-group study conducted in a tertiary medical center in Tehran, Iran. Children (5-17 years) who experienced migraines with and without aura, as defined on the basis of 2004 International Headache Society criteria, were recruited into the study. Children were excluded if they had complicated migraine, epilepsy, or a history of use of migraine prophylactic agents. Each participant was randomly assigned to receive cinnarizine (a single 1.5 mg/kg/day dose in children weighing less than 30 kg and a single 50 mg dose in children weighing more than 30 kg, administered at bedtime) or placebo. The frequency, severity, and duration of headaches over the trial period were assessed and adverse effects were monitored. A total of 68 children (34 in each group) with migraine were enrolled and 62 participants completed the study. After 3 months of taking cinnarizine or placebo, children in both groups experienced significantly reduced frequency, severity, and duration of headaches compared with baseline measurements (P &amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;amp;lt; 0.001). However, compared with 31.3% of children in the placebo group, 60% of children in the cinnarizine group reported more than 50% reduction in monthly headache frequency (P = 0.023), suggesting that cinnarizine was significantly more effective than placebo in reducing the frequency of headaches. No serious adverse effects of the medications were observed in the treated children, including no abnormal weight gain or extrapyramidal signs. Our results indicate that the use of cinnarizine at doses administered in this study is effective and safe for prophylaxis of migraine headaches in children.

Research paper thumbnail of A survey of high-level resistance to gentamicin and aminoglycoside-modifying enzyme-encoding genes in Enterococcus faecalis and Enterococcus faecium isolated from infected burn wounds

New Cellular and Molecular Biotechnology Journal, Dec 10, 2018

Research paper thumbnail of Neurologic Manifestations of Coronavirus Disease 2019 in Children: An Iranian Hospital-Based Study

Archives of Iranian Medicine

Background: COVID-19 infection and its neurological manifestations were seen in children although... more Background: COVID-19 infection and its neurological manifestations were seen in children although less common than adults. The aim of this study was to determine the frequency of different types of neurologic findings of hospitalized children with COVID-19. ] Methods: This retrospective study was performed on hospitalized pediatric patients aged≤18 years with confirmed SARS-CoV-2 at Children’s Medical Center Hospital. Neurological manifestations were defined as the presence of any of the following symptoms: seizure, altered mental status, behavioral/personality change, ataxia, stroke, muscle weakness, smell and taste dysfunctions, and focal neurological disorders. Results: Fifty-four children with COVID-19 were admitted and their mean age was 6.94±4.06 years. Thirty-four of them (63%) were male. The most frequent neurological manifestation was seizure (19 [45%]) followed by muscle weakness (11 [26%]), loss of consciousness (10 [23%]), and focal neurological disorders (10 [23%]). Oth...

Research paper thumbnail of Persistent basal ganglia involvement in aminoacylase-1 deficiency: expanding imaging findings and review of literature

Irish Journal of Medical Science (1971 -)