Farzad Ahmadabadi - Academia.edu (original) (raw)

Papers by Farzad Ahmadabadi

Research paper thumbnail of Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study

Iranian Journal of Medical Sciences, 2023

Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 20... more Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 2019 (COVID-19) became a pandemic and caused a global health crisis. This study evaluates the immunogenic potential of the Mediterranean fever (MEFV) gene in patients with COVID-19. Methods: A cross-sectional study was conducted from March to April 2020 in various COVID-19 referral centers in Ardabil, Iran. Blood samples of 50 hospitalized patients with confirmed COVID-19 were evaluated for MEFV gene mutation using the amplification refractory mutation system polymerase chain reaction (ARMS-PCR) and Sanger sequencing. Statistical analysis was performed using SPSS software, version 22.0. Results: Mutations of the MEFV gene were found in 6 (12%) of the patients. All mutations were heterozygous, and no homozygous or compound heterozygous forms were detected. The total mutant allele frequency was 6% and the carrier rate was 12%. The most common allele of the MEFV variant was E148Q, detected in 3 (6%) patients. No mutant variant of the MEFV gene was detected in deceased patients. None of the mutation carriers had familial Mediterranean fever (FMF) symptoms or a family history of FMF. Conclusion: MEFV gene mutations may have immunogenic potential in patients with COVID-19. A preprint version of this article has already been published at https://www.researchsquare.com/article/rs-69373/latest.pdf.

Research paper thumbnail of Treatment of Child Gratification Disorder

PubMed, 2022

Objectives: Gratification disorder is a group of self-stimulatory behaviors tending to form a hab... more Objectives: Gratification disorder is a group of self-stimulatory behaviors tending to form a habit. These normal behaviors are common and have various differential diagnoses, including epilepsy. Hence, misdiagnosis may lead to performing unnecessary workups and treatments. In this article, we systematically reviewed available treatment options for gratification disorder. Materials & methods: We systematically searched Scopus, MEDLINE, and Embase for related articles published from the beginning to 12th May 2021. We followed the search strategy in all electronic databases using keywords ["Self-gratification" AND "treatment"], ["child" AND "masturbation" AND "treatment"], ["Pediatric" AND "masturbation" AND "treatment"], ["infantile" AND "masturbation" AND "treatment"], and ["Benign" AND "Infantile" AND "Dyskinesia" AND "treatment"]. Results: The primary search yielded 241 studies. Five studies fulfilled the inclusion criteria and were used in the systematic review. None of the studies provided a good level of evidence. These studies indicated that behavioral therapy, escitalopram, and aripiprazole could be considered treatment options. Conclusion: Although pediatricians are familiar with gratification behaviors, their optimal management is overlooked. In addition to parental education and behavioral therapy, escitalopram and aripiprazole can be used as treatment options for this issue. We need to perform well-designed randomized controlled trials to obtain adequate evidence on the efficacy of these measures.

Research paper thumbnail of Three Cases of Acute Necrotizing Encephalopathy: Is It an Epidemic or Only Incidental?

PubMed, 2020

Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory... more Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory or gastrointestinal infection, accompanied with fever, rapid alteration of consciousness, and seizures. The clinical characteristics of ANEC include acute encephalopathy following a viral infection, seizure, altered consciousness, and absence of cerebrospinal fluid (CSF) pleocytosis, with an occasional increase in the level of proteins. This disease is almost exclusively seen in previously healthy infants and children from East Asia. Serial magnetic resonance imaging (MRI) examinations have demonstrated symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. ANEC has a poor prognosis with high morbidity and mortality rates. Herein, we present three cases of ANEC, who were referred to Bu-Ali Hospital of Ardabil, Iran during two weeks. Report of these three cases promoted the idea of an epidemic. The purpose of this case series was to raise the issue that ANEC may occur as an epidemic.

Research paper thumbnail of Prognostic value of peripheral blood eosinophil count on first day of infancy in the incidence of neonatal hyperbilirubinemia

International Journal of Scientific Reports, Apr 25, 2018

Background: Neonatal jaundice is one of the most common problems in the neonatal period. Eosinoph... more Background: Neonatal jaundice is one of the most common problems in the neonatal period. Eosinophilia is common in preterm and term newborns, and it is considered when the absolute count of eosinophil is ≥500 cell/mm 3. It is thought that there was some relationship between hyperbilirubinemia and increasing of blood eosinophil count in newborns hospitalized by jaundice. The aim of this study was to determine the prognostic value of peripheral blood eosinophil count on first day of infancy in the incidence of neonatal hyperbilirubinemia. Methods: 150 newborns with gestational ages of 35-40 weeks, born in Ardabil city hospital, were engaged in this study. After obtaining the parents' consent, getting patients biography and their physical examination, we got a blood sample from umbilical cord of newborns to measure differential count of white blood cells. The neonates were observed up to 28 day followed. Then, second blood test conducted for the purpose of measuring serum level of bilirubin. Data were analyzed by statistical methods in SPSS version 19. Results: Various group of age, sex, blood type and gestational age showed no significant difference in their eosinophil rate. Total serum bilirubin doesn't had a significant relationship with gestational age, sex, type of delivery and major or minor blood groups of neonates. Conclusions: Results showed that there was no significant relationship between the amount of eosinophil in newborn umbilical cord and total serum bilirubin. So, we could say that newborns eosinophil count isn't a good criteria for predicating the appearance of neonate hyperbilirubinemia.

Research paper thumbnail of Are There Neurological Symptoms in Type 1 of Gaucher Disease?

PubMed, 2018

Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid stora... more Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Materials & methods: Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran. We included eight patients with GD 1 and three patients with GD3. Careful neurological examination was performed on these patients during treatment by pediatric neurologist. Results: Patients with GD1 had some neurological symptoms including cognitive impairment, developmental disability, behavioral disorder, microcephaly and increased deep tendon reflexes (DTR). Of course, neurological signs in patients with type 3 of GD were different and were included seizures, supranuclear gaze palsy, cerebellar signs, and ataxia. Conclusion: The current nomenclature for 3 types of Gaucher disease does not meet all clinical symptoms. Patients with GD1 display many neurological deficits in young ages not reported adequately earlier.

Research paper thumbnail of Study on MRI changes in phenylketonuria in patients referred to mofid hospital/iran

PubMed, 2014

Objective: Phenylketonuria is one of the most common metabolic disorders and the first known caus... more Objective: Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal regions in T2-weighted (T2W) and FLAIR sequences of brain MRI. The aim of our study was to assess MRI changes in PKU patients referred to Mofid Children's Hospital, 2010-2011. Materials & methods: We studied all PKU cases referred to our clinic as a referral neurometabolic center in Iran for brain MRI and assessed the phenylalanine level at the time of Imaging. The mean phenylalanine level (in one year), clinical manifestations, and MRI pattern based on Thompson scoring, were evaluated. Results: The mean age of our study group was 155±99 months and the mean diagnosis age was 37±27.85 months. There were 15 patients with positive and 15 with negative family history. The mean phenylalanine level at the time of imaging was 9.75±6.28 and the mean 1 year phenylalanine level was 10.28±4.82. Seventy percent of our patients had MRI involvement, in whom 20% showed atrophic changes, in addition to white matter involvement. Based on modified Thompson scoring, the score for our study group was 4.84. The maximum involvement in MRI was in occipital region, followed by parietal, frontal, and temporal zones. There was not any correlation between MRI score and patients' age. But we found significant relationship between MRI score and the age of regimen cessation. No correlation was seen between phenylalanine level (at the time of Imaging) and MRI score. But there was a relationship between mean 1 year phenylalanine level and MRI score. Conclusion: According to the results of this study, brain MRI and white matter involvement can be used for evaluation of long-term control of phenylalanine level in PKU cases.

Research paper thumbnail of Comparison of neonatal electroencephalogram changes in three month old neonates with seizure in Bu-Ali Hospital of Ardabil city, Iran 2017

International Journal of Contemporary Pediatrics, Mar 21, 2020

Seizures are one of the most common problems in neonates and sometimes it's the first symptom of ... more Seizures are one of the most common problems in neonates and sometimes it's the first symptom of neurological dysfunction in neonates with a prevalence of 1.4-8.6 per 1000 live births. 1-5 In most cases, neonatal seizures improve by age, but in 25% to 35% of cases, neurological developmental defects persist. 6 Neonatal seizures develop due to various causes such as hypoxic-ischemic encephalopathy, central nervous system infection, intracranial hemorrhage, brain structural abnormalities, and metabolic disorders that among them, hypoxic-ischemic encephalopathy is the most common cause and accounts for 50-75% of all causes. 1 In most cases, the diagnosis of neonatal seizures is based on history, direct observation, and para-clinical findings, and in the absence of timely diagnosis and treatment, it can be associated with increased mortality and persistent ABSTRACT Background: The prevalence of neonatal seizure in term neonates is 3 per 1000 births, but in preterm newborns is 50 per 1000 births. Babies who have seizures are at high risk of death or neurological disabilities. Seizure is often the first sign of neonatal dysfunction and may be effective in long-term prognosis. EEG is the only available method for the diagnosis of seizures in neonates. The aim of this study was to Comparison of EEG changes in neonatal period and three months of age in patients with history of neonatal seizure. Therefore, authors compared EEG changes in the first EEG infant seizure with 3 months of age in newborns who referred to the Aristotelian hospital in Bouali Hospital. Methods: The present study is a cross-sectional descriptive analytical method. In this study, neonates referred to Ardabil Booali Hospital, EEG, were screened for seizure and EEG was monitored 3 months later and the results were evaluated. Finally, all the data were entered into the SPSS-24 statistical analysis program and authors analyzed the data according to the type of variables by statistical tests. Results: In this study, 50 neonates with seizure were enrolled in this study, 70% of which had an average age of 14.92 days. 80% of infants were born at the time of term. The average birth weight was 3.208 kg. 6.2% of infants had abnormal CT scan findings, with an IVH infant and one baby showing brain edema. In this study, only 14% of neonates with abnormal brain strain were observed in the neonatal period and near the seizure. However, after 3 months, 40% of infants experienced abnormal brain stroke findings. Among the changes in EEG with age (p=0.173), gestational age (p=0.616), gender (p=0.176), seizure (p=0.145), neonatal hypoglycemia (p=0.594), hypocalcaemia (p=0.607) no statistic was found. Conclusions: The results of this study showed that a small percentage of neonates had abnormal EEG in the neonate, but after 3 months of seizure, the larger percentage of them found abnormal EEG.

Research paper thumbnail of Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Human Genetics, Apr 19, 2023

Research paper thumbnail of Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial glia

medRxiv (Cold Spring Harbor Laboratory), Apr 29, 2023

Research paper thumbnail of The Efficacy of Zinc Sulfate in Prevention of Febrile Convulsion Recurrences

DOAJ (DOAJ: Directory of Open Access Journals), 2014

Background: Seizure is accompany with neurons function disorder and abnormal electrical action. H... more Background: Seizure is accompany with neurons function disorder and abnormal electrical action. However, febrile convulsion seizure is usually benign and causes no important problem for patients; but all children with febrile convulsion are usually faced with behavior disorders. In these patients, prophylaxis and anti-convulsion drugs are used. This study aimed to survey the efficacy of zinc sulfate in prevention of febrile convulsion recurrences. Methods: In this clinical trial study, 80 children the same in age and gender, after passing inclusion and exclusion criteria were divided in two equal groups: drugs and placebo. We got blood samples of both groups and checked serum zinc level after release, prescribed zinc syrup for case and placebo for control group. After a year, we measured serum zinc level in patients and finally we analyzed the data. Findings: In case group, 27 (67.5%) and in control 24 (60%) children were boys. The mean age was 28.90 ± 16.19 and 27.65 ± 13.47 months in case and control groups, respectively (P = 0.709). The mean zinc level was 75.36 ± 8.12 and 73.21 ± 7.32 µg/dl in case and control groups, respectively. In case group, 7 patients and in control group, 10 had seizure recurrences in a year (P = 0.412). There was no relationship between recurrences and age or gender; but the first and the last measured level of zinc and the amount of increase of zinc level in children with recurrence were significantly less than the children without it. Conclusion: In current study, we observed that zinc sulfate syrup could not decrease the seizure recurrences related to insufficient serum zinc level, probably because of incorrect drug using or secondary decrease of serum zinc level in these children.

Research paper thumbnail of 3 Cases of Acute necrotizing encephalopathy,is this an epidemic or just an incidental?

Iranian journal of child neurology, Mar 9, 2020

Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory... more Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory or gastrointestinal infection, accompanied with fever, rapid alteration of consciousness, and seizures. The clinical characteristics of ANEC include acute encephalopathy following a viral infection, seizure, altered consciousness, and absence of cerebrospinal fluid (CSF) pleocytosis, with an occasional increase in the level of proteins. This disease is almost exclusively seen in previously healthy infants and children from East Asia. Serial magnetic resonance imaging (MRI) examinations have demonstrated symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. ANEC has a poor prognosis with high morbidity and mortality rates. Herein, we present three cases of ANEC, who were referred to Bu-Ali Hospital of Ardabil, Iran during two weeks. Report of these three cases promoted the idea of an epidemic. The purpose of this case series was to raise the issue that ANEC may occur as an epidemic.

Research paper thumbnail of Frequency, causes, and findings of brain CT scans of neonatal seizure at Ardabil City Hospital, Ardabil, Iran

International Surgery Journal, Jul 23, 2020

Neonatal seizures are the primary and most important signs of neural function disorders that ofte... more Neonatal seizures are the primary and most important signs of neural function disorders that often lead to serious neural complications. However, these disorders are predictable and manageable with suitable diagnostic and therapeutic methods. If left untreated, neonatal seizures can cause irreversible damage to the neural system and put neonates at risk of death. Furthermore, those that survive would be at risk of epilepsy, and neurological and developmental disorders. 1 Seizures are categorized as attack disorders meaning that it leads to sudden and reversible changes in the mental status and somatosensory performance of the individual. They have a repetitive nature and last from several seconds to several minutes, end quickly and return to the natural status gradually. Seizures that originate from a cerebrovascular region are called localized and those originating simultaneously from both lobes are called generalized seizures. Seizures can be categorized generalized categories including absence, tonic, clonic, petit-mal, myoclonic, atonic, and focal or partial seizures. 2 Neonatal seizures are clinically referred to the abnormal and repetitive changes that occur in the brain function in ABSTRACT Background: Neonatal seizures are the primary and most important signs of neurologic function disorders that often lead to serious complications. However, this disorder is predictable and manageable with suitable diagnostic and therapeutic methods. The aim of this study was to investigate the frequency, causes, and findings of brain CT scans of neonatal seizure. Methods: This descriptive cross-sectional study has been done on 70 neonates with seizures who hospitalized in Ardabil city hospital during 2016-2017. CT scans were done for all patients. Necessary information for each patient was recorded in a checklist including demographic data, history of diabetes mellitus, hypertension, and maternal endocrine disorders, and history of resuscitation and clinical data including type of seizure and its duration, Cause of seizure and CT scan findings (cerebral hemorrhage, local ischemic lesions, hypoxemic-ischemic encephalopathy, and anatomical cerebral malformations). Results: The mean age of neonates was 12.41±9.33 days. Of them, 61.4% were boys, 3.24% LBW and 40% were preterm at birth time. Of all neonates, 21.4% had history of seizure in their relative degree family members. Fever was the most common symptom accompanying seizures (40%). The most common form was tonic seizure (n=30, 42.9%) and its duration time was 4.99 minute. A total of 41.4% of neonates (29 cases) had abnormal CT scan reports. Hypoxic-ischemic encephalopathy (47%) was the most common findings in the CT scans of neonates with seizures. Conclusions: Results showed that, a considerable number of neonates had abnormal CT findings and the most common abnormal form was hypoxemic-ischemic encephalopathy.

Research paper thumbnail of Comparison of the efficacy of Clofibrate with Phenobarbital in decreasing neonatal hyperbilirubinemia

Iranian Journal of Neonatology IJN, Oct 1, 2013

Background: Hyperbilirubinemia is a common problem in newborn infants. It can progress to kernict... more Background: Hyperbilirubinemia is a common problem in newborn infants. It can progress to kernicterus in severe forms, unless an intervention is initiated. The objective of this study was to compare the efficacy of Clofibrate with Phenobarbital in full-term neonates with nonhemolytic jaundice. Methods: this double blind clinical trial study was performed on 60 neonate who were divided randomly in two groups of full-term jaundiced neonates: the clofibrate-treated group (n = 30) and the Phenobarbital group (n = 30). Infants in the clofibrate group received a single oral dose of 100 mg.kg clofibrate while the neonates in the Phenobarbital group received a single oral dose of 5 mg.kg Phenobarbital; both groups received phototherapy. Total serum and direct bilirubin levels were measured at the beginning, 12 and 24 hours after the initiation of treatment. Results: The mean ± SD total serum bilirubin level of the Phenobarbital group and clofibrate groups at enrollment was 17.84 ± 1.017 and 18.04 ±0.852 mg.dL, respectively. The mean ± SD total serum bilirubin in Phenobarbital group and clofibrate groups after 24 hours was 11.11 ± 1.273 and 12.55 ± 1.008 mg.dL, respectively (P = 0.000). After 72 hours of intervention, 25 (83%) neonates of the Phenobarbital group and 23 (76%) of the clofibrate group were discharged with a total serum bilirubin of <10 mg.dL (P = 0.000). No side-effect was observed on serial examination during hospitalization, and on the first and seventh day after discharge. Conclusion: Phenobarbital in the compared with clofibrate results in a faster decline in total serum bilirubin, shorter duration of hospitalization and had no side effects in jaundiced full-term neonates.

Research paper thumbnail of PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD?

Research in Pediatrics & Neonatology, 2018

We present a female patient with a new mutation in PEX12 gene, and her clinical, biochemical assa... more We present a female patient with a new mutation in PEX12 gene, and her clinical, biochemical assay and neuro imaging will be discussed. Ethical approval for this study was obtained by Pediatric neurology Research Center of Shahid Beheshti University of Medical sciences (SBMU).

Research paper thumbnail of Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Research paper thumbnail of Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia

PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiolog... more PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we report 12 individuals from 10 unrelated families with biallelic ultra-rare variants inPNPLA8presenting with a wide spectrum of clinical features ranging from developmental and epileptic-dyskinetic encephalopathy (DEDE) to progressive movement disorders and no phenotype depending on the variants and their positions. Complete loss of PNPLA8 was associated with the severe end of the spectrum, showing DEDE manifestations and congenital or progressive microcephaly. Using cerebral organoids generated from human induced pluripotent stem cells, we found that loss of PNPLA8 reduced the number of basal radial glial cells (bRGCs) and upper-layer neurons. By spatial transcriptomic analysis targeting apical radial glial cells (aRGCs), we found the downregulation of ...

Research paper thumbnail of ORIGINAL REPORT The Effect of Clofibrate on Hyperbilirubinemia of Term Neonates

Clofibrate is a glucuronosyl transferase inducer that has been proposed to increase the eliminati... more Clofibrate is a glucuronosyl transferase inducer that has been proposed to increase the elimination of bilirubin in neonates with hyperbilirubinemia. This study was conducted to determine the therapeutic effect of clofibrate in term neonates with non-hemolytic jaundice. This study was conducted on 52 newborns with pathologic unconjugated jaundice in Qazvin children hospital. Newborns divided randomly in two groups. Case group treated with clofibrate and intensive phototherapy, while control group treated only with intensive phototherapy. Serum bilirubin level was measured before and 6, 12, 24 and 48 hours after treatment. Results were compared and analyzed. The mean serum level of bilirubin before treatment in the case and control groups were 20.78±2.38 and 20.52±2.44 mg/dl, respectively (P=0.69). The mean serum level of bilirubin in 6, 12, 24 and 48 hours after treatment in the case group were 18.20±2.20, 14.70±2.06, 10.72±2.40 and 8.90±0.83 mg/dl , respectively. These values in co...

Research paper thumbnail of Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

Iranian Journal of Child Neurology, 2014

Objective Propionic acidemia is one of the rare congenital neurometabolic disorders with autosoma... more Objective Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Materials & Methods The patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and neuroimaging manifestations in 10 patients with propionic acidemia. Results Seventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection t...

Research paper thumbnail of Efficacy of Addition of Atomoxetine to Speech Therapy in Stuttering Severity of Children Aged 4-12 Years: A Double-Blind Randomized Controlled Trial

Iranian journal of child neurology, 2022

Research paper thumbnail of Gain and transient photoresponse of quantum well infrared photodetectors: a detailed ensemble Monte Carlo study

Physica E: Low-dimensional Systems and Nanostructures, 2004

Research paper thumbnail of Immunogenic Potential of the Mediterranean Fever Gene in Patients with Coronavirus Disease: A Cross-Sectional Study

Iranian Journal of Medical Sciences, 2023

Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 20... more Background: In December 2019, an outbreak of pneumonia caused by the novel coronavirus disease 2019 (COVID-19) became a pandemic and caused a global health crisis. This study evaluates the immunogenic potential of the Mediterranean fever (MEFV) gene in patients with COVID-19. Methods: A cross-sectional study was conducted from March to April 2020 in various COVID-19 referral centers in Ardabil, Iran. Blood samples of 50 hospitalized patients with confirmed COVID-19 were evaluated for MEFV gene mutation using the amplification refractory mutation system polymerase chain reaction (ARMS-PCR) and Sanger sequencing. Statistical analysis was performed using SPSS software, version 22.0. Results: Mutations of the MEFV gene were found in 6 (12%) of the patients. All mutations were heterozygous, and no homozygous or compound heterozygous forms were detected. The total mutant allele frequency was 6% and the carrier rate was 12%. The most common allele of the MEFV variant was E148Q, detected in 3 (6%) patients. No mutant variant of the MEFV gene was detected in deceased patients. None of the mutation carriers had familial Mediterranean fever (FMF) symptoms or a family history of FMF. Conclusion: MEFV gene mutations may have immunogenic potential in patients with COVID-19. A preprint version of this article has already been published at https://www.researchsquare.com/article/rs-69373/latest.pdf.

Research paper thumbnail of Treatment of Child Gratification Disorder

PubMed, 2022

Objectives: Gratification disorder is a group of self-stimulatory behaviors tending to form a hab... more Objectives: Gratification disorder is a group of self-stimulatory behaviors tending to form a habit. These normal behaviors are common and have various differential diagnoses, including epilepsy. Hence, misdiagnosis may lead to performing unnecessary workups and treatments. In this article, we systematically reviewed available treatment options for gratification disorder. Materials & methods: We systematically searched Scopus, MEDLINE, and Embase for related articles published from the beginning to 12th May 2021. We followed the search strategy in all electronic databases using keywords ["Self-gratification" AND "treatment"], ["child" AND "masturbation" AND "treatment"], ["Pediatric" AND "masturbation" AND "treatment"], ["infantile" AND "masturbation" AND "treatment"], and ["Benign" AND "Infantile" AND "Dyskinesia" AND "treatment"]. Results: The primary search yielded 241 studies. Five studies fulfilled the inclusion criteria and were used in the systematic review. None of the studies provided a good level of evidence. These studies indicated that behavioral therapy, escitalopram, and aripiprazole could be considered treatment options. Conclusion: Although pediatricians are familiar with gratification behaviors, their optimal management is overlooked. In addition to parental education and behavioral therapy, escitalopram and aripiprazole can be used as treatment options for this issue. We need to perform well-designed randomized controlled trials to obtain adequate evidence on the efficacy of these measures.

Research paper thumbnail of Three Cases of Acute Necrotizing Encephalopathy: Is It an Epidemic or Only Incidental?

PubMed, 2020

Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory... more Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory or gastrointestinal infection, accompanied with fever, rapid alteration of consciousness, and seizures. The clinical characteristics of ANEC include acute encephalopathy following a viral infection, seizure, altered consciousness, and absence of cerebrospinal fluid (CSF) pleocytosis, with an occasional increase in the level of proteins. This disease is almost exclusively seen in previously healthy infants and children from East Asia. Serial magnetic resonance imaging (MRI) examinations have demonstrated symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. ANEC has a poor prognosis with high morbidity and mortality rates. Herein, we present three cases of ANEC, who were referred to Bu-Ali Hospital of Ardabil, Iran during two weeks. Report of these three cases promoted the idea of an epidemic. The purpose of this case series was to raise the issue that ANEC may occur as an epidemic.

Research paper thumbnail of Prognostic value of peripheral blood eosinophil count on first day of infancy in the incidence of neonatal hyperbilirubinemia

International Journal of Scientific Reports, Apr 25, 2018

Background: Neonatal jaundice is one of the most common problems in the neonatal period. Eosinoph... more Background: Neonatal jaundice is one of the most common problems in the neonatal period. Eosinophilia is common in preterm and term newborns, and it is considered when the absolute count of eosinophil is ≥500 cell/mm 3. It is thought that there was some relationship between hyperbilirubinemia and increasing of blood eosinophil count in newborns hospitalized by jaundice. The aim of this study was to determine the prognostic value of peripheral blood eosinophil count on first day of infancy in the incidence of neonatal hyperbilirubinemia. Methods: 150 newborns with gestational ages of 35-40 weeks, born in Ardabil city hospital, were engaged in this study. After obtaining the parents' consent, getting patients biography and their physical examination, we got a blood sample from umbilical cord of newborns to measure differential count of white blood cells. The neonates were observed up to 28 day followed. Then, second blood test conducted for the purpose of measuring serum level of bilirubin. Data were analyzed by statistical methods in SPSS version 19. Results: Various group of age, sex, blood type and gestational age showed no significant difference in their eosinophil rate. Total serum bilirubin doesn't had a significant relationship with gestational age, sex, type of delivery and major or minor blood groups of neonates. Conclusions: Results showed that there was no significant relationship between the amount of eosinophil in newborn umbilical cord and total serum bilirubin. So, we could say that newborns eosinophil count isn't a good criteria for predicating the appearance of neonate hyperbilirubinemia.

Research paper thumbnail of Are There Neurological Symptoms in Type 1 of Gaucher Disease?

PubMed, 2018

Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid stora... more Objective: Gaucher disease (GD) is a rare inborn error of metabolism, classified as a lipid storage disorders. This disease is caused by a deficiency in glucocerebrosidase enzyme. It has been classified according to the presence or absence of neurological symptoms into the following types: type 1 non-neuropathic, type 2 acute infantile neuropathic and type 3 or chronic neuropathic. We evaluated neurological symptoms in patients with GD1 and GD3 and compared both of these groups. Materials & methods: Eleven patients were identified according to their clinical presentation and the presence of disease confirmed by genetic testing, from 2006-2016, at the Mofid Children Hospital Clinic, Tehran, Iran. We included eight patients with GD 1 and three patients with GD3. Careful neurological examination was performed on these patients during treatment by pediatric neurologist. Results: Patients with GD1 had some neurological symptoms including cognitive impairment, developmental disability, behavioral disorder, microcephaly and increased deep tendon reflexes (DTR). Of course, neurological signs in patients with type 3 of GD were different and were included seizures, supranuclear gaze palsy, cerebellar signs, and ataxia. Conclusion: The current nomenclature for 3 types of Gaucher disease does not meet all clinical symptoms. Patients with GD1 display many neurological deficits in young ages not reported adequately earlier.

Research paper thumbnail of Study on MRI changes in phenylketonuria in patients referred to mofid hospital/iran

PubMed, 2014

Objective: Phenylketonuria is one of the most common metabolic disorders and the first known caus... more Objective: Phenylketonuria is one of the most common metabolic disorders and the first known cause of mental retardation in pediatrics. As Screening for phenylketonuria (PKU) is not a routine neurometabolic screening test for neonates in Iran, many PKU cases may be diagnosed after developing the clinical symptoms. One of the findings of PKU is myelination disorders, which is seen as hypersignal regions in T2-weighted (T2W) and FLAIR sequences of brain MRI. The aim of our study was to assess MRI changes in PKU patients referred to Mofid Children's Hospital, 2010-2011. Materials & methods: We studied all PKU cases referred to our clinic as a referral neurometabolic center in Iran for brain MRI and assessed the phenylalanine level at the time of Imaging. The mean phenylalanine level (in one year), clinical manifestations, and MRI pattern based on Thompson scoring, were evaluated. Results: The mean age of our study group was 155±99 months and the mean diagnosis age was 37±27.85 months. There were 15 patients with positive and 15 with negative family history. The mean phenylalanine level at the time of imaging was 9.75±6.28 and the mean 1 year phenylalanine level was 10.28±4.82. Seventy percent of our patients had MRI involvement, in whom 20% showed atrophic changes, in addition to white matter involvement. Based on modified Thompson scoring, the score for our study group was 4.84. The maximum involvement in MRI was in occipital region, followed by parietal, frontal, and temporal zones. There was not any correlation between MRI score and patients' age. But we found significant relationship between MRI score and the age of regimen cessation. No correlation was seen between phenylalanine level (at the time of Imaging) and MRI score. But there was a relationship between mean 1 year phenylalanine level and MRI score. Conclusion: According to the results of this study, brain MRI and white matter involvement can be used for evaluation of long-term control of phenylalanine level in PKU cases.

Research paper thumbnail of Comparison of neonatal electroencephalogram changes in three month old neonates with seizure in Bu-Ali Hospital of Ardabil city, Iran 2017

International Journal of Contemporary Pediatrics, Mar 21, 2020

Seizures are one of the most common problems in neonates and sometimes it's the first symptom of ... more Seizures are one of the most common problems in neonates and sometimes it's the first symptom of neurological dysfunction in neonates with a prevalence of 1.4-8.6 per 1000 live births. 1-5 In most cases, neonatal seizures improve by age, but in 25% to 35% of cases, neurological developmental defects persist. 6 Neonatal seizures develop due to various causes such as hypoxic-ischemic encephalopathy, central nervous system infection, intracranial hemorrhage, brain structural abnormalities, and metabolic disorders that among them, hypoxic-ischemic encephalopathy is the most common cause and accounts for 50-75% of all causes. 1 In most cases, the diagnosis of neonatal seizures is based on history, direct observation, and para-clinical findings, and in the absence of timely diagnosis and treatment, it can be associated with increased mortality and persistent ABSTRACT Background: The prevalence of neonatal seizure in term neonates is 3 per 1000 births, but in preterm newborns is 50 per 1000 births. Babies who have seizures are at high risk of death or neurological disabilities. Seizure is often the first sign of neonatal dysfunction and may be effective in long-term prognosis. EEG is the only available method for the diagnosis of seizures in neonates. The aim of this study was to Comparison of EEG changes in neonatal period and three months of age in patients with history of neonatal seizure. Therefore, authors compared EEG changes in the first EEG infant seizure with 3 months of age in newborns who referred to the Aristotelian hospital in Bouali Hospital. Methods: The present study is a cross-sectional descriptive analytical method. In this study, neonates referred to Ardabil Booali Hospital, EEG, were screened for seizure and EEG was monitored 3 months later and the results were evaluated. Finally, all the data were entered into the SPSS-24 statistical analysis program and authors analyzed the data according to the type of variables by statistical tests. Results: In this study, 50 neonates with seizure were enrolled in this study, 70% of which had an average age of 14.92 days. 80% of infants were born at the time of term. The average birth weight was 3.208 kg. 6.2% of infants had abnormal CT scan findings, with an IVH infant and one baby showing brain edema. In this study, only 14% of neonates with abnormal brain strain were observed in the neonatal period and near the seizure. However, after 3 months, 40% of infants experienced abnormal brain stroke findings. Among the changes in EEG with age (p=0.173), gestational age (p=0.616), gender (p=0.176), seizure (p=0.145), neonatal hypoglycemia (p=0.594), hypocalcaemia (p=0.607) no statistic was found. Conclusions: The results of this study showed that a small percentage of neonates had abnormal EEG in the neonate, but after 3 months of seizure, the larger percentage of them found abnormal EEG.

Research paper thumbnail of Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Human Genetics, Apr 19, 2023

Research paper thumbnail of Biallelic null variants in<i>PNPLA8</i>cause microcephaly through the reduced abundance of basal radial glia

medRxiv (Cold Spring Harbor Laboratory), Apr 29, 2023

Research paper thumbnail of The Efficacy of Zinc Sulfate in Prevention of Febrile Convulsion Recurrences

DOAJ (DOAJ: Directory of Open Access Journals), 2014

Background: Seizure is accompany with neurons function disorder and abnormal electrical action. H... more Background: Seizure is accompany with neurons function disorder and abnormal electrical action. However, febrile convulsion seizure is usually benign and causes no important problem for patients; but all children with febrile convulsion are usually faced with behavior disorders. In these patients, prophylaxis and anti-convulsion drugs are used. This study aimed to survey the efficacy of zinc sulfate in prevention of febrile convulsion recurrences. Methods: In this clinical trial study, 80 children the same in age and gender, after passing inclusion and exclusion criteria were divided in two equal groups: drugs and placebo. We got blood samples of both groups and checked serum zinc level after release, prescribed zinc syrup for case and placebo for control group. After a year, we measured serum zinc level in patients and finally we analyzed the data. Findings: In case group, 27 (67.5%) and in control 24 (60%) children were boys. The mean age was 28.90 ± 16.19 and 27.65 ± 13.47 months in case and control groups, respectively (P = 0.709). The mean zinc level was 75.36 ± 8.12 and 73.21 ± 7.32 µg/dl in case and control groups, respectively. In case group, 7 patients and in control group, 10 had seizure recurrences in a year (P = 0.412). There was no relationship between recurrences and age or gender; but the first and the last measured level of zinc and the amount of increase of zinc level in children with recurrence were significantly less than the children without it. Conclusion: In current study, we observed that zinc sulfate syrup could not decrease the seizure recurrences related to insufficient serum zinc level, probably because of incorrect drug using or secondary decrease of serum zinc level in these children.

Research paper thumbnail of 3 Cases of Acute necrotizing encephalopathy,is this an epidemic or just an incidental?

Iranian journal of child neurology, Mar 9, 2020

Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory... more Acute necrotizing encephalopathy of childhood (ANEC) is a disease, characterized by a respiratory or gastrointestinal infection, accompanied with fever, rapid alteration of consciousness, and seizures. The clinical characteristics of ANEC include acute encephalopathy following a viral infection, seizure, altered consciousness, and absence of cerebrospinal fluid (CSF) pleocytosis, with an occasional increase in the level of proteins. This disease is almost exclusively seen in previously healthy infants and children from East Asia. Serial magnetic resonance imaging (MRI) examinations have demonstrated symmetric lesions involving the thalami, brainstem, cerebellum, and white matter. ANEC has a poor prognosis with high morbidity and mortality rates. Herein, we present three cases of ANEC, who were referred to Bu-Ali Hospital of Ardabil, Iran during two weeks. Report of these three cases promoted the idea of an epidemic. The purpose of this case series was to raise the issue that ANEC may occur as an epidemic.

Research paper thumbnail of Frequency, causes, and findings of brain CT scans of neonatal seizure at Ardabil City Hospital, Ardabil, Iran

International Surgery Journal, Jul 23, 2020

Neonatal seizures are the primary and most important signs of neural function disorders that ofte... more Neonatal seizures are the primary and most important signs of neural function disorders that often lead to serious neural complications. However, these disorders are predictable and manageable with suitable diagnostic and therapeutic methods. If left untreated, neonatal seizures can cause irreversible damage to the neural system and put neonates at risk of death. Furthermore, those that survive would be at risk of epilepsy, and neurological and developmental disorders. 1 Seizures are categorized as attack disorders meaning that it leads to sudden and reversible changes in the mental status and somatosensory performance of the individual. They have a repetitive nature and last from several seconds to several minutes, end quickly and return to the natural status gradually. Seizures that originate from a cerebrovascular region are called localized and those originating simultaneously from both lobes are called generalized seizures. Seizures can be categorized generalized categories including absence, tonic, clonic, petit-mal, myoclonic, atonic, and focal or partial seizures. 2 Neonatal seizures are clinically referred to the abnormal and repetitive changes that occur in the brain function in ABSTRACT Background: Neonatal seizures are the primary and most important signs of neurologic function disorders that often lead to serious complications. However, this disorder is predictable and manageable with suitable diagnostic and therapeutic methods. The aim of this study was to investigate the frequency, causes, and findings of brain CT scans of neonatal seizure. Methods: This descriptive cross-sectional study has been done on 70 neonates with seizures who hospitalized in Ardabil city hospital during 2016-2017. CT scans were done for all patients. Necessary information for each patient was recorded in a checklist including demographic data, history of diabetes mellitus, hypertension, and maternal endocrine disorders, and history of resuscitation and clinical data including type of seizure and its duration, Cause of seizure and CT scan findings (cerebral hemorrhage, local ischemic lesions, hypoxemic-ischemic encephalopathy, and anatomical cerebral malformations). Results: The mean age of neonates was 12.41±9.33 days. Of them, 61.4% were boys, 3.24% LBW and 40% were preterm at birth time. Of all neonates, 21.4% had history of seizure in their relative degree family members. Fever was the most common symptom accompanying seizures (40%). The most common form was tonic seizure (n=30, 42.9%) and its duration time was 4.99 minute. A total of 41.4% of neonates (29 cases) had abnormal CT scan reports. Hypoxic-ischemic encephalopathy (47%) was the most common findings in the CT scans of neonates with seizures. Conclusions: Results showed that, a considerable number of neonates had abnormal CT findings and the most common abnormal form was hypoxemic-ischemic encephalopathy.

Research paper thumbnail of Comparison of the efficacy of Clofibrate with Phenobarbital in decreasing neonatal hyperbilirubinemia

Iranian Journal of Neonatology IJN, Oct 1, 2013

Background: Hyperbilirubinemia is a common problem in newborn infants. It can progress to kernict... more Background: Hyperbilirubinemia is a common problem in newborn infants. It can progress to kernicterus in severe forms, unless an intervention is initiated. The objective of this study was to compare the efficacy of Clofibrate with Phenobarbital in full-term neonates with nonhemolytic jaundice. Methods: this double blind clinical trial study was performed on 60 neonate who were divided randomly in two groups of full-term jaundiced neonates: the clofibrate-treated group (n = 30) and the Phenobarbital group (n = 30). Infants in the clofibrate group received a single oral dose of 100 mg.kg clofibrate while the neonates in the Phenobarbital group received a single oral dose of 5 mg.kg Phenobarbital; both groups received phototherapy. Total serum and direct bilirubin levels were measured at the beginning, 12 and 24 hours after the initiation of treatment. Results: The mean ± SD total serum bilirubin level of the Phenobarbital group and clofibrate groups at enrollment was 17.84 ± 1.017 and 18.04 ±0.852 mg.dL, respectively. The mean ± SD total serum bilirubin in Phenobarbital group and clofibrate groups after 24 hours was 11.11 ± 1.273 and 12.55 ± 1.008 mg.dL, respectively (P = 0.000). After 72 hours of intervention, 25 (83%) neonates of the Phenobarbital group and 23 (76%) of the clofibrate group were discharged with a total serum bilirubin of <10 mg.dL (P = 0.000). No side-effect was observed on serial examination during hospitalization, and on the first and seventh day after discharge. Conclusion: Phenobarbital in the compared with clofibrate results in a faster decline in total serum bilirubin, shorter duration of hospitalization and had no side effects in jaundiced full-term neonates.

Research paper thumbnail of PEX12 Novel Mutation: A Case Report on Iranian Girl with Childhood Onset Peroxisomal Disorder: Pseudo ALD?

Research in Pediatrics & Neonatology, 2018

We present a female patient with a new mutation in PEX12 gene, and her clinical, biochemical assa... more We present a female patient with a new mutation in PEX12 gene, and her clinical, biochemical assay and neuro imaging will be discussed. Ethical approval for this study was obtained by Pediatric neurology Research Center of Shahid Beheshti University of Medical sciences (SBMU).

Research paper thumbnail of Clinical and genetic characterization of neuronal ceroid lipofuscinoses (NCLs) in 29 Iranian patients: identification of 11 novel mutations

Research paper thumbnail of Biallelic null variants inPNPLA8cause microcephaly through the reduced abundance of basal radial glia

PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiolog... more PNPLA8, one of the calcium-independent phospholipase A2 enzymes, is involved in various physiological processes through the maintenance of membrane phospholipids. However, little is known about its role in brain development. Here, we report 12 individuals from 10 unrelated families with biallelic ultra-rare variants inPNPLA8presenting with a wide spectrum of clinical features ranging from developmental and epileptic-dyskinetic encephalopathy (DEDE) to progressive movement disorders and no phenotype depending on the variants and their positions. Complete loss of PNPLA8 was associated with the severe end of the spectrum, showing DEDE manifestations and congenital or progressive microcephaly. Using cerebral organoids generated from human induced pluripotent stem cells, we found that loss of PNPLA8 reduced the number of basal radial glial cells (bRGCs) and upper-layer neurons. By spatial transcriptomic analysis targeting apical radial glial cells (aRGCs), we found the downregulation of ...

Research paper thumbnail of ORIGINAL REPORT The Effect of Clofibrate on Hyperbilirubinemia of Term Neonates

Clofibrate is a glucuronosyl transferase inducer that has been proposed to increase the eliminati... more Clofibrate is a glucuronosyl transferase inducer that has been proposed to increase the elimination of bilirubin in neonates with hyperbilirubinemia. This study was conducted to determine the therapeutic effect of clofibrate in term neonates with non-hemolytic jaundice. This study was conducted on 52 newborns with pathologic unconjugated jaundice in Qazvin children hospital. Newborns divided randomly in two groups. Case group treated with clofibrate and intensive phototherapy, while control group treated only with intensive phototherapy. Serum bilirubin level was measured before and 6, 12, 24 and 48 hours after treatment. Results were compared and analyzed. The mean serum level of bilirubin before treatment in the case and control groups were 20.78±2.38 and 20.52±2.44 mg/dl, respectively (P=0.69). The mean serum level of bilirubin in 6, 12, 24 and 48 hours after treatment in the case group were 18.20±2.20, 14.70±2.06, 10.72±2.40 and 8.90±0.83 mg/dl , respectively. These values in co...

Research paper thumbnail of Propionic Acidemia: Diagnosis and Neuroimaging Findings of This Neurometabolic Disorder

Iranian Journal of Child Neurology, 2014

Objective Propionic acidemia is one of the rare congenital neurometabolic disorders with autosoma... more Objective Propionic acidemia is one of the rare congenital neurometabolic disorders with autosomal recessive inheritance. This disorder is caused by a defect in the propionyl-CoA carboxylase enzyme and can be presented with life-threatening ketoacidosis, lethargy, failure to thrive, and developmental delay. Materials & Methods The patients diagnosed as having propionic acidemia in Neurology Department of Mofid Children’s Hospital in Tehran, Iran, between 2002 and 2012 were include in our study. This disorder was confirmed by clinical manifestations, neuroimaging findings, and neurometabolic assessment in the reference laboratory in Germany. Our study was conducted to define the sex, age, gender, past medical history, developmental status, clinical findings, and neuroimaging manifestations in 10 patients with propionic acidemia. Results Seventy percent of patients were offspring of consanguineous marriages. In this study, only one patient had microcephaly at birth, but at detection t...

Research paper thumbnail of Efficacy of Addition of Atomoxetine to Speech Therapy in Stuttering Severity of Children Aged 4-12 Years: A Double-Blind Randomized Controlled Trial

Iranian journal of child neurology, 2022

Research paper thumbnail of Gain and transient photoresponse of quantum well infrared photodetectors: a detailed ensemble Monte Carlo study

Physica E: Low-dimensional Systems and Nanostructures, 2004