Sareh Hosseinpour - Academia.edu (original) (raw)
Papers by Sareh Hosseinpour
Journal of Clinical Laboratory Analysis
BackgroundNARS2 encodes mitochondrial Asparaginyl‐tRNA Synthetase 2, which catalyzes the aminoacy... more BackgroundNARS2 encodes mitochondrial Asparaginyl‐tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA‐Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2‐associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2.MethodsThe spectrum of clinical manifestations of two Iranian patients was investigated and genetic analysis was performed by Whole‐exome sequencing (WES). Additionally, we also reviewed the literature and summarized the phenotypes of previously reported patients with variants in the NARS2 gene.ResultsHere, we present the phenotypic and genetic features of 2 unrelated Iranian infants presented with neurodevelopmental delay, seizures, hearing impairment, feeding pro...
Molecular Syndromology
Introduction: TPP1 variants have been identified as a causative agent of neuronal ceroid lipofusc... more Introduction: TPP1 variants have been identified as a causative agent of neuronal ceroid lipofuscinosis 2 disease, that ataxia is one of its clinical features. Therefore, here, molecular study of TPP1 variants is presented in an Iranian cohort and a novel pathogenic variant is described. Methods: This investigation was conducted as a cross-sectional study in a tertiary referral hospital, Children’s Medical Center, Pediatrics Center of Excellence. Clinical presentations and pedigrees were documented. Patients with cerebellar ataxia were enrolled in this study. Next-generation sequencing was applied to confirm the diagnosis. Segregation and bioinformatics analyses were also done for the variants using Sanger sequencing. Results: Forty-five patients were included in our study. The mean age of onset was 104 (+55.60) months (minimum = 31 months, maximum = 216 months). The majority of cases (73.3%) were born to consanguineous parents and only 1 patient (2.2%) had an affected sibling. Of t...
DOAJ (DOAJ: Directory of Open Access Journals), Mar 1, 2022
Orphanet Journal of Rare Diseases
Iranian Journal of Otorhinolaryngology, 2007
The Comparative study of two treatment protocols in short course control of symptoms of allergic ... more The Comparative study of two treatment protocols in short course control of symptoms of allergic rhinitis patients
Orphanet Journal of Rare Diseases
Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 ge... more Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6. Methods An extensive review of the patients’ data was carried out. Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS) was used for evaluating the severity and progression of INAD patients. Whole-exome sequencing was used to determine the disease's underlying etiology followed by co-segregation analysis using Sanger sequencing. In silico prediction analysis based on the ACMG recommendation was used to assess the pathogenicity of genetic variants. We aimed to survey a genotype-genotype correlation in PLA2G6 considering all reported disease-causing variants in addition...
European Journal of Neurology
Journal of Neuromuscular Diseases
Background: Insufficient amounts of survival motor neuron protein is leading to one of the most d... more Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family histor...
caspian journal of internal medicine, 2022
Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multior... more Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multiorgan dysfunction. There is insufficient data about kidney involvement in children. So, this study was done on children with COVID-19 to evaluate nephrological involvement. Methods: All children with confirmed or suspected COVID-19 who were admitted in Children Hospital .were enrolled. They were admitted in hospital from March 2020 to July 2020. Serum Blood Urea Nitrogen (BUN), creatinine, sodium, potassium, calcium and urinalysis were evaluated. Also, glomerular filtration rate (GFR) was calculated by Schertz's formula. All patients were evaluated by chest x-ray and/or computerized tomography scanning (CTS). The data were analyzed by SPSS software and P value less than 0.05 was determined as significant. Results: Forty-seven children with confirmed or suspected COVID-19 were enrolled to this study. At admission, 23.4% and 27.7% of children with COVID-19 had abnormal increase in serum BUN and creatinine, respectively. Also 78.8% and 25.5% of children had GFR less than 90 and 60 ml/min /1.732, respectively. Additionally, 13/47 (27.7%) of children had abnormal urine analysis (microscopic hematuria and/or proteinuria). There wasn’t a significant relationship between pulmonary lesions and abnormal reduction of GFR (P<0/05). Conclusion: In the study, the risk of AKI (acute kidney injury) and decrease of GFR and also abnormal urinalysis is high in children with COVID-19. So, more attention for detection of kidney involvement is necessary and more conservative management for prevention of AKI and decrease of GFR are recommended.
Clinical Case Reports
Ataxia in children is a common clinical sign of various disorders, consisting of discoordination ... more Ataxia in children is a common clinical sign of various disorders, consisting of discoordination of movement with an absence of muscle control during voluntary activity. Ataxia is generally caused by a disorder in the function of the complex circuitry connecting the basal ganglia, cerebellum, and cerebral cortex, and this is known as "cerebellar ataxia." A wide variety of disorders can lead to acquired and inherited ataxia. Prompt identification of etiologies in progressive ataxic disorders is important because corrective treatments may halt the degenerative process and preserve cerebellar functioning. 1 Some causes of ataxia in children and adolescents that are treatable
Current Research in Medical Sciences, May 10, 2021
Introduction The COVID-19 can cause a broad spectrum of neurologic and systemic manifestations. C... more Introduction The COVID-19 can cause a broad spectrum of neurologic and systemic manifestations. Case reports on the neurological manifestation of COVID-19 are increasing in the pediatric population. Case report In this study, a child suspected to Guillain-Barre Syndrome (GBS) associated with SARS-CoV-19 was reported. This case was a 31-month-old boy presented with transient dysautonomia, progressive symmetric muscle weakness in lower limbs, areflexia with a mild increase in the protein level of cerebro-spinal fluid and no significant evidence of inflammation. The results of an early electromyography-nerve conduction velocities were within normal limit at the fourth day. All radiological and laboratory findings were normal by considering possible causes. Intravenous immunoglobulin was administered, and clinical improvement was remarkable during treatment. Conclusion This case report represented an Iranian child with clinically diagnosed GBS, possibly triggered by SARS-CoV-2. It is recommended to consider COVID-19 in children with the neurological presentation in the current outbreak.
Journal of Molecular Neuroscience, 2022
This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystr... more This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian patients, who are clinically suspected. Whole-exome sequencing was utilized to detect disease-causing variants in 40 MLPA-negative DMD patients. Disease-causing variants were detected in the DMD gene in 36/40 of the patients (90%), and 4/40 of them (10%) remained undiagnosed. WES analysis revealed that nonsense variant was the most common type in our study (23/36 of the cases). Besides, 12/36 of the cases had frameshift variant, and one of the patients had a likely pathogenic splice variant in the DMD gene. Carrier testing revealed that 21/40 of the mothers had the identified variant. Therefore, most variants were inherited (58.3%), while 19/40 were de novo (41. 7%). The present study has demonstrated the importance of performing WES to detect disease-causing point mutations in MLPA-negative DMD patients and to identify carrier females. Due to regulatory challenges, the clinical development of therapeutic approaches is time-consuming and may not be available to all patients shortly. Therefore, it appears that the techniques used to accurately detect disease-causing variants in carrier mothers are a more efficient solution to prevent the increased prevalence of DMD.
Background: Acute Flaccid Paralysis(AFP) is a clinical syndrome characterized by acute progressiv... more Background: Acute Flaccid Paralysis(AFP) is a clinical syndrome characterized by acute progressive weakness in limbs and respiratory and swallowing muscles. Etiologies of AFP mostly include infections in anterior horn cells of the spinal cord, Guillain-Barre syndrome(GBS), transverse myelitis, viral myositis, myasthenia gravis and botulism. An accurate and early diagnosis of AFP is crucial. The aims of this study were to determine the main etiologies and characteristics of AFP in children and also design a diagnostic approach for AFP based on a hospital-based registry system.Method: This retrospective, cross-sectional study is a five-years survey, from 2011 to 2016 in Children’s Medical Center as the main children referral hospital in Iran. Totally 118 patients who had met AFP ICD-10- CM and inclusion criteria were included. All clinical and Paracinical data were collected based on a prepared questionnaire for the study.Result: The mean age of the patients was 6.09 ± 3.60 years old....
International Journal of Pediatrics, 2020
Background: COVID-19 can make various symptoms in children. The aim of the study was evaluation o... more Background: COVID-19 can make various symptoms in children. The aim of the study was evaluation of multiorgan presentation of children with COVID-19 infection in Amirkola Children’s Hospital in Babol. Materials and Methods: This study was conducted by retrospective and data extract from medical records. All children with suspected COVID-19 infection who were referred to Amirkola Children’s Hospital in Babol (north of Iran) from March 4, 2020 to May 30, 2020 were enrolled. Clinical features of the respiratory and digestive system and Multisystem Inflammatory Syndrome in Children (MIS-c) were assessed. In all children WBC, RBC, Hb, MCV, Lymphocyte, CRP, ESR, ALT, AST, PT, PTT and platelets were also evaluated. Data analysis was conducted with SPSS software. P<0.05 was considered as significant level. Results: Totally 37 children were recruited to the study. Most common clinical symptoms in children were fever (86.5%), weakness (75.7%) anorexia (73%) abdominal pain (48.6.9%), diarr...
BMC Pediatrics
Objectives This study aimed to analyze the health-related quality of life (HRQoL) of patients wit... more Objectives This study aimed to analyze the health-related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA) based on the type of SMA, demographic and clinical features and compare HRQoL of these patients with a matched healthy control group. Methods This was a case–control study of Patients with SMA in Iran. Sixty-six patients with SMA type II and III aged 8–18 years and also 264 healthy age, sex, and socio-economic matched individuals were enrolled. To assess the quality of life, we used the Persian version of the KIDSCREEN-27. Results The health-related quality of life between children with type II and type III SMA was not significant in all 5 subscales. However, HRQoL in healthy children was significantly higher than in SMA children in all 5 subscales. Conclusion The quality of life in children with SMA was lower than the healthy control group in all subscales, and physical well-being and psychosocial aspects are the main domains of life impaired by SMA dise...
Journal of Clinical Laboratory Analysis
BackgroundNARS2 encodes mitochondrial Asparaginyl‐tRNA Synthetase 2, which catalyzes the aminoacy... more BackgroundNARS2 encodes mitochondrial Asparaginyl‐tRNA Synthetase 2, which catalyzes the aminoacylation of tRNA‐Asn in the mitochondria. To date, 24 variants have been reported in NARS2 gene in 35 patients. The phenotypic variability of NARS2‐associated disorder is broad, ranging from neurodevelopmental disorders to hearing loss. In this study, we report some novel imaging findings in an Iranian patient suffering from epileptic encephalopathy, caused by a previously reported variant, c.500A > G; p.(His167Arg), in NARS2.MethodsThe spectrum of clinical manifestations of two Iranian patients was investigated and genetic analysis was performed by Whole‐exome sequencing (WES). Additionally, we also reviewed the literature and summarized the phenotypes of previously reported patients with variants in the NARS2 gene.ResultsHere, we present the phenotypic and genetic features of 2 unrelated Iranian infants presented with neurodevelopmental delay, seizures, hearing impairment, feeding pro...
Molecular Syndromology
Introduction: TPP1 variants have been identified as a causative agent of neuronal ceroid lipofusc... more Introduction: TPP1 variants have been identified as a causative agent of neuronal ceroid lipofuscinosis 2 disease, that ataxia is one of its clinical features. Therefore, here, molecular study of TPP1 variants is presented in an Iranian cohort and a novel pathogenic variant is described. Methods: This investigation was conducted as a cross-sectional study in a tertiary referral hospital, Children’s Medical Center, Pediatrics Center of Excellence. Clinical presentations and pedigrees were documented. Patients with cerebellar ataxia were enrolled in this study. Next-generation sequencing was applied to confirm the diagnosis. Segregation and bioinformatics analyses were also done for the variants using Sanger sequencing. Results: Forty-five patients were included in our study. The mean age of onset was 104 (+55.60) months (minimum = 31 months, maximum = 216 months). The majority of cases (73.3%) were born to consanguineous parents and only 1 patient (2.2%) had an affected sibling. Of t...
DOAJ (DOAJ: Directory of Open Access Journals), Mar 1, 2022
Orphanet Journal of Rare Diseases
Iranian Journal of Otorhinolaryngology, 2007
The Comparative study of two treatment protocols in short course control of symptoms of allergic ... more The Comparative study of two treatment protocols in short course control of symptoms of allergic rhinitis patients
Orphanet Journal of Rare Diseases
Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 ge... more Background Phospholipase-associated neurodegeneration (PLAN) caused by mutations in the PLA2G6 gene is a rare neurodegenerative disorder that presents with four sub-groups. Infantile neuroaxonal dystrophy (INAD) and PLA2G6-related dystonia-parkinsonism are the main two subtypes. In this cohort, we reviewed clinical, imaging, and genetic features of 25 adult and pediatric patients harboring variants in the PLA2G6. Methods An extensive review of the patients’ data was carried out. Infantile Neuroaxonal Dystrophy Rating Scale (INAD-RS) was used for evaluating the severity and progression of INAD patients. Whole-exome sequencing was used to determine the disease's underlying etiology followed by co-segregation analysis using Sanger sequencing. In silico prediction analysis based on the ACMG recommendation was used to assess the pathogenicity of genetic variants. We aimed to survey a genotype-genotype correlation in PLA2G6 considering all reported disease-causing variants in addition...
European Journal of Neurology
Journal of Neuromuscular Diseases
Background: Insufficient amounts of survival motor neuron protein is leading to one of the most d... more Background: Insufficient amounts of survival motor neuron protein is leading to one of the most disabling neuromuscular diseases, spinal muscular atrophy (SMA). Before the current study, the detailed characteristics of Iranian patients with SMA had not been determined. Objective: To describe the key demographic, clinical, and genetic characteristics of patients with SMA registered in the Iranian Registry of SMA (IRSMA). Methods: IRSMA has been established since 2018, and the demographic, clinical, and genetic characteristics of patients with SMA were recorded according to the methods of treat neuromuscular disease (TREAT-NMD) project. Results: By October 1, 2022, 781 patients with 5q SMA were registered. Of them, 164 patients died, the majority of them had SMA type 1 and died during the first 20 months of life. The median survival of patients with type 1 SMA was 23 months. The consanguinity rate in 617 alive patients was 52.4%, while merely 24.8% of them had a positive family histor...
caspian journal of internal medicine, 2022
Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multior... more Background: The New coronavirus (SARS COV-2) can cause acute respiratory disease and also multiorgan dysfunction. There is insufficient data about kidney involvement in children. So, this study was done on children with COVID-19 to evaluate nephrological involvement. Methods: All children with confirmed or suspected COVID-19 who were admitted in Children Hospital .were enrolled. They were admitted in hospital from March 2020 to July 2020. Serum Blood Urea Nitrogen (BUN), creatinine, sodium, potassium, calcium and urinalysis were evaluated. Also, glomerular filtration rate (GFR) was calculated by Schertz's formula. All patients were evaluated by chest x-ray and/or computerized tomography scanning (CTS). The data were analyzed by SPSS software and P value less than 0.05 was determined as significant. Results: Forty-seven children with confirmed or suspected COVID-19 were enrolled to this study. At admission, 23.4% and 27.7% of children with COVID-19 had abnormal increase in serum BUN and creatinine, respectively. Also 78.8% and 25.5% of children had GFR less than 90 and 60 ml/min /1.732, respectively. Additionally, 13/47 (27.7%) of children had abnormal urine analysis (microscopic hematuria and/or proteinuria). There wasn’t a significant relationship between pulmonary lesions and abnormal reduction of GFR (P<0/05). Conclusion: In the study, the risk of AKI (acute kidney injury) and decrease of GFR and also abnormal urinalysis is high in children with COVID-19. So, more attention for detection of kidney involvement is necessary and more conservative management for prevention of AKI and decrease of GFR are recommended.
Clinical Case Reports
Ataxia in children is a common clinical sign of various disorders, consisting of discoordination ... more Ataxia in children is a common clinical sign of various disorders, consisting of discoordination of movement with an absence of muscle control during voluntary activity. Ataxia is generally caused by a disorder in the function of the complex circuitry connecting the basal ganglia, cerebellum, and cerebral cortex, and this is known as "cerebellar ataxia." A wide variety of disorders can lead to acquired and inherited ataxia. Prompt identification of etiologies in progressive ataxic disorders is important because corrective treatments may halt the degenerative process and preserve cerebellar functioning. 1 Some causes of ataxia in children and adolescents that are treatable
Current Research in Medical Sciences, May 10, 2021
Introduction The COVID-19 can cause a broad spectrum of neurologic and systemic manifestations. C... more Introduction The COVID-19 can cause a broad spectrum of neurologic and systemic manifestations. Case reports on the neurological manifestation of COVID-19 are increasing in the pediatric population. Case report In this study, a child suspected to Guillain-Barre Syndrome (GBS) associated with SARS-CoV-19 was reported. This case was a 31-month-old boy presented with transient dysautonomia, progressive symmetric muscle weakness in lower limbs, areflexia with a mild increase in the protein level of cerebro-spinal fluid and no significant evidence of inflammation. The results of an early electromyography-nerve conduction velocities were within normal limit at the fourth day. All radiological and laboratory findings were normal by considering possible causes. Intravenous immunoglobulin was administered, and clinical improvement was remarkable during treatment. Conclusion This case report represented an Iranian child with clinically diagnosed GBS, possibly triggered by SARS-CoV-2. It is recommended to consider COVID-19 in children with the neurological presentation in the current outbreak.
Journal of Molecular Neuroscience, 2022
This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystr... more This manuscript aimed to determine the underlying point mutations causing Duchenne muscular dystrophy (DMD) in a heterogeneous group of Iranian patients, who are clinically suspected. Whole-exome sequencing was utilized to detect disease-causing variants in 40 MLPA-negative DMD patients. Disease-causing variants were detected in the DMD gene in 36/40 of the patients (90%), and 4/40 of them (10%) remained undiagnosed. WES analysis revealed that nonsense variant was the most common type in our study (23/36 of the cases). Besides, 12/36 of the cases had frameshift variant, and one of the patients had a likely pathogenic splice variant in the DMD gene. Carrier testing revealed that 21/40 of the mothers had the identified variant. Therefore, most variants were inherited (58.3%), while 19/40 were de novo (41. 7%). The present study has demonstrated the importance of performing WES to detect disease-causing point mutations in MLPA-negative DMD patients and to identify carrier females. Due to regulatory challenges, the clinical development of therapeutic approaches is time-consuming and may not be available to all patients shortly. Therefore, it appears that the techniques used to accurately detect disease-causing variants in carrier mothers are a more efficient solution to prevent the increased prevalence of DMD.
Background: Acute Flaccid Paralysis(AFP) is a clinical syndrome characterized by acute progressiv... more Background: Acute Flaccid Paralysis(AFP) is a clinical syndrome characterized by acute progressive weakness in limbs and respiratory and swallowing muscles. Etiologies of AFP mostly include infections in anterior horn cells of the spinal cord, Guillain-Barre syndrome(GBS), transverse myelitis, viral myositis, myasthenia gravis and botulism. An accurate and early diagnosis of AFP is crucial. The aims of this study were to determine the main etiologies and characteristics of AFP in children and also design a diagnostic approach for AFP based on a hospital-based registry system.Method: This retrospective, cross-sectional study is a five-years survey, from 2011 to 2016 in Children’s Medical Center as the main children referral hospital in Iran. Totally 118 patients who had met AFP ICD-10- CM and inclusion criteria were included. All clinical and Paracinical data were collected based on a prepared questionnaire for the study.Result: The mean age of the patients was 6.09 ± 3.60 years old....
International Journal of Pediatrics, 2020
Background: COVID-19 can make various symptoms in children. The aim of the study was evaluation o... more Background: COVID-19 can make various symptoms in children. The aim of the study was evaluation of multiorgan presentation of children with COVID-19 infection in Amirkola Children’s Hospital in Babol. Materials and Methods: This study was conducted by retrospective and data extract from medical records. All children with suspected COVID-19 infection who were referred to Amirkola Children’s Hospital in Babol (north of Iran) from March 4, 2020 to May 30, 2020 were enrolled. Clinical features of the respiratory and digestive system and Multisystem Inflammatory Syndrome in Children (MIS-c) were assessed. In all children WBC, RBC, Hb, MCV, Lymphocyte, CRP, ESR, ALT, AST, PT, PTT and platelets were also evaluated. Data analysis was conducted with SPSS software. P<0.05 was considered as significant level. Results: Totally 37 children were recruited to the study. Most common clinical symptoms in children were fever (86.5%), weakness (75.7%) anorexia (73%) abdominal pain (48.6.9%), diarr...
BMC Pediatrics
Objectives This study aimed to analyze the health-related quality of life (HRQoL) of patients wit... more Objectives This study aimed to analyze the health-related quality of life (HRQoL) of patients with spinal muscular atrophy (SMA) based on the type of SMA, demographic and clinical features and compare HRQoL of these patients with a matched healthy control group. Methods This was a case–control study of Patients with SMA in Iran. Sixty-six patients with SMA type II and III aged 8–18 years and also 264 healthy age, sex, and socio-economic matched individuals were enrolled. To assess the quality of life, we used the Persian version of the KIDSCREEN-27. Results The health-related quality of life between children with type II and type III SMA was not significant in all 5 subscales. However, HRQoL in healthy children was significantly higher than in SMA children in all 5 subscales. Conclusion The quality of life in children with SMA was lower than the healthy control group in all subscales, and physical well-being and psychosocial aspects are the main domains of life impaired by SMA dise...