keyword
https://read.qxmd.com/read/38570878/the-genetic-basis-of-early-onset-hereditary-ataxia-in-iran-results-of-a-national-registry-of-a-heterogeneous-population
#1
JOURNAL ARTICLE
Nejat Mahdieh, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli, Sareh Hosseinpour, Maryam Rasulinejad, Ali Zare Dehnavi, Masoud Ghahvechi Akbari, Reza Shervin Badv, Elahe Vafaei, Ali Mohebbi, Pouria Mohammadi, Seyyed Mohammad Mahdi Hosseiny, Reza Azizimalamiri, Ali Nikkhah, Elham Pourbakhtyaran, Mohammad Rohani, Narges Khanbanha, Sedigheh Nikbakht, Mojtaba Movahedinia, Parviz Karimi, Homa Ghabeli, Seyed Ahmad Hosseini, Fatemeh Sadat Rashidi, Masoud Garshasbi, Morteza Rezvani Kashani, Noor M Ghiasvand, Stephan Zuchner, Matthis Synofzik, Mahmoud Reza Ashrafi
BACKGROUND: To investigate the genetics of early-onset progressive cerebellar ataxia in Iran, we conducted a study at the Children's Medical Center (CMC), the primary referral center for pediatric disorders in the country, over a three-year period from 2019 to 2022. In this report, we provide the initial findings from the national registry. METHODS: We selected all early-onset patients with an autosomal recessive mode of inheritance to assess their phenotype, paraclinical tests, and genotypes...
April 3, 2024: Human Genomics
https://read.qxmd.com/read/38452848/effects-of-different-cryopreservation-parameters-on-the-differences-between-trypan-blue-and-fluorescent-syto-13-gelred-assays
#2
JOURNAL ARTICLE
Elham Ashrafi, Dominic Sauvageau, JanetA W Elliott
Post-thaw cell viability assessment is very important in cryopreservation because it is the main assessment method used to optimize the cryopreservation protocols for each cell type; hence, having standardized accurate, quick, and reliable assays for post-thaw cell viability measurements is of utmost importance. The trypan blue exclusion assay and nucleic-acid-binding fluorescence-based assays are two different methods for cell viability assessment. Both assays identify cells with damaged membranes by whether they let a compound enter the cell...
March 5, 2024: Cryobiology
https://read.qxmd.com/read/38446773/systematic-cryopreservation-study-of-cardiac-myoblasts-in-suspension
#3
JOURNAL ARTICLE
Elham Ashrafi, Milica Radisic, Janet A W Elliott
H9c2 myoblasts are a cell line derived from embryonic rat heart tissue and demonstrate the ability to differentiate to cardiac myotubes upon reduction of the serum concentration (from 10% to 1%) and addition of all-trans retinoic acid in the growth medium. H9c2 cells are increasingly being used as an easy-to-culture proxy for some functions of cardiomyocytes. The cryobiology of cardiac cells including H9c2 myoblasts has not been studied as extensively as that of some cell types. Consequently, it is important to characterize the cryobiological response and systematically develop well-optimized cryopreservation protocols for H9c2 cells to have optimal and consistent viability and functionality after thaw for high quality studies with this cell type...
2024: PloS One
https://read.qxmd.com/read/38374194/clinical-application-of-next-generation-sequencing-for-mendelian-disease-diagnosis-in-the-iranian-population
#4
JOURNAL ARTICLE
Ayda Abolhassani, Zohreh Fattahi, Maryam Beheshtian, Mahsa Fadaee, Raheleh Vazehan, Fatemeh Ahangari, Shima Dehdahsi, Mehrshid Faraji Zonooz, Elham Parsimehr, Zahra Kalhor, Fatemeh Peymani, Maryam Mozaffarpour Nouri, Mojgan Babanejad, Khadijeh Noudehi, Fatemeh Fatehi, Shima Zamanian Najafabadi, Fariba Afroozan, Hilda Yazdan, Bita Bozorgmehr, Azita Azarkeivan, Shokouh Sadat Mahdavi, Pooneh Nikuei, Farzad Fatehi, Payman Jamali, Mahmoud Reza Ashrafi, Parvaneh Karimzadeh, Haleh Habibi, Kimia Kahrizi, Shahriar Nafissi, Ariana Kariminejad, Hossein Najmabadi
Next-generation sequencing (NGS) has been proven to be one of the most powerful diagnostic tools for rare Mendelian disorders. Several studies on the clinical application of NGS in unselected cohorts of Middle Eastern patients have reported a high diagnostic yield of up to 48%, correlated with a high level of consanguinity in these populations. We evaluated the diagnostic utility of NGS-based testing across different clinical indications in 1436 patients from Iran, representing the first study of its kind in this highly consanguineous population...
February 19, 2024: NPJ Genomic Medicine
https://read.qxmd.com/read/38308583/contribution-of-genetic-variants-in-the-development-of-familial-premature-coronary-artery-disease-in-a-cohort-of-cardiac-patients
#5
JOURNAL ARTICLE
Sepideh Mehvari, Nahid Karimian Fathi, Sara Saki, Maryam Asadnezhad, Sanaz Arzhangi, Fatemeh Ghodratpour, Marzieh Mohseni, Farzane Zare Ashrafi, Saeed Sadeghian, Mohammadali Boroumand, Fatemeh Shokohizadeh, Elham Rostami, Rahnama Boroumand, Reza Najafipour, Reza Malekzadeh, Yasser Riazalhosseini, Mohammadreza Akbari, Mark Lathrop, Hossein Najmabadi, Kaveh Hosseini, Kimia Kahrizi
Coronary artery disease (CAD), the most prevalent cardiovascular disease, is the leading cause of death worldwide. Heritable factors play a significant role in the pathogenesis of CAD. It has been proposed that approximately one-third of patients with CAD have a positive family history, and individuals with such history are at ~1.5-fold increased risk of CAD in their lifespans. Accordingly, the long-recognized familial clustering of CAD is a strong risk factor for this disease. Our study aimed to identify candidate genetic variants contributing to CAD by studying a cohort of 60 large Iranian families with at least two members in different generations afflicted with premature CAD (PCAD), defined as established disease at ≤45 years in men and ≤55 years in women...
February 3, 2024: Clinical Genetics
https://read.qxmd.com/read/38269200/gene-networks-analysis-of-salmonella-typhimurium-reveals-new-insights-on-key-genes-involved-in-response-to-low-water-activity
#6
JOURNAL ARTICLE
Nafiseh Davati, Abozar Ghorbani, Elham Ashrafi-Dehkordi, Thomas P Karbanowicz
BACKGROUND: When Salmonella enterica serovar Typhimurium , a foodborne bacterium, is exposed to osmotic stress, cellular adaptations increase virulence severity and cellular survival. OBJECTIVES: The aim of the gene network analysis of S. Typhimurium was to provide insights into the various interactions between the genes involved in cellular survival under low water activity (aw ). MATERIALS AND METHODS: We performed a gene network analysis to identify the gene clusters and hub genes of S...
October 2023: Iranian Journal of Biotechnology
https://read.qxmd.com/read/38186840/analysis-of-semen-parameters-and-hormonal-changes-of-fsh-lh-testosterone-and-libido-following-bariatric-surgery
#7
JOURNAL ARTICLE
Siroos Javani, Esmaeil Mosapour, Seyedmokhtar Hoseine, Amir Ashrafi, Elham Farhadi
INTRODUCTION: Although studies have shown that bariatric surgery can have a positive effect on the patient's sexual function, there are still disagreements and contradictions in this regard. The present study is aimed to evaluate semen parameters, hormonal changes of FSH, LH, testosterone, and libido following bariatric surgery. METHODS: The present research as a prospective study was performed on 20 male candidates for bariatric surgery referred to Golestan and Aria hospitals in Ahvaz in 2021...
November 2023: Journal of Family Medicine and Primary Care
https://read.qxmd.com/read/37752557/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
#8
JOURNAL ARTICLE
Elham Salehi Siavashani, Mahmoud Reza Ashrafi, Homa Ghabeli, Morteza Heidari, Masoud Garshasbi
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...
September 26, 2023: BMC Medical Genomics
https://read.qxmd.com/read/37543939/neurologic-manifestations-of-coronavirus-disease-2019-in-children-an-iranian-hospital-based-study
#9
JOURNAL ARTICLE
Elmira Haji Esmaeil Memar, Morteza Heidari, Homa Ghabeli, Elham Pourbakhtyaran, Roya Haghighi, Seyyed Mohammad Mahdi Hosseiny, Setareh Mamishi, Shima Mahmoudi, Hamid Eshaghi, Ali Reza Tavasoli, Mahmoud Mohammadi, Reza Shervin Badv, Gholamreza Zamani, Masood Ghahvehchi Akbari, Bahram Yarali, Rohola Shirzadi, Masoud Mohammadpour, Bahareh Yaghmaei, Meisam Sharifzadeh Ekbatani, Zeynab Najafi, Mahmoud Reza Ashrafi
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...
March 1, 2023: Archives of Iranian Medicine
https://read.qxmd.com/read/37229955/regional-disparities-in-cancer-survival-in-iran-insight-from-a-national-surveillance-of-cancer-survival-in-iran-irancansurv
#10
JOURNAL ARTICLE
Saeed Nemati, Elnaz Saeedi, Fereshte Lotfi, Azin Nahvijou, Habbiballah Pirnejad, Maria Cheraghi, Abbas Rezaeianzadeh, Roya Dolatkhah, Azam Bazarafshan, Arash Golpazir, Majid Yaghoobi-Ashrafi, Sepideh Abdi, Saba Alvand, Zahra Ravankhah, Elham Mohebbi, Ardeshir Khosravi, Arash Etemadi, Mahdi Sheikh, Gholamreza Roshandel, Ali Ghanbari-Motlagh, Elham Partovipour, Farid Najafi, Reza Malekzadeh, Mohammad Ali Mohagheghi, Kazem Zendehdel
BACKGROUND AND OBJECTIVES: We aimed to investigate geographical disparity in cancer survival in 9 provincial population-based cancer registries in Iran from 2015 to 2016. MATERIAL AND METHOD: In the current study, data from 90,862 adult patients (aged >15 years) diagnosed with cancer were retrieved from 9 population-based cancer registries across Iran. Five-year survival rates were estimated by applying relative survival approaches. We also applied the international cancer survival standard weights for age standardization...
May 23, 2023: Cancer Epidemiology
https://read.qxmd.com/read/36936611/bacterial-spectrum-and-antimicrobial-resistance-pattern-in-cancer-patients-with-febrile-neutropenia
#11
JOURNAL ARTICLE
Ali Darakhshandeh, Elham Fathi, Ali Haji Gholami, Farzaneh Ashrafi, Valiollah Mehrzad, Elahe Nasri
BACKGROUND: Bloodstream infections are serious complications in neutropenic cancer patients. There has been a universal pickup in multidrug resistant (MDR) strains. For individuals who are at high risk for infections caused by MDR bacteria, a novel de-escalation strategy has been developed. Determine the bacterial spectrum and antibiotic resistance pattern in febrile neutropenic cancer patients was the goal of this investigation. MATERIALS AND METHODS: From 2019 to 2020, 60 cancer patients with febrile neutropenia who were sent to Isfahan's Omid Hospital were included in this retrospective analysis...
2023: International Journal of Biochemistry and Molecular Biology
https://read.qxmd.com/read/36789037/the-effect-of-acorn-muffin-consumption-on-glycemic-indices-and-lipid-profile-in-type-2-diabetic-patients-a-randomized-double-blind-placebo-controlled-clinical-trial
#12
JOURNAL ARTICLE
Najmeh Sasani, Asma Kazemi, Siavash Babajafari, Ehsan Amiri-Ardekani, Mojtaba Rezaiyan, Reza Barati-Boldaji, Seyed Mohammad Mazloomi, Cain C T Clark, Elham Ashrafi-Dehkordi
Acorn is a nutritious fruit with the reported potential of ameliorating diseases, including diabetes. This research aimed to assess the effects of acorn muffin consumption on glycemic, lipid indices, and appetite in patients with type 2 diabetes. Sixty-six subjects were dichotomized to receive either one muffin containing 10 grams of acorn flour or a placebo muffin containing white wheat flour (no bran), per day, for 8 weeks. Acorn muffin consumption improved glycated hemoglobin ( p  = ...
February 2023: Food Science & Nutrition
https://read.qxmd.com/read/36776076/the-first-report-of-iranian-registry-of-patients-with-spinal-muscular-atrophy
#13
JOURNAL ARTICLE
Vahid Mansouri, Morteza Heidari, Maryam Bemanalizadeh, Reza Azizimalamiri, Shahriar Nafissi, Masood Ghahvechi Akbari, Mohammad Barzegar, Ali Reza Moayedi, Reza Shervin Badv, Mahmood Mohamadi, Ali Reza Tavasoli, Susan Amirsalari, Ali Khajeh, Soroor Inaloo, Farzad Fatehi, Sareh Hosseinpour, Meisam Babaei, Seyed Ahmad Hosseini, Seyyed Mohammad Mahdi Hosseiny, Afshin Fayyazi, Firoozeh Hosseini, Mehran Beiraghi Toosi, Nahid Khosroshahi, Homa Ghabeli, Habibeh Nejad Biglari, Simin Khayatzadeh Kakhki, Seyed Hossein Mirlohi, Elham Bidabadi, Bahram Mohammadi, Abdolmajid Omrani, Mostafa Sedighi, Mohammad Vafaee-Shahi, Maryam Rasulinezhad, Seyyed Mohamad Hoseini, Mojtaba Movahedinia, Zahra Rezaei, Parviz Karimi, Hossein Farshadmoghadam, Saeed Anvari, Omid Yaghini, Jafar Nasiri, Gholamreza Zamani, Mahmoud Reza Ashrafi
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...
February 6, 2023: Journal of Neuromuscular Diseases
https://read.qxmd.com/read/36633690/expanding-the-neuroimaging-findings-of-guanidinoacetate-methyltransferase-deficiency-in-an-iranian-girl-with-a-homozygous-frameshift-variant-in-the-gamt
#14
JOURNAL ARTICLE
Seyedeh Atiyeh Afjei, Mohammad Farid Mohammadi, Elham Pourbakhtyaran, Homa Ghabeli, Mahmoud Reza Ashrafi, Roya Haghighi, Maryam Rasulinezhad, Neda Pak, Ali Reza Tavasoli, Morteza Heidari
Guanidinoacetate methyltransferase deficiency (GAMTD) is a treatable neurodevelopmental disorder with normal or nonspecific imaging findings. Here, we reported a 14-month-old girl with GAMTD and novel findings on brain magnetic resonance imaging (MRI).A 14-‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍‍month-old female patient was referred to Myelin Disorders Clinic due to onset of seizures and developmental regression following routine vaccination at 4 months of age...
April 2023: Neurogenetics
https://read.qxmd.com/read/36545550/childhood-guillain-barre-syndrome-in-the-sars-cov-2-era-is-there-any-causative-relation
#15
Elham Pourbakhtyaran, Morteza Heidari, Masood Ghahvechi Akbari, Mahmoud Mohammadi, Reza Shervin Badv, Gholamreza Zamani, Ali Reza Tavasoli, Zahra Rezaei, Setareh Mamishi, Elmira Haji Esmaeil Memar, Seyyed Mohammad Mahdi Hosseiny, Homa Ghabeli, Roya Haghighi, Mahmoud Reza Ashrafi
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...
December 2022: Clinical Case Reports
https://read.qxmd.com/read/36503502/the-quality-of-life-in-children-with-spinal-muscular-atrophy-a-case-control-study
#16
JOURNAL ARTICLE
Gholamreza Zamani, Mahmoud Reza Ashrafi, Homa Ghabeli, Masood Ghahvechi Akbari, Mahmoud Mohammadi, Reza Shervin Badv, Sareh Hosseinpour, Roya Haghighi, Elham Pourbakhtyaran, Nahid Khosroshahi, Morteza Heidari
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...
December 12, 2022: BMC Pediatrics
https://read.qxmd.com/read/36466023/-hymenolepis-diminuta-infection-in-a-rural-child-from-north-of-iran
#17
Keyhan Ashrafi, Maryam Atri, Farshid Saadat, Elham Hajialilo, Behnaz Rahmati, Meysam Sharifdini
We report a case of Hymenolepis diminuta infection in a two years old boy living in Guilan Province, northern Iran diagnosed in 2019. The patient was complained of anorexia, weight loss, weakness and disturbed sleep. Stool examination revealed numerous eggs of H. diminuta. After treatment with a single dose of oral praziquantel, the patient recovered without evidence of the egg shedding in follow-up stool samples. Moreover, we performed detailed phylogenetic analysis of the H. diminuta comparing with other isolates deposited in GenBank database based on Cox1 gene ...
2022: Iranian Journal of Parasitology
https://read.qxmd.com/read/36319782/micrornas-expression-in-peripheral-blood-mononuclear-cells-of-patients-with-multiple-sclerosis-propose
#18
JOURNAL ARTICLE
Mahsa Abolghasemi, Sepide Ali Ashrafi, Milad Asadi, Dariush Shanehbandi, Saeed Sadigh Etehad, Elham Poursaei, Seyed Aria Nejadghaderi, Sheida Shaafi
BACKGROUND: MicroRNAs (miRs) are involved in the autoimmune and neurological diseases, including multiple sclerosis (MS), through modulating post-transcriptional gene regulation. Accumulating evidence indicates that miR-10, miR-24a, miR-124, and miR-21 play an imperative role in MS pathogenesis. Therefore, the current research aimed to analyze the expression of the selected miRNAs for MS in Iranian population. METHODS AND RESULTS: Blood sample of 75 relapsing-remitting MS (RRMS) patients and 75 healthy individuals suffering no neurodegenerative illness was collected...
November 1, 2022: Molecular Biology Reports
https://read.qxmd.com/read/36249111/molecular-characterization-of-animal-fasciola-spp-isolates-from-lorestan-province-western-iran
#19
JOURNAL ARTICLE
Peyman Heydarian, Vahid Jajarmi, Adel Spotin, Keyhan Ashrafi, Mehdi Mohebali, Mojgan Aryaeipour, Arezoo Bozorgomid, Elham Hajialilo, Mohammad Javad Abbaszadeh Afshar, Mandana Fadaei Tehrani, Mohammad Bagher Rokni
Background: We aimed to detect the genetic diversity of samples identified morphologically as Fasciola spp. from sheep, cattle and goat from Lorestan Province, western Iran using PCR-RFLP method. Besides, we evaluated the genetic diversity indices, sequencing and phylogenetic analysis using mitochondrial gene ( ND1 and CO1 ). Methods: PCR-RFLP analysis of ribosomal ITS1 fragment by RsaI restriction enzyme to investigate the genetic characteristics of Fasciola species obtained from different hosts (18 sheep, 21 cattle, and 17goats) was conducted...
August 2022: Iranian Journal of Public Health
https://read.qxmd.com/read/35869869/national-surveillance-of-cancer-survival-in-iran-irancansurv-analysis-of-data-of-15-cancer-sites-from-nine-population-based-cancer-registries
#20
JOURNAL ARTICLE
Saeed Nemati, Elnaz Saeedi, Fereshte Lotfi, Azin Nahvijou, Elham Mohebbi, Zahra Ravankhah, Abbas Rezaeianzadeh, Majid Yaghoobi-Ashrafi, Habbiballah Pirnejad, Arash Golpazir, Roya Dolatkhah, Saba Alvand, Seyed Vahid Ahmadi-Tabatabaei, Maria Cheraghi, Elisabete Weiderpass, Freddie Bray, Michel P Coleman, Arash Etemadi, Ardeshir Khosravi, Farid Najafi, Mohammad Ali Mohagheghi, Gholamreza Roshandel, Reza Malekzadeh, Kazem Zendehdel
Cancer survival is a key indicator for the national cancer control programs. However, survival data in the East Mediterranean region (EMR) are limited. We designed a national cancer survival study based on population-based cancer registries (PBCRs) from nine provinces in Iran. The current study reports 5-year net survival of 15 cancers in Iranian adults (15-99 years) during 2014 to 2015 in nine provinces of Iran. We used data linkages between the cancer registries and the causes of death registry and vital statistics and active follow-up approaches to ascertain the vital status of the patients...
July 23, 2022: International Journal of Cancer. Journal International du Cancer
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