24 results on '"Behnam Safarpour Lima"'
Search Results
2. Neurological Complications of COVID-19: A Rare Case of Bilateral Blindness
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Behnam Safarpour Lima, Yalda Nilipour, Fatemeh Omidi, Negar Mohammadi Khorasani, and Seyed Hossein Aghamiri
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Male ,Pediatrics ,medicine.medical_specialty ,Neurology ,Central nervous system ,Anosmia ,Infarction ,Blindness ,Article ,Olfactory nerve ,Biopsy ,medicine ,Humans ,medicine.diagnostic_test ,SARS-CoV-2 ,business.industry ,COVID-19 ,Middle Aged ,medicine.disease ,Magnetic Resonance Imaging ,medicine.anatomical_structure ,Emergency Medicine ,Encephalitis ,Nervous System Diseases ,medicine.symptom ,Complication ,business - Abstract
Background There are growing reports of the neurological involvement among patients with coronavirus disease 2019 (COVID-19). Headache, confusion, and anosmia after olfactory nerve disruption are the most prevalent presentation of the neurological involvement related to COVID-19. However, small numbers of the central nervous system involvement have been reported. Case Report A 49-year-old man was referred to our hospital with abrupt vision loss. Three weeks earlier he was admitted to the hospital based on his respiratory symptoms and was diagnosed with COVID-19 infection. Initial brain magnetic resonance imaging indicated diffuse restricted bilateral foci in both parietal and occipital lobes in favor of acute infarction. Diffuse weighted imaging demonstrated restricted bilateral hyperintense signals in parietal and occipital region. Occipital cortex biopsy showed brain tissue with focal infiltration of foamy macrophages mixed with reactive astrocytes and no plasma cell infiltration. Considering all of the evidence, post–COVID-19 encephalitis diagnosis was considered for the patient, and methyl prednisolone pulse therapy and intravenous immunoglobulin were initiated. Why Should an Emergency Physician Be Aware of This? Although there are growing reports of neurological involvement among patients, blindness is rarely observed as a complication of post–COVID-19 encephalitis. To our knowledge, this is the first case of post–COVID-19 encephalitis that presented with bilateral vision loss primarily. This case may raise physicians’ awareness of neurological complications of COVID-19.
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- 2021
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3. Gastrointestinal Bleeding Associated With Warfarin and Rivaroxaban Therapy in Atrial Fibrillation Cases with Concomitant Coagulopathy
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Meghdad Sedaghat, Behnam Safarpour Lima, Reihanesadat Bouzari, and Sarvenaz Shadlou
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medicine.medical_specialty ,Gastrointestinal bleeding ,Iran ,Rivaroxaban ,Melena ,Internal medicine ,Atrial Fibrillation ,Coagulopathy ,Humans ,Medicine ,Stroke ,Pharmacology ,business.industry ,Warfarin ,Anticoagulants ,Atrial fibrillation ,Hematology ,General Medicine ,medicine.disease ,Treatment Outcome ,Concomitant ,Molecular Medicine ,medicine.symptom ,Gastrointestinal Hemorrhage ,Cardiology and Cardiovascular Medicine ,business ,Factor Xa Inhibitors ,medicine.drug - Abstract
Background: There is inadequate information on the risk of gastrointestinal (GI) bleeding in patients who are under rivaroxaban and warfarin therapy in Iran. Determining the risk of GI bleeding in patients receiving these two drugs can help to select a more appropriate anti-coagulation prophylaxis in high-risk patients. Objective: The aim of this study was to compare the incidence of GI bleeding in patients with atrial fibrillation (AF) and concomitant bleeding risk factors receiving either warfarin or rivaroxaban. Methods: In this observational study, 200 patients with AF and bleeding risk factors who referred to Imam Hossein Hospital (Tehran, Iran) were included. The patients were under treatment with either warfarin or rivaroxaban. The incidence of GI bleeding was compared between the two groups monthly for one year. Results: GI bleedings were observed in 61% and 34% of patients treated with warfarin and rivaroxaban, respectively (P = 0.001).Melena was the most common type of GI bleeding in both groups. History of hypertension, history of stroke, consumption of anti-platelet drugs, NSAID consumption, and history of alcohol consumption were associated with more frequent GI bleeding only in warfarin group. Conclusion: The incidence of GI bleeding was lower in AF patients who received rivaroxaban compared to those treated with warfarin. Also, GI bleeding risk does not change according to the consumption of other anti-coagulant drugs and underlying history of hypertension or stroke in patients received rivaroxaban. Therefore, rivaroxaban is suggested as the choice of prophylaxisin patients with AF and concomitant coagulopathy.
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- 2021
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4. Ethical considerations in neurology during the COVID-19 pandemic
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Mohammadreza Tabary, Ruhollah Abolhasani, Farnaz Araghi, Armin Aryannejad, and Behnam Safarpour Lima
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medicine.medical_specialty ,2019-20 coronavirus outbreak ,Neurology ,Coronavirus disease 2019 (COVID-19) ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Dermatology ,03 medical and health sciences ,0302 clinical medicine ,Pandemic ,medicine ,Humans ,030212 general & internal medicine ,Intensive care medicine ,Ethics ,business.industry ,Endovascular Procedures ,Palliative Care ,Psychosocial Support Systems ,COVID-19 ,General Medicine ,Respiration, Artificial ,Psychiatry and Mental health ,Ethical consideration ,Neurology (clinical) ,Neurosurgery ,Nervous System Diseases ,Triage ,business ,Shut down ,030217 neurology & neurosurgery ,Healthcare system - Abstract
Coronavirus disease 2019 (COVID-19) pandemic has struck many countries and caused a great number of infected cases and death. Healthcare system across all countries is dealing with the increasing medical, social, and legal issues caused by the COVID-19 pandemic, and the standards of care are being altered. Admittedly, neurology units have been influenced greatly since the first days, as aggressive policies adopted by many hospitals caused eventual shut down of numerous neurologic wards. Considering these drastic alterations, traditional ethical principles have to be integrated with state-of-the-art ethical considerations. This review will consider different ethical aspects of care in neurologic patients during COVID-19 and how this challenging situation has affected standards of care in these patients.
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- 2021
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5. Efficacy of mechanical thrombectomy in stroke patients with large vessel involvement
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Seyed Hossein, Aghamiri, Behnam, Mansouri, Masoud, Mehrpour, Seyed Meghdad Hoseini, Karani, Mehran, Ghaffari, Behnam Safarpour, Lima, and Khalil, Komlakh
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Orthopedics and Sports Medicine ,Cell Biology ,Neurology (clinical) ,Molecular Biology - Abstract
Ischemic stroke is a common disease worldwide and leads to a significant rate of mortality and disability in patients every year, and imposes high costs on the health care system. The aim of this study was to evaluate the efficacy of the invasive method of mechanical thrombectomy for rapid intervention in ischemic stroke patients with large vessel involvement. Patients suspected of having a stroke, who were referred to Imam Hossein Hospital, were examined, and the diagnosis of stroke was confirmed. In the next stage, patients' MRS index was measured and the possibility of emergency thrombectomy was evaluated in patients. Patients who underwent thrombectomy were considered as the case group and the other patients were contemplated as the control group; then, the cases of the two groups were evaluated and compared. The mean age of patients was 66.63 ± 12.26 years. the use of emergency thrombectomy in the study group significantly reduced the MRS index of patients after 90 days (p
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- 2022
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6. RAR‐related orphan receptor A: One gene with multiple functions related to migraine
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Leila Solgi, Sahar Bayat, Shohreh Zare-Karizi, Atieh Abedin Do, Sedigheh Farahani, Behnam Safarpour Lima, and Reza Mirfakhraie
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Adult ,Male ,0301 basic medicine ,Migraine Disorders ,Iran ,Bioinformatics ,RORA ,03 medical and health sciences ,0302 clinical medicine ,Physiology (medical) ,Genotype ,medicine ,Humans ,Genetic Predisposition to Disease ,migraine ,Pharmacology (medical) ,Circadian rhythm ,rs4774388 ,RAR-related orphan receptor ,Allele ,rs11639084 ,Genotyping ,Pharmacology ,Orphan receptor ,business.industry ,Nuclear Receptor Subfamily 1, Group F, Member 1 ,Original Articles ,medicine.disease ,Pathophysiology ,Psychiatry and Mental health ,030104 developmental biology ,Migraine ,Case-Control Studies ,genetic association study ,Female ,Original Article ,business ,030217 neurology & neurosurgery - Abstract
Aims RAR‐related orphan receptor (RORA) involves in regulation of several biological processes including inflammation and circadian rhythm that probably are involved in migraine pathophysiology. In the current study, the association between RORA rs11639084 and rs4774388 variants and susceptibility to migraine were investigated in a sample of Iranian migraine patients for the first time. Methods In a case‐control study including 400 participants, 200 migraineurs and 200 healthy controls, genotyping of RORA rs4774388 and rs11639084 polymorphisms was performed using tetra‐primer amplification refractory mutation system–polymerase chain reaction (TP‐ARMS‐PCR). Results The distribution of rs4774388 C/T and T/T genotypes differed significantly between the studied groups. Moreover, an association was observed between rs4774388 and migraine under the recessive mode of inheritance (P = 0.002; OR = 1.89.; CI = 1.25‐2.87). The distribution of rs11639084 alleles and genotypes was not significantly different between migraineurs and healthy controls. Conclusion Current results suggest RORA, as a molecular link, may explain inflammation and circadian rhythm dysfunction in migraine. Further studies in different ethnicities are required to confirm the function of RORA in migraine development., This study, for the first time, confirmed the association between RORA and migraine.
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- 2020
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7. New Advances in Acute Ischemic Stroke Management: Review Article
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Hossein Aghamiri, Sepideh Paybast, Behnam Safarpour Lima, and Behnam Mansoori
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thrombolysis ,thrombectomy ,lcsh:R ,ischemic stroke ,lcsh:Medicine - Abstract
Cerebrovascular disease is the second cause of death and the sixth cause of morbidity worldwide, which will rise to fourth place by 2020. The treatment strategies for acute ischemic stroke (AIS) divided into two groups, including intravenous or intra-arterial thrombolysis and mechanical thrombectomy. Regarding growing development in the realm of diagnosis and treatment of stroke through state-of-the-art approaches, including emergent thrombectomy, there are new opportunities for investigation in this area. This is while a rough rate of 85% for strokes is occupied by, and the remained is hemorrhagic. Hence, the present study aimed to review recent advances in AIS with a focus on emergent thrombectomy. Here, we first provided the relevant history, and then the recent advances were discussed. The library data collection method was employed so that such databases as Web of Science, PubMed, and Science Direct used for data extraction. The evidence confirms the importance of emergent thrombectomy as all believe the famous statement "time is the brain." However, further investigations are required to find more strong evidence accordingly.
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- 2020
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8. Carotid intima-media and epicardial adipose tissue thickness in adult patients with epilepsy taking anti-seizure medication and its long-term significance
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Behnam Safarpour Lima, Mohsen Farazdaghi, Morvarid Dadras, Ali Mahdavi, Behnam Mansouri, and Alireza Mohamadzadeh
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Adult ,medicine.medical_specialty ,Adolescent ,Seizure medication ,Carotid Intima-Media Thickness ,Behavioral Neuroscience ,Epilepsy ,Risk Factors ,Internal medicine ,medicine ,Humans ,Accelerated atherosclerosis ,Adult patients ,medicine.diagnostic_test ,business.industry ,medicine.disease ,Carotid Arteries ,Neurology ,Intima-media thickness ,Adipose Tissue ,Epicardial adipose tissue ,Cardiology ,Neurology (clinical) ,Lipid profile ,business ,Pericardium ,Lipoprotein - Abstract
Objectives We investigated epicardial adipose tissue thickness (EATT), carotid intima-media thickness (CIMT), and lipid profile in adult patients with epilepsy (PWE) taking anti-seizure medication(s) (ASM) and compared with those of the healthy population. We also investigated whether duration of follow-up and number of ASM(s) (mono- vs. polytherapy) affect these risk factors. Methods Twenty PWE older than 18 years of age were recruited at the outpatient epilepsy clinic and compared to twenty controls. Patients who were 18 years old and younger, those with cardiovascular risk factors, and patients with follow-up duration less than 2 years were excluded from the study. Results Epicardial adipose tissue thickness and CIMT were thicker compared to controls. While patients’ low-density lipoprotein (LDL) levels were higher than controls, and high-density lipoprotein (HDL) levels were lower, the levels were in normal ranges. Those patients with duration of follow-up more than five years had thicker EATT. The 5-year LDL was in normal ranges while HDL was abnormally low. Number of ASM(s) was not associated with increased risks of atherosclerosis. Increased CIMT in patients taking ASM(s) was independent of their lipid profile. Conclusion Anti-seizure medications contribute to accelerated atherosclerosis in people with epilepsy. Chronic use of ASMs may increase this chance. It is appropriate to use ASM(s) with lower chances of atherosclerosis in people with epilepsy and encourage them to change their lifestyle in order to modify cardiovascular risk factors. Meantime, it is reasonable to assess the risk of atherosclerosis periodically in these patients by noninvasive methods including lipid profile, CIMT, and EATT.
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- 2021
9. Severe acute respiratory syndrome coronavirus 2 and seizure: An insight into the pathophysiologic mechanisms
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Shima Zareh-Shahamati, Mahyar Noorbakhsh, Hadi Digaleh, and Behnam Safarpour-Lima
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medicine.medical_specialty ,Neurology ,Coronavirus disease 2019 (COVID-19) ,SARS-CoV-2 ,business.industry ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,Central nervous system ,COVID-19 ,Meningoencephalitis ,Review Article ,Bioinformatics ,medicine.disease ,Pathophysiology ,Hypoxemia ,medicine.anatomical_structure ,Seizures ,medicine ,Neurology (clinical) ,medicine.symptom ,business ,Cytokine storm - Abstract
Based on previous studies, seizure has been reported to accompany coronavirus disease 2019 (COVID-19). Underlying mechanisms are those leading to the direct central nervous system (CNS) invasion through hematogenous spread or trans-synaptic retrograde invasion, causing meningoencephalitis. On the other hand, there are pathophysiologic mechanisms that seizure would be one of their early consequences, such as cytokine storm, hypoxemia, metabolic derangement, and structural brain lesions. Herein, we focused on available evidence to provide an insight into the pathophysiologic mechanisms that link seizure and severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection, as a better understanding of pathophysiology would lead to better diagnosis and treatment.
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- 2021
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10. Evaluation of neurosonology versus digital subtraction angiography in acute stroke patients
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Foroogh Mohammadi, Behnam Safarpour Lima, Navideh Sahebi Vaighan, Farhad Assarzadegan, Seyed Hossein Aghamiri, and Behnam Mansouri
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Male ,medicine.medical_specialty ,Ultrasonography, Doppler, Transcranial ,Posterior cerebral artery ,Sensitivity and Specificity ,Brain Ischemia ,Cerebral artery stenosis ,Physiology (medical) ,medicine.artery ,Basilar artery ,medicine ,Anterior cerebral artery ,Humans ,Carotid Stenosis ,Common carotid artery ,medicine.diagnostic_test ,business.industry ,Infant, Newborn ,Angiography, Digital Subtraction ,General Medicine ,Digital subtraction angiography ,Stroke ,Neurology ,Middle cerebral artery ,Surgery ,Female ,Neurology (clinical) ,Radiology ,Internal carotid artery ,business ,Carotid Artery, Internal - Abstract
Stroke is one of the most common neurological disorders with a high incidence in Middle-eastern regions. We aimed to assess the diagnostic accuracy of neurovascular ultrasound to detect of cerebral artery stenosis compared to digital subtraction angiography (DSA) as a gold standard method. Eighty patients presenting with symptoms of cerebral ischemia were enrolled in the study. They were examined by cervical color Doppler ultrasound and TCCS to determine stenosis of extracranial and intracranial arteries, respectively. DSA was performed 24–48 h after the initial examination. The sensitivity, specificity, negative predictive value, positive predictive value, and accuracy of neurovascular ultrasound in comparison to DSA were calculated. The agreement between the two methods was determined by kappa statistics. Eighty patients (60% male, 40% female) with a mean age of 61.32 ± 12.6 years were included. In 65% of patients, stenosis in carotid artery caused ischemic symptoms. We did not observe any stenosis in anterior cerebral artery, posterior cerebral artery and basilar artery in patients. The agreement between the neurovascular ultrasound and DSA in various arterial vessels was 0.9 for common carotid artery, 0.86 for internal carotid artery, 0.78 for middle cerebral artery, and 0.86 for vertebral artery. The sensitivity, specificity, positive predictive value, negative predictive value, accuracy, and kappa value of the neurovascular ultrasound for detecting stenosis regarding the arterial segments were 84.8%, 81%, 92.6%, 65.4%, 83.8, and 0.71, respectively. In conclusion, the neurovascular ultrasound is a valuable, non-invasive, and repeatable method to investigate cerebral artery stenosis with high diagnostic accuracy.
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- 2021
11. Transcranial Color-Coded Duplex Sonography and Digital Subtraction Angiography in Acute Stroke Patients
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Navideh Sahebi Vaighan, Behnam Mansouri, Foroogh Mohammadi, Behnam Safarpour Lima, Seyed Hossein Aghamiri, and Farhad Assarzadegan
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medicine.medical_specialty ,Text mining ,medicine.diagnostic_test ,business.industry ,medicine ,Duplex sonography ,Radiology ,Digital subtraction angiography ,business ,Acute stroke - Abstract
Background: Stroke is the most common neurological disorder with a high incidence in Middle-eastern regions. We aimed to assess the diagnostic accuracy of transcranial color-coded duplex sonography (TCCS) for detection of cerebral artery stenosis compared to digital subtraction angiography (DSA) as a gold standard method.Methods: Eighty patients presenting with symptoms of cerebral ischemia were enrolled in the study. They were examined by color-coded Doppler and TCCS to determine stenosis of extracranial and intracranial arteries, respectively. DSA was performed 24-48 hours after the initial examination. The sensitivity, specificity, negative predictive value (NPV), positive predictive value (PPV), and accuracy of TCCS in comparison to DSA was calculated. The agreement between the two methods was determined by kappa statistics. Results: Eighty patients (60% male, 40% female) with a mean age of 61.32±12.6 years were included. In 65% of cases, pathology in carotid artery was responsible for ischemia. We did not observe any abnormalities in the anterior cerebral artery (ACA), posterior cerebral artery (PCA) as well as basilar artery (BA). The agreement between TCCS and DSA in various arterial vessels were 0.9 for common carotid artery (CCA), 0.86 for internal carotid artery (ICA), 0.78 for middle cerebral artery (MCA), and 0.86 for vertebral artery (VA). The sensitivity, specificity, PPV, NPV, accuracy, and kappa value of TCCS for detection of stenosis regarding the arterial segments were 84.8%, 81%, 92.6%, 65.4%, 83.8, and 0.71, respectively. Conclusion: TCCS is a valuable, non-invasive, and repeatable method to investigate cerebral artery stenosis with high diagnostic accuracy.
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- 2021
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12. Prevalence of sleep disorders in patients with epilepsy: A questionnaire-based cross-sectional study
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Shima Zareh Shahamati, Omid Hesami, Farhad Assarzadegan, Behnam Safarpour Lima, and Ali Zokaei
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Adult ,Male ,Sleep Wake Disorders ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Cross-sectional study ,Excessive daytime sleepiness ,Iran ,03 medical and health sciences ,Behavioral Neuroscience ,Epilepsy ,Young Adult ,0302 clinical medicine ,Quality of life ,Surveys and Questionnaires ,medicine ,Insomnia ,Prevalence ,Humans ,In patient ,030212 general & internal medicine ,Aged ,Sleep disorder ,business.industry ,Middle Aged ,medicine.disease ,Sleep in non-human animals ,Cross-Sectional Studies ,Neurology ,Neurology (clinical) ,medicine.symptom ,business ,030217 neurology & neurosurgery - Abstract
Background Sleep disturbance is a frequent finding in patients with epilepsy. As evaluation of sleep disorders and quality of sleep in patients with epilepsy may provide better management of these patients, we aimed to assess the prevalence of common sleep disorders in patients with epilepsy. Methods Patients with epilepsy referred to an outpatient epilepsy clinic in Tehran during one year were included. Validated Persian questionnaires were used by an interviewer to assess Excessive daytime sleepiness (EDS), Restless leg syndrome (RLS), and insomnia. Also, patients’ demographic features and clinical seizure-related characteristics were recorded. Results Seventy patients (35 males) aged between 18 and 75 were enrolled. Among patients, 61.4, 35.7, and 28.6% suffered from insomnia, EDS, and RLS, respectively (mild to severe). When considering seizure characteristics, there was no significant correlation between either seizure frequency or its type and the prevalence of sleep disturbance (although sleep disturbance was more common among patients with higher seizure frequency and patients with generalized seizure). Interestingly, age had a positive correlation with EDS. Conclusion This study showed that sleep disturbance is a common finding in patients with epilepsy, which may become severe in some cases. Taking this into consideration, we suggest that routine evaluation of sleep disorders may help physicians to boost patients’ sleep quality.
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- 2020
13. Potentially inappropriate brain CT-scan requesting in the emergency department: A retrospective study in patients with neurologic complaints
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Hossein, Alimohammadi, Shima, Zareh Shahamati, Abdolazim, Karkhaneh Yousefi, and Behnam, Safarpour Lima
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Adult ,Aged, 80 and over ,Male ,Adolescent ,Brain ,Iran ,Middle Aged ,Young Adult ,Neurology ,Emergency ,Humans ,Brain CT-scan ,Female ,Original Article ,Emergency Service, Hospital ,Tomography, X-Ray Computed ,Aged ,Retrospective Studies - Abstract
Background: Potentially inappropriate brain CT scan requesting in the emergency department imposes extra charges to the healthcare system and patients. Besides, the unnecessary radiation exposure may cause irreparable damage to the patient. In this study we investigated the percentage of potentially inappropriately conducted brain CT scan for different chief complaints in non-traumatic patients presented to our emergency department. Material and methods: 160 patients aged over 18 years old with chief complaints other than trauma, referred to the emergency department of Imam Hossein Hospital (Tehran, Iran), were enrolled in this study. Data were collected from medical records; the inclusion criteria was patients older than 18 years with chief complaint other than trauma. Results: 160 people aged 18 to 100 years old enrolled in this study, 83 (51.87%) were male and 77 (48.13%) were female. There was no statistically significant difference in terms of potentially inappropriate brain CT between different age groups. Percentage of potentially inappropriate CT according to chief complaints were as follows: 4.8% for dysarthria, 0% for right and left hemiplegia, 9.1% for decreased level of consciousness, 30% for nausea and vomiting, 41.7% for generalized weaknesses, 0% for seizures, 55.6% for vertigo, 25% for headache, and 57.7% for other complaints. There was a statistically significant association between chief complaints and potentially inappropriate brain CT scan requests (p-value = 0.001). Conclusion: Considering the significant percentage of potentially inappropriate brain CT scan requests for non-traumatic patients in the setting of emergency department, it is critical for healthcare policymakers to propose practical guidelines and supervise their application. (www.actabiomedica.it)
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- 2020
14. The Effect of Intradermal Botulinum Toxin a injections on painful diabetic polyneuropathy
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Ali Solhpour, Meghdad Sedaghat, Behnam Safarpour Lima, Mehrdad Taheri, and Pooya Rostami
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Adult ,Male ,Injections, Intradermal ,Visual analogue scale ,Endocrinology, Diabetes and Metabolism ,medicine.medical_treatment ,Pain ,030209 endocrinology & metabolism ,Iran ,Placebo ,law.invention ,03 medical and health sciences ,Sharp Pain ,0302 clinical medicine ,Randomized controlled trial ,Diabetic Neuropathies ,Double-Blind Method ,law ,Diabetes mellitus ,Internal Medicine ,Medicine ,Humans ,Prospective Studies ,Botulinum Toxins, Type A ,Saline ,Aged ,business.industry ,General Medicine ,Pain scale ,Middle Aged ,medicine.disease ,Prognosis ,Anesthesia ,Female ,business ,Polyneuropathy ,030217 neurology & neurosurgery ,Follow-Up Studies - Abstract
Background and aims Botulinum toxin type A (BTX-A) have been recently administered to improve Diabetic neuropathies; however, the efficacy of this treatment for relieving pain in painful diabetic polyneuropathy (DPN) has not been studied yet. Herein, we investigated the efficacy of botulinum toxin A (BTX-A) on DPN. Methods This prospective, randomized, double-blind, controlled trial was performed in Imam Hossein Medical Center, pain clinic (Tehran, Iran). Diabetic patients (141 cases), between 40 and 70 years old with polyneuropathy in lower limbs were randomly assigned to one of these three groups: 1. Group D1 received 150 units of BTX-A in one foot and normal saline 0.9% in the other foot, 2. Group D2 received BTX-A 150 units in both feet, 3. Group N received normal saline 0.9% in both feet. All injections were performed intradermally using insulin syringes in 20 different points of foot. Visual analogue scale (VAS) and neuropathy pain scale (NPS) were used to compare the groups. Results The improvement of VAS, pain intensity, sharp and hot sensation, sensitive and unpleasant sensation, deep and surface sensation was significant when comparing BTX-A and placebo groups. However, dull and cold sensations improvement (p = 0.114, and p = 0.653; respectively) did not show a significant difference between BTX-A injection and placebo groups. Furthermore, the percentage of changes after treatment indicated that sharp pain was improved more than other complaints (80%, 81%, and 37% for D1, D2, and N groups; respectively). Conclusion Intradermal administration of BTX-A was effective in improving VAS and all of the items of NPS in patients with diabetic polyneuropathy, except for dull and cold sensation.
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- 2020
15. Coronavirus disease 2019 and stroke in Iran: a case series and effects on stroke admissions
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Ashfaq Shuaib, Z Fatehi, Hamid Reza Hatamabadi, Mehran Ghaffari, Masoud Mehrpour, Nahid Beladi Moghadam, M Farahani, Behnam Mansouri, Behnam Safarpour Lima, Farhad Assarzadegan, Seyed Hossein Aghamiri, and Omid Hesami
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medicine.medical_specialty ,2019-20 coronavirus outbreak ,Neurology ,Coronavirus disease 2019 (COVID-19) ,acute stroke ,Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) ,030204 cardiovascular system & hematology ,Iran ,03 medical and health sciences ,0302 clinical medicine ,Pandemic ,medicine ,Humans ,cardiovascular diseases ,Stroke ,Acute stroke ,Retrospective Studies ,Coronavirus disease 2019 ,business.industry ,SARS-CoV-2 ,Research ,pandemic ,neurology ,COVID-19 ,medicine.disease ,stroke ,cerebrovascular disease ,Hospitalization ,Emergency medicine ,business ,030217 neurology & neurosurgery ,Healthcare system - Abstract
Objective The coronavirus disease 2019 pandemic has affected healthcare systems around the globe and massively impacted patients with various non-infectious, life-threatening conditions. Stroke is a major neurological disease contributing to death and disability worldwide, and is still an ongoing issue during the pandemic. Here we investigate the impact of the coronavirus disease 2019 outbreak on stroke manifestations, treatment courses, the outcome of stroke patients, and the hospitalization rate in a referral center for stroke management in Tehran, Iran. Methods We extracted data regarding 31 stroke patients (10 patients with laboratory-confirmed coronavirus disease 2019) and compared the demographic and pathological characteristics of the patients with or without coronavirus disease 2019 infection. The association of demographic/pathological characteristics of stroke patients during the coronavirus disease 2019 pandemic and a corresponding period during the previous year (49 patients) and an earlier period during the same year as the pandemic (50 patients) was also evaluated. Results The absolute number of admissions decreased about 40% during the coronavirus disease 2019 pandemic. Except for the stroke severity (P = 0.002), there were no significant changes in the demographic and pathological characteristics of the stroke patients during the three studied periods. A significantly higher mean of age (75.60 ± 9.54 versus 60.86 ± 18.45; P = 0.007), a significant difference in the type of stroke (P = 0.046), and significantly higher stroke severity (P = 0.024) were observed in stroke patients with coronavirus disease 2019 compared with those of stroke patients without coronavirus disease 2019. Treatment approaches, duration of hospitalization, and mortality rates did not differ significantly. Conclusions This report shows that the pandemic caused the number of acute stroke admissions to plummet compared to other periods. Although the pandemic did not affect the treatment plans and care of the patients, stroke cases with coronavirus disease 2019 had higher age, more large vessel ischemic stroke, and more severe stroke. Further studies are urgently needed to realize the probable interaction of the coronavirus disease 2019 pandemic and the neurologic disease.
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- 2020
16. The rs4846049 polymorphism in the 3’UTR region of the MTHFR gene increases the migraine susceptibility in an Iranian population
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Behnam Safarpour Lima, Reza Mirfakhraie, Mona Amin-Beidokhti, Milad Gholami, Mohaddeseh Salehi, and Gholamreza Javadi
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0301 basic medicine ,medicine.medical_specialty ,biology ,business.industry ,Single-nucleotide polymorphism ,Odds ratio ,medicine.disease ,Gastroenterology ,Genotype frequency ,03 medical and health sciences ,030104 developmental biology ,0302 clinical medicine ,Anesthesiology and Pain Medicine ,Migraine ,Internal medicine ,Methylenetetrahydrofolate reductase ,Genotype ,biology.protein ,Medicine ,business ,Allele frequency ,030217 neurology & neurosurgery ,Genetic association - Abstract
Introduction Migraine is a painful complex neurovascular disease characterized by recurrent moderate-to-severe headaches. Increased level of homocysteine is related to dilation of cerebral vessels and endothelial injury that could trigger migraine attacks. Functional polymorphisms in the MTHFR gene affect homocysteine metabolism and, therefore, play an important role in the etiology of the disease. Objectives We aimed to investigate the possible association between MTHFR gene rs4846049, C677T, and A1298C polymorphisms and the risk of migraine in Iranian population. Methods In this genetic association study, 498 individuals were enrolled, including 223 migraine patients and 275 healthy controls. Genotyping was performed using tetra-primer ARMS-PCR for rs4846049 and PCR-restriction fragment length polymorphism for C677T and A1298C polymorphisms. Results The association between rs4846049 and C677T polymorphisms and migraine was observed. For the rs4846049 polymorphism, the association was detected under a dominant model (P=0.007; odds ratio [OR] =0.60; 95% confidence interval [CI], 0.41-0.87), and for the C677T polymorphism, the TT genotype frequency was significantly different in the studied groups (P=0.009; OR =2.48; 95% CI, 1.25-4.92). No significant differences in the genotype or allele frequencies were found for the A1298C polymorphism between the migraineurs and controls. Conclusion Present data provide evidence for the association of rs4846049 and C677T polymorphisms in the MTHFR gene and migraine. Further studies are required to validate the significance of the studied genetic variations in diverse ethnic populations.
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- 2018
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17. Plasma Cytokines Profile in Subjects with Alzheimer’s Disease: Interleukin 1 Alpha as a Candidate for Target Therapy
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Hossein Ghahremani, Somayeh Mahmoodi Baram, Hessam Sepasi Tehrani, Meisam Mahdavi, Reza Ataeia, Shima Rajaei, Behnam Safarpour Lima, Vajihe Aghamolaii, Somayeh Shateri, Saeed Karima, Abdolrahim Nikzameer, Ali Gorji, Amir Yarhosseini, Abbas Tafakhori, Hamid Fatemi, and Farzad Mokhtari
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medicine.medical_specialty ,biology ,business.industry ,Clinical Dementia Rating ,Monocyte ,Alpha (ethology) ,Interleukin ,Inflammation ,General Medicine ,Transthyretin ,Endocrinology ,medicine.anatomical_structure ,Interferon ,Internal medicine ,biology.protein ,Medicine ,Biomarker (medicine) ,medicine.symptom ,business ,medicine.drug - Abstract
Background: Alzheimer’s disease (AD) is the main cause of the neurodegenerative disorder, which is not detected unless the cognitive deficits are manifested. An early prediagnostic specific biomarker preferably detectable in plasma and hence non-invasive is highly sought-after. Various hypotheses refer to AD, with amyloid-beta (Aβ) being the most studied hypothesis and inflammation being the most recent theory wherein pro-and anti-inflammatory cytokines are the main culprits. Materials and Methods: In this study, the cognitive performance of AD patients (n=39) was assessed using mini-mental state examination (MMSE), AD assessment scale-cognitive subscale (ADAS-cog), and clinical dementia rating (CDR). Their neuropsychiatric symptoms were evaluated through neuropsychiatric inventory–questionnaire (NPI-Q). Moreover, plasma levels of routine biochemical markers, pro-/anti-inflammatory cytokines such as tumor necrosis factor α (TNF-α), interleukin-1 α (IL-1α), IL-1β, IL-2, IL-4, IL-6, IL-8, IL-12p70, IL-10, Interferon-gamma, chemokines, including prostaglandin E2 (PGE-2), monocyte chemoattractant protein-1, interferon gamma-induced protein 10, Aβ peptide species (42, 40) and Transthyretin (TTR) were measured. Results: Our results revealed that Aβ 42/40 ratio and TTR were correlated (r=0.367, P=0.037). IL-1α was directly correlated with ADAS-cog (r=0.386, P=0.017) and Aβ 40 (r=0.379, P=0.019), but was inversely correlated with IL-4 (r=-0.406, P=0.011). Negative correlations were found between MMSE and PGE2 (r=-0.405, P=0.012) and TNF-α/ IL-10 ratio (r=-0.35, P=0.037). CDR was positively correlated with both PGE2 (r=0.358, P=0.027) and TNF-α (r=0.416, P=0.013). There was a positive correlation between NPI-caregiver distress with CDR (r=0.363, P=0.045) and ADAS-cog (r=0.449, P=0.019). Conclusion: Based on the observed correlation between IL-1α, as a clinical moiety, and ADAS-cog, as a clinical manifestation of AD, anti-IL-1α therapy in AD could be suggested. [GMJ.2021;10:e1974]
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- 2021
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18. Pivotal cytokines and their transcription factors are the targets of guluronic acid (G2013) for inhibiting the immunopathogenesis process of multiple sclerosis
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Samira Shabani, Gholamreza Azizi, Nikoo Hossein-Khannazer, Mohadeseh Farokhfar, Behnam Safarpour Lima, Abbas Mirshafeiey, and Farhad Asarzadegan
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Adult ,Male ,medicine.medical_treatment ,Peripheral blood mononuclear cell ,Interleukin 22 ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Multiple Sclerosis, Relapsing-Remitting ,RAR-related orphan receptor gamma ,Drug Discovery ,Gene expression ,medicine ,Humans ,Transcription factor ,Dose-Response Relationship, Drug ,business.industry ,Multiple sclerosis ,Hexuronic Acids ,Middle Aged ,medicine.disease ,Immunosuppressive drug ,Cytokine ,Gene Expression Regulation ,030220 oncology & carcinogenesis ,Case-Control Studies ,Immunology ,Leukocytes, Mononuclear ,Cytokines ,Female ,business ,030217 neurology & neurosurgery ,Immunosuppressive Agents ,Transcription Factors - Abstract
The α-L-guluronic acid (G2013), is a novel immunosuppressive drug (PCT/EP2017/067920). One of the most popular ideas in designing drugs for multiple sclerosis (MS) is to restrict the main inflammation-related lymphocytes and cytokines. The foremost problems with conventional drugs are their side effects and low efficacy. In order to rectify these problems, we examined the effect of two doses of G2013 on the gene expression of IFN-γ, IL-17, IL-22, T-bet, RORC, and AHR, in MS patients PBMCs. RNA was extracted from peripheral blood mononuclear cell (PBMC) of 12 relapsing-remitting MS patients and 12 healthy volunteers and the effect of two doses of G2013 on the gene expression of IFN-γ, IL-17, IL-22, T-bet, RORC, and AHR, were assessed by real-time PCR. Overall, the results show that G2013 is able to significantly reduce the gene expression of IL-22, AHR, RORC, and T-bet. Collectively, G2013 might be considered and studied as a new drug of possible use to MS patients due to its immunosuppressive property on some of the main inflammatory cytokine and transcription factors.
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- 2019
19. Functional improvement and immune-inflammatory cytokines profile of ischaemic stroke patients after treatment with boswellic acids: a randomized, double-blind, placebo-controlled, pilot trial
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Shima Zare Shahamati, Sina Gharahje, Somayeh Mahmoodi Baram, Vajiheh Aghamollaii, Hessam Sepasi Tehrani, Meisam Mahdavi, Shima Rajaei, Maryamosadat Hosseinizadeh, Saeed Karima, Samaneh Kabiri, Behnam Mansouri, Abbas Tafakhori, Behnam Safarpour Lima, Seyed Hossein Aghamiri, Amir Taher Alborzi, Somayeh Shateri, and Akbar Fotouhi
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0301 basic medicine ,Adult ,Male ,medicine.medical_specialty ,Immunology ,Inflammation ,Pilot Projects ,Placebo ,Dinoprost ,law.invention ,Proinflammatory cytokine ,Brain Ischemia ,03 medical and health sciences ,0302 clinical medicine ,Randomized controlled trial ,Double-Blind Method ,law ,Internal medicine ,medicine ,Humans ,Pharmacology (medical) ,Adverse effect ,Stroke ,Aged ,Pharmacology ,Aged, 80 and over ,business.industry ,Middle Aged ,medicine.disease ,Rheumatology ,Triterpenes ,Clinical trial ,030104 developmental biology ,Cytokines ,Female ,medicine.symptom ,Chemokines ,business ,030217 neurology & neurosurgery - Abstract
Ischaemic stroke represents one of the main causes of disability. According to the broad investigations, it is widely assumed that the contribution of inflammatory mediators is strongly involved in its pathogenesis. Hence, it seems that stroke treatment needs more efficient and inflammatory-targeted compounds to modulate inflammatory-related pathways. Such strategies paved the way to achieve better clinical outcomes along with conventional therapies. Boswellic acids (BAs), the main bioactive compounds of Boswellia sp. resin; are triterpenoids with well-documented anti-inflammatory properties. Compared with NSAIDs, BAs cross blood–brain barrier yet they do not cause serious gastrointestinal adverse effects. Considering BAs anti-inflammatory features, we conducted a randomized double-blind placebo-controlled pilot trial of these compounds as a supplementary therapy. This trial randomized 80 ischaemic stroke patients (40–80-years old) with a 4–20 score according to the National Institutes of Health Stroke Scale (NIHSS), within 72 h of neurological sign onset, in 1-month follow-up period. We assessed NIHSS as primary and plasma levels of TNF-α, IL-1α, IL-1β, IL-2, IL-4, IL-6, IL-8, IL-10, IL-12p70, IFN-γ, IP-10, MCP-1, 8-isoprostane, and PGE2 as secondary outcomes. According to NIHSS evaluation, patients who were allocated to BA group had a significant recovery in neurological function during the 1-month follow-up, compared with the placebo. The levels of plasma inflammatory markers were significantly decreased in BA group after 7 days of intervention in TNF-α, IL-1β, IL-6, IL-8, and PGE2. As a preliminary controlled trial in ischaemic stroke, BAs could improve clinical outcome in the early phases of stroke along with promising changes in plasma inflammatory factors. Clinical trial registrationhttps://www.irct.ir Unique identifier: IRCT20170315033086N5. IRCT is a primary registry in the WHO registry network (https://www.who.int/ictrp/network/primary/en/)
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- 2019
20. RIT2 Polymorphisms: Is There a Differential Association?
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Behnam Safarpour Lima, Shaghayegh Taghavi, Monavvar Andarva, Mahmoud Shekari Khaniani, Parasto Shokraeian, Tannaz Safaralizadeh, Peyman Petramfar, Ali Kowsari, Minoo Atakhorrami, Abolfazl Movafagh, Gholam Ali Shahidi, Azadeh Ahmadifard, Tahereh Dadkhah, Mina Ohadi, Marzieh Motallebi, Babak Emamalizadeh, Hossein Darvish, Elham Alehabib, Neda Shahmohammadibeni, Ali Khaligh, Javad Jamshidi, Mohammad Javad Soltani Banavandi, Somayyeh Kazeminasab, Mehdi Khorrami, Ehteram Khademi, Akbar Biglarian, Abbas Tafakhori, Arash Mirabzadeh, Amir Ehtesham Shafiei Zarneh, and Atena Fazeli
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Adult ,Male ,0301 basic medicine ,medicine.medical_specialty ,Bipolar Disorder ,Parkinson's disease ,Neurology ,Genotype ,Essential Tremor ,Neuroscience (miscellaneous) ,Genome-wide association study ,Single-nucleotide polymorphism ,Disease ,Bioinformatics ,Polymerase Chain Reaction ,Polymorphism, Single Nucleotide ,03 medical and health sciences ,Cellular and Molecular Neuroscience ,0302 clinical medicine ,Asian People ,Risk Factors ,mental disorders ,medicine ,Humans ,Genetic Predisposition to Disease ,Bipolar disorder ,Autistic Disorder ,Aged ,Monomeric GTP-Binding Proteins ,Genetics ,Essential tremor ,Parkinson Disease ,Middle Aged ,medicine.disease ,030104 developmental biology ,Autism ,Female ,Psychology ,030217 neurology & neurosurgery ,Genome-Wide Association Study - Abstract
Neurological disorders include a wide variety of mostly multifactorial diseases related to the development, survival, and function of the neuron cells. Single-nucleotide polymorphisms (SNPs) have been extensively studied in neurological disorders, and in a number of instances have been reproducibly linked to disease as risk factors. The RIT2 gene has been recently shown to be associated with a number of neurological disorders, such as Parkinson's disease (PD) and autism. In the study reported here, we investigated the association of the rs12456492 and rs16976358 SNPs of the RIT2 gene with PD, essential tremor (ET), autism, schizophrenia (SCZ), and bipolar disorder (BPD; total of 2290 patients), and 1000 controls, by using polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) method. Significant association was observed between rs12456492 and two disorders, PD and ET, whereas rs16976358 was found to be associated with autism, SCZ, and BPD. Our findings are indicative of differential association between the RIT2 SNPs and different neurological disorders.
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- 2016
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21. Comparison of Pregabalin and Sodium Valproate in Migraine Prophylaxis: A Randomized Double-Blinded Study
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Omid, Hesami, Mohammad Reza, Shams, Ladan, Ayazkhoo, Farhad, Assarzadegan, Behnam, Safarpour Lima, Hosein, Delavar Kasmaei, and Mohammad, Sistanizad
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Valproate sodium ,Prophylaxis ,Pregabalin ,Headache ,Original Article ,Migraine - Abstract
Patients suffering from headache, particularly migraine type, are among the most dissatisfied patients. The aim of this study was comparing the efficacy of pregabalin with valproate sodium, in preventing migraine headache. In a randomized, double-blinded study, adult patients eligible for prophylactic treatment (i.e., patients with 4-15 attacks per month in last two months) were recruited. Patients’ demographic data, duration of symptoms, headache frequency (attacks per month) and intensity (based on visual analogue scale) and also drugs used to relief headache were recorded. The patients were randomly assigned to two groups; valproate sodium (200 mg two times daily) and pregabalin (50 mg two times daily). The patients were examined by neurology specialist monthly for three months and the related data were recorded. The Data were analyzed using SPSS version 21, with related statistical tests. Total number of 140 patients with recurrent migraine were entered into the study. Sixty-nine patients were assigned to group A and 71 to group B by the randomizing table. Inter-group analysis of data in two arms of the study showed that two medications were equally effective except that pregabalin was not significantly effective in reducing number of attacks during first month of therapy compared to baseline. This differences were not significant at second and third month of the study. Our study showed that pregabalin, has comparable efficacy with valproate sodium in reducing migraine frequency, intensity, and duration of attacks and could be an alternative for migraine prophylaxis.
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- 2018
22. Hypoglycemia and cognitive function in diabetic patients
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Parichehr Darvish, Ali Jamshidi Fard, Behnam Safarpour Lima, Seyed Alireza Ebadi, and Omid Gharoei Ahangar
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Adult ,Male ,Pediatrics ,medicine.medical_specialty ,Endocrinology, Diabetes and Metabolism ,030209 endocrinology & metabolism ,Hypoglycemia ,Diabetes Complications ,03 medical and health sciences ,Young Adult ,0302 clinical medicine ,Cognition ,Memory ,Diabetes mellitus ,Internal Medicine ,medicine ,Diabetes Mellitus ,Humans ,Hypoglycemic Agents ,030212 general & internal medicine ,Normal range ,Aged ,Aged, 80 and over ,business.industry ,Incidence (epidemiology) ,Cognitive score ,Mean age ,General Medicine ,Middle Aged ,medicine.disease ,Cross-Sectional Studies ,Case-Control Studies ,Female ,Complication ,business ,Cognition Disorders - Abstract
Aims Hypoglycemia can be considered the most common complication of Diabetes Mellitus treatment. So far, controversial studies have been carried out to examine the impacts of hypoglycemia on the cognitive function. Methods This study was conducted as case-control. The case group was 35 patients with Diabetes Mellitus Types I or II hospitalized in Imam Hussein Hospital, Tehran, Iran, who have experienced hypoglycemic attacks (glucose level below 70 mg/dl). The control group consisted of diabetic patients hospitalized in hospital, but they had no history of hypoglycemia. As the blood glucose level became in normal range and the patients’ Mental status became stable, the brain cognitive function was examined using Mini-Mental State test. Results The mean age of the subjects in the case and control groups was 56.77, 53.73 years old, respectively. The mean cognitive score in the control and hypoglycemic groups was 29.09 and 25.29, respectively. The mean MMSE cognitive score was significantly diminished in the hypoglycemic group (p Conclusions This study indicated that incidence of hypoglycemia in diabetic patients is associated with cognitive disorders. Further, there is a linear association between cognitive disorders and hypoglycemia, age and diabetes mellitus complication.
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- 2018
23. Correlation between MTHFR Genotype Polymorphisms and Different Types of Migraine Headache in Iranian Patients: A Case Control Study
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Mahtab Ramezani, Omid Hesami, Farhad Assarzadegan, Behnam Safarpour Lima, Reza Mirfakhraie, Marjan Asadollahi, and Khosro Jamebozorgi
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medicine.medical_specialty ,education.field_of_study ,business.industry ,Aura ,Population ,Case-control study ,medicine.disease ,Surgery ,Migraine ,Polymorphism (computer science) ,Internal medicine ,Genotype ,medicine ,Genetic predisposition ,Gene polymorphism ,business ,education - Abstract
Background: Migraine affects about 16% of the worldwide population. The pathogenesis of the disease consists of a combination of genetic and environmental factors. Given that, according to different polymorphism studies, ethnicity has a role in the gene diversity of migraine, this study was designed to determine the role of MTHFR C677T gene polymorphism in people from Tehran, Iran, who suffer from migraine headaches. Materials and methods: In this case control study, we determined the prevalence of common MTHFR C677T polymorphism in 132 migraine patients in line with IHS criteria (37 migraine patients with aura and 95 migraine patients without aura) and compared it to that in 142 matched healthy controls. The correlation between migraine and genotype was investigated using the chi-square test. The Bonferroni adjusted P-value was also used for pairwise comparison. Results: Our findings demonstrated that there was no significant difference in the frequencies of the TT genotype or T allele distributions between the migraine patients with aura and the control subjects. On the other hand, the frequency of the TT genotype among migraine patients without aura was significantly lower than those in the control group or the patients with aura group. Conclusion: MTHFR C677T polymorphism, which is responsible for reducing MTHFR activity in the folate metabolism, is not a major genetic susceptibility factor for migraine in the investigated population.
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- 2017
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24. c.376GA mutation in WFS1 gene causes Wolfram syndrome without deafness
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Hamid Ghaedi, Mehdi Khorrami, Monavvar Andarva, Babak Emamalizadeh, Narsis Daftarian, Elham Alehabib, Shaghayegh Taghavi, Farhad Assarzadegan, Omid Hesami, Minoo Atakhorrami, Javad Jamshidi, Azadeh Ahmadifard, Behnam Safarpour Lima, Neda Shahmohammadibeni, Hossein Darvish, Nasim Sohrabifar, Rezvan Noroozi, Simin Rahimi-Aliabadi, and Hamid Ahmadieh
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0301 basic medicine ,Male ,Ataxia ,endocrine system diseases ,Wolfram syndrome ,DNA Mutational Analysis ,030105 genetics & heredity ,03 medical and health sciences ,Young Adult ,Atrophy ,otorhinolaryngologic diseases ,Genetics ,Medicine ,Humans ,Point Mutation ,Gene ,Genetics (clinical) ,business.industry ,Point mutation ,nutritional and metabolic diseases ,Membrane Proteins ,Heterozygote advantage ,Wolfram Syndrome ,General Medicine ,medicine.disease ,Pedigree ,030104 developmental biology ,Peripheral neuropathy ,Mutation (genetic algorithm) ,Female ,medicine.symptom ,business - Abstract
Wolfram syndrome is one of the rare autosomal recessive, progressive, neurodegenerative disorders, characterized by diabetes mellitus and optic atrophy. Several other features are observed in patients including deafness, ataxia, and peripheral neuropathy. A gene called WFS1 is identified on chromosome 4p, responsible for Wolfram syndrome. We investigated a family consisted of parents and 8 children, which 5 of them have been diagnosed for Wolfram syndrome. WFS1 gene in all family members was sequenced for causative mutations. A mutation (c.376G>A, p.A126T) was found in all affected members in homozygous state and in both parents in heterozygous state. The bioinformatics analysis showed the deleterious effects of this nucleotide change on the structure and function of the protein product. As all of the patients in the family showed the homozygote mutation, and parents were both heterozygote, this mutation is probably the cause of the disease. We identified this mutation in homozygous state for the first time as Wolfram syndrome causation. We also showed that this mutation probably doesn't cause deafness in affected individuals.
- Published
- 2015
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