فهرست مطالب

Journal of Advances in Medical and Biomedical Research
Volume:32 Issue: 153, Jul-Aug 2024

  • تاریخ انتشار: 1403/09/25
  • تعداد عناوین: 9
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  • Nejat Mahdieh* Pages 240-243

    Iran's diverse ethnic groups contribute to a unique genetic landscape, impacted by the high rate of consanguineous marriages and the prevalence of common mutation carriers. This leads to a higher incidence of autosomal recessive diseases, including congenital adrenal hyperplasia (CAH), non-syndromic hearing loss, beta-thalassemia, spinal muscular atrophy (SMA), and long QT syndrome (LQT). Common mutations causing these disorders vary across regions and ethnicities, emphasizing the need for tailored genetic screening programs. Advances in molecular diagnostics, like Next-Generation Sequencing and Whole Exome Sequencing, improve early detection and management of these conditions. National genetic screening programs have reduced beta-thalassemia incidence and are essential for informed reproductive decisions. These findings underscore the need for comprehensive public health strategies to tackle genetic disease burdens across Iran’s communities.

    Keywords: Iran, Consanguinity, Congenital Adrenal Hyperplasia (CAH), Beta-Thalassemia, Hearing Loss, Genetic Screening
  • Effat Partovinezhad, Bijan Ghobadian, Said Shiralizadeh, Hossein Partovinezhad, Negin Parsamanesh, Jalal Hejazi, Ehsan Saboory* Pages 244-252
    Background & Objective

    Pain is a common cause of patients referred to the emergency department (ED). The current study was performed to compare the efficacy of ketamine and lidocaine administration instead of intravenous morphine to alleviate acute limb pain in patients.

    Materials & Methods

    In the current triple-blind clinical trial, 40 included patients were divided into two separate groups. The intervention group received ketamine (5mg/kg), lidocaine (2mg/kg), and normal saline (0.1 ml/kg) intravenously (IV), while the control group received 0.1 mg/kg of morphine and nebulizer normal saline. A 10-point pain scale was performed to measure the pain level and its effects before and after treatment. At intervals of 5-60 minutes, the pain was evaluated.

    Results

    The average pain relief between the two groups was not statistically different.  For the first 5-10 minutes after the drug administration, similar pain relief was observed in both groups. In the first 15 minutes, ketamine and lidocaine nebulizer pain relief was better than morphine. The reaction to pain-relieving medication in both groups was more extensive than the three numerical pain assessments. There was no noticeable adverse effect in the studied groups.

    Conclusion

    The ketamine and lidocaine nebulizers in emergency departments can be used as a practical and simple approach to managing acute limb pain. Given that lidocaine was utilized in this investigation to boost ketamine mucosal absorption and prevent probable adverse effects, more trials lacking lidocaine could be conducted to remove lidocaine's effect and better evaluate ketamine's effect. Ketamine can also be used at a higher dose to evaluate its effects and possible side effects.

    Keywords: Numerical Rate Of Scale (NRS), Nebulized, Acute Limb Pain, Ketamine
  • Fatemeh Rangani, Seyed Kaveh Hojjat*, Mahnaz Amini, Lahya Afshari Saleh, Masoud Mohammadzade, Faezeh Yazdani Pages 253-259
    Background & Objective

    One of the most common breathing disorders during sleep is Obstructive sleep apnea (OSA).The aim of this study was  to evaluate the effect of obstructive sleep apnea (OSA) training complications on the follow-up of the polysomnography test response, the purchase of the CPAP, and its use in patients with OSA.

     Materials & Methods

    We investigated 60 patients with OSA who were referred to Ibn Sina Hospital in Mashhad (Iran) for a polysomnography test in 2023. Eligible patients were divided into two groups; the intervention group underwent a 2-hour training session individually about OSA, its consequences, and complications by an expert psychologist. One month after intervention and the prescription of the CPAP by the doctor, the patients were compared in terms of the purchase rate of the CPAP machine, using a CPAP, and the follow-up rate of polysomnography response. However, no special training class was held for the control group; only CPAP was prescribed.

    Results

     The mean (±SD) age was 45.83 (±12.03) vs. 45.50 (±13.52) years in the two groups, respectively. The number (%) of men was 18 (60) vs. 13 (43.3), respectively. After the intervention, the follow-up rate of polysomnography response (66.7 vs. 36.7), purchase of CPAP machine (33.3 vs. 6.7%), and its use (26.7 vs. 6.7) were significantly higher in the intervention group compared to the control group (P<0.05).

    Conclusion

    Educational intervention can increase the follow-up rate of polysomnography response, purchase of the CPAP, and its use in OSA patients.

    Keywords: Sleep Apnea, Polysomnography, Psychoeducation, CPAP
  • Hossein Soleymani Salehabadi, Hamidreza Soltani*, Amirpasha Amel Shahbaz, Fariba Binesh, Ali Dehghan, Hamidreza Bashiri, Mohamadbagher Owlia, Roya Hemayati Pages 260-268
    Background & Objective

    Systemic lupus erythematosus (SLE) is a systemic autoimmune disease affecting 20–50 per 100,000 people. This study aimed to assess the relationship between ultrasound indices and pathological and laboratory parameters in patients with lupus nephritis (LN).

    Materials & Methods

     This cross-sectional, descriptive-diagnostic study was conducted on 32 patients and 32 healthy individuals. Sonographic indices, renal biopsy results, and laboratory parameters were assessed. A Receiver Operating Characteristic (ROC) curve was used to predict sensitivity and specificity. P-value <0.05 was considered significant.

    Results

     The mean GFR and anti-dsDNA levels in patients were 77.4±30.2 ml/min/1.73m² and 2.8±4.4 IU/ml, respectively. Abnormal C3, abnormal C4, and positive aPL were observed in 17 (60.7%), 9 (32.1%), and 8 (28.5%) patients, respectively. In terms of biopsy classification, most patients were in class II (32.1%). The mean biopsy activity index (bxAI) and biopsy chronicity index (bxCI) were 12.11±7.8 and 4.39±3.60, respectively. There was no significant association between the resistive index (RI) and pathological or laboratory parameters (P>0.05). However, a significant association was found between peak systolic velocity (PSV) and end-diastolic velocity (EDV) with GFR, and a negative association between PSV and EDV with aPL and bxCI in patients with LN(P<0.05). The sensitivity and specificity of the anti-dsDNA test for detecting bxCI using a cut-off value of 0.245 were 84% and 96%, respectively (area under the ROC curve = 0.92).

    Conclusion

     This study found no association between RI and pathological or laboratory parameters. However, there was a negative association between PSV and EDV with the degree of chronic kidney damage in patients with LN. Anti-dsDNA appears to be a useful predictor of long-term renal outcomes in these patients.

    Keywords: Laboratory Parameters, Lupus Nephritis, Pathological Parameters, Resistive Index, Ultrasonography
  • Hossein Dehghani*, Mandana Rastegar, Maryam Moossavi, Aazam Ahmadi Shadmehri, Mohammad Dehghani Firoozabadi, Zahra Sorosh Pages 269-279
    Background & Objective

    Dystroglycanopathies represent heterogeneous clinical and genetic disorders typically characterized by weakness of the limb muscle. Pathogenic mutations in the GMPPB gene (OMIM # 615320) have been identified in various syndromes, including CMD, LGMD, and CMS. In this present study, our aim is to elucidate the presence of pathogenic mutation in two consanguineous Iranian families affected by LGMD2T.

      Materials & Methods

     Two families with affected children diagnosed with LGMD2T were recruited in the study. Comprehensive clinical examinations were performed by an expert neurologist on the proband and their respective families. Whole-exome sequencing (WES) was performed on genomic DNA extracted from peripheral blood mononuclear cells. Subsequently, candidate variants were identified using a bioinformatics pipeline, and familial co-segregation was confirmed through sanger sequencing.

    Results

    The present study is focused on two families whose identified variants are confirmed. Our findings revealed a heterozygous missense mutation in the GMPPB gene (NM_021971.4, c.308C>T (p. Pro103Leu) that entirely segregated from the observed phenotypes within his family. This variant was not identified in either the Exome Aggregation Consortium or the 1000 Genomes Project.
     

    Conclusion

    The present findings contribute to the expansion of genetic data for Iranian individuals affected by LGMD2T. This data can be instrumental in enhancing screening, diagnosis, and interpretation within families with a history of this disease.

    Keywords: Dystroglycanopathy, Guanosine Diphosphate-Mannose Pyrophosphorylase-B Coding, Limb-Girdle Muscular Dystrophy, Muscular Dystrophies, Whole Exome Sequencing
  • Mitra Khalili*, Mojtaba Fathi, Reza Pourpak, Mohsen Alipour Pages 280-287
    Background & Objective

     Cardiac microvascular complications are a significant concern in diabetes, often related to dysfunction of the sphingosine-1-phosphate receptor-1 (S1PR1). Aminoguanidine (AG) is recognized for its capability to alleviate these complications by inhibiting advanced glycation compounds and enhancing vascular function in diabetic rats. Therefore, this study seeks to investigate the therapeutic potential of AG by assessing its impact on the gene expression of S1PR1 in the heart tissue of diabetic rats.

     Materials & Methods

     Thirty-four diabetic and healthy rats were stratified into eight groups, including diabetic rats, diabetic rats administered with varying doses of AG 50, 100, and 200 mg/kg, healthy rats treated with the same AG doses, and untreated healthy controls. RNA extraction and cDNA synthesis were performed using heart tissue samples, followed by real-time PCR analysis. The fold change in S1PR1 gene expression was then assessed and compared among diabetic rats treated with varying AG doses and their corresponding control groups.

    Results

    The analysis demonstrated a significant reduction in S1PR1 gene expression in diabetic rats compared to controls. However, AG treatment improved S1PR1 expression, which was correlated with the administered dose, with a notable upregulation observed in rats treated with 200 mg/kg of AG compared to other groups (P<0.001).

    Conclusion

     Considering the significance of the S1PR1 pathway in inhibiting microangiopathy, augmenting S1PR1 gene expression through AG treatment may hold promise in preventing diabetes-related cardiovascular complications.

    Keywords: Sphingosine-1-Phosphate Receptor-1 (S1PR1), Aminoguanidine, Diabetes, Cardiovascular Complications
  • Amir Abdolmaleki, Mona Pazhouhi, Iraj Rashidi, Saeid Heshmati, Cyrus Jalili, Fuzieh Khani-Hematabadi* Pages 288-298
    Background & Objective

    Melanoma, one of the most lethal cancers, originates from epidermal layer. An advanced type of malignant melanoma represents a poor response to chemotherapy or other medications due to intrinsic and/or acquired resistance to antineoplastic drugs. Taraxasterol is a pentacyclic-triterpene agent mainly extracted from Dandelion herb with anti-proliferative and apoptotic features on cancer cells. Thus, this paper investigated the apoptosis pathway caused by Taraxasterol in the human melanoma cell line (hMCL).

    Materials & Methods

    hMCLs were treated with Taraxasterol and IC50 index was calculated using MTT assay. Then, apoptosis rate was evaluated by DNA Fragmentation Calorimetric technique. Finally, apoptosis pathway was investigated through various molecular laboratory assays.

    Results

    Low cellular viability level was found as concentration and time-dependent routes. Induction of apoptosis by IC50 value of Taraxasterol was found significantly (p<0.05) effective. Mitochondria membrane potential index was reduced by Taraxasterol significantly (p<0.05). Also, the cytosolic levels of cytochrome C and expression level of caspase 3, 8, and 9 genes in hMCL were increased significantly (p<0.05) following Taraxasterol administration.   

    Conclusion

    Taraxasterol represents anti-proliferative and toxic effects against hMCL by induction of apoptosis.

    Keywords: Apoptosis, Taraxasterol, Melanoma, Cell Line, In Vitro
  • Mohsen Eslami Farsani, Shahnaz Razavi*, Ebrahim Esfandiari, Homa Rasoolijazi, Reihaneh Seyedebrahimi, Shima Ababzadeh Pages 299-308
    Background & Objective

    Aging related to decline in physiological structure and functional capacity in brain. The aim of this research was to examine the differences in the pathophysiology of the prefrontal cortex (PFC) region between young and old rats.

     Materials & Methods

     The young and old male Wistar rats (n= 40) were subgroups to normal young (NY), exercise young (EY), normal old (NO) and exercise old (EO). A forced aerobic exercise (FAE) program was established using a treadmill for 12 weeks. The exercise program including a turn off treadmill for normal groups while a turn on treadmill at a speed of 10-12 m/min for exercise groups. Toluidine blue and Cresyl-violet staining were used to evaluation of volume white matter (WM) and dark cell numbers in the prefrontal cortex (PFC). Levels of glutathione peroxidase (GPx) and malondialdehyde (MDA) were measured by spectrophotometric and Satoh methods, respectively. Afterward, the percentage of myelin basic protein (MBP) was assessed using immunohistochemical staining.

    Results

    Our findings revealed a significant enhancement in the mean percentage of WM area, percentage of MBP and level of GPx in EO group compared to NO group (P ≤ 0.05). Also, the dark cell number and MDA level decreased in the old rats with exercise compared to NO group (P ≤ 0.05). However, there was no significant difference between other groups (P ≥ 0.05).  

    Conclusion

    The results indicated that normal aging has destructive effects on the PFC and antioxidants rate. However, the regular exercise with specialized program could improve deteriorate changes of aging on brain.

    Keywords: Aging, Prefrontal Cortex, White Matter, Exercise
  • Mehdi Maghbooli*, Shahram Afshari, Mahin Seifi Alan Pages 309-313

    We describe an exceptional instance of multiple sclerosis manifesting in a unilateral, superior visual field deficit accompanied by painful eye movements. A 16-year-old girl with no prior health issues presented with symptoms of blurred vision, ocular pain in eye movement, and a throbbing headache in her right eye. She experienced right-sided numbness for two weeks, which later affected her left limbs. Effective management of multiple sclerosis necessitates familiarity with its uncommon presentations due to the significance of early diagnosis and treatment. Unilateral superior altitudinal visual field defect, orbital pain upon eye movement, and left hemi-paresthesia may be an uncommon presenting symptom in MS patients. After completing treatment with methylprednisolone, visual acuity can improve completely.

    Keywords: Altitudinal, Multiple Sclerosis, Visual Field