Parham Samimisedeh
Current Organizations / Institutes
The organizations/institutes from the scholar's latest article
Research Subjects
Parham Samimisedeh has a total of 43 co-authors. Here are the top co-authors by number of shared publications:
- Hadith Rastad
Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran
6 shared publications Elmira Jafari Afshar
Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran
5 shared publicationsAmirhossein Tayebi
Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran; Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
4 shared publications- Amirhossein Tayebi
Cardiovascular Research Center, Alborz University of Medical Sciences, Karaj, Iran
3 shared publications Hadith Rastad
Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
3 shared publicationsAryan Madady
2 shared publications
Latest Publications
- Open Access
- 1 January 2026
- Published by Wiley in Cardiology Research and Practice
- Vol. 2026 (1)
Clinical and Imaging Findings in 504 Cases With Left Ventricular Pseudoaneurysm Following Myocardial Infarction: A Comprehensive Systematic Review and Meta‐Analysis
Background: Left ventricular pseudoaneurysm (LVPA) is a rare but life‐threatening complication of myocardial infarction (MI). We pooled clinical and imaging findings of post‐MI LVPA reported in case reports/series and compared them with findings in post‐MI left ventricular aneurysm (LVA). Method: We comprehensively searched the literature published since 1991 on online databases. Individual‐level patient data (IPD) and aggregated‐level data (AD) studies were combined through a two‐stage meta‐analysis method. Results: We identified 379 eligible articles on LVPA ( N = 504 patients). LVPA patients were predominantly male (70.4%) with a mean age of 65.4 years (95% CI: 62.4, 68.4). The time interval between the last MI and the diagnosis of LVPA varied from one day to 20 years; 54.5% fell into the acute/subacute category. On echocardiography, the most frequent locations of LVPA were posterior (34.5%) and inferior (21.2%). The average dimensions were 5.7 and 7.3 cm. On MRI, late gadolinium enhancement, primarily pericardial, was observed in 84% of patients. Arrhythmia was more frequently observed in LVA than LVPA (33.8% vs. 1%). Echocardiography showed a lower diagnostic value in LVPA than LVA (sensitivity: 81.4% vs. 97.5%). A higher percentage of LVPA than the LVA group died during hospitalization (13.8% vs. 4.7%) or after discharge (17.5% vs. 9.0%). Conclusion: LVPA is probably located on the posterior and inferior segments in most patients, contrary to LVA, which mainly involves the anterior and apical segments. Arrhythmia is likely a common clinical finding in LVA but not LVPA. Echocardiography may not always detect LVPA in 20% of patients.
- 1 January 2026
- Published by Wiley in Cardiology Research and Practice
- Vol. 2026 (1)
Open AccessClinical and Imaging Findings in 504 Cases With Left Ventricular Pseudoaneurysm Following Myocardial Infarction: A Comprehensive Systematic Review and Meta‐Analysis
Background: Left ventricular pseudoaneurysm (LVPA) is a rare but life‐threatening complication of myocardial infarction (MI). We pooled clinical and imaging findings of post‐MI LVPA reported in case reports/series and compared them with findings in post‐MI left ventricular aneurysm (LVA). Method: We comprehensively searched the literature published since 1991 on online databases. Individual‐level patient data (IPD) and aggregated‐level data (AD) studies were combined through a two‐stage meta‐analysis method. Results: We identified 379 eligible articles on LVPA ( N = 504 patients). LVPA patients were predominantly male (70.4%) with a mean age of 65.4 years (95% CI: 62.4, 68.4). The time interval between the last MI and the diagnosis of LVPA varied from one day to 20 years; 54.5% fell into the acute/subacute category. On echocardiography, the most frequent locations of LVPA were posterior (34.5%) and inferior (21.2%). The average dimensions were 5.7 and 7.3 cm. On MRI, late gadolinium enhancement, primarily pericardial, was observed in 84% of patients. Arrhythmia was more frequently observed in LVA than LVPA (33.8% vs. 1%). Echocardiography showed a lower diagnostic value in LVPA than LVA (sensitivity: 81.4% vs. 97.5%). A higher percentage of LVPA than the LVA group died during hospitalization (13.8% vs. 4.7%) or after discharge (17.5% vs. 9.0%). Conclusion: LVPA is probably located on the posterior and inferior segments in most patients, contrary to LVA, which mainly involves the anterior and apical segments. Arrhythmia is likely a common clinical finding in LVA but not LVPA. Echocardiography may not always detect LVPA in 20% of patients.
- Open Access
- 7 July 2025
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 14 (13) , 4791
Association of Atrial Fibrillation with Incident Probable Dementia and Cognitive Impairment in the Systolic Blood Pressure Intervention Trial (SPRINT)
Background: The association between atrial fibrillation (AF) and dementia and cognitive decline in individuals with hypertension is not well established. Methods: The Systolic Blood Pressure Intervention Trial (SPRINT) enrolled participants with hypertension at high risk of cardiovascular disease (CVD) but without diabetes or a history of stroke. Participants with baseline pre-existing clinical dementia, prescribed dementia medications, or missing AF or cognition data were excluded. AF was identified using centrally read electrocardiograms. Mild cognitive impairment (MCI) and probable dementia (PD) were determined during follow-up by an adjudication committee. Multivariable Cox proportional hazards regression models were employed to assess the association of time-dependent AF with MCI, PD, and a composite endpoint of MCI/PDI. Results: A total of 8539 participants (mean age: 67.9 years; 35.1% female) were included in the analysis. Of these, 264 had AF at baseline or during follow-up. Over a median follow-up period of 5 years, 318 PD, 625 MCI, and 849 composite PD or MCI events occurred. In models adjusted for treatment assignment, baseline sociodemographics, CVD risk factors, and potential confounders, time-dependent AF was associated with incident PD, MCI, and a composite endpoint of MCI/PDI [HR (95% CI): 1.84 (1.09, 3.13), 1.59 (1.01, 2.53), and 1.63 (1.12, 2.38), respectively]. Further adjustment for incident stroke did not significantly change these associations. Conclusions: AF is associated with an increased risk of dementia and cognitive impairment in patients with hypertension but not diabetes or stroke. Further research is needed to determine whether AF management strategies can mitigate cognitive decline.
- 7 July 2025
- Published by MDPI AG in Journal of Clinical Medicine
- Vol. 14 (13) , 4791
Open AccessAssociation of Atrial Fibrillation with Incident Probable Dementia and Cognitive Impairment in the Systolic Blood Pressure Intervention Trial (SPRINT)
Background: The association between atrial fibrillation (AF) and dementia and cognitive decline in individuals with hypertension is not well established. Methods: The Systolic Blood Pressure Intervention Trial (SPRINT) enrolled participants with hypertension at high risk of cardiovascular disease (CVD) but without diabetes or a history of stroke. Participants with baseline pre-existing clinical dementia, prescribed dementia medications, or missing AF or cognition data were excluded. AF was identified using centrally read electrocardiograms. Mild cognitive impairment (MCI) and probable dementia (PD) were determined during follow-up by an adjudication committee. Multivariable Cox proportional hazards regression models were employed to assess the association of time-dependent AF with MCI, PD, and a composite endpoint of MCI/PDI. Results: A total of 8539 participants (mean age: 67.9 years; 35.1% female) were included in the analysis. Of these, 264 had AF at baseline or during follow-up. Over a median follow-up period of 5 years, 318 PD, 625 MCI, and 849 composite PD or MCI events occurred. In models adjusted for treatment assignment, baseline sociodemographics, CVD risk factors, and potential confounders, time-dependent AF was associated with incident PD, MCI, and a composite endpoint of MCI/PDI [HR (95% CI): 1.84 (1.09, 3.13), 1.59 (1.01, 2.53), and 1.63 (1.12, 2.38), respectively]. Further adjustment for incident stroke did not significantly change these associations. Conclusions: AF is associated with an increased risk of dementia and cognitive impairment in patients with hypertension but not diabetes or stroke. Further research is needed to determine whether AF management strategies can mitigate cognitive decline.
- Open Access
- 1 January 2024
- Vol. 12 (1) , e43
Immature Platelet Fraction and Acute Coronary Syndrome; a Systematic Review and Meta-Analysis
Introduction: Immature Platelet Fraction (IPF) is a measure of the proportion of reticulated platelets (RPs) to all platelets in circulation. IPF may have both prognostic and diagnostic values in patients with Acute Coronary Syndrome (ACS). This study aims to comprehensively summarize the diagnostic utility of IPF levels in patients with ACS, specifically focusing on its ability to differentiate between different subtypes of ACS. Methods: We conducted a systematic search in online databases including MEDLINE, Scopus, and Google Scholar up to March 4th 2024, to identify relevant studies. The random-effect model, employing inverse variance for mean differences (MD) and Mantel-Haenszel methods for odds ratios (OR) were utilized to combine the data. Joanna Briggs Institute (JBI) appraisal tool was employed to assess the quality of included studies. Results: Our systematic review contains 15 articles with a total sample size of 2,030 ACS patients. Pooled analysis revealed significant differences in IPF levels of ACS patients compared to healthy controls (MD (95%CI): 2.85 (0.86, 4.85), P-value = 0.004) and stable angina patients (MD (95%CI): 0.58 (0.23, 0.92), P-value < 0.001). Subgroup comparisons within ACS patients demonstrated higher IPF levels in myocardial infarction (MI) vs. unstable angina (UA) (MD (95%CI): 1.81 (0.41, 3.22), P-value = 0.01), ST elevation MI (STEMI) vs. non -ST elevation (NSTEMI) ACS (MD (95%CI): 0.74 (0.31, 1.17), P-value < 0.001), and NSTEMI vs. UA (MD (95% CI): 1.07 (0.24, 1.90), P-value = 0.01). Conclusion: IPF levels could increase in patients with ACS, particularly during the acute phase of STEMI. This suggests that IPF may be a useful biomarker for early diagnosis of ACS. Additionally, IPF levels may help differentiate between ACS subtypes.
- 1 January 2024
- Vol. 12 (1) , e43
Open AccessImmature Platelet Fraction and Acute Coronary Syndrome; a Systematic Review and Meta-Analysis
Introduction: Immature Platelet Fraction (IPF) is a measure of the proportion of reticulated platelets (RPs) to all platelets in circulation. IPF may have both prognostic and diagnostic values in patients with Acute Coronary Syndrome (ACS). This study aims to comprehensively summarize the diagnostic utility of IPF levels in patients with ACS, specifically focusing on its ability to differentiate between different subtypes of ACS. Methods: We conducted a systematic search in online databases including MEDLINE, Scopus, and Google Scholar up to March 4th 2024, to identify relevant studies. The random-effect model, employing inverse variance for mean differences (MD) and Mantel-Haenszel methods for odds ratios (OR) were utilized to combine the data. Joanna Briggs Institute (JBI) appraisal tool was employed to assess the quality of included studies. Results: Our systematic review contains 15 articles with a total sample size of 2,030 ACS patients. Pooled analysis revealed significant differences in IPF levels of ACS patients compared to healthy controls (MD (95%CI): 2.85 (0.86, 4.85), P-value = 0.004) and stable angina patients (MD (95%CI): 0.58 (0.23, 0.92), P-value < 0.001). Subgroup comparisons within ACS patients demonstrated higher IPF levels in myocardial infarction (MI) vs. unstable angina (UA) (MD (95%CI): 1.81 (0.41, 3.22), P-value = 0.01), ST elevation MI (STEMI) vs. non -ST elevation (NSTEMI) ACS (MD (95%CI): 0.74 (0.31, 1.17), P-value < 0.001), and NSTEMI vs. UA (MD (95% CI): 1.07 (0.24, 1.90), P-value = 0.01). Conclusion: IPF levels could increase in patients with ACS, particularly during the acute phase of STEMI. This suggests that IPF may be a useful biomarker for early diagnosis of ACS. Additionally, IPF levels may help differentiate between ACS subtypes.
- 24 November 2023
- Published by Taylor & Francis in Infectious Diseases
- Vol. 56 (3) , 193-205
Post-acute midterm follow-up cardiac MRI findings and clinical outcomes in patients with COVID-19 vaccine-associated myocarditis: a comprehensive systematic review and meta-analysis
PurposeAlthough previous investigations revealed favourable in-hospital outcomes of COVID-19 vaccine-related myocarditis, the mid-term prognosis is still unclear. Hence, we aim to summarise existing evidence on the follow-up imaging and clinical findings in patients with COVID-19 vaccine-related myocarditis.MethodsWe performed a systematic search in online databases using relevant key terms covering COVID-19 vaccine, myocarditis, follow-up, and cardiac MRI. We included all observational studies that reported cardiac MRI findings of patients with myocarditis following COVID-19 vaccination in both acute and follow-up phases. Data on clinical outcomes and cardiac MRI findings were extracted and pooled using a random-effect model.ResultsA total of 27 studies (126 patients) met our eligibility criteria. At the time of follow-up, myocarditis symptoms were resolved in all patients, but abnormal electrocardiography and elevated troponin levels were detected in 18.7% and 3.8% of them, respectively. Median imaging follow-up times varied from 3 to 6.3 months. On follow-up cardiac MRI, the persistence of LGE was observed in 76% (95%CI: 62 to 85%), but its extension declined compared to the baseline in almost all patients. Persistent LGE was accompanied by myocardial edoema in six patients, and it was consistent with myocardial fibrosis (LGE without edoema) in the remaining cases. Mean changes (95%CI) of cardiac MRI left ventricular ejection fraction (LVEF) (%) was +2.97 (+1.59 to +4.34) from baseline.ConclusionIn conclusion, although most patients likely experience favourable clinical outcomes without serious complications, cardiac MRI abnormalities, mainly LGE, may persist in a notable proportion of them beyond the acute phase.
- 24 November 2023
- Published by Taylor & Francis in Infectious Diseases
- Vol. 56 (3) , 193-205
Post-acute midterm follow-up cardiac MRI findings and clinical outcomes in patients with COVID-19 vaccine-associated myocarditis: a comprehensive systematic review and meta-analysis
PurposeAlthough previous investigations revealed favourable in-hospital outcomes of COVID-19 vaccine-related myocarditis, the mid-term prognosis is still unclear. Hence, we aim to summarise existing evidence on the follow-up imaging and clinical findings in patients with COVID-19 vaccine-related myocarditis.MethodsWe performed a systematic search in online databases using relevant key terms covering COVID-19 vaccine, myocarditis, follow-up, and cardiac MRI. We included all observational studies that reported cardiac MRI findings of patients with myocarditis following COVID-19 vaccination in both acute and follow-up phases. Data on clinical outcomes and cardiac MRI findings were extracted and pooled using a random-effect model.ResultsA total of 27 studies (126 patients) met our eligibility criteria. At the time of follow-up, myocarditis symptoms were resolved in all patients, but abnormal electrocardiography and elevated troponin levels were detected in 18.7% and 3.8% of them, respectively. Median imaging follow-up times varied from 3 to 6.3 months. On follow-up cardiac MRI, the persistence of LGE was observed in 76% (95%CI: 62 to 85%), but its extension declined compared to the baseline in almost all patients. Persistent LGE was accompanied by myocardial edoema in six patients, and it was consistent with myocardial fibrosis (LGE without edoema) in the remaining cases. Mean changes (95%CI) of cardiac MRI left ventricular ejection fraction (LVEF) (%) was +2.97 (+1.59 to +4.34) from baseline.ConclusionIn conclusion, although most patients likely experience favourable clinical outcomes without serious complications, cardiac MRI abnormalities, mainly LGE, may persist in a notable proportion of them beyond the acute phase.
- Open Access
- 6 October 2023
- Published by Wolters Kluwer Health in Medicine
- Vol. 102 (40) , e34890
Clinical features and outcomes of Myasthenia Gravis associated with COVID-19 vaccines: A systematic review and pooled analysis
Backgrounds: Myasthenia Gravis (MG), a chronic neuromuscular junction disorder, emerged as one of the serious side effects of the Coronavirus Disease 2019 (COVID-19) vaccination. We aimed to summarize the findings of studies on the clinical features and outcomes of COVID-19 vaccination-associated MG. Methods: We performed a systematic search on 3 databases, Medline, Embase, and Scopus, using the query “COVID-19 vaccine” and “Myasthenia Gravis.” Patients’ data, including clinical data, MG subtype, vaccine type, and vaccine dose number, were extracted from the eligible studies. Results: A total of 20 COVID-19 vaccination-related MGs have been reported worldwide. The median (interquartile range) age was 64 (51, 75) years; 85% (17/20) of them were male, and 70% (14/20) of patients had received messenger RNA-based vaccines. The most common symptoms, in order of frequency, were binocular diplopia (8/11) and ptosis (4/11); the median (interquartile range) time from vaccine to MG symptoms was 6 (2, 7.5) days. Repetitive nerve stimulation showed abnormal decrement in 85% (11/13) of patients, and all 4 patients getting single-fiber electromyography showed an abnormal finding. Nine out of twelve patients with data on clinical outcomes experienced partial/complete improvement of symptoms within 1 month. Conclusion: MG cases after the COVID-19 vaccine are more likely to occur among males and adults older than 50 years. Our pooled cohort data suggest MG symptoms appear within 2 weeks after receiving the vaccine. The presenting symptoms in MG cases associated with COVID-19 vaccine are possibly similar to non-vaccination related MGs. Most patients are expected to experience partial/complete improvement within 1 month.
- 6 October 2023
- Published by Wolters Kluwer Health in Medicine
- Vol. 102 (40) , e34890
Open AccessClinical features and outcomes of Myasthenia Gravis associated with COVID-19 vaccines: A systematic review and pooled analysis
Backgrounds: Myasthenia Gravis (MG), a chronic neuromuscular junction disorder, emerged as one of the serious side effects of the Coronavirus Disease 2019 (COVID-19) vaccination. We aimed to summarize the findings of studies on the clinical features and outcomes of COVID-19 vaccination-associated MG. Methods: We performed a systematic search on 3 databases, Medline, Embase, and Scopus, using the query “COVID-19 vaccine” and “Myasthenia Gravis.” Patients’ data, including clinical data, MG subtype, vaccine type, and vaccine dose number, were extracted from the eligible studies. Results: A total of 20 COVID-19 vaccination-related MGs have been reported worldwide. The median (interquartile range) age was 64 (51, 75) years; 85% (17/20) of them were male, and 70% (14/20) of patients had received messenger RNA-based vaccines. The most common symptoms, in order of frequency, were binocular diplopia (8/11) and ptosis (4/11); the median (interquartile range) time from vaccine to MG symptoms was 6 (2, 7.5) days. Repetitive nerve stimulation showed abnormal decrement in 85% (11/13) of patients, and all 4 patients getting single-fiber electromyography showed an abnormal finding. Nine out of twelve patients with data on clinical outcomes experienced partial/complete improvement of symptoms within 1 month. Conclusion: MG cases after the COVID-19 vaccine are more likely to occur among males and adults older than 50 years. Our pooled cohort data suggest MG symptoms appear within 2 weeks after receiving the vaccine. The presenting symptoms in MG cases associated with COVID-19 vaccine are possibly similar to non-vaccination related MGs. Most patients are expected to experience partial/complete improvement within 1 month.
- 18 September 2023
- Published by Wiley in Journal of Human Nutrition and Dietetics
- Vol. 37 (1) , 57-78
The impact of vegetarian diet on sperm quality, sex hormone levels and fertility: a systematic review and meta‐analysis
Background: An increasing number of people have adhered to a vegetarian diet for several years. Nowadays, the favourable effect of this dietary pattern on metabolic diseases is well established, but its impact on fertility and reproductive health as a serious health concern is not clear yet.Therefore, we aim to summarise existing evidence regarding the possible association between a vegetarian diet and fertility as measured by key indicators such as sperm quality and sex hormone levels.Methods: We systematically searched online databases, including PubMed, ISI, Scopus and Google Scholar, up to 1 December 2022 using relevant keywords. We included observational studies that compared semen quality, sex hormone levels and infertility in people who adhered to a vegetarian diet versus an omnivore diet. Heterogeneity between studies was assessed using I2 and Q tests. Standardised mean differences (SMD) using a random/fixed model were calculated to assess outcomes between vegetarians and omnivores in included articles.Results: Finally, out of 972 documents that were retrieved, 20 articles met our inclusion criteria, and 16 were eligible for quantitative synthesis. Results of meta‐analyses showed that there were no significant differences between vegetarians and omnivores in terms of semen quality parameters, including total sperm count, total and progressive sperm motility, sperm morphology and sperm concentration. Seven studies on female sex hormone profiles were eligible for meta‐analysis. The only significant difference was the lower level of plasma oestrone in vegetarians (pooled SMD: −0.56; 95% confidence interval [CI]: −1.08, −0.05; p‐value = 0.03) compared to omnivores. Furthermore, our meta‐analysis revealed significantly higher sex‐hormone‐binding globulin levels in vegetarian men than in omnivores (pooled SMD: 0.52; 95% CI: 0.18, 0.86; p‐value = 0.002).Conclusion: Despite the numerous health benefits of a vegetarian diet, our review suggested that there were no conclusive positive or negative associations between vegetarian diet and semen quality, sex hormone levels and infertility. Further studies are recommended to better understand vegetarian dietary pattern effect on infertility and reproductive health.
- 18 September 2023
- Published by Wiley in Journal of Human Nutrition and Dietetics
- Vol. 37 (1) , 57-78
The impact of vegetarian diet on sperm quality, sex hormone levels and fertility: a systematic review and meta‐analysis
Background: An increasing number of people have adhered to a vegetarian diet for several years. Nowadays, the favourable effect of this dietary pattern on metabolic diseases is well established, but its impact on fertility and reproductive health as a serious health concern is not clear yet.Therefore, we aim to summarise existing evidence regarding the possible association between a vegetarian diet and fertility as measured by key indicators such as sperm quality and sex hormone levels.Methods: We systematically searched online databases, including PubMed, ISI, Scopus and Google Scholar, up to 1 December 2022 using relevant keywords. We included observational studies that compared semen quality, sex hormone levels and infertility in people who adhered to a vegetarian diet versus an omnivore diet. Heterogeneity between studies was assessed using I2 and Q tests. Standardised mean differences (SMD) using a random/fixed model were calculated to assess outcomes between vegetarians and omnivores in included articles.Results: Finally, out of 972 documents that were retrieved, 20 articles met our inclusion criteria, and 16 were eligible for quantitative synthesis. Results of meta‐analyses showed that there were no significant differences between vegetarians and omnivores in terms of semen quality parameters, including total sperm count, total and progressive sperm motility, sperm morphology and sperm concentration. Seven studies on female sex hormone profiles were eligible for meta‐analysis. The only significant difference was the lower level of plasma oestrone in vegetarians (pooled SMD: −0.56; 95% confidence interval [CI]: −1.08, −0.05; p‐value = 0.03) compared to omnivores. Furthermore, our meta‐analysis revealed significantly higher sex‐hormone‐binding globulin levels in vegetarian men than in omnivores (pooled SMD: 0.52; 95% CI: 0.18, 0.86; p‐value = 0.002).Conclusion: Despite the numerous health benefits of a vegetarian diet, our review suggested that there were no conclusive positive or negative associations between vegetarian diet and semen quality, sex hormone levels and infertility. Further studies are recommended to better understand vegetarian dietary pattern effect on infertility and reproductive health.
- 3 April 2023
- Published by SAGE Publications in Annals of Otology, Rhinology & Laryngology
- Vol. 132 (11) , 1493-1495
A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures
Background: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity. Objectives: To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene. Methods: Case reports and review of literatures. Results: In this study, the proband was a 32-year-old woman seeking pre-marriage genetic counseling with non-syndromic congenital hearing loss. An owing negative test for GJB2 mutations, she underwent exome sequencing, unveiling a novel homozygous exon 2 deletion of the GRXCR1 gene. This mutation was confirmed in her affected mother and sibling by PCR and Quantitative Real-Time PCR. Conclusion: We identified a novel GRXCR1 gene mutation related to congenital hearing loss in a family. Our study highlights the efficiency of exome sequencing in discovering gene mutations in cases of diseases with genetic heterogeneity.
- 3 April 2023
- Published by SAGE Publications in Annals of Otology, Rhinology & Laryngology
- Vol. 132 (11) , 1493-1495
A Novel Exon 2 Deletion Mutation in the GRXCR1 Gene Associated With Non-Syndromic Hearing Loss: A Case Report and Review of Literatures
Background: About 80% of congenital hearing loss cases have genetic causes, often autosomal recessive and non-syndromic. Autosomal Recessive Non-syndromic hearing loss is characterized by extreme genetic heterogeneity. Objectives: To report a case of congenital hearing loss with novel homozygous deletion in GRXCR1 gene. Methods: Case reports and review of literatures. Results: In this study, the proband was a 32-year-old woman seeking pre-marriage genetic counseling with non-syndromic congenital hearing loss. An owing negative test for GJB2 mutations, she underwent exome sequencing, unveiling a novel homozygous exon 2 deletion of the GRXCR1 gene. This mutation was confirmed in her affected mother and sibling by PCR and Quantitative Real-Time PCR. Conclusion: We identified a novel GRXCR1 gene mutation related to congenital hearing loss in a family. Our study highlights the efficiency of exome sequencing in discovering gene mutations in cases of diseases with genetic heterogeneity.
- 5 March 2023
- Published by Elsevier in Pathology - Research and Practice
- Vol. 245, 154403
Clinicopathological and prognostic value of lncRNA TPT1-AS1 in cancer: A systematic review study and meta-analysis
- 5 March 2023
- Published by Elsevier in Pathology - Research and Practice
- Vol. 245, 154403
Clinicopathological and prognostic value of lncRNA TPT1-AS1 in cancer: A systematic review study and meta-analysis
- Open Access
Clinical characteristic and imaging findings of post-infarction left ventricular pseudoaneurysm versus aneurysm: a pooled analysis of 21,472 patients
Background: Left ventricular pseudoaneurysm (LVPA) is a rare but life-threatening complication of myocardial infarction (MI). Given the similarities in the clinical presentations and the appearance of the cardiac imaging, differentiation of LVPA from left ventricular aneurysm (LVA) remains a challenge but is imperative for timely management. We summarized and compared clinical and imaging findings of post-MI LVPA and LVA. Method: We performed a comprehensive search of the literature in PubMed and Scopus databases using combinations of key terms covering LVPA / LVA and MI. In both LVA and LVPA, individual-level patient data (IPD) and aggregated-level data (AD) studies were combined through a two-stage analysis method. Results: We identified 379 eligible articles on LVPA (N= 504 patients) and 120 on LVA (n= 20,968). Based on our pooled analysis, cases were predominantly male in both groups (70.4%and 75.7 %, respectively), but LVPA patients were roughly older (Mean (95% Confidence interval (CI): (65.4 (62.4, 68.4) vs. 60.8 (58.9, 62.8) years, respectively) and had a shorter mean time interval from MI to diagnosis than LVA (5.1 vs. 27.8, months). At presentation, while 33.8 (95% CI: 22.1, 46.0) of patients with LVA had arrhythmia, only 1.0 % (95% CI: 0.0, 2.9) of LVPA patients presented with this symptom. LVPA compared to the LVA group, more frequently had ST-segment elevation (43.2% Vs. 28.6, respectively) but less frequently ECG signs of the old MI (42.2% Vs. 61.9, respectively). Echocardiography showed a lower diagnostic value in LVPA than LVA (Sensitivity: 81.4% Vs. 97.5%). Contrary to LVA, LVPA is mainly located on posterior and inferior segments based on echocardiography evaluations. On Cardiac MRI, the majority of LVPA patients had pericardial LGE (84.0% (CI 95%: 63.9, 95.5)). A higher percentage of LVPA compared to the LVA group dead during hospitalization (13.8% vs. 4.7%, respectively) or after discharge (17.5%vs. vs. 9.0%, respectively). Conclusion: Arrhythmia is likely common in LVA patients at presentation but not in LVPA. LVPA is mainly located on the posterior and inferior, and LVA is on the anterior and apical segments. On cardiac MRI, pericardial LGE may suggest the presence of LVPA rather than LVA in suspected patients.
Open AccessClinical characteristic and imaging findings of post-infarction left ventricular pseudoaneurysm versus aneurysm: a pooled analysis of 21,472 patients
Background: Left ventricular pseudoaneurysm (LVPA) is a rare but life-threatening complication of myocardial infarction (MI). Given the similarities in the clinical presentations and the appearance of the cardiac imaging, differentiation of LVPA from left ventricular aneurysm (LVA) remains a challenge but is imperative for timely management. We summarized and compared clinical and imaging findings of post-MI LVPA and LVA. Method: We performed a comprehensive search of the literature in PubMed and Scopus databases using combinations of key terms covering LVPA / LVA and MI. In both LVA and LVPA, individual-level patient data (IPD) and aggregated-level data (AD) studies were combined through a two-stage analysis method. Results: We identified 379 eligible articles on LVPA (N= 504 patients) and 120 on LVA (n= 20,968). Based on our pooled analysis, cases were predominantly male in both groups (70.4%and 75.7 %, respectively), but LVPA patients were roughly older (Mean (95% Confidence interval (CI): (65.4 (62.4, 68.4) vs. 60.8 (58.9, 62.8) years, respectively) and had a shorter mean time interval from MI to diagnosis than LVA (5.1 vs. 27.8, months). At presentation, while 33.8 (95% CI: 22.1, 46.0) of patients with LVA had arrhythmia, only 1.0 % (95% CI: 0.0, 2.9) of LVPA patients presented with this symptom. LVPA compared to the LVA group, more frequently had ST-segment elevation (43.2% Vs. 28.6, respectively) but less frequently ECG signs of the old MI (42.2% Vs. 61.9, respectively). Echocardiography showed a lower diagnostic value in LVPA than LVA (Sensitivity: 81.4% Vs. 97.5%). Contrary to LVA, LVPA is mainly located on posterior and inferior segments based on echocardiography evaluations. On Cardiac MRI, the majority of LVPA patients had pericardial LGE (84.0% (CI 95%: 63.9, 95.5)). A higher percentage of LVPA compared to the LVA group dead during hospitalization (13.8% vs. 4.7%, respectively) or after discharge (17.5%vs. vs. 9.0%, respectively). Conclusion: Arrhythmia is likely common in LVA patients at presentation but not in LVPA. LVPA is mainly located on the posterior and inferior, and LVA is on the anterior and apical segments. On cardiac MRI, pericardial LGE may suggest the presence of LVPA rather than LVA in suspected patients.