Nahed Dawood, El-Shaimaa Shabana, Ashraf A.H. El-Midany, Faten R. Abdelghaffar, I. El-Garawani, Rizk Elbaz
{"title":"Association of TGFBR2 gene polymorphisms (rs6785358 and rs764522) with congenital heart disease susceptibility in Egyptians","authors":"Nahed Dawood, El-Shaimaa Shabana, Ashraf A.H. El-Midany, Faten R. Abdelghaffar, I. El-Garawani, Rizk Elbaz","doi":"10.37349/emed.2024.00212","DOIUrl":"https://doi.org/10.37349/emed.2024.00212","url":null,"abstract":"Aim: Transforming growth factor beta (TGF-β) receptor II (TGFBR2) is a basic constituent of TGF-β signalling pathway and is important in heart development. This study investigates the relationship between TGFBR2 gene variance and congenital heart defects (CHD) among Egyptians. Methods: The study involved 75 CHD-affected subjects and 100 healthy controls. Genotyping of two selected tag single nucleotide polymorphisms (tagSNPs, rs6785358, rs764522) within the TGFBR2 gene was conducted using polymerase chain reaction-restriction fragment length polymorphism method (PCR-RFLP) assays. Results: Significant genotype differences were found for rs764522 and rs6785358 (P < 0.05). In the case of rs6785358, the G/G genotype was more prevalent in cases than controls (18.7% vs. 4.0%). This significance was observed in both the codominant model [A/A vs. A/G vs. G/G; odds ratio (OR) = 0.20, 95% confidence interval (CI) = 0.06–0.66, P = 0.0073] and the recessive model (A/A + A/G vs. G/G; OR = 0.19, 95% CI = 0.06–0.60, P = 0.0018). For rs764522, the G/G genotype was more prevalent in cases than controls (21.3% vs. 0.0%). Significant associations were observed in the codominant model (C/C vs. C/G vs. G/G; OR = 0.43, 95% CI = 0.02–0.90, P < 0.0001), as well as in the dominant model (C/C vs. C/G + G/G) and recessive model (C/C + C/G vs. G/G; P < 0.0001). Gender-specific analysis indicated that the C/G genotype was less common in male cases compared to females and controls (OR = 0.24, 95% CI = 0.07–0.84). For rs6785358, the G/G genotype frequency was higher in male cases compared to females and controls (OR = 0.10, 95% CI = 0.01–0.88 and OR = 0.22, 95% CI = 0.05–0.94, respectively). Conclusions: These findings indicate that TGFBR2 gene SNPs (rs6785358 and rs764522) may be risk factors for CHD in Egyptians.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"85 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-03-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140366386","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Romila Chimoriya, Gaurav Kumar, Kritika Rana, Ritesh Chimoriya, Reena Anand, K. S. Dagar, N. Awasthy
{"title":"Role of chest radiographs and electrocardiograms in predicting the hemodynamics of congenital heart disease","authors":"Romila Chimoriya, Gaurav Kumar, Kritika Rana, Ritesh Chimoriya, Reena Anand, K. S. Dagar, N. Awasthy","doi":"10.37349/emed.2024.00210","DOIUrl":"https://doi.org/10.37349/emed.2024.00210","url":null,"abstract":"Aim: This study aimed to evaluate the role of chest radiographs and electrocardiograms in predicting the hemodynamics of congenital heart disease (CHD). Methods: This retrospective study included 50 patients with a diagnosis of CHD who had undergone any form of cardiac intervention, either surgical or nonsurgical between September 2019 and September 2020. Chest radiographs and electrocardiograms were evaluated and compared with the diagnostic gold standard echocardiography. Results: Chest radiographs had the highest sensitivity, specificity, and accuracy, with all being 100%, in detecting situs and cardiac position. There was a very good agreement between chest radiographs and echocardiography in the detection of both situs and cardiac position (κ = 1.00, P < 0.001), while moderate agreement was observed for the detection of cardiomegaly, position of the aortic knuckle, main pulmonary artery dilation, and right pulmonary artery dilation. Electrocardiograms had a high sensitivity (100.00%), but modest specificity and accuracy for the detection of left ventricle pressure overload. For the detection of left atrial enlargement and left ventricle volume overload, electrocardiograms had high specificity (94.12% and 94.29%, respectively) but low sensitivity and modest accuracy. There was a moderate agreement between electrocardiograms and echocardiography in the detection of right ventricle pressure overload (κ = 0.43, P = 0.002) and left ventricle volume overload (κ = 0.46, P < 0.001). Conclusions: The study findings indicate that chest radiographs and electrocardiograms alone are not adequate for the assessment of hemodynamics of CHD and reinstates the recommendation that in addition to routine chest radiographs and electrocardiograms, echocardiography should be performed.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"4 4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140410532","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Madeline Pilkington, Declan Lloyd, Brad Guo, S. Watson, K. Ooi
{"title":"Effects of dietary imbalances of micro- and macronutrients on the ocular microbiome and its implications in dry eye disease","authors":"Madeline Pilkington, Declan Lloyd, Brad Guo, S. Watson, K. Ooi","doi":"10.37349/emed.2024.00211","DOIUrl":"https://doi.org/10.37349/emed.2024.00211","url":null,"abstract":"Dry eye disease (DED) is a complex and multifactorial ocular surface disease affecting a large proportion of the population. There is emerging evidence of the impact of the microbiomes of the ocular surface and gut on the symptoms of DED, with many parallels being drawn to inflammatory diseases of other organ systems. A key factor involved in the promotion of healthy microbiomes, and which has been associated with ocular surface disease, is micro- and macronutrient deficiency. A comprehensive review of how these deficiencies can contribute to DED is absent from the literature. This review reports the composition of healthy ocular and gut microbiomes, and how nutrient deficiencies may impact these floral populations, with linkage to the subsequent impact on ocular health. The review highlights that vitamin B1 and iron are linked to reduced levels of butyrate, a fatty acid implicated in inflammatory conditions such as ulcerative colitis which itself is a condition known to be associated with ocular surface diseases. Vitamin B12 has been shown to have a role in maintaining gut microbial eubiosis and has been linked to the severity of dry eye symptoms. Similar beneficial effects of gut microbial eubiosis were noted with vitamin A and omega-3 polyunsaturated fatty acids. Selenium and calcium have complex interactions with the gut microbiome and have both been implicated in the development of thyroid orbitopathy. Further, diabetes mellitus is associated with ocular surface diseases and changes in the ocular microbiome. A better understanding of how changes in both the gut and eye microbiome impact DED could allow for an improved understanding of DED pathophysiology and the development of new, effective treatment strategies.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"8 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-29","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140412559","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
R. Goyal, Kashish Wilson, Anjali Saharan, R. Gautam, Hitesh Chopra, Sumeet Gupta, Mohammad Amjad Kamal
{"title":"Insights on aspects of apoptosis in neurodegenerative disorders: a comprehensive review","authors":"R. Goyal, Kashish Wilson, Anjali Saharan, R. Gautam, Hitesh Chopra, Sumeet Gupta, Mohammad Amjad Kamal","doi":"10.37349/emed.2024.00208","DOIUrl":"https://doi.org/10.37349/emed.2024.00208","url":null,"abstract":"Nerve cell death is the central aspect of human neurodegenerative disorders. Neuronal death in results leads to the onset of various human neurological disorders such as Alzheimer’s disease, Parkinson’s disease, Huntington’s disease, amyotrophic lateral sclerosis, and stroke. In developing neurons, apoptosis is assumed to provide a counterbalance to overexuberant cell replication. Numerous signals may induce apoptosis in neurons, such as the absence of neurotrophic factor support, increased levels of metabolic and oxidative stress, and overstimulation of glutamate receptors (leading to the calcium influx). Cell death and neurological disorders have been related to oxidative stress, which creates an imbalance between antioxidant defenses and free radical production. In this paper, a summary of the engrossment of oxidative stress, neuronal apoptosis, and mitochondrial dysfunction in neurodegenerative disorders has been discussed. Antioxidant therapy’s potential assistance for neurodegenerative illnesses in human beings is still up for dispute, despite encouraging pre-clinical research findings. One elucidation for this disparity could be the non-existence of an accurate way to assess oxidative stress in the brain. The explosion in research on apoptosis in neurodegeneration has stemmed from the conception that persuading neuronal apoptotic death may be crucial to the progression of a disease and that anti-apoptotic approaches may be useful in the prevention of neurodegenerative processes. A deeper understanding of the role that apoptosis plays in neurodegenerative processes will serve as the foundation for future research into the development of focused, effective treatment modalities.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"22 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140419220","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Kaoutar Anouar Tadlaoui, M. Benhessou, A. Laraqui, Lina Benfdil, El Arbi Bouaiti, M. Mzibri, M. Ennaji
{"title":"Prevalence of specific human papillomavirus genotypes among Moroccan women with invasive cervical cancer","authors":"Kaoutar Anouar Tadlaoui, M. Benhessou, A. Laraqui, Lina Benfdil, El Arbi Bouaiti, M. Mzibri, M. Ennaji","doi":"10.37349/emed.2024.00207","DOIUrl":"https://doi.org/10.37349/emed.2024.00207","url":null,"abstract":"Aim:\u0000The aim of this study is to investigate the prevalence of human papillomavirus (HPV) genotypes in Moroccan women diagnosed with invasive cervical cancer and to assess the association between HPV infection and some socio-demographic characteristics and clinicopathological features.\u0000Methods:\u0000In this study, 80 fresh biopsies from patients with confirmed diagnoses of cervical cancer during the study period (2020–2021) were collected. All cases were subject to HPV detection by nested PCR using MY09/11 and GP5+/6+ primers. HPV genotyping was performed by type-specific PCR targeting HPV 6, 11, 16, 18, 31, and 33.\u0000Results:\u0000The average age of patients was 54 years. Most patients were diagnosed with squamous cell carcinoma (SCC; 82.5%) at stage II (71.3%). Overall, 91.3% of cervical cancer cases were HPV-positive. HPV 16 is the most prevalent genotype, reported in 60.3% of HPV-positive cases, followed by HPV 18, 33, and 31 genotypes, identified in 20.5%, 12.3%, and 6.8%, respectively. No double infection with these genotypes was observed. Statistical analysis showed a significant correlation between HPV infection and age at menarche (P = 0.028), parity (P = 0.004), childbirth delivery (P = 0.040), and marital status (P = 0.042).\u0000Conclusions:\u0000HPV-DNA was prevalent in most examined cervical cancer tissues and HPV 16, HPV 18, HPV 33, and HPV 31 were present, at single infection, in all HPV-positive cases. These results emphasize already reported data on HPV distribution in Morocco and may contribute significantly to promoting the use of HPV DNA-based screening tests and available vaccines to limit HPV infection, viral dissemination, and cancer cervical development.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"106 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140422383","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Nataliya Akimova, Y. Shvarts, Nadezhda D. Mikhel, A. R. Kiselev, T. Ledvanova, L. E. Konshina, O. V. Bugaeva
{"title":"The severity of chronic heart failure and the parameters of daily blood pressure profile in patients with coronary heart disease","authors":"Nataliya Akimova, Y. Shvarts, Nadezhda D. Mikhel, A. R. Kiselev, T. Ledvanova, L. E. Konshina, O. V. Bugaeva","doi":"10.37349/emed.2024.00209","DOIUrl":"https://doi.org/10.37349/emed.2024.00209","url":null,"abstract":"Aim: Although the prevalence of coronary heart disease (CHD) and hypertension which are the most common causes of the development and progression of chronic heart failure (CHF) is high, 24-hour ambulatory blood pressure (BP) monitoring (ABPM) in patients with CHF is not mandatory to be performed. The growing number of evidence suggests that excessive decrease in BP which clearly reflects increased BP variability (BPV) affects the survival of patients with heart failure (HF). The objective of the study was to investigate the relationship between the parameters specific to CHF severity and features of daily BP profiles in patients with ischemic CHF and hypertension. Methods: Ninety patients with functional class II–IV of CHF and CHD (the main group) and 50 non-CHF patients with hypertension (the comparative group) were examined. The transthoracic echocardiography (TTE) [atrial end-systolic dimension (ESD), ventricular end-diastolic dimension (EDD), left ventricular mass index (LVMI), and left ventricular ejection fraction (LVEF)] and 24-hour ABPM (BPV parameters and proportions of hypotensive episodes) were performed. The relationships between the abovementioned parameters were evaluated using the univariate correlation analysis and stepwise multiple linear regression. Results: Higher functional class of CHF is found to be associated with a higher incidence of daytime systolic BP (SBP) decline and nighttime SBP and diastolic BP (DBP) variability while higher LVEF is related to the hypotensive episodes regardless of CHF. Conclusions: It appears that the larger trials involving CHF patients with reduced LVEF should be conducted to clarify the obtained results.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"72 2","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"140418069","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Navigating breast health: a comprehensive approach to atypical ductal hyperplasia of the breast management and surveillance","authors":"Nadia Islam, Suneela Vegunta","doi":"10.37349/emed.2024.00205","DOIUrl":"https://doi.org/10.37349/emed.2024.00205","url":null,"abstract":"Atypical ductal hyperplasia (ADH) is a benign lesion of the breast that is associated with an increased risk of invasive breast cancer. This review explores the pathophysiology, risk factors for progression to breast cancer, and lifetime management for patients diagnosed with ADH on core needle biopsy (CNB). The management plan for patients diagnosed with ADH includes regular clinical surveillance, diagnostic mammography, along with risk-reduction strategies such as lifestyle modifications or the use of adjuvant endocrine therapies. This review aims to delve into the complexities of ADH from diagnosis to management to aid clinicians in finding the best way to approach this high-risk breast lesion.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"70 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139855870","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Navigating breast health: a comprehensive approach to atypical ductal hyperplasia of the breast management and surveillance","authors":"Nadia Islam, Suneela Vegunta","doi":"10.37349/emed.2024.00205","DOIUrl":"https://doi.org/10.37349/emed.2024.00205","url":null,"abstract":"Atypical ductal hyperplasia (ADH) is a benign lesion of the breast that is associated with an increased risk of invasive breast cancer. This review explores the pathophysiology, risk factors for progression to breast cancer, and lifetime management for patients diagnosed with ADH on core needle biopsy (CNB). The management plan for patients diagnosed with ADH includes regular clinical surveillance, diagnostic mammography, along with risk-reduction strategies such as lifestyle modifications or the use of adjuvant endocrine therapies. This review aims to delve into the complexities of ADH from diagnosis to management to aid clinicians in finding the best way to approach this high-risk breast lesion.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"11 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139795982","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cannabidiol, cognition and schizophrenia: a narrative review","authors":"Trevor R. Norman","doi":"10.37349/emed.2024.00204","DOIUrl":"https://doi.org/10.37349/emed.2024.00204","url":null,"abstract":"Schizophrenia is a serious mental disorder affecting about 1% of the population. It is characterised by multiple symptoms which are mostly responsive to treatment with antipsychotic medications. Cognitive impairment is regarded as a core feature of illness which is mostly poorly responsive to treatment with the current antipsychotic medications. Improving cognitive function is an important treatment goal as it is associated with better outcomes in employment and quality of life. Adjunctive pharmacological treatments have been examined to improve measures of cognition but with limited success. Cannabidiol (CBD), has shown promise in preclinical models of cognitive deficits of schizophrenia. On the other hand, limited studies in small groups of patients with schizophrenia have shown no significant clinical benefits for cognitive function as an adjunct to ongoing treatment with antipsychotics. A single trial, in which CBD as a standalone treatment was compared to the antipsychotic medication amisulpride, showed significant changes in cognitive measures for both agents, with no statistically significant difference between them. It might therefore be concluded that the preclinical findings have failed to translate to the clinic. However, the preclinical findings themselves are based on a circumscribed set of studies in multiple cognitive models and have used varying doses and routes of drug administration. The same general methodological issues are present in the suite of clinical studies. Issues such as patient heterogeneity in terms of illness duration, formulation and dose of CBD employed, and length of cannabinoid treatment might militate positive findings. The limited clinical database available makes the benefits (or lack thereof) of CBD for the cognitive effects of schizophrenia uncertain. Continued research in much larger patient populations than have so far been investigated as well as a consideration of dose ranging studies are required to fully assess the potential risks against the benefits of CBD treatment for cognitive deficits in schizophrenia.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"71 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139856408","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Cannabidiol, cognition and schizophrenia: a narrative review","authors":"Trevor R. Norman","doi":"10.37349/emed.2024.00204","DOIUrl":"https://doi.org/10.37349/emed.2024.00204","url":null,"abstract":"Schizophrenia is a serious mental disorder affecting about 1% of the population. It is characterised by multiple symptoms which are mostly responsive to treatment with antipsychotic medications. Cognitive impairment is regarded as a core feature of illness which is mostly poorly responsive to treatment with the current antipsychotic medications. Improving cognitive function is an important treatment goal as it is associated with better outcomes in employment and quality of life. Adjunctive pharmacological treatments have been examined to improve measures of cognition but with limited success. Cannabidiol (CBD), has shown promise in preclinical models of cognitive deficits of schizophrenia. On the other hand, limited studies in small groups of patients with schizophrenia have shown no significant clinical benefits for cognitive function as an adjunct to ongoing treatment with antipsychotics. A single trial, in which CBD as a standalone treatment was compared to the antipsychotic medication amisulpride, showed significant changes in cognitive measures for both agents, with no statistically significant difference between them. It might therefore be concluded that the preclinical findings have failed to translate to the clinic. However, the preclinical findings themselves are based on a circumscribed set of studies in multiple cognitive models and have used varying doses and routes of drug administration. The same general methodological issues are present in the suite of clinical studies. Issues such as patient heterogeneity in terms of illness duration, formulation and dose of CBD employed, and length of cannabinoid treatment might militate positive findings. The limited clinical database available makes the benefits (or lack thereof) of CBD for the cognitive effects of schizophrenia uncertain. Continued research in much larger patient populations than have so far been investigated as well as a consideration of dose ranging studies are required to fully assess the potential risks against the benefits of CBD treatment for cognitive deficits in schizophrenia.","PeriodicalId":507580,"journal":{"name":"Exploration of Medicine","volume":"360 13","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-07","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139796280","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}