V. Gardikioti, C. Georgakopoulos, E. Solomou, E. Lazarou, Konstantinos Fasoulakis, Dimitrios Terentes-Printzios, K. Tsioufis, Dimitrios Iliopoulos, C. Vlachopoulos
Background: The widespread use of fluoroquinolones has been associated with the formation, dissection, and rupture of aortic aneurysms. Arterial biomarkers are established predictors of cardiovascular events. The present study was designed to investigate the effect of quinolones on arterial stiffness and aortic size for the first time. Methods: We studied 28 subjects receiving short-term (<15 days) antibiotic therapy involving quinolones and 27 age- and sex-matched subjects receiving an alternative to quinolone antibiotics. The follow-up period was approximately 2 months. The study’s primary endpoint was the carotid–femoral pulse wave velocity (cfPWV) difference between the two groups 2 months after therapy initiation. Secondary endpoints were the augmentation index corrected for heart rate (AIx@75) and sonographically assessed aortic diameters 2 months after the initial treatment. Results: Subjects had similar values of arterial biomarkers, blood pressure measurements, and aortic diameters at baseline. At follow-up, no significant change was observed between the two groups regarding the hemodynamic parameters and arterial biomarkers (p > 0.05 for all), i.e., cfPWV (7.9 ± 2.6 m/s for the control group vs. 8.1 ± 2.4 m/s for the fluoroquinolones group; p = 0.79), AIx@75 (22.6 ± 9.0% for the control group vs. 26.6 ± 8.1% for the fluoroquinolones group; p = 0.09), and aortic diameters. Conclusions: To our knowledge, FRAGILES is the first study to provide insights into the possible effects of fluoroquinolones on arterial biomarkers, showing that, at least in the short term, treatment with fluoroquinolones does not affect aortic function and diameter.
{"title":"Effect of FluoRoquinolones on Aortic Growth, aortic stIffness and wave refLEctionS (FRAGILES study)","authors":"V. Gardikioti, C. Georgakopoulos, E. Solomou, E. Lazarou, Konstantinos Fasoulakis, Dimitrios Terentes-Printzios, K. Tsioufis, Dimitrios Iliopoulos, C. Vlachopoulos","doi":"10.3390/life14080992","DOIUrl":"https://doi.org/10.3390/life14080992","url":null,"abstract":"Background: The widespread use of fluoroquinolones has been associated with the formation, dissection, and rupture of aortic aneurysms. Arterial biomarkers are established predictors of cardiovascular events. The present study was designed to investigate the effect of quinolones on arterial stiffness and aortic size for the first time. Methods: We studied 28 subjects receiving short-term (<15 days) antibiotic therapy involving quinolones and 27 age- and sex-matched subjects receiving an alternative to quinolone antibiotics. The follow-up period was approximately 2 months. The study’s primary endpoint was the carotid–femoral pulse wave velocity (cfPWV) difference between the two groups 2 months after therapy initiation. Secondary endpoints were the augmentation index corrected for heart rate (AIx@75) and sonographically assessed aortic diameters 2 months after the initial treatment. Results: Subjects had similar values of arterial biomarkers, blood pressure measurements, and aortic diameters at baseline. At follow-up, no significant change was observed between the two groups regarding the hemodynamic parameters and arterial biomarkers (p > 0.05 for all), i.e., cfPWV (7.9 ± 2.6 m/s for the control group vs. 8.1 ± 2.4 m/s for the fluoroquinolones group; p = 0.79), AIx@75 (22.6 ± 9.0% for the control group vs. 26.6 ± 8.1% for the fluoroquinolones group; p = 0.09), and aortic diameters. Conclusions: To our knowledge, FRAGILES is the first study to provide insights into the possible effects of fluoroquinolones on arterial biomarkers, showing that, at least in the short term, treatment with fluoroquinolones does not affect aortic function and diameter.","PeriodicalId":18182,"journal":{"name":"Life","volume":"61 15","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141922600","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}
Marina Mattar, Florence Umutoni, Marwa A. Hassan, M. W. Wamburu, Reagan Turner, James S. Patton, Xin Chen, Wei Lei
Chemotherapy-induced peripheral neuropathy (CIPN) is a major long-lasting side effect of some chemotherapy drugs, which threatens cancer survival rate. CIPN mostly affects sensory neurons and occasionally motor neurons, causing numbness, tingling, discomfort, and burning pain in the upper and lower extremities. The pathophysiology of CIPN is not completely understood; however, it is believed that chemotherapies induce peripheral neuropathy via directly damaging mitochondria, impairing the function of ion channels, triggering immunological mechanisms, and disrupting microtubules. The treatment of CIPN is a medical challenge, and there are no approved pharmacological options. Currently, duloxetine and other antidepressants, antioxidant, anti-inflammatory, and ion-channel targeted therapies are commonly used in clinics to relieve the symptoms of CIPN. Several other types of drugs, such as cannabinoids, sigma−1 receptor antagonists, and nicotinamides ribose, are being evaluated in preclinical and clinical studies. This paper summarizes the information related to the physiology of CIPN and medicines that could be used for treating this condition.
{"title":"Chemotherapy-Induced Peripheral Neuropathy: A Recent Update on Pathophysiology and Treatment","authors":"Marina Mattar, Florence Umutoni, Marwa A. Hassan, M. W. Wamburu, Reagan Turner, James S. Patton, Xin Chen, Wei Lei","doi":"10.3390/life14080991","DOIUrl":"https://doi.org/10.3390/life14080991","url":null,"abstract":"Chemotherapy-induced peripheral neuropathy (CIPN) is a major long-lasting side effect of some chemotherapy drugs, which threatens cancer survival rate. CIPN mostly affects sensory neurons and occasionally motor neurons, causing numbness, tingling, discomfort, and burning pain in the upper and lower extremities. The pathophysiology of CIPN is not completely understood; however, it is believed that chemotherapies induce peripheral neuropathy via directly damaging mitochondria, impairing the function of ion channels, triggering immunological mechanisms, and disrupting microtubules. The treatment of CIPN is a medical challenge, and there are no approved pharmacological options. Currently, duloxetine and other antidepressants, antioxidant, anti-inflammatory, and ion-channel targeted therapies are commonly used in clinics to relieve the symptoms of CIPN. Several other types of drugs, such as cannabinoids, sigma−1 receptor antagonists, and nicotinamides ribose, are being evaluated in preclinical and clinical studies. This paper summarizes the information related to the physiology of CIPN and medicines that could be used for treating this condition.","PeriodicalId":18182,"journal":{"name":"Life","volume":"80 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141922193","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}
Monika Ecsedy, Dorottya Szabó, Zsuzsa Szilagyi, Zoltan Zsolt Nagy, Z. Récsán
Purpose: To evaluate prognostic factors for visual outcome in patients with diabetes who have undergone vitrectomy (PPV) for severe proliferative diabetic vitreoretinopathy (PDVR) in at least one eye in the past 15 years. Methods: Medical records of 132 eyes of 66 patients were analyzed (median age 52 years 21–80; patients with type 1/2 diabetes 40/26; median follow-up 38 months 9–125). Correlations between final favorable visual outcome defined as 0.5≤ best-corrected visual acuity (BCVA) and prognostic factors (age, sex, type and duration of diabetes, metabolic status, BCVA, diabetic retinopathy status, data of preoperative management, data of vitrectomy, and postoperative complications) were analyzed. Results: BCVA improved significantly in the entire study cohort (from median 0.05 min–max 0.001–1 to 0.32, 0.001–1, p < 0.001). Visual stabilization was achieved in the majority of patients, and good visual acuity (0.5 ≤ BCVA) was maintained in more than one-third of the eyes. Multivariable GEE statistics showed that in addition to the duration of diabetes and stable HbA1c values, only preoperative tractional macular detachment proved to be an independent significant predictor of visual outcome. Conclusions: Pars plana vitrectomy is a useful tool when performed early before tractional macular detachment. However, long-term visual stability can only be achieved with good metabolic control.
{"title":"Personalized Management of Patients with Proliferative Diabetic Vitreoretinopathy","authors":"Monika Ecsedy, Dorottya Szabó, Zsuzsa Szilagyi, Zoltan Zsolt Nagy, Z. Récsán","doi":"10.3390/life14080993","DOIUrl":"https://doi.org/10.3390/life14080993","url":null,"abstract":"Purpose: To evaluate prognostic factors for visual outcome in patients with diabetes who have undergone vitrectomy (PPV) for severe proliferative diabetic vitreoretinopathy (PDVR) in at least one eye in the past 15 years. Methods: Medical records of 132 eyes of 66 patients were analyzed (median age 52 years 21–80; patients with type 1/2 diabetes 40/26; median follow-up 38 months 9–125). Correlations between final favorable visual outcome defined as 0.5≤ best-corrected visual acuity (BCVA) and prognostic factors (age, sex, type and duration of diabetes, metabolic status, BCVA, diabetic retinopathy status, data of preoperative management, data of vitrectomy, and postoperative complications) were analyzed. Results: BCVA improved significantly in the entire study cohort (from median 0.05 min–max 0.001–1 to 0.32, 0.001–1, p < 0.001). Visual stabilization was achieved in the majority of patients, and good visual acuity (0.5 ≤ BCVA) was maintained in more than one-third of the eyes. Multivariable GEE statistics showed that in addition to the duration of diabetes and stable HbA1c values, only preoperative tractional macular detachment proved to be an independent significant predictor of visual outcome. Conclusions: Pars plana vitrectomy is a useful tool when performed early before tractional macular detachment. However, long-term visual stability can only be achieved with good metabolic control.","PeriodicalId":18182,"journal":{"name":"Life","volume":"8 14","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141921647","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}
Alessia Bertolino, Silvia Bertolo, Paola Lago, P. Midrio
Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, regress and to become barely detectable during the third trimester. Little is known about cases of affected neonates born prematurely: only six cases are described in the literature, recording different conduct and outcomes. Herein, we report the case of a very low birth weight infant born at GW 28 without antenatal findings and presenting at birth with severe respiratory distress, requiring ventilation. Chest X-rays and a CT scan showed the presence of a solid mass in the left lung. An initial conservative approach was adopted as the baby gained respiratory stability within the first days of life. Routine ultrasound (US) showed a progressive reduction of the lesion, mimicking the process of involution that CPAM can exhibit during late gestation. The rarity of the condition does not allow the formulation of any suggestions regarding one type of management over the other. An initial conservative approach seems to be appropriate with regards to the outcome and possible intra- and post-operative complications.
{"title":"Congenital Pulmonary Airway Malformation in Preterm Infants: A Case Report and Review of the Literature","authors":"Alessia Bertolino, Silvia Bertolo, Paola Lago, P. Midrio","doi":"10.3390/life14080990","DOIUrl":"https://doi.org/10.3390/life14080990","url":null,"abstract":"Congenital pulmonary airway malformations (CPAMs) represent a well-known cluster of rare lung malformations affecting 1 in 2500 live births. The natural history of many CPAMs is to increase their size in the second trimester, reach a plateau, and, in about 50% of cases, regress and to become barely detectable during the third trimester. Little is known about cases of affected neonates born prematurely: only six cases are described in the literature, recording different conduct and outcomes. Herein, we report the case of a very low birth weight infant born at GW 28 without antenatal findings and presenting at birth with severe respiratory distress, requiring ventilation. Chest X-rays and a CT scan showed the presence of a solid mass in the left lung. An initial conservative approach was adopted as the baby gained respiratory stability within the first days of life. Routine ultrasound (US) showed a progressive reduction of the lesion, mimicking the process of involution that CPAM can exhibit during late gestation. The rarity of the condition does not allow the formulation of any suggestions regarding one type of management over the other. An initial conservative approach seems to be appropriate with regards to the outcome and possible intra- and post-operative complications.","PeriodicalId":18182,"journal":{"name":"Life","volume":"78 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-09","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141922119","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}
Background: The objective of this study is to assess the electronic health records (EHRs), which are potential risk factors for acute kidney injury (AKI) after allogenic hematopoietic cell transplantation (allo-HCT), and to propose a basic dataset and score for the calculation of HCT-acute kidney injury risk (HCT-AKIR). Methods: We undertook a retrospective analysis of the EHRs of 312 patients. Pre- and post-transplant factors were assessed, recognizing the following structured entries: laboratory data, encounters, medication, imaging studies, diagnoses, and procedures. Composite variables were used to create patient groups by combining two or more multivariate significant risk factors for AKI. The EHRs dataset and HCT-AKIR score were created based on the multivariate analysis of the composite variables. Results: A multivariate analysis showed that previous CKD and once-impaired pre-transplant kidney function, sepsis, imaging procedures with contrast media, and cumulative length of intensive care unit stay after transplantation were significant risk factors. A new unit-weighted composite score based on the combination of significant risk factors contained in common EHR resources was proposed. Conclusions: Using our novel HCT-AKIR score calculated from the basic EHR dataset could be an easy way to increase awareness of post-transplant AKI and provide risk stratification.
研究背景本研究旨在评估作为异基因造血细胞移植(allo-HCT)后急性肾损伤(AKI)潜在风险因素的电子健康记录(EHR),并提出用于计算 HCT-急性肾损伤风险(HCT-AKIR)的基本数据集和评分。方法我们对 312 名患者的电子病历进行了回顾性分析。评估了移植前和移植后的因素,确认了以下结构化条目:实验室数据、会诊、用药、影像学检查、诊断和手术。通过结合两个或两个以上导致 AKI 的多变量重要风险因素,使用复合变量创建患者组。EHRs 数据集和 HCT-AKIR 评分是根据对复合变量的多变量分析创建的。结果多变量分析显示,既往患有慢性肾功能衰竭(CKD)和移植前肾功能一度受损、脓毒症、使用造影剂的成像手术以及移植后重症监护室累计住院时间都是重要的风险因素。根据常见电子病历资源中包含的重要风险因素的组合,提出了一个新的单位加权综合评分。结论:使用我们从基本电子病历数据集中计算出的新型 HCT-AKIR 评分可以轻松提高人们对移植后 AKI 的认识,并提供风险分层。
{"title":"Leveraging Electronic Health Records to Predict the Risk of Acute Kidney Injury after Allogeneic Hematopoietic Cell Transplantation","authors":"E. Bischoff, Nikola Kirilov","doi":"10.3390/life14080987","DOIUrl":"https://doi.org/10.3390/life14080987","url":null,"abstract":"Background: The objective of this study is to assess the electronic health records (EHRs), which are potential risk factors for acute kidney injury (AKI) after allogenic hematopoietic cell transplantation (allo-HCT), and to propose a basic dataset and score for the calculation of HCT-acute kidney injury risk (HCT-AKIR). Methods: We undertook a retrospective analysis of the EHRs of 312 patients. Pre- and post-transplant factors were assessed, recognizing the following structured entries: laboratory data, encounters, medication, imaging studies, diagnoses, and procedures. Composite variables were used to create patient groups by combining two or more multivariate significant risk factors for AKI. The EHRs dataset and HCT-AKIR score were created based on the multivariate analysis of the composite variables. Results: A multivariate analysis showed that previous CKD and once-impaired pre-transplant kidney function, sepsis, imaging procedures with contrast media, and cumulative length of intensive care unit stay after transplantation were significant risk factors. A new unit-weighted composite score based on the combination of significant risk factors contained in common EHR resources was proposed. Conclusions: Using our novel HCT-AKIR score calculated from the basic EHR dataset could be an easy way to increase awareness of post-transplant AKI and provide risk stratification.","PeriodicalId":18182,"journal":{"name":"Life","volume":"37 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141927301","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}
Drought stress is a critical environmental factor that significantly impacts plant growth and productivity. However, the transcriptome analysis of differentially expressed genes in response to drought stress in Camellia oleifera Abel. is still unclear. This study analyzed the transcriptome sequencing data of C. oleifera under drought treatments. A total of 20,674 differentially expressed genes (DEGs) were identified under drought stress, with the number of DEGs increasing with the duration of drought. Specifically, 11,793 and 18,046 DEGs were detected after 8 and 15 days of drought treatment, respectively, including numerous upregulated and downregulated genes. Gene Ontology (GO) enrichment analysis showed that the DEGs were primarily involved in various biological processes. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis revealed that carbon metabolism, glyoxylate and dicarboxylate metabolism, proteasome, glycine, serine, and threonine metabolism were the main affected pathways. Among the DEGs, 376 protein kinases, 42 proteases, 168 transcription factor (TF) genes, and 152 other potential functional genes were identified, which may play significant roles in the drought response of C. oleifera. The expression of relevant functional genes was further validated using quantitative real-time PCR (qRT-PCR). These findings contribute to the comprehension of drought tolerance mechanisms in C. oleifera and bolster the identification of drought-resistant genes for molecular breeding purposes.
{"title":"Cataloging the Genetic Response: Unveiling Drought-Responsive Gene Expression in Oil Tea Camellia (Camellia oleifera Abel.) through Transcriptomics","authors":"Zhen Zhang, Yanming Xu, Caixia Liu, Longsheng Chen, Ying Zhang, Zhilong He, Rui Wang, Chengfeng Xun, Yushen Ma, Xiaokang Yuan, Xiang-nan Wang, Yongzhong Chen, Xiaohu Yang","doi":"10.3390/life14080989","DOIUrl":"https://doi.org/10.3390/life14080989","url":null,"abstract":"Drought stress is a critical environmental factor that significantly impacts plant growth and productivity. However, the transcriptome analysis of differentially expressed genes in response to drought stress in Camellia oleifera Abel. is still unclear. This study analyzed the transcriptome sequencing data of C. oleifera under drought treatments. A total of 20,674 differentially expressed genes (DEGs) were identified under drought stress, with the number of DEGs increasing with the duration of drought. Specifically, 11,793 and 18,046 DEGs were detected after 8 and 15 days of drought treatment, respectively, including numerous upregulated and downregulated genes. Gene Ontology (GO) enrichment analysis showed that the DEGs were primarily involved in various biological processes. Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment analysis revealed that carbon metabolism, glyoxylate and dicarboxylate metabolism, proteasome, glycine, serine, and threonine metabolism were the main affected pathways. Among the DEGs, 376 protein kinases, 42 proteases, 168 transcription factor (TF) genes, and 152 other potential functional genes were identified, which may play significant roles in the drought response of C. oleifera. The expression of relevant functional genes was further validated using quantitative real-time PCR (qRT-PCR). These findings contribute to the comprehension of drought tolerance mechanisms in C. oleifera and bolster the identification of drought-resistant genes for molecular breeding purposes.","PeriodicalId":18182,"journal":{"name":"Life","volume":"16 11","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-08-08","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141927694","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}
Heynes Brown, Anil Fastenau, Srilekha Penna, Paul Saunderson, Gonnie Klabbers
(1) Background: The global burden of leprosy is not shared equally; with the majority of cases being diagnosed in Brazil, India, and Indonesia. Understanding the methods of active case detection (ACD) used in high and low endemic regions is vital for the development of future screening programs. (2) Methods: A systematic search of three databases, PubMed, Embase and Web of Science, was conducted for English language papers, published since the year 2000, which discussed the use of active case detection methods for leprosy screening. The paper utilised the Integrated Screening Action Model (I-SAM) as a tool for the analysis of these methods. (3) Results: 23 papers were identified from 11 different countries. The papers identified 6 different methods of active case detection: Household contact/social contact identification; door-to-door case detection; screening questionnaire distribution; rapid village surveys; school-based screening; and prison-based screening. 15 were located in high endemic regions and 8 of these were located in low endemic regions. (4) Conclusions: For selecting the appropriate methods of active case finding, the leprosy endemicity must be taken into consideration. The findings contribute to policy decision making allowing for more successful future leprosy case detection programs to be designed, ultimately reducing the global burden of the disease, and achieving the WHO’s aim of zero leprosy.
{"title":"Exploring Active Case Detection Approaches for Leprosy Diagnosis in Varied Endemic Settings: A Comprehensive Scoping Review","authors":"Heynes Brown, Anil Fastenau, Srilekha Penna, Paul Saunderson, Gonnie Klabbers","doi":"10.3390/life14080937","DOIUrl":"https://doi.org/10.3390/life14080937","url":null,"abstract":"(1) Background: The global burden of leprosy is not shared equally; with the majority of cases being diagnosed in Brazil, India, and Indonesia. Understanding the methods of active case detection (ACD) used in high and low endemic regions is vital for the development of future screening programs. (2) Methods: A systematic search of three databases, PubMed, Embase and Web of Science, was conducted for English language papers, published since the year 2000, which discussed the use of active case detection methods for leprosy screening. The paper utilised the Integrated Screening Action Model (I-SAM) as a tool for the analysis of these methods. (3) Results: 23 papers were identified from 11 different countries. The papers identified 6 different methods of active case detection: Household contact/social contact identification; door-to-door case detection; screening questionnaire distribution; rapid village surveys; school-based screening; and prison-based screening. 15 were located in high endemic regions and 8 of these were located in low endemic regions. (4) Conclusions: For selecting the appropriate methods of active case finding, the leprosy endemicity must be taken into consideration. The findings contribute to policy decision making allowing for more successful future leprosy case detection programs to be designed, ultimately reducing the global burden of the disease, and achieving the WHO’s aim of zero leprosy.","PeriodicalId":18182,"journal":{"name":"Life","volume":"29 47","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141800676","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}
Jihyun Lee, Ja-Eun Choi, Joohun Ha, Young-Joo Kim, Changhyun Lee, Kyung-Won Hong
Studies on androgenetic alopecia (AGA or patterned hair loss (PHL)) have suggested different underlying pathological mechanisms between males and females. While many genetic factors for male hair loss have been identified through genome-wide association studies (GWASs), the genetic determinants of female hair loss remain unclear. In this study, we analyzed approximately 1000 individuals (436 males and 568 females) to identify sex-specific genetic factors. We conducted three independent GWASs for the total, male-only, and female-only groups, identifying three novel loci (rs7814359, rs2163085, and rs4793158 of the TSNARE1, FZD1, and GJC1 genes, respectively). rs7814359 showed a significant genome-wide association with AGA in the combined sex group and a weak association in both the male-only and female-only groups. The single nucleotide polymorphism (SNP) rs2163085 showed a significant genome-wide association with AGA in the combined group and notable significance in females. The rs4793158 SNP showed a suggestive association with AGA in both the combined and female-only groups. TSNARE1, related to rs7814359, is involved in vesicle transport. FZD1 is a key regulator of the Wnt signaling pathway. GJC1 is a gap junction protein. The associations of FZD1 and GJC1 with female-specific AGA suggest that sex hormones, such as estrogen, may influence FPHL through these genes. These findings will contribute to our understanding of the sex-specific pathophysiology of AGA.
有关雄激素性脱发(AGA 或模式性脱发)的研究表明,男性和女性的潜在病理机制不同。虽然通过全基因组关联研究(GWAS)发现了许多男性脱发的遗传因素,但女性脱发的遗传决定因素仍不清楚。在这项研究中,我们分析了约 1000 人(436 名男性和 568 名女性),以确定性别特异性遗传因素。我们对总性别组、纯男性组和纯女性组进行了三次独立的 GWAS,发现了三个新的基因位点(分别是 TSNARE1、FZD1 和 GJC1 基因的 rs7814359、rs2163085 和 rs4793158)。单核苷酸多态性(SNP)rs2163085 在男女混合组显示出与 AGA 的全基因组显著相关性,而在女性组则显示出显著相关性。rs4793158 SNP 在合并组和仅女性组中都显示出与 AGA 的提示性关联。与 rs7814359 相关的 TSNARE1 参与囊泡运输。FZD1 是 Wnt 信号通路的关键调节因子。GJC1 是一种缝隙连接蛋白。FZD1 和 GJC1 与女性特异性 AGA 的关联表明,雌激素等性激素可能会通过这些基因影响 FPHL。这些发现将有助于我们了解AGA的性别特异性病理生理学。
{"title":"Genetic Differences between Male and Female Pattern Hair Loss in a Korean Population","authors":"Jihyun Lee, Ja-Eun Choi, Joohun Ha, Young-Joo Kim, Changhyun Lee, Kyung-Won Hong","doi":"10.3390/life14080939","DOIUrl":"https://doi.org/10.3390/life14080939","url":null,"abstract":"Studies on androgenetic alopecia (AGA or patterned hair loss (PHL)) have suggested different underlying pathological mechanisms between males and females. While many genetic factors for male hair loss have been identified through genome-wide association studies (GWASs), the genetic determinants of female hair loss remain unclear. In this study, we analyzed approximately 1000 individuals (436 males and 568 females) to identify sex-specific genetic factors. We conducted three independent GWASs for the total, male-only, and female-only groups, identifying three novel loci (rs7814359, rs2163085, and rs4793158 of the TSNARE1, FZD1, and GJC1 genes, respectively). rs7814359 showed a significant genome-wide association with AGA in the combined sex group and a weak association in both the male-only and female-only groups. The single nucleotide polymorphism (SNP) rs2163085 showed a significant genome-wide association with AGA in the combined group and notable significance in females. The rs4793158 SNP showed a suggestive association with AGA in both the combined and female-only groups. TSNARE1, related to rs7814359, is involved in vesicle transport. FZD1 is a key regulator of the Wnt signaling pathway. GJC1 is a gap junction protein. The associations of FZD1 and GJC1 with female-specific AGA suggest that sex hormones, such as estrogen, may influence FPHL through these genes. These findings will contribute to our understanding of the sex-specific pathophysiology of AGA.","PeriodicalId":18182,"journal":{"name":"Life","volume":"24 3","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-26","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141801364","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}
A. Grigorescu, Andrei Anghel, Claudia Koch, F. Horhat, Delia Savescu, H. Feier
Aortic stenosis (AS) is a prevalent valvular disorder that poses a significant burden on healthcare systems due to its debilitating symptoms and high mortality rates if left untreated. Surgical aortic valve replacement (SAVR) and transcatheter aortic valve replacement (TAVR) are the primary interventions for severe AS, but perioperative complications such as bleeding remain a concern. Von Willebrand factor (VWF), a crucial player in hemostasis, is known to be altered in AS and may contribute to the hemostatic imbalance observed in these patients. This prospective study aimed to investigate the association between prosthetic valve type, size, and postprocedural VWF levels in patients undergoing aortic valve replacement (AVR) for severe AS. This study involved 39 consecutive patients diagnosed with severe AS who underwent SAVR or TAVR. By elucidating the VWF dynamics associated with different prosthetic valves, this study sought to provide valuable insights into personalized valve selection and perioperative management strategies.
{"title":"Von Willebrand Factor Dynamics in Patients with Aortic Stenosis Undergoing Surgical and Transcatheter Valve Replacement","authors":"A. Grigorescu, Andrei Anghel, Claudia Koch, F. Horhat, Delia Savescu, H. Feier","doi":"10.3390/life14080934","DOIUrl":"https://doi.org/10.3390/life14080934","url":null,"abstract":"Aortic stenosis (AS) is a prevalent valvular disorder that poses a significant burden on healthcare systems due to its debilitating symptoms and high mortality rates if left untreated. Surgical aortic valve replacement (SAVR) and transcatheter aortic valve replacement (TAVR) are the primary interventions for severe AS, but perioperative complications such as bleeding remain a concern. Von Willebrand factor (VWF), a crucial player in hemostasis, is known to be altered in AS and may contribute to the hemostatic imbalance observed in these patients. This prospective study aimed to investigate the association between prosthetic valve type, size, and postprocedural VWF levels in patients undergoing aortic valve replacement (AVR) for severe AS. This study involved 39 consecutive patients diagnosed with severe AS who underwent SAVR or TAVR. By elucidating the VWF dynamics associated with different prosthetic valves, this study sought to provide valuable insights into personalized valve selection and perioperative management strategies.","PeriodicalId":18182,"journal":{"name":"Life","volume":"31 7","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141806354","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}
Jakob Fehlhofer, Jutta Ries, F. Nickel, V. Rothhammer, Stefan Schwab, Marco Kesting, M. Buchbender
References [...]
参考资料 [...]
{"title":"Correction: Fehlhofer et al. Expression of Inflammatory Mediators in Biofilm Samples and Clinical Association in Multiple Sclerosis Patients in Remission—A Pilot Study. Life 2024, 14, 367","authors":"Jakob Fehlhofer, Jutta Ries, F. Nickel, V. Rothhammer, Stefan Schwab, Marco Kesting, M. Buchbender","doi":"10.3390/life14080932","DOIUrl":"https://doi.org/10.3390/life14080932","url":null,"abstract":"References [...]","PeriodicalId":18182,"journal":{"name":"Life","volume":"39 21","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-07-25","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"141805889","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}