{"title":"Donor-derived cell-free DNA as a diagnostic marker for kidney-allograft rejection: a systematic review and meta-analysis-testni naslov","authors":"Yanbo Xing, Qiang Guo, Cong Wang, Haoying Shi, Jiarui Zheng, Yijun Jia, Chengyong Li, Chuan Hao","doi":"10.17305/bb.2024.10049","DOIUrl":"https://doi.org/10.17305/bb.2024.10049","url":null,"abstract":"Testni abstrakt - Donor-derived cell-free DNA (dd-cfDNA) is a promising biomarker for the detection of graft rejection. We evaluated the accuracy and clinical value of applying it to kidney transplant rejection. Relevant literature on dd-cfDNA diagnosis of kidney transplant rejection was searched in PubMed, Embase, Cochrane Library, and Web of Science databases from the time of construction to 2023. Data and study characteristics were extracted independently by two researchers, and disagreements were resolved by negotiation. We merged diagnostic accuracy data distinguishing major rejection (MRE) and antibody-mediated rejection (AMR) separately. Potential heterogeneity was analyzed by subgroup analysis or meta-regression. Funnel plots were used to clarify the presence or absence of publication bias. A total of 17 publications provided data on the accuracy of dd-cfDNA in diagnosing patients with MRE. The pooled sensitivity, specificity, and the area under the receiver operating characteristic curve with 95% confidence intervals (CI) were 0.60 (95% CI, 0.51-0.69), 0.85 (95% CI, 0.81-0.89), and 0.83 (95% CI, 0.79-0.86), respectively. Additionally, 12 studies focused on the diagnostic efficacy of dd-cfDNA for ABMR, showing pooled sensitivity, specificity, and the area under the receiver operating characteristic curve with 95% CI of 0.81 (95% CI, 0.72–0.88), 0.80 (95% CI, 0.73–0.86), and 0.87 (95% CI, 0.84-0.90), respectively. The type of study, age group, and sample size were responsible for the heterogeneity. In summary, Due to significant heterogeneity, the accuracy of Dd-cfDNA in diagnosing patients with MRE is not very reliable. However, Dd-cfDNA can serve as a biomarker for diagnosing ABMR.","PeriodicalId":504577,"journal":{"name":"Biomolecules and Biomedicine","volume":"1 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-15","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139774571","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}
Edin Hamzic, Lemana Spahić, Nirvana Pistoljevic, Eldin Dzanko, Sanela Pasic, Lejla Kadric, F. Serdarevic, A. Hajdarpasic
{"title":"Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing","authors":"Edin Hamzic, Lemana Spahić, Nirvana Pistoljevic, Eldin Dzanko, Sanela Pasic, Lejla Kadric, F. Serdarevic, A. Hajdarpasic","doi":"10.17305/bb.2024.10221","DOIUrl":"https://doi.org/10.17305/bb.2024.10221","url":null,"abstract":"Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through “EDUS-Education for All”, an organization providing services for children with developmental disorders in Bosnia and Herzegovina. We further rated children's autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) NGS sequencing apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.","PeriodicalId":504577,"journal":{"name":"Biomolecules and Biomedicine","volume":"5 19","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139801547","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}
Edin Hamzic, Lemana Spahić, Nirvana Pistoljevic, Eldin Dzanko, Sanela Pasic, Lejla Kadric, F. Serdarevic, A. Hajdarpasic
{"title":"Exploratory genetic analysis in children with autism spectrum disorder and other developmental disorders using whole exome sequencing","authors":"Edin Hamzic, Lemana Spahić, Nirvana Pistoljevic, Eldin Dzanko, Sanela Pasic, Lejla Kadric, F. Serdarevic, A. Hajdarpasic","doi":"10.17305/bb.2024.10221","DOIUrl":"https://doi.org/10.17305/bb.2024.10221","url":null,"abstract":"Developmental disorders (DDs), such as autism spectrum disorder (ASD), incorporate various conditions; once identified, further diagnostics are necessary to specify their type and severity. The aim of this exploratory study was to identify genetic variants that can help differentiate ASD early from other DDs. We selected 36 children (mean age 60.1 months) with DDs using Developmental Behavioral Scales (DBS) through “EDUS-Education for All”, an organization providing services for children with developmental disorders in Bosnia and Herzegovina. We further rated children's autistic traits with the preschool version of the Childhood Autism Rating Scale, second edition (CARS-II). We defined ASD if scores were >25.5 and other DDs if scores were <25.5. Diagnosis of ASD and DD were independently confirmed by child psychiatrists. Whole exome sequencing was performed by Veritas Genetics, USA, using Illumina NovaSeq 6000 (Illumina Inc., San Diego, CA, USA) NGS sequencing apparatus. We tested genetic association by applying SKAT-O, which optimally combines the standard Sequence Kernel Association Test (SKAT) and burden tests to identify rare variants associated with complex traits in samples of limited power. The analysis yielded seven genes (DSE, COL10A1, DLK2, CSMD1, FAM47E, PPIA, PYDC2) to potentially differentiate observed phenotypic characteristics between our cohort participants with ASD and other DDs. Our exploratory study in a small sample of participants with ASD and other DDs contributed to gene discovery in differentiating ASD from DDs. A replication study is needed in a larger sample to confirm our results.","PeriodicalId":504577,"journal":{"name":"Biomolecules and Biomedicine","volume":"154 1-4","pages":""},"PeriodicalIF":0.0,"publicationDate":"2024-02-06","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139861513","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}
Lama Abujamous, Abderrezzaq Soltani, Hamda A. Al-Thawadi, Abdelali Agouni
{"title":"Advances in nanotechnology-enabled drug delivery for combining PARP inhibitors and immunotherapy in advanced ovarian cancer","authors":"Lama Abujamous, Abderrezzaq Soltani, Hamda A. Al-Thawadi, Abdelali Agouni","doi":"10.17305/bb.2023.9757","DOIUrl":"https://doi.org/10.17305/bb.2023.9757","url":null,"abstract":"Advanced ovarian cancer is a malignancy that spreads beyond the ovaries to the pelvis, abdomen, lungs, or lymph nodes. Effective treatment options are available to improve survival rates in patients with advanced ovarian cancer. These include radiation, surgery, chemotherapy, immunotherapy, and targeted therapy. Drug resistance, however, remains a significant challenge in pharmacotherapeutic interventions, leading to reduced efficacy and unfavorable patient outcomes. Combination therapy, which involves using multiple drugs with different mechanisms of action at their optimal dose, is a promising approach to circumvent this challenge and it involves using multiple drugs with different mechanisms of action at their optimal dose. In recent years, nanotechnology has emerged as a valuable alternative for enhancing drug delivery precision and minimize toxicity. Nanoparticles can deliver drugs to specific cancer cells, resulting in higher drug concentrations at the tumor site, and reducing overall drug toxicity. Nanotechnology-based drug delivery systems have the potential to improve the therapeutic effects of anti-cancer drugs, reduce drug resistance, and improve outcomes for patients with advanced ovarian cancer. This literature review aims to examine the current understanding of combining Poly (ADP-ribose) polymerase (PARP) inhibitors and immunotherapy in treating advanced ovarian cancer and the potential impact of nanotechnology on drug delivery.","PeriodicalId":504577,"journal":{"name":"Biomolecules and Biomedicine","volume":"80 1","pages":""},"PeriodicalIF":0.0,"publicationDate":"2023-11-23","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"139245770","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}