Review
Multidisciplinary Sciences
Imran Ali Khan
Summary: Neonatal diabetes mellitus (NDM) is a rare genetic disease caused by mutations in the KCNJ11 and ABCC8 genes. First-generation sequencing techniques like Sanger sequencing have limitations, leading to the adoption of second-generation techniques like NGS, which sequences nucleic acids more rapidly and economically. Second-generation techniques are recommended for future studies to identify genetic variations in NDM children.
Review
Biochemistry & Molecular Biology
Natsuko Aida, Akiko Saito, Toshifumi Azuma
Summary: The development of next-generation sequencing (NGS) has greatly improved the speed and capacity of genetic analysis, expanding its applications to include genome, epigenome, metagenome, and transcriptome analyses. Bone tissue, as a crucial unit supporting the body, is susceptible to genetic diseases. The relationship between age-related bone fragility and genetic factors has recently gained attention.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Biochemistry & Molecular Biology
Lei Zhao, Rasmus Nielsen, Thorfinn Sand Korneliussen
Summary: Commonly used methods for inferring phylogenies are not well-suited for handling challenges associated with noisy, diploid sequencing data. To address this problem, we introduce two new probabilistic approaches, distAngsd-geno and distAngsd-nuc, that account for uncertainty in genotype calling and are specifically designed for next-generation sequencing data.
MOLECULAR BIOLOGY AND EVOLUTION
(2022)
Article
Biochemistry & Molecular Biology
Valerio Benedetti, Rosalia Canzoneri, Andrea Perrelli, Carlo Arduino, Andrea Zonta, Alfredo Brusco, Saverio Francesco Retta
Summary: Cerebral Cavernous Malformation (CCM) is a genetic cerebrovascular disease that can cause seizures, neurological deficits, and fatal intracerebral hemorrhage. It is associated with loss-of-function mutations in three genes and may have additional genetic modifiers. A study in Italy identified pathogenic variants in CCM genes in 29% of CCM cases, as well as variants in other genes related to oxidative stress and inflammation.
Article
Biochemical Research Methods
Dongjia Chen, Xiaoting Shen, Yan Xu, Bing Cai, Chenhui Ding, Yiping Zhong, Yanwen Xu, Canquan Zhou
Summary: Neurofibroma type 1 (NFI) is a genetic disease associated with cancer and cognitive dysfunction, posing challenges to preimplantation genetic testing (PGT) due to its 50% de novo mutation rate and numerous mutation types of the NF1 gene. A couple underwent next-generation sequencing (NGS)-based PGT, with biopsied trophectoderm samples undergoing whole-genome amplification and NGS to detect NF1 mutations and SNP analysis. A successful outcome resulted in obtaining unaffected and euploid blastocysts for transfer in a frozen-thawed embryo transfer (FET) cycle.
Article
Biochemistry & Molecular Biology
Karolina Siewiera, Magdalena Labieniec-Watala, Hassan Kassassir, Nina Wolska, Dawid Polak, Cezary Watala
Summary: The study found that prolonged exposure of blood platelets to high concentrations of glucose in diabetes can lead to increased mitochondrial respiration, but this is not the main reason for abnormal platelet functioning. Additionally, metformin was not able to inhibit platelet activation under in vitro conditions, indicating that its beneficial effect on the coagulation system in vivo may be related to other mechanisms.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Review
Endocrinology & Metabolism
Yumeng Tian, Ping Li
Summary: This article reviews the research progress in the use of genetic risk score (GRS) in diabetes mellitus in recent years and discusses future prospects.
FRONTIERS IN ENDOCRINOLOGY
(2022)
Article
Oncology
Xiaonan Wu, Jun Zhao, Ling Yang, Xin Nie, Zheng Wang, Ping Zhang, Chao Li, Xueqing Hu, Min Tang, Yuting Yi, Xinhua Du, Xuefeng Xia, Yanfang Guan, Zicheng Yu, Wenguang Gu, Xiangming Quan, Lin Li, Hong Shi
Summary: This study reveals the differences in somatic genetic mutations and tumor mutation burden between young and aged lung adenocarcinoma (LUAD) patients, which may provide directions for targeted therapy and advantages of immunotherapy for the elderly in the future.
Review
Biochemistry & Molecular Biology
Esmat Karimi, Fatemeh Mahmoudian, Saul O. Lugo Reyes, Umair Ahmed Bargir, Manisha Madkaikar, Hasibe Artac, Araz Sabzevari, Na Lu, Gholamreza Azizi, Hassan Abolhassani
Summary: Patients with inborn errors of immunity (IEI) exhibit diverse clinical and immunological phenotypes, emphasizing the importance of accurate molecular diagnosis. Next generation sequencing has facilitated genetic examinations for rare inherited disorders, allowing a suitable molecular diagnosis for IEI patients. An efficient stepwise approach to molecular diagnosis of inborn errors of immunity has been suggested in light of current findings in the field.
MOLECULAR IMMUNOLOGY
(2021)
Article
Biochemistry & Molecular Biology
Claudia Maria Hattinger, Chiara Casotti, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Katia Scotlandi, Toni Ibrahim, Massimo Serra
Summary: This study investigated the relationship between SNPs and CDDP resistance in high-grade osteosarcoma cells, providing a basis for further research on the topic.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2022)
Article
Plant Sciences
A. C. Polaiah, Parthvee R. Damor, R. N. Reddy, P. Manivel, K. T. Shivakumara, Manish K. Suthar, V. Thondaiman, G. N. Manjesh, K. H. Bindu, Jitendra Kumar
Summary: This study isolated DNA from Gymnema sylvestre leaves and used SSR analysis to design novel genetic markers for genetic diversity analysis. Two highly efficient polymorphic markers were identified, which can be used in molecular breeding programs.
JOURNAL OF APPLIED RESEARCH ON MEDICINAL AND AROMATIC PLANTS
(2023)
Article
Genetics & Heredity
Sharon A. Savage, Kristine Jones, Kedest Teshome, Adriana Lori, Lisa J. McReynolds, Marena R. Niewisch
Summary: This study identified a limitation of Next-generation sequencing (NGS) in sequencing through homopolymers. Additionally, a polymorphic site in the WRAP53 gene was reported, and it was recommended that all variants in regions of the genome with homopolymers be validated by Sanger sequencing before clinical action.
Review
Urology & Nephrology
Jiahui Zhang, Changming Zhang, Erzhi Gao, Qing Zhou
Summary: Recent advances in genomics have revealed the complexity of Mendelian disorders, highlighting allelic heterogeneity, locus heterogeneity, reduced penetrance, variable expressivity, modifier genes, and/or environmental factors. Precision medicine in clinical nephrology can improve the clinical diagnostic rate and treatment efficiency of kidney diseases, requiring nephrologists to have a good understanding of genetics.
Article
Genetics & Heredity
Dongjia Chen, Yan Xu, Yu Fu, Yali Wang, Yuliang Liu, Chenhui Ding, Bing Cai, Jiafu Pan, Jing Wang, Rong Li, Jing Guo, Han Zhang, Yanhong Zeng, Xiaoting Shen, Canquan Zhou
Summary: This study evaluated the effectiveness of next generation sequencing (NGS)-based preimplantation genetic testing (PGT) for germline mosaicism. The NGS-SNP method successfully achieved PGT for two families with germline mosaicism. Compared with PCR methods, NGS-SNP method showed higher diagnostic accuracy.
ORPHANET JOURNAL OF RARE DISEASES
(2023)
Article
Pharmacology & Pharmacy
Chiara Casotti, Claudia Maria Hattinger, Maria Pia Patrizio, Silvia Luppi, Leonardo Fantoni, Michela Pasello, Katia Scotlandi, Toni Ibrahim, Massimo Serra
Summary: In this study, an innovative mmNGS approach was used to investigate SNPs associated with MTX resistance in HGOS cell lines. The results showed that allele changes in TP53, SLC19A1, and MTHFR were functionally involved in the development of MTX resistance. In addition, a fusion transcript of DHFR and MSH3 was identified in the cells with the highest MTX resistance level.
FRONTIERS IN PHARMACOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Krzysztof Milewski, Pawel Balsam, Mateusz Kachel, Bronislaw Sitek, Aleksandra Kolarczyk-Haczyk, Szymon Skoczynski, Piotr Hirnle, Monika Gawalko, Lukasz Koltowski, Renata Glowczynska, Tomasz Zajac, Andrzej Malecki, Agata Nowak, Pawel Kazmierczak, Ewa Piotrowicz, Ryszard Piotrowicz, Milosz Jaguszewski, Grzegorz Opolski, Marcin Grabowski
Summary: Telerehabilitation (TR) was developed to overcome geographical barriers and staff deficiencies in delivering rehabilitation services, especially during crisis situations like the COVID-19 pandemic. It has been shown to have similar clinical outcomes and cost-effectiveness compared to traditional rehabilitation, but also has limitations such as lack of direct contact and patient competencies in handling mobile devices. This article discusses the current status of TR, with a focus on cardiac rehabilitation, covering technical/organizational and legal aspects, indications, cost-effectiveness, and future directions.
CARDIOLOGY JOURNAL
(2023)
Article
Cardiac & Cardiovascular Systems
Lukasz Koltowski, Mariusz Tomaniak, Dorota Ochijewicz, Grzegorz Opolski, Janusz Kochman
Summary: The purpose of this study was to assess the safety and effectiveness of the Fantom BRS 6 months after implantation using optical coherence tomography (OCT) imaging. The results showed that there were no major adverse cardiac events or device-orientated composite endpoints within the 6-month follow-up period. Furthermore, quantitative coronary angiography (QCA) and OCT imaging revealed a decrease in lumen diameter and area, as well as improved expansion index and malposition rate.
CARDIOVASCULAR DRUGS AND THERAPY
(2023)
Article
Neurosciences
Agnieszka Piechal, Alicja Jakimiuk, Justyna Pyrzanowska, Kamilla Blecharz-Klin, Ilona Joniec-Maciejak, Alicja Wiercinska-Drapalo, Dagmara Mirowska-Guzel, Ewa Widy-Tyszkiewicz
Summary: sigma-1 and sigma-2 receptors are highly concentrated in the brain and their altered expression can lead to neuropsychiatric disorders. Administering DTG to rats affected their learning and memory processes as well as neurotransmitter levels in selected brain structures. The administration of DTG showed dose-dependent effects on memory, with the DTG10 group showing improvement while the DTG30 group performed worse.
Article
Physiology
Rafal Pawlowski, Pawel Zalewski, Julia Newton, Agnieszka Piatkowska, Edward Kozluk, Grzegorz Opolski, Katarzyna Buszko
Summary: Heart Rate Asymmetry (HRA) refers to the differences between accelerations and decelerations in human heart rate. The methods used for HRA assessment can also be applied to evaluate asymmetry in blood pressure variations (BPA). Through the analysis of heart rate and blood pressure signals from vasovagal patients and healthy individuals, it was found that HRA indicators changed only in the control group during tilt stage. Additionally, the vasovagal patients had significantly different pulse pressures compared to the healthy subjects.
FRONTIERS IN PHYSIOLOGY
(2023)
Article
Cardiac & Cardiovascular Systems
Monika Budnik, Monika Gawalko, Piotr Lodzinski, Agata Tyminska, Krzysztof Ozieranski, Marcin Grabowski, Michal Peller, Anna Wancerz, Marek Kiliszek, Grzegorz Opolski, Radoslaw Lenarczyk, Zbigniew Kalarus, Gregory Y. H. Lip, Pawel Balsam
Summary: Heart failure has a significant impact on clinical outcomes in atrial fibrillation patients, leading to higher mortality rates and more frequent cardiovascular interventions and events. There is no statistically significant difference in long-term outcomes among different types of heart failure.
Article
Clinical Neurology
A. Cudna, E. Bronisz, D. Mirowska-Guzel, I. Kurkowska-Jastrz Ebska
Summary: Damage to the blood-brain barrier (BBB) from neuroinflammation after epileptic seizures can disrupt brain homeostasis. This study examined the involvement of modulatory proteins in BBB integration. Serum analysis of 50 epilepsy patients showed slight increases in MMP-2 levels after seizures, along with decreases in TSP-1 and -2 levels and an increase in TIMP-2 expression. However, there were no significant changes in alpha 2-macroglobulin and MMP-7 levels. These findings suggest the initiation of repair processes and improved integrity of the BBB after seizures. Further studies correlating serum markers with brain expression are needed for potential identification of epileptic seizure biomarkers.
Article
Clinical Neurology
Agnieszka Piechal, Jan Bembenek, Anna Baranowska, Tomasz Litwin, Dagmara Mirowska-Guzel, Anna Czlonkowska
Summary: This study evaluated olfactory dysfunction in patients with Wilson's Disease (WD) and found that patients with WD had a weaker sense of smell compared to healthy controls. Older individuals and those with predominantly neurological symptoms were more likely to experience olfactory disorders.
NEUROLOGIA I NEUROCHIRURGIA POLSKA
(2023)
Article
Medicine, General & Internal
Yudai Iwasaki, Yusuke Takei, Mitsuhiro Yamada, Shigekazu Sugino, Koji Saito, Tetsuji Aoyagi, Kengo Oshima, Hajime Kanamori, Hiroaki Baba, Kentarou Takei, Koichi Tokuda, Eichi N. Kodama, Tetsuro Kamo, Tadashi Kamio, Takehiko Kasai, Satoru Ogawa, Masanori Yamauchi
Summary: This study aimed to evaluate the association between COVID-19 coagulopathy and extracellular vesicle (EV) levels. No significant difference was found in EV levels between COVID-19 coagulopathy patients and non-coagulopathy patients. However, CD41+ EV levels were significantly higher in COVID-19 coagulopathy patients and might play an essential role in the development of COVID-19 coagulopathy.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Medicine, General & Internal
Bartosz Krzowski, Maria Boszko, Michal Peller, Paulina Hoffman, Natalia Zurawska, Kamila Skoczylas, Gabriela Osak, Lukasz Koltowski, Marcin Grabowski, Grzegorz Opolski, Pawel Balsam
Summary: Cardiac rehabilitation after acute myocardial infarction is crucial for improving patients' prognosis. This study aimed to evaluate a mobile application for post-heart attack patients and investigate the impact of a digitally-supported model of care compared to standard rehabilitation. Although the study did not show a significant reduction in rehospitalizations, patients using the mobile app had lower levels of NT-proBNP and better knowledge of cardiovascular disease risk factors. This study demonstrates the potential of telemedical tools in the clinical setting.
JOURNAL OF CLINICAL MEDICINE
(2023)
Article
Clinical Neurology
P. L. Wencel, K. Blecharz-Klin, A. Piechal, J. Pyrzanowska, D. Mirowska-Guzel, R. P. Strosznajder
Summary: Obesity is a risk factor for type 2 diabetes and is related to memory and executive function decline. Fingolimod, an S1PR modulator, can improve gene expression in the brains of obese mice and restore normal cognitive behavior patterns, suggesting a beneficial effect on CNS function.
Review
Pharmacology & Pharmacy
Alicja Jakimiuk, Agnieszka Piechal, Alicja Wiercinska-Drapalo, Alicja Nowaczyk, Dagmara Mirowska-Guzel
Summary: Evaluation of dolutegravir reveals a risk of CNS disorders associated with long-term use. Pharmacokinetics and clinical trials assessing adverse effects and discontinuation frequency were reviewed. Factors affecting CNS disorders were summarized, highlighting the importance of pharmacovigilance for newly registered drugs.
PHARMACOLOGICAL REPORTS
(2023)
Article
Cardiac & Cardiovascular Systems
Szymon Jonik, Maria Boszko, Elena Sztemberg, Dominik Lepecki, Bartlomiej Grodzinski, Marcin Mikusek-Pham Van, Michal Marchel, Janusz Kochman, Mariusz Kusmierczyk, Grzegorz Opolski, Marcin Grabowski, Tomasz Mazurek
Summary: This study investigates the impact of the COVID-19 pandemic on the functioning of the Heart Team. The results show a decrease in the number of meetings and consulted patients, as well as changes in treatment strategies, suggesting a significant impact of the pandemic on the Heart Team.
FRONTIERS IN CARDIOVASCULAR MEDICINE
(2023)
Article
Biochemistry & Molecular Biology
Sonia Borodzicz-Jazdzyk, Agnieszka Kolodzinska, Katarzyna Czarzasta, Malgorzata Wojciechowska, Renata Glowczynska, Benedykt Szczepankiewicz, Liana Puchalska, Grzegorz Opolski, Agnieszka Cudnoch-Jedrzejewska
Summary: The aim of this study was to evaluate the presence and dynamics of necroptosis and pyroptosis in the rat model of TTS. The results showed higher plasma concentrations of interleukin-1β in TTS patients compared to controls. Protein expression associated with necroptosis and pyroptosis was observed in the myocardium after the injection of isoprenaline. These findings suggest that TTS is associated with inflammatory-associated programmed cell death and inflammation may occur simultaneously with cardiomyocyte death.
Review
Cardiac & Cardiovascular Systems
Michal Wasiak, Mateusz Tajstra, Dariusz Kosior, Mariusz Gasior
Summary: Recent data shows that there is no mortality benefit from implantable cardioverter-defibrillator (ICD) therapy compared to optimal medical treatment in patients with non-ischemic cardiomyopathy. Despite recommendations for ICD implantation remaining unchanged, these findings have significantly impacted the routine practice of ICD implantation in Europe.
CARDIOLOGY JOURNAL
(2023)
Review
Primary Health Care
Dagmara Mirowska-Guzel, Magdalena Niedzielko, Rafal Kulakowski
Summary: Nirmatrelvir/ritonavir (Paxlovid) is indicated for high-risk patients with severe COVID-19, with ritonavir acting as a pharmacokinetic booster. Ritonavir can affect plasma levels of other drugs, potentially leading to interactions and adverse reactions. Data on the clinical impact of Paxlovid DDIs is currently lacking, and there is uncertainty in managing the co-administration of various medications.
FAMILY MEDICINE AND PRIMARY CARE REVIEW
(2023)
