Article
Cell Biology
Sen Li, Zhaoqi Jia, Zhang Zhang, Yuxin Li, Meihui Yan, Tingting Yu
Summary: Novel associations between cardiovascular diseases and key genetic variants were identified in the study, highlighting the importance of genetic testing in the diagnosis and prevention of CVDs.
FRONTIERS IN CELL AND DEVELOPMENTAL BIOLOGY
(2021)
Article
Public, Environmental & Occupational Health
James W. White, Mark Hamer, G. David Batty
Summary: The study found that exposure to homelessness in early adulthood was essentially unrelated to biomarkers in middle age, with inconsistent links found for specific types of experience.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
(2022)
Article
Nutrition & Dietetics
Hexiang Peng, Siyue Wang, Mengying Wang, Xueheng Wang, Huangda Guo, Jie Huang, Tao Wu
Summary: The association between lifestyles and cardiovascular disease is limited, but a healthy lifestyle can offset the genetic risk of CVD in females with breast cancer. The study found that participants with 4-5 healthy lifestyle components had a lower risk of cardiovascular disease compared to those with 0-1 lifestyle components. Among participants at high genetic risk, a healthy lifestyle was associated with a lower risk of cardiovascular disease.
Article
Cardiac & Cardiovascular Systems
Havisha Pedamallu, Rachel Zmora, Amanda M. Perak, Norrina B. Allen
Summary: Since 2010, there has been extensive research on cardiovascular health (CVH) across the life course. This review highlights the importance of prenatal and childhood exposures in shaping CVH trajectories and the strong predictive value of CVH for various health outcomes. Interventions to improve CVH are uncommon, especially in children, and future research needs to focus on effective and sustainable strategies, with technology and community engagement playing key roles.
CIRCULATION RESEARCH
(2023)
Article
Rheumatology
Yuetian Yu, Ying Sun, Yuying Wang, Yuefeng Yu, Bin Wang, Chi Chen, Xiao Tan, Yingli Lu, Ningjian Wang
Summary: There is an association between immune-mediated diseases and cardiovascular disease. This study analyzes the risk of developing cardiovascular disease in people with 20 different immune-mediated diseases. The results show a significant increase in the risk of cardiovascular disease in individuals with immune-mediated diseases.
Article
Rheumatology
Bora Nam, Sungsin Jo, So-Young Bang, Youngho Park, Ji Hui Shin, Ye-Soo Park, Seunghun Lee, Kyung Bin Joo, Tae-Hwan Kim
Summary: This study identified clinical and genetic factors associated with severe radiographic damage in patients with ankylosing spondylitis (AS). The results showed that baseline mSASSS, peripheral joint arthritis, uveitis, and smoking were significant clinical factors associated with radiographic damage. The RYR3 gene and the PI3K-Akt signaling pathway were also found to be associated with severe radiographic damage.
ANNALS OF THE RHEUMATIC DISEASES
(2023)
Article
Cardiac & Cardiovascular Systems
Su-Min Jeong, Keun Hye Jeon, Wonyoung Jung, Jung Eun Yoo, Juhwan Yoo, Kyungdo Han, Ju Youn Kim, Dong-Yun Lee, You-Bin Lee, Dong Wook Shin
Summary: The risk factors of cardiovascular diseases (CVD) among Korean pre-menopausal women have not been extensively studied. This study found that later age at menarche and the use of oral contraceptives were associated with a higher risk of CVD in pre-menopausal women.
EUROPEAN JOURNAL OF PREVENTIVE CARDIOLOGY
(2023)
Review
Biochemistry & Molecular Biology
Zhuojun Wu, Vera Jankowski, Joachim Jankowski
Summary: Despite the use of medication for the prevention of cardiovascular diseases, it remains the leading cause of death globally. Non-enzymatic post-translational modifications of proteins and lipoproteins play a significant role in the development of cardiovascular diseases. Factors such as renal insufficiency and metabolic imbalance contribute to the increased frequency of these modifications. Understanding these modifications can provide new insights for risk assessment, prevention, and treatment of cardiovascular diseases.
MOLECULAR ASPECTS OF MEDICINE
(2022)
Article
Medicine, Research & Experimental
Qiuyue Tian, Shuohua Chen, Xiaoni Meng, Haotian Wang, Cancan Li, Deqiang Zheng, Lijuan Wu, Aitian Wang, Shouling Wu, Youxin Wang
Summary: This study found that maintaining a higher cardiovascular health (CVH) score can reduce the risk of cardiovascular diseases and mortality. The study also found that the duration of maintaining a favorable CVH status is associated with the risk of developing cardiovascular diseases and mortality. The results indicate that maintaining a better CVH status for more than 6 years can lower the risk of cardiovascular diseases and mortality.
JOURNAL OF TRANSLATIONAL MEDICINE
(2023)
Review
Biochemistry & Molecular Biology
Giovanni Cimmino, Francesco Natale, Roberta Alfieri, Luigi Cante, Simona Covino, Rosa Franzese, Mirella Limatola, Luigi Marotta, Riccardo Molinari, Noemi Mollo, Francesco S. Loffredo, Paolo Golino
Summary: Cardiovascular diseases are a major global health issue, causing death and reduced quality of life. Identifying and managing modifiable risk factors is crucial for prevention, but emerging factors have also impacted assessment.
Article
Nutrition & Dietetics
Anna Maria Witkowska, Anna Waskiewicz, Malgorzata Elzbieta Zujko, Alicja Cicha-Mikolajczyk, Iwona Mironczuk-Chodakowska, Wojciech Drygas
Summary: This study investigated the association between habitual intake of plant sterols and cardiovascular disease (CVD) in Polish adults. The results suggest that habitual dietary intake of plant sterols may be associated with a lower chance of developing CVD, particularly in men.
Article
Nutrition & Dietetics
Daianna Lima da Mata, Alexandre Siqueira Guedes Coelho, Dulcineia Saes Parra Abdala, Maria Aderuza Horst, Cristiane Cominetti
Summary: Genetic scores based on SNPs related to lipid metabolism were found to be significantly associated with unfavorable outcomes in circulating lipid profile biomarkers of adolescents. Each point increase in the genetic scores was associated with changes in specific lipid profile biomarkers, suggesting potential clinical applications to target interventions for reducing cardiovascular disease risk.
Article
Public, Environmental & Occupational Health
Dang Wei, Imre Janszky, Jiong Li, Krisztina D. Laszlo
Summary: Limited studies have been conducted on the association between the loss of a child and the risk of atrial fibrillation (AF). However, this population-based cohort study involving over 2.8 million parents found that bereaved parents have a higher risk of AF, emphasizing the need for increased support from family members and health professionals.
JOURNAL OF EPIDEMIOLOGY AND COMMUNITY HEALTH
(2023)
Article
Cardiac & Cardiovascular Systems
Anna C. O'Kelly, Erin D. Michos, Chrisandra L. Shufelt, Jane V. Vermunt, Margo B. Minissian, Odayme Quesada, Graeme N. Smith, Janet W. Rich-Edwards, Vesna D. Garovic, Samar R. El Khoudary, Michael C. Honigberg
Summary: In addition to conventional risk factors, women also face sex-specific risk factors for cardiovascular disease. Key stages of a woman's reproductive history, such as early and late menarche, polycystic ovary syndrome, infertility, adverse pregnancy outcomes, and absence of breastfeeding, are associated with increased future cardiovascular disease risk. The menopause transition period also represents an accelerated cardiovascular disease risk, with timing, mechanism, and symptoms of menopause playing a role. Differences in conventional risk factors explain some, but not all, of the observed associations between reproductive history and cardiovascular disease; further research is needed to understand hormonal effects and unique sex-specific mechanisms. A history of reproductive risk factors provides an opportunity for comprehensive screening, refinement of risk assessment, and implementation of prevention strategies to optimize women's long-term cardiometabolic health.
CIRCULATION RESEARCH
(2022)
Article
Endocrinology & Metabolism
Peter Francis Raguindin, Isabel Cardona, Taulant Muka, Irene Lambrinoudaki, Catherine Gebhard, Oscar H. Franco, Pedro Marques-Vidal, Marija Glisic
Summary: This study found that women have a worsening cardiovascular risk profile as they age, but the changes in cardiovascular risk factors over a 5-year period may not depend on the reproductive stage.
CLINICAL ENDOCRINOLOGY
(2022)
Article
Anatomy & Morphology
R. Rzeplinski, M. Slugocki, M. Kwiatkowska, S. Tarka, M. Tomaszewski, M. Kucewicz, K. Karczewski, P. Krajewski, J. Malachowski, B. Ciszek
Summary: The aim of this study was to assess the ability of standard CT images to visualize perforating arteries and compare it with microscopic and micro-CT pictures. The results showed that standard CT failed to clearly visualize branching points and vessels smaller than 0.25-0.5 mm in diameter. Therefore, compared to micro-CT, CT has quantitative and qualitative flaws in imaging perforating arteries.
FOLIA MORPHOLOGICA
(2023)
Review
Biotechnology & Applied Microbiology
Maciej Jankowski, Patrycja Daca-Roszak, Cezary Obracht-Prondzynski, Rafal Ploski, Beata S. Lipska-Zietkiewicz, Ewa Zietkiewicz
Summary: The frequency distribution of genetic variants among human populations is influenced by genetic drift in isolated populations, historical migrations, and demography. Identical by descent variants can lead to the increased prevalence of pathogenic diseases if they are pathogenic in nature. Studying the increased regional prevalence of pathogenic variants can provide insights into historical processes and aid in personalized medicine. This article discusses the genetic diversity in the Kashub minority group in northern Poland, focusing on the biased distribution of disease-causing variants.
JOURNAL OF APPLIED GENETICS
(2022)
Article
Biochemistry & Molecular Biology
Justyna Dabrowska, Barbara Biedziak, Anna Szponar-Zurowska, Margareta Budner, Pawel P. Jagodzinski, Rafal Ploski, Adrianna Mostowska
Summary: This study investigates the potential role of rare and private variants in the risk of non-syndromic cleft lip with or without cleft palate (ns-CL/P). The results indicate that rare coding variants may contribute to the genetic architecture of ns-CL/P. Additionally, the study suggests a common genetic link between orofacial clefts and dental abnormalities.
MOLECULAR GENETICS AND GENOMICS
(2022)
Article
Genetics & Heredity
Agnieszka Stembalska, Malgorzata Rydzanicz, Magdalena Klaniewska, Lech Dudarewicz, Agnieszka Pollak, Mateusz Biela, Piotr Stawinski, Rafal Ploski, Robert Smigiel
Summary: Skeletal dysplasias are a heterogeneous group of genetic disorders that affect bone and cartilage development. Prenatal diagnosis and genetic consultation are important for prognosis and management.
Article
Genetics & Heredity
Lena Rutkowska, Iwona Pinkier, Kinga Salacinska, Lukasz Kepczynski, Dominik Salachna, Joanna Lewek, Maciej Banach, Pawel Matusik, Ewa Starostecka, Andrzej Lewinski, Rafal Ploski, Piotr Stawinski, Agnieszka Gach
Summary: The aim of this study was to identify novel CNV changes in FH patients using targeted sequencing and evaluate the suitability of the DECoN tool for CNV calling. The results suggest that the NGS-based approach has the potential to identify large-scale variations in the LDLR gene, but MLPA confirmation is still necessary.
Article
Genetics & Heredity
Barbara Biedziak, Justyna Dabrowska, Anna Szponar-Zurowska, Ewelina Bukowska-Olech, Aleksander Jamsheer, Ewa Mojs, Jennifer Mulle, Rafal Ploski, Adrianna Mostowska
Summary: This study identified a family with a recurrent 3q29 deletion, which is associated with orofacial clefts. The results suggest that the 3q29 deletion may be the primary risk factor for orofacial clefts, with additional genomic variants, methylation changes, or environmental exposure serving as modifiers of this risk.
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
(2023)
Article
Biochemistry & Molecular Biology
Beata Mrozikiewicz-Rakowska, Ilona Szablowska-Gadomska, Dominik Cysewski, Stefan Rudzinski, Rafal Ploski, Piotr Gasperowicz, Magdalena Konarzewska, Jakub Zielinski, Mateusz Mieczkowski, Damian Sienko, Tomasz Grzela, Maria Noszczyk, Barbara Paleska, Leszek Czupryniak, Malgorzata Lewandowska-Szumiel
Summary: This study examined the safety and efficacy of allogenic adipose-derived stem cells (ADSCs) in diabetic foot ulcer treatment. The results showed that patients treated with ADSCs had faster wound healing and smaller wound size, which correlated with molecular changes. These findings have important implications for the development of cell-based therapies.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Multidisciplinary Sciences
Katarzyna Jaskiewicz, Magdalena Maleszka-Kurpiel, Andrzej Michalski, Rafal Ploski, Malgorzata Rydzanicz, Marzena Gajecka
Summary: This study identified male sex, eye rubbing, time of using a computer after work, and dust in the working environment as substantial risk factors for keratoconus, which affect the corneal epithelium. Gene expression analysis showed that eye rubbing may cause cellular stress and affect the phenotype of keratoconus.
Article
Genetics & Heredity
Justyna Paprocka, Aleksandra Jezela-Stanek, Robert Smigiel, Anna Walczak, Hanna Mierzewska, Anna Kutkowska-Kazmierczak, Rafal Ploski, Ewa Emich-Widera, Barbara Steinborn
Summary: This study analyzed the first Polish patients with confirmed heterozygous pathogenic and potentially pathogenic KIF1A variants. Three novel variants were identified. The authors highlighted the difficulties in classifying particular syndromes due to non-specific and overlapping signs and symptoms, sometimes observed only temporarily.
Review
Medicine, General & Internal
Patryk Lipinski, Elzbieta Ciara, Dorota Jurkiewicz, Magda Mekrouda, Joanna Cielecka-Kuszyk, Elzbieta Jurkiewicz, Rafal Ploski, Joanna Pawlowska, Irena Jankowska
Summary: This study presents the clinical, pathological and molecular report of six patients with DCDC2 biallelic pathogenic variants. All patients presented with cholestatic jaundice and elevated GGT, and one patient also had features of renal disease. Three different variants in the DCDC2 gene were identified. The main clinical presentation of DCDC2-related ciliopathy was neonatal sclerosing cholangitis.
Article
Genetics & Heredity
Katarzyna Bzdega, Mateusz Biela, Gail H. Deutsch, Joseph A. Kitzmiller, Malgorzata Rydzanicz, Rafal Ploski, Jeffrey A. Whitsett, Robert Smigiel, Justyna A. Karolak
Summary: Congenital alveolar dysplasia (CAD) is a rare and lethal lung developmental disorder characterized by respiratory failure and pulmonary arterial hypertension. Most CAD cases are associated with copy-number variant (CNV) deletions at 17q23.1q23.2 or 5p12. This study reports a novel non-recurrent CNV deletion involving TBX4 gene in a CAD patient, providing evidence that perturbations in TBX4, rather than TBX2, cause severe lung phenotypes in humans.
Article
Biochemistry & Molecular Biology
Anna Kloska, Agata Gielczyk, Tomasz Grzybowski, Rafal Ploski, Sylwester M. Kloska, Tomasz Marciniak, Krzysztof Palczynski, Urszula Rogalla-Ladniak, Boris A. Malyarchuk, Miroslava V. Derenko, Natasa Kovacevic-Grujicic, Milena Stevanovic, Danijela Drakulic, Slobodan Davidovic, Magdalena Spolnicka, Magdalena Zubanska, Marcin Wozniak
Summary: Data obtained through massive parallel sequencing can be useful in population genetics studies. Machine learning techniques were used in this study to classify DNA samples from Slavic and non-Slavic individuals, with the aim of discerning the genetic provenance of individuals of Slavic descent.
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES
(2023)
Article
Genetics & Heredity
Joanna Kinga Poninska, Weronika Pelczar-Plachta, Agnieszka Pollak, Katarzyna Jonczyk-Potoczna, Grazyna Truszkowska, Ilona Michalowska, Emilia Szafran, Zofia T. Bilinska, Waldemar Bobkowski, Rafal Ploski
Summary: Familial thoracic aortic aneurysms and dissections in pediatric patients are extremely rare, and there is limited knowledge about the pathogenic variants. This case report presents a 5.5-year-old girl with early-onset aortic aneurysm and concomitant polycystic kidney disease. Whole exome sequencing and family screening identified the presence of two pathogenic variants in the LOX and PKD1 genes in the patient.
Article
Endocrinology & Metabolism
Marzena Gajecka, Pawel Gutaj, Katarzyna Jaskiewicz, Malgorzata Rydzanicz, Tomasz Szczapa, Dorota Kaminska, Grzegorz Kosewski, Juliusz Przyslawski, Rafal Ploski, Ewa Wender-Ozegowska
Summary: This study quantitatively and functionally examined the microbiota in maternal-neonatal dyads from gravidae with type 1 diabetes and explored the impact of pregnancy-specific factors on the microbiomes. It found that type 1 diabetes and certain confounding factors can influence the neonatal microbiomes.
