Article
Endocrinology & Metabolism
Marek Saracyn, Bartlomiej Kisiel, Maria Franaszczyk, Dorota Brodowska-Kania, Wawrzyniec Zmudzki, Robert Malecki, Longin Niemczyk, Przemyslaw Dyrla, Grzegorz Kaminski, Rafal Ploski, Stanislaw Niemczyk
Summary: Our study suggests that SNPs associated with DKD may not be specific for DKD but may increase the risk for CKD of different etiology, particularly those affecting renal glomeruli.
WORLD JOURNAL OF DIABETES
(2021)
Article
Urology & Nephrology
Wei Zhu, Xin Zhang, Zhen Zhou, Yin Sun, Guangyuan Zhang, Xiaolu Duan, Zhicong Huang, Guoyao Ai, Yang Liu, Zhijian Zhao, Wen Zhong, Guohua Zeng
Summary: This study found a significant association between single nucleotide polymorphisms (SNPs) and kidney stone recurrence, and SNPs can provide prognostic value in addition to traditional clinical risk factors. A predictive model combining clinical and genetic variables shows potential as an assessment tool for evaluating the recurrence risk of kidney stones.
CLINICAL KIDNEY JOURNAL
(2023)
Article
Health Care Sciences & Services
Hendri Susilo, Mochammad Thaha, Budi Susetyo Pikir, Mochamad Yusuf Alsagaff, Satriyo Dwi Suryantoro, Citrawati Dyah Kencono Wungu, Nando Reza Pratama, Cennikon Pakpahan, Delvac Oceandy
Summary: Plasma IL-6 levels play an important role in ASCVD risk and cardiovascular mortality risk in Javanese patients with CKD.
JOURNAL OF PERSONALIZED MEDICINE
(2022)
Article
Endocrinology & Metabolism
Vijay Singh Gondil, Aarthi Chandrasekaran, Ashu Rastogi, Ashok Kumar Yadav, Ashwani Sood, Raja Ramachandran, Vivek Kumar, Manish Rathi, Harbir Singh Kohli, Vivekanand Jha, Krishan Lal Gupta
Summary: Thyroid hormone replacement therapy in patients with severe primary hypothyroidism improves eGFR and decreases 24-hour urine protein excretion, suggesting reversible alterations.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2021)
Article
Medicine, General & Internal
Filipe Marques, Joana Reis, Iolanda Godinho, Marta Pereira, Paulo Fernandes, Sofia Jorge, Jose Antonio Lopes, Joana Gameiro
Summary: Proteinuria reduction to lower than 1 g/24 h during the first year after diagnosis is a protective factor for the long-term decline of kidney function in patients with glomerular disease, having a more important role than proteinuria or the GFR at the time of the diagnosis.
JOURNAL OF CLINICAL MEDICINE
(2022)
Article
Biotechnology & Applied Microbiology
Sarah R. Oikemus, Edith L. Pfister, Ellen Sapp, Kathryn O. Chase, Lori A. Kennington, Edward Hudgens, Rachael Miller, Lihua Julie Zhu, Akanksh Chaudhary, Eric O. Mick, Miguel Sena-Esteves, Scot A. Wolfe, Marian DiFiglia, Neil Aronin, Michael H. Brodsky
Summary: Huntington's disease is a neurodegenerative disease caused by a trinucleotide repeat expansion in the huntingtin gene. Inactivation of the mutant allele using CRISPR-Cas9 gene editing offers a potential therapeutic approach, and targeting a protein coding sequence containing a single nucleotide polymorphism allows for allele-specific inactivation. This study successfully demonstrated allele-selective reduction of mutant huntingtin protein in a mouse model of the disease.
HUMAN GENE THERAPY
(2022)
Article
Medicine, General & Internal
Aishwarya Gopal, Chengappa Kavadichanda, Devender Bairwa, Sanket Shah, Sonal Mehra, Bheemanathi Hanuman Srinivas, Christina Mary Mariaselvam, Molly Mary Thabah, Vir Singh Negi
Summary: This study evaluated the performance of clinical and biochemical parameters in identifying renal histopathology, as well as the performance of a combination of demographic, clinical, serologic, and histopathological parameters in predicting renal response at one year. The results showed that clinical and biochemical parameters alone have poor specificity in identifying renal histopathology, while a combination of demographic, clinical, and histopathological parameters can better predict renal outcomes at one year.
Review
Urology & Nephrology
Jinfang Song, Jiang Ni, Xiaoxing Yin
Summary: DKD is one of the most common complications of diabetes, and its pathogenesis remains largely unknown. Genetic and environmental factors play important roles in DKD, with familial clustering supporting the critical role of hereditary factors. Exploring and identifying susceptibility genes for DKD can provide insights into its pathogenesis and improve its prevention and treatment.
INTERNATIONAL UROLOGY AND NEPHROLOGY
(2023)
Article
Genetics & Heredity
Abudureyimu Shajidan, Abulaiti Palida, Hui Li, Zhi Xing, Shasha Liu, Wen Li, Ying Gao
Summary: The study evaluated the roles of endothelial lipase gene (LIPG) related SNPs in patients with coronary artery disease (CAD), finding that the CC + AC genotype in rs3813082 was protective for CAD, while rs3744843, rs3744841, and rs2000813 variants were associated with lipid parameters and vascular stenosis in CAD patients. The results provide a promising reference for preventing CAD.
Article
Peripheral Vascular Disease
Yuta Suzuki, Hidehiro Kaneko, Yuichiro Yano, Akira Okada, Katsuhito Fujiu, Satoshi Matsuoka, Nobuaki Michihata, Taisuke Jo, Norifumi Takeda, Hiroyuki Morita, Koichi Node, Hideo Yasunaga, Suzanne Oparil, Issei Komuro
Summary: This study examined the relationship between blood pressure and cardiovascular disease risk in individuals with proteinuria and preserved estimated glomerular filtration rate. The results showed that stage 1 and stage 2 hypertension were associated with an increased risk of cardiovascular disease among medication-naive individuals, while only stage 2 hypertension was associated with an increased risk among those taking blood pressure-lowering medications. This study provides important insights into the cardiovascular disease risk in this population.
HYPERTENSION RESEARCH
(2023)
Article
Peripheral Vascular Disease
Avishai M. Tsur, Inbal Akavian, Estela Derazne, Dorit Tzur, Asaf Vivante, Ehud Grossman, Ran S. Rotem, Boris Fishman, Arnon Afek, Josef Coresh, Gabriel Chodick, Gilad Twig
Summary: The study found an association between blood pressure above 130/80 mm Hg in adolescence and the risk of early kidney damage in young adulthood, especially for overweight and obese adolescents.
Article
Medical Laboratory Technology
Sushma Thimmaiah Kanakalakshmi, Shilna Muttickal Swaminathan, Pooja Basthi Mohan, Shankar Prasad Nagaraju, Mohan Bhojaraja, Sindhura Lakshmi Koulmane Laxminarayana
Summary: Diabetic kidney disease (DKD) is a common cause of renal failure in chronic kidney disease (CKD) patients. The limitations of current diagnostic markers call for the search of novel biomarkers. Microparticles, which play a role in cell-to-cell communication, show potential in early diagnosis and prognosis of DKD.
CLINICA CHIMICA ACTA
(2022)
Article
Radiology, Nuclear Medicine & Medical Imaging
Cinthia Cruz-Romero, Abra Guo, William F. Bradley, Joao R. T. Vicentini, Vijay Yajnik, Michael S. Gee
Summary: This study found significant associations between CD genotype and MRE phenotype, as well as frequency of cross-sectional imaging. Specific genetic polymorphisms were found to be associated with small bowel inflammation and luminal narrowing, while another polymorphism was associated with age of onset, proportion of early disease onset patients, and average number of cross-sectional imaging per year.
JOURNAL OF MAGNETIC RESONANCE IMAGING
(2021)
Article
Medicine, General & Internal
Liang Ma, Shaoting Wang, Hailing Zhao, Meijie Yu, Xiangling Deng, Yongwei Jiang, Yongtong Cao, Ping Li, Wenquan Niu
Summary: The study found a significant association between two polymorphisms in the ApoB gene and diabetic kidney disease (DKD) risk, as well as an increased risk of DKD associated with haplotype T-A-G-T. The ApoB gene may be a candidate gene for DKD in Chinese patients with type 2 diabetes mellitus.
FRONTIERS IN MEDICINE
(2021)
Article
Clinical Neurology
Seung Eun Lee, Juhwan Yoo, Han Seok Choi, Kyungdo Han, Kyoung-Ah Kim
Summary: This study evaluated the risk of Parkinson's disease (PD) among patients with type 2 diabetes stratified by proteinuria (PU) and estimated glomerular filtration rate (eGFR) levels. The results indicated that reduced eGFR and/or proteinuria might be independent risk factors for PD development among patients with type 2 diabetes, especially in younger age groups.
PARKINSONISM & RELATED DISORDERS
(2022)
Review
Immunology
Pooja Budhiraja, Bruce Kaplan, Mohamad Kalot, Abdallah El Alayli, Ahmad Dimassi, Harini A. Chakkera, Raymond Heilman, Audrene S. Edwards, Reem A. Mustafa
Summary: The study examines the strength of evidence from randomized controlled trials (RCTs) on kidney transplantation published in the last decade using the fragility index (FI). The findings suggest that the interpretation of results based solely on a significance level of 0.05 may be insufficient due to methodological limitations in the included trials.
Article
Surgery
Harini A. Chakkera, Bruce Kaplan, Pooja Budhiraja, Senaida Behmen, Dennis Fitz-Patrick, Richard J. Butterfield
Summary: This study evaluated the association and discriminative capacity of VO2peak and EPTS score on all-cause mortality post-kidney transplant. Results showed that lower pre-transplant VO2peak and higher EPTS score increased the risk of post-transplant mortality; and among low-risk patients, those with lower VO2peak had significantly higher mortality risk.
CLINICAL TRANSPLANTATION
(2022)
Article
Endocrinology & Metabolism
Elsa Vazquez Arreola, Robert L. Hanson, Clifton Bogardus, William C. Knowler
Summary: This study examined the relationship between insulin secretion, insulin sensitivity, and the development of type 2 diabetes in American Indians. It found that the combination of insulin secretion and sensitivity is a better predictor of diabetes than the disposition index alone.
Article
Endocrinology & Metabolism
Yunhua L. Muller, Jeff Sutherland, Anup K. Nair, Cigdem Koroglu, Sayuko Kobes, William C. Knowler, Cristopher V. Van Hout, Alan R. Shuldiner, Robert L. Hanson, Clifton Bogardus, Leslie J. Baier
Summary: The study analyzed the LIPE gene as a candidate gene for the development of type 2 diabetes in American Indians and found that an Arg611Cys variant was significantly associated with T2D and an earlier onset age of the disease. Functional studies showed that the variant caused a decrease in lipolysis, affecting glucose homeostasis and increasing the risk of T2D.
DIABETES-METABOLISM RESEARCH AND REVIEWS
(2022)
Article
Transplantation
Matthew R. D'Costa, Massini A. Merzkani, Aleksandar Denic, Aidan F. Mullan, Joseph J. Larson, Walter K. Kremers, Walter D. Park, Mariam P. Alexander, Harini A. Chakkera, Sandra J. Taler, Stephen J. Erickson, Mark D. Stegall, Naim Issa, Andrew D. Rule
Summary: Nephrolithiasis in living kidney donors can be evaluated for risk based on baseline clinical, imaging, and biopsy characteristics. Long-term follow-up shows that there is no increased risk of kidney complications in select stone formers after donation.
TRANSPLANTATION DIRECT
(2022)
Article
Transplantation
Massini A. Merzkani, Andrew J. Bentall, Byron H. Smith, Xiomara Benavides Lopez, Matthew R. D'Costa, Walter D. Park, Walter K. Kremers, Naim Issa, Andrew D. Rule, Harini Chakkera, Kunam Reddy, Hasan Khamash, Hani M. Wadei, Martin Mai, Mariam P. Alexander, Hatem Amer, Aleksandra Kukla, Mireille El Ters, Carrie A. Schinstock, Manish J. Gandhi, Raymond Heilman, Mark D. Stegall
Summary: This study aimed to assess risk factors for specific causes of graft loss after kidney transplantation. The results identified two distinct high-risk populations: a younger group with graft failure (GF) due to alloimmunity, and an older, commonly diabetic group with death with a functioning graft (DWFG) and GF due to a mixture of causes, many of which were nonalloimmune. Individualized management is needed to improve long-term renal allograft survival in the latter group.
TRANSPLANTATION DIRECT
(2022)
Review
Endocrinology & Metabolism
Johanna K. DiStefano, Glenn S. Gerhard
Summary: Lean individuals can develop NAFLD similar to obesity-related cases, with potential for more severe hepatic consequences and higher mortality. Lack of early symptoms and abnormal laboratory findings may lead to under-screening in lean individuals, but raising awareness of NAFLD risks in this population is important.
DIABETOLOGY & METABOLIC SYNDROME
(2022)
Article
Multidisciplinary Sciences
Yue Shan, Shelley A. Cole, Karin Haack, Phillip E. Melton, Lyle G. Best, Christopher Bizon, Sayuko Kobes, Cigdem Koroglu, Leslie J. Baier, Robert L. Hanson, Serena Sanna, Yun Li, Nora Franceschini
Summary: Clinical and biomarker phenotypic associations for carriers of protein function-altering variants can help uncover gene function and health effects in populations. In this study, we genotyped participants from the Strong Heart Family Study and identified several significant associations between protein-coding variants and cardiometabolic traits. These findings highlight the importance of studying diverse and high-risk populations to discover novel gene-trait associations that may not be present in publicly available databases.
SCIENTIFIC REPORTS
(2022)
Article
Endocrinology & Metabolism
Elsa Vazquez Arreola, William C. Knowler, Robert L. Hanson
Summary: This study investigated the effects of weight loss, an intensive lifestyle intervention (ILS), and metformin on the relationship between insulin secretion and sensitivity. The results showed that weight loss can decrease insulin secretory demand and increase compensatory insulin secretion, leading to a reduced risk of developing diabetes.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM
(2022)
Article
Public, Environmental & Occupational Health
Maria J. Ramirez-Luzuriaga, Sayuko Kobes, Madhumita Sinha, William C. Knowler, Robert L. Hanson
Summary: Early and accelerated adolescent growth spurt is a risk factor for diabetes, particularly in males, and this association is only partially explained by measures of adiposity and insulinemia. Childhood factors should be considered when studying the association between early puberty onset and diabetes.
AMERICAN JOURNAL OF EPIDEMIOLOGY
(2023)
Article
Endocrinology & Metabolism
Lauren E. Wedekind, Anubha Mahajan, Wen-Chi Hsueh, Peng Chen, Muideen T. Olaiya, Sayuko Kobes, Madhumita Sinha, Leslie J. Baier, William C. Knowler, Mark I. McCarthy, Robert L. Hanson
Summary: This study examines the contribution of polygenic scores (PSs) based on genome-wide association studies (GWASs) to predict type 2 diabetes incidence in non-European-ancestry populations. The results show that the PSs have similar predictive power as clinical variables and can assist in identifying individuals at higher risk, particularly in younger populations.
Article
Endocrinology & Metabolism
Khushdeep Bandesh, Michael Traurig, Peng Chen, Wen-Chi Hsueh, Robert L. Hanson, Paolo Piaggi, Leslie J. Baier
Summary: A new gene locus, NFIA-AS2, related to body mass index (BMI), was identified in southwestern American Indians. The study found that a mutation in this locus is associated with a decrease in BMI and NFIA-AS2 is expressed in tissues relevant to obesity. These findings suggest a role for NFIA-AS2 in regulating pathways that impact BMI.
INTERNATIONAL JOURNAL OF OBESITY
(2023)
Review
Nutrition & Dietetics
Johanna K. DiStefano
Summary: Nonalcoholic fatty liver disease (NAFLD) is a prevalent condition among postmenopausal women that can lead to severe liver dysfunction and increased mortality. Research has focused on identifying potential dietary interventions for NAFLD in this population. Different subtypes of NAFLD exist in postmenopausal women, and targeted nutritional interventions may be beneficial. This review examines the potential role of choline, soy isoflavones, and probiotics in preventing and treating NAFLD in postmenopausal women.
Editorial Material
Biochemistry & Molecular Biology
Patrick K. T. Shiu, Mirolyuba Ilieva, Anja Holm, Shizuka Uchida, Johanna K. DiStefano, Agnieszka Bronisz, Ling Yang, Yoh Asahi, Ajay Goel, Liuqing Yang, Ashok Nuthanakanti, Alexander Serganov, Suresh K. Alahari, Chunru Lin, Barbara Pardini, Alessio Naccarati, Jing Jin, Beshoy Armanios, Xiao-bo Zhong, Nikolaos Sideris, Salih Bayraktar, Leandro Castellano, Andre P. Gerber, He Lin, Simon J. Conn, Doha Magdy Mostafa Sleem, Lisa Timmons
Review
Medicine, General & Internal
Helen C. Looker, Douglas C. Chang, Leslie J. Baier, Robert L. Hanson, Robert G. Nelson
Summary: This review summarizes the long-term prospective studies conducted by the Phoenix Epidemiology and Clinical Research Branch on diabetes and its complications in the Pima Indians. It highlights vital insights into the diagnosis criteria, pathophysiologic changes, and determinants of diabetes complications, with a specific focus on diabetic kidney disease. The review also addresses the emerging health threat of youth-onset type 2 diabetes seen in the Pima Indians.
