Results 61 to 70 of about 1,062,540 (244)

Hormone therapy (HT) in women with premature ovarian insufficiency or early menopause: Time to think of a new paradigm for healthy aging. A joint FIGO and IMS position paper

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Premature ovarian insufficiency (POI) and early menopause (EM) affect millions of women worldwide. Compared with normal menopause, they confer a longer duration of estrogen deficiency and are associated not only with a shorter lifespan, but with a reduced healthspan, owing to an increased risk of cardiovascular, skeletal, cognitive and ...
Chiara Benedetto, Suvarna S. Khadilkar, Rossella E. Nappi, Andrea R. Genazzani, Federica Frezet, Laura Cucinella, Hema Divakar, Panagiotis Anagnostis, Nick Panay   +8 more
wiley   +1 more source

Clinical Implications of Urinary C-Peptide Creatinine Ratio in Patients with Different Types of Diabetes

Journal of Diabetes Research, 2019
Introduction. Urinary C-peptide creatinine ratio (UCPCR) is used as a marker of endogenous insulin secretion. This study aims to assess the effectiveness of UCPCR for distinguishing between type 1 diabetes (T1DM) and non-T1DM (monogenic diabetes and T2DM)
Yanai Wang, Ying Gao, Xiaoling Cai, Ling Chen, Lingli Zhou, Yumin Ma, Siqian Gong, Xueyao Han, Linong Ji   +8 more
doaj   +1 more source

Maternally inherited diabetes and deafness (MIDD): An uncommon but important cause of diabetes

Endocrine and Metabolic Science, 2021
It is estimated that between 0.5% to 2.8% of patients with diabetes have maternally inherited diabetes and deafness (MIDD), which is caused by a mutation at position 3243 of the mitochondrial DNA.
Aleena Shujaat Ali, Elif Ilhan Ekinci, Felicity Pyrlis   +2 more
doaj   +1 more source

Advancing Monogenic Diabetes Research and Clinical Care by Creating a Data Commons: The Precision Diabetes Consortium (PREDICT). [PDF]

J Diabetes Sci Technol
Monogenic diabetes mellitus (MDM) is a group of relatively rare disorders caused by pathogenic variants in key genes that result in hyperglycemia. Lack of identified cases, along with absent data standards, and limited collaboration across institutions ...
McCullough ME, Letourneau-Freiberg LR, Naylor RN, Greeley SAW, Broome DT, Tosur M, Kreienkamp RJ, Cobry E, Rasouli N, Pollin TI, Udler MS, Billings LK, Desouza C, Evans-Molina C, Birz S, Furner B, Watkins M, Ott K, Volchenboum SL, Philipson LH.   +19 more
europepmc   +2 more sources

Multi‐omics–driven precision medicine

iMeta, EarlyView.
Multi‐omics‐driven precision medicine (MODPM) provides a multiscale, continuously learnable framework that integrates genomics, epigenomics, transcriptomics, proteomics, metabolomics, microbiome profiles, and clinical data. Powered by artificial intelligence and foundation models, MODPM enables cross‐modal representation learning, contextual modeling ...
Huibo Li, Zhe Zhao, Yifan Zhang, Yao Ma, Gaofei Hu, Min Zeng, Zhanqun Yang, Zixuan Zhao, Xin Zhou, Wei Hu, Yuxuan Sun, Meng Su, Jun Li, Matthew Whiteman, Wei Fu, Chao Zhong, Lemin Zheng, Long Chen, Hairong Lv, Rongsheng Zhao, Yi Zhun Zhu   +20 more
wiley   +1 more source

Genetic Biomarkers in the Risk Assessment of Sudden Cardiac Events: A Personalized Approach

iNew Medicine, EarlyView.
Genetic insights into the risk assessment of sudden cardiac events. ABSTRACT Sudden cardiac events are the leading cause of death worldwide. Conventional risk stratification methods, which largely depend on clinical history, imaging, and electrocardiography, are usually inadequate for identifying high‐risk individuals, especially those without visible ...
Shrikant Verma, Sushma Verma, Mohammad Abbas, Tabrez Faruqui, Bashir Ahmad Mir, Farzana Mahdi   +5 more
wiley   +1 more source

Genome Editing and Human Pluripotent Stem Cell Technologies for in vitro Monogenic Diabetes Modeling

Diabetes, Metabolic Syndrome and Obesity, 2022
Yosef Tsegaye Dabi,1,2 Sisay Teka Degechisa1,3 1Department of Medical Biochemistry, School of Medicine, College of Health Sciences, Addis Ababa University, Addis Ababa, Ethiopia; 2Department of Medical Laboratory Science, Wollega University, Nekemte ...
Dabi YT, Degechisa ST
doaj  

Precision Medicine in Neurodegeneration with Brain Iron Accumulation (NBIA) Disorders: An Update on Emerging Treatments

Movement Disorders Clinical Practice, EarlyView.
Abstract Background Neurodegeneration with Brain Iron Accumulation (NBIA) is a heterogeneous group of heritable, mostly recessive, progressive neurodegenerative diseases characterized by iron deposition in the basal ganglia and brainstem. There are no solid global epidemiological data on prevalence and incidence of NBIA subtypes, but registry data and ...
Susanne A. Schneider, Divyani Garg, Vassilena Iankova, Thomas Klopstock   +3 more
wiley   +1 more source

Type 1 Diabetes Genetic Risk Contributes to Phenotypic Presentation in Monogenic Autoimmune Diabetes

There is variability in early-onset autoimmune diabetes presentation in individuals with monogenic autoimmunity; the mechanism(s) underlying this is unclear.
Oram, Richard A., Roep, Bart O., Weedon, Michael N., Hawkes, Gareth, Hagopian, William A., Hawkes, G., De Franco, E., Weedon, M. N., De Franco, Elisa, Green, Harry D., Luckett, Amber M., Luckett, A. M., Johnson, Matthew B., EXE-T1D consortium, Oram, R. A., Roep, B. O., Johnson, M. B., Hagopian, W. A., Green, H. D.   +18 more
core   +1 more source

SLC7A6OS Founder Mutation: A Rare Cause of Progressive Myoclonus Epilepsy Dated to 1100 Years Ago

Movement Disorders, EarlyView.
Abstract Background SLC7A6OS c.191A>G is a rare, autosomal recessive cause of progressive myoclonus epilepsy (PME). The c.191A>G variant, first discovered in two families from Türkiye and Portugal, was recently identified in three additional probands from the USA, all of Puerto Rican ancestry.
Bronwyn E. Grinton, Colin A. Ellis, Mered Parnes, Laina Lusk Stripe, Jacob E. Munro, Laure Mazzola, Pamela P. McDonnell, Betül Baykan, Volkan Taşdemir, Mariam Hull, Krystal Sully, Sara Cabet, Anna‐Elina Lehesjoki, Nerses Bebek, Melanie Bahlo, Samuel F. Berkovic, Gaetan Lesca, Karen L. Oliver   +17 more
wiley   +1 more source