Results 51 to 60 of about 1,130,327 (225)

Megaloblastic anaemia in infancy or early childhood and diabetes as leading symptoms of the TRMA syndrome [PDF]

Pediatric Endocrinology, Diabetes and Metabolism, 2012
Diabetes mellitus may occur in children and adolescents as an independent disease, most frequently as autoimmune type 1 diabetes, or can coexist with other abnormalities. If diabetes coincides with other disorders occurring sequentially, a syndromic form
Agnieszka Zmysłowska, Wojciech Młynarski   +1 more
doaj  

Considerations for drug trials in hypertrophic cardiomyopathy

ESC Heart Failure, Volume 12, Issue 2, Page 1095-1112, April 2025.
Abstract Hypertrophic cardiomyopathy (HCM) is a heterogeneous condition with potentially serious manifestations. Management has traditionally comprised therapies to palliate symptoms and implantable cardioverter‐defibrillators to prevent sudden cardiac death. The need for disease‐modifying therapies has been recognized for decades.
John P. Farrant, Matthias Schmitt, Anna B. Reid, Clifford J. Garratt, William G. Newman, Aneil Malhotra, Rhys Beynon, Masliza Mahmod, Betty Raman, Robert M. Cooper, Dana Dawson, Thomas Green, Sanjay K. Prasad, Anvesha Singh, Susanna Dodd, Hugh Watkins, Stefan Neubauer, Christopher A. Miller   +17 more
wiley   +1 more source

Premature coronary artery disease and severe hypertriglyceridemia in a patient with monogenic diabetes: a case report

Кардиоваскулярная терапия и профилактика, 2023
Aim. Maturity- onset diabetes of the young (MODY) is a group of monogenic diseases with an autosomal dominant inheritance. This is a rarely diagnosed disease, occurring in 1 of 10 thousand adults and in 1 of 23 thousand children. Brief description.
V. I. Mikhailina, A. N. Meshkov, A. V. Kiseleva, A. I. Ershova, M. Zaichenoka, E. S. Luboyatnikova, M. S. Pokrovskaya, O. M. Drapkina   +7 more
doaj   +1 more source

Neonatal diabetes mellitus around the world: Update 2024

Journal of Diabetes Investigation
Neonatal diabetes mellitus (NDM), defined as diabetes with an onset during the first 6 months of life, is a rare form of monogenic diabetes. The initial publications on this condition began appearing in the second half of the 1990s and quite surprisingly,
Fabrizio Barbetti, Asma Deeb, Shigeru Suzuki   +2 more
doaj   +1 more source

Young‐onset diabetes patients in Thailand: Data from Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN)

Journal of Diabetes Investigation, 2022
Aims/Introduction There is a lack of current information regarding young‐onset diabetes in Thailand. Thus, the objectives of this study were to describe the types of diabetes, the clinical characteristics, the treatment regimens and achievement of ...
Prapai Dejkhamron, Jeerunda Santiprabhob, Supawadee Likitmaskul, Chaicharn Deerochanawong, Petch Rawdaree, Thipaporn Tharavanij, Sirimon Reutrakul, Chawkaew Kongkanka, Chittiwat Suprasongsin, Nawaporn Numbenjapon, Taninee Sahakitrungruang, Raweewan Lertwattanarak, Pontipa Engkakul, Apiradee Sriwijitkamol, Manassawee Korwutthikulrangsri, Rattana Leelawattana, Mattabhorn Phimphilai, Somkiat Potisat, Panthep Khananuraksa, Kemarasami Kunsuikmengrai, Wannee Nitiyanant, for the Thai Type 1 Diabetes and Diabetes diagnosed Age before 30 years Registry, Care and Network (T1DDAR CN)   +21 more
doaj   +1 more source

Achievements, Prospects and Challenges in Precision Care for Monogenic Insulin Deficient and Insulin Resistant Diabetes [PDF]

, 2022
Integration of genomic and other data has begun to stratify type 2 diabetes in prognostically meaningful ways, but this has yet to impact on mainstream diabetes practice.
Bonnefond, Amélie, Semple, Robert K., Semple, Robert K; id_orcid, Semple, Robert, Robert K. Semple, Amélie Bonnefond   +5 more
core   +1 more source

Pregnancy‐ and lactation‐associated osteoporosis: A position statement of the IAPM, IOF, ECTS, ESCEO, IMS, and EMAS

International Journal of Gynecology &Obstetrics, EarlyView.
Abstract Pregnancy‐ and lactation‐associated osteoporosis (PLO) is a syndrome characterized by fragility fractures (most commonly vertebral, often multiple) occurring in late pregnancy or the early postpartum period. This position statement summarizes the current knowledge of PLO, and the recommended procedure for assessment, diagnosis and treatment ...
Peyman Hadji, Apostolos Athanasiadis, Maria‐Luisa Brandi, Marlene Chakhtoura, Manju Chandran, Frank Chervenak, Amos Grünebaum, Irene Lambrinoudaki, Willem F. Lems, Apostolos M. Mamopoulos, Eugene McCloskey, Rossella E. Nappi, Jessica Pepe, Jean‐Yves Reginster, René Rizzoli, Petra Stute, Şansın Tuzun, Amanda J. Vincent, Maria Belen Zanchetta, M. Carola Zillikens, Ioannis Kyvernitakis   +20 more
wiley   +1 more source

The first case of NEUROD1‐MODY reported in Latin America

Molecular Genetics & Genomic Medicine, 2019
Background MODY‐NEUROD1 is a rare form of monogenic diabetes caused by mutations in Neuronal differentiation 1 (NEUROD1). Until now, only a few cases of MODY‐NEUROD1 have been reported worldwide and the real contribution of mutations in NEUROD1 in ...
Gabriella de Medeiros Abreu, Roberta Magalhães Tarantino, Pedro Hernan Cabello, Verônica Marques Zembrzuski, Ana Carolina Proença daFonseca, Melanie Rodacki, Lenita Zajdenverg, Mário Campos Junior   +7 more
doaj   +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

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred

Frontiers in Endocrinology, 2018
Background: Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the LMNA gene that results in regional loss of subcutaneous adipose tissue with onset in puberty.
Renan Magalhães Montenegro, Aline Dantas Costa-Riquetto, Virgínia Oliveira Fernandes, Ana Paula Dias Rangel Montenegro, Lucas Santos de Santana, Alexander Augusto de Lima Jorge, Lia Beatriz de Azevedo Souza Karbage, Lindenberg Barbosa Aguiar, Francisco Herlânio Costa Carvalho, Milena Gurgel Teles, Catarina Brasil d'Alva   +10 more
doaj   +1 more source