Results 41 to 50 of about 185,337,068 (295)

From Misdiagnosis to Precision: Genetic Testing Reveals MODY in Adolescents Initially Treated as Type 1 Diabetes [PDF]

Journal of Clinical and Diagnostic Research
Maturity-Onset Diabetes of the Young (MODY) is a heterogeneous form of clinical monogenic diabetes caused by genetic abnormalities resulting in an autosomal dominant mode of inheritance.
Kumar Ajith, Varalakshmi Sureka, J Jayannan, Purushothaman Indu   +3 more
doaj   +1 more source

Genotype, Phenotype, and Clinical Characteristics of Maturity-Onset Diabetes of the Young (MODY): Predominance of <i>GCK</i>-MODY [PDF]

J Clin Res Pediatr Endocrinol
Objective: Maturity-onset diabetes of the young (MODY) is a monogenic form of diabetes characterised by early-onset diabetes and inherited in an autosomal dominant manner.
Kayaş L, Akıncı A, Çamtosun E, Dündar İ, Çiftçi N, Esener Z, Tekedereli İ, Doğan M.   +7 more
europepmc   +2 more sources

Islet autoantibodies can discriminate maturity-onset diabetes of the young (MODY) from Type 1 diabetes

, 2011
AIM: Maturity-onset diabetes of the young is a monogenic form of familial, young-onset diabetes. It is rare (∼1% diabetes) and may be misdiagnosed as Type 1 diabetes and inappropriately treated with insulin.
Hattersley, AT, M. Shepherd, Shields, B, Shepherd, Maggie, Shields, Beverley, P. Bingley, Sian Ellard, A. Williams, McDonald, TJ, Bingley, P., Bingley, PJ, Williams, AJK, R. Brown, B. Shields, Hattersley, Andrew T., Brown, R. S., K. Colclough, Colclough, K, A. T. Hattersley, Williams, A. J., Brown, R, Colclough, K., T. J. McDonald, Ellard, S, Ellard, Sian, Shepherd, M, McDonald, Timothy J.   +26 more
core   +1 more source

Maturity-Onset Diabetes of the Young (MODY)

The Journal of Korean Diabetes, 2022
Precision medicine, which optimizes diagnosis and treatment of diseases according to individualized characteristics, is becoming a reality in the field of diabetes, especially for monogenic diabetes. Maturityonset diabetes of the young (MODY) is a type of monogenic diabetes characterized by early onset, relative non-obesity, non-insulin dependence, and
Seung Shin Park, Soo Heon Kwak
openaire   +1 more source

Diazoxide-responsive hyperinsulinemic hypoglycemia caused by HNF4A gene mutations [PDF]

, 2010
Objective: The phenotype associated with heterozygous HNF4A gene mutations has recently been extended to include diazoxide responsive neonatal hypoglycemia in addition to maturity-onset diabetes of the young (MODY).
Shield, JPH, Kapoor, RR, Hussain, K., Rubio-Cabezas, O., Kapoor, R. R., Banerjee, I, Sianhanidou, T, Siahanidou, T., Flanagan, SE, Akcay, T, Akcay, T., Cody, D., Hussain, K, Ellard, S., Mali, G, Cody, D, Shield, J. P. H., Rubio-Cabezas, O, Mali, G., Schwahn, B., Flanagan, S. E., Murphy, N, Murphy, N., Banerjee, I., Ellard, S, Schwahn, B   +25 more
core   +1 more source

Impact of Radiation Therapy on Physical and Psychosocial Health of Adolescents and Young Adults: A Joint Report From the Children's Oncology Group AYA and Radiation Oncology Committees

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Rates of cancer among adolescents and young adults (AYA), age 15–39 years, are increasing. Consequently, radiation oncologists are treating more AYAs who have diagnoses spanning both pediatric and adult practices. Compared to pediatric and older adult patients, AYAs face a unique set of challenges.
Hesham Elhalawani, Rachel K. Peterson, Avani D. Rao, Laurie J. McKenzie, Ahmed Magdy Elmotayam, Leslie Chang, Michael Roth, Susan L. McGovern   +7 more
wiley   +1 more source

Autophagy and mitophagy in pancreatic β‐cell homeostasis and their involvement in diabetes pathophysiology

FEBS Letters, EarlyView.
This review focuses on the role of autophagy and mitophagy in maintaining pancreatic β‐cell function and homeostasis. We discuss how genetic defects affecting these pathways contribute to the development of type 1, type 2, monogenic, and gestational diabetes. We further explore their potential as therapeutic targets. Created in BioRender.
Yunkyeong Lee, Mingming Tong, Anna L. Gloyn   +2 more
wiley   +1 more source

Treatment implications of a delayed diagnosis of maturity-onset diabetes of the young

, 2021
Maturity-onset diabetes of the young (MODY) is a rare form of monogeneic diabetes that classically presents as non-insulin requiring diabetes with evidence of autosomal dominant inheritance in individuals who are typically young and lean.
Brown, F, Ekinci, EI, Ali, AS
core   +1 more source

Chronobiology of Cancer: How Aging Fuels Oncogenesis at the Molecular Level

Aging and Cancer, EarlyView.
This graphical abstract illustrates the key biological pathways linking aging with cancer development and progression. In the upper left, cumulative exposure to ultraviolet radiation, toxins, and reactive oxygen species (ROS) causes DNA damage and genomic instability, whereas age‐related decline in repair mechanisms, such as ATM/ATR, BER, and NER ...
Anu Singh, Aroonima Misra, Sufian Zaheer
wiley   +1 more source

Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach, Sandra Donkervoort, Carola Hedberg‐Oldfors, Giovanni Baranello, Dimah Saade, Precilla D'Souza, Ruchee Patel, Eva Michael, A. Reghan Foley, Diana Bharucha‐Goebel, S. Jin Haugland, Meghan McAnally, Omer Abdul Hamid, Katherine Chao, Ellen F. Macnamara, Alan H. Beggs, Anna Sarkozy, Juliane Mueller, Steven A. Moore, Richard S. Finkel, Cynthia J. Tifft, Francesco Muntoni, Anders Oldfors, Carsten G. Bönnemann   +23 more
wiley   +1 more source