Results 41 to 50 of about 1,062,540 (244)

Monitoring of Individual Needs in Diabetes (MIND): baseline data from the Cross-National Diabetes Attitudes, Wishes, and Needs (DAWN) MIND study. [PDF]

, 2011
OBJECTIVE: To test the feasibility and impact of implementing the computer-assisted Monitoring of Individual Needs in Diabetes (MIND) procedure, which is aimed at improving recognition and management of the psychological needs of diabetic patients in ...
Matthews, David R., Eldrup, Ebbe, Kokoszka, A, Hermanns, N, Skovlund, Søren E., McGuire, B. E., Norbert Hermanns, Kokoszka, A., de Wit, M, Brian E. McGuire, Snoek, F. J., Ebbe Eldrup, Snoek, FJ, Singer, Joelle, Kersch, N. Y. A., Matthews, David, Kersch, Nancy Y. A., Ilana Harman-Boehm, de Wit, M., Skovlund, SE, de Wit, Maartje, Hermanns, N., Andrzej Kokoszka, Skovlund, S. E., Harman-Boehm, I, Søren E. Skovlund, Pibernik-Okanovic, M, Kersch, Nancy Y.A., Pibernik-Okanovic, Mirjana, Frank J. Snoek, Singer, J, Nancy Y.A. Kersch, Mirjana Pibernik-OkanoviĆ, Pibernik-Okanovic, M., Matthews, David R, Kersch, N.Y.A., Singer, J., McGuire, Brian E., Snoek, F.J., Snoek, Frank, Harman-Boehm, I., Maartje de Wit, Skovlund, S.E., Hermanns, Norbert, David R. Matthews, McGuire, BE, Joelle Singer, Harman-Boehm, Ilana, Eldrup, E., Matthews, DR, Matthews, D.R., Kersch, NY, Eldrup, E, Matthews, D. R., Snoek, Frank J, Kokoszka, Andrzej, Snoek, Frank J., McGuire, B.E.   +57 more
core   +1 more source

Monogenic forms of diabetes

, 2023
Monogenic diabetes is a term used to describe a group of single-gene causes of diabetes. Traditional nomenclature has focused on the types of diabetes known as MODY, defined as maturity-onset diabetes of the young; infantile (or perinatal ...
Salguero, Maria V, Arosemena, Marilyn, et al,, Pollin, Toni   +3 more
core   +3 more sources

The Etiological Diagnosis of Diabetes: Still a Challenge for the Clinician

Endocrines, 2023
The etiological diagnosis of diabetes conveys many practical consequences for the care of patients, and often of their families. However, a wide heterogeneity in the phenotypes of all diabetes subtypes, including Type 1 diabetes, Type 2 diabetes, and ...
Danièle Dubois-Laforgue, José Timsit
doaj   +1 more source

Approach to the Patient with MODY-Monogenic Diabetes

The Journal of Clinical Endocrinology & Metabolism, 2020
AbstractMaturity-onset diabetes of the young, or MODY-monogenic diabetes, is a not-so-rare collection of inherited disorders of non-autoimmune diabetes mellitus that remains insufficiently diagnosed despite increasing awareness. These cases are important to efficiently and accurately diagnose, given the clinical implications of syndromic features, cost-
David T Broome, Kevin M Pantalone, Sangeeta R Kashyap, Louis H Philipson   +3 more
openaire   +3 more sources

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

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy

Metabolism Open, 2022
Aims: To investigate the prevalence of pathogenic variants in monogenic diabetes genes in Emirati women with gestational diabetes (GDM) and examine the risk of developing hyperglycemia during follow-up in carriers and non-carriers.
Hinda Daggag, Anette P. Gjesing, Alshafi Mohammad, Lars Ängquist, Bindu Shobi, Suma Antony, Dalia Haj, Alia Al Tikriti, Adam Buckley, Torben Hansen, Maha T. Barakat   +10 more
doaj   +1 more source

An Adult Presentation of KIF11‐Related MCLID Syndrome: Case Report and 40‐Year Follow‐Up

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Pathogenic variants in KIF11 are linked to autosomal dominant syndromes with microcephaly, chorioretinopathy, lymphedema, and intellectual disability (MCLID), though adult presentations remain underreported. We report a 42‐year‐old female presenting with a de novo single‐amino acid in‐frame deletion in the KIF11 gene (c.1294_1296del; p ...
Thrishna Chathurvedula, Juvy Rabelas, Kareem Touleimat, Elaine Marchi, Ruhi Shah, Shaydah Kheradmand, Kuldeep Singh, Karen Amble, Gholson J. Lyon   +8 more
wiley   +1 more source

Monogenic Forms of Obesity and Diabetes Mellitus

Journal of Pediatric Endocrinology and Metabolism, 2002
Great progress has been made in identifying several genes and in understanding the molecular pathogenesis of inherited syndromes of obesity and diabetes mellitus (DM). In humans, mutations in leptin, leptin receptor, proopiomelanocortin (POMC), melanocortin-4 receptor (MC4R) and prohormone convertase 1 (PC1) have been described in patients with severe ...
Tsigos, C., Kyrou, I., Raptis, S.A.
openaire   +3 more sources

A Rare Form of Microcephalic Primordial Dwarfism due to NSMCE2 Deficiency (Seckel Syndrome Type 10): A Report of Macular Involvement

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Biallelic variants in NSMCE2 (MMS21), which encodes the SUMO E3 ligase subunit of the SMC5/6 chromatin‐maintenance complex, have recently been implicated in microcephalic primordial dwarfism (MPD), corresponding to Seckel syndrome type 10 (OMIM #617246).
Cristina Peduto, Céline Huber, Clément Paya, Isabelle Audo, Nathalie Boddaert, Valérie Cormier‐Daire   +5 more
wiley   +1 more source

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