Monogenic diabetes

A Bonnefond, R Unnikrishnan, A Doria… - Nature Reviews …, 2023 - nature.com
Monogenic diabetes includes several clinical conditions generally characterized by early-
onset diabetes, such as neonatal diabetes, maturity-onset diabetes of the young (MODY) …

Thiamine deficiency in pregnancy and lactation: implications and present perspectives

O Kareem, S Nisar, M Tanvir, U Muzaffer… - Frontiers in …, 2023 - frontiersin.org
During pregnancy, many physiologic changes occur in order to accommodate fetal growth.
These changes require an increase in many of the nutritional needs to prevent long-term …

The relevance of thiamine evaluation in a practical setting

F Pacei, A Tesone, N Laudi, E Laudi, A Cretti, S Pnini… - Nutrients, 2020 - mdpi.com
Thiamine is a crucial cofactor involved in the maintenance of carbohydrate metabolism and
participates in multiple cellular metabolic processes. Although thiamine can be obtained …

Wernicke's encephalopathy—From basic science to clinical practice. Part 1: Understanding the role of thiamine

M Ott, U Werneke - Therapeutic Advances in …, 2020 - journals.sagepub.com
Wernicke's encephalopathy (WE) is an acute neuropsychiatric state. Untreated, WE can lead
to coma or death, or progress to Korsakoff syndrome (KS)–a dementia characterized by …

[HTML][HTML] Venous thromboembolism-related genetic determinant F11 rs4253417 is a potential prognostic factor in ischaemic stroke

V Tavares, J Assis, R Pinto, M Freitas-Silva… - Molecular and Cellular …, 2023 - Elsevier
Ischaemic stroke (IS) and venous thromboembolism (VTE) are two forms of
thromboembolism that, although distinct, seem to share numerous risk factors. Concerning …

The application of precision medicine in monogenic diabetes

F Barbetti, N Rapini, R Schiaffini, C Bizzarri… - Expert Review of …, 2022 - Taylor & Francis
Introduction Monogenic diabetes, a form of diabetes mellitus, is caused by a mutation in a
single gene and may account for 1–2% of all clinical forms of diabetes. To date, more than …

Diabetes Out-of-the-Box: Diabetes Mellitus and Impairment in Hearing and Vision

N Gruber, O Pinhas-Hamiel - Current Diabetes Reports, 2022 - Springer
Abstract Purposeof Review This review aims to provide an update on the etiologies of
diabetes that are due to genetic disorders and that co-occur with impaired hearing or vision …

Genetic syndromes with diabetes: a systematic review

D Shi, M Motamed, A Mejía‐Benítez, L Li, E Lin… - Obesity …, 2021 - Wiley Online Library
Previous reviews and clinical guidelines have identified 10–20 genetic syndromes
associated with diabetes, but no systematic review has been conducted to date. We provide …

Loss of Mir146b with aging contributes to inflammation and mitochondrial dysfunction in thioglycollate-elicited peritoneal macrophages

A Santeford, AY Lee, A Sene, LM Hassman… - Elife, 2021 - elifesciences.org
Macrophages undergo programmatic changes with age, leading to altered cytokine
polarization and immune dysfunction, shifting these critical immune cells from protective …

Gain of function of malate dehydrogenase 2 and familial hyperglycemia

P Jungtrakoon Thamtarana, A Marucci… - The Journal of …, 2022 - academic.oup.com
Context Genes causing familial forms of diabetes mellitus are only partially known. Objective
We set out to identify the genetic cause of hyperglycemia in multigenerational families with …