Monogenic Mole Polyendocri
نویسندگان
چکیده
3 " If we were not able or did not desire to look in any new direction, if we did not have a doubt or recognize ignorance, we would not get any new ideas. There would be nothing worth checking, because we would know what is true. So what we call scientific knowledge today is a body of statements of varying degrees of certainty. Some of them are most unsure; some of them are nearly sure; but none is absolutely certain. Scientists are used to this. We know that it is consistent to be able to live and not know. Some people say, " How can you live without knowing? " I do not know what they mean. I always live without knowing. That is easy. How you get to know is what I want to know. " Richard Feynman, The meaning of it all
منابع مشابه
Classification of Monogenic Ternary Semigroups
The aim of this paper is to classify all monogenic ternary semigroups, up to isomorphism. We divide them to two groups: finite and infinite. We show that every infinite monogenic ternary semigroup is isomorphic to the ternary semigroup O, the odd positive integers with ordinary addition. Then we prove that all finite monogenic ternary semigroups with the same index...
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OBJECTIVE Monogenic diabetes, a young-onset form of diabetes, is often misdiagnosed as type 1 diabetes, resulting in unnecessary treatment with insulin. A screening approach for monogenic diabetes is needed to accurately select suitable patients for expensive diagnostic genetic testing. We used C-peptide and islet autoantibodies, highly sensitive and specific biomarkers for discriminating type ...
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A lthough monogenic neonatal diabetes may be caused by mutations in .20 different genes, the most common are activating heterozygous mutations in KCNJ11, encoding the Kir6.2 subunit of the ATP-sensitive K channel (KATP channel), which is highly expressed in pancreatic b-cells and brain (1). Mutated KATP channels typically have decreased sensitivity to ATP inhibition, hampering insulin secretion...
متن کاملTwo Cases of Diabetic Ketoacidosis in HNF1A-MODY Linked to Severe Dehydration
OBJECTIVE Hepatocyte nuclear factor-1A maturity-onset diabetes of the young (HNF1A-MODY) is a monogenic form of diabetes caused by heterozygous mutations in HNF1A. Currently, a history of diabetic ketoacidosis (DKA) is an exclusion criterion for genetic testing for MODY. HISTORY AND EXAMINATION In this article, we describe two unrelated patients aged 17 and 24 years with severe DKA developed ...
متن کاملGenes Predisposing to Monogenic, Polygenic, and Syndromic Obesity: A Review of Current Trends and Prospects for Standard Obesity Genetic Testing
Objective: The burden of obesity is currently enormous, necessitating a novel strategy to complement the existing ones. Accordingly, genetic predisposition is suspected in many cases of the disease, which can potentially be used as therapeutic targets. However, there are differing viewpoints on the suspect genes, prompting the current review to articulate the genes and their mechanisms. Eight (...
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