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1.
Cureus ; 14(11): e31532, 2022 Nov.
Artigo em Inglês | MEDLINE | ID: mdl-36540507

RESUMO

Diabetes mellitus in recent years has become a relentlessly evolving pandemic. Measures for the screening and early detection of diabetes are practiced all around the world. However, considering the ever-increasing magnitude of the problem, the present efforts should especially focus on the primordial prevention of diabetes. A ray of hope for preventing the development of diabetes in an individual arises from the concept that many adult-onset diseases have already been programmed while the individual was still in-utero. In women with hyperglycemia-in-pregnancy, maternal hyperglycemia results in fetal hyperinsulinemia, which leads to increased adiposity in the fetus, and insulin resistance and diabetes in adulthood. We have ventured to point out that the fetal beta-cells start secreting insulin at 10-11 weeks of pregnancy and fetal hyperinsulinemia persists with maternal hyperglycemia, in a pregnant woman who would develop gestational diabetes. Considering the fetal glucose-steal phenomenon and the fetal renal threshold for glucose, we have suggested a two-hour post-prandial blood-glucose (PPBG) value of >110 mg/dL as the cut-off for the prediction of gestational diabetes in the early weeks of pregnancy. Furthermore, we have emphasized the use of metformin in addition to medical nutrition therapy in the early weeks to maintain PPBG around 110 mg/dL to prevent gestational diabetes. In this paper, we recommend early, universal screening of all pregnant women during the early weeks of the first trimester and put forward that a two-hour PPBG of >110 mg/dl during the 8th-10th week of pregnancy would predict the risk of gestational diabetes in the pregnant woman. We suggest early testing and intervention to prevent the development of fetal hyperinsulinemia as a primordial prevention approach for diabetes.

2.
J R Coll Physicians Edinb ; 45(1): 33-7, 2015 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-25874828

RESUMO

Alström syndrome is a rare ciliopathy affecting about 1 in 1,000,000 individuals. It is characterised by cone-rod dystrophy, insulin resistance, diabetes mellitus, cardiomyopathy, renal failure and hypogonadism. Progressive multi-organ dysfunction eventually leads to death. Only about 800 patients with this disorder have been identified so far. The diagnosis of Alström syndrome is critical as it can easily be overlooked because of the many features it shares with metabolic syndrome. The gene affected in this autosomal recessive disease is ALMS1, the protein product of which is involved in intracellular trafficking and ciliary function. Alström syndrome is being studied as a model which would potentially shed light on the pathophysiology of diabetes mellitus. In this report, we describe a patient with features of Alström syndrome and a clinical picture suggestive of a recurrent, severe, steroid responsive myopathy which, to the best of our knowledge, has not been reported so far.


Assuntos
Síndrome de Alstrom/diagnóstico , Cãibra Muscular/etiologia , Adolescente , Síndrome de Alstrom/complicações , Síndrome de Alstrom/genética , Proteínas de Ciclo Celular , Diabetes Mellitus/etiologia , Ginecomastia/etiologia , Humanos , Masculino , Mutação , Proteínas/genética , Retinose Pigmentar/etiologia
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