Ophthalmologic Findings in Congenital Generalized Lipodystrophy—A Possible Marker of Metabolic Disorders

Diabetes ◽  
2018 ◽  
Vol 67 (Supplement 1) ◽  
pp. 628-P
Author(s):  
VIRGINIA O. FERNANDES ◽  
LORENA M.A. GOMES ◽  
ANA PAULA D.R. MONTENEGRO ◽  
CLARISSE M.M. PONTE ◽  
LIVIA A.A. BATISTA ◽  
...  
Keyword(s):  
Metabolic Disorders ◽  
Congenital Generalized Lipodystrophy

scholarly journals A serendipitous discovery: an adult case of congenital generalized lipodystrophy

2020 ◽  
Vol 14 (1) ◽  
pp. 31-35
Author(s):  
Abdul Rehman Zia Zaidi ◽  
Asma Sikander ◽  
Eissa Faqeih ◽  
Njoud Abdulrahman Alhowar ◽  
Mohammed Abdullah AlSheef
Keyword(s):  
Metabolic Disorders ◽  
Acanthosis Nigricans ◽  
Novel Mutation ◽  
Subcutaneous Fat ◽  
High Density Lipoproteins ◽  
Adult Case ◽  
Rare Disorders ◽  
Congenital Generalized Lipodystrophy ◽  
Impaired Metabolism

Congenital generalized lipodystrophies are a heterogeneous group of rare disorders characterized by loss of subcutaneous fat, muscular hypertrophy, acanthosis nigricans, hepatomegaly, cardiac arrhythmias, impaired metabolism, and mental retardation. We report a 41-year-old female that presented as a rare adult case of congenital generalized lipodystrophy type 1. She was referred to us as a case of hypertriglyceridemia with features of generalized lipodystrophy and manifestations of associated multiple metabolic disorders. Triglyceride level was tremendously high with reduced high-density lipoproteins. The patient was found to have a pathogenic novel mutation in the AGPAT2 gene, confirming the diagnosis of congenital generalized lipodystrophy type 1.

Plasminogen Activation in Diabetes Mellitus: Normalization of Blood Sugar Levels Improves Impaired Enzyme Kinetics In Vitro

1985 ◽  
Vol 54 (02) ◽  
pp. 413-414 ◽  
Author(s):  
Margarethe Geiger ◽  
Bernd R Binder
Keyword(s):  
Plasminogen Activator ◽  
Blood Sugar ◽  
Metabolic Disorders ◽  
Normal Values ◽  
Diabetic Patients ◽  
Type I ◽  
Plasminogen Activation ◽  
Lag Period ◽  
Sugar Levels

SummaryWe have demonstrated previously that fibrin enhanced plasmin formation by the vascular plasminogen activator was significantly impaired, when components isolated from the plasma of three uncontrolled diabetic patients (type I) were used to study plasminogen activation in vitro. In the present study it can be demonstrated that functional properties of the vascular plasminogen activators as well as of the plasminogens from the same three diabetic patients are significantly improved after normalization of blood sugar levels and improvement of HbAlc values. Most pronounced the Km of diabetic vascular plasminogen activator in the presence of fibrin returned to normal values, and for diabetic plasminogen the prolonged lag period until maximal plasmin formation occurred was shortened to almost control values. From these data we conclude that the observed abnormalities of in vitro fibrinolysis are not primarily associated with the diabetic disease, but might be secondary to metabolic disorders caused by diabetes.

Clinical, morphological and biochemical signs of polymycotoxicosis in highly productive cows

2020 ◽  
pp. 14-17
Author(s):  
Irina A. Shkuratova ◽  
◽  
Lyudmila I. Drozdova ◽  
Aleksander I. Belousov ◽  
Keyword(s):  
Metabolic Disorders ◽  
Hepatorenal Syndrome ◽  
Morphological Changes ◽  
Clinical Manifestations ◽  
The Body ◽  
Feed Mixture ◽  
Milk Productivity ◽  
Structural Disorders ◽  
Increased Sensitivity ◽  
Penicillium Spp

Mycotoxicological monitoring of forages shows that the problem of mycotoxicosis has been relevant for several decades. Minimal doses of mycotoxins in feed lead to a decrease in milk productivity, increased sensitivity to infectious and non-infectious diseases. When several mycotoxins enter the body simultaneously, a synergistic effect develops, causing a significant increase in toxicity. Feed contaminated with several types of fungi and their toxins is dangerous for dairy cattle. It was found that the feed mixture contained the types of associations of Aspergillus spp. fungi + Fusarium; Aspergillus spp. + Penicillium spp. + Mucor spp; Fusarium + Penicillium; Mucor spp. + Fusarium + Ustilaginales. Pathogenetic features of metabolic and morphological changes in highly productive cows with polymycotoxicosis were studied. Feeding food contaminated with various metabolites of mold fungi leads to the development of signs of chronic toxemia in animals. Clinical manifestations are the development of diarrhea and dehydration, with a decrease in milk productivity. Metabolic disorders feature the development of an inflammatory process, metabolic acidosis, hyperfermentonemia, with an increase in the amount of creatinine and urea in the blood serum. Metabolic signs indicate the development of hepatorenal syndrome due to structural disorders of the liver and kidneys. Histological signs of polymicotoxicosis are intracapillary and hemorrhagic glomerulonephritis, hepatocyte micronecrosis, and proliferation of connective tissue stroma cells, which leads to the development of atrophic cirrhosis in the interstitial and circular phases.

STUDIES IN CONGENITAL GENERALIZED LIPODYSTROPHY

1973 ◽  
Vol 72 (3) ◽  
pp. 495-505 ◽  
Author(s):  
Oddmund Søvik ◽  
Svein Oseid
Keyword(s):  
Biological Activity ◽  
Insulin Response ◽  
Epididymal Adipose Tissue ◽  
Large Individual ◽  
Immunoreactive Insulin ◽  
List Type ◽  
Glucose Load ◽  
Congenital Generalized Lipodystrophy ◽  
The One

ABSTRACT The biological activity of plasma insulin from 4 cases of congenital generalized lipodystrophy has been studied, using rat diaphragm and epididymal adipose tissue in vivo. The results are compared with previous data on plasma immunoreactive insulin obtained in these patients. 2 of the 4 cases exhibited unusually high biological insulin activities during the fasting state as well as after an intravenous (iv) glucose load. In the fat pad assay activities as high as 10 000 μU insulin per ml were observed. During childhood the biological insulin activities were generally high, although there were large individual variations. However, in the one case studied after the age of puberty, the insulin response to a glucose load was negligible. Taken together, the biological and immunological activities observed strongly suggest the presence of pancreatic insulin in these patients. It appears that the circulating insulin has a fully biological activity. The decreasing insulin activities after cessation of growth are in agreement with the appearance of frank diabetes at this time.

STUDIES IN CONGENITAL GENERALIZED LIPODYSTROPHY (SEIP-BERARDINELLI SYNDROME)

1973 ◽  
Vol 72 (3) ◽  
pp. 475-494 ◽  
Author(s):  
Svein Oseid
Keyword(s):  
Insulin Resistance ◽  
Glucose Tolerance ◽  
Normal Glucose Tolerance ◽  
Juvenile Form ◽  
Congenital Generalized Lipodystrophy ◽  
Glucose Levels ◽  
Normal Glucose ◽  
Glucose Tolerance Tests ◽  
The One ◽  
Adipose Organ

ABSTRACT Six cases of congenital generalized lipodystrophy have been studied at different ages from infancy to adolescence with regard to glucose tolerance, insulin secretion, and insulin sensitivity. During the first few years of life there is normal glucose tolerance. The fasting immuno-reactive insulin (IRI) levels are either slightly elevated or normal. The IRI response to glucose is exaggerated and prolonged, at least from the third year of life. Some degree of insulin resistance is already present in infancy. From the age of 8–10 years glucose tolerance decreases rapidly. The fasting IRI levels are usually grossly elevated, while fasting plasma glucose levels are only moderately elevated or normal. The IRI responses to oral and iv administered glucose, and to tolbutamide are exaggerated; the insulinogenic indices are high. Cortisone primed glucose tolerance tests become abnormal. Insulin resistance is marked, and increases with age. After cessation of growth at approximately 12 years of age, frank diabetes with fasting hyperglycaemia and diabetic glucose tolerance curves developed in the one patient followed beyond this age. Her fasting IRI was increased, but there was a poor IRI response to glucose stimulation, suggesting a partial exhaustion of the β-cells. Her initial IRI response to tolbutamide was still good, but not as brisk as in the younger patients. This type of diabetes is quite different from the juvenile form, and also from the diabetes of older age. It may be causally related to the lack of an adequate adipose organ necessary for the disposal of excesses of glucose, or possibly related to another anti-insulin mechanism.

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