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Your search keyword '"E. Ricart Álvarez"' showing total 2 results
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2 results on '"E. Ricart Álvarez"'

1. Esteatosis hepática asociada a hipobetalipoproteinemia familiar heterocigótica. Presentación de un caso

Author

M. Navarro Hervás, B. Alapont Puchalt, M. Prósper Sierra, and E. Ricart Álvarez

Subjects
medicine.medical_specialty, Hepatology, Apolipoprotein B, biology, medicine.diagnostic_test, business.industry, Fatty liver, Gastroenterology, Type 2 Diabetes Mellitus, medicine.disease, Asymptomatic, Transaminase, Excretion, Endocrinology, Internal medicine, Hyperlipidemia, medicine, biology.protein, lipids (amino acids, peptides, and proteins), medicine.symptom, business, Lipid profile
Abstract

Fatty liver disease is now recognized as a major health burden, due to the greater number of cases that are being diagnosed. This trend could partly be explained by the increased use of liver ultrasonography in asymptomatic patients for various reasons, mainly persistent transaminase elevation. The most commonly reported risk factors associated with fatty liver disease are chronic alcohol intake, obesity, type 2 diabetes mellitus, hyperlipidemia, and some drugs. When these factors have been ruled out in a patient with a fatty liver, less frequent causes such as certain inherited metabolic disorders should be considered. Familial hypobetalipoproteinemia is characterized by an alteration of apolipoprotein B (apo B) synthesis, leading to the secretion of truncated forms of the protein, which in turn leads to a marked reduction in excretion of very low-density lipoproteins from the liver and consequently to lipid deposits, especially triglycerides, in the hepatocytes. We report the case of a 23-year-old man who met the diagnostic criteria for heterozygous familial hypobetalipoproteinemia. He presented with mild transaminase elevation and fatty liver. Total cholesterol, low-density lipoprotein cholesterol, very low-density lipoprotein cholesterol and apo B were below normal limits, while levels of high-density lipoprotein cholesterol were normal. Lipid profile determination and liver ultrasonography of first and second-degree relatives were also performed. Molecular studies of the index case revealed an unaffected apo B gene.

Published
2004
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2. Two cases of Cushing's syndrome due to primary bilateral macronodular adrenal hyperplasia secondary to aberrant adrenal expression of hormone receptors.

Author

Juliá-Sanchis MLL, Navarro-Téllez MDP, Falcones-Gracia KV, Ricart-Álvarez E, González-Bueno MV, and Molina-Gasset R

Subjects
Adrenal Glands metabolism, Adrenal Glands pathology, Adrenocorticotropic Hormone, Aged, Cushing Syndrome diagnosis, Cushing Syndrome physiopathology, Female, Humans, Hydrocortisone metabolism, Hypogonadism metabolism, Male, Middle Aged, Receptors, Corticotropin metabolism, Cushing Syndrome metabolism
Abstract

Objectives: Primary bilateral macronodular adrenal hyperplasia is an uncommon cause of endogenous Cushing's syndrome characterized by the presence of aberrant adrenal expression of ectopic receptors that regulate steroidogenesis by mimicking the events triggered by ACTH receptor activation. Receptors of this type have been described for several hormones. The aim of the study is to detect these receptors in two patients with ACTH-independent hypercortisolism by means of the application of a screening protocol., Design and Methods: A protocolized study of aberrant receptors was performed including measurements of ACTH, cortisol and other steroids and hormones. Upright posture test, mixed food and administration of Gonadotropin-Releasing Hormone (GnRH) were used as stimuli. In both patients, a stimulation test with intravenous ACTH was conducted to determinate the cortical response capacity. The study was carried out in three separate days., Results: The first patient, who had a hypergonadotropic hypogonadism, presented anomalous cortisol response to the GnRH stimulation, with potential medical treatment by the use of exogenous testosterone. In the second case, the patient with clinical Cushing's syndrome presented anomalous cortisol response to standing, whose potential medical treatment would be the use of beta-blockers., Conclusions: This etiological variant of ACTH-independent Cushing's syndrome leads to the use of specific pharmacologic therapies in some cases as alternatives to adrenalectomy. The studied cases show the importance of having a high degree of suspicion when diagnosing less frequent types of Cushing's syndrome., (Copyright © 2018 The Canadian Society of Clinical Chemists. Published by Elsevier Inc. All rights reserved.)

Published
2018
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