A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles.

A case of generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement with short and long-term monitoring of the metabolic and endocrine profiles. Endocr J. 2019 Nov 08;: Authors: Fukaishi T, Minami I, Masuda S, Miyachi Y, Tsujimoto K, Izumiyama H, Hashimoto K, Yoshida M, Takahashi S, Kashimada K, Morio T, Kosaki K, Maezawa Y, Yokote K, Yoshimoto T, Yamada T Abstract We herein report a case of a 28-year-old man with generalized lipodystrophy-associated progeroid syndrome treated by leptin replacement. He showed symptoms of generalized lipodystrophy around onset of puberty. His body mass index was 11.9 kg/m2, and he had a short stature, birdlike facies, dental crowding due to micrognathia, partial graying and loss of hair, and a high-pitched voice, all of which are typical features of the progeroid syndrome. Laboratory examinations and abdominal ultrasonography revealed diabetes mellitus, insulin-resistance, dyslipidemia, decreased serum leptin levels (2.2 ng/mL), elevated serum hepatobiliary enzyme levels and fatty liver. Whole exome sequencing revealed de novo heterozygous LMNA p.T10I mutation, indicating generalized lipodystrophy-associated progeroid syndrome, which is a newly identified subtype of atypical progeroid syndrome characterized by severe metabolic abnormalities. Daily injection of metreleptin [1.2 mg (0.04 mg/kg)/day] was started. Metreleptin treatment significantly improved his diabetes from HbA1c 11.0% to 5.4% in ...
Source: Endocrine Journal - Category: Endocrinology Tags: Endocr J Source Type: research

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DiscussionThis overview will assess current evidence from systematic reviews for the association between cadmium exposure and risk of T2DM and other metabolic morbidities. This overview may be helpful for policy-makers and healthcare teams aiming to mitigate T2DM risk in populations at risk of cadmium exposure.Systematic review registrationPROSPERO CRD42019125956
Source: Systematic Reviews - Category: International Medicine & Public Health Source Type: research
Conclusion HBV-infection increased significantly the risk for cirrhosis among T2DM patients, however, not beyond the expected incremental risk among infected non-T2DM subjects. Our approach to evaluate the role of T2DM/NAFLD and HBV-infection in liver disease progression could be applied to other settings with higher HBV prevalence.
Source: European Journal of Gastroenterology and Hepatology - Category: Gastroenterology Tags: Original Articles: Hepatology Source Type: research
Conclusions. In this largest nonregistry study, patients with Pre-DM and PTDM share similar baseline clinical characteristics. Pre-DM increases the risk of ESRD and mCVE; however, patient survival was comparable to those with PTDM and without diabetes. Understanding the impact of PTDM would need prolonged follow-up.
Source: Transplantation - Category: Transplant Surgery Tags: Original Clinical Science—Liver Source Type: research
This study explored the proportion of NAFLD cases and increased liver fibrosis (LF), and the association between LF and either chronic kidney disease (CKD) or cardiovascular complications in T2DM patients. METHODS: - The study included 137 patients with non-insulin-treated T2DM and no known liver disease consecutively attending our diabetes outpatients service who underwent liver ultrasonography and liver stiffness measurement (LSM) using vibration-controlled transient elastography (FibroScan®). RESULTS: - The proportion of patients with hepatic steatosis on ultrasonography was 73.7%, and the proportion with ...
Source: Diabetes and Metabolism - Category: Endocrinology Authors: Tags: Diabetes Metab Source Type: research
AbstractObesity and elevated serum lipids are associated with a threefold increase in the risk of developing atherosclerosis, a condition that underlies stroke, myocardial infarction, and sudden cardiac death. Strategies that aim to reduce serum cholesterol through modulation of liver enzymes have been successful in decreasing the risk of developing atherosclerosis and reducing mortality. Statins, which inhibit cholesterol biosynthesis in the liver, are considered among the most successful compounds developed for the treatment of cardiovascular disease. However, recent debate surrounding their effectiveness and safety prom...
Source: Biology of Sex Differences - Category: Biology Source Type: research
Conclusion: The present study demonstrated an association between fibrosis, a finding of worse prognosis in patients with NAFLD, and moderate to severe OSA, regardless of obesity.
Source: European Respiratory Journal - Category: Respiratory Medicine Authors: Tags: Sleep and control of breathing Source Type: research
Authors: Xiong Q, Liu J, Xu Y Abstract With the deepening of the researches on uric acid, especially in the study of metabolic diseases, uric acid has been found to be closely related to obesity, metabolic syndrome, nonalcoholic fatty liver disease, diabetes, and other metabolic diseases. Uric acid causes a series of pathophysiological changes through inflammation, oxidative stress, vascular endothelial injury, and so on and thus subsequently promotes the occurrence and development of diseases. This review confirmed the positive correlation between uric acid and diabetes mellitus and its chronic complications throu...
Source: International Journal of Endocrinology - Category: Endocrinology Tags: Int J Endocrinol Source Type: research
AR, López-Hernández Y Abstract Chronic exposure to arsenic (As), whether directly through the consumption of contaminated drinking water or indirectly through the daily intake of As-contaminated food, is a health threat for more than 150 million people worldwide. Epidemiological studies found an association between chronic consumption of As and several pathologies, the most common being cancer-related disorders. However, As consumption has also been associated with metabolic disorders that could lead to diverse pathologies, such as type 2 diabetes mellitus, nonalcoholic fatty liver disease, and obesi...
Source: Biomed Res - Category: Research Authors: Tags: Biomed Res Int Source Type: research
Conclusion: This study showed that smoking was closely associated with liver fibrosis among the patients with NAFLD. For patients with NAFLD who smoke, priority screening and timely intervention should be provided if they are at risk of liver fibrosis. PMID: 31737583 [PubMed - in process]
Source: Canadian Journal of Gastroenterology - Category: Gastroenterology Tags: Can J Gastroenterol Hepatol Source Type: research
Premalatha Pushpanathan, Gifty Sara Mathew, Sribal Selvarajan, Krishna G Seshadri, Padma SrikanthIndian Journal of Medical Microbiology 2019 37(2):268-277 Gut microbiota are microorganisms that inhabit the gut; they coexist peacefully with the host, thereby contributing to the health and well-being of individuals. Bacteroidetes and Firmicutes largely dominate the gut microbial flora. The intestinal flora promotes intestinal mucosal integrity, provides essential nutrients such as vitamins and enzymes, protects the body against pathogens and produces antimicrobial peptides such as defensins, C-type lectins, cathelicidins, t...
Source: Indian Journal of Medical Microbiology - Category: Microbiology Authors: Source Type: research
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