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   Articles with "lipodystrophy" as a keyword



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Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities

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recommendations! Published in 2018 at "Current Diabetes Reports"

DOI: 10.1007/s11892-018-1099-9

Abstract: Purpose of reviewThis article focuses on recent progress in understanding the genetics of lipodystrophy syndromes, the pathophysiology of severe metabolic abnormalities caused by these syndromes, and causes of severe morbidity and a possible signal of… read more here.

Keywords: phenotypic genetic; lipodystrophy; genetic characteristics; metabolic abnormalities ... See more keywords
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Update on Therapeutic Options in Lipodystrophy

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recommendations! Published in 2018 at "Current Diabetes Reports"

DOI: 10.1007/s11892-018-1100-7

Abstract: Purpose of ReviewThe purpose of this review is to summarize the therapeutic approach for lipodystrophy syndromes with conventional treatment options and metreleptin therapy in detail and to point out the current investigational treatments in development.Recent… read more here.

Keywords: therapeutic options; options lipodystrophy; update therapeutic; treatment ... See more keywords

Lipodystrophy Syndromes: One Name but Many Diseases Highlighting the Importance of Adipose Tissue in Metabolism

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recommendations! Published in 2025 at "Current Diabetes Reports"

DOI: 10.1007/s11892-025-01602-5

Abstract: This review aims to introduce the latest developments in etiology and classification of lipodystrophy syndromes. Recent developments in genetic assessment with deeper sequencing have increased the number of specific etiologies of lipodystrophy with known single-gene… read more here.

Keywords: name many; etiology; one name; lipodystrophy ... See more keywords

Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation

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recommendations! Published in 2022 at "Journal of Endocrinological Investigation"

DOI: 10.1007/s40618-022-01795-6

Abstract: SARS-CoV-2 infection may cause varying degrees of cardiac injury and the presence of underlying cardiovascular morbidities contributes to the frequency and severity of occurrence of this complication. Lipodystrophy syndromes are frequently characterized by severe metabolic… read more here.

Keywords: lipodystrophy; lmna gene; cov infection; sars cov ... See more keywords

Clinical characteristics in two patients with partial lipodystrophy and Type A insulin resistance syndrome due to a novel heterozygous missense mutation in the insulin receptor gene.

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recommendations! Published in 2019 at "Diabetes research and clinical practice"

DOI: 10.1016/j.diabres.2019.04.034

Abstract: AIMS The present report aimed to clarify the clinical characteristics in a girl at the age of 12 and her mother with partial lipodystrophy and Type A insulin resistance syndrome. METHODS We examined fat distribution… read more here.

Keywords: insulin; insulin receptor; lipodystrophy; insulin resistance ... See more keywords
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Familial partial lipodystrophy syndromes.

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recommendations! Published in 2021 at "Presse medicale"

DOI: 10.1016/j.lpm.2021.104071

Abstract: Lipodystrophies are a heterogeneous group of rare conditions characterised by the loss of adipose tissue. The most common forms are familial partial lipodystrophy (FPLD) syndromes, which include a set of disorders, usually autosomal dominant, due… read more here.

Keywords: familial partial; lipodystrophy syndromes; lipodystrophy; fpld ... See more keywords
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Complications of Lipodystrophy Syndromes.

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recommendations! Published in 2021 at "Presse medicale"

DOI: 10.1016/j.lpm.2021.104085

Abstract: Lipodystrophy syndromes are rare complex multisystem disorders caused by generalized or partial lack of adipose tissue. Adipose tissue dysfunction in lipodystrophy is associated with leptin deficiency. Lipodystrophy leads to severe metabolic problems. These abnormalities include,… read more here.

Keywords: lipodystrophy syndromes; complications lipodystrophy; lipodystrophy; etiology ... See more keywords

Fatty liver in lipodystrophy: A review with a focus on therapeutic perspectives of adiponectin and/or leptin replacement.

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recommendations! Published in 2019 at "Metabolism: clinical and experimental"

DOI: 10.1016/j.metabol.2019.05.001

Abstract: Lipodystrophy is a group of clinically heterogeneous, inherited or acquired, disorders characterized by complete or partial absence of subcutaneous adipose tissue that may occur simultaneously with the pathological, ectopic, accumulation of fat in other regions… read more here.

Keywords: therapeutic perspectives; focus; fatty liver; lipodystrophy ... See more keywords

A series of genetically confirmed congenital lipodystrophy and diabetes in adult southern Indian patients

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recommendations! Published in 2024 at "Scientific Reports"

DOI: 10.1038/s41598-024-79516-7

Abstract: In this study, we analysed the mutation spectrum in subjects with suspected lipodystrophy using a targeted Next-generation sequencing (NGS) approach. Subjects with suspected lipodystrophy were for screened six genes (AGPAT2, BSCL2, LMNA, PPARG, ZMPSTE24, INSR)… read more here.

Keywords: series genetically; genetically confirmed; lmna 170707; lipodystrophy ... See more keywords

Association between the APOC3 (rs2854116), ESR2 (rs3020450), HFE (rs1799945), and MMP1 (rs1799750) gene polymorphisms and lipodystrophy in people living with HIV receiving antiretroviral therapy

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recommendations! Published in 2025 at "Expert Review of Molecular Diagnostics"

DOI: 10.1080/14737159.2025.2562863

Abstract: ABSTRACT Background The pathogenesis of lipodystrophy in people living with HIV (PLWHIV) receiving antiretrovirals appears to be multifactorial and may involve genetic factors; however, it is not yet fully understood. We verified the association between… read more here.

Keywords: esr2 rs3020450; lipodystrophy; esr2; association ... See more keywords

Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects

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recommendations! Published in 2018 at "Nucleus"

DOI: 10.1080/19491034.2018.1509659

Abstract: ABSTRACT Polycystic ovary syndrome (PCOS) is a common disorder with a high phenotypic variability. Frequently, it is associated with a mild to moderate insulin resistance (IR) caused by an interaction between polygenic diathesis and the… read more here.

Keywords: polycystic ovary; familial partial; lipodystrophy; ovary syndrome ... See more keywords