Phenotypic and Genetic Characteristics of Lipodystrophy: Pathophysiology, Metabolic Abnormalities, and Comorbidities
Sign Up to like & getrecommendations! 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
Update on Therapeutic Options in Lipodystrophy
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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
Post-acute cardiac complications following SARS-CoV-2 infection in partial lipodystrophy due to LMNA gene p.R349W mutation
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Familial partial lipodystrophy syndromes.
Sign Up to like & getrecommendations! 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
Complications of Lipodystrophy Syndromes.
Sign Up to like & getrecommendations! 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.
Sign Up to like & getrecommendations! 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
Polycystic ovary syndrome in familial partial lipodystrophy type 2 (FPLD2): basic and clinical aspects
Sign Up to like & getrecommendations! 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
Adipose tissue aging partially accounts for fat alterations in HIV lipodystrophy
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DOI: 10.1080/21623945.2022.2042962
Abstract: ABSTRACT Lipodystrophy is a major disturbance in people living with HIV-1 (PLWH). Several systemic alterations in PLWH are reminiscent of those that occur in ageing. It is unknown whether the lipodystrophy in PLWH is the… read more here.
Keywords: aging partially; elderly individuals; adipose tissue; lipodystrophy ... See more keywords
Psychosocial Correlates of Body Image and Lipodystrophy in Women Aging With HIV.
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DOI: 10.1097/jnc.0000000000000139
Abstract: Body image disturbance is increasingly relevant as women living with HIV (WLWH) live longer. We explored body image disturbance and changes in fat distribution (lipodystrophy) in 63 WLWH (mean age = 51 years) and evaluated… read more here.
Keywords: psychosocial correlates; lipodystrophy; body image; image ... See more keywords
A case of diencephalic syndrome presenting with isolated lipodystrophy.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical Dysmorphology"
DOI: 10.1097/mcd.0000000000000235
Abstract: Diencephalic syndrome is a disorder characterized by severe emaciation during childhood. The rarity of the disorder coupled with nonspecific symptomology means that there is often a protracted diagnostic journey. Here, we report a child who… read more here.
Keywords: case diencephalic; genetics; diencephalic syndrome; lipodystrophy ... See more keywords