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   Articles with "congenital generalized" as a keyword



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Medical management of a child with congenital generalized lipodystrophy accompanied with progressive myoclonic epilepsy

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recommendations! Published in 2019 at "Medicine"

DOI: 10.1097/md.0000000000018121

Abstract: Abstract Rationale: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive hereditary disease. It is associated with metabolic complications and epilepsy is rare. Patient Concerns and Diagnoses: One child with BSCL2 mutation and CGL accompanied… read more here.

Keywords: progressive myoclonic; generalized lipodystrophy; child; epilepsy ... See more keywords
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Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy

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recommendations! Published in 2018 at "BMC Cardiovascular Disorders"

DOI: 10.1186/s12872-017-0738-4

Abstract: BackgroundMetabolic abnormalities in congenital generalized lipodystrophy (CGL) are associated with microvascular complications. However, the evaluation of different types of neuropathy in these patients, including the commitment of cardiovascular autonomic modulation, is scarce. The objective of… read more here.

Keywords: commitment cardiovascular; generalized lipodystrophy; autonomic modulation; cgl ... See more keywords
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Successful treatment of severe hypertriglyceridemia with icosapent ethyl in a case of congenital generalized lipodystrophy type 4

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recommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"

DOI: 10.1515/jpem-2021-0718

Abstract: Abstract Objectives Congenital generalized lipodystrophy type 4 (CGL4) is a rare autosomal recessive condition with high rates of morbidity and mortality. It is a multisystem condition associated with ventricular tachyarrhythmia, congenital myopathy, hepatitis, and metabolic… read more here.

Keywords: treatment; case; congenital generalized; hypertriglyceridemia ... See more keywords
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Features of BSCL2 related congenital generalized lipodystrophy in China: long-term follow-up of three patients and literature review

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recommendations! Published in 2022 at "Journal of Pediatric Endocrinology and Metabolism"

DOI: 10.1515/jpem-2022-0372

Abstract: Abstract Objectives Congenital generalized lipodystrophy (CGL) is a group of rare autosomal inherited diseases characterized by a widespread loss of adipose tissue. The main purpose of this study was to evaluate the features of Chinese… read more here.

Keywords: generalized lipodystrophy; congenital generalized; literature review; three patients ... See more keywords
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Targeted massively parallel sequencing for congenital generalized lipodystrophy.

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recommendations! Published in 2021 at "Archives of endocrinology and metabolism"

DOI: 10.20945/2359-3997000000278

Abstract: Objective Our aim is to establish genetic diagnosis of congenital generalized lipodystrophy (CGL) using targeted massively parallel sequencing (MPS), also known as next-generation sequencing (NGS). Methods Nine unrelated individuals with a clinical diagnosis of CGL… read more here.

Keywords: diagnosis; massively parallel; targeted massively; parallel sequencing ... See more keywords
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Insulin Resistance, Cardiovascular Autonomic Neuropathy, and Left Ventricular Hypertrophy in Patients with Congenital Generalized Lipodystrophy

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recommendations! Published in 2018 at "Diabetes"

DOI: 10.2337/db18-585-p

Abstract: Congenital generalized lipodystrophy (CGL) subjects have a high prevalence of cardiovascular autonomic neuropathy (CAN) and cardiac complications, including left ventricular hypertrophy (LVH). This study aimed to analyze insulin resistance (IR), CAN severity and LVH association.… read more here.

Keywords: autonomic neuropathy; generalized lipodystrophy; none; cardiovascular autonomic ... See more keywords
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1745-P: High Prevalence of Thyroid Abnormalities in Patients with Congenital Generalized Lipodystrophy

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recommendations! Published in 2020 at "Diabetes"

DOI: 10.2337/db20-1745-p

Abstract: Background: It is related that thyroid appears can be affected by insulin resistance (IR). Early and severe IR is a characteristic of Congenital Generalized Lipodystrophy (CGL), characterized by near to total absence of subcutaneous adipose… read more here.

Keywords: none; prevalence thyroid; thyroid abnormalities; congenital generalized ... See more keywords
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Reduced Endothelial Leptin Signaling Increases Vascular Adrenergic Reactivity in a Mouse Model of Congenital Generalized Lipodystrophy

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recommendations! Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms221910596

Abstract: The adipokine leptin, which is best-known for its role in the control of metabolic function, is also a master regulator of cardiovascular function. While leptin has been approved for the treatment of metabolic disorders in… read more here.

Keywords: treatment; leptin; endothelial leptin; lipodystrophy ... See more keywords