532 results match your criteria Lipodystrophy Generalized


[Mutations in the BSCL2 gene cause congenital generalized lipodystrophy complicated by severe acute pancreatitis: a case report].

Zhonghua Nei Ke Za Zhi 2019 Jan;58(1):63-64

Department of Intensive Care Unit, Second Affiliated Hospital of Anhui Medical University, Hefei 230601, China.

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http://dx.doi.org/10.3760/cma.j.issn.0578-1426.2019.01.011DOI Listing
January 2019

Type 2 Congenital Generalized Lipodystrophy: The Diagnosis is in Your Hands.

J Pediatr 2018 Dec 20. Epub 2018 Dec 20.

Departamento de Medicina Clínica Hospital Universitário Onofre Lopes Universidade Federal do Rio Grande do Norte Natal, Rio Grande do Norte, Brazil; Brazilian Group for the Study of Inherited and Acquired Lipodystrophies (BRAZLIPO).

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http://dx.doi.org/10.1016/j.jpeds.2018.11.030DOI Listing
December 2018

[Unusual facies and recurrent high triglycerides for more than one year in a girl].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Dec;20(12):1050-1054

Department of Pediatrics, First Affiliated Hospital of Hunan Normal University/Hunan Provincial People's Hospital, Changsha 410005, China.

A girl, aged 1 year and 9 months, was found to have hypertriglyceridemia in the neonatal period, with unusual facies and signs of dark skin all over the body, disappearance of subcutaneous adipose, acanthosis nigricans of the neck, excessive and thick hair, empty cheeks, muscle hypertrophy of the extremities, hepatomegaly, and neutrophil deficiency. Whole exome sequencing of monogenic disorder revealed a homozygote mutation in the BSCL2 gene, c.974 (exon 7)_c. Read More

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December 2018

Berardinelli-Seip syndrome patient with novel splicesite mutation and concomitant development of non-diabetic polyneuropathy

J Clin Res Pediatr Endocrinol 2018 Dec 19. Epub 2018 Dec 19.

Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland

Primary polyneuropathy in the context of Seip-Berardinelli type 1 seipinopathy, or congenital lipodystrophy type 1 (CGL1) is previously unknown. We report the case history of a 27 year old female CGL1 patient presenting with unusual additional development of non-diabetic peripheral neuropathy (PN) and learning disabilities in early adolescence. Whole exome sequencing (WES) of the patient genome identifies a novel rare variant homozygous for a 52 bp intronic deletion in the locus uniquely associated with CGL1 seipinopathies, with no molecular evidence for dual diagnosis. Read More

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http://dx.doi.org/10.4274/jcrpe.0227DOI Listing
December 2018
2 Reads

Post Mortem Findings in a Young Male with Congenital Generalized Lipodystrophy, Type 4 due to CAVIN1 mutations.

J Clin Endocrinol Metab 2018 Nov 21. Epub 2018 Nov 21.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition; UT Southwestern Medical Center, Dallas, Texas, USA.

Context: Congenital generalized lipodystrophy, type 4 (CGL4) is a rare autosomal recessive disorder caused by CAVIN1 mutations. Patients with CGL4 also have myopathy and cardiomyopathy with a predisposition for sudden death due to ventricular arrhythmias. However, underlying pathology for these morbidities remains unknown. Read More

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https://academic.oup.com/jcem/advance-article/doi/10.1210/jc
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http://dx.doi.org/10.1210/jc.2018-01331DOI Listing
November 2018
7 Reads

Adipose tissue transplantation ameliorates lipodystrophy-associated metabolic disorders in seipin-deficient mice.

Am J Physiol Endocrinol Metab 2019 Jan 20;316(1):E54-E62. Epub 2018 Nov 20.

Institute of Cardiovascular Sciences and Key Laboratory of Molecular Cardiovascular Sciences, School of Basic Medical Sciences, Ministry of Education, Peking University Health Science Center , Beijing , China.

Seipin deficiency is responsible for type 2 congenital generalized lipodystrophy with severe loss of adipose tissue and can lead to hepatic steatosis, insulin resistance (IR), and dyslipidemia in humans. Adipose tissue secretes many adipokines that are central to the regulation of metabolism. In this study, we investigated whether transplantation of normal adipose tissue could ameliorate severe hepatic steatosis, IR, and dyslipidemia in lipoatrophic seipin knockout (SKO) mice. Read More

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https://www.physiology.org/doi/10.1152/ajpendo.00180.2018
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http://dx.doi.org/10.1152/ajpendo.00180.2018DOI Listing
January 2019
9 Reads

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

Curr Diab Rep 2018 Nov 8;18(12):143. Epub 2018 Nov 8.

Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 1000 Wall Street, Room 5313, Ann Arbor, MI, 48105, USA.

Purpose Of Review: This 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 increased mortality associated with lipodystrophy. An updated classification scheme is also presented.

Recent Findings: Lipodystrophy encompasses a group of heterogeneous rare diseases characterized by generalized or partial lack of adipose tissue and associated metabolic abnormalities including altered lipid metabolism and insulin resistance. Read More

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http://link.springer.com/10.1007/s11892-018-1099-9
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http://dx.doi.org/10.1007/s11892-018-1099-9DOI Listing
November 2018
14 Reads

Update on Therapeutic Options in Lipodystrophy.

Curr Diab Rep 2018 Oct 29;18(12):139. Epub 2018 Oct 29.

Brehm Center for Diabetes Research, Division of Metabolism, Endocrinology & Diabetes, Department of Internal Medicine, University of Michigan, 1000 Wall Street, Room 5313, Ann Arbor, MI, 48105, USA.

Purpose Of Review: The 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 Findings: The observation of leptin deficiency in patients with lipodystrophy and the potential of leptin replacement to rescue metabolic abnormalities in animal models of lipodystrophy were followed by the first clinical study of leptin therapy in patients with severe lipodystrophy. This and several other long-term studies demonstrated important benefits of recombinant human leptin (metreleptin) to treat metabolic abnormalities of lipodystrophy. Read More

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http://link.springer.com/10.1007/s11892-018-1100-7
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http://dx.doi.org/10.1007/s11892-018-1100-7DOI Listing
October 2018
7 Reads

[A case report of congenital generalized lipodystrophy].

Zhongguo Dang Dai Er Ke Za Zhi 2018 Oct;20(10):857-860

Department of Pediatrics, The First Affiliated Hospital of Jinan University, Guangzhou 510630, China.

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October 2018
8 Reads

A Single Complex Allele in a Patient With Partial Lipodystrophy.

Front Physiol 2018 26;9:1363. Epub 2018 Sep 26.

Center for Molecular Medicine, University Medical Centre Utrecht, Utrecht University, Utrecht, Netherlands.

Genetic lipodystrophies are a group of rare syndromes associated with major metabolic complications - including severe insulin resistance, type 2 diabetes mellitus, and hypertriglyceridemia - which are classified according to the distribution of adipose tissue. Lipodystrophies can be present at birth or develop during life and can range from local to partial and general. With at least 18 different genes implicated so far, definite diagnosis can be challenging due to clinical and genetic heterogeneity. Read More

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http://dx.doi.org/10.3389/fphys.2018.01363DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6168662PMC
September 2018
1 Read

Monogenic forms of lipodystrophic syndromes: diagnosis, detection, and practical management considerations from clinical cases.

Curr Med Res Opin 2018 Nov 9:1-10. Epub 2018 Nov 9.

d Assistance Publique-Hôpitaux de Paris (AP-HP), Hôpital Universitaire Robert Debré , Service d'endocrinologie diabétologie pédiatrique, Centre de Compétence des Pathologies Rares de l'Insulino-Sécrétion et de l'Insulino-Sensibilité (PRISIS) , Paris , France.

Background: Lipodystrophic syndromes are rare diseases of genetic or acquired origin characterized by partial or generalized lack of body fat. Early detection and diagnosis are crucial to prevent and manage associated metabolic dysfunctions, i.e. Read More

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https://www.tandfonline.com/doi/full/10.1080/03007995.2018.1
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http://dx.doi.org/10.1080/03007995.2018.1533459DOI Listing
November 2018
5 Reads

Autoantibodies Against Perilipin 1 as a Cause of Acquired Generalized Lipodystrophy.

Front Immunol 2018 19;9:2142. Epub 2018 Sep 19.

La Paz University Hospital Research Institute, Madrid, Spain.

Acquired generalized lipodystrophy (AGL) is a rare condition characterized by an altered distribution of adipose tissue and predisposition to develop hepatic steatosis and fibrosis, diabetes, and hypertriglyceridemia. Diagnosis of AGL is based on the observation of generalized fat loss, autoimmunity and lack of family history of lipodystrophy. The pathogenic mechanism of fat destruction remains unknown but evidences suggest an autoimmune origin. Read More

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https://www.frontiersin.org/article/10.3389/fimmu.2018.02142
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http://dx.doi.org/10.3389/fimmu.2018.02142DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6156147PMC
September 2018
9 Reads

Further delineation of AGPAT2 and BSCL2 related congenital generalized lipodystrophy in young infants.

Eur J Med Genet 2018 Sep 25. Epub 2018 Sep 25.

Department of Pediatrics, Peking University First Hospital, Beijing, 100034, China. Electronic address:

Background And Objectives: Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disorder with two major subtypes, which are caused by AGPAT2 and BSCL2 mutations. Our aim was to further investigate the genetic features and clinical characteristics of infant patients with CGL.

Patients And Methods: Three male infants and two female infants aged from one month to three months and unrelated with each other were involved in this study. Read More

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https://linkinghub.elsevier.com/retrieve/pii/S17697212183034
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http://dx.doi.org/10.1016/j.ejmg.2018.09.009DOI Listing
September 2018
2 Reads

"Fat Shadows" From DXA for the Qualitative Assessment of Lipodystrophy: When a Picture Is Worth a Thousand Numbers.

Diabetes Care 2018 10;41(10):2255-2258

Division of Metabolism, Endocrinology and Diabetes, Department of Internal Medicine, University of Michigan Medical School, Ann Arbor, MI

Objective: Lipodystrophy syndromes are a heterogeneous group of disorders associated with selective absence of fat. Currently, the diagnosis is established only clinically.

Research Design And Methods: We developed a new method from DXA scans called a "fat shadow," which is a color-coded representation highlighting only the fat tissue. Read More

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http://dx.doi.org/10.2337/dc18-0978DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6150431PMC
October 2018
2 Reads

Impairment of respiratory muscle strength in Berardinelli-Seip congenital lipodystrophy subjects.

Respir Res 2018 Sep 12;19(1):173. Epub 2018 Sep 12.

Faculdade de Ciências da Saúde do Trairi, Universidade Federal do Rio Grande do Norte, Santa Cruz, RN, Brazil.

Background: Berardinelli-Seip Congenital Generalized Lipodystrophy (BSCL) is an ultra-rare metabolic disease characterized by hypertriglyceridemia, hyperinsulinemia, hyperglycemia, hypoleptinemia, and diabetes mellitus. Although cardiovascular disturbances have been observed in BSCL patients, there are no studies regarding the Respiratory Muscle Strength (RMS) in this type of lipodystrophy. This study aimed to evaluate RMS in BSCL subjects compared with healthy subjects. Read More

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https://respiratory-research.biomedcentral.com/articles/10.1
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http://dx.doi.org/10.1186/s12931-018-0879-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6134719PMC
September 2018
16 Reads

Homozygous and Heterozygous Nuclear Lamin A p.R582C Mutation: Different Lipodystrophic Phenotypes in the Same Kindred.

Front Endocrinol (Lausanne) 2018 20;9:458. Epub 2018 Aug 20.

Brazilian Group for the Study of Inherited and Acquired Lipodystrophies, Faculdade de Medicina, Universidade Federal do Ceará, Fortaleza, Brazil.

Dunnigan-type familial partial lipodystrophy (FPLD2) is a rare autosomal dominant disease caused by heterozygous mutations in the gene that results in regional loss of subcutaneous adipose tissue with onset in puberty. However, a generalized lipodystrophy phenotype has also been associated with heterozygous mutations in this gene, demonstrating the noticeable phenotypic heterogeneity of this disease. We report and describe clinical and metabolic features of four patients from the same family with the p. Read More

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https://www.frontiersin.org/article/10.3389/fendo.2018.00458
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http://dx.doi.org/10.3389/fendo.2018.00458DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6110164PMC
August 2018
12 Reads

Characteristic findings of skeletal muscle MRI in caveolinopathies.

Neuromuscul Disord 2018 Oct 31;28(10):857-862. Epub 2018 Jul 31.

Department of Pediatrics, School of Medicine, Tokyo Women's Medical University, 8-1 Kawada-cho, Shinjuku-ku, Tokyo, Japan. Electronic address:

Caveolinopathies, caused by CAV3 mutations, can include several phenotypes such as rippling muscle disease, limb-girdle muscular dystrophy type 1C, distal myopathy, familial hypertrophic cardiomyopathy, and idiopathic hyperCKemia. Here we present characteristic skeletal muscle imaging findings in four patients with genetically defined childhood-onset RMD caused by CAV3 mutations and in one patient with congenital generalized lipodystrophy type 4 with muscular dystrophy due to polymerase I and transcript release factor (PTRF) mutations, which may have caused secondary deficiency of caveolin-3. Muscle MRI revealed that the rectus femoris and semitendinosus muscles were most commonly affected in the rippling muscle disease patients. Read More

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http://dx.doi.org/10.1016/j.nmd.2018.07.010DOI Listing
October 2018
4 Reads
2.640 Impact Factor

SNAP23 regulates BAX-dependent adipocyte programmed cell death independently of canonical macroautophagy.

J Clin Invest 2018 Aug 13;128(9):3941-3956. Epub 2018 Aug 13.

Department of Medicine.

The t-SNARE protein SNAP23 conventionally functions as a component of the cellular machinery required for intracellular transport vesicle fusion with target membranes and has been implicated in the regulation of fasting glucose levels, BMI, and type 2 diabetes. Surprisingly, we observed that adipocyte-specific KO of SNAP23 in mice resulted in a temporal development of severe generalized lipodystrophy associated with adipose tissue inflammation, insulin resistance, hyperglycemia, liver steatosis, and early death. This resulted from adipocyte cell death associated with an inhibition of macroautophagy and lysosomal degradation of the proapoptotic regulator BAX, with increased BAX activation. Read More

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http://dx.doi.org/10.1172/JCI99217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6118598PMC
August 2018
7 Reads

Acquired generalised lipodystrophy and type 1 diabetes mellitus in a child: a rare and implacable association.

BMJ Case Rep 2018 Aug 3;2018. Epub 2018 Aug 3.

Department of Paediatrics, Post Graduate Institude of Medical Education and Research, Chandigarh, India.

Lipodystrophy syndromes are frequently associated with marked degree of insulin resistance and lipoatrophic diabetes. Although acquired generalised lipodystrophy (AGL) has been known to be associated with various autoimmune disorders, type 1 diabetes mellitus (T1DM) is very rarely reported to occur with AGL. Combination of AGL and T1DM can lead to a totally different phenotype with very difficult-to-treat diabetes and progressive complications of both the conditions. Read More

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http://dx.doi.org/10.1136/bcr-2018-225553DOI Listing
August 2018
3 Reads

Expression of AGPAT2, an enzyme involved in the glycerophospholipid/triacylglycerol biosynthesis pathway, is directly regulated by HIF-1 and promotes survival and etoposide resistance of cancer cells under hypoxia.

Biochim Biophys Acta Mol Cell Biol Lipids 2018 09 15;1863(9):1142-1152. Epub 2018 Jun 15.

Laboratory of Physiology, Faculty of Medicine, University of Thessaly, Larissa, Greece. Electronic address:

Hypoxia inducible factor-1 (HIF-1) supports survival of normal cells under low oxygen concentration and cancer cells in the hypoxic tumor microenvironment. This involves metabolic reprogramming via upregulation of glycolysis, downregulation of oxidative phosphorylation and, less well documented, effects on lipid metabolism. To investigate the latter, we examined expression of relevant enzymes in cancer cells grown under hypoxia. Read More

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http://dx.doi.org/10.1016/j.bbalip.2018.06.015DOI Listing
September 2018

Causes of death in patients with Berardinelli-Seip congenital generalized lipodystrophy.

PLoS One 2018 8;13(6):e0199052. Epub 2018 Jun 8.

Instituto de Medicina Tropical do Rio Grande do Norte (UFRN), Natal, RN, Brazil.

Introduction: Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease that affects the development of adipocytes and leads to an inability to store fat in adipocytes. This study aimed to evaluate the life expectancy and the causes of death of patients with BSCL.

Method: We analyzed death certificates, and medical records of BSCL patients who died between 1997 and 2017. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0199052PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5993255PMC
January 2019
2 Reads
1 Citation
3.230 Impact Factor

Nurses' knowledge about Berardinelli-Seip Congenital Lipodystrophy.

PLoS One 2018 4;13(6):e0197784. Epub 2018 Jun 4.

Faculdade de Ciências da Saúde do Trairi, Universidade Federal do Rio Grande do Norte, Santa Cruz, RN, Brazil.

Berardinelli-Seip Congenital Lipodystrophy (BSCL) is a rare autosomal recessive disease characterized by the almost complete absence of adipose tissue. Due to a strong founder effect that resulted in a higher prevalence of BSCL in Rio Grande do Norte (RN), a state in northeastern Brazil, it has been essential that health professionals develop knowledge about this disease. Nurses are often the first point of contact with patients during health care assistance. Read More

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0197784PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5986131PMC
November 2018
1 Read

Case Report of Acquired Generalized Lipodystrophy Associated With Common Variable Immunodeficiency.

J Clin Endocrinol Metab 2018 Aug;103(8):2807-2810

Department of Endocrinology and Metabolism, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.

Context: Acquired generalized lipodystrophy (AGL), a rare disorder characterized by loss of subcutaneous adipose tissue, is estimated to occur in association with autoimmune diseases in ~25% of the cases. Common variable immunodeficiency (CVI) is a condition known for its strong association with autoimmune diseases often occurring with negative autoantibodies. To the best of our knowledge, we describe the first known case of AGL in a patient with CVI. Read More

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https://academic.oup.com/jcem/article/103/8/2807/5005940
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http://dx.doi.org/10.1210/jc.2018-00494DOI Listing
August 2018
7 Reads

A YOUNG ADULT WITH GENERALIZED LIPODYSTROPHY AND DIABETES MELLITUS (CASE REPORT).

Georgian Med News 2018 Apr(277):27-31

Service of Endocrinology and Metabolic diseases, University Hospital Center "Mother Theresa", Tirana, Albania.

Lipodystrophies are a group of heterogeneous disorders characterized by varying degrees of body fat loss and predisposition to insulin resistance and its metabolic complications. Lipodystrophy associated metabolic abnormalities include insulin resistance, that often lead to diabetes mellitus and its complications, hypertriglyceridemia that may be severe enough to cause acute pancreatitis, and hepatic steatosis that may lead to cirrhosis. We present the case of an 18-year-old female who was hospitalized as an inaugural Diabetes Mellitus. Read More

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Renal injury in Seipin-deficient lipodystrophic mice and its reversal by adipose tissue transplantation or leptin administration alone: adipose tissue-kidney crosstalk.

FASEB J 2018 Oct 8;32(10):5550-5562. Epub 2018 May 8.

Institute of Cardiovascular Sciences, Ministry of Education, Peking University Health Science Center, Beijing, China.

Seipin deficiency is responsible for type 2 congenital generalized lipodystrophy with severe loss of adipose tissue (AT) and could lead to renal failure in humans. However, the effect of Seipin on renal function is poorly understood. Here we report that Seipin knockout (SKO) mice exhibited impaired renal function, enlarged glomerular and mesangial surface areas, renal depositions of lipid, and advanced glycation end products. Read More

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http://dx.doi.org/10.1096/fj.201701427RDOI Listing
October 2018
9 Reads
5.040 Impact Factor

Renal complications of lipodystrophy: A closer look at the natural history of kidney disease.

Clin Endocrinol (Oxf) 2018 Jul 17;89(1):65-75. Epub 2018 May 17.

Division of Endocrinology and Metabolism, Brehm Center for Diabetes Department of Internal Medicine, University of Michigan, Ann Arbor, MI, USA.

Objectives: Lipodystrophy syndromes are a group of heterogeneous disorders characterized by adipose tissue loss. Proteinuria is a remarkable finding in previous reports.

Study Design: In this multicentre study, prospective follow-up data were collected from 103 subjects with non-HIV-associated lipodystrophy registered in the Turkish Lipodystrophy Study Group database to study renal complications in treatment naïve patients with lipodystrophy. Read More

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http://dx.doi.org/10.1111/cen.13732DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5999575PMC
July 2018
7 Reads
3.460 Impact Factor

Diagnosis and treatment of lipodystrophy: a step-by-step approach.

J Endocrinol Invest 2019 Jan 27;42(1):61-73. Epub 2018 Apr 27.

Endocrinology Unit, Obesity Center, University Hospital of Pisa, Pisa, Italy.

Aim: Lipodystrophy syndromes are rare heterogeneous disorders characterized by deficiency of adipose tissue, usually a decrease in leptin levels and, frequently, severe metabolic abnormalities including diabetes mellitus and dyslipidemia.

Purpose: To describe the clinical presentation of known types of lipodystrophy, and suggest specific steps to recognize, diagnose and treat lipodystrophy in the clinical setting.

Methods: Based on literature and in our own experience, we propose a stepwise approach for diagnosis of the different subtypes of rare lipodystrophy syndromes, describing its more frequent co-morbidities and establishing the therapeutical approach. Read More

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http://dx.doi.org/10.1007/s40618-018-0887-zDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6304182PMC
January 2019
4 Reads

Berardinelli-Seip Congenital Generalised Lipodystrophy.

J Coll Physicians Surg Pak 2018 May;28(5):406-408

Department of Pediatric Gastroenterology and Hepatology, The Children's Hospital and The Institute of Child Health, Lahore.

Berardinelli-Seip congenital lipodystrophy (BSCL) syndrome is a rare genetic disorder caused by dysregulation of glycemic and lipid metabolism. We report five BSCL cases with typical clinical pictures and complications. These, to the best of our knowledge, represent the first case series from Pakistan. Read More

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http://dx.doi.org/10.29271/jcpsp.2018.05.406DOI Listing
May 2018
10 Reads

Seipin deficiency in mice causes loss of dopaminergic neurons via aggregation and phosphorylation of α-synuclein and neuroinflammation.

Cell Death Dis 2018 05 1;9(5):440. Epub 2018 May 1.

State Key Lab of Reproductive Medicine, Nanjing Medical University, 210029, Nanjing, China.

Seipin gene is originally found in type 2 congenital generalized lipodystrophy (CGL2) to involve lipid droplet formation. Recently, decrease of seipin expression is reported in substantia nigra of Parkinson's disease patients. Dopaminergic neurons in substantia nigra pars compacta expressed the seipin protein. Read More

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http://www.nature.com/articles/s41419-018-0471-7
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http://dx.doi.org/10.1038/s41419-018-0471-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5906676PMC
May 2018
10 Reads

Long-term effectiveness and safety of metreleptin in the treatment of patients with generalized lipodystrophy.

Endocrine 2018 06 12;60(3):479-489. Epub 2018 Apr 12.

National Institute of Diabetes and Digestive and Kidney Diseases, National Institutes of Health, Bethesda, MD, USA.

Purpose: The purpose of this study is to summarize the effectiveness and safety of metreleptin in patients with congenital or acquired generalized lipodystrophy.

Methods: Patients (n = 66) aged ≥6 months had lipodystrophy, low circulating leptin, and ≥1 metabolic abnormality (diabetes mellitus, insulin resistance, or hypertriglyceridemia). Metreleptin dose (once or twice daily) was titrated to a mean dose of 0. Read More

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http://dx.doi.org/10.1007/s12020-018-1589-1DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5936645PMC
June 2018
9 Reads

Potential association of LMNA-associated generalized lipodystrophy with juvenile dermatomyositis.

Clin Diabetes Endocrinol 2018 27;4. Epub 2018 Mar 27.

2Metabolism Endocrinology and Diabetes Division, Department of Internal Medicine, University of Michigan and Brehm Center for Diabetes, 1000 Wall Street, Room 5313, Ann Arbor, MI MI48105 USA.

Background: Juvenile dermatomyositis (JDM) is an auto-immune muscle disease which presents with skin manifestations and muscle weakness. At least 10% of the patients with JDM present with acquired lipodystrophy. Laminopathies are caused by mutations in the lamin genes and cover a wide spectrum of diseases including muscular dystrophies and lipodystrophy. Read More

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http://dx.doi.org/10.1186/s40842-018-0058-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5870259PMC
March 2018
4 Reads

Lipodystrophic syndromes due to LMNA mutations: recent developments on biomolecular aspects, pathophysiological hypotheses and therapeutic perspectives.

Nucleus 2018 Jan;9(1):235-248

a Sorbonne Université, Inserm UMR_S 938, Centre de Recherche Saint-Antoine, Institut Hospitalo-Universitaire de Cardio-métabolisme et Nutrition (ICAN) , Paris , France.

Mutations in LMNA, encoding A-type lamins, are responsible for laminopathies including muscular dystrophies, lipodystrophies, and premature ageing syndromes. LMNA mutations have been shown to alter nuclear structure and stiffness, binding to partners at the nuclear envelope or within the nucleoplasm, gene expression and/or prelamin A maturation. LMNA-associated lipodystrophic features, combining generalized or partial fat atrophy and metabolic alterations associated with insulin resistance, could result from altered adipocyte differentiation or from altered fat structure. Read More

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http://dx.doi.org/10.1080/19491034.2018.1456217DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5973242PMC
January 2018
6 Reads

Contribution of Adipose-Derived Factor D/Adipsin to Complement Alternative Pathway Activation: Lessons from Lipodystrophy.

J Immunol 2018 Apr 12;200(8):2786-2797. Epub 2018 Mar 12.

Division of Endocrinology, Metabolism and Lipid Research, Department of Medicine, Washington University School of Medicine, St. Louis, MO 63110;

Factor D (FD) is an essential component of the complement alternative pathway (AP). It is an attractive pharmaceutical target because it is an AP-specific protease circulating in blood. Most components of the complement activation pathways are produced by the liver, but FD is highly expressed by adipose tissue. Read More

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http://dx.doi.org/10.4049/jimmunol.1701668DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5893424PMC
April 2018
7 Reads

Congenital generalized lipodystrophy in Taiwan.

J Formos Med Assoc 2019 Jan 1;118(1 Pt 1):142-147. Epub 2018 Mar 1.

Department of Pediatrics, National Taiwan University Hospital, Taipei, Taiwan. Electronic address:

Background: Congenital generalized lipodystrophy (CGL) is a rare disorder characterized by scarce adipose tissue. This disease is distributed worldwide, but little is known about these patients in the Chinese population. Here, we delineate the phenotype and prognosis of CGL in our cohort. Read More

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http://dx.doi.org/10.1016/j.jfma.2018.02.003DOI Listing
January 2019
7 Reads

Anesthesia for patients with mutations: a case report.

JA Clin Rep 2018 25;4(1):11. Epub 2018 Jan 25.

Department of Anesthesiology, Tokyo Metropolitan Bokutoh Hospital, 4-23-15 Kotobashi, Sumida-ku, Tokyo, 130-8575 Japan.

Background: Polymeraze I and transcript release factor () mutations are a newly recognized disease, which cause congenital generalized lipodystrophy associated with myopathy.

Case Presentation: A 29-year-old man (height 126 cm; weight 22 kg) with a mutation was scheduled for mandibular dentigerous cystectomy. His primary symptoms were lipodystrophy, myopathy, long QT syndrome, refractory nephrosis, and abnormal lipid metabolism. Read More

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http://dx.doi.org/10.1186/s40981-017-0139-9DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5804690PMC
January 2018
2 Reads

Experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast.

Cien Saude Colet 2018 Feb;23(2):389-398

Escola Multicampi de Ciências Médicas, Universidade Federal do Rio Grande do Norte (UFRN). Av. Dr. Carlindo de Souza Dantas 540, Centro. 59300-000 Caicó RN Brasil.

This paper analyzes the experience of people living with the Berardinelli-Seip Syndrome in the Brazilian Northeast. This qualitative study was developed with eleven informants, namely, nine people living with the syndrome and two mothers. Information was gathered using participant observation, social characterization and semi-structured interviews. Read More

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http://dx.doi.org/10.1590/1413-81232018232.16802017DOI Listing
February 2018

Early commitment of cardiovascular autonomic modulation in Brazilian patients with congenital generalized lipodystrophy.

BMC Cardiovasc Disord 2018 01 12;18(1). Epub 2018 Jan 12.

Faculty of Medicine, Federal University of Ceará, Fortaleza, Brazil.

Background: Metabolic 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 the present study was to determine the prevalence of cardiovascular autonomic neuropathy (CAN) in patients with CGL compared with individuals with type 1 diabetes and healthy subjects. Read More

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http://dx.doi.org/10.1186/s12872-017-0738-4DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5767058PMC
January 2018
8 Reads

A Novel Generalized Lipodystrophy-Associated Progeroid Syndrome Due to Recurrent Heterozygous LMNA p.T10I Mutation.

J Clin Endocrinol Metab 2018 03;103(3):1005-1014

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine, Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.

Background: Lamin A/C (LMNA) gene mutations cause a heterogeneous group of progeroid disorders, including Hutchinson-Gilford progeria syndrome, mandibuloacral dysplasia, and atypical progeroid syndrome (APS). Five of the 31 previously reported patients with APS harbored a recurrent de novo heterozygous LMNA p.T10I mutation. Read More

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https://academic.oup.com/jcem/article/103/3/1005/4743225
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http://dx.doi.org/10.1210/jc.2017-02078DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6283411PMC
March 2018
34 Reads

Clinical outcome in a series of pediatric patients with congenital generalized lipodystrophies treated with dietary therapy.

J Pediatr Endocrinol Metab 2018 Jan;31(1):77-83

Hospital de Pediatría Prof. Dr. Juan P. Garrahan, Head of Nutrition Department, Combate de los pozos 1881, Buenos Aires 1245, Argentina.

Background: Congenital generalized lipodystrophy (CGL) produces clinical features with severe metabolic consequences. Research has focused on measuring the response to the drugs. Nevertheless, there are no studies on the response to dietary therapy. Read More

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http://dx.doi.org/10.1515/jpem-2017-0355DOI Listing
January 2018
2 Reads

Congenital Generalized Lipodystrophy Type 2 in a Patient From a High-Prevalence Area.

J Endocr Soc 2017 Aug 26;1(8):1012-1014. Epub 2017 Jun 26.

Endocrinology Unit, Dos De Mayo Hospital, Lima, Peru (051) 15072.

Congenital generalized lipodystrophy (CGL) is a rare autosomal recessive disease characterized by the loss of body fat. The global prevalence of CGL is one in 10 million, and there are four subtypes. The case is presented of a 18-year-old woman from rural area of the north coast of Peru (Piura) with limited access to health services. Read More

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http://dx.doi.org/10.1210/js.2017-00141DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5686680PMC
August 2017
4 Reads

Estimating the prevalence of generalized and partial lipodystrophy: findings and challenges.

Diabetes Metab Syndr Obes 2017 13;10:375-383. Epub 2017 Sep 13.

Complete HEOR Solutions (CHEORS), North Wales, PA, USA.

Background: Lipodystrophy (LD; non-human immunodeficiency virus [HIV]-associated) syndromes are a rare body of disorders for which true prevalence is unknown. Prevalence estimates of rare diseases are important to increase awareness and financial resources. Current qualitative and quantitative estimates of LD prevalence range from ~0. Read More

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http://dx.doi.org/10.2147/DMSO.S130810DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5604558PMC
September 2017
18 Reads

Determining residual adipose tissue characteristics with MRI in patients with various subtypes of lipodystrophy.

Diagn Interv Radiol 2017 Nov-Dec;23(6):428-434

Department of Radiology, Dokuz Eylül University School of Medicine, İzmir, Turkey.

Purpose: We aimed to investigate residual adipose tissue with whole-body magnetic resonance imaging to differentiate between subtypes of lipodystrophy.

Methods: A total of 32 patients (12 with congenital generalized lipodystrophy [CGL], 1 with acquired generalized lipodystrophy [AGL], 12 with familial partial lipodystrophy [FPLD], and 7 with acquired partial lipodystrophy [APL]) were included.

Results: Despite generalized loss of metabolically active adipose tissue, patients with CGL1 caused by AGPAT2 mutations had a significant amount of residual adipose tissue in the scalp, earlobes, retro-orbital region, and palms and soles. Read More

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http://dx.doi.org/10.5152/dir.2017.17019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5669542PMC
July 2018
30 Reads

Facial soft tissue volume decreases during metreleptin treatment in patients with partial and generalized lipodystrophy.

Endocrine 2017 Nov 9;58(2):262-266. Epub 2017 Oct 9.

Department of Oral and Maxillofacial Plastic Surgery, University of Leipzig, Leipzig, Germany.

Purpose: Lipodystrophy (LD) patients suffer from loss or maldistribution of subcutaneous adipose tissue accompanied by dysregulation of several adipocyte-secreted factors, e.g., leptin. Read More

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http://dx.doi.org/10.1007/s12020-017-1437-8DOI Listing
November 2017
17 Reads

Metabolic, Reproductive, and Neurologic Abnormalities in Agpat1-Null Mice.

Endocrinology 2017 11;158(11):3954-3973

Division of Nutrition and Metabolic Diseases, Center for Human Nutrition, Department of Internal Medicine, University of Texas Southwestern Medical Center, Dallas, Texas 75390.

Defects in the biosynthesis of phospholipids and neutral lipids are associated with cell membrane dysfunction, disrupted energy metabolism, and diseases including lipodystrophy. In these pathways, the 1-acylglycerol-3-phosphate O-acyltransferase (AGPAT) enzymes transfer a fatty acid to the sn-2 carbon of sn-1-acylglycerol-3-phosphate (lysophosphatidic acid) to form sn-1, 2-acylglycerol-3-phosphate [phosphatidic acid (PA)]. PA is a precursor for key phospholipids and diacylglycerol. Read More

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http://dx.doi.org/10.1210/en.2017-00511DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5695831PMC
November 2017
9 Reads

Clinical and molecular characterization of two Chinese patients with Type 2 congenital generalized lipodystrophy.

Gene 2017 Dec 12;637:57-62. Epub 2017 Sep 12.

Department of Endocrinology, Fuzhou Children's Hospital of Fujian, Fujian Medical University Teaching Hospital, Fuzhou 350005, China.

Background: Type 2 congenital generalized lipodystrophy (CGL2, OMIM 269700) is a rare autosomal recessive disease, characterized by the generalized absence of adipose tissue at birth or in early infancy. Pathogenic variants in BSCL2 gene have been reported to be responsible for CGL2. The aim of this study is to analyze the clinical and genetic characteristics of two Chinese patients with CGL2, and with particular focus on the BSCL2 gene sequence variants. Read More

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http://dx.doi.org/10.1016/j.gene.2017.09.023DOI Listing
December 2017
11 Reads

Clinical spectra of neuromuscular manifestations in patients with lipodystrophy: A multicenter study.

Neuromuscul Disord 2017 Oct 1;27(10):923-930. Epub 2017 Jun 1.

Department of Internal Medicine, Division of Endocrinology, Dokuz Eylul University, Izmir, Turkey.

Lipodystrophy is a heterogeneous group of disorders characterized by loss of adipose tissue. Here, we report on clinical spectra of neuromuscular manifestations of Turkish patients with lipodystrophy. Seventy-four patients with lipodystrophy and 20 healthy controls were included. Read More

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http://dx.doi.org/10.1016/j.nmd.2017.05.015DOI Listing
October 2017
15 Reads

Juvenile-onset generalized lipodystrophy due to a novel heterozygous missense LMNA mutation affecting lamin C.

Am J Med Genet A 2017 Sep 7;173(9):2517-2521. Epub 2017 Jul 7.

Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.

The LMNA gene contains 12 exons and encodes lamins A and C by alternative splicing within exon 10. While mutations in lamin A specific residues cause several diseases including lipodystrophy, progeria, muscular dystrophy, neuropathy, and cardiomyopathy, only three families with mutations in lamin C-specific residues are reported with cardiomyopathy, neuropathy, and muscular dystrophy so far. We now report two brothers with juvenile-onset generalized lipodystrophy due to a lamin C-specific mutation. Read More

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http://dx.doi.org/10.1002/ajmg.a.38341DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5593256PMC
September 2017
16 Reads

Familial partial lipodystrophy and proteinuric renal disease due to a missense c.1045C > T mutation.

Endocrinol Diabetes Metab Case Rep 2017 2;2017. Epub 2017 Jun 2.

Departments of Endocrinology.

Proteinuric renal disease is prevalent in congenital or acquired forms of generalized lipodystrophy. In contrast, an association between familial partial lipodystrophy (FPLD) and renal disease has been documented in very few cases. A 22-year-old female patient presented with impaired glucose tolerance, hyperinsulinemia, hirsutism and oligomenorrhea. Read More

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http://dx.doi.org/10.1530/EDM-17-0049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5467650PMC
June 2017
12 Reads