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    264 results match your criteria Lipodystrophy Progressive

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    Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
    Am J Med Genet A 2017 Apr 26. Epub 2017 Apr 26.
    Department of Pediatrics, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands.
    Wiedemann-Rautenstrauch syndrome (WRS) is a neonatal progeroid disorder characterized by growth retardation, lipodystrophy, a distinctive face, and dental anomalies. Patients reported to date demonstrate a remarkable variability in phenotype, which hampers diagnostics. We performed a literature search, and analyzed 51 reported patients, using the originally reported patients as "gold standard. Read More

    A homozygous FITM2 mutation causes a deafness-dystonia syndrome with motor regression and signs of ichthyosis and sensory neuropathy.
    Dis Model Mech 2017 Feb 15;10(2):105-118. Epub 2016 Dec 15.
    Institute of Biomedical and Genetic Engineering (IBGE), Islamabad 44000, Pakistan.
    A consanguineous family from Pakistan was ascertained to have a novel deafness-dystonia syndrome with motor regression, ichthyosis-like features and signs of sensory neuropathy. By applying a combined strategy of linkage analysis and whole-exome sequencing in the presented family, a homozygous nonsense mutation, c.4G>T (p. Read More

    Optic atrophy, cataracts, lipodystrophy/lipoatrophy, and peripheral neuropathy caused by a de novo OPA3 mutation.
    Cold Spring Harb Mol Case Stud 2017 Jan;3(1):a001156
    Department of Medical Genetics, University of British Columbia, Vancouver, British Columbia V6T 1Z4, Canada.
    We describe a woman who presented with cataracts, optic atrophy, lipodystrophy/lipoatrophy, and peripheral neuropathy. Exome sequencing identified a c.235C > G p. Read More

    Homozygous LIPE mutation in siblings with multiple symmetric lipomatosis, partial lipodystrophy, and myopathy.
    Am J Med Genet A 2017 Jan 11;173(1):190-194. Epub 2016 Nov 11.
    Division of Nutrition and Metabolic Diseases, Department of Internal Medicine and the Center for Human Nutrition, UT Southwestern Medical Center, Dallas, Texas.
    Despite considerable progress in identifying causal genes for lipodystrophy syndromes, the molecular basis of some peculiar adipose tissue disorders remains obscure. In an Israeli-Arab pedigree with a novel autosomal recessive, multiple symmetric lipomatosis (MSL), partial lipodystrophy and myopathy, we conducted exome sequencing of two affected siblings to identify the disease-causing mutation. The 41-year-old female proband and her 36-year-old brother reported marked accumulation of subcutaneous fat in the face, neck, axillae, and trunk but loss of subcutaneous fat from the lower extremities and progressive distal symmetric myopathy during adulthood. Read More

    Progressive Myoclonus Epilepsy in Congenital Generalized Lipodystrophy type 2: Report of 3 cases and literature review.
    Seizure 2016 Nov 5;42:1-6. Epub 2016 Sep 5.
    University Hospital of Verona, Department of Surgical Sciences, Gynecology and Pediatrics, Section of Child Neuropsychiatry, piazzale L.A. Scuro 10, 37134 Verona, Italy.
    Purpose: A small case series with a neurodegenerative disorder involving central nervous system and related to Seipin mutations was recently reported. Herein we describe clinical and EEG features of three patients presenting with Progressive Myoclonus Epilepsy (PME) and Congenital Generalized Lipodystrophy type 2 (CGL2) related to novel Seipin mutations.

    Methods: The EEG-clinical picture was evaluated at epilepsy onset and in the follow-up period. Read More

    PTRF/Cavin-1 Deficiency Causes Cardiac Dysfunction Accompanied by Cardiomyocyte Hypertrophy and Cardiac Fibrosis.
    PLoS One 2016 9;11(9):e0162513. Epub 2016 Sep 9.
    Department of Cardiovascular Medicine, Graduate School of Medical Science, Kyoto Prefectural University of Medicine, Kyoto 602-8566, Japan.
    Mutations in the PTRF/Cavin-1 gene cause congenital generalized lipodystrophy type 4 (CGL4) associated with myopathy. Additionally, long-QT syndrome and fatal cardiac arrhythmia are observed in patients with CGL4 who have homozygous PTRF/Cavin-1 mutations. PTRF/Cavin-1 deficiency shows reductions of caveolae and caveolin-3 (Cav3) protein expression in skeletal muscle, and Cav3 deficiency in the heart causes cardiac hypertrophy with loss of caveolae. Read More

    FGF21 Improves the Adipocyte Dysfunction Related to Seipin Deficiency.
    Diabetes 2016 Nov 23;65(11):3410-3417. Epub 2016 Aug 23.
    INSERM UMR S1087/CNRS UMR 6291, l'Institut du Thorax, Université de Nantes, Nantes, France
    Fibroblast growth factor 21 (FGF21) was shown to improve metabolic homeostasis, at least partly by controlling white adipocyte profile and adiponectin secretion. Here, we studied its effect on adipocyte dysfunction in the context of Berardinelli-Seip congenital lipodystrophy (BSCL) linked to seipin deficiency. Bscl2(-/-) mice displayed a progressive adipose tissue loss with aging as evidenced by the altered profile of residual fat pads and the decrease in adiponectin plasma levels in 12- vs. Read More

    Whole Exome Sequencing Reveals a BSCL2 Mutation Causing Progressive Encephalopathy with Lipodystrophy (PELD) in an Iranian Pediatric Patient.
    Iran Biomed J 2016 Nov 25;20(5):295-301. Epub 2016 Jul 25.
    Department of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran.
    Background: Progressive encephalopathy with or without lipodystrophy is a rare autosomal recessive childhood-onset seipin-associated neurodegenerative syndrome, leading to developmental regression of motor and cognitive skills. In this study, we introduce a patient with developmental regression and autism. The causative mutation was found by exome sequencing. Read More

    Skipped BSCL2 Transcript in Celia's Encephalopathy (PELD): New Insights on Fatty Acids Involvement, Senescence and Adipogenesis.
    PLoS One 2016 8;11(7):e0158874. Epub 2016 Jul 8.
    Thyroid and Metabolic Diseases Unit (U.E.T.eM.), Department of Medicine, Center for Research in Molecular Medicine and Chronic Diseases (CIMUS)-IDIS, University of Santiago de Compostela, Santiago de Compostela, Spain.
    Objective: PELD (Progressive Encephalopathy with or without Lipodystrophy or Celia's Encephalopathy) is a fatal and rare neurodegenerative syndrome associated with the BSCL2 mutation c.985C>T, that results in an aberrant transcript without the exon 7 (Celia seipin). The aim of this study was to evaluate both the process of cellular senescence and the effect of unsaturated fatty acids on preadipocytes from a homozygous c. Read More

    Raptor/mTORC1 loss in adipocytes causes progressive lipodystrophy and fatty liver disease.
    Mol Metab 2016 Jun 11;5(6):422-32. Epub 2016 Apr 11.
    Program in Molecular Medicine, University of Massachusetts Medical School, 373 Plantation Street, Worcester, MA 01605, USA.
    Objective: Normal adipose tissue growth and function is critical to maintaining metabolic homeostasis and its excess (e.g. obesity) or absence (e. Read More

    Lipodystrophy Due to Adipose Tissue-Specific Insulin Receptor Knockout Results in Progressive NAFLD.
    Diabetes 2016 Aug 10;65(8):2187-200. Epub 2016 May 10.
    Section on Integrative Physiology and Metabolism, Joslin Diabetes Center and Department of Medicine, Harvard Medical School, Boston, MA
    Ectopic lipid accumulation in the liver is an almost universal feature of human and rodent models of generalized lipodystrophy and is also a common feature of type 2 diabetes, obesity, and metabolic syndrome. Here we explore the progression of fatty liver disease using a mouse model of lipodystrophy created by a fat-specific knockout of the insulin receptor (F-IRKO) or both IR and insulin-like growth factor 1 receptor (F-IR/IGFRKO). These mice develop severe lipodystrophy, diabetes, hyperlipidemia, and fatty liver disease within the first weeks of life. Read More

    [Molecular Pathogenesis of Nasu-Hakola Disease Brain Lesions].
    Brain Nerve 2016 May;68(5):543-50
    Department of Bioinformatics and Molecular Neuropathology, Meiji Pharmaceutical University.
    Nasu-Hakola disease (NHD) is a rare intractable autosomal recessive disorder, characterized by pathological bone fractures and progressive dementia owing to multifocal bone cysts and leukoencephalopathy, caused by various genetic mutations of either DAP12 or TREM2. Loss-of-function of TREM2-DAP12, constituting a signaling complex on osteoclasts and microglia, plays a central role in the pathogenesis of NHD. Recently, NHD has been recognized as the disease entity designated "microgliopathy". Read More

    Mandibuloacral dysplasia and LMNA A529V mutation in Turkish patients with severe skeletal changes and absent breast development.
    Clin Dysmorphol 2016 Jul;25(3):91-7
    aMikrogen Genetic Diagnosis Center bGen-Art IVF Center cDepartment of Pediatric Genetics, Hacettepe University Faculty of Medicine, Ankara Departments of dHistology and Embryology eMedical Biology and Genetics, Istanbul Bilim University School of Medicine, Istanbul fDepartment of Medical Genetics, Firat University Faculty of Medicine, Elazig, Turkey.
    Mandibuloacral dysplasia (MAD) is an autosomal recessive disorder characterized by acroosteolysis (resorption of terminal phalanges), skin changes (hyperpigmentation), clavicular hypoplasia, craniofascial anomalies, a hook nose and prominent eyes, delayed closures of the cranial sutures, lipodystrophy, alopecia, and skeletal anomalies. MAD patients are classified according to lipodystrophy patterns: type A and type B. The vast majority of MAD cases are caused by LMNA gene mutations. Read More

    Barraquer-Simons syndrome: a rare form of acquired lipodystrophy.
    BMC Res Notes 2016 Mar 18;9:175. Epub 2016 Mar 18.
    Department of Endocrinology, Diabetes and Metabolism, Centro Hospitalar São João, Alameda Prof. Hernâni Monteiro, 4200, Porto, Portugal.
    Background: Human lipodystrophies are uncommon disorders, with important clinical consequences, which are often undiagnosed. The Barraquer-Simons syndrome is a form of partial symmetric lipodystrophy of unknown etiology, characterized by the loss of subcutaneous adipose tissue, limited to upper part of the body. Insulin resistance and metabolic complications are less common than with other lipodystrophy subtypes. Read More

    Fitting the pieces of the puzzle together: a case report of the Dunnigan-type of familial partial lipodystrophy in the adolescent girl.
    BMC Pediatr 2016 Mar 14;16:38. Epub 2016 Mar 14.
    MEDGEN Medical Center, Orzycka 27, 02-695, Warsaw, Poland.
    Background: Familial partial lipodystrophy of the Dunnigan type (FPLD 2) is a rare autosomal dominant disorder caused by the mutations of the lamin A/C gene leading to the defective adipogenesis, premature death of adipocytes and lipotoxicity. FPLD 2 is characterized by a progressive loss of subcutaneous adipose tissue in the limbs and trunk, and accumulation of body fat in the face and neck with accompanying severe metabolic derangements including insulin resistance, glucose intolerance, diabetes, dyslipidemia, steatohepatitis. Clinical presentation of FPLD 2 can often lead to misdiagnosis with metabolic syndrome, type 2 diabetes or Cushing syndrome. Read More

    Progressive Generalized Lipodystrophy as a Manifestation of Autoimmune Polyglandular Syndrome Type 1.
    J Clin Endocrinol Metab 2016 Apr 18;101(4):1344-7. Epub 2016 Feb 18.
    Endocrinology Department (E.S.), IM Sechenov First Moscow State Medical University, 119991 Moscow, Russia; Outpatient Clinic (E.F.), Gastroenterology Department (D.R., S.P.), and Healthy and Sick Child Nutrition Department (E.R.), Scientific Center for Children's Health, 119991 Moscow, Russia; Department and Laboratory of Inherited Endocrine Disorders (E.V., V.P., A.T.), Endocrinology Research Centre, 117036 Moscow, Russia; and Laboratory of Molecular Endocrinology of Medical Scientific Educational Centre of Lomonosov (A.T.), Moscow State University, 119991 Moscow, Russia.
    We describe APS1 in a boy with generalized lipodystrophy, oral candidiasis, autoimmune hepatitis and adrenal insufficiency. It is the first time when generalized lipodystrophy is associated with APS1. Read More

    Additive loss-of-function proteasome subunit mutations in CANDLE/PRAAS patients promote type I IFN production.
    J Clin Invest 2015 Nov 20;125(11):4196-211. Epub 2015 Oct 20.
    Autosomal recessive mutations in proteasome subunit β 8 (PSMB8), which encodes the inducible proteasome subunit β5i, cause the immune-dysregulatory disease chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature (CANDLE), which is classified as a proteasome-associated autoinflammatory syndrome (PRAAS). Here, we identified 8 mutations in 4 proteasome genes, PSMA3 (encodes α7), PSMB4 (encodes β7), PSMB9 (encodes β1i), and proteasome maturation protein (POMP), that have not been previously associated with disease and 1 mutation in PSMB8 that has not been previously reported. One patient was compound heterozygous for PSMB4 mutations, 6 patients from 4 families were heterozygous for a missense mutation in 1 inducible proteasome subunit and a mutation in a constitutive proteasome subunit, and 1 patient was heterozygous for a POMP mutation, thus establishing a digenic and autosomal dominant inheritance pattern of PRAAS. Read More

    Case of Rapid Progression of Hemiatrophy on the Face: A New Clinical Entity?
    Case Rep Dermatol Med 2015 25;2015:478640. Epub 2015 Aug 25.
    Department of Dermatology, Shizuoka Municipal Shimizu Hospital, 1231 Miyakami, Shimizu-ku Shizuoka 424-0911, Japan.
    A lot of diseases, including lupus profundus, morphea, lipodystrophy, and Parry-Romberg syndrome, may manifest progressive hemifacial atrophy. These diseases usually progress slowly and rapid progression of atrophy is extremely rare. We report a case of elderly-onset rapid progression of hemifacial atrophy only in three weeks. Read More

    TREM2 mRNA Expression in Leukocytes Is Increased in Alzheimer's Disease and Schizophrenia.
    PLoS One 2015 2;10(9):e0136835. Epub 2015 Sep 2.
    Department of Neuropsychiatry, Molecules and Function, Ehime University Graduate School of Medicine, Toon, Ehime, Japan.
    Unlabelled: TREM2 and TYROBP are causal genes for Nasu-Hakola disease (NHD), a rare autosomal recessive disease characterized by bone lesions and early-onset progressive dementia. TREM2 forms a receptor signaling complex with TYROBP, which triggers the activation of immune responses in macrophages and dendritic cells, and the functional polymorphism of TREM2 is reported to be associated with neurodegenerative disorders such as Alzheimer's disease (AD). The objective of this study was to reveal the involvement of TYROBP and TREM2 in the pathophysiology of AD and schizophrenia. Read More

    Larger aggregates of mutant seipin in Celia's Encephalopathy, a new protein misfolding neurodegenerative disease.
    Neurobiol Dis 2015 Nov 15;83:44-53. Epub 2015 Aug 15.
    CIMUS Biomedical Research Institute, University of Santiago de Compostela-IDIS, 15782 Santiago de Compostela, Spain; Department of Medicine, University of Santiago de Compostela, 15782 Santiago de Compostela, Spain. Electronic address:
    Celia's Encephalopathy (MIM #615924) is a recently discovered fatal neurodegenerative syndrome associated with a new BSCL2 mutation (c.985C>T) that results in an aberrant isoform of seipin (Celia seipin). This mutation is lethal in both homozygosity and compounded heterozygosity with a lipodystrophic BSCL2 mutation, resulting in a progressive encephalopathy with fatal outcomes at ages 6-8. Read More

    Acquired partial lipodystrophy is associated with increased risk for developing metabolic abnormalities.
    Metabolism 2015 Sep 10;64(9):1086-95. Epub 2015 Jun 10.
    Dokuz Eylul University, Division of Endocrinology, Izmir, Turkey.
    Objective: Acquired partial lipodystrophy (APL) is a rare disorder characterized by progressive selective fat loss. In previous studies, metabolic abnormalities were reported to be relatively rare in APL, whilst they were quite common in other types of lipodystrophy syndromes.

    Methods: In this nationwide cohort study, we evaluated 21 Turkish patients with APL who were enrolled in a prospective follow-up protocol. Read More

    Metabolic disorders and cardiovascular risk in treatment-naive HIV-infected patients of sub-saharan origin starting antiretrovirals: impact of westernized lifestyle.
    AIDS Res Hum Retroviruses 2015 Apr 17;31(4):384-92. Epub 2015 Mar 17.
    1 Department of Infectious Diseases and Tropical Medicine, Treichville University Hospital , Abidjan, Côte d'Ivoire.
    In a cohort of HIV-infected patients of sub-Saharan origin we describe the incidence of metabolic syndrome, insulin resistance, and lipodystrophy after 3 years of combined antiretroviral therapy, and model the 10-year risk of cardiovascular diseases, while taking into account environmental factors. This is a multinational, prospective cohort study conducted in HIV outpatient clinics from four tertiary care centers set in France and Côte d'Ivoire. The participants were HIV-infected, treatment-naive patients eligible to start antiretroviral treatment and were of sub-Saharan African origin. Read More

    Increasing Obesity in Treated Female HIV Patients from Sub-Saharan Africa: Potential Causes and Possible Targets for Intervention.
    Front Immunol 2014 13;5:507. Epub 2014 Nov 13.
    Clinical Infection Unit & Department of Genitourinary Medicine, St. George's Healthcare NHS Trust , London , UK ; Infection and Immunity Research Institute, St. George's, University of London , London , UK.
    Objectives: To investigate changing nutritional demographics of treated HIV-1-infected patients and explore causes of obesity, particularly in women of African origin.

    Methods: We prospectively reviewed nutritional demographics of clinic attenders at an urban European HIV clinic during four one-month periods at three-yearly intervals (2001, 2004, 2007, and 2010) and in two consecutive whole-year reviews (2010-2011 and 2011-2012). Risk-factors for obesity were assessed by multiple linear regression. Read More

    Long-term fat redistribution in ARV-naïve HIV+ patients initiating a non-thymidine containing regimen in clinical practice.
    J Int AIDS Soc 2014 2;17(4 Suppl 3):19553. Epub 2014 Nov 2.
    Infectious diseases, Hospital Universitari de Bellvitge, Barcelona, Spain.
    Introduction: Lipodystrophy is still a matter of concern in HIV+ patients receiving ART. However, long-term fat change in patients taking non-thymidine regimens is not well known.

    Materials And Methods: A prospective ongoing fat change assessment including clinical evaluation and dexa scans (Hologic QDR 4500) is being conducted in all consecutive patients initiating ART from January 2008. Read More

    Mandibuloacral dysplasia type A-associated progeria caused by homozygous LMNA mutation in a family from Southern China.
    BMC Pediatr 2014 Oct 7;14:256. Epub 2014 Oct 7.
    Department of Dermatology, The Eastern Hospital of The First Affiliated Hospital, Sun Yat-sen University, Guangzhou 510700, China.
    Background: Mandibuloacral dysplasia type A (MADA) is a rare autosomal recessive disorder, characterized by growth retardation, skeletal abnormality with progressive osteolysis of the distal phalanges and clavicles, craniofacial anomalies with mandibular hypoplasia, lipodystrophy and mottled cutaneous pigmentation. Some patients may show progeroid features. MADA with partial lipodystrophy, more marked acral, can be caused by homozygous or compound heterozygous mutation in the gene encoding lamin A and lamin C (LMNA). Read More

    [Congenital generalized lipodystrophy in a patient with Dandy Walker anomaly].
    Arch Argent Pediatr 2014 Oct;112(5):e196-9
    Servicio de Clínica Pediátrica, Hospital Zonal Especializado Dr. Noel H. Sbarra.
    The objective of this study is to describe the unexpected association between the congenital generalized lipodystrophy (CGL) and Dandy Walker anomaly. We report the case of a 1-year-old infant who was hospitalized at her fourth month of life with Dandy Walker anomaly diagnosis and an increased social risk. During her hospitalization, she developed progressively: acromegaloid aspect, triangular fascia, hirsutism, lipoatrophy, muscle hypertrophy, clitoromegaly, abdominal distention, progressive hepatomegaly, and hypertriglyceridemia. Read More

    Deletion of serine/arginine-rich splicing factor 3 in hepatocytes predisposes to hepatocellular carcinoma in mice.
    Hepatology 2015 Jan 25;61(1):171-83. Epub 2014 Nov 25.
    Medical Research Service, VA San Diego Healthcare System, San Diego, CA; Department of Medicine, Division of Endocrinology and Metabolism, University of California San Diego, La Jolla, CA.
    Unlabelled: Alterations in RNA splicing are associated with cancer, but it is not clear whether they result from malignant transformation or have a causative role. We show here that hepatocyte-specific deletion of serine/arginine-rich splicing factor 3 (SRSF3) impairs hepatocyte maturation and metabolism in early adult life, and mice develop spontaneous hepatocellular carcinoma (HCC) with aging. Tumor development is preceded by chronic liver disease with progressive steatosis and fibrosis. Read More

    Identification of a novel mutation in the polymerase delta 1 (POLD1) gene in a lipodystrophic patient affected by mandibular hypoplasia, deafness, progeroid features (MDPL) syndrome.
    Metabolism 2014 Nov 25;63(11):1385-9. Epub 2014 Jul 25.
    Obesity Center, Endocrinology Unit, University Hospital of Pisa, Italy. Electronic address:
    Objective: Progressive lipodystrophy is one of the major features of the rare MDPL syndrome. Until now, 9 patients affected by this syndrome have been described and a recent study identified in 4 of them an in-frame deletion (Ser605del) of a single codon in the POLD1 gene. Sequence alterations of the POLD1 gene at different sites have been previously reported in human colorectal and endometrial carcinomas. Read More

    Lack of testicular seipin causes teratozoospermia syndrome in men.
    Proc Natl Acad Sci U S A 2014 May 28;111(19):7054-9. Epub 2014 Apr 28.
    State Key Laboratory of Reproductive Medicine, Department of Histology and Embryology, Nanjing Medical University, Nanjing 210029, China;
    Obesity impairs male fertility, providing evidence for a link between adipose tissue and reproductive function; however, potential consequences of adipose tissue paucity on fertility remain unknown. Lack of s.c. Read More

    The natural history of HIV-associated lipodystrophy in the changing scenario of HIV infection.
    HIV Med 2014 Nov 21;15(10):587-94. Epub 2014 Apr 21.
    Infectious Diseases Clinics, Policlinico University Hospital, Modena, Italy.
    Objectives: In long-term HIV-infected patients, peripheral lipoatrophy (LA) and central lipohypertrophy (LH) appear to be related to the same insults (virus and antiretroviral drugs), but are likely to be associated with different fat depot physiologies. The objective of this study was to describe the natural history of lipodystrophy assessed using dual energy X-ray absorptiometry (DEXA) and computed tomography (CT) in a large HIV out-patients metabolic clinic.

    Methods: An observational retrospective study was carried out including HIV-infected patients recruited at the Metabolic Clinic of Modena, Modena, Italy, who were assessed for lipodystrophy and had at least two anthropometric evaluations using DEXA for leg fat per cent mass and abdominal CT for visceral adipose tissue (VAT). Read More

    Nasu-Hakola disease as suspected cause for bone disease and dementia.
    J Clin Rheumatol 2014 Apr;20(3):160-2
    From the *Rheumatic Diseases Research Center (RDRC), School of Medicine, †Radiology Department, Ghaem Hospital, School of Medicine, and ‡Avicenna Hospital, School of Medicine, Mashhad University of Medical Sciences, Mashhad, Islamic Republic of Iran.
    Progressive dementia in conjunction with multiple bone fractures in a previously healthy young man led to the investigation of the underlying cause. The differential diagnoses (most importantly hypoparathyroidism) were limited given basal ganglia calcifications on the brain computed tomographic scan. Electronic search of the key words basal ganglia calcification, osteoporosis, and dementia revealed a rare condition termed Nasu-Hakola disease or polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy. Read More

    Adipose-specific knockout of SEIPIN/BSCL2 results in progressive lipodystrophy.
    Diabetes 2014 Jul 12;63(7):2320-31. Epub 2014 Mar 12.
    School of Biotechnology and Biomolecular Sciences, the University of New South Wales, Sydney, NSW, Australia
    Berardinelli-Seip congenital lipodystrophy type 2 (BSCL2) is the most severe form of human lipodystrophy, characterized by an almost complete loss of adipose tissue and severe insulin resistance. BSCL2 is caused by loss-of-function mutations in the BSCL2/SEIPIN gene, which is upregulated during adipogenesis and abundantly expressed in the adipose tissue. The physiological function of SEIPIN in mature adipocytes, however, remains to be elucidated. Read More

    C9ORF72 expansion does not affect the phenotype in Nasu-Hakola disease with the DAP12 mutation.
    Neurobiol Aging 2014 Jul 5;35(7):1780.e13-7. Epub 2014 Feb 5.
    Institute of Clinical Medicine-Neurology, University of Eastern Finland, Kuopio, Finland; Department of Neurology, Kuopio University Hospital, Kuopio, Finland. Electronic address:
    Nasu-Hakola disease (NHD) is a rare autosomal recessive disease that is characterized by cyst-like bone lesions and pathologic fractures combined with an early-onset frontal type of dementia. Mutations in DNAX-activation protein 12 (DAP12) and triggering receptor expressed on myeloid cells 2 (TREM2) are the known genetic causes of NHD. However, the role of both these genes in the neurodegenerative process is still partly unclear, and the input of other modifying factors has been postulated. Read More

    Fat storage-inducing transmembrane protein 2 is required for normal fat storage in adipose tissue.
    J Biol Chem 2014 Apr 11;289(14):9560-72. Epub 2014 Feb 11.
    From the Signature Research Program in Cardiovascular and Metabolic Disorders and.
    Triglycerides within the cytosol of cells are stored in a phylogenetically conserved organelle called the lipid droplet (LD). LDs can be formed at the endoplasmic reticulum, but mechanisms that regulate the formation of LDs are incompletely understood. Adipose tissue has a high capacity to form lipid droplets and store triglycerides. Read More

    LMNA gene mutation as a model of cardiometabolic dysfunction: from genetic analysis to treatment response.
    Diabetes Metab 2014 Jun 28;40(3):224-8. Epub 2014 Jan 28.
    Department of Pediatric Sciences, University of Messina, Messina, Italy.
    Aim: This report highlights the metabolic, endocrine and cardiovascular comorbidities in a case of familial partial lipodystrophy (FPLD), and also evaluates the efficacy and safety of metformin therapy.

    Methods: Mutational analysis was carried out of the LMNA gene in a teenage girl with an FPLD phenotype. Insulin resistance, sex hormones and metabolic parameters were also evaluated, and echocardiography, electrocardiography and 24-h blood pressure monitoring were also done. Read More

    FDG-PET imaging in HIV infection and tuberculosis.
    Semin Nucl Med 2013 Sep;43(5):349-66
    Department of Nuclear Medicine, University of Pretoria, Pretoria, South Africa.
    The intersection and syndemic interaction between the human immunodeficiency virus (HIV) and tuberculosis (TB) epidemics have global prevalence with devastating morbidity and massive mortality. Using FDG-PET imaging it was shown that in HIV-infected individuals, involvement of the head and neck precedes that of the chest and of the abdomen. The sequence of lymph node involvement observed suggests the existence of a diffusible activation mediator that may be targeted via therapeutic intervention strategies. Read More

    Lifespan extension by dietary intervention in a mouse model of Cockayne syndrome uncouples early postnatal development from segmental progeria.
    Aging Cell 2013 Dec 11;12(6):1144-7. Epub 2013 Sep 11.
    Department of Genetics and Complex Diseases, Harvard School of Public Health, 655 Huntington Ave, Boston, MA, 02115, USA.
    Cockayne syndrome (CS) is a rare autosomal recessive segmental progeria characterized by growth failure, lipodystrophy, neurological abnormalities, and photosensitivity, but without skin cancer predisposition. Cockayne syndrome life expectancy ranges from 5 to 16 years for the two most severe forms (types II and I, respectively). Mouse models of CS have thus far been of limited value due to either very mild phenotypes, or premature death during postnatal development prior to weaning. Read More

    Parry-Romberg syndrome vasculopathy and its treatment with botulinum toxin.
    Ophthal Plast Reconstr Surg 2014 Jan-Feb;30(1):e22-5
    *Massachusetts Eye and Ear Infirmary, Department of Ophthalmology, Harvard Medical School, Quincy; †Cambridge, Quincy, Massachusetts; ‡Department of Neuroradiology, Massachusetts General Hospital, Boston, Massachusetts; and §Department of Anesthesia, Tufts University School of Medicine, Saint Elizabeth's Hospital, Brighton, Massachusetts, U.S.A.
    Parry-Romberg syndrome is a rare condition characterized by progressive, hemifacial atrophy, hair loss, enophthalmos, retinal vasculopathy occasionally associated with hemicranial pain syndrome (secondary trigeminal neuralgia). The cause of the condition is unknown; however, substantial evidence suggests that vasculopathy plays a significant role in the genesis of the neurologic damage and facial lipodystrophy. Herein describes a case of Parry-Romberg syndrome treated with repetitive botulinum type A toxin injections, with almost complete resolution of severe chronic pain. Read More

    Emery-Dreifuss muscular dystrophy, laminopathies, and other nuclear envelopathies.
    Handb Clin Neurol 2013 ;113:1367-76
    Inserm, U974; Université Pierre et Marie Curie - Paris 6, UM 76; CNRS, UMR 7215; Institut de Myologie, and AP-HP - U.F. Cardiogénétique et Myogénétique, Groupe Hospitalier Pitié-Salpêtrière, Paris, France. Electronic address:
    The nuclear envelopathies, more frequently known as laminopathies are a rapidly expanding group of human hereditary diseases caused by mutations of genes that encode proteins of the nuclear envelope. The most frequent and best known form is Emery-Dreifuss muscular dystrophy (EDMD), a skeletal myopathy characterized by progressive muscular weakness, joint contractures, and cardiac disease. EMD gene, encoding emerin, causes the X-linked form of EDMD, while LMNA gene encoding lamins A and C, is responsible for autosomal forms, usually with a dominant transmission. Read More

    Recurrent stroke as a presenting feature of acquired partial lipodystrophy.
    Indian J Endocrinol Metab 2012 Dec;16(Suppl 2):S455-7
    Department of Endocrinology, Narayana Medical College, & Hospital, ChinthareddyPalem, Nellore, District, Andhra Pradesh, India.
    Acquired partial lipodystrophy (PL) (Barraquer-Simons syndrome) is a rare condition with onset in childhood, and it is characterized by progressive loss of subcutaneous fat in a cephalocaudal fashion. This report describes a case of acquired PL in a 16-year-old girl, who had progressive loss of facial fat since 3 years. Systemic lupus erythematosus (SLE), anticardiolipin antibody, primary hypothyroidism, diabetes, and dyslipidemia may antedate the development of complications such as cerebrovascular stroke and cardiovascular disease. Read More

    Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL): a new report of an Italian woman and review of the literature.
    J Neurol Sci 2013 Mar 9;326(1-2):115-9. Epub 2013 Feb 9.
    Neuro-Oncology Unit, Fondazione IRCCS Istituto Neurologico C. Besta, Via Celoria 11, 20133 Milan, Italy.
    We report the clinical case of a 43year old Italian woman and her family with Polycystic Lipomembranous Osteodysplasia with Sclerosing Leukoencephalopathy (PLOSL), also known as Nasu-Hakola disease. PLOSL is a unique disease clinically characterized by a progressive presenile frontal-lobe dementia and multiple cystic bone lesions, typically leading to fractures of the limbs in the third decade of life. This rare recessively inherited disease is caused by mutations in one of two genes encoding different subunits of a receptor signalling complex, TYROBP and TREM2. Read More

    Hypertrophied facial fat in an HIV-1-infected patient after autologous transplantation from 'buffalo hump' retains a partial brown-fat-like molecular signature.
    Antivir Ther 2013 23;18(4):635-9. Epub 2013 Jan 23.
    Department of Biochemistry and Molecular Biology, and Institute of Biomedicine (IBUB), University of Barcelona, and CIBER Fisiopatologia de la Obesidad y Nutricion, Instituto de Salud Carlos III, Ministerio de Sanidad y Consumo, Madrid, Spain.
    Background: Facial lipoatrophy, a common alteration among HIV-1-infected, antiretroviral-treated patients, is often corrected using autologous transplantation. In some cases, especially when enlarged adipose tissue from the dorso-cervical area (that is, a 'buffalo hump') is used as a source of fat for transplantation, the transplanted fat develops progressive hypertrophy. To gain insight into the molecular basis of this phenomenon, we evaluated the cell morphology and gene expression in this hypertrophied facial fat. Read More

    Impact of switching from zidovudine/lamivudine to tenofovir/emtricitabine on lipoatrophy: the RECOMB study.
    HIV Med 2013 Jul 9;14(6):327-36. Epub 2013 Jan 9.
    Infectious Diseases Division, Hospital Universitari Vall d'Hebron, Autonomous University of Barcelona, Barcelona, Spain.
    Objectives: Lipoatrophy is a long-term adverse effect of some antiretrovirals that affects quality of life, compromises adherence and may limit the clinical impact of HIV treatments. This paper explores the effect of tenofovir/emtricitabine (TDF/FTC) on the amount of limb fat in patients with virological suppression.

    Methods: A randomized, prospective clinical trial was performed to compare continuation on a zidovudine/lamivudine (ZDV/3TC)-based regimen with switching to a TDF/FTC-based regimen in terms of the effect on limb fat mass as assessed by DEXA over a 72-week period. Read More

    Differences in the clinical spectrum of two adolescent male patients with Alström syndrome.
    Clin Dysmorphol 2013 Jan;22(1):7-12
    Mother and Child Healthcare Institute of Serbia, School of Medicine, University of Belgrade, Belgrade, Serbia.
    Alström syndrome is a rare disorder typified by early childhood obesity, neurosensory deficits, cardiomyopathy, progressive renal and hepatic dysfunction, and endocrinological features such as severe insulin resistance, type 2 diabetes, hyperlipidemia, and hypogonadism. Widespread fibrosis leads to multiple organ failure. Mutations in ALMS1 cause Alström syndrome. Read More

    Imaging findings of Nasu-Hakola disease: a case report.
    Clin Imaging 2012 Nov-Dec;36(6):877-80. Epub 2012 Jun 8.
    Department of Radiology, Gazi University School of Medicine, Beşevler, Ankara, Turkey.
    Nasu-Hakola disease (NHD), also known as polycystic lipomembranous osteodysplasia and sclerosing leukoencephalopathy, is a rare and fatal hereditary disease with less than 200 cases reported in the literature [Madry H, Prudlo J, Grgic A, Freyschmidt J. Nasu-Hakola disease (PLOSL): report of five cases and review of the literature. Clin Orthop Relat Res 2007;454:262-269]. Read More

    Phase I study of nelfinavir in liposarcoma.
    Cancer Chemother Pharmacol 2012 Dec 16;70(6):791-9. Epub 2012 Sep 16.
    Department of Medical Oncology, City of Hope, Duarte, CA 91010, USA.
    Purpose: HIV protease inhibitors are associated with HIV protease inhibitor-related lipodystrophy syndrome. We hypothesized that liposarcomas would be similarly susceptible to the apoptotic effects of an HIV protease inhibitor, nelfinavir.

    Methods: We conducted a phase I trial of nelfinavir for liposarcomas. Read More

    Severe symmetrical facial lipoatrophy in a patient with discoid lupus erythematosus.
    J Craniofac Surg 2012 Sep;23(5):e461-3
    Department of Plastic and Reconstructive Surgery, Sisli Etfal Research and Training Hospital, Istanbul, Turkey.
    Acquired partial lipodystrophy is a rare disorder, and it is characterized by the absence of subcutaneous fat from the face, the neck, the trunk, and the upper extremities. The etiology of acquired partial lipodystrophy includes scleroderma and discoid lupus erythematosus. Literature review reveals studies involving 10 patients until today with lipoatrophy due to or after the onset of discoid lupus erythematosus; all are female patients. Read More

    A Chinese patient with acquired partial lipodystrophy caused by a novel mutation with LMNB2 gene.
    J Pediatr Endocrinol Metab 2012 ;25(3-4):375-7
    Department of Pediatrics, Tongji Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan 430030, China.
    Acquired partial lipodystrophy (APL) is a rare disorder, mainly characterized by progressive loss of subcutaneous fatty tissue, starting from the face and spreading to the upper part of the body. The etiology of APL is unknown. It may be caused by mutations in the lamin B 2 (LMNB2) gene on 19p13. Read More

    Nakajo-Nishimura syndrome: an autoinflammatory disorder showing pernio-like rashes and progressive partial lipodystrophy.
    Allergol Int 2012 Jun 25;61(2):197-206. Epub 2012 Mar 25.
    Department of Dermatology, Wakayama Medical University, Wakayama, Japan.
    Nakajo-Nishimura syndrome (ORPHA2615; also registered as Nakajo syndrome in OMIM#256040) is a distinct inherited inflammatory and wasting disease, originally reported from Japan. This disease usually begins in early infancy with a pernio-like rash, especially in winter. The patients develop periodic high fever and nodular erythema-like eruptions, and gradually progress lipomuscular atrophy in the upper body, mainly the face and the upper extremities, to show the characteristic thin facial appearance and long clubbed fingers with joint contractures. Read More

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