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Article ; Online: Heart and Turner syndrome.

Donadille, Bruno / Christin-Maitre, Sophie

2020 Volume 82, Issue 3-4, Page(s) 135–140

Abstract: Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic ... ...

Abstract	Turner syndrome (TS) is a rare disease (ORPHA #881) which affects about 50 in 100 000 newborn girls. Their karyotype shows a complete or partial loss of the second X chromosome. In TS, congenital cardiovascular malformations, such as bicuspid aortic valves and aortic coarctation are frequent, affecting 20-30% and 7-18% of the TS population, respectively. The morbidity and mortality of these patients are high and related to the presence of hypertension and/or aortic dilatation (40%), inducing aortic dissection. European guidelines published in 2017 have indicated how to monitor patients using magnetic resonance imaging (MRI) and/or echography. Different studies have shown that a cardiovascular lifelong follow-up is necessary and therefore education of patients with TS and their families represents a major issue. This review will present recent data concerning the progression of aortic diameters as well as current molecular knowledge of the cardiovascular system in patients with TS.
MeSH term(s)	Aortic Coarctation/diagnosis ; Aortic Coarctation/epidemiology ; Aortic Coarctation/genetics ; Female ; Heart/physiology ; Humans ; Infant, Newborn ; Magnetic Resonance Imaging ; Turner Syndrome/diagnosis ; Turner Syndrome/epidemiology ; Turner Syndrome/genetics ; Turner Syndrome/physiopathology
Language	English
Publishing date	2020-12-08
Publishing country	France
Document type	Journal Article ; Review
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2020.12.004
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Article ; Online: Focus on Liver Function Abnormalities in Patients With Turner Syndrome: Risk Factors and Evaluation of Fibrosis Risk.

Bourcigaux, Nathalie / Dubost, Emma / Buzzi, Jean-Claude / Donadille, Bruno / Corpechot, Christophe / Poujol-Robert, Armelle / Christin-Maitre, Sophie

The Journal of clinical endocrinology and metabolism

2023 Volume 108, Issue 9, Page(s) 2255–2261

Abstract: Context: Liver function abnormalities (LFAs) have been described in patients with Turner syndrome (TS). Although a high risk of cirrhosis has been reported, there is a need to assess the severity of liver damage in a large cohort of adult patients with ... ...

Abstract	Context: Liver function abnormalities (LFAs) have been described in patients with Turner syndrome (TS). Although a high risk of cirrhosis has been reported, there is a need to assess the severity of liver damage in a large cohort of adult patients with TS. Objective: Evaluate the types of LFAs and their respective prevalence, search for their risk factors, and evaluate the severity of liver impairment by using a noninvasive fibrosis marker. Methods: This was a monocentric retrospective cross-sectional study. Data were collected during a day hospital visit. The main outcome measures were liver enzymes (alanine aminotransferase, aspartate aminotransferase, gamma-glutamyl transferase, alkaline phosphatase), FIB-4 score, liver ultrasound imaging, elastography, and liver biopsies, when available. Results: 264 patients with TS were evaluated at a mean age of 31.15 ± 11.48 years. The overall prevalence of LFAs was 42.8%. The risk factors were age, body mass index, insulin resistance, and an X isochromosome (Xq). The mean FIB-4 sore of the entire cohort was 0.67 ± 0.41. Less than 10% of patients were at risk of developing fibrosis. Cirrhosis was observed in 2/19 liver biopsies. There was no significant difference in the prevalence of LFAs between premenopausal patients with natural cycles and those receiving hormone replacement therapy (P = .063). A multivariate analysis adjusted for age showed no statistically significant correlation between hormone replacement therapy and abnormal gamma-glutamyl transferase levels (P = .12). Conclusion: Patients with TS have a high prevalence of LFA. However, 10% are at high risk of developing fibrosis. The FIB-4 score is useful and should be part of the routine screening strategy. Longitudinal studies and better interactions with hepatologists should improve our knowledge of liver disease in patients with TS.
MeSH term(s)	Adult ; Humans ; Young Adult ; Retrospective Studies ; Turner Syndrome/complications ; Turner Syndrome/epidemiology ; Turner Syndrome/pathology ; Cross-Sectional Studies ; Liver Diseases/epidemiology ; Liver/pathology ; Liver Cirrhosis/diagnosis ; Liver Cirrhosis/epidemiology ; Liver Cirrhosis/etiology ; Risk Factors ; gamma-Glutamyltransferase
Chemical Substances	gamma-Glutamyltransferase (EC 2.3.2.2)
Language	English
Publishing date	2023-03-13
Publishing country	United States
Document type	Journal Article
ZDB-ID	3029-6
ISSN	1945-7197 ; 0021-972X
ISSN (online)	1945-7197
ISSN	0021-972X
DOI	10.1210/clinem/dgad108
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Article ; Online: Diagnostic and referral pathways in patients with rare lipodystrophy and insulin-resistance syndromes: key milestones assessed from a national reference center.

Donadille, Bruno / Janmaat, Sonja / Mosbah, Héléna / Belalem, Inès / Lamothe, Sophie / Nedelcu, Mariana / Jannot, Anne-Sophie / Christin-Maitre, Sophie / Fève, Bruno / Vatier, Camille / Vigouroux, Corinne

Orphanet journal of rare diseases

2024 Volume 19, Issue 1, Page(s) 177

Abstract: Background: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications.: Objective: We aimed to evaluate the ... ...

Abstract	Background: Rare syndromes of lipodystrophy and insulin-resistance display heterogeneous clinical expressions. Their early recognition, diagnosis and management are required to avoid long-term complications. Objective: We aimed to evaluate the patients' age at referral to our dedicated national reference center in France and their elapsed time from first symptoms to diagnosis and access to specialized care. Patients and methods: We analyzed data from patients with rare lipodystrophy and insulin-resistance syndromes referred to the coordinating PRISIS reference center (Adult Endocrine Department, Saint-Antoine Hospital, AP-HP, Paris), prospectively recorded between 2018 and 2023 in the French National Rare Disease Database (BNDMR, Banque Nationale de Données Maladies Rares). Results: A cohort of 292 patients was analyzed, including 208 women, with the following diagnosis: Familial Partial LipoDystrophy (FPLD, n = 124, including n = 67 FPLD2/Dunnigan Syndrome); Acquired lipodystrophy syndromes (n = 98, with n = 13 Acquired Generalized Lipodystrophy, AGL); Symmetric cervical adenolipomatosis (n = 27, Launois-Bensaude syndrome, LB), Congenital generalized lipodystrophy (n = 18, CGL) and other rare severe insulin-resistance syndromes (n = 25). The median age at referral was 47.6 years [IQR: 31-60], ranging from 25.2 (CGL) to 62.2 years old (LB). The median age at first symptoms of 27.6 years old [IQR: 16.8-42.0]) and the median diagnostic delay of 6.4 years [IQR: 1.3-19.5] varied among diagnostic groups. The gender-specific expression of lipodystrophy is well-illustrated in the FPLD2 group (91% of women), presenting with first signs at 19.3 years [IQR: 14.4-27.8] with a diagnostic delay of 10.5 years [IQR: 1.8-27.0]. Conclusion: The national rare disease database provides an important tool for assessment of care pathways in patients with lipodystrophy and rare insulin-resistance syndromes in France. Improving knowledge to reduce diagnostic delay is an important objective of the PRISIS reference center.
MeSH term(s)	Humans ; Female ; Male ; Insulin Resistance/physiology ; Lipodystrophy/diagnosis ; Lipodystrophy/metabolism ; Adult ; Middle Aged ; Young Adult ; France ; Adolescent ; Referral and Consultation
Language	English
Publishing date	2024-04-27
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2225857-7
ISSN	1750-1172 ; 1750-1172
ISSN (online)	1750-1172
ISSN	1750-1172
DOI	10.1186/s13023-024-03173-2
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Article ; Online: How can we make pregnancy safe for women with Turner syndrome?

Donadille, Bruno / Bernard, Valérie / Christin-Maitre, Sophie

American journal of medical genetics. Part C, Seminars in medical genetics

2019 Volume 181, Issue 1, Page(s) 100–107

Abstract: Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal ...

Abstract	Pregnancy is a crucial issue in patients with Turner syndrome (TS). Although natural pregnancies have been reported in 4-7% of TS patients, most women will need assisted reproductive technologies (ART) with oocyte donation. The main issue is the maternal mortality rate that is higher than in the general population. It is related to cardiovascular anomalies and particularly aortic dissection. TS, per se, is not a contraindication for pregnancy, but a multidisciplinary screening is mandatory before initiating a pregnancy. It includes repeated aortic diameters evaluation, blood pressure measurement and biological testing evaluating thyroid and liver functions, as well as blood glucose level. In order to make the pregnancy safe, contraindications of pregnancy should be respected and identification of high-risk patients for cardiovascular events should be performed. Hypertension and pre-eclampsia prevention may benefit from beta-blockers and aspirin, respectively. Collaborations between endocrinologists, cardiologists, and obstetricians are mandatory during pregnancy and even in the postpartum period. Counseling the patients about the risks of pregnancy, screening them and spreading the international guidelines to physicians taking care of patients with TS are the three pillars of a safe pregnancy.
MeSH term(s)	Female ; Humans ; Oocyte Donation ; Pregnancy ; Pregnancy Complications, Cardiovascular ; Risk Assessment ; Turner Syndrome/complications ; Turner Syndrome/physiopathology
Language	English
Publishing date	2019-02-15
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2108622-9
ISSN	1552-4876 ; 0148-7299 ; 1552-4868
ISSN (online)	1552-4876
ISSN	0148-7299 ; 1552-4868
DOI	10.1002/ajmg.c.31682
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Article ; Online: Executive functioning in adolescents and adults with Silver-Russell syndrome.

Burgevin, Mélissa / Lacroix, Agnès / Ollivier, Fanny / Bourdet, Karine / Coutant, Régis / Donadille, Bruno / Faivre, Laurence / Manouvrier-Hanu, Sylvie / Petit, Florence / Thauvin-Robinet, Christel / Toutain, Annick / Netchine, Irène / Odent, Sylvie

PloS one

2023 Volume 18, Issue 1, Page(s) e0279745

Abstract: Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome ... ...

Abstract	Silver-Russell syndrome (SRS) is a rare imprinting disorder characterized by prenatal and postnatal growth retardation. The two principal causes of SRS are loss of methylation on chromosome 11p15 (11p15 LOM) and maternal uniparental disomy of chromosome 7 (UPD(7)mat). Knowledge of the neuropsychological profile of SRS remains sparse and incomplete even if several difficulties related to attention and learning have been reported both in the literature and by patients with SRS. These difficulties could be the result of troubles in different cognitive domains, but also of executive dysfunction. Nevertheless, executive functioning has never been investigated, even though executive functions play an essential role in psychological development, and are extensively involved in daily life. The present study explored the executive functioning of individuals with SRS due to UPD(7)mat or 11p15 LOM. A battery of executive tasks assessing cognitive flexibility, inhibitory control, and working memory, together with a task assessing sustained attention, was administered to 19 individuals with SRS (13-39 years) and 19 healthy controls. The Behavior Rating Inventory of Executive Function was also completed by the participants' families. The results showed that participants with SRS had similar performance (z-scores) to our controls, in a context of normal intellectual efficiency. Group comparisons with Bayesian statistics showed a single difference between the 11p15 LOM and control groups: the completion time for part A of the Trail Making Test appeared to be longer in the 11p15 LOM group than in the control group. However, at the clinical level, several participants with SRS had clinically significant scores on various measures of EFs. Thus, the cognitive phenotype of SRS did not appear to be characterized by executive dysfunction, but individuals with SRS could be at high risk of developing executive dysfunction or attention-deficit/hyperactivity disorder. These results provide new insights into the neuropsychological profile of individuals with SRS.
MeSH term(s)	Female ; Pregnancy ; Humans ; Silver-Russell Syndrome/genetics ; Executive Function ; Bayes Theorem ; Methylation ; Uniparental Disomy ; DNA Methylation ; Genomic Imprinting ; Phenotype
Language	English
Publishing date	2023-01-20
Publishing country	United States
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2267670-3
ISSN	1932-6203 ; 1932-6203
ISSN (online)	1932-6203
ISSN	1932-6203
DOI	10.1371/journal.pone.0279745
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Article ; Online: MANAGEMENT OF ENDOCRINE DISEASE: Transition of care for young adult patients with Turner syndrome

Bernard, Valérie / Donadille, Bruno / Le Poulennec, Tiphaine / Nedelcu, Mariana / Martinerie, Laetitia / Christin-Maitre, Sophie

European journal of endocrinology

2019 Volume 180, Issue 1, Page(s) R1–R7

Abstract: Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease ... ...

Abstract	Turner syndrome (TS), affecting 1/2000 to 1/2500 live born girls, is a chromosomal aberration with a total or partial loss of one of the X chromosomes. The diagnosis can be established from the intra-uterine life to adulthood. TS is a chronic disease with particular morbidity and mortality. The loss to follow-up rate, during transition, between children and adult units, remains a crucial issue. This review focusses on the adolescent and young adult patients with TS. The different goals of TS transition are presented as well as some of the tools available in order to improve this transition. The involvement of the patient’s family, advocacy groups and therapeutic educational programs are discussed. A specificity concerning TS transition, as compared to other chronic diseases, relies on the fact that patients with TS may present a peculiar neurocognitive profile. They are in general more anxious than the general population. Therefore, psychological support should be offered to optimize transition. Data illustrating the beneficial impact of an organised transition of TS, from paediatric units to multidisciplinary adult care systems, within the same reference centre are presented. Further studies are required to evaluate the mid-to-long-term transition of paediatric patients with TS referred to adult units.
Language	English
Publishing date	2019-02-22
Publishing country	England
Document type	Journal Article
ZDB-ID	1183856-5
ISSN	1479-683X ; 0804-4643
ISSN (online)	1479-683X
ISSN	0804-4643
DOI	10.1530/EJE-18-0238
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Article ; Online: Proceedings of the annual meeting of the European Consortium of Lipodystrophies (ECLip), Pisa, Italy, 28-29 September 2023.

Ceccarini, Giovanni / Akinci, Baris / Araujo-Vilar, David / Beghini, Marianna / Brown, Rebecca J / Carrion Tudela, Juan / Corradin, Valeria / Donadille, Bruno / Jerez Ruiz, Jose / Jeru, Isabelle / Lattanzi, Giovanna / Maffei, Margherita / McIlroy, George D / Nobécourt, Estelle / Perez de Tudela, Naca / Rochford, Justin J / Sanders, Rebecca / von Schnurbein, Julia / Tews, Daniel /

Vantyghem, Marie-Christine / Vatier, Camille / Vigouroux, Corinne / Santini, Ferruccio

Annales d'endocrinologie

2024

Abstract: Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. ... ...

Abstract	Lipodystrophy syndromes are rare diseases primarily affecting the development or maintenance of the adipose tissue but are also distressing indirectly multiple organs and tissues, often leading to reduced life expectancy and quality of life. Lipodystrophy syndromes are multifaceted disorders caused by genetic mutations or autoimmunity in the vast majority of cases. While many subtypes are now recognized and classified, the disease remains remarkably underdiagnosed. The European Consortium of Lipodystrophies (ECLip) was founded in 2014 as a non-profit network of European centers of excellence working in the field of lipodystrophies aiming at promoting international collaborations to increase basic scientific understanding and clinical management of these syndromes. The network has developed a European Patient Registry as a collaborative research platform for consortium members. ECLip and ECLip registry activities involve patient advocacy groups to increase public awareness and to seek advice on research activities relevant from the patients perspective. The annual ECLip congress provides updates on the research results of various network groups members.
Language	English
Publishing date	2024-03-05
Publishing country	France
Document type	Clinical Conference
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2024.03.002
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Article ; Online: Position statement on the diagnosis and management of congenital pituitary deficiency in adults: The French National Diagnosis and Treatment Protocol (NDTP).

Castets, Sarah / Albarel, Frédérique / Bachelot, Anne / Brun, Gilles / Bouligand, Jérôme / Briet, Claire / Bui Quoc, Emmanuelle / Cazabat, Laure / Chabbert-Buffet, Nathalie / Christin-Maitre, Sophie / Courtillot, Carine / Cuny, Thomas / De Filippo, Gianpaolo / Donadille, Bruno / Illouz, Frédéric / Pellegrini, Isabelle / Reznik, Yves / Saveanu, Alexandru / Teissier, Natacha /

Touraine, Philippe / Vantyghem, Marie-Christine / Vergier, Julia / Léger, Julianne / Brue, Thierry / Reynaud, Rachel

Annales d'endocrinologie

2024

Abstract: Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency ( ...

Abstract	Pituitary deficiency, or hypopituitarism, is a rare chronic disease. It is defined by insufficient synthesis of one or more pituitary hormones (growth hormone, TSH, ACTH, LH-FSH, prolactin), whether or not associated with arginine vasopressin deficiency (formerly known as diabetes insipidus). In adult patients, it is usually acquired (notably during childhood), but can also be congenital, due to abnormal pituitary development. The present study focuses on congenital pituitary deficiency in adults, from diagnosis to follow-up, including special situations such as pregnancy or the elderly. The clinical presentation is highly variable, ranging from isolated deficit to multiple deficits, which may be part of a syndromic form or not. Diagnosis is based on a combination of clinical, biological (assessment of all hormonal axes), radiological (brain and hypothalamic-pituitary MRI) and genetic factors. Treatment consists in hormonal replacement therapy, adapted according to the period of life and the deficits, which may be progressive. Comorbidities, risk of complications and acute decompensation, and the impact on fertility and quality of life all require adaptative multidisciplinary care and long-term monitoring.
Language	English
Publishing date	2024-03-05
Publishing country	France
Document type	Journal Article
ZDB-ID	299-9
ISSN	2213-3941 ; 0003-4266
ISSN (online)	2213-3941
ISSN	0003-4266
DOI	10.1016/j.ando.2024.03.001
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Article ; Online: Gangliocytoma: outcome of a rare silent pituitary tumour.

Donadille, Bruno / Villa, Chiara / Gaillard, Stephan / Christin-Maitre, Sophie

BMJ case reports

2017 Volume 2017

Abstract: The most common finding in front of a pituitary incidentaloma is a silent pituitary adenoma. We describe a 59 years old woman with a pituitary gangliocytoma and her follow-up after 1 year. Hormonal exploration only evidenced partial corticotropic ... ...

Abstract	The most common finding in front of a pituitary incidentaloma is a silent pituitary adenoma. We describe a 59 years old woman with a pituitary gangliocytoma and her follow-up after 1 year. Hormonal exploration only evidenced partial corticotropic insufficiency. A trans-sphenoidal surgery was performed due to the tumour's suprasellar expansion. Gangliocytoma is a benign tumour of unknown prevalence, belonging to central nervous system tumour with neuronal differentiation, and 129 cases have been reported in the literature. growth hormone (GH), adrenocorticotropic hormone (ACTH) or prolactin secretions have been reported, as these ganglion cell-like mature neurons are usually mixed with secreting pituitary endocrine cells. We report a case with a pure gangliocytoma devoid of symptomatic endocrine secretion, not surrounded by pituitary endocrine tumour cells. Immunochemistry of the tumour was positive for hypothalamic growth hormone releasing hormone (GHRH) and pituitary hormones, such as GH and ACTH. Hence, this immunoexpression was not associated with peripheral hormonal secretions, suggesting biologically inactive hypothalamopituitary hormones.
MeSH term(s)	Female ; Ganglioneuroma/diagnostic imaging ; Ganglioneuroma/pathology ; Ganglioneuroma/surgery ; Humans ; Incidental Findings ; Magnetic Resonance Imaging ; Middle Aged ; Pituitary Neoplasms/diagnostic imaging ; Pituitary Neoplasms/pathology ; Pituitary Neoplasms/surgery
Language	English
Publishing date	2017-02-23
Publishing country	England
Document type	Case Reports ; Journal Article
ISSN	1757-790X
ISSN (online)	1757-790X
DOI	10.1136/bcr-2016-218859
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Article: Molecular and Cellular Bases of Lipodystrophy Syndromes.

Zammouri, Jamila / Vatier, Camille / Capel, Emilie / Auclair, Martine / Storey-London, Caroline / Bismuth, Elise / Mosbah, Héléna / Donadille, Bruno / Janmaat, Sonja / Fève, Bruno / Jéru, Isabelle / Vigouroux, Corinne

Frontiers in endocrinology

2022 Volume 12, Page(s) 803189

Abstract: Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin ... ...

Abstract	Lipodystrophy syndromes are rare diseases originating from a generalized or partial loss of adipose tissue. Adipose tissue dysfunction results from heterogeneous genetic or acquired causes, but leads to similar metabolic complications with insulin resistance, diabetes, hypertriglyceridemia, nonalcoholic fatty liver disease, dysfunctions of the gonadotropic axis and endocrine defects of adipose tissue with leptin and adiponectin deficiency. Diagnosis, based on clinical and metabolic investigations, and on genetic analyses, is of major importance to adapt medical care and genetic counseling. Molecular and cellular bases of these syndromes involve, among others, altered adipocyte differentiation, structure and/or regulation of the adipocyte lipid droplet, and/or premature cellular senescence. Lipodystrophy syndromes frequently present as systemic diseases with multi-tissue involvement. After an update on the main molecular bases and clinical forms of lipodystrophy, we will focus on topics that have recently emerged in the field. We will discuss the links between lipodystrophy and premature ageing and/or immuno-inflammatory aggressions of adipose tissue, as well as the relationships between lipomatosis and lipodystrophy. Finally, the indications of substitutive therapy with metreleptin, an analog of leptin, which is approved in Europe and USA, will be discussed.
MeSH term(s)	Adipocytes/physiology ; Adipose Tissue/metabolism ; Aging, Premature ; Humans ; Inflammation/complications ; Insulin Resistance ; Leptin/analogs & derivatives ; Leptin/therapeutic use ; Lipodystrophy/drug therapy ; Lipodystrophy/etiology ; Lipodystrophy/metabolism ; Lipodystrophy/pathology ; Lipomatosis/physiopathology ; Syndrome
Chemical Substances	Leptin ; metreleptin (TL60C27RLH)
Language	English
Publishing date	2022-01-03
Publishing country	Switzerland
Document type	Journal Article ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	2592084-4
ISSN	1664-2392
ISSN	1664-2392
DOI	10.3389/fendo.2021.803189
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