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    <title>ORBi Collection: Endocrinology, metabolism &amp; nutrition</title>
    <link>http://hdl.handle.net/2268/98</link>
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        <rdf:li resource="http://hdl.handle.net/2268/148508" />
        <rdf:li resource="http://hdl.handle.net/2268/148507" />
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        <rdf:li resource="http://hdl.handle.net/2268/148504" />
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        <rdf:li resource="http://hdl.handle.net/2268/148007" />
        <rdf:li resource="http://hdl.handle.net/2268/147727" />
        <rdf:li resource="http://hdl.handle.net/2268/147685" />
        <rdf:li resource="http://hdl.handle.net/2268/147301" />
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        <rdf:li resource="http://hdl.handle.net/2268/145992" />
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  <item rdf:about="http://hdl.handle.net/2268/148508">
    <title>Characteristics of patients with pituitary gigantism : results of an international study</title>
    <link>http://hdl.handle.net/2268/148508</link>
    <description>Title: Characteristics of patients with pituitary gigantism : results of an international study
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Rostomyan, L; Daly, Adrian; Tichomirowa, M; Naves, L; Shah, N; Chanson, P; Zacharieva, S; Stratakis, C; Neggers, S; Holdaway, I; Stalla, G; Pronin, V; Maiter, D; Bertherat, J; Colao, A; Ilovaiskaya, I; Ferone, D; Zacharin, M; Salvatori, R; Beckers, Albert</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148507">
    <title>Lessons from the Liege Acromegaly Survey (LAS)</title>
    <link>http://hdl.handle.net/2268/148507</link>
    <description>Title: Lessons from the Liege Acromegaly Survey (LAS)
&lt;br/&gt;
&lt;br/&gt;Author, co-author: PETROSSIANS, Patrick; Zacharieva, Sabina; Chanson, Philippe; Neggers, S; Brue, Thierry; Colao, Annamaria; Hulting, AL; Delemer, B; Hana, V; Stalla, G; Minuto, F; Jaffrain-Rea, ML; Carvalho, D; Fajardo Montanana, C; Beckers, Albert</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148505">
    <title>Receptor expression in craniopharyngiomas causing tumor growth in pregnancy : case report and review of the literature</title>
    <link>http://hdl.handle.net/2268/148505</link>
    <description>Title: Receptor expression in craniopharyngiomas causing tumor growth in pregnancy : case report and review of the literature
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Tome, Monica; VROONEN, Laurent; THIRY, Albert; Daly, Adrian; Beckers, Albert</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148504">
    <title>A national survey on the prevalence and treatment outcome of active Cushing's disease in Belgium</title>
    <link>http://hdl.handle.net/2268/148504</link>
    <description>Title: A national survey on the prevalence and treatment outcome of active Cushing's disease in Belgium
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Bex, M; Nauwelaerts, H; T'Sjoen, Guy; Velkeniers, Brigitte; Corvilain, Bernard; Abrams, Pascale; Beckers, Albert; De Block, Christophe; Maiter, Dominique</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148496">
    <title>2013 European Thyroid Association guidelines for the diagnosis and treatment of TSH-secreting pituitary tumors</title>
    <link>http://hdl.handle.net/2268/148496</link>
    <description>Title: 2013 European Thyroid Association guidelines for the diagnosis and treatment of TSH-secreting pituitary tumors
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Beck-Peccoz, P; Lania, A; Beckers, Albert; Chatterjee, K; Wemeau, JL</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148010">
    <title>A propos d'un séminome médiastinal.</title>
    <link>http://hdl.handle.net/2268/148010</link>
    <description>Title: A propos d'un séminome médiastinal.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Gilis, F.; Massart, B.; LIFRANGE, Eric; Van Lancker, M. A.; Jardon-Jeghers, C.; Tjean, M.; Bury, J.; Boniver, Jacques</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148009">
    <title>Myélinolyse centrale du pont, son cadre nosographique parmi les lésions neuropathologiques dues à l'alcoolisme</title>
    <link>http://hdl.handle.net/2268/148009</link>
    <description>Title: Myélinolyse centrale du pont, son cadre nosographique parmi les lésions neuropathologiques dues à l'alcoolisme
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Reznik, Michel; LIFRANGE, Eric; MOUCHETTE, R.; EVRARD, P.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/148007">
    <title>Validation de la technique de biopsie du ganglion sentinelle dans le cancer du sein</title>
    <link>http://hdl.handle.net/2268/148007</link>
    <description>Title: Validation de la technique de biopsie du ganglion sentinelle dans le cancer du sein
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Bleret, Valerie; Lifrange, Eric; Ghuysen, Vincent; Milet, J.; Fridman, Viviana; Colin, Claude
&lt;br/&gt;
&lt;br/&gt;Abstract: PURPOSE: Assessment of our experience and validation of the sentinel lymph node biopsy technique in breast cancer stage T0-T2N0M0 surgery. METHODS: Identification and biopsy of the sentinel lymph node by the radio colloid method in a consecutive series of 205 patients undergoing surgery for breast cancer stage T0-T2N0M0 between October 1998 and January 2007, initially in association with a complete axillary lymph node dissection (learning curve), later in an elective way. Prospective recording of the data and analysis with an average follow-up of 50 months (3 to 102 months). RESULTS: Biopsy rate of the sentinel lymph node of 90%, false negative rate of the method 2.5%, axillary recurrence rate 0%. CONCLUSION: We confirm in this series that the sentinel lymph node biopsy technique is a reliable approach in our experience for the evaluation of the axillary lymph node status in breast cancer stage T0-T2N0M0.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/147727">
    <title>Differences in inflammasome activation between metabolically healthy and unhealthy obese individuals</title>
    <link>http://hdl.handle.net/2268/147727</link>
    <description>Title: Differences in inflammasome activation between metabolically healthy and unhealthy obese individuals
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Esser, Nathalie; L'Homme, Laurent; SCHEEN, André; MOUTSCHEN, Michel; Piette, Jacques; PAQUOT, Nicolas; Legrand, Sylvie</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/147685">
    <title>The relevance of food composition data for nutrition surveys in rural Tibet: pilot study in the context of Kashin-Beck Disease</title>
    <link>http://hdl.handle.net/2268/147685</link>
    <description>Title: The relevance of food composition data for nutrition surveys in rural Tibet: pilot study in the context of Kashin-Beck Disease
&lt;br/&gt;
&lt;br/&gt;Author, co-author: DERMIENCE, Michael; Mathieu, Françoise; Barthelemy, Jean-Paul; Maesen, Philippe; Romnee, Jean-Michel; De Maertelaer, Viviane; Denchen, Yangzom; Tsewang, Pema; Lognay, Georges
&lt;br/&gt;
&lt;br/&gt;Abstract: Kashin-Beck disease (KBD) is an endemic and chronic osteochondropathy. This disease principally occurs in the Tibet Autonomous Region and in several provinces of the People’s Republic of China. The etiology of the disease remains obscure although environmental factors are assumed to be involved. Diet, in particular, differentiates the rural community, affected by KBD, from the other communities (nomads and city-dwellers), who remain unaffected. In anticipation of a nutrition survey, this study aimed to measure the mineral content (Ca, P, Mg, Fe, Zn, Mn, Cu, Ni, Se, Al, Sr, Mo, Cd, As, Pb, Hg, Cr, and Co) of eight Tibetan staple foods and to compare the results against two food composition tables (FCTs). Foods were sampled in twenty households selected from both an endemic and a non-endemic area of rural Tibet. Ten minerals involved in bone metabolism were measured using atomic and molecular spectrometric methods. Results revealed that a very limited number of food/constituent pairs showed a variation in mineral composition during a single year of testing for a given region. In addition, results showed significant differences in mineral content between the endemic and the non-endemic area, especially for wheat flour. Following our analysis of the mineral content of the Tibetan food samples, results were statistically compared with similar foods listed in two food composition tables: the USDA National Nutrient Database (USDA Food Search for Windows, Version 1.0, database version SR23), and the China Food Composition Table (book 1, 2nd edition). More than 50 to 60% of p-values &lt; 0.05 were highlighted, suggesting the inappropriateness of using FCTs as a reference for nutrition surveys in rural Tibet, and emphasizing the need for analysis of traditional foods. Differences were found to be more or less marked depending on the element considered, and calcium content seemed to show the greatest difference. Although it is obviously too early for definite conclusions to be reached (insufficient number of samples by food and insufficient number of foods analyzed), it seems that the present pilot-study indicates significant discrepancies between measured and tabulated values of the mineral content of certain foods. A more complete survey would therefore seem mandatory.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/147301">
    <title>Etude rétrospective de 438 salariés diabétiques dans un service interentreprises luxembourgeois de santé au travail - Enquête sur la relation entre la maladie diabétique et la survenue d'une décision d'inaptitude, d'un arrêt maladie prolongé ou d'un accident de travail.</title>
    <link>http://hdl.handle.net/2268/147301</link>
    <description>Title: Etude rétrospective de 438 salariés diabétiques dans un service interentreprises luxembourgeois de santé au travail - Enquête sur la relation entre la maladie diabétique et la survenue d'une décision d'inaptitude, d'un arrêt maladie prolongé ou d'un accident de travail.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Favrot, Philippe; Mairiaux, Philippe; Blaise, Pierre
&lt;br/&gt;
&lt;br/&gt;Abstract: Une étude rétrospective a été menée sur 438 travailleurs diabétiques parmi les 28244 salariés&#xD;
examinés entre octobre 2004 et septembre 2006 dans un service de santé au travail&#xD;
luxembourgeois. L’objectif était d’étudier l’intégration des patients diabétiques dans le&#xD;
marché du travail, par l’analyse des motifs de consultations et les conclusions médicales que&#xD;
les médecins du travail de ce service ont prononcées. L’étude des conclusions d’inaptitudes&#xD;
prononcées par les médecins de notre service semble révéler un risque 3 fois plus important&#xD;
pour les salariés diabétiques de faire l’objet d’une décision d’inaptitude médicale, temporaire&#xD;
ou définitive, à l’occupation d’un poste de travail (OR=3,14 ; IC95% [2,30 - 4,28]). Pour autant,&#xD;
dans 84% des cas, cette décision d’inaptitude est prononcée pour un autre motif que la seule&#xD;
pathologie diabétique (complications de la maladie diabétique ou comorbidités). Cette étude&#xD;
aura également révélé que les salariés diabétiques semblent avoir un risque 2 fois supérieur&#xD;
aux non-diabétiques d’être examinés à l’occasion d’une reprise du travail après un arrêt&#xD;
maladie prolongé (OR=1,99 ; IC95% [1,44 - 2,77]), mais n’ont pas de risque significativement&#xD;
accru d’être vus en consultation à l’occasion d’une reprise après un accident du travail&#xD;
(OR=1,92 non significatif car IC95% [0,94 - 2,26]).; A retrospective study was carried out from October 2004 until September 2006 in&#xD;
a Luxembourger occupational health service. The purposes of the medical checks performed&#xD;
during this period of time were analysed as well as the related decision of occupational health&#xD;
practitioners. A total of 28244 persons attended the medical checks thereof 438 had diabetes&#xD;
(diabetes mellitus type 1 and type 2). The risk of being declared unfit for a job was compared&#xD;
in workers populations with and without diabetes. The probabilities to consult an occupational&#xD;
practitioner after a long-time sick leave (more than 6 weeks long) or after an accident at work&#xD;
were also compared in both workers populations. The Woolf’s method was used to adjust all&#xD;
odds ratios for age and sex. The proportions of persons with diabetes appear similar to those&#xD;
found by age in the general population, however the risk of being declared unfit for a job was&#xD;
significantly higher for persons with diabetic than for non-diabetic persons (OR=3.14 ; 95%&#xD;
CI [2.30 - 4.28]). In 84% cases, diabetes wasn’t the only cause of unfitness (comorbidities,&#xD;
vascular complications…). Diabetes represented a higher risk of a long time sick leave&#xD;
(OR=1.99 ; 95% CI [1.44 - 2.77]), but it didn’t lead to an significant risk of accident at work&#xD;
(OR=1.92 ; 95% CI [0.94 - 2.26]). Our results suggest that several employees with diabetes&#xD;
seemed to be restricted from certain jobs or couldn’t maintain their jobs. Most often, the&#xD;
occupational practitioners decisions were not solely justified by the diabetes but by the&#xD;
coexistence of complications or comorbidities. This last argument, associated with an&#xD;
increased risk to be on sick leave for a long period, stresses the importance of the preventive&#xD;
actions in diabetes. However, the prejudice of a higher risk of occupational accidents due to&#xD;
diabetics seems unfounded.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/147010">
    <title>Rapport scientifique et technique du projet HYDRASANTE (annee 3)</title>
    <link>http://hdl.handle.net/2268/147010</link>
    <description>Title: Rapport scientifique et technique du projet HYDRASANTE (annee 3)
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Boudry, Christelle; François, Emmanuelle; Nollevaux, Géraldine; Neyrinck, Audrey; Goffin, Dorothée; Portetelle, Daniel; Blecker, Christophe; Schneider, Yves-Jacques; Delzenne, Nathalie; Thewis, André</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/146523">
    <title>Adenomas Pituitarios Familiares Aislados (FIPA)</title>
    <link>http://hdl.handle.net/2268/146523</link>
    <description>Title: Adenomas Pituitarios Familiares Aislados (FIPA)
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Beckers, Albert</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/146522">
    <title>Historia de la Acromegalia y del Gigantismo</title>
    <link>http://hdl.handle.net/2268/146522</link>
    <description>Title: Historia de la Acromegalia y del Gigantismo
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Beckers, Albert</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145994">
    <title>Metformin revisited: A critical review of the benefit-risk balance in at-risk patients with type 2 diabetes.</title>
    <link>http://hdl.handle.net/2268/145994</link>
    <description>Title: Metformin revisited: A critical review of the benefit-risk balance in at-risk patients with type 2 diabetes.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: SCHEEN, André; Paquot, Nicolas
&lt;br/&gt;
&lt;br/&gt;Abstract: Metformin is unanimously considered a first-line glucose-lowering agent. Theoretically, however, it cannot be prescribed in a large proportion of patients with type 2 diabetes because of numerous contraindications that could lead to an increased risk of lactic acidosis. Various observational data from real-life have shown that many diabetic patients considered to be at risk still receive metformin and often without appropriate dose adjustment, yet apparently with no harm done and particularly no increased risk of lactic acidosis. More interestingly, recent data have suggested that type 2 diabetes patients considered at risk because of the presence of traditional contraindications may still derive benefit from metformin therapy with reductions in morbidity and mortality compared with other glucose-lowering agents, especially sulphonylureas. The present review analyzes the benefit-risk balance of metformin therapy in special populations, namely, patients with stable coronary artery disease, acute coronary syndrome or myocardial infarction, congestive heart failure, renal impairment or chronic kidney disease, hepatic dysfunction and chronic respiratory insufficiency, all conditions that could in theory increase the risk of lactic acidosis. Special attention is also paid to elderly patients with type 2 diabetes, a population that is growing rapidly, as older patients can accumulate several comorbidities classically considered contraindications to the use of metformin. A review of the recent scientific literature suggests that reassessment of the contraindications of metformin is now urgently needed to prevent physicians from prescribing the most popular glucose-lowering therapy in everyday clinical practice outside of the official recommendations.
&lt;br/&gt;
&lt;br/&gt;Commentary: Copyright (c) 2013. Published by Elsevier Masson SAS.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145993">
    <title>Pharmacokinetic considerations for the treatment of diabetes in patients with chronic kidney disease.</title>
    <link>http://hdl.handle.net/2268/145993</link>
    <description>Title: Pharmacokinetic considerations for the treatment of diabetes in patients with chronic kidney disease.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: SCHEEN, André
&lt;br/&gt;
&lt;br/&gt;Abstract: Introduction: People with chronic kidney disease (CKD) of stages 3 - 5 (creatinine clearance &lt; 60 ml/min) represent approximately 25% of patients with type 2 diabetes mellitus (T2DM), but the problem is underrecognized or neglected in clinical practice. However, most oral antidiabetic agents have limitations in case of renal impairment (RI), either because they require a dose adjustment or because they are contraindicated for safety reasons. Areas covered: The author performed an extensive literature search to analyze the influence of RI on the pharmacokinetics (PK) of glucose-lowering agents and the potential consequences for clinical practice. Expert opinion: As a result of PK interferences and for safety reasons, the daily dose should be reduced according to glomerular filtration rate (GFR) or even the drug is contraindicated in presence of severe CKD. This is the case for metformin (risk of lactic acidosis) and for many sulfonylureas (risk of hypoglycemia). At present, however, the exact GFR cutoff for metformin use is controversial. New antidiabetic agents are better tolerated in case of CKD, although clinical experience remains quite limited for most of them. The dose of DPP-4 inhibitors should be reduced (except for linagliptin), whereas both the efficacy and safety of SGLT2 inhibitors are questionable in presence of CKD.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145992">
    <title>Role limite des medicaments hypoglycemiants oraux dans le diabete de type 1.</title>
    <link>http://hdl.handle.net/2268/145992</link>
    <description>Title: Role limite des medicaments hypoglycemiants oraux dans le diabete de type 1.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: SCHEEN, André
&lt;br/&gt;
&lt;br/&gt;Abstract: Management of type 1 diabetes essentially relies upon intensive insulin therapy adjusted according to careful home blood glucose monitoring. The potential role of oral antidiabetic agents is controversial and what so ever is limited in type 1 diabetes. Nevertheless, metformin may still be useful in the presence of obesity and/or insulin resistance while acarbose could reduce the amplitude of glycaemic fluetuations, namely postprandial hyperglycaemia and late postmeal glycaemic nadir. Both drugs may also minimize weight gain that results from intensive insulin therapy. Finally, inhibitors of dipeptidyl peptidase-4 (glitpins), by inhibiting glucagon secretion, and inhibitors of renal SGLT2 cotransporters, thus promoting glucosuria independently of insulin, might also be beneficial in type 1 diabetes, although specific studies are still ongoing to verify this hypothesis.; Le traitement du diabète de type 1 repose sur &#xD;
une insulinothérapie intensifiée ajustée en fonction d’une &#xD;
autosurveillance glycémique minutieuse. Les antidiabétiques &#xD;
oraux occupent une place controversée, de toute façon assez &#xD;
limitée chez le patient diabétique de type 1. Néanmoins, la &#xD;
metformine peut parfois être utile en cas d’obésité et/ou d’insulinorésistance tandis que l’acarbose peut limiter l’ampleur &#xD;
des excursions glycémiques, à savoir l’hyperglycémie postprandiale et le risque hypoglycémique tardif. Ces deux médicaments pourraient également limiter quelque peu la prise &#xD;
pondérale sous insulinothérapie intensifiée. Enfin, les inhibiteurs de la dipeptidyl peptidase-4 (glitpines), en inhibant la &#xD;
sécrétion de glucagon, et les inhibiteurs des cotransporteurs &#xD;
SGLT2 rénaux, en favorisant une glucosurie indépendamment &#xD;
de l’insuline, pourraient aussi s’avérer bénéfiques dans le diabète de type 1, mais les études sont toujours en cours pour &#xD;
étayer cette hypothèse</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145988">
    <title>Efficacy and safety of Jentadueto(R) (linagliptin plus metformin).</title>
    <link>http://hdl.handle.net/2268/145988</link>
    <description>Title: Efficacy and safety of Jentadueto(R) (linagliptin plus metformin).
&lt;br/&gt;
&lt;br/&gt;Author, co-author: SCHEEN, André
&lt;br/&gt;
&lt;br/&gt;Abstract: INTRODUCTION: Metformin is the first-choice drug in the management of type 2 diabetes. However, most patients require a combined therapy to reach and/or maintain targets of glucose control. Dipeptidyl peptidase-4 (DPP-4) inhibitors offer new options for combined therapy with metformin. Linagliptin shares a similar pharmacodynamic (PD) profile with other gliptins, but has a unique pharmacokinetic (PK) profile characterized by negligible renal excretion. AREAS COVERED: An extensive literature search was performed to analyze the potential PK/PD interactions between linagliptin and metformin. They are not prone to PK drug-drug interactions. The two compounds may be administered together, either separately or using a fixed-dose combination (FDC) as shown by bioequivalence studies. The addition of linagliptin in patients not well controlled with metformin alone has proven its efficacy in improving glucose levels with a good safety profile. Initial co-administration of linagliptin plus metformin improves glucose control more potently than either compound separately, without hypoglycemia, weight gain or increased metformin-related gastrointestinal side effects. EXPERT OPINION: The linagliptin plus metformin combination may offer some advantages over the classical sulfonylurea-metformin combination. Even if linagliptin is safe in patients with renal impairment, the use of metformin (and thus of the linagliptin plus metformin FDC) is still controversial in this population.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145986">
    <title>Linagliptin plus metformin: a pharmacokinetic and pharmacodynamic evaluation.</title>
    <link>http://hdl.handle.net/2268/145986</link>
    <description>Title: Linagliptin plus metformin: a pharmacokinetic and pharmacodynamic evaluation.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: SCHEEN, André
&lt;br/&gt;
&lt;br/&gt;Abstract: INTRODUCTION: The first-choice drug therapy in the management of type 2 diabetes is metformin . However, most patients require a combined therapy to reach and/or maintain targets of glucose control. Dipeptidyl peptidase-4 (DPP-4) inhibitors, commonly referred to as gliptins, offer new options for combined therapy with metformin. Linagliptin is the most recently launched gliptin, with a unique pharmacokinetic (PK) profile characterized by negligible renal excretion and is now also available as a fixed-dose combination (FDC) with metformin. AREAS COVERED: An extensive literature search was performed to analyze the potential PK and pharmacodynamic interactions between linagliptin and metformin. Linagliptin and metformin may be administered together, either separately or as FDC supported by bioequivalence studies. Linagliptin and metformin are not prone to PK drug-drug interactions. Their coadministration improves blood glucose control more potently than either compound separately, without hypoglycemia and without increasing metformin-related gastrointestinal side effects. EXPERT OPINION: The combination linaglitpin plus metformin, if not contraindicated (renal failure), may be used as first-line or second-line therapy in the management of type 2 diabetes. That being said, the durability of the glucose-lowering effect of this combination needs to be further explored in long-term controlled trials.</description>
  </item>
  <item rdf:about="http://hdl.handle.net/2268/145810">
    <title>Genetic analysis in young patients with sporadic pituitary macroadenomas:Beside AIP don't forget MEN1 genetic analysis.</title>
    <link>http://hdl.handle.net/2268/145810</link>
    <description>Title: Genetic analysis in young patients with sporadic pituitary macroadenomas:Beside AIP don't forget MEN1 genetic analysis.
&lt;br/&gt;
&lt;br/&gt;Author, co-author: Cuny, Thomas; Pertuit, Morgane; Sahnoun-Fathallah, Mouna; Daly, Adrian; Occhi, Gianluca; Odou, Marie-Francoise; Tabarin, Antoine; Nunes, Marie-Laure; Delemer, Brigitte; Rohmer, Vincent; Desailloud, Rachel; Kerlan, Veronique; Chabre, Olivier; Sadoul, Jean Louis; Cogne, Muriel; Caron, Philippe; Cortet, Christine; Lienhardt-Roussie, Anne; Raingeard, Isabelle; Guedj, Anne-Marie; Brue, Thierry; BECKERS, Albert; Weryha, Georges; Enjalbert, Alain; Barlier, Anne
&lt;br/&gt;
&lt;br/&gt;Abstract: CONTEXT: germline mutations in the AIP gene have been identified in young patients (age &lt;/= 30 years old) with sporadic pituitary macroadenomas. Otherwise, there are few data concerning the prevalence of MEN1 mutations in such population. OBJECTIVE: We assessed the prevalence of both AIP and MEN1 genetic abnormalities (mutations and large gene deletions) in young patients (age &lt;/= 30 years old) diagnosed with sporadic and isolated macroadenoma, without hypercalcemia and/or MEN1-associated lesions. DESIGN: The entire coding sequences of AIP and MEN1 were screened for mutations. In cases of negative sequencing screening, multiplex ligation-dependent probe amplification was performed for the detection of large genetic deletions. PATIENTS AND SETTINGS: 174 patients from Endocrinology Departments of 15 French University Hospital Centers were eligible for this study. RESULTS: 21/174(12%) patients had AIP (n=15, 8.6%) or MEN1 (n=6, 3.4%) mutations. In pediatric patients (age &lt;/= 18 years old), AIP/MEN1 mutation frequency reached nearly 22% (n=10/46). AIPmut and MEN1mut were respectively identified in 8/79 (10.1%) and 1/79 (1.2%) somatotropinoma patients; they each accounted for 4/74 (5.4%) prolactinoma patients with mutations. Half of patients (n=3/6) with gigantism displayed mutations in AIP. Interestingly, 4/12 (33%) patients with non-secreting adenomas bore either AIP or MEN1 mutations, whereas none of the 8 corticotroph-adenomas and a single thyrotropinoma case had mutations. No large gene deletions were observed in sequencing-negative patients. CONCLUSION: mutations in MEN1 can be of significance in young patients with sporadic isolated pituitary macroadenomas, particularly prolactinomas, and together with AIP, we suggest genetic analysis of MEN1 in such population.</description>
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