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  1. Article ; Online: Correspondence regarding "T-box protein 4 mutation causing pulmonary arterial hypertension and lung disease": a single-centre case series.

    Jansen, Samara M A / van den Heuvel, Lieke / Meijboom, Lilian J / Alsters, Suzanne I M / Vonk Noordegraaf, Anton / Houweling, Arjan / Bogaard, Harm Jan

    The European respiratory journal

    2020  Volume 55, Issue 5

    MeSH term(s) Familial Primary Pulmonary Hypertension ; Humans ; Mutation ; Pulmonary Arterial Hypertension
    Language English
    Publishing date 2020-05-14
    Publishing country England
    Document type Letter ; Comment
    ZDB-ID 639359-7
    ISSN 1399-3003 ; 0903-1936
    ISSN (online) 1399-3003
    ISSN 0903-1936
    DOI 10.1183/13993003.02272-2019
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2322: Show issues Location:
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  2. Article ; Online: Long-Term Weight Outcome After Bariatric Surgery in Patients with Melanocortin-4 Receptor Gene Variants: a Case-Control Study of 105 Patients.

    Cooiman, Mellody I / Alsters, Suzanne I M / Duquesnoy, Maeva / Hazebroek, Eric J / Meijers-Heijboer, Hanne J / Chahal, Harvinder / Le Beyec-Le Bihan, Johanne / Clément, Karine / Soula, Hedi / Blakemore, Alex I / Poitou, Christine / van Haelst, Mieke M

    Obesity surgery

    2022  Volume 32, Issue 3, Page(s) 837–844

    Abstract: Introduction: Pathogenic heterozygous MC4R variants are associated with hyperphagia and variable degrees of obesity. Several research groups have reported short-term weight loss outcomes after bariatric surgery in a few patients with MC4R variants, but ... ...

    Abstract Introduction: Pathogenic heterozygous MC4R variants are associated with hyperphagia and variable degrees of obesity. Several research groups have reported short-term weight loss outcomes after bariatric surgery in a few patients with MC4R variants, but lack of longer-term data prevents evidence-based clinical decision-making.
    Materials and methods: Bariatric surgery patients with heterozygous (likely) pathogenic MC4R variants, from three collaborating centers in the Netherlands, France, and the UK, were compared to matched controls (matched 2:1 for age, sex, preoperative BMI, surgical procedure, and diabetes mellitus, but without MC4R mutations). Weight loss and regain outcomes up to 6 years of follow-up were compared.
    Results: At 60 months of follow-up after RYGB, cases with MC4R variants showed weight regain with a mean of 12.8% (± 10.4 SD) total weight loss (TWL) from nadir, compared to 7.9% (± 10.5 SD) in the controls (p = 0.062). Among patients receiving SG, the cases with MC4R variants experienced inferior weight loss (22.6% TWL) during the first year of follow-up compared to the controls (29.9% TWL) (p = 0.010).
    Conclusions: This multicenter study reveals inferior mid-term weight outcomes of cases with MC4R variants after SG, compared to RYGB. Since adequate weight loss outcomes were observed after RYGB, this procedure would appear to be an appropriate surgical approach for this group. However, the pattern of weight regain seen in cases with MC4R variants after both RYGB and SG highlights the need for pro-active lifelong management to prevent relapse, as well as careful expectation management.
    MeSH term(s) Bariatric Surgery ; Case-Control Studies ; Gastric Bypass/methods ; Humans ; Obesity, Morbid/surgery ; Receptor, Melanocortin, Type 4/genetics ; Retrospective Studies ; Treatment Outcome ; Weight Gain ; Weight Loss/genetics
    Chemical Substances MC4R protein, human ; Receptor, Melanocortin, Type 4
    Language English
    Publishing date 2022-01-04
    Publishing country United States
    Document type Journal Article ; Multicenter Study
    ZDB-ID 1070827-3
    ISSN 1708-0428 ; 0960-8923
    ISSN (online) 1708-0428
    ISSN 0960-8923
    DOI 10.1007/s11695-021-05869-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Vascular Ehlers-Danlos Syndrome: A Comprehensive Natural History Study in a Dutch National Cohort of 142 Patients.

    Demirdas, Serwet / van den Bersselaar, Lisa M / Lechner, Rosan / Bos, Jessica / Alsters, Suzanne I M / Baars, Marieke J H / Baas, Annette F / Baysal, Özlem / van der Crabben, Saskia N / Dulfer, Eelco / Giesbertz, Noor A A / Helderman-van den Enden, Apollonia T J M / Hilhorst-Hofstee, Yvonne / Kempers, Marlies J E / Komdeur, Fenne L / Loeys, Bart / Majoor-Krakauer, Daniëlle / Ockeloen, Charlotte W / Overwater, Eline /
    van Tintelen, Peter J / Voorendt, Marsha / de Waard, Vivian / Maugeri, Alessandra / Brüggenwirth, Hennie T / van de Laar, Ingrid M B H / Houweling, Arjan C

    Circulation. Genomic and precision medicine

    2024  , Page(s) e003978

    Abstract: Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in : Methods: Individuals with vEDS throughout the ... ...

    Abstract Background: Vascular Ehlers-Danlos syndrome (vEDS) is a rare connective tissue disorder with a high risk for arterial, bowel, and uterine rupture, caused by heterozygous pathogenic variants in
    Methods: Individuals with vEDS throughout the Netherlands were included. The phenotype was charted by retrospective analysis of molecular and clinical data, combined with a one-time physical examination.
    Results: A total of 142 individuals (50% female) participated the study, including 46 index patients (32%). The overall median age at genetic diagnosis was 41.0 years. More than half of the index patients (54.3%) and relatives (53.1%) had a physical appearance highly suggestive of vEDS. In these individuals, major events were not more frequent (
    Conclusions: Male sex, type and location of the
    Language English
    Publishing date 2024-04-16
    Publishing country United States
    Document type Journal Article
    ISSN 2574-8300
    ISSN (online) 2574-8300
    DOI 10.1161/CIRCGEN.122.003978
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article ; Online: Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients.

    van den Heuvel, Lieke M / Jansen, Samara M A / Alsters, Suzanne I M / Post, Marco C / van der Smagt, Jasper J / Handoko-De Man, Frances S / van Tintelen, J Peter / Gille, Hans / Christiaans, Imke / Vonk Noordegraaf, Anton / Bogaard, HarmJan / Houweling, Arjan C

    Genes

    2020  Volume 11, Issue 10

    Abstract: Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic ... ...

    Abstract Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant was detected in 22 (31%) of them. After the identification of additional PAH associated genes, a next generation sequencing (NGS) panel consisting of 19 genes was developed in 2018. Additional genetic testing was offered to the 48
    MeSH term(s) Adult ; Aged ; Aged, 80 and over ; Cohort Studies ; Family ; Female ; Genetic Predisposition to Disease ; Genetic Testing ; Growth Differentiation Factor 2/genetics ; Humans ; Male ; Middle Aged ; Mutation ; Netherlands/epidemiology ; Protein-Serine-Threonine Kinases/genetics ; Pulmonary Arterial Hypertension/epidemiology ; Pulmonary Arterial Hypertension/genetics ; Pulmonary Veno-Occlusive Disease/epidemiology ; Pulmonary Veno-Occlusive Disease/genetics ; T-Box Domain Proteins/genetics ; Young Adult
    Chemical Substances GDF2 protein, human ; Growth Differentiation Factor 2 ; T-Box Domain Proteins ; TBX4 protein, human ; EIF2AK4 protein, human (EC 2.7.11.1) ; Protein-Serine-Threonine Kinases (EC 2.7.11.1)
    Language English
    Publishing date 2020-10-13
    Publishing country Switzerland
    Document type Evaluation Study ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2527218-4
    ISSN 2073-4425 ; 2073-4425
    ISSN (online) 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11101191
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: Genetic Evaluation in a Cohort of 126 Dutch Pulmonary Arterial Hypertension Patients

    van den Heuvel, Lieke M / Jansen, Samara M. A / Alsters, Suzanne I. M / Post, Marco C / van der Smagt, Jasper J / Handoko-De Man, Frances S / van Tintelen, J. Peter / Gille, Hans / Christiaans, Imke / Vonk Noordegraaf, Anton / Bogaard, HarmJan / Houweling, Arjan C

    Genes. 2020 Oct. 13, v. 11, no. 10

    2020  

    Abstract: Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic ... ...

    Abstract Pulmonary arterial hypertension (PAH) is a severe, life-threatening disease, and in some cases is caused by genetic defects. This study sought to assess the diagnostic yield of genetic testing in a Dutch cohort of 126 PAH patients. Historically, genetic testing in the Netherlands consisted of the analysis of BMPR2 and SMAD9. These genes were analyzed in 70 of the 126 patients. A (likely) pathogenic (LP/P) variant was detected in 22 (31%) of them. After the identification of additional PAH associated genes, a next generation sequencing (NGS) panel consisting of 19 genes was developed in 2018. Additional genetic testing was offered to the 48 BMPR2 and SMAD9 negative patients, out of which 28 opted for NGS analysis. In addition, this gene panel was analyzed in 56 newly identified idiopathic (IPAH) or pulmonary veno occlusive disease (PVOD) patients. In these 84 patients, NGS panel testing revealed LP/P variants in BMPR2 (N = 4), GDF2 (N = 2), EIF2AK4 (N = 1), and TBX4 (N = 3). Furthermore, 134 relatives of 32 probands with a LP/P variant were tested, yielding 41 carriers. NGS panel screening offered to IPAH/PVOD patients led to the identification of LP/P variants in GDF2, EIF2AK4, and TBX4 in six additional patients. The identification of LP/P variants in patients allows for screening of at-risk relatives, enabling the early identification of PAH.
    Keywords genes ; hypertension ; pulmonary artery ; Netherlands
    Language English
    Dates of publication 2020-1013
    Publishing place Multidisciplinary Digital Publishing Institute
    Document type Article
    ZDB-ID 2527218-4
    ISSN 2073-4425
    ISSN 2073-4425
    DOI 10.3390/genes11101191
    Database NAL-Catalogue (AGRICOLA)

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  6. Article ; Online: Truncating Homozygous Mutation of Carboxypeptidase E (CPE) in a Morbidly Obese Female with Type 2 Diabetes Mellitus, Intellectual Disability and Hypogonadotrophic Hypogonadism.

    Alsters, Suzanne I M / Goldstone, Anthony P / Buxton, Jessica L / Zekavati, Anna / Sosinsky, Alona / Yiorkas, Andrianos M / Holder, Susan / Klaber, Robert E / Bridges, Nicola / van Haelst, Mieke M / le Roux, Carel W / Walley, Andrew J / Walters, Robin G / Mueller, Michael / Blakemore, Alexandra I F

    PloS one

    2015  Volume 10, Issue 6, Page(s) e0131417

    Abstract: Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a ... ...

    Abstract Carboxypeptidase E is a peptide processing enzyme, involved in cleaving numerous peptide precursors, including neuropeptides and hormones involved in appetite control and glucose metabolism. Exome sequencing of a morbidly obese female from a consanguineous family revealed homozygosity for a truncating mutation of the CPE gene (c.76_98del; p.E26RfsX68). Analysis detected no CPE expression in whole blood-derived RNA from the proband, consistent with nonsense-mediated decay. The morbid obesity, intellectual disability, abnormal glucose homeostasis and hypogonadotrophic hypogonadism seen in this individual recapitulates phenotypes in the previously described fat/fat and Cpe knockout mouse models, evidencing the importance of this peptide/hormone-processing enzyme in regulating body weight, metabolism, and brain and reproductive function in humans.
    MeSH term(s) Carboxypeptidase H/genetics ; Carboxypeptidase H/metabolism ; DNA Mutational Analysis ; Diabetes Mellitus, Type 2/complications ; Diabetes Mellitus, Type 2/enzymology ; Diabetes Mellitus, Type 2/genetics ; Exome/genetics ; Female ; Gene Expression Regulation, Enzymologic ; Homozygote ; Humans ; Intellectual Disability/complications ; Intellectual Disability/genetics ; Klinefelter Syndrome/complications ; Klinefelter Syndrome/enzymology ; Klinefelter Syndrome/genetics ; Male ; Mutation/genetics ; Obesity, Morbid/complications ; Obesity, Morbid/enzymology ; Obesity, Morbid/genetics ; Pedigree ; RNA, Messenger/genetics ; RNA, Messenger/metabolism ; Young Adult
    Chemical Substances RNA, Messenger ; Carboxypeptidase H (EC 3.4.17.10)
    Language English
    Publishing date 2015-06-29
    Publishing country United States
    Document type Case Reports ; 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.0131417
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  7. Article ; Online: Effect of vertical sleeve gastrectomy in melanocortin receptor 4-deficient rats.

    Mul, Joram D / Begg, Denovan P / Alsters, Suzanne I M / van Haaften, Gijs / Duran, Karen J / D'Alessio, David A / le Roux, Carel W / Woods, Stephen C / Sandoval, Darleen A / Blakemore, Alexandra I F / Cuppen, Edwin / van Haelst, Mieke M / Seeley, Randy J

    American journal of physiology. Endocrinology and metabolism

    2012  Volume 303, Issue 1, Page(s) E103–10

    Abstract: Bariatric surgery is currently the most effective treatment for obesity. Vertical sleeve gastrectomy (VSG), a commonly applied bariatric procedure, involves surgically incising most of the volume of the stomach. In humans, partial loss of melanocortin ... ...

    Abstract Bariatric surgery is currently the most effective treatment for obesity. Vertical sleeve gastrectomy (VSG), a commonly applied bariatric procedure, involves surgically incising most of the volume of the stomach. In humans, partial loss of melanocortin receptor-4 (MC4R) activity is the most common monogenic correlate of obesity regardless of lifestyle. At present it is unclear whether genetic alteration of MC4R signaling modulates the beneficial effects of VSG. Following VSG, we analyzed body weight, food intake, glucose sensitivity, and macronutrient preference of wild-type and MC4R-deficient (Mc4r(+/-) and Mc4r(-/-)) rats compared with sham-operated controls. VSG reduced body weight and fat mass and improved glucose metabolism and also shifted preference toward carbohydrates and away from fat. All of this occurred independently of MC4R activity. In addition, MC4R was resequenced in 46 human subjects who underwent VSG. We observed common genetic variations in the coding sequence of MC4R in five subjects. However, none of those variations appeared to affect the outcome of VSG. Taken together, these data suggest that the beneficial effect of VSG on body weight and glucose metabolism is not mediated by alterations in MC4R activity.
    MeSH term(s) Adiposity ; Animals ; Behavior, Animal ; Disease Models, Animal ; Energy Intake ; Food Preferences ; Gastrectomy/methods ; Gastroplasty/methods ; Genetic Association Studies ; Genetic Variation ; Glucose/metabolism ; Glucose Intolerance/etiology ; Glucose Intolerance/prevention & control ; Heterozygote ; Homozygote ; Humans ; Male ; Mutation ; Obesity/genetics ; Obesity/metabolism ; Obesity/physiopathology ; Obesity/surgery ; Rats ; Receptor, Melanocortin, Type 4/chemistry ; Receptor, Melanocortin, Type 4/genetics ; Receptor, Melanocortin, Type 4/metabolism ; Weight Loss
    Chemical Substances MC4R protein, human ; Receptor, Melanocortin, Type 4 ; Glucose (IY9XDZ35W2)
    Language English
    Publishing date 2012-04-24
    Publishing country United States
    Document type Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
    ZDB-ID 603841-4
    ISSN 1522-1555 ; 0193-1849
    ISSN (online) 1522-1555
    ISSN 0193-1849
    DOI 10.1152/ajpendo.00159.2012
    Database MEDical Literature Analysis and Retrieval System OnLINE

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