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  1. Article ; Online: Temporary gastric banding in a premature infant with esophageal atresia and severe respiratory distress syndrome.

    Laeven, Nina F A / Derikx, Joep P M / van Hoorn, Jeroen H L / van Heurn, L W Ernest

    Pediatric surgery international

    2015  Volume 31, Issue 4, Page(s) 413–415

    Abstract: The management of premature, very low birth weight infants with esophageal atresia and tracheo-esophageal fistula complicated by respiratory insufficiency is still challenging. We present a case of a premature, very low weight infant in whom we used a ... ...

    Abstract The management of premature, very low birth weight infants with esophageal atresia and tracheo-esophageal fistula complicated by respiratory insufficiency is still challenging. We present a case of a premature, very low weight infant in whom we used a technique of temporary gastric banding to control the air leak through the fistula.
    MeSH term(s) Esophageal Atresia/complications ; Esophageal Atresia/surgery ; Gastroplasty/methods ; Gastrostomy/methods ; Humans ; Infant, Newborn ; Infant, Premature ; Infant, Premature, Diseases/surgery ; Male ; Respiratory Distress Syndrome, Newborn/diagnosis ; Respiratory Distress Syndrome, Newborn/etiology ; Severity of Illness Index
    Language English
    Publishing date 2015-04
    Publishing country Germany
    Document type Case Reports ; Journal Article
    ZDB-ID 632773-4
    ISSN 1437-9813 ; 0179-0358
    ISSN (online) 1437-9813
    ISSN 0179-0358
    DOI 10.1007/s00383-015-3661-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 2138: Show issues Location:
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  2. Article ; Online: Identifying cystogenic paracrine signaling molecules in cyst fluid of patients with polycystic kidney disease.

    Kenter, Annegien T / van Rossum-Fikkert, Sari E / Salih, Mahdi / Verhagen, Paul C M S / van Leenders, Geert J L H / Demmers, Jeroen A A / Jansen, Gert / Gribnau, Joost / Zietse, Robert / Hoorn, Ewout J

    American journal of physiology. Renal physiology

    2018  Volume 316, Issue 1, Page(s) F204–F213

    Abstract: In autosomal dominant polycystic kidney disease (ADPKD) paracrine signaling molecules in cyst fluid can induce proliferation and cystogenesis of neighboring renal epithelial cells. However, the identity of this cyst-inducing factor is still unknown. The ... ...

    Abstract In autosomal dominant polycystic kidney disease (ADPKD) paracrine signaling molecules in cyst fluid can induce proliferation and cystogenesis of neighboring renal epithelial cells. However, the identity of this cyst-inducing factor is still unknown. The aim of this study was to identify paracrine signaling proteins in cyst fluid using a 3D in vitro cystogenesis assay. We collected cyst fluid from 15 ADPKD patients who underwent kidney or liver resection (55 cysts from 13 nephrectomies, 5 cysts from 2 liver resections). For each sample, the ability to induce proliferation and cyst formation was tested using the cystogenesis assay (RPTEC/TERT1 cells in Matrigel with cyst fluid added for 14 days). Kidney cyst fluid induced proliferation and cyst growth of renal epithelial cells in a dose-dependent fashion. Liver cyst fluid also induced cystogenesis. Using size exclusion chromatography, 56 cyst fluid fractions were obtained of which only the fractions between 30 and 100 kDa showed cystogenic potential. Mass spectrometry analysis of samples that tested positive or negative in the assay identified 43 candidate cystogenic proteins. Gene ontology analysis showed an enrichment for proteins classified as enzymes, immunity proteins, receptors, and signaling proteins. A number of these proteins have previously been implicated in ADPKD, including secreted frizzled-related protein 4, S100A8, osteopontin, and cysteine rich with EGF-like domains 1. In conclusion, both kidney and liver cyst fluids contain paracrine signaling molecules that drive cyst formation. Using size exclusion chromatography and mass spectrometry, we procured a candidate list for future studies. Ultimately, cystogenic paracrine signaling molecules may be targeted to abrogate cystogenesis in ADPKD.
    MeSH term(s) Adult ; Aged ; Cell Line ; Cell Proliferation ; Chromatography, Gel ; Cyst Fluid/metabolism ; Cysts/metabolism ; Cysts/pathology ; Epithelial Cells/metabolism ; Epithelial Cells/pathology ; Female ; Humans ; Kidney Tubules, Proximal/metabolism ; Kidney Tubules, Proximal/pathology ; Liver Diseases/metabolism ; Liver Diseases/pathology ; Male ; Middle Aged ; Paracrine Communication ; Polycystic Kidney, Autosomal Dominant/metabolism ; Polycystic Kidney, Autosomal Dominant/pathology ; Proteomics/methods ; Signal Transduction ; Tandem Mass Spectrometry
    Language English
    Publishing date 2018-11-07
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 603837-2
    ISSN 1522-1466 ; 0363-6127
    ISSN (online) 1522-1466
    ISSN 0363-6127
    DOI 10.1152/ajprenal.00470.2018
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    Uc I Zs.89: Show issues Location:
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  3. Article ; Online: PET-CT imaging with [(18)F]-gefitinib to measure Abcb1a/1b (P-gp) and Abcg2 (Bcrp1) mediated drug-drug interactions at the murine blood-brain barrier.

    Vlaming, Maria L H / Läppchen, Tilman / Jansen, Harm T / Kivits, Suzanne / van Driel, Andy / van de Steeg, Evita / van der Hoorn, José W / Sio, Charles F / Steinbach, Oliver C / DeGroot, Jeroen

    Nuclear medicine and biology

    2015  Volume 42, Issue 11, Page(s) 833–841

    Abstract: Introduction: The efflux transporters P-glycoprotein (P-gp, ABCB1) and breast cancer resistance protein (BCRP, ABCG2) are expressed at the blood-brain barrier (BBB), and can limit the access of a wide range of drugs to the brain. In this study we ... ...

    Abstract Introduction: The efflux transporters P-glycoprotein (P-gp, ABCB1) and breast cancer resistance protein (BCRP, ABCG2) are expressed at the blood-brain barrier (BBB), and can limit the access of a wide range of drugs to the brain. In this study we developed a PET-CT imaging method for non-invasive, quantitative analysis of the effect of ABCB1 and ABCG2 on brain penetration of the anti-cancer drug gefitinib, and demonstrated the applicability of this method for identification and quantification of potential modulators of ABCB1 and ABCB2 using the dual inhibitor elacridar.
    Methods: In vitro cellular accumulation studies with [(14)C]-gefitinib were conducted in LLC-PK1, MDCKII, and the corresponding ABCB1/Abcb1a and ABCG2/Abcg2 overexpressing cell lines. Subsequently, in vivo brain penetration of [(18)F]-gefitinib was quantified by PET-CT imaging studies in wild-type, Abcg2(-/-), Abcb1a/1b(-/-), and Abcb1a/1b;Abcg2(-/-) mice.
    Results: In vitro studies showed that [(14)C]-gefitinib is a substrate of the human ABCB1 and ABCG2 transporters. After i.v. administration of [(18)F]-gefitinib (1mg/kg), PET-CT imaging showed 2.3-fold increased brain levels of [(18)F]-gefitinib in Abcb1a/1b;Abcg2(-/-) mice, compared to wild-type. Levels in single knockout animals were not different from wild-type, showing that Abcb1a/1b and Abcg2 together limit access of [(18)F]-gefitinib to the brain. Furthermore, enhanced brain accumulation of [(18)F]-gefitinib after administration of the ABCB1 and ABCG2 inhibitor elacridar (10 mg/kg) could be quantified with PET-CT imaging.
    Conclusions: PET-CT imaging with [(18)F]-gefitinib is a powerful tool to non-invasively assess potential ABCB1- and ABCG2-mediated drug-drug interactions (DDIs) in vivo.
    Advances in knowledge and implications for patient care: This minimally-invasive, [(18)F]-based PET-CT imaging method shows the interplay of ABCB1 and ABCG2 at the BBB in vivo. The method may be applied in the future to assess ABCB1 and ABCG2 activity at the BBB in humans, and for personalized treatment with drugs that are substrates of ABCB1 and/or ABCG2.
    MeSH term(s) ATP Binding Cassette Transporter, Subfamily B/metabolism ; ATP Binding Cassette Transporter, Subfamily G, Member 2 ; ATP-Binding Cassette Transporters/metabolism ; Acridines/pharmacology ; Animals ; Biological Transport/drug effects ; Blood-Brain Barrier/diagnostic imaging ; Blood-Brain Barrier/drug effects ; Blood-Brain Barrier/metabolism ; Cell Line, Tumor ; Drug Interactions ; Fluorine Radioisotopes ; Gefitinib ; Humans ; Male ; Mice ; Positron-Emission Tomography ; Quinazolines/metabolism ; Quinazolines/pharmacokinetics ; Tetrahydroisoquinolines/pharmacology ; Tissue Distribution ; Tomography, X-Ray Computed
    Chemical Substances ATP Binding Cassette Transporter, Subfamily B ; ATP Binding Cassette Transporter, Subfamily G, Member 2 ; ATP-Binding Cassette Transporters ; Abcg2 protein, mouse ; Acridines ; Fluorine Radioisotopes ; Quinazolines ; Tetrahydroisoquinolines ; Abcb1b protein, mouse (EC 7.6.2.2) ; Elacridar (N488540F94) ; Gefitinib (S65743JHBS)
    Language English
    Publishing date 2015-07-15
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1138098-6
    ISSN 1872-9614 ; 0883-2897 ; 0969-8051
    ISSN (online) 1872-9614
    ISSN 0883-2897 ; 0969-8051
    DOI 10.1016/j.nucmedbio.2015.07.004
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    Zs.A 1090: Show issues Location:
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  4. Article ; Online: Expanding the Phenotypic Spectrum of Kenny-Caffey Syndrome.

    Schigt, Heidi / Bald, Martin / van der Eerden, Bram C J / Gal, Lars / Ilenwabor, Barnabas P / Konrad, Martin / Levine, Michael A / Li, Dong / Mache, Christoph J / Mackin, Sharon / Perry, Colin / Rios, Francisco J / Schlingmann, Karl Peter / Storey, Ben / Trapp, Christine M / Verkerk, Annemieke J M H / Zillikens, M Carola / Touyz, Rhian M / Hoorn, Ewout J /
    Hoenderop, Joost G J / de Baaij, Jeroen H F

    The Journal of clinical endocrinology and metabolism

    2023  Volume 108, Issue 9, Page(s) e754–e768

    Abstract: Context: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the ... ...

    Abstract Context: Kenny-Caffey syndrome (KCS) is a rare hereditary disorder characterized by short stature, hypoparathyroidism, and electrolyte disturbances. KCS1 and KCS2 are caused by pathogenic variants in TBCE and FAM111A, respectively. Clinically the phenotypes are difficult to distinguish.
    Objective: The objective was to determine and expand the phenotypic spectrum of KCS1 and KCS2 in order to anticipate complications that may arise in these disorders.
    Methods: We clinically and genetically analyzed 10 KCS2 patients from 7 families. Because we found unusual phenotypes in our cohort, we performed a systematic review of genetically confirmed KCS cases using PubMed and Scopus. Evaluation by 3 researchers led to the inclusion of 26 papers for KCS1 and 16 for KCS2, totaling 205 patients. Data were extracted following the Cochrane guidelines and assessed by 2 independent researchers.
    Results: Several patients in our KCS2 cohort presented with intellectual disability (3/10) and chronic kidney disease (6/10), which are not considered common findings in KCS2. Systematic review of all reported KCS cases showed that the phenotypes of KCS1 and KCS2 overlap for postnatal growth retardation (KCS1: 52/52, KCS2: 23/23), low parathyroid hormone levels (121/121, 16/20), electrolyte disturbances (139/139, 24/27), dental abnormalities (47/50, 15/16), ocular abnormalities (57/60, 22/23), and seizures/spasms (103/115, 13/16). Symptoms more prevalent in KCS1 included intellectual disability (74/80, 5/24), whereas in KCS2 bone cortical thickening (1/18, 16/20) and medullary stenosis (7/46, 27/28) were more common.
    Conclusion: Our case series established chronic kidney disease as a new feature of KCS2. In the literature, we found substantial overlap in the phenotypic spectra of KCS1 and KCS2, but identified intellectual disability and the abnormal bone phenotype as the most distinguishing features.
    MeSH term(s) Humans ; Intellectual Disability/genetics ; Intellectual Disability/diagnosis ; Hyperostosis, Cortical, Congenital/genetics ; Phenotype ; Electrolytes ; Hypoparathyroidism/genetics
    Chemical Substances Electrolytes
    Language English
    Publishing date 2023-03-12
    Publishing country United States
    Document type Systematic Review ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgad147
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  5. Article ; Online: Withdrawn as duplicate: Expanding the phenotypic spectrum of Kenny-Caffey syndrome: a case series and systematic literature review.

    Schigt, Heidi / Bald, Martin / van der Eerden, Bram C J / Gal, Lars / Ilenwabor, Barnabas P / Konrad, Martin / Levine, Michael A / Li, Dong / Mache, Christoph J / Mackin, Sharon / Perry, Colin / Rios, Francisco J / Schlingmann, Karl Peter / Storey, Ben / Trapp, Christine M / Verkerk, Annemieke J M H / Zillikens, M Carola / Touyz, Rhian M / Hoorn, Ewout J /
    Hoenderop, Joost G J / de Baaij, Jeroen H F

    The Journal of clinical endocrinology and metabolism

    2023  Volume 108, Issue 7, Page(s) e501

    Abstract: This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147. ...

    Abstract This article has been withdrawn due to a publisher error that caused it to be duplicated. The definitive version of this article is published under https://doi.org/10.1210/clinem/dgad147.
    Language English
    Publishing date 2023-03-13
    Publishing country United States
    Document type Systematic Review ; Journal Article
    ZDB-ID 3029-6
    ISSN 1945-7197 ; 0021-972X
    ISSN (online) 1945-7197
    ISSN 0021-972X
    DOI 10.1210/clinem/dgad154
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  6. Article ; Online: Pentalogy of Cantrell: two patients and a review to determine prognostic factors for optimal approach.

    van Hoorn, Jeroen H L / Moonen, Rob M J / Huysentruyt, Clément J R / van Heurn, L W Ernest / Offermans, Jos P M / Mulder, A L M Twan

    European journal of pediatrics

    2008  Volume 167, Issue 1, Page(s) 29–35

    Abstract: ... showed profound intracardiac defects. The girl died 33 h after birth. The second patient was a female ...

    Abstract Two patients with incomplete pentalogy of Cantrell are described. The first was a girl with a large omphalocele with evisceration of the heart, liver and intestines with an intact sternum. Echocardiography showed profound intracardiac defects. The girl died 33 h after birth. The second patient was a female fetus with ectopia cordis (EC) without intracardiac anomalies; a large omphalocele with evisceration of the heart, stomach, spleen and liver; a hypoplastic sternum and rib cage; and a scoliosis. The pregnancy was terminated. A review of patients described in the literature is presented with the intention of finding prognostic factors for an optimal approach to patients with the pentalogy of Cantrell. In conclusion the prognosis seems to be poorer in patients with the complete form of pentalogy of Cantrell, EC, and patients with associated anomalies. Intracardial defects do not seem to be a prognostic factor.
    MeSH term(s) Abdominal Wall/abnormalities ; Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/physiopathology ; Fatal Outcome ; Female ; Hernia, Umbilical/complications ; Hernia, Umbilical/diagnostic imaging ; Hernia, Umbilical/pathology ; Humans ; Infant, Newborn ; Prenatal Diagnosis ; Prognosis ; Tetralogy of Fallot/complications ; Tetralogy of Fallot/diagnostic imaging ; Ultrasonography
    Language English
    Publishing date 2008-01
    Publishing country Germany
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 194196-3
    ISSN 1432-1076 ; 0340-6199 ; 0943-9676
    ISSN (online) 1432-1076
    ISSN 0340-6199 ; 0943-9676
    DOI 10.1007/s00431-007-0578-9
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  7. Book ; Online: Grote opgaven in een beperkte ruimte

    Hamers, David / Kuiper, Rienk / van der Wouden, Ries / van Dam, Frank / van Gaalen, Frank / van Hoorn, Anton / Pols, Leo / van Eck, Jan Ritsema / Bastiaanssen, Jeroen / Evers, David / Franken, Ron / Ligtvoet, Willem / Muilwijk, Hanneke / Rijken, Bart / Snellen, Daniëlle / Dirkx, Joep

    Ruimtelijke keuzes voor een toekomstbestendige leefomgeving

    2021  

    Keywords Life Science
    Language Dutch
    Publisher PBL Planbureau voor de Leefomgeving
    Publishing country nl
    Document type Book ; Online
    Database BASE - Bielefeld Academic Search Engine (life sciences selection)

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