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  1. Artikel: Low factor H-related 5 levels contribute to infection-triggered haemolytic uraemic syndrome and membranoproliferative glomerulonephritis.

    Gómez Delgado, Irene / Gutiérrez-Tenorio, Josué / Fraga Rodríguez, Gloria M / Cavero, Teresa / Arjona, Emilia / Sánchez-Corral, Pilar

    Clinical kidney journal

    2020  Band 14, Heft 2, Seite(n) 707–709

    Abstract: Dysregulation of the alternative complement pathway is a major pathogenic mechanism in two rare renal diseases: atypical haemolytic uraemic syndrome (aHUS) and membranoproliferative glomerulonephritis (MPGN). We report on a 66-year-old male with chronic ... ...

    Abstract Dysregulation of the alternative complement pathway is a major pathogenic mechanism in two rare renal diseases: atypical haemolytic uraemic syndrome (aHUS) and membranoproliferative glomerulonephritis (MPGN). We report on a 66-year-old male with chronic hepatitis C virus (HCV) infection and a combined liver-kidney transplant that was diagnosed with MPGN at the age of 63 years and a 5-year-old boy who presented with aHUS at the age of 21 months following a
    Sprache Englisch
    Erscheinungsdatum 2020-03-17
    Erscheinungsland England
    Dokumenttyp Case Reports
    ZDB-ID 2655800-2
    ISSN 2048-8513 ; 2048-8505
    ISSN (online) 2048-8513
    ISSN 2048-8505
    DOI 10.1093/ckj/sfaa004
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  2. Artikel ; Online: Possible role for rare TRPM7 variants in patients with hypomagnesaemia with secondary hypocalcaemia.

    Vargas-Poussou, Rosa / Claverie-Martin, Felix / Prot-Bertoye, Caroline / Carotti, Valentina / van der Wijst, Jenny / Perdomo-Ramirez, Ana / Fraga-Rodriguez, Gloria M / Hureaux, Marguerite / Bos, Caro / Latta, Femke / Houillier, Pascal / Hoenderop, Joost G J / de Baaij, Jeroen H F

    Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association

    2022  Band 38, Heft 3, Seite(n) 679–690

    Abstract: Background: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum ... ...

    Abstract Background: Hypomagnesaemia with secondary hypocal-caemia (HSH) is a rare autosomal recessive disorder caused by pathogenic variants in TRPM6, encoding the channel-kinase transient receptor potential melastatin type 6. Patients have very low serum magnesium (Mg2+) levels and suffer from muscle cramps and seizures. Despite genetic testing, a subgroup of HSH patients remains without a diagnosis.
    Methods: In this study, two families with an HSH phenotype but negative for TRPM6 pathogenic variants were subjected to whole exome sequencing. Using a complementary combination of biochemical and functional analyses in overexpression systems and patient-derived fibroblasts, the effect of the TRPM7-identified variants on Mg2+ transport was examined.
    Results: For the first time, variants in TRPM7 were identified in two families as a potential cause for hereditary HSH. Patients suffer from seizures and muscle cramps due to magnesium deficiency and episodes of hypocalcaemia. In the first family, a splice site variant caused the incorporation of intron 1 sequences into the TRPM7 messenger RNA and generated a premature stop codon. As a consequence, patient-derived fibroblasts exhibit decreased cell growth. In the second family, a heterozygous missense variant in the pore domain resulted in decreased TRPM7 channel activity.
    Conclusions: We establish TRPM7 as a prime candidate gene for autosomal dominant hypomagnesaemia and secondary hypocalcaemia. Screening of unresolved patients with hypocalcaemia and secondary hypocalcaemia may further establish TRPM7 pathogenic variants as a novel Mendelian disorder.
    Mesh-Begriff(e) Humans ; Magnesium ; Hypocalcemia ; TRPM Cation Channels/metabolism ; Muscle Cramp/complications ; Protein Serine-Threonine Kinases/metabolism
    Chemische Substanzen Magnesium (I38ZP9992A) ; TRPM Cation Channels ; TRPM7 protein, human (EC 2.7.11.1) ; Protein Serine-Threonine Kinases (EC 2.7.11.1)
    Sprache Englisch
    Erscheinungsdatum 2022-05-17
    Erscheinungsland England
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 90594-x
    ISSN 1460-2385 ; 0931-0509
    ISSN (online) 1460-2385
    ISSN 0931-0509
    DOI 10.1093/ndt/gfac182
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  3. Artikel ; Online: Eculizumab in a child with atypical haemolytic uraemic syndrome and haemophagocytic lymphohistiocytosis triggered by cytomegalovirus infection.

    Fraga-Rodriguez, Gloria M / Brió-Sanagustin, Sonia / Turón-Viñas, Eulalia / Dixon, Bradley P / Carreras-González, Eduardo

    BMJ case reports

    2017  Band 2017

    Abstract: We present the case of a 21-month-old girl with two rare and life-threatening conditions, atypical haemolytic uraemic syndrome (aHUS) and haemophagocytic lymphohistiocytosis (HLH), triggered by a cytomegalovirus (CMV) infection. Soon after admission, the ...

    Abstract We present the case of a 21-month-old girl with two rare and life-threatening conditions, atypical haemolytic uraemic syndrome (aHUS) and haemophagocytic lymphohistiocytosis (HLH), triggered by a cytomegalovirus (CMV) infection. Soon after admission, the girl became anuric and required continuous venovenous haemodiafiltration.Initial treatments included methylprednisolone, fibrinogen and plasma infusion (for HLH), plasmapheresis (for thrombotic microangiopathy), immunoglobulins (for inflammation), ganciclovir (for CMV infection) and the antibiotic cefotaxime. On day 5, eculizumab (600 mg) was given for aHUS, with rapid improvement in haematological and nephrological parameters. Despite a subsequent isolated episode of right heart thrombosis that resolved with heparin treatment, the patient showed a favourable response to eculizumab (300 mg/15 days), with improved renal function, normal haematological values, and no treatment complications. In conclusion, eculizumab effectively treated aHUS in this case despite a comorbid immunological disease.
    Mesh-Begriff(e) Antibodies, Monoclonal, Humanized/administration & dosage ; Antibodies, Monoclonal, Humanized/therapeutic use ; Atypical Hemolytic Uremic Syndrome/drug therapy ; Atypical Hemolytic Uremic Syndrome/etiology ; Cytomegalovirus Infections/drug therapy ; Female ; Humans ; Infant ; Kidney Function Tests ; Lymphohistiocytosis, Hemophagocytic/drug therapy ; Lymphohistiocytosis, Hemophagocytic/etiology ; Treatment Outcome
    Chemische Substanzen Antibodies, Monoclonal, Humanized ; eculizumab (A3ULP0F556)
    Sprache Englisch
    Erscheinungsdatum 2017-04-26
    Erscheinungsland England
    Dokumenttyp Case Reports ; Journal Article
    ISSN 1757-790X
    ISSN (online) 1757-790X
    DOI 10.1136/bcr-2016-219065
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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  4. Artikel ; Online: Complement Activation and Thrombotic Microangiopathies.

    Palomo, Marta / Blasco, Miquel / Molina, Patricia / Lozano, Miquel / Praga, Manuel / Torramade-Moix, Sergi / Martinez-Sanchez, Julia / Cid, Joan / Escolar, Gines / Carreras, Enric / Paules, Cristina / Crispi, Fatima / Quintana, Luis F / Poch, Esteban / Rodas, Lida / Goma, Emma / Morelle, Johann / Espinosa, Mario / Morales, Enrique /
    Avila, Ana / Cabello, Virginia / Ariceta, Gema / Chocron, Sara / Manrique, Joaquin / Barros, Xoana / Martin, Nadia / Huerta, Ana / Fraga-Rodriguez, Gloria M / Cao, Mercedes / Martin, Marisa / Romera, Ana Maria / Moreso, Francesc / Manonelles, Anna / Gratacos, Eduard / Pereira, Arturo / Campistol, Josep M / Diaz-Ricart, Maribel

    Clinical journal of the American Society of Nephrology : CJASN

    2019  Band 14, Heft 12, Seite(n) 1719–1732

    Abstract: Background and objectives: Atypical hemolytic uremic syndrome is a form of thrombotic microangiopathy caused by dysregulation of the alternative complement pathway. There is evidence showing complement activation in other thrombotic microangiopathies. ... ...

    Abstract Background and objectives: Atypical hemolytic uremic syndrome is a form of thrombotic microangiopathy caused by dysregulation of the alternative complement pathway. There is evidence showing complement activation in other thrombotic microangiopathies. The aim of this study was to evaluate complement activation in different thrombotic microangiopathies and to monitor treatment response.
    Design, setting, participants, & measurements: Complement activation was assessed by exposing endothelial cells to sera or activated-patient plasma-citrated plasma mixed with a control sera pool (1:1)-to analyze C5b-9 deposits by immunofluorescence. Patients with atypical hemolytic uremic syndrome (
    Results: Acute phase atypical hemolytic uremic syndrome-activated plasma induced an increased C5b-9 deposition on endothelial cells. Standard and lower doses of eculizumab inhibited C5b-9 deposition in all patients with atypical hemolytic uremic syndrome, except in two who showed partial remission and clinical relapse. Significant fibrin formation was observed together with C5b-9 deposition. Results obtained using activated-plasma samples were more marked and reproducible than those obtained with sera. C5b-9 deposition was also increased with samples from patients with HELLP (all cases) and preeclampsia (90%) at disease onset. This increase was sustained in those with HELLP after 40 days, and levels normalized in patients with both HELLP and preeclampsia after 6-9 months. Complement activation in those with malignant hypertension was at control levels.
    Conclusions: The proposed methodology identifies complement overactivation in patients with atypical hemolytic uremic syndrome at acute phase and in other diseases such as HELLP syndrome and preeclampsia. Moreover, it is sensitive enough to individually assess the efficiency of the C5 inhibition treatment.
    Mesh-Begriff(e) Adult ; Antibodies, Monoclonal, Humanized/therapeutic use ; Atypical Hemolytic Uremic Syndrome/drug therapy ; Atypical Hemolytic Uremic Syndrome/immunology ; Complement Activation ; Complement Membrane Attack Complex/metabolism ; Female ; HELLP Syndrome/immunology ; Humans ; Male ; Pre-Eclampsia/drug therapy ; Pre-Eclampsia/immunology ; Pregnancy ; Thrombotic Microangiopathies/drug therapy ; Thrombotic Microangiopathies/immunology
    Chemische Substanzen Antibodies, Monoclonal, Humanized ; Complement Membrane Attack Complex ; eculizumab (A3ULP0F556)
    Sprache Englisch
    Erscheinungsdatum 2019-11-06
    Erscheinungsland United States
    Dokumenttyp Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 2226665-3
    ISSN 1555-905X ; 1555-9041
    ISSN (online) 1555-905X
    ISSN 1555-9041
    DOI 10.2215/CJN.05830519
    Datenquelle MEDical Literature Analysis and Retrieval System OnLINE

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