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  1. Article: Monoclonal Gammopathy of Renal Significance with Deposits of Infrequent Morphology: Two Case Reports of Light and Heavy Chain Deposition Disease with Atypical Presentation and Literature Review.

    De La Flor, José C / Monroy-Condori, Maribel / Apaza-Chavez, Jacqueline / Arenas-Moncaleano, Iván / Díaz, Francisco / Guerra-Torres, Xavier E / Morales-Montoya, Jorge L / Lerma-Verdejo, Ana / Sandoval, Edna / Villa, Daniel / Vieru, Coca-Mihaela

    Medicines (Basel, Switzerland)

    2023  Volume 10, Issue 10

    Abstract: Background: Monoclonal immunoglobulin deposition disease (MIDD) includes three entities: light chain deposition disease (LCDD), heavy chain deposition disease (HCDD) and light and heavy chain deposition disease (LHCDD). The renal presentation can ... ...

    Abstract Background: Monoclonal immunoglobulin deposition disease (MIDD) includes three entities: light chain deposition disease (LCDD), heavy chain deposition disease (HCDD) and light and heavy chain deposition disease (LHCDD). The renal presentation can manifest with varying degrees of proteinuria and/or nephrotic syndrome, microhematuria, and often leads to end-stage renal disease. Given the rarity of LHCDD, therapeutic approaches for this condition remain inconclusive, as clinical trials are limited.
    Case presentation: We report two male patients with underlying monoclonal gammopathy of renal significance (MGRS) associated with LHCDD lesions. Both cases had non-nephrotic proteinuria, moderately impaired renal function, and normal levels of C3 and C4. Light microscopy of the renal biopsies in both patients did not show lesions of nodular glomerulosclerosis. Immunofluorescence showed a staining pattern with interrupted linear IgA-κ in patient #1 and IgA-λ in patient #2 only along the glomerular basement membrane (GBM). Electron microscopy of patient #1 revealed electrodense deposits in the subendothelial and mesangial areas only along the GBM.
    Discussion: In this case series, we discuss the clinical, analytical, and histopathological findings of two rare cases of LHCDD. Both patients exhibited IgA monoclonality and were diagnosed with monoclonal gammopathy of undetermined significance (MGUS) by the hematology department at the time of renal biopsy. Treatment with steroids and cytotoxic agents targeting the clone cells responsible for the deposition disease resulted in a favorable renal and hematologic response.
    Language English
    Publishing date 2023-10-04
    Publishing country Switzerland
    Document type Case Reports
    ZDB-ID 2777965-8
    ISSN 2305-6320
    ISSN 2305-6320
    DOI 10.3390/medicines10100055
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: An Unusual Case of Seronegative Cryoglobulinemic Glomerulonephritis with Dominant Organized IgA Deposits Associated with Staphylococcal Infection: Casual or Causal Relationship?

    De La Flor Merino, José C / Apaza, Jacqueline / Díaz, Francisco / Sandoval, Edna / Valga, Francisco / Villa, Daniel / Marschall, Alexander / Abascal, María Luisa / Rivas, Andrea / Cieza, Michael

    Glomerular diseases

    2023  Volume 3, Issue 1, Page(s) 140–147

    Abstract: Introduction: Cryoglobulinemia refers to the presence of cryoglobulins (CGs) in the serum, encompassing a group of diseases caused by the type of circulating GC. Cryoglobulinemic glomerulonephritis (CryoGN) is the principal manifestation of renal ... ...

    Abstract Introduction: Cryoglobulinemia refers to the presence of cryoglobulins (CGs) in the serum, encompassing a group of diseases caused by the type of circulating GC. Cryoglobulinemic glomerulonephritis (CryoGN) is the principal manifestation of renal involvement. The diagnosis may be challenging because the hallmark of cryoglobulinemia is the detection of CG in the serum. However, cases of CryoGN without serological evidence of CGs are not uncommon in clinical practice, often diagnosed by anatomopathological findings in the renal biopsy.
    Case presentation: We report the case of an 86-year-old male who developed renal impairment, nephritic syndrome, and nephrotic-range proteinuria, without serological evidence of CGs, associated with staphylococcal bacteremia without apparent focus. Renal biopsy and pathological examination showed a membranoproliferative glomerulonephritis pattern with CD61-negative pseudothrombi. Immunofluorescence microscopy showed atypical IgA-dominant deposits. Electron microscopy revealed amorphous subendothelial and mesangial deposits and organized electrodense deposits within capillary loops (pseudothrombi) with microtubular substructure measuring 20-40 nm in thickness. These findings were consistent with seronegative CryoGN and microtubular organized atypical IgA-dominant deposits.
    Discussion: In this report, we discuss the clinical, analytical, and histopathological findings of a rare case of CryoGN without serological evidence of CGs. Regarding the etiology that triggered the glomerular disease in our patient, we conducted an exhaustive study in order to determine the underlying cause of CryoGN. At the time of biopsy, the patient had an active staphylococcal bacteremia. There are reports that postulate that staphylococcal antigens drive activation of immune system and in consequence, could cause this rare form of IgA-dominant glomerulonephritis with cryoglobulinemic features. After ruling out other causes of cryoglobulinemia, we discuss a plausible causal relationship of the staphylococcal infection in the pathogenesis of CryoGN in our patient.
    Language English
    Publishing date 2023-07-03
    Publishing country Switzerland
    Document type Case Reports
    ISSN 2673-3633
    ISSN (online) 2673-3633
    DOI 10.1159/000531737
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  3. Article ; Online: Waldenström's Macroglobulinemia and Cryoglobulinemic Glomerulonephritis: An Unusual Case of Monoclonal Gammopathy of Renal Significance.

    De La Flor, José C / Sulca, Jesús de María / Rodríguez, Pablo / Villa, Daniel / Sandoval, Edna / Zamora, Rocío / Monroy-Condori, Maribel / Lipa, Roxana / Perez, Henry / Cieza, Michael

    Medical sciences (Basel, Switzerland)

    2023  Volume 11, Issue 4

    Abstract: Cryoglobulins are immunoglobulins that precipitate at temperatures below 37 °C and dissolve upon reheating. They can induce small-vessel vasculitis with renal involvement. Cryoglobulinemic glomerulonephritis is a rare manifestation that occurs in ... ...

    Abstract Cryoglobulins are immunoglobulins that precipitate at temperatures below 37 °C and dissolve upon reheating. They can induce small-vessel vasculitis with renal involvement. Cryoglobulinemic glomerulonephritis is a rare manifestation that occurs in patients with monoclonal gammopathy, specifically Waldenström's macroglobulinemia. We present the case of a 52-year-old patient with a history of cutaneous vasculitis and hypothyroidism, who presented with generalized edema, moderate anemia, hypercholesterolemia, nephrotic range proteinuria of 12.69 g/day, microhematuria, arterial hypertension, and hypocomplementemia via the classical pathway, without acute kidney injury and with negative serological studies and positive cryoglobulins in the second determination. Serum and urine protein electrophoresis and immunofixation studies showed a monoclonal band of IgM and kappa light chain. Renal biopsy was consistent with cryoglobulinemic glomerulonephritis. In the context of dysproteinemia and cryoglobulinemic glomerulonephritis, bone-marrow aspiration and biopsy were performed, leading to the diagnosis of Waldenström's macroglobulinemia. Monoclonal gammopathies have been described in association with type I cryoglobulinemias. This described association is uncommon, which is why we present this case, along with a review of the literature.
    MeSH term(s) Humans ; Middle Aged ; Cryoglobulins ; Glomerulonephritis/complications ; Glomerulonephritis/diagnosis ; Monoclonal Gammopathy of Undetermined Significance/complications ; Monoclonal Gammopathy of Undetermined Significance/diagnosis ; Paraproteinemias/complications ; Paraproteinemias/diagnosis ; Waldenstrom Macroglobulinemia/complications ; Waldenstrom Macroglobulinemia/diagnosis
    Chemical Substances Cryoglobulins
    Language English
    Publishing date 2023-12-05
    Publishing country Switzerland
    Document type Case Reports ; Journal Article ; Review
    ZDB-ID 2754473-4
    ISSN 2076-3271 ; 2076-3271
    ISSN (online) 2076-3271
    ISSN 2076-3271
    DOI 10.3390/medsci11040077
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  4. Article: Monoclonal Gammopathy of Renal Significance with Deposits of Peculiar Morphology and Injuries of Secondary Thrombotic Microangiopathy: A Case Report and Review of the Literature.

    De La Flor, José C / Alonso, Marina / Sandoval, Edna / Marschall, Alexander / Rodeles, Miguel

    Case reports in nephrology

    2020  Volume 2020, Page(s) 6679857

    Abstract: We present the case of an 82-year-old woman diagnosed with monoclonal gammopathy of renal significance (MGRS) with the presence of different and peculiar kidney lesions, who began treatment with bortezomib and dexamethasone, presenting during her ... ...

    Abstract We present the case of an 82-year-old woman diagnosed with monoclonal gammopathy of renal significance (MGRS) with the presence of different and peculiar kidney lesions, who began treatment with bortezomib and dexamethasone, presenting during her evolution a relapse. Although the bone marrow biopsy in this case showed plasma cells as pathologic clone and there was also a reduction after chemotherapeutic treatment, rituximab was proposed as a second line. We suspected that the relapse was possibly due to another precursor as B-cell or lymphoplasmacytic cell clone. We review the literature and suggest that the treatment for MGRS should be patient-tailored, preferably by consulting a multidisciplinary team. Future research is needed to better understand the disease course and establish the efficacy and safety of the therapeutic approach for the relapse of MGRS.
    Language English
    Publishing date 2020-12-08
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2627652-5
    ISSN 2090-665X ; 2090-6641
    ISSN (online) 2090-665X
    ISSN 2090-6641
    DOI 10.1155/2020/6679857
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article: An Exceptional Case of Light Chain Only Variant of Proliferative Glomerulonephritis with Monoclonal Immunoglobulin Deposits Secondary to Chronic Lymphocytic Leukemia: A Case Report and Review of the Literature.

    De La Flor, José C / Apaza, Jacqueline / Díaz, Francisco / Sandoval, Edna / Linares, Tania / Marschall, Alexander / Núñez, Patricia / Rivas-Nieto, Andrea Cecilia / Ruiz, Elisa

    Case reports in nephrology

    2022  Volume 2022, Page(s) 9207282

    Abstract: We present the case of an 86-year-old Caucasian male with an 11-year history of low-grade chronic lymphocytic leukemia (CLL) presenting with nephrotic syndrome (NS). Renal biopsy findings showed a diffuse mesangial and endocapillary proliferative ... ...

    Abstract We present the case of an 86-year-old Caucasian male with an 11-year history of low-grade chronic lymphocytic leukemia (CLL) presenting with nephrotic syndrome (NS). Renal biopsy findings showed a diffuse mesangial and endocapillary proliferative glomerulonephritis (GN) lesion with fine granular deposits, consistent with a rare morphologic variant of proliferative glomerulonephritis with monoclonal immunoglobulin deposits (PGNMID)-lambda light chain (LC) only. Monthly combination therapy of rituximab (500 mg/m
    Language English
    Publishing date 2022-10-19
    Publishing country United States
    Document type Case Reports
    ZDB-ID 2627652-5
    ISSN 2090-665X ; 2090-6641
    ISSN (online) 2090-665X
    ISSN 2090-6641
    DOI 10.1155/2022/9207282
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  6. Article: High levels of latent antithrombin in plasma from patients with antithrombin deficiency.

    de la Morena-Barrio, María / Sandoval, Edna / Llamas, Pilar / Wypasek, Ewa / Toderici, Mara / Navarro-Fernández, José / Rodríguez-Alen, Agustín / Revilla, Nuria / López-Gálvez, Raquel / Miñano, Antonia / Padilla, José / de la Morena-Barrio, Belén / Cuesta, Jorge / Corral, Javier / Vicente, Vicente

    Thrombosis and haemostasis

    2017  Volume 117, Issue 5, Page(s) 880–888

    Abstract: Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational ... ...

    Abstract Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational mutations identified in serpins cause polymerisation. Only three mutations in SERPINC1 affecting two residues have been found to favour transformation to the latent conformation of antithrombin, another hyperstable non-anticoagulant form with strong antiangiogenic activity that constitutes 3 % of plasma antithrombin in healthy subjects. The analysis of latent antithrombin in 141 unrelated patients with antithrombin deficiency carrying 89 different SERPINC1 mutations identified four cases with higher levels than that of controls: p.Pro439Thr, p.Pro461Ser, p.Met283Val, and p.His401Tyr, the last also with circulating polymers. Heating of plasma at 42ºC exacerbated the transformation to the latent conformation in p.Pro439Thr and p.Pro461Ser. The conformational effect of p.Met283Val, the mutation associated with the highest levels of latent antithrombin detected in four members of a family, was verified in a recombinant model. Antithrombin deficiency in these cases should be classified as pleiotropic based on the impaired reactivity and low heparin affinity of the variant. Despite high levels of latent antithrombin (up to 80 µg/ml in p.Met283Val carriers), no vascular defects were described in carriers of these mutations. In conclusion, our study identifies new residues involved in the structural stability of antithrombin (and potentially of all serpins). High levels of endogenous latent antithrombin seem to play a minor antiangiogenic effect. Finally, pleiotropic deficiencies may be caused by mutations inducing transformation to the latent conformation.
    Language English
    Publishing date 2017-05-03
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 518294-3
    ISSN 0340-6245
    ISSN 0340-6245
    DOI 10.1160/TH16-11-0866
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

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  7. Article: High levels of latent antithrombin in plasma from patients with antithrombin deficiency

    de la Morena-Barrio, María / Sandoval, Edna / Llamas, Pilar / Wypasek, Ewa / Toderici, Mara / Navarro-Fernández, José / Rodríguez-Alen, Agustin / Revilla, Nuria / López-Gálvez, Raquel / Miñano, Antonia / Padilla, José / de la Morena-Barrio, Belén / Cuesta, Jorge / Corral, Javier / Vicente, Vicente

    Thrombosis and Haemostasis

    2017  Volume 117, Issue 05, Page(s) 880–888

    Abstract: Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational ... ...

    Abstract Antithrombin is an anticoagulant serpin that efficiently inhibits multiple procoagulant proteases. The cost for the structural flexibility required for this function is the vulnerability to mutations that impact its folding pathway. Most conformational mutations identified in serpins cause polymerisation. Only three mutations in SERPINC1 affecting two residues have been found to favour transformation to the latent conformation of antithrombin, another hyperstable non-anticoagulant form with strong antiangiogenic activity that constitutes 3 % of plasma antithrombin in healthy subjects. The analysis of latent antithrombin in 141 unrelated patients with antithrombin deficiency carrying 89 different SERPINC1 mutations identified four cases with higher levels than that of controls: p.Pro439Thr, p.Pro461Ser, p.Met283Val, and p.His401Tyr, the last also with circulating polymers. Heating of plasma at 42°C exacerbated the transformation to the latent conformation in p.Pro439Thr and p.Pro461Ser. The conformational effect of p.Met283Val, the mutation associated with the highest levels of latent antithrombin detected in four members of a family, was verified in a recombinant model. Antithrombin deficiency in these cases should be classified as pleiotropic based on the impaired reactivity and low heparin affinity of the variant. Despite high levels of latent antithrombin (up to 80 μg/ml in p.Met283Val carriers), no vascular defects were described in carriers of these mutations. In conclusion, our study identifies new residues involved in the structural stability of antithrombin (and potentially of all serpins). High levels of endogenous latent antithrombin seem to play a minor antiangiogenic effect. Finally, pleiotropic deficiencies may be caused by mutations inducing transformation to the latent conformation.
    Keywords Antithrombin ; thrombosis ; gene mutations ; latent
    Language English
    Publishing date 2017-01-01
    Publisher Schattauer GmbH
    Publishing place Stuttgart ; New York
    Document type Article
    ZDB-ID 518294-3
    ISSN 2567-689X ; 0340-6245
    ISSN (online) 2567-689X
    ISSN 0340-6245
    DOI 10.1160/TH16-11-0866
    Database Thieme publisher's database

    Full text online

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    In stock of ZB MED Cologne/Königswinter

    Uh III Zs.192: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    ab Jg. 2022: Lesesaal (EG)
    Zs.MO 433: Show issues

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