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1.
Clin Nephrol Case Stud ; 12: 17-21, 2024.
Artículo en Inglés | MEDLINE | ID: mdl-38352852

RESUMEN

Waldenström's disease is a rare lymphoproliferative syndrome in the bone marrow and sometimes in lymphoid organs which secretes high amounts of monoclonal immunoglobulin M into serum. It can remain indolent for years and rarely affects the kidney, with intraglomerular rather than intratubular damage being predominant, in contrast to multiple myeloma. Different studies identified AL amyloidosis as the most frequent renal lesion, followed by cryoglobulinemic glomerulonephritis. Signs and symptoms may be unspecific, as well as renal manifestations, so collaboration between nephrologists, hematologists, and pathologists is crucial to establish the role of paraprotein in the development of renal damage. We present an atypical case of Waldenström's disease that had a minimal monoclonal peak and clinically debuted with nephritic and nephrotic syndromes. The diagnosis was cryoglobulinemic glomerulonephritis. Currently, there are numerous treatment options, without enough evidence yet to establish a standardised treatment.

2.
Clin Case Rep ; 12(1): e8449, 2024 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-38268620

RESUMEN

Biochemical evolution of serum IgG-Kappa monoclonal component during the first line with VRD (x1), DARA-VRD (x4), and the second line with ISA-KD (x4).

3.
Case Rep Oncol ; 13(2): 1026-1030, 2020.
Artículo en Inglés | MEDLINE | ID: mdl-33082743

RESUMEN

Jumping translocations are uncommon cytogenetic abnormalities in which a segment of a donor chromosome, often 1q, is transferred to two or more receptor chromosomes. We describe the case of a 64-year-old man with a history of acute myeloid leukemia associated with myelodysplastic syndrome, who presented with a relapse of the leukemia and, concomitantly, with the appearance of a jumping translocation involving chromosome 1q. The patient had a poor clinical course without the possibility of performing targeted treatment, and he died 5 months after relapse. Jumping translocations are a reflection of chromosomal instability, and they could be related to epigenetic alterations such as pericentromeric chromatin hypomethylation, telomere shortening, or pathogenic variants of the TP53 gene. The existing data suggests a poor clinical outcome, a high risk of disease progression, and an unfavorable prognosis. More molecular studies are required to gain an in-depth understanding of the genetic mechanism underlying these alterations and their clinical significance and to be able to apply an optimal treatment to patients.

4.
Prog. obstet. ginecol. (Ed. impr.) ; 61(3): 273-277, mayo-jun. 2018. ilus, tab
Artículo en Español | IBECS | ID: ibc-174966

RESUMEN

Objetivos: los linfomas no Hodgkin primarios de mama son una entidad confundible con el carcinoma de mama, por lo que es importante el diagnóstico diferencial. Presentamos 2 casos de linfoma mamario diagnosticados en nuestro centro junto con una revisión bibliográfica. Resultados: el linfoma de mama no presenta síntomas ni signos específicos y su diagnóstico es histológico. El tratamiento consiste en radioquimioterapia y fármacos biológicos. En asociación con VHC, el tratamiento de dicho virus será la base para el tratamiento del linfoma. Conclusión: el estudio del linfoma primario de mama es necesario para realizar un buen diagnóstico, así como para proporcionar a nuestras pacientes el tratamiento correcto


Objetives: Primary breast lymphoma is a disease that can be mistaken for breast carcinoma, so is important a knowledge about it in order to do a differential diagnosis. We present 2 cases of primary breast lymphoma diagnosed in our center, with a review of the literature. Results: Primary breast lymphoma don't present specific clinical findings, so diagnosis is histopatological. Treatment proposed is a combination of radio-chemotherapy and biological drugs. In association between primary breast lymphoma and HCV, treatment of HCV will be also primary breast lymphoma treatment. Conclusion: The study of primary breast lymphoma is necessary in order to do a correct diagnostic, and consequently give a good treatment


Asunto(s)
Humanos , Femenino , Persona de Mediana Edad , Linfoma de Células B de la Zona Marginal/patología , Neoplasias de la Mama/patología , Hepatitis C Crónica/complicaciones , Diagnóstico Diferencial , Linfoma no Hodgkin/patología , Hepacivirus/patogenicidad , Neoplasias de la Mama/tratamiento farmacológico , Antineoplásicos/uso terapéutico , Administración del Tratamiento Farmacológico/organización & administración
5.
Support Care Cancer ; 24(1): 93-101, 2016 Jan.
Artículo en Inglés | MEDLINE | ID: mdl-25935657

RESUMEN

PURPOSE: Use of peripherally inserted central catheters (PICCs) has markedly increased during the last decade. However, there are few studies on use of PICCs in patients with haematological malignancies (HM) receiving intensive chemotherapy. Preliminary data suggest a higher rate of PICC-related complications in these high-risk patients. This prospective observational single-centre study aimed to investigate PICC-related complications after implementation of a multidisciplinary approach to PICC care and compared it with previous literature. METHODS: A total of 44 PICCs were inserted in 36 patients (27.3%, thrombocytopenia <50 × 10(9)/L at insertion) over 5045 PICC days (median duration, 114.5 days). RESULTS: No major insertion-related complications were observed. Major late complications were obstruction in 13.6% (1.19/1000 PICC days) of patients, catheter-related bloodstream infection in 6.8% (0.59/1000 PICC days), and catheter-related thrombosis in 4.5% (0.39/1000 PICC days). Premature PICC removal occurred in 34% (2.97/1000 PICC days) of patients. The overall rate of potentially major dangerous complications was particularly low (11.36%, 0.99/1000 PICC days) compared with previous studies. CONCLUSIONS: This study highlights the utility of a multidisciplinary approach for PICC care in adults with HM receiving intensive chemotherapy. We provide further data to support use of PICCs in such patient populations.


Asunto(s)
Infecciones Relacionadas con Catéteres/etiología , Cateterismo Venoso Central/efectos adversos , Cateterismo Periférico/efectos adversos , Enfermedades Hematológicas/etiología , Trombosis/etiología , Adolescente , Adulto , Anciano , Femenino , Humanos , Masculino , Persona de Mediana Edad , Estudios Prospectivos , Factores de Riesgo , Adulto Joven
6.
Clin Case Rep ; 3(6): 392-5, 2015 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-26185635

RESUMEN

Diamond-Blackfan anemia (DBA) is a congenital erythroid aplasia usually diagnosed in the early infancy and associated with mutations or large deletions in 11 ribosomal protein (RP) genes. Adult patients with severe, transfusion dependence, aregenerative anemia might have a genetic-in-origin disease with an atypical presentation. Late onset nonclassical DBA should be ruled out and mutations of RP genes studied.

7.
Med. clín (Ed. impr.) ; 141(5): 201-204, sept. 2013.
Artículo en Español | IBECS | ID: ibc-114431

RESUMEN

Fundamento y objetivo: Analizar los episodios de anemia hemolítica autoinmune (AHAI) por anticuerpo caliente y comparar el tratamiento corticoideo con inmunoglobulinas intravenosas (IGIV) (grupo A) o sin IGIV (grupo B). Pacientes y método: Estudio observacional que incluye 21 episodios hemolíticos ocurridos en 17 pacientes (9 varones y 12 mujeres), con una mediana de edad de 59 años (extremos 26 a 82 años). En el grupo A, 8 episodios recibieron IGIV + corticosteroides, y en el grupo B, 12 episodios solo corticosteroides y uno rituximab. Resultados: La cifra de hemoglobina (Hb) al diagnóstico fue 1,8 g/dl inferior (intervalo de confianza del 95% 0,6-3,1; p = 0,007) en el grupo A, con una mediana de Hb de 6,3 g/dl en este grupo frente a 7,9 g/dl en el grupo B. Existieron diferencias no significativas en la necesidad de transfusión de hematíes (50 frente a 23%; p > 0,20) y en el incremento global del valor de la Hb (7,3 frente a 5,6 g/dl; p > 0,20). El índice global de respuestas hematológicas fue similar: 88 frente a 92% (p > 0,20). Conclusiones: El empleo de IGIV en los episodios más graves de AHAI logró una respuesta hematológica similar a la de los episodios más leves tratados sin IGIV (AU)


Background and objective: To analyze haemolytic episodes in patients with warm antibody autoimmune haemolytic anemia (AIHA) and compare corticosteroids treatment with intravenous immunoglobulins (IVIG) (group A) or without IVIG (group B). Patients and methods: Observational study that includes 21 haemolytic episodes occurred in 17 patients (9 males and 12 females), with a median age of 59 years (26-82). In group A, 8 episodes received IGIV + corticosteroids and in group B, 12 episodes received only corticosteroids and one rituximab. Results: Hemoglobin (Hb) value at diagnosis was 1.8 g/dl lower (95% confidence interval: 0.6 to 3.1; P = .007) in group A, with a median Hb of 6.3 g/dl in this group vs 7.9 g/dl in group B. There were non-significant differences in red blood cells transfusion (50 vs 23%; P > .20) and global increase of Hb values (7.3 vs 5.6; P > .20). Overall hematological responses were similar: 88 vs 92% (P > .20). Conclusions: Hematological response achieved in more severe episodes with the use of IVIG was similar to non-severe episodes treated without IVIG (AU)


Asunto(s)
Humanos , Inmunoglobulinas/administración & dosificación , Anemia Hemolítica Autoinmune/tratamiento farmacológico , Corticoesteroides/uso terapéutico , Inyecciones Intravenosas , Hemoglobina A/análisis
8.
Med Clin (Barc) ; 141(5): 201-4, 2013 Sep 07.
Artículo en Español | MEDLINE | ID: mdl-22857805

RESUMEN

BACKGROUND AND OBJECTIVE: To analyze haemolytic episodes in patients with warm antibody autoimmune haemolytic anemia (AIHA) and compare corticosteroids treatment with intravenous immunoglobulins (IVIG) (group A) or without IVIG (group B). PATIENTS AND METHODS: Observational study that includes 21 haemolytic episodes occurred in 17 patients (9 males and 12 females), with a median age of 59 years (26-82). In group A, 8 episodes received IGIV + corticosteroids and in group B, 12 episodes received only corticosteroids and one rituximab. RESULTS: Hemoglobin (Hb) value at diagnosis was 1.8 g/dl lower (95% confidence interval: 0.6 to 3.1; P = .007) in group A, with a median Hb of 6.3g/dl in this group vs 7.9 g/dl in group B. There were non-significant differences in red blood cells transfusion (50 vs 23%; P > .20) and global increase of Hb values (7.3 vs 5.6; P > .20). Overall hematological responses were similar: 88 vs 92% (P > .20). CONCLUSIONS: Hematological response achieved in more severe episodes with the use of IVIG was similar to non-severe episodes treated without IVIG.


Asunto(s)
Anemia Hemolítica Autoinmune/terapia , Inmunoglobulinas Intravenosas/uso terapéutico , Corticoesteroides/administración & dosificación , Corticoesteroides/uso terapéutico , Adulto , Anciano , Anciano de 80 o más Años , Anemia Hemolítica Autoinmune/sangre , Anemia Hemolítica Autoinmune/tratamiento farmacológico , Anticuerpos Monoclonales de Origen Murino/administración & dosificación , Anticuerpos Monoclonales de Origen Murino/uso terapéutico , Recuento de Células Sanguíneas , Transfusión Sanguínea , Terapia Combinada , Femenino , Hemoglobinas/análisis , Hemólisis , Humanos , Inmunoglobulinas Intravenosas/administración & dosificación , Masculino , Persona de Mediana Edad , Rituximab , Resultado del Tratamiento
9.
Br J Haematol ; 160(4): 510-4, 2013 Feb.
Artículo en Inglés | MEDLINE | ID: mdl-23228045

RESUMEN

The activity and safety of two-weekly dose-adjusted (DA)-EPOCH (etoposide, prednisone, vincristine, cyclophosphamide, doxorubicin)-like chemotherapy with high-dose dexamethasone plus rituximab (DA-EDOCH14-R) was explored in 20 patients with previously untreated poor prognosis diffuse large B-cell lymphoma (DLBCL). The main outcomes were compared with those of 27 poor-prognosis patients enrolled into a previous trial of 3-weekly DA-EPOCH-R. Toxicity was manageable and there were no therapy-related deaths. Three-year progression-free survival (PFS) was superior in the DA-EDOCH14-R group (95% vs. 74%, P = 0·08). Importantly, this improvement in PFS with the two-weekly DA-EDOCH14-R was particularly notable in patients with an age-adjusted International Prognostic Index of 3 (100% vs. 30%, P < 0·001).


Asunto(s)
Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Linfoma de Células B Grandes Difuso/tratamiento farmacológico , Adolescente , Adulto , Anciano , Anticuerpos Monoclonales de Origen Murino/administración & dosificación , Anticuerpos Monoclonales de Origen Murino/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Dexametasona/administración & dosificación , Dexametasona/efectos adversos , Doxorrubicina/administración & dosificación , Doxorrubicina/efectos adversos , Esquema de Medicación , Etopósido/administración & dosificación , Etopósido/efectos adversos , Femenino , Humanos , Masculino , Persona de Mediana Edad , Prednisona/administración & dosificación , Prednisona/efectos adversos , Estudios Prospectivos , Rituximab , Análisis de Supervivencia , Resultado del Tratamiento , Vincristina/administración & dosificación , Vincristina/efectos adversos , Adulto Joven
11.
Enferm Infecc Microbiol Clin ; 29(3): 232-3, 2011 Mar.
Artículo en Español | MEDLINE | ID: mdl-21324561

Asunto(s)
Bacillus cereus/aislamiento & purificación , Bacteriemia/etiología , Infecciones por Bacterias Grampositivas/complicaciones , Enfermedad de Hodgkin/complicaciones , Rabdomiólisis/etiología , Choque Séptico/etiología , Anciano , Protocolos de Quimioterapia Combinada Antineoplásica/administración & dosificación , Protocolos de Quimioterapia Combinada Antineoplásica/efectos adversos , Protocolos de Quimioterapia Combinada Antineoplásica/uso terapéutico , Bacteriemia/microbiología , Bleomicina/administración & dosificación , Bleomicina/efectos adversos , Terapia Combinada , Ciclofosfamida/administración & dosificación , Ciclofosfamida/efectos adversos , Dacarbazina/administración & dosificación , Dacarbazina/efectos adversos , Diabetes Mellitus Tipo 2/complicaciones , Susceptibilidad a Enfermedades , Doxorrubicina/administración & dosificación , Doxorrubicina/efectos adversos , Resultado Fatal , Femenino , Infecciones por Bacterias Grampositivas/diagnóstico , Infecciones por Bacterias Grampositivas/microbiología , Enfermedad de Hodgkin/tratamiento farmacológico , Enfermedad de Hodgkin/radioterapia , Humanos , Huésped Inmunocomprometido , Prednisona/administración & dosificación , Prednisona/efectos adversos , Procarbazina/administración & dosificación , Procarbazina/efectos adversos , Radioterapia Adyuvante/efectos adversos , Recurrencia , Rabdomiólisis/fisiopatología , Choque Séptico/microbiología , Vinblastina/administración & dosificación , Vinblastina/efectos adversos , Vincristina/administración & dosificación , Vincristina/efectos adversos
14.
Am J Med Genet A ; 118A(4): 372-6, 2003 May 01.
Artículo en Inglés | MEDLINE | ID: mdl-12687671

RESUMEN

Williams or Williams-Beuren syndrome (WBS) is a developmental disorder with multisystemic manifestations characterized by distinctive facial features, mental disability with unique cognitive and personality profiles, vascular stenoses, growth retardation, and occasional infantile hypercalcemia, caused by haploinsufficiency for genes deleted in chromosome band 7q11.23. However, with the exception of arterial stenoses caused by haploinsufficiency for the elastin gene (ELN), no specific implication of any other gene in the phenotype has been established. We present two patients with portal hypertension leading to splenomegaly and pancytopenia carrying the common 1.5 Mb WBS deletion. We propose this is an additional severe vascular complication of ELN deficiency and discuss the specific characteristics of the portal venous tract that could explain the impact of ELN deficiency in that venous territory. This complication is potentially lethal and should thus be considered in any patient with WBS and splenomegaly.


Asunto(s)
Cromosomas Humanos Par 7/genética , Hipertensión Portal/genética , Síndrome de Williams/genética , Adulto , Mapeo Cromosómico , Eliminación de Gen , Humanos , Hipertensión Portal/complicaciones , Masculino , Pancitopenia/complicaciones , Radiografía Abdominal , Esplenomegalia/complicaciones , Tomografía Computarizada por Rayos X , Síndrome de Williams/complicaciones
16.
Br J Haematol ; 117(3): 617-9, 2002 Jun.
Artículo en Inglés | MEDLINE | ID: mdl-12028030

RESUMEN

We present a Ph-positive chronic myeloid leukaemia patient who lost a complete cytogenetic response (CCR) of 23 months duration at the time of detection of a deletion, not previously observed, of chromosomes 9 and 22 sequences flanking the translocation breakpoint on the derivate 9 chromosome. To our knowledge, this is the first case in which a deletion at the t(9;22) breakpoint has arisen as a secondary genetic alteration produced after formation of the t(9;22) translocation. It remains to be determined whether this genetic abnormality has the same prognostic importance as when observed at diagnosis.


Asunto(s)
Deleción Cromosómica , Cromosomas Humanos Par 22/genética , Cromosomas Humanos Par 9/genética , Leucemia Mielógena Crónica BCR-ABL Positiva/genética , Translocación Genética , Antineoplásicos/uso terapéutico , Resistencia a Medicamentos , Femenino , Estudios de Seguimiento , Humanos , Hibridación Fluorescente in Situ , Interferón alfa-2 , Interferón-alfa/uso terapéutico , Leucemia Mielógena Crónica BCR-ABL Positiva/tratamiento farmacológico , Persona de Mediana Edad , Proteínas Recombinantes
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