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1.
Arq. neuropsiquiatr ; 82(3): s00441779690, 2024. tab, graf
Artículo en Inglés | LILACS-Express | LILACS | ID: biblio-1557128

RESUMEN

Abstract Background Oligoclonal bands (OCBs) and Kappa free light chains (FLCs) in the cerebrospinal fluid (CSF) are sensitive markers of intrathecal immunoglobulin (Ig)G synthesis in patients with multiple sclerosis. Objective To evaluate the concordance rate between OCBCs and the Kappa index (KI) in patients with suspected multiple sclerosis (MS). Methods Patients with suspected MS were referred to a specialized CSF laboratory as part of their diagnostic investigation. Paired CSF and serum samples were collected and submitted to detection of OCBs and determination of the KI. Positive and negative results were determined with both methods, and the percentage of agreement between them was established. Results In total, 171 serum and CSF samples from 171 patients were included in the analysis. The mean age of the patients was of 40 ± 14.2 years; 18.9% of them were male, and 81.1% were female. The OCBs and KI presented concordant results in 161 (94.2%) samples: in 74 (43.3%), both were positive, and in 87 (50.9%), both were negative. In 10 cases, the results were discrepant: KI positive/OCB negative in 8 and OCB positive/KI negative in 2 cases. Conclusion The KI and OCBs presented high concordance level. Currently, the detection of OCBs in the CSF is the standard method for MS diagnosis, but it is time-consuming, and its visual interpretation can be difficult. The results suggest that the KI is a good alternative for the detection of intrathecal immunoproduction in cases of suspected MS.


Resumo Antecedentes Bandas oligoclonais (BOCs) e cadeias leves de imunoglobulina (free light chains, FLCs, em inglês) Kappa no líquido cefalorraquidiano (LCR) são marcadores sensíveis da síntese intratecal de imunoglobulina (Ig)G em pacientes com esclerose múltipla (EM). Objetivo Avaliar a taxa de concordância entre BOCs e o índice Kappa (IK) em pacientes com suspeita de EM. Métodos Pacientes com suspeita de EM foram encaminhados a um laboratório especializado em LCR como parte de sua investigação diagnóstica. Amostras pareadas de LCR e soro foram coletadas e investigadas quanto à presença de BOCs e submetidas à determinação do IK. Resultados positivos e negativos foram determinados com ambos os métodos, e estabeleceu-se o percentual de concordância entre eles. Resultados Ao todo, 171 amostras de soro e LCR de 171 pacientes foram incluídas na análise. A média de idade dos pacientes foi de 40 ± 14,2 anos; 18,9% deles eram do sexo masculino, e 81,1%, do sexo feminino. Resultados concordantes entre as BOCs e o IK foram observados em 161 (94,2%) amostras: em 74 (43,3%), ambos foram positivos, e em 87 (50,9%), ambos foram negativos. Em 10 casos, os resultados foram discrepantes: IK positivo/BOC negativo em 8, e BOC positivo/IK negativo em 2. Conclusão Observou-se alto nível de concordância entre o IK e as BOCs. A detecção de BOCs no LCR é atualmente o método padrão para o diagnóstico de EM, mas é demorado, e sua interpretação visual pode ser difícil. Os resultados sugerem que o IK pode ser uma alternativa para a detecção de imunoprodução intratecal em casos de suspeita de EM.

2.
Ciênc. Saúde Colet. (Impr.) ; 29(5): e12882022, 2024. tab, graf
Artículo en Portugués | LILACS-Express | LILACS | ID: biblio-1557497

RESUMEN

Resumo O Projeto ArticulaFito realizou um amplo diagnóstico da base produtiva de espécies vegetais com valor medicinal, cosmético e alimentar, mapeando 26 cadeias de valor (CdV) de povos e comunidades tradicionais e de agricultores familiares (PCTAFs). O objetivo é definir critérios para priorização de ações de fortalecimento das CdV mapeadas, tendo como referência os desafios e oportunidades identificados. As metodologias de análise envoltória de dados e diagrama de Pareto foram aplicadas em dados quantitativos extraídos de cada mapa de CdV. Dessa forma, o conjunto de CdV foi dividido em quatro grupos de níveis de desempenho. Para cada grupo foi traçado um diagrama de ação que ordenou as ocorrências e suas origens, permitindo relacionar e indicar, em ordem de prioridade, as instituições e os atores a serem considerados no processo de fortalecimento. O grupo com o melhor desempenho apresentou dez espécies, sendo 70% no segmento cosmético, no bioma Amazônia e na região norte, 80% nativas sob regime de extrativismo e 20% exóticas sob regime de cultivo. O diagrama de ação gerado priorizou as ações e os investimentos, otimizando os recursos públicos aplicados para a inclusão produtiva dos PCTAFs por meio do uso sustentável da sociobiodiversidade.


Abstract The ArticulaFito Project conducted a broad analysis of the production base of plants with medicinal, cosmetic, and food value, mapping 26 value chains (CdV) of traditional peoples and communities and family farmers (PCTAFs). The objective is to define criteria to prioritize actions in order to strengthen the mapped CdV, maintaining the identified challenges and opportunities as a reference. Data Envelopment Analysis and Pareto Diagram methodologies were applied to quantitative data extracted from each CdV map. In this way, the CdV set was divided into four groups of performance levels. For each group, an action diagram was drawn, which, ordered the occurrences and their origins, enabling the reporting and indication, in order of priority, of the institutions and actors to be considered in the strengthening process. The group with the best performance had ten species, 70% in the cosmetic segment, in the Amazon biome, and in the northern region, with 80% native under an extractive regime and 20% exotic under a cultivation regime. The Action Diagram generated prioritized actions and investments, optimizing public resources in the productive inclusion of PCTAFs for the sustainable use of (socio) biodiversity.

3.
J. bras. econ. saúde (Impr.) ; 15(3): 178-189, Dezembro/2023.
Artículo en Inglés, Portugués | LILACS, ECOS | ID: biblio-1553989

RESUMEN

Objetivo: Desenvolver uma análise de custo-utilidade da implementação do teste farmacogenético como uma ferramenta adicional para orientar a escolha do melhor tratamento medicamentoso para indivíduos com depressão. Métodos: Para a realização desta análise, criou-se um modelo analítico de decisão baseado em um modelo de Markov. A avaliação foi realizada sob a perspectiva do Sistema de Saúde Suplementar brasileiro, com horizonte temporal de 10 anos, incluindo custos médicos diretos e custos da tecnologia utilizada, além de ter como comparador o tratamento empírico tradicional para a depressão. As probabilidades de transição foram obtidas por meio de análise da literatura disponível. Também foram realizadas análises de sensibilidade probabilística e univariada. Adicionalmente, foi realizada uma avaliação sob a perspectiva da sociedade, incluindo os custos de tratamento medicamentoso realizados pelos pacientes. Resultados: De acordo com a análise realizada, o emprego do teste farmacogenético como guia do tratamento para depressão mostrou-se favorável, proporcionando economia de -R$ 3.439,97 por paciente e aumento de 0,39 QALY ao longo do horizonte temporal. Assim, evidencia-se uma economia significativa a favor do teste farmacogenético, correspondendo a -R$ 8.776,78 por QALY salvo. Além disso, a robustez do modelo foi comprovada por meio das análises de sensibilidade. No cenário sob perspectiva da sociedade, o resultado foi ainda mais favorável, proporcionando economia de -R$ 9.381,49 por paciente e aumento de 0,39 QALY, correspondendo a -R$ 23.936,05 por QALY salvo. Conclusão: Os resultados encontrados neste estudo demonstraram que o uso de testes farmacogenéticos no tratamento da depressão é economicamente vantajoso, com aumento no valor de QALY e redução nos custos médicos diretos, em comparação ao tratamento empírico tradicional. Essa descoberta alinha-se à tendência atual de personalização no cuidado da saúde mental, sugerindo implicações práticas na reavaliação de protocolos, com potencial incorporação dos testes farmacogenéticos como padrão de cuidado.


Objective: To evaluate the cost-utility of pharmacogenetic testing incorporation as an additional tool in guiding the selection of optimal drug treatments for individuals with depression. Methods: A decision analytical model was created based on the Markov model for this analysis. The evaluation was conducted from the perspective of the Brazilian Supplementary Health System, with a time horizon of 10 years. The study included direct medical and technology costs and a comparison with traditional empirical treatment for depression was performed. Transition probabilities were derived from an analysis of available literature. Probabilistic and univariate sensitivity analyses were also carried out. Additionally, an evaluation was conducted from the perspective of Society, including the costs of drug treatment carried out by patients. Results: The application of pharmacogenetic testing as a guide for depression treatment demonstrated favorable outcomes, yielding savings of -R$ 3,439.97 per patient and an increase of 0.39 QALY over the specified time frame. Thus, significant savings were evident, corresponding to -R$ 8,776.78 per QALY saved. The sensitivity analyses confirmed the model's robustness. In the Society's perspective scenario, the outcome was even more favorable, resulting in savings of -R$ 9,381.49 per patient and a 0.39 increase in QALYs, equivalent to -R$ 23,936.05 per QALY saved. Conclusion: The study findings reveal that incorporating harmacogenetic tests in depression treatment offers economic benefits, evidenced by an increase in QALY value and a decrease in direct medical costs compared to conventional empirical treatment. This aligns with the ongoing trend towards personalized mental health care, implying practical considerations for protocol reassessment and the possible integration of pharmacogenetic tests as a standard of care.


Asunto(s)
Cadenas de Markov , Análisis Costo-Beneficio , Pruebas de Farmacogenómica , Análisis de Costo-Efectividad
4.
Rev. Hosp. Ital. B. Aires (En línea) ; 43(4): 214-218, dic. 2023.
Artículo en Español | LILACS, UNISALUD, BINACIS | ID: biblio-1537605

RESUMEN

La amiloidosis AL es una enfermedad debida al depósito, en órganos y tejidos, de fibrillas formadas por cadenas livianas producidas de forma patológica por plasmocitos clonales. Su tratamiento actualmente está orientado a erradicar el clon de células plasmáticas; este históricamente se extrapoló de tratamientos disponibles y estudiados para otras discrasias sanguíneas. En el año 2020, el Grupo de Estudio de Amiloidosis (GEA) confeccionó distintas guías de práctica clínica para el tratamiento de la amiloidosis AL. Desde entonces se han publicado ensayos clínicos que arrojan contundencia al conocimiento disponible hasta el momento, y están en desarrollo nuevas líneas de investigación que robustecen y estimulan el estudio en el área. En esta revisión se realiza una actualización de las guías existentes en lo que respecta al tratamiento de la amiloidosis por cadenas livianas.Como evidencia de relevancia, en el último año estuvieron disponibles resultados de ensayos clínicos que respaldan el uso de esquemas basados en daratumumab (un anticuerpo monoclonal anti-CD38+) para pacientes con diagnóstico reciente de amiloidosis AL como primera línea. Además, para el tratamiento de la amiloidosis AL refractaria o recaída, la disponibilidad de bibliografía respaldatoria es escasa y extrapolada del tratamiento del mieloma múltiple; sin embargo, actualmente existe evidencia de calidad para recomendar el uso de ixazomib, un inhibidor de proteosoma reversible por vía oral disponible en la Argentina desde 2020. Por último, se mencionan algunas líneas de investigación con otros anticuerpos monoclonales y terapéuticas basadas en el uso de CAR-T cells. (AU)


AL amyloidosis is a disease caused by the deposit in different organs and tissues of protein fibrils formed by light chains synthetized by pathological clonal plasma cells. Its treatment is currently aimed at eradicating this plasma cell clone and it has been historically extrapolated from available and validated treatments for other blood dyscrasias. In 2020, the Amyloidosis Study Group prepared different clinical practice guidelines for the treatment of AL amyloidosis.Since then, clinical trials have been published that confirm and strengthen the knowledge available up to now, and new lines of research are being developed that stimulate study in the area. In this review, an update of the existing guidelines regarding the treatment of AL amyloidosis is made. As relevant evidence, in the last year, results of clinical trials have been made available that support the use of regimens based on Daratumumab (an anti-CD38+ monoclonal antibody) for patients with newly diagnosed AL amyloidosis as first line therapy. In addition, for the treatment of refractory or relapsed AL amyloidosis, where the availability of supporting literature is scant and extrapolated from the treatment of multiple myeloma, there is currently quality evidence to recommend the use of ixazomib, an oral reversible proteasome inhibitor, only available in Argentina since 2020. Finally, some research lines exploring the efficacy of other monoclonal antibodies and therapeutic experiments based on the use of CAR-T cells are mentioned. (AU)


Asunto(s)
Humanos , Antígeno de Maduración de Linfocitos B/uso terapéutico , Amiloidosis de Cadenas Ligeras de las Inmunoglobulinas/tratamiento farmacológico , Anticuerpos Monoclonales/uso terapéutico , Antineoplásicos/uso terapéutico , Recurrencia , Guías de Práctica Clínica como Asunto , Trasplante de Células Madre Hematopoyéticas
5.
Rev. colomb. cardiol ; 30(1): 45-56, ene.-feb. 2023. tab, graf
Artículo en Español | LILACS-Express | LILACS | ID: biblio-1423825

RESUMEN

Resumen La amiloidosis primaria o de cadenas livianas (AL) es la forma más común de amiloidosis y se caracteriza por presentar una población clonal de células plasmáticas que producen una cadena ligera monoclonal de tipo lambda o kappa. En algunos sujetos, dicha cadena se deposita en forma de amiloide en los órganos y tejidos, dando lugar a manifestaciones clínicas, como proteinuria o síndrome nefrótico, miocardiopatía restrictiva y hepatomegalia. Aunque se considera una enfermedad rara, datos recientes sugieren que la amiloidosis cardíaca se subestima como una causa de enfermedades o síndromes cardíacos comunes. En la amiloidosis AL, tanto la respuesta hematológica como la de los órganos después del tratamiento son importantes para mejorar el resultado clínico, especialmente, si mejora la función cardíaca que es uno de los aspectos clave en el pronóstico de la amiloidosis AL. Se presenta el caso y la revisión de un paciente de sexo femenino, de 67 años de edad, que en la pesquisa diagnóstica de anemia e insuficiencia cardiaca (IC) se concluye en el diagnóstico de mieloma múltiple y amiloidosis cardiaca (AC) por depósito de cadenas livianas.


Abstract Primary or light chain (AL) amyloidosis is the most common form of amyloidosis and is characterized by a clonal population of plasma cells that produce a monoclonal lambda or kappa-type light chain, which in some subjects this chain is deposited as amyloid in the organs and tissues, giving rise to clinical manifestations such as proteinuria or nephrotic syndrome, restrictive cardiomyopathy and hepatomegaly. Although considered a rare disease, recent data suggest cardiac amyloidosis is underestimated as cause of common heart diseases or syndromes. In AL amyloidosis, both the hematologic and organ response after treatment, are important to improve clinical outcome. Especially if it improves cardiac function is one of the key aspects in the prognosis of AL amyloidosis. We present the case and review of a 67-year-old female patient, who in the investigation diagnoses anemia and heart failure concludes in the diagnosis of multiple myeloma and cardiac amyloidosis due to light chain deposition.

7.
Gac. méd. espirit ; 24(1): [10], abr. 2022.
Artículo en Español | LILACS | ID: biblio-1404891

RESUMEN

RESUMEN Fundamento: La electroforesis de proteínas y las cadenas ligeras libres en suero son técnicas utilizadas en el diagnóstico del mieloma múltiple. Sin embargo, la utilidad diagnóstica de ambas pruebas puede variar según el método empleado y condiciones reales del medio donde se realicen. Objetivo: Determinar el valor diagnóstico de la electroforesis de proteínas y de las cadenas ligeras libres en suero en el mieloma múltiple. Metodología: Se realizó un estudio retrospectivo de los parámetros electroforesis de proteínas en suero y cadenas ligeras libres en suero a 43 pacientes con diagnóstico de mieloma múltiple por evaluación de la médula ósea. La electroforesis de proteínas se realizó por el método convencional de separación de proteínas sobre papel de acetato de celulosa y para las cadenas ligeras libres se aplicó un ensayo inmunoturbidimétrico en el que se usó un analizador químico (Cobas 311). Se calcularon 7 parámetros que evaluaron la exactitud diagnóstica. Resultados: Todos los parámetros que evaluaron la exactitud diagnóstica estuvieron dentro de los intervalos de confianza en ambas pruebas. Conclusiones: La electroforesis de proteínas y las cadenas ligeras libres en suero son ensayos de gran utilidad en el diagnóstico del mieloma múltiple y se deben utilizar en conjunto para la mayor captación posible de casos.


ABSTRACT Background: Protein electrophoresis and serum free light chains are techniques used in the diagnosis of multiple myeloma. However, the diagnostic utility of both tests may vary according to the method used and the actual conditions of the environment where they are performed. Objective: To determine the diagnostic value of protein electrophoresis and serum free light chains in multiple myeloma. Methodology: A retrospective study of serum protein electrophoresis parameters and serum free light chains was conducted in 43 patients diagnosed with multiple myeloma by bone marrow evaluation. Protein electrophoresis was completed by the conventional method of protein separation on cellulose acetate paper and for free light chains an immunoturbidimetric assay was applied in which a chemical analyzer (Cobas 311) was used. Seven parameters were calculated to evaluate diagnostic accuracy. Results: All parameters assessing diagnostic accuracy were within confidence intervals in both tests. Conclusions: Protein electrophoresis and serum free light chains are very useful assays in the diagnosis of multiple myeloma and should be used in conjunction for the highest possible approval of cases.


Asunto(s)
Electroforesis de las Proteínas Sanguíneas , Cadenas kappa de Inmunoglobulina , Electroforesis en Acetato de Celulosa , Exactitud de los Datos , Mieloma Múltiple/diagnóstico
8.
Indian J Pathol Microbiol ; 2022 Mar; 65(1): 59-64
Artículo | IMSEAR | ID: sea-223172

RESUMEN

Background: The spectrum of kidney diseases varies in the elderly population with frequent inconsistencies between clinical presentation and histopathological diagnosis. The immunofluorescence (IF) may provide additional information in such situations. Aims: The purpose was to study the spectrum of kidney diseases in patients above 50 years undergoing renal biopsy and utility of light chain (LC) IF in the diagnosis. Settings and Design: This was a retrospective, crosssectional, singlecenter-based study. Material and Methods: The clinical details, histopathological findings, and LC IF pattern in native renal biopsy of patients above 50 years were noted. Statistical Analysis: Continuous variables were presented as mean ± standard deviation (SD). Categorical variables were expressed as frequencies and percentages. Results: A total of 205 patients were included in the study. The most common clinical presentation was acute kidney injury/rapidly progressive glomerulonephritis (AKI/RPGN) (49%). Glomerular diseases (72%) were more common. Crescentic glomerulonephritis (21%) and membranous nephropathy (MN) (19%) were the most common glomerulopathy. LC restriction was observed in LC cast nephropathy (LCCN), primary amyloidosis, and LC also helped in classifying the cases of MPGN-type morphology. Conclusions: AKI/RPGN was the most common indication for renal biopsy in patients above 50 years. Crescentic GN and MN were the frequent glomerular pathology. LC IF is a useful adjunctive tool to classify various renal diseases.

9.
Artículo | IMSEAR | ID: sea-219911

RESUMEN

Background: The large percentage of research in this area focuses on the triple-bottom line of sustainability, which entails understanding the economic, social, and environmental outcomes of supply chain process. A few sustainability measures have been proposed in the literature to recognize supply chain sustainability, assisting interested parties in making strategic decisions. Researchers and practitioners alike have become more aware of and interested in sustainable supply chain management. The majority of these studies, however, focus on supply chains in wealthy countries, with little research on sustainable supply chains in poor countries. Existing research focuses solely on the triple bottom line approach to supply chain sustainability, and more study is needed to identify and quantify additional components of supply chain sustainability. Although the lack of empirical evidence in the current conceptual study, it intends to propose this index to improve the evaluation and health coverage of public health supply chains. It will serve as a starting point for more study and will allow for actual testing of the index in public health supply chains.

10.
Acta bioquím. clín. latinoam ; 56(1): 3-9, ene. 2022. graf
Artículo en Español | LILACS, BINACIS | ID: biblio-1402941

RESUMEN

Resumen El método de referencia para el estudio bioquímico de la esclerosis múltiple (EM) es el isoelectroenfoque (IEE) y la evaluación de las cadenas livianas libres (CLL) podría brindar una información adicional de relevancia. Por lo tanto, se propone evaluar la presencia de las CLL y la aplicabilidad de los estados de polimerización en el estudio de la EM. Se puso a punto un método compuesto por una separación electroforética en gel de poliacrilamida al 12,5% con posterior electrotransferencia (PAGE-WB) y se realizó la evaluación de 121 pacientes con sospecha de EM en simultáneo al IEE. Los patrones de PAGE-WB relacionados con la EM fueron el aumento de la concentración de monómeros Kappa o dímeros Lambda en líquido cefalorraquídeo (LCR) en comparación con el suero. Este método tuvo una muy alta significación de asociación con el IEE (p<0,0001) con sensibilidad del 95%, especificidad del 90%, VPP 83% y VPN 97%. La síntesis intratecal de CLL quedó evidenciada por el aumento de intensidad del monómero Kappa y/o el dímero Lambda observado en LCR. La técnica de PAGE-WB para CLL demostró ser un método alternativo para detectar la síntesis intratecal en pacientes con sospecha de EM.


Abstract The reference method for the biochemical study of multiple sclerosis (MS) is isoelectric focusing (IEF) and the evaluation of free light chains (FLC) could provide additional information of relevance. Therefore, it is proposed here to evaluate the presence of FLC and the applicability of the polymerisation states in the study of MS. A method consisting of a 12.5% polyacrylamide gel electrophoretic separation with a subsequent electrotransfer (PAGE-WB) was developed and the evaluation of 121 patients with suspected MS was carried out simultaneously with the IEF. MS-related PAGE-WB patterns were the increase in the concentration of Kappa monomers or Lambda dimers in CSF compared to serum. This method had a very high significance of association with the IEF (p<0.0001) with 95% sensitivity, 90% specificity, 83% PPV and 97% NPV. Intrathecal synthesis of FLC was evidenced by the increased intensity of the Kappa monomers and/or Lambda dimers observed in CSF. The PAGE-WB technique for FLC proved to be an alternative method to detect intrathecal synthesis in patients with suspected MS.


Resumo O método de referência para o estudo bioquímico da esclerose múltipla (EM) é a focalização isoelétrica (IEE) e a avaliação de cadeias leves livres (CLL) poderiam fornecer informações adicionais de relevância. Assim, propõe-se avaliar a presença das CLL e a aplicabilidade dos estados de polimerização no estudo de EM. Foi desenvolvido um método que consiste na separação eletroforética em gel de poliacrilamida a 12,5% com posterior eletrotranferência (PAGE-WB) e a avaliação de 121 pacientes com suspeita de EM foi realizada paralelamente à IEE. Os padrões de PAGE-WB relacionados com a EM foram o aumento na concentração de monômeros Kappa ou dímeros Lambda em líquido cefalorraquidiano (LCR) em comparação com o soro. Este método teve uma associação de significância muito alta com o IEE (p<0,0001) com sensibilidade de 95%, especificidade de 90%, VPP 83% e VPN 97%. A síntese intratecal de CLL foi evidenciada pelo aumento de intensidade do monômero Kappa e/ou dímero Lambda observado em LCR. A técnica PAGE-WB para CLL mostrou-se um método alternativo para detectar a síntese intratecal em pacientes com suspeita de EM.


Asunto(s)
Bandas Oligoclonales , Esclerosis Múltiple , Estándares de Referencia , Derivación y Consulta , Asociación , Líquido Cefalorraquídeo , Sensibilidad y Especificidad , Suero , Polimerizacion , Focalización Isoeléctrica
11.
Chinese Journal of Nuclear Medicine and Molecular Imaging ; (6): 243-247, 2022.
Artículo en Chino | WPRIM | ID: wpr-932922

RESUMEN

Systematic light chain (AL) amyloidosis is the most common forms of amyloidosis, which manifests as multiple organ system involvement, rapid progress, dire prognosis, difficult therapy and high mortality. Many patients may miss the optimal treatment as a result of not being diagnosed timely. Therefore, early diagnosis and assessment of involved extent of AL are clinical focuses. Related clinical studies have demonstrated that nuclear medicine imaging can be non-invasive in detecting amyloid deposits. It can not only early assess the extent and distribution of amyloid deposits in systemic AL amyloidosis, but also offer the indications for risk stratification, treatment response monitoring and prognosis assessment of the patients, especially for positron amyloidosis-specific tracers, which may have great prospects in the future. This review summarizes the application of nuclear medicine imaging in the systematic AL amyloidosis.

12.
Chinese Journal of Perinatal Medicine ; (12): 620-625, 2022.
Artículo en Chino | WPRIM | ID: wpr-958120

RESUMEN

Objective:To investigate the clinical features and genetic mutations of microvillus inclusion disease (MVID).Methods:Clinical features and gene sequencing results of a neonate with MVID in Children's Hospital of Chongqing Medical University in August 2019 were retrospectively analyzed. Literature was retrieved up to October 2021, with the terms of microvillus inclusion disease, congenital microvilli atrophy, MVID, MYO5B, STX3, and STXBP2 in China National Knowledge Infrastructure, Wanfang Database, VIP database, and PubMed. Clinical features, diagnosis, and treatment of the reported MVID cases were reviewed. Results:(1) Case report: A male infant presented with jaundice two days after birth and was admitted to our hospital. Clinical features included intractable diarrhea, intermittent abdominal distension, uncorrectable dehydration, and weight loss. Laboratory test results indicated metabolic acidosis, electrolyte disorder, and cholestasis. Whole exome sequencing confirmed the diagnosis of MVID in this baby boy with compound heterozygous mutations of c.1021C>T(p.Q341*) and c.1125G>A(p.W375*) in the MYO5B gene, which were inherited from the father and the mother, respectively. (2) Literature review: Except for the present case, 31 patients from 20 articles were reviewed, and the typical clinical manifestations were intractable diarrhea, accompanied by dehydration, metabolic acidosis, electrolyte disorder, etc. Some patients also developed extra-gastrointestinal symptoms, including feeding difficulties and malnutrition (8/18), respiratory distress syndrome (4/18) and jaundice/cholestasis (4/18) in patients with MYO5B mutations; feeding difficulties and malnutrition (2/5), respiratory distress syndrome (1/5), and sepsis (1/5) in patients with STX3 mutations; feeding difficulties (2/9), respiratory distress syndrome (1/9), jaundice/cholestasis (1/9), sepsis (1/9), and hypoglycemia (1/9) in patients with STXBP2 mutations. In terms of the demographic data and prenatal examination, preterm birth (8/18), fetal bowel dilatation (5/18), polyhydramnios (5/18), parental consanguinity (2/18), and meconium-stained amniotic fluid (2/18) occurred among patients with MYO5B mutations. In those with STX3 mutations, parental consanguinity (3/5), fetal bowel dilatation (1/5), polyhydramnios (1/5), and meconium-stained amniotic fluid (1/5) occurred. Of nine patients with STXBP2 mutations, parental consanguinity (3/9), preterm birth (2/9), and polyhydramnios (2/9) occurred. Conclusions:MVID has atypical clinical features and a high mortality, resulting in difficulty in the diagnosis and treatment. The possibility of MVID should be considered when an infant presents with intractable diarrhea, dehydration, metabolic acidosis, and electrolyte disorder accompanied by multiple extra-gastrointestinal symptoms. Early identification of MYO5B, STX3, and STXBP2 mutations will benefit prompt intervention, prognosis evaluation, and genetic counseling.

13.
Chinese Journal of Postgraduates of Medicine ; (36): 1026-1030, 2022.
Artículo en Chino | WPRIM | ID: wpr-955444

RESUMEN

Objective:To explore the correlation between the level of serum free light chain and renal function indexes in patients with diabetic kidney disease (DKD).Methods:The clinical data of 120 patients with DKD (study group) and 80 patients with simple diabetes (diabetes group) in the Beijing Sixth Hospital from October 2017 to October 2020 were retrospectively analyzed. Five ml of fasting peripheral venous blood were collected, the levels of serum uric acid, creatinine, homocysteine (Hcy) and free light chain (including free light chain κ, free light chain λ, ratio of free light chain κ and free light chain λ and total free light chain) were detected, and the estimated glomerular filtration rate (eGFR) was calculated. The correlation between total free light chain and renal function indexes in patients with DKD was analysis by Pearson method.Results:The free light chain κ, free light chain λ, ratio of free light chain κ and free light chain λ, total free light chain, uric acid, creatinine and Hcy in DKD group were significantly higher than those in diabetes group: (33.92 ± 9.06) mg/L vs. (17.65 ± 4.72) mg/L, (17.52 ± 2.83) mg/L vs. (9.81 ± 3.20) mg/L, 1.93 ± 0.23 vs. 1.80 ± 0.25, (51.44 ± 12.31) mg/L vs. (27.46 ± 7.92) mg/L, (383.69 ± 96.11) μmol/L vs. (345.93 ± 93.94) μmol/L, (117.57 ± 22.39) μmol/L vs. (75.06 ± 14.73) μmol/L and (17.64 ± 5.76) μmol/L vs. (11.66 ± 5.46) μmol/L, the eGFR was significantly lower than that in diabetes group: (103.95 ± 22.58) ml/(min·1.73 m 2) vs. (142.65 ± 26.50) ml/(min·1.73 m 2), and there were statistical differences ( P<0.01). Pearson correlation analysis results showed that serum total free light chain in patients with DKD was positively correlated with uric acid, creatinine and Hcy ( r = 0.707, 0.709 and 0.820; P<0.01), and negatively correlated with eGFR ( r = -0.730, P<0.01). Conclusions:The expression level of serum free light chain is obviously increased in patients with DKD, it has a certain correlation with renal function indexes. It can be used as one of the evaluation indicators for disease monitoring.

14.
International Journal of Traditional Chinese Medicine ; (6): 1395-1401, 2022.
Artículo en Chino | WPRIM | ID: wpr-954482

RESUMEN

Objective:To observe the effect of astragaloside Ⅳ on lysophosphatidic acid(LPA)- induced neurite retraction of N1E-115 cells and its potential mechanism.Methods:N1E-115 cells were divided into blank group, model group, the low, medium and high dose groups of astragaloside Ⅳ. The blank group and model group was not intervened by astragaloside; while the low, medium and high dose groups were treated with 20,40 and 80 μg/ml astragaloside Ⅳ for 24 h. Each group was cultured with serum-free medium for 12 h. The model group and astragaloside Ⅳ groups were intervened by 40 μmol/L LPA for 10 min. Each group was observed and photographed with the inverted microscope, and the number of neurites in N1E-115 cells was counted by Image J software. The fluorescence expression of recombinant ras homolog gene family member A (RhoA), rho associated coiledcoil protein kinase 2 (ROCK2), phospho-rho associated coiledcoil protein kinase 2 (p-ROCK2) and phospho-myosin light chain 2 (p-MLC2) proteins was detected by immunohistochemistry. Real-time fluorescent quantitative polymerase chain reaction was used to detect the mRNA expression levels of RhoA and ROCK2 ; the protein expression levels of RhoA, ROCK2, p-MLC2 and myosin light chain 2 (MLC2) were detected by Western blotting.Results:Compared with 20 μg/ml astragaloside Ⅳ group, the inhibition rate of neurite retraction in 40 and 80 μg/ml astragalosideⅣ groups increased ( P<0.05). Compared with model group, the average fluorescence intensity of RhoA, p-ROCK2, p-MLC2 in 20, 40, 80 μg/ml astragaloside Ⅳ groups and the ROCK2 average fluorescence intensity in 40 μg/ml astragaloside Ⅳ group were decreased ( P<0.05, P<0.01); the expression of RhoA mRNA (0.89±0.09, 0.41±0.01, 0.09±0.03 vs. 1.50±0.01) and ROCK2 mRNA (0.89±0.09, 0.14±0.01, 0.20±0.01 vs. 1.62±0.17) decreased in 20, 40, 80 μg/ml astragaloside Ⅳ groups ( P<0.05, P<0.01); the ROCK2 protein (0.75±0.06, 0.57±0.02, 0.66±0.01 vs. 1.08±0.02), p-MLC2 protein (1.72±0.03, 1.40±0.04, 1.29±0.03 vs. 2.19±0.11), MLC2 protein (1.13±0.02, 0.68±0.03, 0.75±0.03 vs. 1.60±0.03) in 20, 40, 80 μg/ml astragaloside Ⅳ groups and the RhoA protein (0.35±0.01, 0.40±0.03 vs. 0.57±0.08) in 20, 40 μg/ml astragaloside Ⅳ groups were decreased ( P<0.05, P<0.01). Conclusion:Astragaloside Ⅳ can prevent LPA-induced neurite retraction and promote damaged nerve regeneration. The mechanism may down-regulae the protein expression levels of RhoA, ROCK2, p-ROCK2, p-MLC2 and MLC2 in RhoA-ROCK2 signaling pathway, and inhibite nerve growth cone collapse.

15.
Journal of Leukemia & Lymphoma ; (12): 484-487, 2022.
Artículo en Chino | WPRIM | ID: wpr-953990

RESUMEN

Objective:To investigate the clinical characteristics and prognosis of IL3-IGH fusion gene-positive pediatric acute lymphoblastic leukemia (ALL) with hypereosinophilia as the first presentation.Methods:The clinical data of 1 pediatric IL3-IGH fusion gene-positive ALL patient with hypereosinophilia as the first presentation in January 2021 in Fujian Medical University Union Hospital was retrospectively analyzed and relevant literature was reviewed.Results:This 11-year-old male patient underwent bone marrow examination, and results showed that the proportion of eosinophils was increased; immunophenotyping disclosed that there were about 49.4% abnormal naive B lymphocytes in bone marrow; 43 leukemia fusion genes showed all negative; the whole transcriptome sequencing showed IL3-IGH fusion gene-positive. The patient was finally diagnosed as B-ALL with IL3-IGH fusion gene. According to the Chinese Children Cancer Group (CCCG)-ALL 2020 regimen, eosinophils returned to normal after induction therapy. Bone marrow examination on day 19 of induction showed that the proportion of promyelocytes was 0.005, the proportion of eosinophils was 0.05, and the minimal residual disease (MRD) was 23.02%. Bone marrow examination on day 46 of induction showed remission, and MRD was 0.18%. Consolidation chemotherapy used CAT (cyclophosphamide 1 g/m 2 once; cytarabine 50 mg/m 2, 12 h once, 7 days in total; mercaptopurine 40 mg/m 2, once per night, 7 days in total) regimen. Then the patient was added with lusotinib (75 mg 12 h once) orally and continued to receive high-dose methotrexate (5 g/m 2) regimen chemotherapy for 2 courses, the MRD was 0.20%. Chimeric antigen receptor T-cell (CAR-T) regimen was administered, followed by negative MRD. Conclusions:IL3-IGH fusion gene ALL is more frequently found in males, and more common in older children and young adults. It is prone to organ infiltration damage, and it has a high rate of induction failure and recurrence as well as poor prognosis.

16.
Arq. bras. cardiol ; 118(2): 422-432, 2022. tab, graf
Artículo en Inglés, Portugués | LILACS | ID: biblio-1364337

RESUMEN

Resumo Fundamento Amiloidose sistêmica é uma doença com manifestações clínicas diversas. O diagnóstico envolve suspeita clínica, aliada a métodos complementares. Objetivo Descrever o perfil clínico, laboratorial, eletrocardiográfico e de imagem no acometimento cardíaco da amiloidose sistêmica. Métodos Estudo de uma amostra de conveniência, analisando dados clínicos, laboratoriais, eletrocardiográficos, ecocardiográficos, medicina nuclear e ressonância magnética. Considerou-se significância estatística quando p < 0,05. Resultados Avaliaram-se 105 pacientes (com mediana de idade de 66 anos), sendo 62 homens, dos quais 83 indivíduos apresentavam amiloidose por transtirretina (ATTR) e 22 amiloidose por cadeia leve (AL). Na ATTR, 68,7% eram de caráter hereditário (ATTRh) e 31,3% do tipo selvagem (ATTRw). As mutações mais prevalentes foram Val142Ile (45,6%) e Val50Met (40,3%). O tempo de início dos sintomas ao diagnóstico foi 0,54 e 2,15 anos nas formas AL e ATTR (p < 0,001), respectivamente. O acometimento cardíaco foi observado em 77,9% dos ATTR e 90,9% dos AL. Observaram-se alterações de condução atrioventricular em 20% e intraventricular em 27,6% dos pacientes, sendo 33,7 % na ATTR e 4,5% das AL (p = 0,006). A forma ATTRw apresentou mais arritmias atriais que os ATTRh (61,5% x 22,8%; p = 0,001). Ao ecocardiograma a mediana da espessura do septo na ATTRw x ATTRh x AL foi de 15 mm x 12 mm x 11 mm (p = 0,193). Observou-se BNP elevado em 89,5% dos indivíduos (mediana 249 ng/mL, IQR 597,7) e elevação da troponina em 43,2%. Conclusão Foi possível caracterizar, em nosso meio, o acometimento cardíaco na amiloidose sistêmica, em seus diferentes subtipos, através da história clínica e dos métodos diagnósticos descritos.


Abstract Background Systemic amyloidosis is a disease with heterogeneous clinical manifestations. Diagnosis depends on clinical suspicion combined with specific complementary methods. Objective To describe the clinical, laboratory, electrocardiographic, and imaging profile in patients with systemic amyloidosis with cardiac involvement. Methods This study was conducted with a convenience sample, analyzing clinical, laboratory, electrocardiographic, echocardiographic, nuclear medicine, and magnetic resonance data. Statistical significance was set at p < 0.05. Results A total of 105 patients were evaluated (median age of 66 years), 62 of whom were male. Of all patients, 83 had transthyretin (ATTR) amyloidosis, and 22 had light chain (AL) amyloidosis. With respect to ATTR cases, 68.7% were the hereditary form (ATTRh), and 31.3% were wild type (ATTRw). The most prevalent mutations were Val142Ile (45.6%) and Val50Met (40.3%). Time from onset of symptoms to diagnosis was 0.54 and 2.15 years, in the AL and ATTR forms, respectively (p < 0.001). Cardiac involvement was observed in 77.9% of patients with ATTR and in 90.9% of those with AL. Alterations were observed in atrioventricular and intraventricular conduction in 20% and 27.6% of patients, respectively, with 33.7% in ATTR and 4.5% in AL (p = 0.006). In the ATTRw form, there were more atrial arrhythmias than in ATTRh (61.5% versus 22.8%; p = 0.001). On echocardiogram, median septum thickness in ATTRw, ATTRh, and AL was 15 mm, 12 mm, and 11 mm, respectively (p = 0.193). Elevated BNP was observed in 89.5% of patients (median 249, ICR 597.7), and elevated troponin was observed in 43.2%. Conclusion In this setting, it was possible to characterize cardiac involvement in systemic amyloidosis in its different subtypes by means of clinical history and the diagnostic methods described.


Asunto(s)
Humanos , Masculino , Femenino , Adulto , Cardiología , Neuropatías Amiloides Familiares/diagnóstico por imagen , Amiloidosis/diagnóstico por imagen , Cardiomiopatías/diagnóstico por imagen , Derivación y Consulta , Brasil , Prealbúmina/genética , Ecocardiografía
17.
Rev. bras. estud. popul ; 39: e0192, 2022. tab
Artículo en Portugués | LILACS | ID: biblio-1365650

RESUMEN

O presente estudo busca identificar o impacto da estrutura familiar (biparentais e uniparentais) sobre a dinâmica educacional intergeracional e a acumulação de capital humano. Foram utilizados os microdados da Pesquisa Nacional por Amostra de Domicílio (PNAD) de 2014. A dinâmica educacional intergeracional foi analisada a partir de matrizes de transição e de processos de Markov. As diferenças de acumulação de capital humano entre as categorias de estruturas familiares foram investigadas a partir da decomposição de Blinder-Oaxaca. Os resultados indicam que ser dependente, do sexo feminino e residir na zona urbana são características associadas a uma maior mobilidade intergeracional de educação. O Nordeste se destaca como a região com menor mobilidade intergeracional educacional. A decomposição de Blinder-Oaxaca indica que, em média, as famílias uniparentais chefiadas por uma mulher possuem 0,5 ano de estudo a mais do que as uniparentais chefiadas pelo pai. Cerca de 74,2% dessa diferença é explicada pelo modelo estimado e a parte não explicada não possui significância estatística. Os resultados sugerem que a estrutura familiar afeta a dinâmica intergeracional de educação e a acumulação de capital humano dos indivíduos.


Objective. The present study seeks to identify the impact of the family structure (two-parent and one-parent) on the intergenerational educational dynamics and the accumulation of human capital. Method. The microdata from the National Household Sampling Survey (PNAD) of 2014 were used. The intergenerational educational dynamics was analyzed based on transition matrices and Markov processes. Differences in human capital accumulation between categories of family structures were investigated based on the Blinder-Oaxaca decomposition. Results. Results indicate that being dependent, female and living in the urban area are characteristics associated with greater intergenerational education mobility. The Northeast region stands out as the region with the lowest educational intergenerational mobility. The decomposition of Blinder-Oaxaca indicates that, on average, single-parent families headed by a woman have 0.5 years of study more than single-parent families headed by a father. About 74.2% of this difference is explained by the estimated model and the unexplained part has no statistical significance. Conclusion. Results suggest that the family structure affects the intergenerational dynamics of education and the accumulation of human capital of individuals.


Objetivo. El presente estudio busca identificar el impacto de la estructura familiar (biparental y monoparental) sobre la dinámica educativa intergeneracional y la acumulación de capital humano. Método. Se utilizaron los microdatos de la Encuesta Nacional de Muestreo de Hogares (PNAD) de 2014. Se analizó la dinámica educativa intergeneracional a partir de matrices de transición y procesos de Markov. Las diferencias en la acumulación de capital humano entre categorías de estructuras familiares se investigaron con base en la descomposición Blinder-Oaxaca. Resultados. Los resultados indican que ser dependiente, ser mujer y vivir en el área urbana son características asociadas a una mayor movilidad educativa intergeneracional. La nordestina se destaca como la región con menor movilidad educativa intergeneracional. La descomposición de Blinder-Oaxaca indica que, en promedio, las familias monoparentales encabezadas por una mujer tienen 0,5 años de estudio más que las familias monoparentales encabezadas por el padre. Aproximadamente el 74,2 % de esta diferencia se explica por el modelo estimado y la parte inexplicada no tiene significación estadística. Conclusión. Los resultados sugieren que la estructura familiar afecta la dinámica intergeneracional de la educación y la acumulación de capital humano de los individuos.


Asunto(s)
Humanos , Composición Familiar , Cadenas de Markov , Escolaridad , Capital Social , Relaciones Padres-Hijo , Factores Socioeconómicos , Indicadores Económicos , Censos
18.
Arq. neuropsiquiatr ; 79(12): 1109-1115, Dec. 2021. tab, graf
Artículo en Inglés | LILACS | ID: biblio-1355702

RESUMEN

ABSTRACT Background: The genetic predisposition to multiple sclerosis (MS) is associated with HLA alleles, especially HLA-DRB1*15:01. Objective: To identify associations between findings in magnetic resonance imaging (MRI) and genetic features in a Brazilian cohort of patients with MS. Methods: We retrospectively studied data from 95 consecutive patients with MS. Two independent observers who were blinded to the clinical data identified black holes and enhanced lesions on T1 MRI sequences, and counted and measured contrast-enhanced lesions on T2 and Flair (fluid attenuation inversion recovery) sequences. Cases were classified according to lesion size, number, and volume. The HLA-DRB1, HLA-DQB1, and HLA-DQA1 alleles, and the rs4774, rs3087456, rs6897932, rs731236, and rs1033182 single nucleotide polymorphisms were identified by polymerase chain reaction amplification with sequence-specific primers using the One Lambda Inc. Kit, Canoga Park, CA, USA. Results: Patients with the HLA-DQA1*04:01 allele had lesion load (adjusted for age, sex, and MS duration) above median compared with patients with other HLA-DQA1 alleles (p=0.02). There were no differences among all the other HLA alleles and single nucleotide polymorphisms and lesion load. Conclusions: The correlation of the HLA-DQA1*04:01 allele with a higher lesion load on T2/Flair MRI sequences suggests that the presence of this allele is associated with the risk of greater MS severity.


RESUMO Antecedentes: A predisposição genética para a esclerose múltipla (EM) está associada a alelos HLA, principalmente o HLA-DRB1*15:01. Objetivo: Identificar associações entre lesões na ressonância magnética e características genéticas em uma coorte brasileira de pacientes com EM. Métodos: Estudamos retrospectivamente os dados de 95 pacientes consecutivos com EM. Dois observadores independentes que desconheciam os dados clínicos identificaram "black holes" e lesões realçadas pelo contraste nas sequências de ressonância magnética T1 e contaram e mediram as lesões nas sequências T2 e FLAIR (fluid attenuated inversion recovery). Os casos foram classificados de acordo com tamanho, número e volume da lesão. Os alelos HLA-DRB1, HLA-DQB1 e HLA-DQA1 e os polimorfismos de nucleotídeo único rs4774, rs3087456, rs6897932, rs731236 e rs1033182 foram identificados por amplificação de reação em cadeia da polimerase com iniciadores específicos de sequência usando o kit One Lambda Inc., Canoga Park, CA, EUA. Resultados: Os pacientes com alelo HLA-DQA1*04:01 apresentaram carga de lesão (ajustada para idade, sexo e duração da EM) acima da mediana em comparação com outros pacientes com demais alelos HLA-DQA1 (p=0,02). Não houve diferenças entre todos os outros alelos HLA e polimorfismos de nucleotídeo único e carga lesional. Conclusões: A correlação do alelo HLA-DQA1*04:01 com maior carga de lesão nas sequências de RM em T2 sugere que a presença desse alelo pode estar associada ao risco de maior gravidade da EM.


Asunto(s)
Humanos , Cadenas alfa de HLA-DQ/genética , Esclerosis Múltiple/genética , Esclerosis Múltiple/diagnóstico por imagen , Imagen por Resonancia Magnética , Estudios Retrospectivos , Genes MHC Clase II , Predisposición Genética a la Enfermedad , Alelos , Cadenas beta de HLA-DQ , Cadenas HLA-DRB1/genética , Frecuencia de los Genes
19.
Artículo en Español | LILACS, CUMED | ID: biblio-1408088

RESUMEN

La COVID-19 es una enfermedad causada por el virus SARS-COV2, la cual ha provocado la muerte de miles de personas en todo el mundo. La alta transmisibilidad es uno de los factores que dificulta considerablemente su contención. El análisis de las cadenas de contagio podría ofrecer elementos de interés, tanto para los estudios virológicos como epidemiológicos. Por otra parte, las ontologías se han convertido en una tecnología ampliamente aceptada para la representación del conocimiento y su correspondiente análisis. En ese sentido, el objetivo de este trabajo fue presentar un modelo ontológico para la representación y el análisis de las cadenas de contagio por COVID-19. La ontología fue desarrollada con el lenguaje OWL (Web Ontology Language), el cual es un lenguaje formal basado en lógicas descriptivas. Por lo tanto, esta propuesta podría ayudar a inferir conocimiento sobre las cadenas de contagios y así contribuir a la lucha que lleva a efecto la comunidad científica contra la COVID-19. La adopción de esta propuesta contribuirá a agilizar el análisis de las cadenas de contagio, así como a profundizar en la búsqueda de rasgos que pudieran pasar inadvertidos utilizando otros enfoques(AU)


COVID-19 is a disease caused by the SARS-CoV-2 virus which has killed thousands of people worldwide. Its high transmissibility is a factor that considerably hinders its containment. The analysis of contagion chains could provide elements of interest for both virological and epidemiological studies. On the other hand, ontologies have become a widely accepted technology for knowledge representation and its corresponding analysis. The purpose of the study was to present an ontological model for the representation and analysis of COVID-19 contagion chains. The model was developed in OWL (Web Ontology Language), a formal language based on descriptive logics. The proposal could therefore be useful to infer knowledge about contagion chains, thus contributing to the struggle of the scientific community against COVID-19. Adoption of this proposal will help speed up the analysis of contagion chains, as well as gain insight into the search for features which could go unnoticed if other approaches are used(AU)


Asunto(s)
Humanos , Masculino , Femenino , Ontología de Genes , COVID-19/mortalidad , COVID-19/transmisión
20.
Chinese Journal of Internal Medicine ; (12): 987-992, 2021.
Artículo en Chino | WPRIM | ID: wpr-911464

RESUMEN

Objective:To analyze the efficacy and safety of Daratumumab for the treatment of primary AL light chain systemic amyloidosis.Methods:Twenty one patients who were diagnosed as primary AL light chain systemic amyloidosis and treated with Daratumumab from 7 centers were retrospectively analyzed. Daratumumab was administrated as first line therapy in seven patients and 14 patients with relapsed settings. Hematological response, safety and survival were analyzed.Results:All 7 patients achieved very good partial response (VGPR) or better with first-line application of daratumumab. Three patients died, and the other four achieved organ remission. Among 14 relapsed patients, 2 patients had a difference of free light chain (dFLC) less than 20 mg/L before treatment, and 9 with a dFLC of more than 50 mg/L. All patients reached partial response (PR) or better, including 4 patients with complete response (CR), 3 with VGPR and 2 with PR. The response rate was 100% in 3 patients with dFLC 20-50 mg/L at baseline. The organ remission rate was 50% in patients with heart involvement and 58.3% in patients with kidney impairment. The overall median follow-up period was 5.3 months, and 11 months in surviving patients. One patient died of severe infection and disseminated intravascular coagulation (DIC) with stable amyloidosis. One patient switched to other regimens because dFLC elevated but did not fulfill progressive disease after 2 year application. As to safety, no grade 3/4 infusion reaction developed, and grade 1 infusion reaction occurred in 3 cases during the first infusion. Lymphocytopenia was seen in 75% patients including grade 3 or more in 30% patients.Conclusion:Daratumumab is effective to eliminate serum free light chain in both newly diagnosed and relapsed patients with systemic amyloidosis.

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