Analysis of blood component transfusion and some adverse reactions in myelodysplastic syndroms patients / 中国输血杂志

【Objective】 To analyze the blood transfusion and adverse reactions in myelodysplastic syndroms (MDS) patients, so as to improve transfusion management in MDS patients. 【Methods】 The diagnosis and treatment information of MDS patients with blood transfusion in our hospital from January 2003 to December 2022 were collected, and the component transfusion and adverse reactions were investigated. 【Results】 The average infusion volume of red blood cells(RBCs) and platelets were respectively (27.46±43.11 ) and (16.41±24.81 ) in 799 MDS patients, which had no correlation with gender and blood type. The incidence of adverse reactions was 18.27% (146/799), with the most common adverse reactions as delayed serologic transfusion reaction (DSTR) (9.01%, 72/799), followed by non hemolytic fever reaction (4.76%, 38/799) and allergic reaction (4.38%, 35/799). Compared with all patients with transfusion, DSTR was more common in females (P<0.05), with elder age and had more RBCs consumption (all P<0.01). 86.11%(62/72) were Rh system, and 40.28% (29/72) had 2 or more antibodies. The occurrence time of DSTR in some patients was not related to the volume of RBCs trans infusion. 【Conclusion】 MDS patients, with more average transfusion volume and higher incidence of adverse reactions especially DSTR, were recommended a strictly limited transfusion schedule and Rh phenotype matching RBC products. The investigation of immune status of MDS patients at different periods is helpful to provide new aspects and therapeutic measures for the pathogenesis of DSTR, and the antibody screening time may adjusted appropriately.

Late-Onset Hematological Toxicity (LOHT) in Patients with B-Cell Lymphomas: A Survey in 758 Cases

ABSTRACT Background: The increasing survival of patients with non-Hodgkin lymphoma has allowed the diagnosis of long-term complications, including late-onset hematological toxicity (LOHT), transitory cytopenias, or therapy-related myeloid neoplasm (t-MDS/t-AML). Objective: The objective of the study was to determine the frequency and clinical evolution of LOHT in patients with lymphoproliferative malignancies. Materials and Methods: Two cohorts of patients B-cell lymphomas were reviewed. Patients who achieved full hematologic recovery at the end of treatment, and thereafter developed any degree of cytopenia were included in the study. Clinical and biochemical parameters were compared between patients with and without cytopenias with X2 test. Bi- and multivariate analyses were performed to evaluate factors associated with the development of late-onset cytopenias. Results: Of 758 patients enrolled, 19 developed cytopenias (2.5%). Transitory cytopenia was documented in 6 cases, 3 developed ICUS, 8 t-MDS, and 2 t-AML. In patients with FL, only hemoglobin < 12 g/dL (p = 0.032) and >6 nodal areas (p = 0.037) at diagnosis were factors statistically significant for the development of cytopenia. During cytopenias, 55% of patients died. Conclusions: LOHT constitutes a cause of morbidity and mortality in 2.5% of lymphoma patients treated with different therapy regimens.

Evolução das manifestações clínicas de pacientes com doença de parkinson / Evolution of clinical manifestations of parkinson's disease patients

Objetivos: Avaliar o perfil clínico e epidemiológico dos pacientes parkinsonianos acompanhados no ambulatório de Distúrbios do Movimento do Hospital Governador Celso Ramos utilizando-se escaladas validadas. Métodos: Estudo longitudinal onde foram incluídos 167 pacientes consecutivos, em diferentes estágios da doença de Parkinson, atendidos no ambulatório de distúrbios do movimento do HGCR e reavaliados 20 pacientes em consulta, 5 anos após a primeira. Aplicou-se questionário e avaliou-se o primeiro sintoma motor cardinal entre as associações independentes e entre os escores de sintomas neurológicos motores avaliados através da escala UPDRS-MDS e Schwab and England Activities of Daily Living Scale. Resultados: Tremor foi o primeiro sintoma motor percebido mais frequentemente pelos pacientes (64,9%), dor foi a primeira queixa de 5,2% dos pacientes. A idade de início do primeiro sintoma foi inversamente proporcional à escolaridade. Quanto maior a pontuação nas escalar UPDRS-MDS ­ III (p=0,004) e Schwab and England Activities of Daily Living Scale (p=0,001) maior a tendência a inatividade. Conclusão: A doença de Parkinson geralmente é percebida por seus sintomas motores clássicos, entretanto, uma série de sintomas não motores iniciam e acompanham a evolução da doença conforme mostra a piora do perfil ao longo de 5 anos.

Objectives: To evaluate symptoms, establish a profile for the Parkinsonian patient of HGCR's Movement Disorders's Service. Method: Longitudinal study. 167 consecutive patients, in different stages of Parkinson's disease, and treated at HGCR movement disorders service were inclueded. 20 of them were reevaluated after 5 yers. A questionnaire was administered and the first cardinal motor symptoms was evaluated and associated with independent associations and with the scores of neurological symptoms measured by UPDRS-MDS and through the Schwab and England Activities of Daily Living Scale. Results: Tremor was the first motor symptom perceived most frequently by patients (64.9%), pain was the first complaint of 5,2% of patients. The age of onset of the first symptom was inversely proportional to schooling. The higher the scores in the UPDRS-MDS-III scale (p=0,004) and the Schwab and England Activities of the Daily Living Scale (p = 0,001) the greater the tendency to inactivity. Conclusion: Parkinson's disease is usually noticed by its classic motor symptoms, however, a series of non-motor symptoms begin and accompany the disease's progression. This study evaluated the profile of the clinical and epidemiological patients attending our service and showed important clinical worsening in the evolution of 5 years of disease.

Mutation in ε-Sarcoglycan Induces a Myoclonus-Dystonia Syndrome-Like Movement Disorder in Mice / 神经科学通报·英文版

Myoclonus dystonia syndrome (MDS) is an inherited movement disorder, and most MDS-related mutations have so far been found in the ε-sarcoglycan (SGCE) coding gene. By generating SGCE-knockout (KO) and human 237 C > T mutation knock-in (KI) mice, we showed here that both KO and KI mice exerted typical movement defects similar to those of MDS patients. SGCE promoted filopodia development in vitro and inhibited excitatory synapse formation both in vivo and in vitro. Loss of function of SGCE leading to excessive excitatory synapses that may ultimately contribute to MDS pathology. Indeed, using a zebrafish MDS model, we found that among 1700 screened chemical compounds, Vigabatrin was the most potent in readily reversing MDS symptoms of mouse disease models. Our study strengthens the notion that mutations of SGCE lead to MDS and most likely, SGCE functions to brake synaptogenesis in the CNS.

Assessment of the global status of COVID-19 epidemics / 公共卫生与预防医学

Objective To analyze the global status of COVID-19 epidemics, so as to preliminarily forecast the epidemic trend. Methods The epidemiological data of 208 countries and the prevention and control policies implemented by typical countries from December 31, 2019 to December 14, 2020 were collected. We use the cumulative incidence rate, cumulative mortality, cumulative fatality and real-time dependent reproduction number (Rt) to analyze the epidemic status. We use the provenance package to group different countries and discuss the effect of prevention and control measures. Results As of December 14, 2020, a cumulative incidence of 93.49 per 10000, a cumulative mortality rate of 0.21‰, and a cumulative fatality rate of 3.1‰ had been reported globally.112 of the 208 countries still had Rt ≥ 1.0, and 96 countries had Rt t , and the government had adopted more relaxed epidemic prevention measures. The epidemic situation in this region may continue to deteriorate, and needs to be focused in the later period.

Manejo de pacientes con síndrome mielodisplásico en época COVID-19 / Management of patients with Myelodysplastic Syndrome in the COVID-19 era

Resumen La infección por coronavirus 2 del síndrome respiratorio agudo grave ha provocado un cambio en la forma de atender a los pacientes con enfermedades hematológicas en todo el mundo. Los pacientes con síndrome mielodisplásico (SMD) se han visto afectados por la ausencia de conocimiento del comportamiento de la enfermedad por coronavirus 2019 (COVID-19) en este tipo de padecimiento. Se han establecido lineamientos internacionales que han permitido continuar con la atención de dichos pacientes. El principal objetivo de esta revisión es definir las medidas preventivas y las estrategias de tratamiento que se deben de tomar al momento de evaluar a un paciente con SMD en la época COVID-19.

Abstract SARS-CoV-2 infection has caused a change in the way we care for patients with hematological diseases around the world. Patients with myelodysplastic syndrome (MDS) have been affected by the lack of knowledge of the behavior of COVID-19 in this type of condition. International guidelines have been established that have made it possible to continue caring for these patients. The main objective of this review is to define the preventive measures and treatment strategies that should be taken when evaluating a patient with myelodysplastic syndrome in the COVID-19 era.

Aetiological Profile of Anaemia in Elderly at a Tertiary Care Centre

Anaemia is a common clinical condition in elderly commonly associated with increased morbidity and mortality, increased hospitalization, decreased physical performance, loss of mobility and disability at higher rates than those people without anaemia. The present study was undertaken to assess the aetiological profile of anaemia in elderly. METHODSA cross sectional study was done among elderly patients with anaemia admitted in general medicine department and / or attending general medicine OPD, IGIMS, Patna, Bihar. 100 consecutive patients were selected as per inclusion and exclusion criteria. The patients were subjected to a thorough clinical examination and investigation, and data was analysed. RESULTSAnaemia is more common in males with a male to female ratio of 2.84:1. Maximum numbers of cases was in the age range of 61 to 70 comprising 70 % followed by 23 % in 71 to 80 years age group and 6 % in 81 to 90 years age group. Weakness was the most common presentation comprising 74 % cases. Comorbidities in patients along with anaemia were solid malignancy in 5 %, diabetes mellitus (DM) in 7 %, hypertension (HT) in 6 %, chronic kidney disease (CKD) in 5 %, cor pulmonale in 3 % and hypothyroidism in 1 %. 48 % patients were having moderate anaemia and 45 % patients were having severe anaemia. Morphologically most common variety of anaemia was normocytic normochromic contributing 57 % of the patients. Bone marrow examination done in 62 cases revealed hyper cellular marrow in 27, normocellular in 24, hypo cellular marrow in 6 and mildly hyper cellular to normocellular in 5 cases. Aetiological distribution showed 14 % of anaemia of chronic disease (ACD) and 14 % due to vitamin B12 deficiency. This was closely followed by iron deficiency anaemia (IDA) in 13 % cases. CONCLUSIONSAnaemia in elderly is a common clinical condition commonly presenting with nonspecific symptom. Normocytic normochromic anaemia is the most common morphological type of anaemia with various underlying treatable aetiologies.

Microsponge: An Innovative Strategy For Drug Delivery System

Microsponge technology has been introduced in topical drug products to facilitatethe controlled release of active drug into the skin in order to reduce systemic exposure andminimize local cutaneous reactions to active drugs. Microsponge consists of macroporousbeads, typically 10-25µ in diameter, loaded with active agent. When applied to the skin, themicrosponge releases its active ingredients on a time mode and also in response to otherstimuli. Microsponge drug delivery technology holds a great promise for reaching the goal ofcontrolled and site-specific drug delivery and hence, has attracted wide attention ofresearchers. This article presents a broad review of Microsponges delivery system discussingthe principles and preparation methods. Appropriate analytical techniques for characterizationof Microsponges like Particle size and its distribution, surface morphology, porosity, densityare covered. These microsponges are used in the sunscreens, creams, ointments, over-thecounter skin care preparations, which are meant for topical application. Microsponge drugdelivery can provide increased efficacy for topically active agents with enhanced safety,extended product stability and improved aesthetic properties in an efficient and novel manner.They are mostly used for topical use and have recently been used for oral administration

In Silico Design Of Potential 1,5-benzothiazepine Derivatives As An Anti- Convulsant Agent By Molecular Docking Studies

Epilepsy is characterized by the presence of recurrent seizures. A seizure can be defined as “an episodic disturbance of movement, feeling, or consciousness caused by sudden synchronous, inappropriate, and excessive electrical discharges in the cerebral cortex”. One in every three patients with epilepsy is probable to be severely disabled. It is continuing this scenario as an attempt to develop potent and nontoxic anti-convulsant agents. Recently discovery of benzothiazepine derivatives as an anticonvulsant agent is significant area for research in medicinal chemistry as it is free from all side effects which is shown by a developed as an anticonvulsant agent. In this paper, we have presented results of 2D, and 3D docking poses studies of a series of 300 (Three series) molecules containing 1,5-benzothiazepine pharmacophore as anti-convulsant agents. Docking analysis was utilized to predict the mechanism of action of the designed derivatives for anticonvulsant potential. All the molecules exhibited binding score in the range of -82.61 to -118.25 kcal/mol. Most active molecules from Series 1, 2 and 3 exhibited hydrogen bond interactions with LEU282B, LEU282B and LEU282B. Also for the selected standard sodium phenytoin showed the hydrogen bond interaction with LYS637A. It was noted that the docking score of 1a to 10a, 101b to 110b and 201c to 210c was almost same as that of selected standard sodium phenytoin. Protein showed hydrogen bonding with all synthesized compound showed potential against the epilepsy with GABA nergic mechanism.

Quality assessment of soil fertility of planting Chrysanthemum morifolium areas of Macheng city based on minimum data set / 中国中药杂志

A minimal data set( MDS) for soil fertility evaluation of Chrysanthemum plantation areas of Macheng city was established by principal component analysis( PCA) combined with Norm values of soil fertility indices and correlation coefficients among indices. A radar map was used to visually reflect the fertility level of individual indicators. Then,the comprehensive index model was used to calculate the soil fertility quality index( SFQI),and the values of SFQI was used to cluster,and the results showed that MDS was composed of five indicators: organic matter( OM),total phosphate( TP),available phosphorus( Av P),available magnesium( Av Mg) and available ferrum( Av Fe). Radar maps showed that the fertility of available phosphorus( Av P) and available copper( Av Cu) was mostly different in the two town,and the fertility of available ferrum( Av Fe) is smallest different. Except for the effective manganese( Av Mn) fertility level of Huangtugang town was higher than that of Futianhe town,the rest were lower than that of Futianhe town. Through analysis,the sensitivity of SFQI value calculated by taking the contribution rate of MDS index in the principal component of the whole data set( TDS) as the weight was the highest,MDS could better replace TDS. The value of SFQI-MDS ranged from 0. 353 to 0. 833,with an average value of 0. 604 and a coefficient of variation of 22%. The results of SFQI-MDS clustering showed that soil fertility could be divided into four categories: grade Ⅰ( 0. 727-0. 833) was superior,accounting for 25. 0%,grade Ⅱ( 0. 615-0. 681)was good,accounting for 29. 2%,mainly distributed in Futianhe Town,grade Ⅲ( 0. 494-0. 589) was medium,accounting for29. 1%,and grade Ⅳ( 0. 353-0. 419) was poor,accounting for 16. 7%,mainly distributed in Huangtugang town. Soil fertility of Futianhe town was better than that of Huangtugang town. It is suggested that boron fertilizer and potassium fertilizer should be supplemented to Chrysanthemum morifolium in production practice,and the amount of phosphate fertilizer,magnesium fertilizer and nitrogen fertilizer should be increased appropriately. At the same time,the amount of organic fertilizer should be increased to enhance soil fertility and improve soil physical and chemical properties.

The interpretation of diagnostic criteria for myelodysplastic syndromes (2017) / 天津医药

@#Myelodysplastic syndromes (MDS) comprises a heterogeneous group of myeloid clonal neoplasms characterized by peripheral cytopenia, dysplasia and a variable clinical course with about 30% risk to transform to secondary acute myeloid leukemia (AML). In the past 15 years, diagnostic evaluations, prognostication and treatment of MDS have improved substantially. However, with the discovery of molecular markers and advent of novel targeted therapies, new challenges have emerged in the complex field of MDS. We will summarize the proposed criteria for a classification of pre- MDS conditions as well as a proposed update for minimal diagnostic criteria of MDS in the present article.

Characteristics and clinical significance of osteogenic differentiation of mesenchymal stem cells derived from bone marrow in patients with myelodysplastic syndromes / 中国肿瘤生物治疗杂志

@#[Abstract] Objective: To investigate the osteogenic differentiation characteristics of mesenchymal stem cell (MSC) derived from bone marrow in patients with myelodysplastic syndromes (MDS) and its clinical significance. Methods: Bone marrow samples from 30 cases of newly diagnosed untreated MDS patient atAffiliated Hospital of Heibei University were collected for this study. MSCs from MDS patients and normal subjects were isolated and cultured, and morphological characteristics of MSCs were observed in vitro; under proper conditions, MSCs were induced to differentiate into osteoblasts and adipocytes; The formation of calcium nodules at 14th day after osteogenic differentiation was observed by alizarin red staining; mRNA expressions of osteogenic differentiation transcription factors Ostefix and RUNX2 in undifferentiated MSCs, as well as the mRNAexpression of Jagged-1, which involved in the transformation from hematopoietic cells into leukemic cells, were detected by quantitative PCR. Results: The MSCs derived from patients with MDS were characterized with increased cell volume and decreased differentiation potential. Compared with the control group, the expression levels of osteogenic differentiation transcription factors Osterix and RUNX2 were significantly decreased (P < 0.05). Alizarin red staining showed that the content of calcium nodules in MDS group was significantly less than that in the normal control group, while the expression level of Jagged-1 was significantly higher (P < 0.05). Conclusion: MSCs derived from bone marrow of MDS patients showed significant increased cell volume, decreased differentiation potential and elevated Jagged-1 expression; all of these might play important roles in the .hematopoietic failure and progression to acute myeloid leukemia in MDS patients.

Hospital Networked Medical Equipment Safety Management / 中国医疗器械杂志

With the continuous improvement and wide application of hospital information, more and more medical equipment is integrated into the hospital information systems, which brings new work contents and challenges for the traditional clinical engineers. This paper reviews and evaluates the current situation of networked medical equipment in the hospital. By applying the ISO 80001 and the MDS(Manufacturer Disclosore Statement for Medical Device Security), the paper puts forward the measures and suggestions for the security management of networked medical equipment.

Associations of XRCC1 S326C (rs25487) gene Polymorphism in Myelodysplastic syndrome / Эрүүл мэндийн лаборатори

Introduction@#Base excision repair (BER) is mainly responsible for the correction of small base changes of DNA damage. BER pathway involved many enzymes including OGG1 and XRCC1. The defective DNA repair is associated with an increased risk of various cancers including hematologic malignancies-leukemia and myelodysplastic syndrome (MDS). However, it is deniably these polymorphisms alter the susceptibility and clinical outcome of MDS patients.@*The aim@#This study was to evaluate the impact of polymorphisms in gene encoding one protein of BER system: XRCC1 Arg399Gln in MDS and healthy population.@*Methods@#In this study, we recruited 60 health control group [median 47.9 years, 9 MDS subjects [median 56.6 years] were included in this study. Genotyping was carried out by the polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP) technique. Allele and genotype frequencies were calculated by direct counting.@*Result@#The frequencies of genotypes of XRCC1 Arg399Gln were as follows: Arg /Arg 1 (11%), Arg/Gln 6 (66%), Gln/Gln 2 (22%) in MDS and Arg /Arg 18.4%, Arg/Gln40%, Gln/Gln41.6% in health control for XRCC1 Arg399Gln. The result revealed that genotypes Arg399Gln increased the risk of MDS@*In conclusion@#this study is the first to analyze XRCC1 SNPs and their associated risk of MDS in Mongolian samples. To fully understand the role of DNA damage and DNA repair in the MDS, prospective studies are needed and other genes (OGG1 Ser326Cys, MUTYH Gln324His, APE Asp148Glu) of base excision repair pathway should be analyzed.

Diagnostics and Prognostication of Myelodysplastic Syndromes

MDS are a heterogeneous and complex group of clonal hematological neoplasms arising from a hematopoietic stem cell, and characterized by ineffective hematopoiesis, resulting in increased apoptosis in the bone marrow and peripheral cytopenia, which involves one or more lineages. Epigenetic changes are reported as ‘founder’ mutations in the case of MDS. Its incidence in the general population has been reported as five new MDS diagnoses per 100,000 people. It affects men more frequently than it does women, and its incidence increases with age. The diagnostic classification, now in use, is the one of the World Health Organization, revised in August 2016. It recognizes six distinct entities in addition to a provisional entity of childhood. In most of the cases, diagnosis is based on the morphologic quantitative and qualitative evaluation of the peripheral blood and bone marrow using basic hematological techniques. Bone marrow biopsy and flow cytometric immunophenotyping also offer support for further diagnostic elucidation, while cytogenetics and molecular genetics are presently fully integrated into prognostication, treatment processes, and decision-making.

Pathogenesis of myelodysplastic syndromes: an overview of molecular and non-molecular aspects of the disease

Myelodysplastic syndromes (MDS) are a group of clonal disorders arising from hematopoietic stem cells generally characterized by inefficient hematopoiesis, dysplasia in one or more myeloid cell lineages, and variable degrees of cytopenias. Most MDS patients are diagnosed in their late 60s to early 70s. The estimated incidence of MDS in the United States and in Europe are 4.3 and 1.8 per 100,000 individuals per year, respectively with lower rates reported in some Asian countries and less well estimated in other parts of the world. Evolution to acute myeloid leukemia can occur in 10-15% of MDS patients. Three drugs are currently approved for the treatment of patients with MDS: immunomodulatory agents (lenalidomide), and hypomethylating therapy [HMT (decitabine and 5-azacytidine)]. All patients will eventually lose their response to therapy, and the survival outcome of MDS patients is poor (median survival of 4.5 months) especially for patients who fail (refractory/relapsed) HMT. The only potential curative treatment for MDS is hematopoietic cell transplantation. Genomic/chromosomal instability and various mechanisms contribute to the pathogenesis and prognosis of the disease. High throughput genetic technologies like single nucleotide polymorphism array analysis and next generation sequencing technologies have uncovered novel genetic alterations and increased our knowledge of MDS pathogenesis. We will review various genetic and non-genetic causes that are involved in the pathogenesis of MDS.

Aplicabilidad de estadística multivariada para estudios nutricionales: bioensayo con el gorgojo de arroz (Sitophilus oryzae L) / Applicability of Multivariate Statistics for nutritional studies: bioassay rice weevil (Sitophilus oryzae L)

El análisis de componentes principales (PCA), escalamiento multidimensional no-métrico (MDS) y el análisis de similaridad (ANOSIM) son técnicas estadísticas multivariadas, las dos primeras representan gráficamente de manera simultánea las unidades estadísticas y las variables que las caracterizan, evaluando similaridades entre las unidades y correlaciones entre las variables, la última técnica dota de un test estadístico no paramétrico para comparar agrupaciones de las unidades. Este trabajo evaluó la aplicabilidad de estas técnicas para valorar la calidad nutricional de la dieta, utilizando el bioensayo del gorgojo de arroz. Las dietas ensayadas fueron: almidón de maíz; almidón de papa; 5% glucosa; arvejas; ayuno y ayuno con agua. Se estudiaron las variables supervivencia, variación de peso y composición corporal. El PCA y MDS mostraron relaciones positivas de la supervivencia y variación de peso con los parámetros corporales grasa y carbohidratos, siendo mayor para dietas de almidón, similares al control positivo. En el PCA se observaron diferencias en las poblaciones mantenidas con las diferentes dietas; el MDS no distingue claramente entre ellas, aún cuando logra diferenciar la dieta definida por el ayuno de las restantes. Ambos estudios definieron un gradiente del valor nutritivo de las dietas, en el eje de las abscisas. El ANOSIM indicó diferencias significativas (p<0,05) entre grupos de insectos sustentados con estas dietas. Esta prueba refuerza los resultados obtenidos en el PCA y MDS. La aplicación de estas herramientas estadísticas son promisorias para analizar procesos complejos, como la interacción de distintas variables que midan la calidad nutricional de diferentes dietas.

The principal component analysis (PCA), non-metric multidimensional scaling (MDS) and analysis of similarity (ANOSIM) are multivariate statistical techniques that graphically represent numerical measures of several factors and display multiple relationships that may exist between them. In this study, we evaluated the applicability of these techniques to analyze the nutritional quality of diet, using as model, the bioassay rice weevil. The diets tested were: corn starch, potato starch, 5% glucose, peas, starved and starved with water supply. The variables studied were: survival, weight change and body composition. The PCA and MDS showed positive relationships of survival and weight change with body fat and carbohydrate parameters. Fat and carbohydrates were greater in starches diets, similar to the positive control. The PCA showed differences between populations fed with different diets, whereas the MDS showed similarity between diets. Both studies defined a gradient of the nutritive value of diets in the x-axis. The ANOSIM indicate significant (p<0, 05) differences between groups. This test is necessary to support the results obtained in the PCA and MDS. The application of these statistical tools is promising to analyze complex processes such as interaction of differents variables to measure the nutritional quality of diets.

Lenalidomide, p53 and del(5q) Myelodysplastic Syndrome: Ribosome Stress Relief.

Whereas deletions involving the long arm of chromosome 5 are among the most common chromosomal abnormalities in myelodysplastic syndrome (MDS), isolated del(5q) MDS, which includes the 5q- syndrome, is rare and characterized by hypoplastic anemia and a moderate risk of transformation to acute myeloid leukemia (AML). The 5q- syndrome is now recognized as a ribosomopathy, and both the classic 5q- syndrome and del(5q) MDS are uniquely responsive to lenalidomide. However, the mechanism of action of lenalidomide is controversial and involves modulation of p53 activity, which may be beneficial in anemia remission but suggested to lead to malignant cell outgrowth. Here, we critically review the literature on this important controversy, which has obvious implications for therapy of del (5q) MDS.

Allogeneic hematopoietic cell transplantation in adult patients with myelodysplastic/myeloproliferative neoplasms

BACKGROUND: In adults, the 2 main types of myelodysplastic/myeloproliferative neoplasms (MDS/MPN) are chronic myelomonocytic leukemia (CMML) and atypical chronic myeloid leukemia (aCML). Both are associated with a poor prognosis. Allogeneic hematopoietic cell transplantation (HCT) is the only known curative treatment modality for these diseases, but data on outcomes following such treatment are limited. We analyzed the outcomes of patients with MDS/MPN after allogeneic HCT. METHODS: This retrospective study included 10 patients with MDS/MPN who received allogeneic HCT at Asan Medical Center from 2002 to 2010. Of these 10 patients, 7 had CMML, 2 had aCML, and 1 had unclassifiable MDS/MPN. Five patients received a myeloablative conditioning (MAC) regimen (busulfan-cyclophosphamide), and 5 received reduced-intensity conditioning (RIC) regimen. RESULTS: Neutrophil engraftment was achieved in all patients. After a median follow-up of 47.5 months among surviving patients, 4 had relapsed and 5 had died. There was only 1 treatment-related death. The 5-year rates of overall, relapse-free, and event-free survival were 42.2%, 51.9%, and 46.7%, respectively. Relapse was the leading cause of treatment failure, and all relapses were observed in patients who had received RIC and who did not develop chronic graft-versus-host disease. CONCLUSION: Allogeneic HCT can induce durable remission in patients with MDS/MPN, but RIC cannot replace MAC in patients eligible for myeloablative treatments.

Avaliação do método da imunofenotipagem por citometria de fluxo no diagnóstico das doenças displásicas (SMD, LMA-relacionada à mielodisplasia, LMMC e LMMJ) em adultos e crianças / Evaluation of the method of immunophenotyping by flow cytometry in the diagnosis of dysplastic disease (MDS, AML-related to myelodysplasia,CMML and JMML) in adults and children

As síndromes mielodisplásicas (SMD) se caracterizam por terem uma hematopoese displásica, citopenias e pelo risco de progressão para leucemia mielóide aguda. O diagnóstico baseia-se na clínica e nos achados citomorfológicos da medula óssea (MO) e citogenéticos. Na fase inicial ou quando a MO é hipocelular o diagnóstico é difícil e a citogenética frequentemente é normal. A imunofenotipagem (IMF) tem sido cada vez mais utilizada nos casos de SMD em adultos e pouco explorada na SMD pediátrica. Os nossos objetivos foram: estudar os casos de SMD e doenças correlatas (LMA relacioanda à SMD: LMA-rMD; leucemia mielomonocítica crônica: LMMC e leucemia mielomonocítica juvenil: LMMJ) em adultos e crianças, associando os dados clínicos e laboratoriais aos obtidos pela IMF, que utilizou um painel de anticorpos monoclonais para as várias linhagens medulares. No período compreendido entre 2000 e 2010 foram estudados 87 pacientes (64 adultos e 23 crianças) oriundos do HUPE/UERJ e IPPMG/UFRJ e 46 controles (23 adultos e 20 crianças). Todos os doentes realizaram mielograma, biópsia óssea, citogenética, citoquímica e estudo imunofenotípico. Segundo os critérios da OMS 50 adultos foram classificados como SMD, 11 como LMA-rMD e 3 LMMC. Entre as crianças 18 eram SMD, 2 LMA e 3 LMMJ. Os pacientes adultos com SMD foram divididos em alto risco (n=9; AREB-1 e AREB-2) e baixo risco (n=41; CRDU, CRDM, CRDM-SA, SMD-N e SMD-5q). As crianças com SMD em CR (n=16) e AREB (n=2). Anormalidades clonais recorrentes foram encontradas em 22 pacientes adultos e em 7 crianças. Na análise de IMF foi utilizada a metodologia da curva ROC para a determinação dos valores de ponto de corte a fim de identificar os resultados anormais dos anticorpos monoclonais nos pacientes e nos controles, permitindo determinar a sensibilidade e especificidade desses em cada linhagem. A IMF foi adequada para a análise em todos os pacientes e 3 ou mais anormalidades foram encontradas. A associação da IMF...

Myelodysplastic syndrome (MDS) is characterized by having a dysplastic hematopoiesis, cytopenias and risk of progression to acute myeloid leukemia. The diagnosis is based on clinical and cytomorphologic findings in bone marrow (BM) and cytogenetics. In the initial phase of when the BM is hypocellular, diagnosis is difficult and often with normal karyotype. The flow cytometry immunophenotyping (FCI) analysis has been broadly used in adult MDS cases but is rarely in pediatric MDS. The objectives of this work were: to study MDS cases and correlated diseases (AML with myelodysplasia-related changes; chronic myelomonocytic leukemia - CMML and juvenite myelomonocytic leukemia - JMML) and to correlate laboratorial data to FCI using a panel of monoclonal antibodies for the various marrow lineages in both adult and children. In the period between 2000 and 2010, 87 patients were studied (64 adults and 23 children) coming from HUPE/UERJ and IPPMG/UFRJ and 46 controls (26 adults and 20 children). All patients were submitted to myelogram, bone marrow biopsy, cytogenetic, cytochemistry and immunophenotypic study. According to WHO criteria 50 adults were classified MDS, 12 AML and 3 CMML. Among the children there were 18 MDS, 2 AML, and 3 JMML. MDS adult patients were subdivided into high risk (n=9; RAEB-1 and RAEB-2) and low risk (n=41; RCUD, RCMD-RS, MDS-U and MDS-5q). MDS children were classified as RCC (n=16) and RAEB (n=2). Clonal abnormalities were found in 22 (35%) adult patients and 7 (30%) children. In the analysis of FCI methodology ROC curve was used for determination of cut off abnormalities at monoclonal antibodies in patients and controls which allowed to estimate the sensitivity and specificity of each strain. The FCI was suitable for analysis in all patients and 3 or more abnormalities were found. The association of the FCI increased the sensitivity of morphological analysis in the erythroid lineage from 70 to 97% in adults and from 59 to 86% in children...