Developmental outcome of electroencephalographic findings in SYNGAP1 encephalopathy.

SYNGAP1 haploinsufficiency results in a developmental and epileptic encephalopathy (DEE) causing generalized epilepsies accompanied by a spectrum of neurodevelopmental symptoms. Concerning interictal epileptiform discharges (IEDs) in electroencephalograms (EEG), potential biomarkers have been postulated, including changes in background activity, fixation-off sensitivity (FOS) or eye closure sensitivity (ECS). In this study we clinically evaluate a new cohort of 36 SYNGAP1-DEE individuals. Standardized questionnaires were employed to collect clinical, electroencephalographic and genetic data. We investigated electroencephalographic findings, focusing on the cortical distribution of interictal abnormalities and their changes with age. Among the 36 SYNGAP1-DEE cases 18 presented variants in the SYNGAP1 gene that had never been previously reported. The mean age of diagnosis was 8 years and 8 months, ranging from 2 to 17 years, with 55.9% being male. All subjects had global neurodevelopmental/language delay and behavioral abnormalities; 83.3% had moderate to profound intellectual disability (ID), 91.7% displayed autistic traits, 73% experienced sleep disorders and 86.1% suffered from epileptic seizures, mainly eyelid myoclonia with absences (55.3%). A total of 63 VEEGs were revised, observing a worsening of certain EEG findings with increasing age. A disorganized background was observed in all age ranges, yet this was more common among older cases. The main IEDs were bilateral synchronous and asynchronous posterior discharges, accounting for ≥50% in all age ranges. Generalized alterations with maximum amplitude in the anterior region showed as the second most frequent IED (≥15% in all age ranges) and were also more common with increasing age. Finally, diffuse fast activity was much more prevalent in cases with 6 years or older. To the best of our knowledge, this is the first study to analyze EEG features across different age groups, revealing an increase in interictal abnormalities over infancy and adolescence. Our findings suggest that SYNGAP1 haploinsufficiency has complex effects in human brain development, some of which might unravel at different developmental stages. Furthermore, they highlight the potential of baseline EEG to identify candidate biomarkers and the importance of natural history studies to develop specialized therapies and clinical trials.

Digital PCR Improves Sensitivity and Quantification in Monitoring CAR-T Cells in B Cell Lymphoma Patients.

Chimeric antigen receptor T cells (CAR-T) has emerged as a promising therapy, over 60% of patients fail to sustain a long-term response. The underlying factors that leads to the effectiveness of this therapy are not completely understood, CAR-T cell persistence and monitoring seems to be pivotal for ensuring a successful response. Various monitoring methods such as multiparametric flow cytometry (MFC) or quantitative PCR (qPCR) have been applied. Our objective is to develop digital PCR (dPCR) assays for detection and quantification of CAR-T cells, comparing them with MFC and qPCR. Samples taken at different follow-up times from 45 patients treated with CAR-T therapy were analyzed to assess the correlation between the different methodologies. dPCR presented a high correlation with MFC and qPCR (r = 0.97 and r = 0.87, respectively), while offering a higher sensitivity (0.01%) compared to MFC (0.1%) and qPCR (1%). dPCR emerged as an alternative and highly sensitivity method for monitoring CAR-T cell dynamics. This technique is well-suited for implementation in clinical practice as a complementary technique to MFC.

Prognostic value of defining characteristics in frail elderly syndrome: Hospital readmission and mortality outcomes.

OBJECTIVE: To identify the most relevant clinical characteristics of the nursing diagnosis frail elderly syndrome (FES) in hospitalized patients aged 65 or older and analyze their impact on 9-month mortality and hospital readmission. METHODS: A prospective and prognostic accuracy study was conducted in patients aged 65 or older, who were admitted to hospital more than 24 h. A consecutive convenience sampling process was used. Assessment included defining characteristics (DCs) of FES, clinical fraility scale (CFS), frail scale (FS), and 9-month mortality and hospital readmission. Statistical tests were used to verify associations between variables. Binary logistic regression analysis and area under the curve were used, to identify significant predictors for the outcomes and evaluate the prognostic accuracy of the DCs. FINDINGS: This study involved 150 patients. CFS scored 65 patients (43.3%, confidence interval 95% 35.2% a 51.6) as frail and proved a prognostic value of mortality at 9 month from pre-frail state (p = 0.020). The mean number of DCs for FES nursing diagnosis was 6.35 (SD = 3.14). Validated tools for measuring frailty were associated with all DCs, excepting nutritional imbalance: below body needs. The hospital readmission during the following 9 months was only statistically related to memory impairment (p = 0.07). CONCLUSION: Clinical frailty scale showed good results as a predictor of mortality. The study suggests exploring including it, in clinical manifestations of elderly frail syndrome. This study found that only memory impairment defining characteristic was predictive of hospital readmission. Further research should identify other relevant and prognostic clinical manifestations. IMPLICATION FOR NURSING PRACTICE: These findings highlight the importance of being vigilant on cognitive decline during hospital admissions. The most prevalent and determinant DCs identified in this study indicate that clinical should focus on preserving functional and mental abilities as well as mobility.

Adverse effects of dorsogluteal intramuscular injection versus ventrogluteal intramuscular injection: A systematic review and meta-analysis.

AIMS: To determine adverse effects of ventrogluteal intramuscular injections versus dorsogluteal intramuscular injections. DESIGN: A systematic review and meta-analysis. METHODS: MEDLINE, EMBASE, CINHAL, CENTRAL, LILACS(BVS), BDENF (BVS), WoS, IRCTP(WHO), ClinicalsTrials.gov and PROSPERO databases were searched with no restriction on year or language. Preferred Reporting items for Systematic Reviews and Meta-Analyses (PRISMA) guidelines were followed. RESULTS: A total of 1429 participants from 17 studies were included. The meta-analysis found that ventrogluteal injection site had significant relation to lower pain in 9 studies (SMD = -0.63, 95% CI = -0.87, -0.39), bleeding in 4 studies (SMD = -3.46, 95% CI = -6.07, -0.86) and hematoma in 2 studies; after 48 h (SMD = -0.25, 95% CI = -0.39, -0.11), and after 72 h (SMD = -0.16, 95% CI = -0.26, -0.06), if it was compared with dorsogluteal site injection. No differences were found when comparing the possibility of intramuscular injections given into de subcutaneous tissue. In three studies, ventrogluteal site did not significantly reduce the risk of subcutaneous injection (OR 0,62, 95% CI = 0.16, 2.41).

Cell-Free DNA Dynamic Concentration and Other Variables Are Predictors of Early Progression after Chimeric Antigen Receptor T Cell Therapy in Patients with Diffuse Large B Cell Lymphoma.

We propose a novel biomarker that can identify patients at high risk of early progression after chimeric antigen receptor (CAR) T cell therapy. Calculation of cell-free DNA (cfDNA) with a pre-apheresis (PA) and pre-lymphodepletion (PL) sample allows monitoring of tumor dynamics (∆cfDNA). In the present study, ∆cfDNA and other biomarkers and clinical variables were evaluated in 58 patients with relapsed/refractory diffuse large B cell lymphoma (DLBCL). ∆cfDNA (>11 ng/mL plasma; P =.003), C-reactive protein (CRP) PL (>1.06 mg/dL; P = .004), lactate dehydrogenase (LDH) PL (>304; P = .006), disease status PL (progressive disease; P = .035) and sex (male; P = .016) were highly correlated with 1 month progression. After adjusting for ∆cfDNA, CRP PL, and LDH PL, disease status PL, and sex, ∆cfDNA remained associated with 1-month progression after CAR T cell infusion.

Association between gene polymorphisms in the cyclophosphamide metabolism pathway with complications after haploidentical hematopoietic stem cell transplantation.

Allogeneic hematopoietic stem cell transplantation (allo-HSCT) is a curative treatment for patients with hematologic malignances. Haploidentical HSCT (Haplo-HSCT) is an alternative option for patients who do not have an HLA-matched donor. The use of post-transplantation high dose cyclophosphamide (PT-Cy) is commonly employed for graft-versus-host disease (GVHD) prophylaxis in haplo-HSCT. Cyclophosphamide (Cy) is an alkylating agent with antineoplastic and immunosuppressive activity, whose bioactivation requires the activity of polymorphic enzymes in the liver to produce phosphoramide mustard, which is a DNA alkylating agent. To identify polymorphisms in the genes of Cy metabolism and correlate them with post-HSCT complications [GVHD, sinusoidal obstruction syndrome (SOS), hemorrhagic cystitis (HC) and transplant-related mortality (TRM)], we designed a custom next-generation sequencing panel with Cy metabolism enzymes. We analyzed 182 patients treated with haplo-HSCT with PT-Cy from 2007 to 2019, detecting 40 variants in 11 Cy metabolism genes. Polymorphisms in CYP2B6, a major enzyme involved in Cy activation, were associated with decreased activity of this enzyme and a higher risk of Graf-versus-host disease (GVHD). Variants in other activation enzymes (CYP2A6, CYP2C8, CYP2C9, CYP2C19) lead to decreased enzyme activity and were associated with GVHD. Polymorphisms in detoxification genes such as glutathione S-transferases decreased the ability to detoxify cyclophosphamide metabolites due to lower enzyme activity, which leads to increased amounts of toxic metabolites and the development of III-IV acute GVHD. GSMT1*0 a single nucleotide polymorphism previously recognized as a risk factor for SOS was associated with a higher risk of SOS. We conclude that polymorphisms of genes involved in the metabolism of cyclophosphamide in our series are associated with severe grades of GVHD and toxicities (SOS and TRM) after haplo-HSCT and could be used to improve the clinical management of transplanted patients.

Intervenciones de enfermería psicoeducativas presenciales y on-line, para el manejo de la ansiedad: revisión integradora de la literatura / Face-to-face and online psychoeducational nursing interventions for anxiety management: an integrative review of the literatura

Objetivo: analizar las evidencias encontradas en la literatura científica sobre el impacto de las intervenciones psico-educativas en el manejo de la ansiedad, desarrolladas en línea o presenciales con participación de profesionales de enfermería. Método: revisión narrativa e integradora de literatura científica mediante la búsqueda de publicaciones en los principales metabuscadores y en los artículos indexados de las bases de datos de SciELO, MEDLINE y LILACS. Resultados/Discusión: la búsqueda de artículos basados en intervenciones psico-educativas en línea para el manejo de la ansiedad y enfermería, aportó 4.295 publicaciones que, tras las tres etapas de lectura y filtrado, sólo 11 fueron seleccionados: dos revisiones sistemáticas, ocho ECAs y un estudio cuasiexperimental. El aspecto psico-educativo es transversal en cada publicación, siendo efectivo para el manejo de la ansiedad en diversas situaciones clínicas. Aunque hay diversos estudios que evidencian la realización de intervenciones psico-educativas presenciales lideradas por enfermería, no se encontró ningún estudio o investigación específica desarrollada por enfermeras íntegramente en formato on-line. Conclusión: Las modalidades de intervención, estrategias y programas psico-educativos que aprovechan la facilidad de uso e impacto que aporta el uso de las TICs, deben ser valorados desde el ámbito clínico de forma más exhaustiva, ya que estas herramientas facilitan la incorporación de la psico-educación en la rutina clínica. La falta de evidencia sobre la eficacia de estas intervenciones cuando son diseñadas y desarrolladas íntegramente por enfermeras hace necesario plantear investigaciones que evalúen sus resultados. (AU)

Objective: To analyze the evidence found in the scientific literature of the impact of psycho-educational interventions on anxiety management, carried out online or in person with the participation of nursing professionals. Method: Narrative and integrative review of scientific literature by searching for publications in the main metasearch engines and in the indexed articles of the SciELO, MEDLINE and LILACS databases. Results/Discussion: The search for articles based on online psycho-educational interventions for anxiety management and nursing, provided 4,295 publications, of which, after the three stages of reading and filtering, only 11 were selected: two systematic reviews, eight RCTs and one quasi-experimental study. The psycho-educational aspect is transversal in each publication, being effective for the management of anxiety in various clinical situations. Although there are several studies that show the realization of face-to-face psycho-educational interventions led by nursing, we did not find any specific investigation or research carried out by nurses in an entirely online format. Conclusion: The intervention modalities, strategies and psycho-educational programs that take advantage of the ease of use and impact provided using ICT should be evaluated from the perspective of the clinical field in a more exhaustive way, since these tools facilitate the incorporation of psychoeducation into the clinical routine. The lack of evidence on the efficacy of these interventions when they are designed and implemented entirely by nurses makes it necessary to propose research that evaluates the results. (AU)

FLT3-ITD Expression as a Potential Biomarker for the Assessment of Treatment Response in Patients with Acute Myeloid Leukemia.

FLT3-internal tandem duplication (ITD) analysis is not typically performed in cDNA samples and is not considered an appropriate marker for monitoring measurable residual disease (MRD). The aims of this study were to compare FLT3-ITD mutation analysis in DNA and cDNA samples at diagnosis and to demonstrate the usefulness of its expression measurement as an MRD marker after allogeneic stem cell transplantation (allo-HSCT) or FLT3 inhibitor (FLT3i) administration. A total of 46 DNA and cDNA diagnosis samples, 102 DNA and cDNA post-allo-HSCT samples from 34 patients and 37 cDNA samples from 7 patients with refractory/relapse AML treated with FLT3i were assessed for the FLT3-ITD mutation through fragment analysis. In terms of sensitivity, the analysis of cDNA was superior to that of DNA, quantifying higher allelic ratio values in most cases at diagnosis, and thus optimizing the detection of minor clones and prognostic classification. Regarding the last sample before post-HSCT relapse, cDNA analysis anticipated relapse in most cases, unlike DNA analyses. With regard to the post-FLT3i follow-up, FLT3-ITD expression was reduced after the first FLT3i cycle when the treatment was effective, whereas it was not reduced in refractory patients. FLT3-ITD expression could be a useful additional biomarker at diagnosis and for the assessment of MRD after allo-HSCT and FLT3i in AML.

Risk prediction of CMV reactivation after allogeneic stem cell transplantation using five non-HLA immunogenetic polymorphisms.

Despite advances in the understanding of the pathophysiology of cytomegalovirus (CMV) infection, it remains as one of the most common infectious complications after allogeneic hematopoietic stem cell transplantation (allo-HSCT). The aim of this study was to determine the genotype of cytokines and chemokines in donor and recipient and their association with CMV reactivation. Eighty-five patients receiving an allo-HSCT from an HLA-identical sibling donor were included in the study. Fifty genes were selected for their potential role in the pathogenesis of CMV infection. CMV DNAemia was evaluated until day 180 after allo-HSCT. CMV reactivation was observed in 51/85 (60%) patients. Of the 213 genetic variants selected, 11 polymorphisms in 7 different genes (CXCL12, IL12A, KIR3DL1, TGFB2, TNF, IL1RN, and CD48) were associated with development or protection from CMV reactivation. A predictive model using five of such polymorphisms (CXCL12 rs2839695, IL12A rs7615589, KIR3DL1 rs4554639, TGFB2 rs5781034 for the recipient and CD48 rs2295615 for the donor) together with the development of acute GVHD grade III/IV improved risk stratification of CMV reactivation. In conclusion, the data presented suggest that the screening of five polymorphisms in recipient and donor pre-transplantation could help to predict the individual risk of CMV infection development after HLA-identical allo-HSCT.

Incorporation of next-generation sequencing in clinical practice using solid and liquid biopsy for patients with non-Hodgkin's lymphoma.

Although next-generation sequencing (NGS) data on lymphomas require further validation before being implemented in daily practice, the clinical application of NGS can be considered right around the corner. The aim of our study was to validate an NGS lymphoid panel for tissue and liquid biopsy with the most common types of non-Hodgkin's lymphoma [follicular lymphoma (FL) and diffuse large B-cell lymphoma (DLBCL)]. In this series, 372 somatic alterations were detected in 93.6% (44/47) of the patients through tissue biopsy. In FL, we identified 93 somatic alterations, with a median of 7.4 mutations per sample. In DLBCL, we detected 279 somatic variants with a median of 8.6 mutations (range 0-35). In 92% (24/26) of the cases, we were able to detect some variant in the circulating tumor DNA. We detected a total of 386 variants; 63.7% were detected in both types of samples, 13.2% were detected only in the circulating tumor DNA, and 23% were detected only in the tissue biopsy. We found a correlation between the number of circulating tumor DNA mutations, advanced stage, and bulky disease. The genetic alterations detected in this panel were consistent with those previously described at diagnosis. The liquid biopsy sample is therefore a complementary tool that can provide new genetic information, even in cases where a solid biopsy cannot be performed or an insufficient sample was obtained. In summary, we describe and analyze in this study the findings and difficulties encountered when incorporating liquid biopsy into clinical practice in non-Hodgkin's lymphoma at diagnosis.

Next Generation Cytogenetics in Myeloid Hematological Neoplasms: Detection of CNVs and Translocations.

Conventional cytogenetics are the gold standard for the identification of chromosomal alterations recurrent in myeloid neoplasms. Some next-generation sequencing (NGS) panels are designed for the detection of copy number variations (CNV) or translocations; however, their use is far from being widespread. Here we report on the results of a commercial panel including frequent mutations, CNVs and translocations in myeloid neoplasms. Frequent chromosomal alterations were analyzed by NGS in 135 patients with myeloid neoplasms and three with acute lymphoblastic leukemia. NGS analysis was performed using the enrichment-capture Myeloid Neoplasm-GeneSGKit (Sistemas Genómicos, Spain) gene panel including 35 genes for mutational analysis and frequent CNVs and translocations. NGS results were validated with cytogenetics and/or MLPA when possible. A total of 66 frequent alterations included in NGS panel were detected, 48 of them detected by NGS and cytogenetics. Ten of them were observed only by cytogenetics (mainly trisomy 8), and another eight only by NGS (mainly deletion of 12p). Aside from this, 38 secondary CNVs were detected in any of the genes included mainly for mutational analysis. NGS represents a reliable complementary source of information for the analysis of CNVs and translocations. Moreover, NGS could be a useful tool for the detection of alterations not observed by conventional cytogenetics.

Clinical Utility of the Detection of the Loss of the Mismatched HLA in Relapsed Hematological Patients After Haploidentical Stem Cell Transplantation With High-Dose Cyclophosphamide.

Haploidentical hematopoietic stem cell transplantation (Haplo-HSCT) with high-dose cyclophosphamide (PTCy) has resulted in a low incidence of graft-vs.-host disease (GVHD), graft failure, and non-relapse mortality. However, post-transplantation relapse remains a common cause of treatment failure in high-risk patients. Unraveling the mechanisms of relapse is therefore crucial for designing effective relapse treatment strategies. One of these mechanisms is the loss of the mismatched HLA on the recipient's leukemic cells. To study the incidence and clinical relevance of this phenomenon, we analyzed 181 patients treated with Haplo-HSCT with PTCy (2007-2019), of which 37 relapsed patients after transplantation. According to the kit employed for HLA-loss analysis, among 22 relapsed patients, we identified HLA loss at relapse in 6 of the 22 patients (27%) studied. Based on the results obtained, the genomic loss of HLA was more common in females than males (66 vs. 33%) and HLA-loss relapses occurred later than classical relapses (345 vs. 166 days). Moreover, the patients with HLA-loss had a greater presence of active disease at the time of transplantation and had undergone a larger number of treatment lines than the group with classical relapses (66 vs. 43% and 66 vs. 18%, respectively). Four of these relapses were studied retrospectively, while two were studied prospectively, the results of which could be considered for patient management. Additionally, two relapsed patients analyzed retrospectively had myeloid neoplasms. One patient had not undergone any treatment, and three had undergone donor lymphocyte infusions (DLIs) and chemotherapy. All presented severe GVHD and disease progression. In contrast, the two patients studied prospectively had a lymphoid neoplasm and were not treated with DLIs. One of them was treated with chemotherapy but died from disease progression, and the other patient underwent a second Haplo-HSCT from a different donor and is still alive. We can conclude that the detection of HLA-loss at the onset of relapse after Haplo-HSCT with PTCy could help in clinical practice to select appropriate rescue treatment, thereby avoiding the use of DLIs or a second transplantation from the same donor.

Clinical utility of targeted next-generation sequencing for the diagnosis of myeloid neoplasms with germline predisposition.

Myeloid neoplasms (MN) with germline predisposition (MNGP) are likely to be more common than currently appreciated. Many of the genes involved in MNGP are also recurrently mutated in sporadic MN. Therefore, routine analysis of gene panels by next-generation sequencing provides an effective approach to detect germline variants with clinical significance in patients with hematological malignancies. Gene panel sequencing was performed in 88 consecutive and five nonconsecutive patients with MN diagnosis. Disease-causing germline mutations in CEBPα, ASXL1, TP53, MPL, GATA2, DDX41, and ETV6 genes were identified in nine patients. Six out of the nine patients with germline variants had a strong family history. These patients presented great heterogeneity in the age of diagnosis and phenotypic characteristics. In our study, there were families in which all the affected members presented the same subtype of disease, whereas members of other families presented various disease phenotypes. This intrafamiliar heterogeneity suggests that the acquisition of particular somatic variants may drive the evolution of the disease. This approach enabled high-throughput detection of MNGP in patients with MN diagnosis, which is of great relevance for both the patients themselves and the asymptomatic mutation carriers within the family. It is crucial to make a proper diagnosis of these patients to provide them with the most suitable treatment, follow-up, and genetic counseling.

Genetic biomarkers identify a subgroup of high-risk patients within low-risk NPM1-mutated acute myeloid leukemia.

Although acute myeloid leukemia (AML) with NPM1mut/FLT3-ITDneg is a low-risk entity, its relapse rate remains high. Out of 333 AML patients, 27 were NPM1mut, and were analyzed in greater detail in order to find associations between clinical and molecular features and cumulative incidence of relapse. Next-generation sequencing (NGS) was performed on diagnosis and remission samples using two capture-based panels. The presence of the FLT3D835 variant at diagnosis and a qPCR value of NPM1mut ≥0.1% after induction chemotherapy were associated with an increased probability of relapse, especially if both conditions are present together. By contrast, patients in which the main clone found at diagnosis harbored NPM1 variant had a lower risk of relapse. Nineteen of the 85 variants found at diagnosis were detected by NGS in remission. AML Subgroup with NPM1mut/FLT3-ITDneg is a heterogeneous entity, which can be further risk-stratified based on molecular biomarkers.

Short Tandem Repeats (STRs) as Biomarkers for the Quantitative Follow-Up of Chimerism after Stem Cell Transplantation: Methodological Considerations and Clinical Application.

Chimerism refers to the relative proportion of donor and recipient DNA after hematopoietic stem cell transplantation (HSCT) and its quantitative follow-up is of great clinical utility in this setting. PCR of short tandem repeats (STR-PCR) constitutes the gold standard method for chimerism quantification, although more sensitive PCR techniques (such as qPCR) have recently arisen. We compared the sensitivity and the quantification capacity of both techniques in patient samples and artificial mixtures and demonstrated adequate performance of both methods, with higher sensitivity of qPCR and better quantification skills of STR-PCR. By qPCR, we then prospectively followed up 57 patients that were in complete chimerism (CC) by STR-PCR. Twenty-seven patients (59%) showed 0.1-1% recipient DNA in the bone marrow. Only 4 patients presented 0.1-1% recipient DNA in peripheral blood (PB), and one of them relapsed. Finally, by qPCR, we retrospectively studied the last sample that showed CC by STR-PCR prior to relapse in 8 relapsed patients. At a median of 59 days prior to relapse, six patients presented mixed chimerism by qPCR in PB. Since both approaches have complementary characteristics, we conclude that different techniques should be applied in different clinical settings and therefore propose a methodological algorithm for chimerism follow-up after HSCT.

Next-Generation Sequencing Improves Diagnosis, Prognosis and Clinical Management of Myeloid Neoplasms.

Molecular diagnosis of myeloid neoplasms (MN) is based on the detection of multiple genetic alterations using various techniques. Next-generation sequencing (NGS) has been proved as a useful method for analyzing many genes simultaneously. In this context, we analyzed diagnostic samples from 121 patients affected by MN and ten relapse samples from a subset of acute myeloid leukemia patients using two enrichment-capture NGS gene panels. Pathogenicity classification of variants was enhanced by the development and application of a custom onco-hematology score. A total of 278 pathogenic variants were detected in 84% of patients. For structural alterations, 82% of those identified by cytogenetics were detected by NGS, 25 of 31 copy number variants and three out of three translocations. The detection of variants using NGS changed the diagnosis of seven patients and the prognosis of 15 patients and enabled us to identify 44 suitable candidates for clinical trials. Regarding AML, six of the ten relapsed patients lost or gained variants, comparing with diagnostic samples. In conclusion, the use of NGS panels in MN improves genetic characterization of the disease compared with conventional methods, thus demonstrating its potential clinical utility in routine clinical testing. This approach leads to better-adjusted treatments for each patient.

Moldear el cuerpo como práctica de cuidados: el waltha-chumpi (niño-bulto) entre los inmigrantes bolivianos / Molding body as a care practice: waltha-chumpi (bundle child) among bolivian immigrants / Moldando o corpo como uma prática de cuidado: el waltha-chumpi (criança envolvida) entre os imigrantes bolivianos

OBJETIVO: Describir el "chumpi", una práctica de cuidados a niños de hasta un año de edad propia del ámbito cultural quechua. MÉTODO: Diseño cualitativo basado en el método etnográfico y teoría fundamentada. Muestra: 27 inmigrantes bolivianos. Las estrategias para recoger datos fueron las entrevistas en profundidad y la observación participante. Los datos se categorizaron y ordenaron en esquemas lógicos manualmente y a través del programa ATLAS-ti v.5. RESULTADOS: El chumpi facilita el transporte de los recién nacidos y los protege del frío de la cordillera andina mientras la madre los transporta y trabaja, pero descubrimos que esta práctica se sigue desarrollando por inmigrantes bolivianos en el Sureste de España. Discusión y CONCLUSIONES: Motivaciones relacionadas con la cosmovisión quechua llevan a las mujeres bolivianas a seguir practicando el chumpi en los países a los que emigran. El chumpi moldea el cuerpo y el carácter del lactante de forma que un niño envuelto fuerte será fuerte. El chumpi, una práctica de cuidados, se convierte en una práctica cultural identitaria que puede generar situaciones conflictivas en el ámbito sanitario

OBJECTIVE: To analyze el chumpi, a Quechua baby body care cultural practice during the first year of life. METHOD: Qualitative study based on ethnography and grounded theory procedures. Muestra: 27 inmigrantes bolivianos. Las estrategias para recoger datos fueron las entrevistas en profundidad y la observación participante. Los datos se categorizaron y ordenaron en esquemas lógicos manualmente y a través del programa ATLAS-ti v.5. RESULTS: El chumpi makes newborns transport easier and protects them from the cold of the Andean region while being carried by their working mothers. However, we found that this practice remains among Bolivian immigrants in southeast Spain. CONCLUSIONS: Quechua worldview motivations lead Bolivian women to continue practising el chumpi in destination countries. El chumpi molds the body and the character of the infant so that a strongly wrapped child will be strong. El chumpi, a practice of care, becomes a cultural identity sign. El chumpi generates controversial situations within the health sphere

OBJETIVO: Analisar o chumpi, uma prática cultural de cuidado corporal do bebê Quechua durante o primeiro ano de vida. MÉTODO: Estudo qualitativo baseado em procedimentos de etnografia e teoria fundamentada. Amostra: 27 imigrantes bolivianos. As estratégias para coletar os dados foram entrevistas em profundidade e observação participante. Os dados foram categorizados e ordenados em esquemas lógicos manualmente e através do programa ATLAS-ti v.5. RESULTADOS: O chumpi facilita o transporte de recém-nascidos e protege-os do frio da região andina enquanto são transportados por suas mães trabalhadoras. No entanto, descobrimos que essa prática é mantida entre os imigrantes bolivianos no sudeste da Espanha. CONCLUSÕES: As motivações da visão de mundo quechua levam as mulheres bolivianas a continuar praticando o chumpi nos países de destino. O chumpi molda o corpo e o caráter do bebê, de modo que uma criança bem embrulhada é forte. O chumpi, uma prática de cuidado, torna-se um sinal de identidade cultural. O chumpi gera situações controversas dentro da esfera da saúde

Donor Cell-Derived Hematologic Neoplasms after Hematopoietic Stem Cell Transplantation: A Systematic Review.

Development of de novo hematologic malignancies in donor cells after allogeneic stem cell transplantation (allo-SCT) provides a useful in vivo model to study the process of leukemogenesis. A systematic analysis of the cases reported in the literature was performed to identify risk factors and mechanisms involved in the pathogenesis of donor cell-derived hematologic neoplasms (DCHN) and leukemogenic transformation. Relevant data were extracted from 137 cases. Cases of DCHN show a wide heterogeneity with regard to recipient/donor age, sex mismatch, and conditioning regimen. Some characteristics, such as the type of primary disease, the type of hematologic malignancy of the DCHN, and the stem cell source used in the transplant procedure, differ from those expected. Mechanisms involved in the pathogenesis of DCHN are complex, and several hypotheses have been proposed, such as pre-existing hematologic neoplasms or premalignant clones in the donor, decreased immune surveillance, and damage to bone marrow microenvironment in the recipient. Most likely several if not all these mechanisms play a role in DCHN development. Novel approaches, such as next-generation sequencing to study consecutive samples after allo-SCT in these patients, appear to be promising to decipher the mechanisms of leukemogenesis.

Influencia de la infusión contínua de insulina subcutánea en el control de la diabetes tipo 1 en niños / Influence of continuous subcutaneous insulin infusion in the control of type 1 diabetes in children

La diabetes mellitus tipo 1 es la enfermedad crónica endocrinológica más frecuente en la edad pediátrica. El autocuidado y el conocimiento sobre la enfermedad están relacionados con la reducción en costes en salud y con una mejora en la calidad de vida. La bomba de infusión s continua de insulina subcutánea (ICIS) imita la fisiología normal y elimina la necesidad de inyecciones repetidas, quedando por determinar si este tratamiento favorece el autocontrol de la diabetes. Material y Métodos: Estudio de Cohortes retrospectivo.La recogida de datos se realiza a través de un cuestionario basado en los NOC «Conocimiento: control de la diabetes» y «Autocontrol diabetes» a todos los niños con ICIS del área II de salud de la Región de Murcia, así como a sus homólogos de inyecciones múltiples. Para la determinación de resultados se utilizó el programa estadístico SPSS v.21. Resultados: Los sujetos del estudio tienen una edad media de 11 años, siendo 60% hombres y el 40% mujeres. No se obtuvieron diferencias estadísticamente significativas con respecto al nivel de conocimientos, autocontrol y valores de HbA1c entre el grupo de expuestos (ICIS) y no expuestos (inyecciones múltiples), excepto en el siguimiento de la dieta, donde si se obtuvo relación con el tratamiento con ICIS (p=0.037) . La edad también se relacionó con un aumento en los conocimientos (p=0.001). Conclusión: Las unidades familiares con menores de 7 años con inyecciones múltiples, deberán tener una formación más intensa sobre todo dirigida a disminuir la ansiedad y dudas de los padres (AU)

Diabetes mellitus type 1 is the most frequent endocrinological chronic disease during childhood. Self-care and the knowledge about this disease are the facts that are directly related to the reduction of health costs as well as the improvement of the life quality. The continuous subcutaneous insulin infusion pump (CSII) emulates the normal physiology and eliminates the need of continuous injections, remaining to determinate if this treatment contributes positively to the self-control of the diabetes. Didactic Materials and Methods: Retrospective cohort study. The data collection is made by a survey based on the NOC’s «Conocimiento: control de la diabetes» (Knowledge: diabetes control) and «Autocontrol diabetes» (Diabetes self-care) of all the children with continuous subcutaneous insulin infusion pump (CSII) at the health area number 2 from the Region of Murcia, as well as to their homologous with multiple injection. To draw the results, the statistic program SPSS v21, was the one used. Results: The study subjects have an average age of 11 years, being the 60% male and 40% female. Statistical significance was not obtained concerning to the level of knowledge, self-control and HbA1c values between the exposed group (CSII) and nonexposed group (multiple injection), except for the diet monitoring, where there was obtained a connection with the CSII treatment (p=0.037). The age was also related to a knowledge increasement (p=0.001). Conclusion: Households units with children under 7 years with multiple injections should have a more intense training in order to reduce the anxiety and doubts of the parents (AU)