Effectiveness of the Maudsley Model of Anorexia Nervosa Treatment for Adults: A systematic review.

BACKGROUND: Maudsley Model of Anorexia nervosa (AN) Treatment for Adults (MANTRA) is recommended by NICE for the treatment of adults with AN. However, despite this fact, the approach remains relatively understudied. The aim of this study was to systematically update the research evidence regarding the use of the MANTRA in the treatment of Eating Disorders (ED). METHOD: The databases used were Web of Science, Scopus, and PsycInfo, including studies up to 31 May 2023. PRISMA guidelines were followed, and Cochrane tools were used to assess the risk of bias. The search focused on identifying published articles that discussed the usefulness of MANTRA as a component of treatment for ED, following PICO criteria. RESULTS: Nine studies spanning the period from 2011 to 2023 were included. Findings suggested that MANTRA was effective in improving body mass index (BMI), eating symptomatology and emotional state. There were generally no significant differences compared to other treatment conditions. Limitations to interpreting this systematic review include the methodological quality of included studies and the elevated risk of bias. CONCLUSIONS: This review was the first to examine the effectiveness of MANTRA. The results indicate that MANTRA has shown effectiveness similar to other treatments for adults AN patients in addressing key clinical variables. It has been used in different populations (adolescents, males, inpatients) and formats (group, online) However, more research is needed to determine its effectiveness.

Green extraction techniques from fruit and vegetable waste to obtain bioactive compounds-A review.

Food wastes imply significant greenhouse gas emissions, that increase the challenge of climate change and impact food security. According to FAO (2019), one of the main food wastes come from fruit and vegetables, representing 0.5 billion tons per year, of the 1.3 billion tons of total waste. The wastes obtained from fruit and vegetables have plenty of valuable components, known as bioactive compounds, with many properties that impact positively in human health. Some bioactive compounds hold antioxidant, anti-inflammatory, and anti-cancer properties and they have the capacity of modulating metabolic processes. Currently, the use of fruit and vegetable waste is studied to obtain bioactive compounds, through non-conventional techniques, also known as green extraction techniques. These extraction techniques report higher yields, reduce the use of solvents, employ less extraction time, and improve the efficiency of the process for obtaining bioactive compounds. Once extracted, these compounds can be used in the cosmetic, pharmaceutical, or food industry, the last one being focused on improving food quality.

Factor H Competitor Generated by Gene Conversion Events Associates with Atypical Hemolytic Uremic Syndrome.

Atypical hemolytic uremic syndrome (aHUS), a rare form of thrombotic microangiopathy caused by complement pathogenic variants, mainly affects the kidney microvasculature. A retrospective genetic analysis in our aHUS cohort (n=513) using multiple ligation probe amplification uncovered nine unrelated patients carrying a genetic abnormality in the complement factor H related 1 gene (CFHR1) that originates by recurrent gene conversion events between the CFH and CFHR1 genes. The novel CFHR1 mutants encode an FHR-1 protein with two amino acid substitutions, L290S and A296V, converting the FHR-1 C terminus into that of factor H (FH). Next-generation massive-parallel DNA sequencing (NGS) analysis did not detect these genetic abnormalities. In addition to the CFHR1 mutant, six patients carried the previously uncharacterized CFH-411T variant. In functional analyses, the mutant FHR-1 protein strongly competed the binding of FH to cell surfaces, impairing complement regulation, whereas the CFH-411T polymorphism lacked functional consequences. Carriers of the CFHR1 mutation presented with severe aHUS during adulthood; 57% of affected women in this cohort presented during the postpartum period. Analyses in patients and unaffected carriers showed that FH plasma levels determined by the nonmutated chromosome modulate disease penetrance. Crucially, in the activated endothelial (HMEC-1) cell assay, reduced FH plasma levels produced by the nonmutated chromosome correlated inversely with impairment of complement regulation, measured as C5b-9 deposition. Our data advance understanding of the genetic complexities underlying aHUS, illustrate the importance of performing functional analysis, and support the use of complementary assays to disclose genetic abnormalities not revealed by current NGS analysis.

Complete functional characterization of disease-associated genetic variants in the complement factor H gene.

Genetic analyses in atypical hemolytic uremic syndrome (aHUS) and C3-glomerulopathy (C3G) patients have provided an excellent understanding of the genetic component of the disease and informed genotype-phenotype correlations supporting an individualized approach to patient management and treatment. In this context, a correct categorization of the disease-associated gene variants is critical to avoid detrimental consequences for patients and their relatives. Here we describe a comprehensive procedure to measure levels and functional activity of complement regulator factor H (FH) encoded by CFH, the commonest genetic factor associated with aHUS and C3G, and present the results of the analysis of 28 uncharacterized, disease-associated, FH variants. Sixteen variants were not expressed in plasma and eight had significantly reduced functional activities that impact on complement regulation. In total, 24 of 28 CFH variants were unambiguously categorized as pathogenic and the nature of the pathogenicity fully documented for each. The data also reinforce the genotype-phenotype correlations that associate specific FH functional alterations with either aHUS or C3G and illustrate important drawbacks of the prediction algorithms dealing with variants located in FH functional regions. We also report that the novel aHUS-associated M823T variant is functionally impaired. This was unexpected and uncovered the important contribution of regions outside the N-terminal and C-terminal functional domains to FH regulatory activities on surfaces. Thus, our work significantly advances knowledge towards a complete functional understanding of the CFH genetic variability and highlights the importance of functional analysis of the disease-associated CFH variants.

A genomic case study of desmoplastic small round cell tumor: comprehensive analysis reveals insights into potential therapeutic targets and development of a monitoring tool for a rare and aggressive disease.

BACKGROUND: Genome-wide profiling of rare tumors is crucial for improvement of diagnosis, treatment, and, consequently, achieving better outcomes. Desmoplastic small round cell tumor (DSRCT) is a rare type of sarcoma arising from mesenchymal cells of abdominal peritoneum that usually develops in male adolescents and young adults. A specific translocation, t(11;22)(p13;q12), resulting in EWS and WT1 gene fusion is the only recurrent molecular hallmark and no other genetic factor has been associated to this aggressive tumor. Here, we present a comprehensive genomic profiling of one DSRCT affecting a 26-year-old male, who achieved an excellent outcome. METHODS: We investigated somatic and germline variants through whole-exome sequencing using a family based approach and, by array CGH, we explored the occurrence of genomic imbalances. Additionally, we performed mate-paired whole-genome sequencing for defining the specific breakpoint of the EWS-WT1 translocation, allowing us to develop a personalized tumor marker for monitoring the patient by liquid biopsy. RESULTS: We identified genetic variants leading to protein alterations including 12 somatic and 14 germline events (11 germline compound heterozygous mutations and 3 rare homozygous polymorphisms) affecting genes predominantly involved in mesenchymal cell differentiation pathways. Regarding copy number alterations (CNA) few events were detected, mainly restricted to gains in chromosomes 5 and 18 and losses at 11p, 13q, and 22q. The deletions at 11p and 22q indicated the presence of the classic translocation, t(11;22)(p13;q12). In addition, the mapping of the specific genomic breakpoint of the EWS-WT1 gene fusion allowed the design of a personalized biomarker for assessing circulating tumor DNA (ctDNA) in plasma during patient follow-up. This biomarker has been used in four post-treatment blood samples, 3 years after surgery, and no trace of EWS-WT1 gene fusion was detected, in accordance with imaging tests showing no evidence of disease and with the good general health status of the patient. CONCLUSIONS: Overall, our findings revealed genes with potential to be associated with risk assessment and tumorigenesis of this rare type of sarcoma. Additionally, we established a liquid biopsy approach for monitoring patient follow-up based on genomic information that can be similarly adopted for patients diagnosed with a rare tumor.

A Selected Reaction Monitoring Mass Spectrometry Protocol for Validation of Proteomic Biomarker Candidates in Studies of Psychiatric Disorders.

Most biomarker candidates arising from proteomic studies of psychiatric disorders have not progressed for use in clinical studies due to insufficient validation steps. Here we describe a selective reaction monitoring mass spectrometry (SRM-MS) approach that could be used as a follow-up validation tool of proteins identified in blood serum or plasma. This protocol specifically covers the stages of peptide selection and optimization. The increasing application of SRM-MS should enable fast, sensitive, and robust methods with the potential for use in clinical studies involving sampling of serum or plasma. Understanding the molecular mechanisms and identifying potential biomarkers for risk assessment, diagnosis, prognosis, and prediction of drug response goes toward the implementation of translational medicine strategies for improved treatment of patients with psychiatric disorders and other debilitating diseases.

Identifying Biomarker Candidates in the Blood Plasma or Serum Proteome.

Brain disorders are among the most complex and difficult to understand of human disorders in terms of pathophysiology and etiology. Differently from other human diseases such as cancer, which uses biomarkers in clinical practice, there are no prognostic and diagnostic biomarkers available for psychiatric disorders. Those associated with the likelihood of a successful medication are also not existent, impairing treatment strategies. Proteomics is a suitable tool for identifying such biomarkers to be validated and further implemented in the clinic. Here we present a protocol for the proteome analyses of blood plasma and serum collected in vivo, aiming for the discovery of potential biomarkers and the comprehension of the molecular bases of diseases and treatments.

Molecular confinement of human amylin in lipidic nanoparticles.

Amylin is a pancreatic hormone involved in the regulation of glucose metabolism and homeostasis. Restoration of the post-prandial and basal levels of human amylin in diabetic individuals is a key in controlling glycemia, controlling glucagon, reducing the insulin dose and increasing satiety, among other physiologic functions. Human amylin has a high propensity to aggregate. We have addressed this issue by designing a liposomal human amylin formulation. Nanoparticles of multilamellar liposomes comprising human amylin were obtained with 53% encapsulation efficiency. The in vitro kinetic release assay shows a biphasic profile. The stabilization of the lipidic nanoparticle against freeze-drying was achieved by using mannitol as a cryoprotectant, as evidenced by morphological characterization. The effectiveness of the human amylin entrapped in lipidic nanoparticles was tested by the measurement of its pharmacological effect in vivo after subcutaneous administration in mice. Collectively these results demonstrate the compatibility of human amylin with the lipidic interface as an effective pharmaceutical delivery system.

Ketoconazole as second-line treatment for Cushing's disease after transsphenoidal surgery: systematic review and meta-analysis.

Introduction: The first-line treatment for Cushing's disease is transsphenoidal surgery for pituitary tumor resection. Ketoconazole has been used as a second-line drug despite limited data on its safety and efficacy for this purpose. The objective of this meta-analysis was to analyze hypercortisolism control in patients who used ketoconazole as a second-line treatment after transsphenoidal surgery, in addition to other clinical and laboratory criteria that could be related to therapeutic response. Methods: We searched for articles that evaluated ketoconazole use in Cushing's disease after transsphenoidal surgery. The search strategies were applied to MEDLINE, EMBASE, and SciELO. Independent reviewers assessed study eligibility and quality and extracted data on hypercortisolism control and related variables such as therapeutic dose, time, and urinary cortisol levels. Results: After applying the exclusion criteria, 10 articles (one prospective and nine retrospective studies, totaling 270 patients) were included for complete data analysis. We found no publication bias regarding reported biochemical control or no biochemical control (p = 0.06 and p = 0.42 respectively). Of 270 patients, biochemical control of hypercortisolism occurred in 151 (63%, 95% CI 50-74%) and no biochemical control occurred in 61 (20%, 95% CI 10-35%). According to the meta-regression, neither the final dose, treatment duration, nor initial serum cortisol levels were associated with biochemical control of hypercortisolism. Conclusion: Ketoconazole can be considered a safe and efficacious option for Cushing's disease treatment after pituitary surgery. Systematic review registration: https://www.crd.york.ac.uk/prospero/#searchadvanced, (CRD42022308041).

Work preferences and Animal Welfare Perception of Veterinary Medicine and Animal Science Students in Northeastern Mexico.

Veterinary medicine and animal science (VMAS) students coexist in asocial, geographic, and economic context that influences personal and career decisions. The goal of this study was to analyze students' perceptions of Animal Welfare (AW) and World Organization for Animal Health (OIE) topics by gender, religion, and stage of study at the school of veterinary medicine in the northeastern Mexican border area. Survey response rate was 60% of VMAS student enrollment, which was divided in basic, intermediate, and advanced academic levels. Student respondents reported animal production followed by animals for companionship and wildlife appreciation as their job placement expectations after graduation. Students in the basic training stage rated AW in general practice to be more important compared with those in intermediate and advanced training (p < 0.005). Compared with intermediate and advanced level students, students at the basic level considered bioethics, sustainable food production, and OIE animal welfare topics more important (p < 0.05). Regarding gender differences, compared with male students, their female counterparts rated AW more important, depending on areas of work practice and OIE topics (p < 0.05).

Precipitating factors of diabetic ketoacidosis in type 1 diabetes patients at a tertiary hospital: a cross-sectional study with a two-time-period comparison.

Objective: To evaluate the precipitating factors of diabetic ketoacidosis (DKA) in patients with type 1 diabetes hospitalized through the emergency department of a tertiary hospital. Materials and methods: Individuals with type 1 diabetes hospitalized for DKA from January 2005 to March 2010 (first period [P1], n = 75) and from April 2010 to January 2017 (second period [P2], n = 97) were identified through a query of electronic medical records. Data were collected by reviewing medical records. Only the first hospitalization of each participant in each period was included. Results: In P2, 44 patients (45.4%) were women, mean age was 26.2 ± 14.5 years, and 74 patients (76.3%) had a previous diagnosis of type 1 diabetes. Only 1 patient had glycated haemoglobin (HbA1c) below 64 mmol/mol (8.0%). Most patients (62.2%) had had a previous episode of DKA. In P1, non-adherence was the main cause of DKA (38.7%), followed by infection (24.0%). In P2, these rates were 34.0% and 24.7%, respectively; no statistical difference was observed between the two study periods (p = 0.790). Conclusion: Over time, non-adherence remained the main precipitating factor of DKA, followed by infection, and no significant difference was observed between the two study periods. Elevated HbA1c, outside the therapeutic range, indicates suboptimal diabetes care and may explain, at least in part, poor adherence as a precipitating factor of decompensation. Health strategies, such as improved self-management of type 1 diabetes, may contribute to a future reduction in DKA episodes.

Optimization of Care for Adult Outpatients With Type 2 Diabetes Through the Diabetes Self-Management Multidisciplinary Program: A Randomized Clinical Trial.

OBJECTIVES: Our aim in this study was to evaluate the efficacy of a Self-Management Multidisciplinary Program (MP) on glycemic management, quality of life and diabetes self-care activities. METHODS: People with type 2 diabetes and glycated hemoglobin (A1C) of >7.5% were randomized to participate in the MP or to usual care (UC). The MP consisted of face-to-face meetings with each health-care provider (nurse, pharmacist, dietitian, physical educator and social worker) to approach diabetes self-management issues. MP topics were tailored toward local habits and culture. Three different modules were offered over 12 weeks. The primary outcome was change in A1C from baseline to 12 months. Diabetes Quality of Life and Summary of Diabetes Self-Care Activities questionnaires were assessed at baseline and at 6 and 12 months. RESULTS: Ninety-six participants were included (mean 59 years of age, 60% women, diabetes duration 16±10 years, 62% of lower middle/low socioeconomic status). Change in A1C at 12 months (UC: 0.52% [95% confidence interval, -1.07 to 0.04]; MP: -0.30% [95% confidence interval, -1.05 to 0.44]; p=0.33) was not different between the groups. There was an increase in satisfaction and a reduction in worry about future effects of diabetes in the MP group, which was not found in the UC group. CONCLUSIONS: A short-term self-management multidisciplinary program improved diabetes-related quality of life but failed to reduce A1C in individuals with longstanding type 2 diabetes and a low socioeconomic status.

Parvovirus among patients with cytopenia of unknown origin in Brazil: a case-control study.

The molecular prevalence of human parvovirus B19V (B19V) in bone marrow (BM) samples from 120 cases with cytopenias of unknown etiology was compared with that in samples from 45 BM donors (control group 1) and 120 oncohematological patients (control group 2) to determine the role that B19V genotypes may play in unexplained cytopenias. Of the 285 participants, the BM samples of 39 (13.7%) contained B19V DNA (21 with genotype 1, 5 with genotype 2, and 13 with genotype 3). The prevalences of B19V were similar between case and control subjects (15.0% versus 12.7%, respectively). Genotypes 2 and 3 were associated with older age and were detected in similar proportions between case and control group 2 subjects. The results of this study do not support a role for B19V genotype variants in the etiology of unexplained cytopenias.

Blind randomized controlled study of the efficacy of cognitive training in Parkinson's disease.

The aim of this study was to analyze the efficacy of a cognitive training program on cognitive performance and quality of life in nondemented Parkinson's disease patients. Participants who met UK Brain Bank diagnosis criteria for Parkinson's disease, with I-III Hoehn & Yahr, aged 50-80, and nondemented (Mini-Mental State Examination ≥ 23) were recruited. Patient's cognitive performance and functional and quality-of-life measures were assessed with standardized neuropsychological tests and scales at baseline and after 4 weeks. Subjects were randomly and blindly allocated by age and premorbid intelligence (Vocabulary, Wechsler Adult Intelligence Scale-III) into 2 groups: an experimental group and a control group. The experimental group received 4 weeks of 3 weekly 45-minute sessions using multimedia software and paper-and-pencil cognitive exercises, and the control group received speech therapy. A total of 28 patients were analyzed. Compared with the control group participants (n = 12), the experimental group participants (n = 16) demonstrated improved performance in tests of attention, information processing speed, memory, visuospatial and visuoconstructive abilities, semantic verbal fluency, and executive functions. There were no observable benefits in self-reported quality of life or cognitive difficulties in activities of daily living. We concluded that intensive cognitive training may be a useful tool in the management of cognitive functions in Parkinson's disease. © 2011 Movement Disorder Society.

Diabetes-Specific Questionnaires Validated in Brazilian Portuguese: A Systematic Review.

Two researchers conducted independent searches on five different electronic databases: PubMed/MEDLINE, Embase, SciELO, LiLACS and Web of Science. Studies were selected that covered cross-cultural adaptation methodology and validation in Brazil with type 1 and type 2 diabetes patients of any age. After reading the full-text articles, data related to psychometric characteristics were extracted from each study selected. Reliability was assessed with Cronbach's α (Cα). The initial searches identified 2,211 studies. After exclusions, 26 were included, covering a total of 31 questionnaires. Questionnaires were grouped into 11 domains based on their main focus of interest: adherence (n = 8), quality of life (n = 7), diabetes knowledge (n = 3), hypoglycemia (n = 3), self-efficacy (n = 3), satisfaction with pharmaceutical services (n = 1), emotional stress (n = 2), hope (n = 1), attitude towards diabetes (n = 1), perception of disease severity (n=1), and risk of developing diabetes (n = 1). This study identified and reviewed all of the diabetes-specific questionnaires that have been validated for Brazilian Portuguese, which should facilitate selection of the most appropriate instrument for each domain of interest in future research and clinical settings.

Synchronization of stage of follicle development before OPU improves embryo production in cows with large antral follicle counts.

In the present study, there was an evaluation of in vitro embryo production (IVEP) in Bos indicus donor cows with small or large antral follicle counts (AFCs) when there was synchronization of follicular dynamics among cows before ovum pick-up (OPU). Donor cows classified as having small or large AFC were submitted to OPU/IVEP program (Experiment-I) or had follicular-stage synchronization imposed before OPU/IVEP (Experiment-II). In Experiment-I, the cows with a large AFC had a greater (P < 0.01) mean of embryos developing to the blastocyst stage compared to those with a small AFC. In Experiment-II, percentage of viable oocytes/OPU were not affected (P = 0.33) by synchronization of follicular dynamics, but the AFC had an effect (P < 0.0001). There was an interaction (P = 0.01) indicating the larger AFC, with or without imposing of a synchronization treatment regimen, resulted in the most desirable outcome. The number of embryos was affected (P < 0.001) by follicular-stage synchronization and AFC, with there being an interaction (P = 0.002) with the most desirable results for the large AFC-synchronized group. Number of pregnancies was greater (P ≤ 0.02) for recipient females with embryos from synchronized donors and with a large AFC. There was an interaction (P = 0.03) with there being a greater pregnancy percentage for cows with synchronized follicular stages and the large AFC. Bos indicus donor with a large AFC when associated with the synchronization of stage of follicular dynamics pre-OPU results in improvement of the efficacy of IVEP.

Response to methylphenidate in children and adolescents with ADHD: does comorbid anxiety disorders matters?

There are controversial evidence in the literature on the role of comorbid anxiety disorders (ANX) in the improvement of attention-deficit/hyperactivity disorder (ADHD) symptoms with methylphenidate (MPH) treatment. Our main objective was to assess differences in the response to MPH treatment in children and adolescents with ADHD with and without comorbid ANX. We extensively evaluated response to MPH in a naturalistic study of 280 children and adolescent with ADHD according to DSM-IV criteria. Psychiatric diagnoses (ADHD, ANX, and other comorbidities) were assessed by semi-structured interviews (K-SADS-E). Response to MPH was assessed by means of total score in the Swanson, Nolan, and Pelham Scale-version IV (SNAP-IV) after 1 month of treatment. There was no significant between-group difference in the response to treatment with MPH after 1 month either when SNAP-IV scores were assessed dimensionally or categorically (moderate response) (P > 0.05). Our findings suggest that comorbid ANX do not interfere in the response to MPH on core ADHD symptoms.

Biomarcadores genéticos de la leucemia linfoide aguda de linaje B / Genetic biomarkers of B - cell acute lymphoid leukemia

Introducción: La leucemia linfoide aguda es una proliferación y transformación maligna de las células progenitoras linfoides en la médula ósea, la sangre y los sitios extramedulares. Es la neoplasia más frecuente en la infancia. Constituye el 80 % de todas las leucemias agudas de la edad pediátrica y la más frecuente de las que se originan a partir del linaje de células B. Desde el punto de vista genético se presentan múltiples alteraciones moleculares y cromosómicas que son utilizadas para la estratificación pronóstica. Objetivo: Describir los biomarcadores genéticos de la leucemia linfoide aguda de linaje B y su implicación pronóstica. Métodos: Se realizó una revisión de la literatura en los idiomas inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos cinco años. Se efectuaron un análisis y resumen de la bibliografía revisada. Conclusiones: En la leucemia linfoide aguda de linaje B se detectan múltiples alteraciones citogenéticas como las traslocaciones t(9;22) y la t(12;21), rearreglos en 11q23 que generan genes de fusión, así como otras aberraciones cromosómicas y mutaciones génicas. Este espectro genético involucra genes que participan en el desarrollo de las células linfoides y en la regulación del ciclo celular. El conocimiento de su biología, a partir del estudio de las alteraciones genéticas como biomarcadores predictivos, permite la estratificación de la leucemia linfoide aguda y la aplicación de tratamientos más personalizados para evitar recaídas.

Introduction: Acute lymphoid leukemia is a proliferation and malignant transformation of lymphoid progenitor cells in the bone marrow, blood and extramedullary sites. It is the most common neoplasm in childhood; it constitutes 80% of all acute leukemias in children; and the most frequent of those that originate from the B cell lineage. From the genetic point of view, there are multiple molecular and chromosomal alterations. Objective: To describe the genetic biomarkers of the disease and its prognostic implication. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine of Google Scholar, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Conclusions: In acute lymphoid leukemia, multiple cytogenetic alterations are detected, such as translocation t(9;22), t(12;21), rearrangements in 11q23 that generate fusions genes as well as other chromosomal aberrations and gene mutation. This genetic spectrum involves genes that participate in the development of lymphoid cells and in the regulation of the cell cycle. Knowledge of its biology, based on the study of genetic alterations as predictive biomarkers, allows the stratification of Acute lymphoid leukemia and the application of more personalized treatments to avoid relapses.

Aspectos citogenéticos y moleculares en los síndromes mielodisplásicos / Cytogenetic and molecular aspects in myelodysplastic syndromes

Introducción: Los síndromes mielodisplásicos constituyen un grupo heterogéneo de alteraciones de la célula progenitora hematopoyética. Estos se caracterizan por presentar una médula ósea hipercelular, una hematopoyesis inefectiva, displasia y citopenia periférica y la posibilidad de evolución a leucemia mieloide aguda. Objetivo: Describir las alteraciones citogenéticas y moleculares más frecuentes de los síndromes mielodisplásicos. Métodos: Se realizó una revisión de la literatura en los idiomas inglés y español, a través del sitio web PubMed y el motor de búsqueda Google académico, de artículos publicados en los últimos cinco años. Se realizó análisis y resumen de la bibliografía. Análisis y síntesis de la información: En los síndromes mielodisplásicos están presentes alteraciones citogenéticas frecuentes como la deleción de los cromosomas 5q, 7q y 20q, la monosomía del cromosoma 7, la trisomía del cromosoma 8 y la presencia de cariotipos complejos, que, unido a mutaciones somáticas en diferentes genes, intervienen en la patogénesis de la enfermedad y su conocimiento permite la estratificación pronóstica de los pacientes. Conclusiones: El diagnóstico a través de los estudios citogenéticos convencionales, la hibridación in situ por fluorescencia y la secuenciación génica permite una mayor comprensión de la biología de la enfermedad, la estratificación del riesgo y la toma de decisiones terapéuticas(AU)

Introduction: Myelodysplastic syndromes constitute a heterogeneous group of alterations of the hematopoietic progenitor cell, characterized by hypercellular bone marrow, ineffective hematopoietic, dysplasia and peripheral cytopenia; and the possibility of progressing to acute myeloid leukemia. Objective: To describe the most frequent cytogenetic and molecular alterations of myelodysplastic syndromes. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine Google, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Analysis and synthesis of information: In myelodysplastic syndromes, frequent cytogenetic alterations are present such as deletion of chromosomes 5q, 7q and 20q, as well as the monosomy of chromosome 7, trisomy of chromosome 8 and the presence of complex karyotypes, which together with somatic mutations in different genes intervene in the pathogenesis of the disease and allow prognostic stratification of patients. Conclusions: Diagnosis through conventional cytogenetic studies, fluorescence in situ hybridization and gene sequencing allow a better understanding of the biology of the disease, risk stratification and therapeutic decision making(AU)

Técnicas de citogenética para el estudio de las leucemias / Cytogenetic techniques for the study of leukemias

Introducción: La leucemia se define como un proceso clonal de células hematopoyéticas, que se origina cuando las células sanguíneas que se producen en la médula ósea, cambian y se multiplican sin control. Esta se caracteriza por su heterogeneidad genética y se explica a través de mecanismos causados por alteraciones cromosómicas utilizados en la práctica clínica diaria como biomarcadores útiles para el diagnóstico, el pronóstico o la predicción de respuesta al tratamiento. Objetivo: Describir las técnicas de citogenética convencional y molecular para el diagnóstico y seguimiento de las leucemias. Métodos: Se realizó una revisión de la literatura en inglés y español, a través del sitio web PubMed y el motor de búsqueda Google Académico, de artículos publicados en los últimos cinco años. Se hizo un análisis y resumen de la bibliografía revisada. Análisis y síntesis de la información: En el transcurso de los años la citogenética ha proporcionado información crucial para el diagnóstico y el pronóstico de las neoplasias hematológicas. Tanto las técnicas de citogenética convencional y molecular, como la hibridación in situ fluorescente, la hibridación in situ fluorescente multicolor, el cariotipo espectral, la hibridación genómica comparada y los microarreglos, participan en el reconocimiento de alteraciones cromosómicas y de genes, así como de interacciones involucradas en el proceso de oncogénesis. Conclusiones: Las técnicas de citogenética contribuyen al diagnóstico, a la estratificación pronóstica y a la aplicación del tratamiento según el tipo o subtipo de leucemia(AU)

Introduction: Leukemia is defined as a clonal process of hematopoietic cells, which occurs when blood cells that are produced in the bone marrow change and multiply uncontrollably. This is characterized by its genetic heterogeneity and is explained through mechanisms caused by chromosomal alterations that are used in daily clinical practice as useful biomarkers for diagnosis, prognosis or prediction of response to treatment. Objective: To describe the conventional and molecular cytogenetic techniques used for the diagnosis and monitoring of leukemias. Methods: A review of the literature in English and in Spanish was carried out, in the PubMed website and using the search engine Google, for articles published in the last five years. We performed analysis and summary of the reviewed bibliography. Analysis and synthesis of information: Cytogenetics over the years has provided crucial information for the diagnosis and prognosis of hematologic malignancies. Both conventional and molecular cytogenetic techniques such as fluorescent in situ hybridization, multicolor fluorescent in situ hybridization, spectral karyotype, comparative genomic hybridization and microarrays, participate in the recognition of chromosomal and gene alterations, as well as interactions involved in the oncogenesis process. Conclusions: These cytogenetic techniques contribute to the diagnosis, prognostic stratification and application of treatment according to the type or subtype of leukemia(AU)