Investigating level of food security among patients with hypertension and diabetes at a student-run free clinic.

Background: Nutritional recommendations for patients with type 2 diabetes mellitus (T2DM) and hypertension assume high food security. However, food insecurity is estimated to affect 10% of the US population and more so patients at our student-run free clinic (SRFC). The aims of the study were to (1) assess food security in patients with a diagnosis of T2DM, hypertension, or both and (2) examine the relationship between food security and glycated hemoglobin (HbA1C) or blood pressure at an SRFC. Methods: Eligible participants completed a 10-item food security questionnaire and an item addressing perceived barriers. Most recent HbA1C and blood pressure measurements were gathered. Comparisons were made using univariate or multivariate linear regression analysis. Results: Results from 79 participants showed that 25.3% experienced high food security, 29.1% had marginal food security, 13.9% had low food security, and 30.4% had very low food security. No statistically significant association was found between food security category and HbA1C or blood pressure. However, we did find that approximately 73% of patients experienced some degree of food insecurity. Conclusions: Patients at our SRFC are ethnically and racially diverse, most have a high school education or less, and most have food insecurity. No association between food security category and HbA1C or blood pressure control was found. Providers should consider the degree of food insecurity and incorporate a culturally sensitive approach when making nutritional recommendations.

Leveraging cryoablation and checkpoint inhibitors for high-risk triple negative breast cancer.

Breast cancer is the second most common cancer among women in the United States in which the standard of care treatment is surgery with adjunctive therapy. Cryoablation, which destroys the tumor using extremely cold temperatures while preserving the potential tumor antigens, is a promising alternative to surgical resection. It is less invasive, cosmetically appeasing, cost-effective, and capable of contributing to the abscopal effect - the immune response targeting potential distant metastasis. However, to maximize the immunologic benefit of cryoablation in biologically high-risk breast cancers, combination with therapies that enhance immune activation, such as immune checkpoint inhibitors (ICIs) may be necessary. This mini review describes the fundamentals of cryoablation and treatment with ICIs, as well as discuss the caveats in both strategies and current clinical trials aimed to improve this approach to benefit patients.

First report of environmental isolation of Cryptococcus and Cryptococcus-like yeasts from Boyacá, Colombia.

The Cryptococcus genus comprises more than 100 species, of which C. neoformans and C. gattii are the leading cause of cryptococcosis. The distribution of C. gattii and C. neoformans species complexes has been extensively studied and widely reported globally. Other species such as Naganishia albida, Papiliotrema laurentii, and Papiliotrema flavescens have been reported as pathogenic yeasts. Since there are no reports of environmental isolation in the Boyacá region (Colombia), this study aimed to isolate and characterize Cryptococcus and Cryptococcus-like yeasts from pigeon feces, Eucalyptus, and olive trees distributed in the municipalities of Tunja and Ricaute Alto. The environmental data was recovered, and the isolations obtained were identified by microscopy, biochemical test, MALDI-TOF MS, URA5-RFLP, and sequencing of the ITS and LSU loci. For the 93 pigeon dropping samples collected in Tunja, 23 yielded to C. neoformans, 3 to N. globosa, 2 N. albida and 1 to P. laurentii. Of the 1188 samples collected from olive trees, 17 (1.43%) positive samples were identified as C. gattii species complex (4), C. neoformans species complex (2), P. laurentii (3), N. albida (2), N. globosa (5) and P. flavescens (1). Likewise, specimens of C. neoformans presented molecular type VNI and molecular type VNII; for C. gattii the molecular types found were VGIII and one VGIV by URA5-RFLP but VGIII by MALDI-TOF and sequencing of the ITS and LSU. Therefore, it can be concluded that the species of Cryptococcus, Naganishia and Papiliotrema genera, are present in the environment of Boyacá, and show a predilection for climate conditions that are typical of this region.

Dishevelled 2 regulates cancer cell proliferation and T cell mediated immunity in HER2-positive breast cancer.

BACKGROUND: Dishevelled paralogs (DVL1, 2, 3) are key mediators of Wnt pathway playing a role in constitutive oncogenic signaling influencing the tumor microenvironment. While previous studies showed correlation of ß-catenin with T cell gene expression, little is known about the role of DVL2 in modulating tumor immunity. This study aimed to uncover the novel interaction between DVL2 and HER2-positive (HER2+) breast cancer (BC) in regulating tumor immunity and disease progression. METHODS: DVL2 loss of function studies were performed with or without a clinically approved HER2 inhibitor, Neratinib in two different HER2+ BC cell lines. We analyzed RNA (RT-qPCR) and protein (western blot) expression of classic Wnt markers and performed cell proliferation and cell cycle analyses by live cell imaging and flow cytometry, respectively. A pilot study in 24 HER2+ BC patients was performed to dissect the role of DVL2 in tumor immunity. Retrospective chart review on patient records and banked tissue histology were performed. Data were analyzed in SPSS (version 25) and GraphPad Prism (version 7) at a significance p < 0.05. RESULTS: DVL2 regulates the transcription of immune modulatory genes involved in antigen presentation and T cell maintenance. DVL2 loss of function down regulated mRNA expression of Wnt target genes involved in cell proliferation, migration, invasion in HER2+ BC cell lines (±Neratinib). Similarly, live cell proliferation and cell cycle analyses reveal that DVL2 knockdown (±Neratinib) resulted in reduced proliferation, higher growth arrest (G1), limited mitosis (G2/M) compared to non-targeted control in one of the two cell lines used. Analyses on patient tissues who received neoadjuvant chemotherapy (n = 14) further demonstrate that higher DVL2 expression at baseline biopsy pose a significant negative correlation with % CD8α levels (r = - 0.67, p < 0.05) while have a positive correlation with NLR (r = 0.58, p < 0.05), where high NLR denotes worse cancer prognosis. These results from our pilot study reveal interesting roles of DVL2 proteins in regulating tumor immune microenvironment and clinical predictors of survival in HER2+ BC. CONCLUSION: Our study demonstrates potential immune regulatory role of DVL2 proteins in HER2+ BC. More in-depth mechanistic studies of DVL paralogs and their influence on anti-tumor immunity may provide insight into DVLs as potential therapeutic targets benefiting BC patients.

Turner syndrome associated with Down syndrome: about a case / Síndrome Turner asociado a síndrome Down: a propósito de un caso

The coexistence of double aneuploidy of Down and Turner syndromes is rare; most cases have been due to double mitotic errors. The objective of the study was to report a case with monosomy of the X chromosome and trisomy of chromosome 21, in mosaic variety, highlighting the phenotypic effect that the presence of different chromosomal abnormalities can produce and compare with those reported in the literature. A 10-year-old Ecuadorian female, born to a multipregnant mother with 46 years at conception, is seen in consultation with a predominant clinical phenotype of Down syndrome, associated with menarche, presence of pubic and axillary villu, where a karyotype is verified 45 X[7]/47XX+ 21 [3]/46, X, der (X)(: p11.1-> q11.1)[1]/46,XX [1]. The present case is a double Turner-Down aneuploidy, with predominantly X monosomy cell line, who shows important mental retardation and some signs of puberal development not usually in Turner syndrome. These features highlight the clinical importance of doing a karyotype in mental retardation cases and searching low mosaics of another aneuploidies in atypical cases. Its complex chromosomal formula and support with molecular cytogenetics allowed diagnostic confirmation and genetic counseling.

La coexistencia de doble aneuploidía de los síndromes de Down y Turner es rara; la mayoría de los casos se han debido a dobles errores mitóticos. Reportar un caso con trisomía del cromosoma 21 y monosomía del cromosoma en X, en variedad mosaico, que curiosamente presenta un despertar puberal precoz y comparar con los reportados en la literatura. Paciente ecuatoriana de sexo femenino, de 10 años de edad, nacida de madre multigesta con 46 años a la concepción, que es vista en consulta con fenotipo clínico predominante de Síndrome Down, asociado a menarquia y telarquia, donde se constata un cariotipo. El presente caso es el primero informado de mosaicismo de doble aneuploidía de Turner-Down asociado con un despertar puberal precoz. Su fórmula cromosómica compleja y el apoyo con la citogenética molecular permitió la confirmación diagnostica y la asesoría genética.

Comparison of Four Real-Time Polymerase Chain Reaction Assays for the Detection of SARS-CoV-2 in Respiratory Samples from Tunja, Boyacá, Colombia.

Coronavirus disease (COVID-19) is an infectious disease caused by SARS-CoV-2. In Colombia, many commercial methods are now available to perform the RT-qPCR assays, and laboratories must evaluate their diagnostic accuracy to ensure reliable results for patients suspected of being positive for COVID-19. The purpose of this study was to compare four commercial RT-qPCR assays with respect to their ability to detect the SARS-CoV2 virus from nasopharyngeal swab samples referred to Laboratorio Carvajal IPS, SAS in Tunja, Boyacá, Colombia. We utilized 152 respiratory tract samples (Nasopharyngeal Swabs) from patients suspected of having SARS-CoV-2. The diagnostic accuracy of GeneFinderTM COVID-19 Plus RealAmp (In Vitro Diagnostics) (GF-TM), One-Step Real-Time RT-PCR (Vitro Master Diagnostica) (O-S RT-qPCR), and the Berlin modified protocol (BM) were assessed using the gold-standard Berlin protocol (Berlin Charité Probe One-Step RT-qPCR Kit, New England Biolabs) (BR) as a reference. Operational characteristics were estimated in terms of sensitivity, specificity, agreement, and predictive values. Using the gold-standard BR as a reference, the sensitivity/specificity of the diagnostic tests was found to be 100%/92.7% for GF-TM, 92.75%/67.47% for O-S RT-qPCR, and 100%/96.39% for the BM protocol. Using BR as a reference, the sensitivity/specificity for the diagnostic tests were found to be 100%/92.7% for the GF-TM assay, 92.72%/67.47% for the O-S RT-qPCR, and 100%/96.39% for BM. Relative to the BR reference protocol, the GF-TM and BM RT-PCR assays obtained similar results (k = 0.92 and k = 0.96, respectively), whereas the results obtained by O-S-RT-qPCR were only moderately similar. We conclude that the GF-TM and BM protocols offer the best sensitivity and specificity, with similar results in comparison to the gold-standard BR protocol. We recommend evaluating the diagnostic accuracy of the OS-RT-qPCR protocol in future studies with a larger number of samples.

Variantes citogenéticas en pacientes con síndrome de Turner diagnosticadas en un hospital de tercer nivel de atención en Ecuador / Cytogenetic variants in patients with Turner syndrome diagnosed in a third level care hospital in Ecuador

Resumen Introducción: El Síndrome de Turner (ST) es una alteración cromosómica sexual causada por la ausencia parcial o completa del cromosoma X, además de mosaicismos y otras alteraciones estructurales del cromosoma X o Y; está presente en 1 de 2500 nacidas vivas. Objetivo: Describir las variantes citogenéticas de pacientes con síndrome de Turner y evaluar su asociación con el fenotipo de presentación y la edad del diagnóstico. Método: Estudio retrospectivo de corte transversal de una serie de 82 casos de síndrome de Turner. Los cariotipos fueron realizados utilizando el medio RPMI-1640; las preparaciones de cromosomas se obtuvieron utilizando técnicas estándar y se analizaron mediante bandas GTG con una resolución de 400-450 bandas, donde se contó con 20-50 metafases para reducir la probabilidad de no detección de mosaicismo. Resultados: 45 (55.6%) fueron diagnosticadas, con monosomía clásica del cromosoma X, mientras 29 (35,8%) mostraron anomalías estructurales del cromosoma X y 7 (8,6%) se asociaron a mosaicos numéricos del cromosoma X. Solo 21 (26%) pacientes fueron diagnosticadas por debajo de los 12 años, mientras el resto 60 (74%) se detectaron entre la adolescencia y la adultez. La baja estatura fue una característica universal en todos los grupos de estudio. Conclusiones: Las fórmulas cromosómicas en el síndrome de Turner pueden ser muy variadas y tener diversas implicaciones en el fenotipo; se destaca la baja talla como un criterio clínico relevante en la sospecha clínica.

Abstract Introduction: Turner Syndrome (TS) is a sexual chromosomal alteration caused by the partial or complete absence of the X chromosome, in addition to mosaicisms and other structural alterations of the X or Y chromosome; It is present in 1 in 2,500 live births. Objective: To describe the cytogenetic variants of Turner syndrome patients and to evaluate their association with the phenotype at presentation and age at diagnosis. Methods: Retrospective cross-sectional study of a series of 82 cases of Turner syndrome. Karyotypes were performed using RPMI-1640 medium; Chromosome preparations were obtained using standard techniques and analyzed by GTG banding with a resolution of 400-450 bands where 20-50 metaphases were counted to reduce the probability of missing mosaicism. Results: 45 (55.6%) were diagnosed with classic monosomy of the X chromosome, while 29 (35.8%) showed structural abnormalities of the X chromosome and 7 (8.6%) were associated with numerical mosaics of the X chromosome. Only 21 (26%) patients were diagnosed under 12 years of age, while the rest 60 (74%) were detected between adolescence and adulthood. Short stature was a universal characteristic in all study groups. Conclusions: The chromosomal formulas in Turner syndrome can be variable and have different implications in the phenotype; short stature stands out as a relevant clinical criterion in clinical suspicion.

Assessment of THADA gene polymorphisms in a sample of Colombian women with polycystic ovary syndrome: A pilot study.

Polycystic ovary syndrome (PCOS) is a multifactorial and polygenic endocrine-metabolic disorder in women of reproductive age. SNPs in the THADA gene have been identified as PCOS risk loci. In this study, we evaluated the frequency of five polymorphisms in a sample of Colombian women with PCOS, and their association with clinical and endocrine-metabolic parameters. Forty-nine women with PCOS and forty-nine healthy women were included. Allelic discrimination was performed in the THADA gene by iPLEX and the MassARRAY system (Agena Bioscience). Haploview software was conducted to analyze the linkage disequilibrium (LD) and haplotypes of polymorphisms. There was an association between the genotypes TT of rs12468394, CC + AA of rs12468394, and GG of rs6544661 and an increase in the levels of free testosterone. The CC + AA of rs12468394 genotype also was associated with an increase of androstenedione levels. THADA gene SNPs were not associated with PCOS risk. There was very strong LD among the SNPs. No significant differences in the frequency of haplotypes between groups were observed. The statistical power of this analysis is low because of the small number of samples analyzed. Additional studies involving large populations of Colombian women with PCOS are needed to verify the role of the THADA gene in this disorder.

Bioactive compounds for neuropathic pain: An update on preclinical studies and future perspectives.

Among different types of chronic pain, neuropathic pain (NP), arising from damage to the nervous system, including peripheral fibers and central neurons, is notoriously difficult to treat and affects 7-10% of the general population. Currently available treatment options for NP are limited and opioid analgesics have severe side effects and can result in opioid use disorder. Recent studies have exhibited the role of dietary bioactive compounds in the mitigation of NP. Here, we assessed the effects of commonly consumed bioactive compounds (ginger, curcumin, omega-3 polyunsaturated fatty acids, epigallocatechin gallate, resveratrol, soy isoflavones, lycopene, and naringin) on NP and NP-related neuroinflammation. Cellular studies demonstrated that these bioactive compounds reduce inflammation via suppression of NF-κB and MAPK signaling pathways that regulate apoptosis/cell survival, antioxidant, and anti-inflammatory responses. Animal studies strongly suggest that these regularly consumed bioactive compounds have a pronounced anti-NP effect as shown by decreased mechanical allodynia, mechanical hyperalgesia, thermal hyperalgesia, and cold hyperalgesia. The proposed molecular mechanisms include (1) the enhancement of neuron survival, (2) the reduction of neuronal hyperexcitability by activation of antinociceptive cannabinoid 1 receptors and opioid receptors, (3) the suppression of sodium channel current, and (4) enhancing a potassium outward current in NP-affected animals, triggering a cascade of chemical changes within, and between neurons for pain relief. Human studies administered in this area have been limited. Future randomized controlled trials are warranted to confirm the findings of preclinical efficacies using bioactive compounds in patients with NP.

Profile of Chromosomal Alterations, Chromosomal Instability and Clonal Heterogeneity in Colombian Farmers Exposed to Pesticides.

Pesticides are a group of environmental pollutants widely used in agriculture to protect crops, and their indiscriminate use has led to a growing public awareness about the health hazards associated with exposure to these substances. In fact, exposure to pesticides has been associated with an increased risk of developing diseases, including cancer. In a study previously published by us, we observed the induction of specific chromosomal alterations and, in general, the deleterious effect of pesticides on the chromosomes of five individuals exposed to pesticides. Considering the importance of our previous findings and their implications in the identification of cytogenetic biomarkers for the monitoring of exposed populations, we decided to conduct a new study with a greater number of individuals exposed to pesticides. Considering the above, the aim of this study was to evaluate the type and frequency of chromosomal alterations, chromosomal variants, the level of chromosomal instability and the clonal heterogeneity in a group of thirty-four farmers occupationally exposed to pesticides in the town of Simijacá, Colombia, and in a control group of thirty-four unexposed individuals, by using Banding Cytogenetics and Molecular Cytogenetics (Fluorescence in situ hybridization). Our results showed that farmers exposed to pesticides had significantly increased frequencies of chromosomal alterations, chromosomal variants, chromosomal instability and clonal heterogeneity when compared with controls. Our results confirm the results previously reported by us, and indicate that occupational exposure to pesticides induces not only chromosomal instability but also clonal heterogeneity in the somatic cells of people exposed to pesticides. This study constitutes, to our knowledge, the first study that reports clonal heterogeneity associated with occupational exposure to pesticides. Chromosomal instability and clonal heterogeneity, in addition to reflecting the instability of the system, could predispose cells to acquire additional instability and, therefore, to an increased risk of developing diseases.

Tumor-Infiltrating Lymphocytes (TILs) as a Biomarker of Abscopal Effect of Cryoablation in Breast Cancer: A Pilot Study.

BACKGROUND: Morphological evaluation of tumor-infiltrating lymphocytes (TILs) in breast cancer is gaining momentum as an immunological biomarker. This experiment evaluates the role of TILs in distant tumors as a measure of abscopal effect from cryoablation of breast cancer. METHODS: BALB/c mice underwent bilateral orthotopic transplant with 4T1-12B (triple-negative) cells. At 2 weeks, left tumors were treated by either resection (standard of care group) or cryoablation (intervention group) followed by resection of the distant right tumors 1 week posttreatment. TIL scores were calculated from hematoxylin and eosin-stained sections and phenotyped for cytotoxic T-lymphocyte (CTL) markers by immunofluorescence. Primarily resected tumors served as baseline (Tbaseline), whereas resected distant right-sided served as the readout for abscopal effect (AbsRes or AbsCryo). Mice were monitored for tumor recurrence and metastasis. RESULTS: The AbsCryo had a significant mean (SD) increase in stromal (2.8 [1.1]%; p = 0.015) and invasive margin TILs (50 [12]%; p = 0.02) compared with TBaseline (1.0 [0]% and 31 [4.9]%, respectively). CTL phenotyping revealed a significant increase in mean (SD) CD8+ T cells (15.7 [12.1]; p = 0.02) and granzyme B (4.8 [3.6]; p = 0.048) for the AbsCryo compared with TBaseline (5.2 [4.7] and 2.4 [0.9], respectively). Posttreatment, the cryoablation group had no recurrence or metastasis, whereas the resected group showed local recurrence and lung metastasis in 40% of the mice. Postprocedure increase in TIL score of distant tumors was associated with decrease in tumor relapse (p = 0.02). CONCLUSIONS: Cryoablation induced a robust tumor-specific TIL response compared with resection, suggesting an abscopal effect leading to the prevention of cancer recurrence and metastasis.

Prenatal cytogenetic diagnosis: results obtained in the specialized laboratory of Clínica Universitaria Colombia from 2013 to 2019.

OBJECTIVE: Prenatal cytogenetic evaluation is a key tool for identifying alterations in pregnant women with high risk for fetal chromosomal abnormalities (CA). In Colombia, there are not large-scale reports about the prevalence and pattern of CA in prenatal cytogenetic analysis. METHOD: A descriptive study was performed from registers of prenatal cytogenetic analysis on amniotic fluid (AF), chorionic villus biopsy (CVS), and fetal blood (FB) samples sent to the specialized laboratory of the Clínica Universitaria Colombia between 2013 and 2019. RESULTS: The prevalence of CA was 20.9%. The trisomies 21, 18, 13, and monosomy X were the most frequent aneuploidies, and the derivative chromosomes were the most frequent structural abnormalities. Although the rate of CA was higher in women over the age of 35 years old; monosomy X, unbalanced rearrangements, and microduplications were associated with the group of women under the age of 35 (p < .05). Trisomies 21 and 18 were the most common aneuploidies identified by FISH and were found to be altered in 52% of the aCGH studies. Ultrasonographic markers associated with CA were the most frequent clinical indication. CONCLUSION: In Colombia, the invasive prenatal cytogenetic analysis continues being an important diagnostic tool available for pregnant women with high risk for fetal CA.

Environmental Status of Cryptococcus neoformans and Cryptococcus gattii in Colombia.

The genus Cryptococcus comprises more than 80 species, including C. neoformans and C. gattii, which are pathogenic to humans, mainly affecting the central nervous system. The two species differ in geographic distribution and environmental niche. C. neoformans has a worldwide distribution and is often isolated from bird droppings. On the contrary, C. gattii is reported in tropical and subtropical regions and is associated with Eucalyptus species. This review aims to describe the distribution of environmental isolates of the Cryptococcus neoformans species complex and the Cryptococcus gattii species complex in Colombia. A systematic investigation was carried out using different databases, excluding studies of clinical isolates reported in the country. The complex of the species of C. gattii is recovered mainly from trees of the genus Eucalyptus spp., while the complex of the species of C. neoformans is recovered mainly from avian excrement, primarily Columba livia (pigeons) excrement. In addition, greater positivity was found at high levels of relative humidity. Likewise, an association was observed between the presence of the fungus in places with little insolation and cold or temperate temperatures compared to regions with high temperatures.

Programa educativo para favorecer la adherencia terapéutica en pacientes hipertensos de Manzanillo / Educative program to promote therapeutic adherence in patients with hypertension from Manzanillo / Programa educativo para promoção da adesão terapêutica em hipertensos de Manzanillo

RESUMEN Introducción: En investigaciones realizadas en el contexto cubano, se han puesto en evidencia las dificultades que presentan los pacientes hipertensos con la adherencia a los tratamientos. Objetivo: Evaluar la efectividad de un programa educativo, basado en el Modelo de Creencias de Salud, para favorecer la adherencia terapéutica en los pacientes hipertensos del Consultorio Médico de Familia No. 6, del Policlínico Universitario "Ángel Alfonso Ortiz Vázquez", del municipio Manzanillo, Granma. Método: Se realizó un estudio de intervención, cuasi experimental, en el período septiembre 2018 - abril 2019. El universo estuvo constituido por los 80 pacientes hipertensos que se encontraban en la adultez media. La muestra quedó conformada por 18 pacientes. En el proceso investigativo se emplearon el cuestionario MBG (Martín-Bayarre-Grau) y una encuesta elaborada por las autoras. El procesamiento estadístico se realizó mediante números absolutos y porcientos, y la prueba de hipótesis de homogeneidad haciendo uso del test de Chi-cuadrado. Los resultados se presentan resumidos en tablas. Resultados: Después de aplicar el programa, predominaron los pacientes con una adherencia parcial con un 55,6 %. El 83,3 % poseía una susceptibilidad percibida alta y el 94,4 % una severidad percibida alta. El 100 % percibió muchos beneficios tanto del tratamiento farmacológico como del higiénico-dietético y el 77,8 % notó pocas barreras. Conclusiones: El programa educativo fue efectivo pues se incrementa la adherencia terapéutica en los pacientes hipertensos, se eleva la susceptibilidad y severidad percibidas acerca de las complicaciones de la hipertensión y los beneficios percibidos con respecto al tratamiento superan las barreras.

ABSTRACT Introduction: Various research approach conducted in Cuba have revealed all difficulties experienced by hypertensive patients related to their adherence to treatment. Objective: To assess the effectiveness of the educative program. The program was based on the Health Belief Model, aimed to promote therapeutic adherence in patients with hypertension registered at the No. 6 family doctor´s office associated to the Policlínico Universitario "Ángel Alfonso Ortiz Vázquez", in Manzanillo, Granma. Method: A study which included a quasi-experimental and an exercise intervention was carried out from September 2018 through April 2019. The universe of study consisted of 80 middle - age adults with hypertension. The sample included 18 patients. In the research process was used the Martín Bayarre Grau questionnaire, including in addition an enquiry performed by the authors. The statistic process was performed using absolute numbers and percentages, and was used the Chi-square test for homogeneity hypothesis test. The results are summarized in tables. Results: After program applied, patients with partial adherence, a 55.6%, were predominant. The 83.3% had a high perceived susceptibility and 94.4% had a high perceived severity. The 100% perceived many benefits from both pharmacological and hygienic-dietary treatment and 77.8% noted few barriers. Conclusions: The educative program was successfully effective, increasing therapeutic adherence in hypertensive patients, increasing the perceived susceptibility and severity of hypertensive complications, and the perceived benefits concerning treatment overcame the barriers.

RESUMO Introdução: Em investigações realizadas no contexto cubano, foram destacadas as dificuldades que os hipertensos apresentam para adesão aos tratamentos. Objetivo: Avaliar a eficácia de um programa educativo, baseado no Modelo de Crenças em Saúde, para promover a adesão terapêutica em hipertensos da Clínica Médica de Família nº 6, da Policlínica Universitária "Ángel Alfonso Ortiz Vázquez", do município de Manzanillo, Granma. Método: Foi realizado um estudo quase experimental de intervenção no período de setembro de 2018 a abril de 2019. O universo foi constituído por 80 hipertensos que se encontravam na metade da idade adulta. A amostra foi composta por 18 pacientes. No processo investigativo, foram utilizados o questionário MBG (Martín-Bayarre-Grau) e um questionário elaborado pelos autores. O processamento estatístico foi realizado por meio de números absolutos e percentuais e o teste de hipótese de homogeneidade pelo teste do Qui-quadrado. Os resultados estão resumidos em tabelas. Resultados: Após a aplicação do programa, houve predomínio de pacientes com adesão parcial com 55,6%. 83,3% tinham uma sensibilidade percebida alta e 94,4% uma severidade percebida alta. 100% perceberam muitos benefícios do tratamento farmacológico e higiênico-dietético e 77,8% perceberam poucas barreiras. Conclusões: O programa educativo foi eficaz, pois a adesão terapêutica em hipertensos aumentou, a suscetibilidade percebida e a gravidade das complicações da hipertensão aumentaram e os benefícios percebidos com relação ao tratamento ultrapassaram as barreiras.

A Comprehensive Overview of Common Polymorphic Variants in Genes Related to Polycystic Ovary Syndrome.

Polycystic ovary syndrome (PCOS) is one of the most common endocrine-metabolic disorders in women of reproductive age. It is characterized by an increase in the biosynthesis of androgens, anovulation, and infertility. PCOS has been reported as a polygenic entity in which multiple single nucleotide polymorphisms (SNPs) are associated with the clinical features of the pathology. Herein, we describe the common polymorphic variants in genes related to PCOS, their role in its pathogenesis, and etiology. Whole-genome association studies have been focused on women from Asian and European populations. The most common genes associated with PCOS are DENND1A, THADA, FSHR, and LHCGR. However, other genes have been associated with PCOS such as AMH, AMHR2, ADIPOQ, FTO, HNF1A, CYP19, YAP1, HMGA2, RAB5B, SUOX, INSR, and TOX3. Nevertheless, the relationship between the biological functions of these genes and the development of the pathology is unclear. Studies in each gene in different populations do not always comply with a general pattern, so researching these variants is essential for better understanding of this polygenic syndrome. Future population studies should be carried out to evaluate biological processes, incidence rates, allelic and genotypic frequencies, and genetic susceptibility factors that predispose PCOS.

Biological and genetic landscape of breast implant-associated anaplastic large cell lymphoma (BIA-ALCL).

Breast implant-associated anaplastic large cell lymphoma (BIA-ALCL) is an uncommon form of non-Hodgkin lymphoma (cancer of the immune system) that can develop around breast implants. Breast implants are among the most commonly used medical devices for cosmetic or reconstructive purposes. In the past few years, the number of women with breast implants diagnosed with anaplastic large cell lymphoma (ALCL) has increased, and several studies have suggested a direct association between breast implants and an increased risk of this disease. Although it has been hypothesized that chronic stimulation of the immune system caused by implant materials and biofilms as well as a possible genetic predisposition play an important role in this disease, the cellular and molecular causes of BIA-ALCL are not fully understood. This review aims to describe the current understanding around the environmental and molecular drivers of BIA-ALCL as well as the genetic and chromosomal abnormalities identified in this disease to date.

Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients.

BACKGROUND: B-acute lymphoblastic leukemia (B-ALL) is a hematological neoplasm of the stem lymphoid cell of the B lineage, characterized by the presence of genetic alterations closely related to the course of the disease. The number of alterations identified in these patients grows as studies of the disease progress, but in clinical practice, the conventional techniques frequently used are only capable of detecting the most common alterations. However, techniques, such as next-generation sequencing (NGS), are being implemented to detect a wide spectrum of new alterations that also include point mutations. METHODS: In this study, we designed and validated a comprehensive custom NGS panel to detect the main genetic alterations present in the disease in a single step. For this purpose, 75 B-ALL diagnosis samples from patients previously characterized by standard-of-care diagnostic techniques were sequenced. RESULTS: The use of the custom NGS panel allowed the correct detection of the main genetic alterations present in B-ALL patients, including the presence of an aneuploid clone in 14 of the samples and some of the recurrent fusion genes in 35 of the samples. The panel was also able to successfully detect a number of secondary alterations, such as single nucleotide variants (SNVs) and copy number variations (CNVs) in 66 and 46 of the samples analyzed, respectively, allowing for further refinement of the stratification of patients. The custom NGS panel could also detect alterations with a high level of sensitivity and reproducibility when the findings obtained by NGS were compared with those obtained from other conventional techniques. CONCLUSIONS: The use of this custom NGS panel allows us to quickly and efficiently detect the main genetic alterations present in B-ALL patients in a single assay (SNVs and insertions/deletions (INDELs), recurrent fusion genes, CNVs, aneuploidies, and single nucleotide polymorphisms (SNPs) associated with pharmacogenetics). The application of this panel would thus allow us to speed up and simplify the molecular diagnosis of patients, helping patient stratification and management.

Integrated Genomic Analysis of Chromosomal Alterations and Mutations in B-Cell Acute Lymphoblastic Leukemia Reveals Distinct Genetic Profiles at Relapse.

The clonal basis of relapse in B-cell precursor acute lymphoblastic leukemia (BCP-ALL) is complex and not fully understood. Next-generation sequencing (NGS), array comparative genomic hybridization (aCGH), and multiplex ligation-dependent probe amplification (MLPA) were carried out in matched diagnosis-relapse samples from 13 BCP-ALL patients to identify patterns of genetic evolution that could account for the phenotypic changes associated with disease relapse. The integrative genomic analysis of aCGH, MLPA and NGS revealed that 100% of the BCP-ALL patients showed at least one genetic alteration at diagnosis and relapse. In addition, there was a significant increase in the frequency of chromosomal lesions at the time of relapse (p = 0.019). MLPA and aCGH techniques showed that IKZF1 was the most frequently deleted gene. TP53 was the most frequently mutated gene at relapse. Two TP53 mutations were detected only at relapse, whereas the three others showed an increase in their mutational burden at relapse. Clonal evolution patterns were heterogeneous, involving the acquisition, loss and maintenance of lesions at relapse. Therefore, this study provides additional evidence that BCP-ALL is a genetically dynamic disease with distinct genetic profiles at diagnosis and relapse. Integrative NGS, aCGH and MLPA analysis enables better molecular characterization of the genetic profile in BCP-ALL patients during the evolution from diagnosis to relapse.

Analysis of a Preimplantation Genetic Test for Aneuploidies in Embryos from Colombian Couples: A Report of Cases.

BACKGROUND: Assisted reproduction techniques (ARTs) and the preimplantation genetic test for aneuploidies (PGT-A) help couples with fertility problems to achieve a healthy live birth around the world. The aim of this study was to determine the rate of whole chromosomal copy number variations in embryos from couples undergoing ART and PGT-A, associations of chromosomal variations with embryo morphological parameters, and their relationship to maternal age. METHODS: This study included a retrospective analysis of the number of whole chromosomal copies identified by aCGH in embryos from couples undergoing ART. RESULTS: Seventy-six embryos from 29 couples using their own gametes were analyzed, of which 25 (32.9%) were chromosomally normal, and 51 (67.1%) were abnormal. Eleven embryos were evaluated from the group of couples with donated gametes, of which 5 (45.4%) embryos were chromosomally normal, and 6 (54.5%) embryos were abnormal. The main aneuploidies observed were trisomy X (7.8%), trisomy 21 (5.9%), trisomy 9 (3.9%), monosomy 11 (3.9%), monosomy 13 (3.9%) and monosomy X (3.9%), and the principal chromosomes affected were 19, X and 13. A significant association was found between the quality of the embryo and the genetic condition: embryos with euploidy and aneuploidy (p=0.046). CONCLUSION: The rate of aneuploidies from couples with their own gametes was 67.1% (51/76) and from couples with donated eggs and/or sperm was 54.5% (6/11). The quality of the embryo determinated by the morphological parameters was not associated with the embryo genetic status, and also there was no association between maternal age and aneuploidy rate.

Chromosomal Instability in Farmers Exposed to Pesticides: High Prevalence of Clonal and Non-Clonal Chromosomal Alterations.

INTRODUCTION: An important economic activity in Colombia is agricultural production and farmers are frequently exposed to pesticides. Occupational exposure to pesticides is associated with an increased incidence of various diseases, including cancer, Parkinson's disease, Alzheimer's disease, reproductive disorders, and birth defects. However, although high genotoxicity is associated with these chemicals, information about the type and frequency of specific chromosomal alterations (CAs) and the level of chromosomal instability (CIN) induced by exposure to pesticides is scarce or absent. METHODS: In this study, CAs and CIN were assessed in peripheral blood lymphocytes (PBLs) from five farmers occupationally exposed to pesticides and from five unexposed individuals using GTG-banding and molecular cytogenetic analysis. RESULTS: A significant increase in clonal and non-clonal chromosomal alterations was observed in pesticide-exposed individuals compared with unexposed individuals (510±12,2 vs 73±5,7, respectively; p<0.008). Among all CAs, monosomies and deletions were more frequently observed in the exposed group. Also, a high frequency of fragilities was observed in the exposed group. CONCLUSION: Together, these findings suggest that exposure to pesticides could be associated with CIN in PBLs and indicate the need for the establishment of educational programs on safety precautions when handling pesticides, such as wearing gloves, masks and boots, changing clothes and maintaining proper hygiene, among others. Further evaluation in other similar studies that include a greater number of individuals exposed to pesticides is necessary.