Germline mutations of breast cancer susceptibility genes through expanded genetic analysis in unselected Colombian patients.

BACKGROUND: In Colombia and worldwide, breast cancer (BC) is the most frequently diagnosed neoplasia and the leading cause of death from cancer among women. Studies predominantly involve hereditary and familial cases, demonstrating a gap in the literature regarding the identification of germline mutations in unselected patients from Latin-America. Identification of pathogenic/likely pathogenic (P/LP) variants is important for shaping national genetic analysis policies, genetic counseling, and early detection strategies. The present study included 400 women with unselected breast cancer (BC), in whom we analyzed ten genes, using Whole Exome Sequencing (WES), know to confer risk for BC, with the aim of determining the genomic profile of previously unreported P/LP variants in the affected population. Additionally, Multiplex Ligation-dependent Probe Amplification (MLPA) was performed to identify Large Genomic Rearrangements (LGRs) in the BRCA1/2 genes. To ascertain the functional impact of a recurrent intronic variant (ATM c.5496 + 2_5496 + 5delTAAG), a minigene assay was conducted. RESULTS: We ascertained the frequency of P/LP germline variants in BRCA2 (2.5%), ATM (1.25%), BRCA1 (0.75%), PALB2 (0.50%), CHEK2 (0.50%), BARD1 (0.25%), and RAD51D (0.25%) genes in the population of study. P/LP variants account for 6% of the total population analyzed. No LGRs were detected in our study. We identified 1.75% of recurrent variants in BRCA2 and ATM genes. One of them corresponds to the ATM c.5496 + 2_5496 + 5delTAAG. Functional validation of this variant demonstrated a splicing alteration probably modifying the Pincer domain and subsequent protein structure. CONCLUSION: This study described for the first time the genomic profile of ten risk genes in Colombian women with unselected BC. Our findings underscore the significance of population-based research, advocating the consideration of molecular testing in all women with cancer.

Salmonella Genomics and Population Analyses Reveal High Inter- and Intraserovar Diversity in Freshwater.

Freshwater can support the survival of the enteric pathogen Salmonella, though temporal Salmonella diversity in a large watershed has not been assessed. At 28 locations within the Susquehanna River basin, 10-liter samples were assessed in spring and summer over 2 years. Salmonella prevalence was 49%, and increased river discharge was the main driver of Salmonella presence. The amplicon-based sequencing tool, CRISPR-SeroSeq, was used to determine serovar population diversity and detected 25 different Salmonella serovars, including up to 10 serovars from a single water sample. On average, there were three serovars per sample, and 80% of Salmonella-positive samples contained more than one serovar. Serovars Give, Typhimurium, Thompson, and Infantis were identified throughout the watershed and over multiple collections. Seasonal differences were evident: serovar Give was abundant in the spring, whereas serovar Infantis was more frequently identified in the summer. Eight of the ten serovars most commonly associated with human illness were detected in this study. Crucially, six of these serovars often existed in the background, where they were masked by a more abundant serovar(s) in a sample. Serovars Enteritidis and Typhimurium, especially, were masked in 71 and 78% of samples where they were detected, respectively. Whole-genome sequencing-based phylogeny demonstrated that strains within the same serovar collected throughout the watershed were also very diverse. The Susquehanna River basin is the largest system where Salmonella prevalence and serovar diversity have been temporally and spatially investigated, and this study reveals an extraordinary level of inter- and intraserovar diversity.IMPORTANCESalmonella is a leading cause of bacterial foodborne illness in the United States, and outbreaks linked to fresh produce are increasing. Understanding Salmonella ecology in freshwater is of importance, especially where irrigation practices or recreational use occur. As the third largest river in the United States east of the Mississippi, the Susquehanna River is the largest freshwater contributor to the Chesapeake Bay, and it is the largest river system where Salmonella diversity has been studied. Rainfall and subsequent high river discharge rates were the greatest indicators of Salmonella presence in the Susquehanna and its tributaries. Several Salmonella serovars were identified, including eight commonly associated with foodborne illness. Many clinically important serovars were present at a low frequency within individual samples and so could not be detected by conventional culture methods. The technologies employed here reveal an average of three serovars in a 10-liter sample of water and up to 10 serovars in a single sample.

Maternal and perinatal characteristics, congenital malformations and the risk of wilms tumor: the ESTELLE study.

PURPOSE: Wilms tumor (WT), or nephroblastoma, is an embryonic tumor that constitutes the most common renal tumor in children. Little is known about the etiology of WT. The aim of this study was to investigate whether maternal or perinatal characteristics were associated with the risk of WT. METHODS: The ESTELLE study is a national-based case-control study that included 117 cases of WT and 1,100 controls younger than 11 years old. The cases were children diagnosed in France in 2010-2011 and the controls were frequency matched with cases by age and gender. The mothers of case and control children responded to a telephone questionnaire addressing sociodemographic and perinatal characteristics, childhood environment, and lifestyle. Unconditional logistic regression models adjusted on potential cofounders were used to estimate the odds ratios (OR) and their confidence intervals (95% CI). RESULTS: High birth weight and the presence of congenital malformation were associated with WT (OR 1.9 [95% CI 1.0-3.7] and OR 2.5 [95% CI 1.1-5.8], respectively). No association with breastfeeding or folic acid supplementation was observed. CONCLUSIONS: Although potential recall bias cannot be excluded, our findings reinforce the hypothesis that high birth weight and the presence of congenital malformation may be associated with an increased risk of WT. Further investigations are needed to further elucidate the possible role of maternal characteristics in the etiology of WT.

Parental smoking, maternal alcohol consumption during pregnancy and the risk of neuroblastoma in children. A pooled analysis of the ESCALE and ESTELLE French studies.

Neuroblastoma (NB) is the most common extra-cranial tumour in children. Little is known about the aetiology of NB. The early age at onset and the embryonic nature suggest a role for perinatal exposures. We conducted a pooled analysis of two French national population-based case-control studies to explore whether there was an association between parental smoking and alcohol consumption and the risk of NB. The mothers of 357 NB cases and 1,783 controls from general population, frequency matched by age and sex, were interviewed on demographic, socioeconomic and perinatal characteristics, maternal reproductive story, and life-style and childhood environment. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. A meta-analysis of our findings with those of previous studies was also conducted. Maternal smoking during pregnancy was slightly more often reported for the cases (24.1%) than for the controls (19.7%) (OR 1.3 [95% CI 0.9-1.7]; summary OR from meta-analysis 1.1 [95% CI 1.0-1.3]. Paternal smoking in the year before child's birth were not associated with NB as independent exposure (OR 1.1 [95% CI 0.9-1.4] but the association was stronger when both parents reported having smoked during pregnancy (OR 1.5 [95% CI 1.1-2.1]. No association was observed with maternal alcohol intake during pregnancy (OR 1.0 [95% CI 0.8-1.4], summary OR from meta-analysis 1.0 [95% CI 0.9-1.2]. Our findings provide some evidence of an association between maternal smoking during pregnancy and NB and add another reason to recommend that women refrain from smoking during pregnancy.

Factors related to pregnancy and birth and the risk of childhood brain tumours: The ESTELLE and ESCALE studies (SFCE, France).

Little is known of the causes of childhood brain tumors (CBT). The aims of this study were to investigate whether extremes of birth weight were associated with increased risk of CBT and whether maternal preconceptional folic acid supplementation or breastfeeding reduced the risk. In addition, other maternal characteristics and birth related factors were also investigated. We pooled data from two French national population-based case-control studies with similar designs conducted in 2003-2004 and 2010-2011. The mothers of 510 CBT cases (directly recruited from the national childhood cancer register) and 3,102 controls aged under 15 years, frequency matched by age and gender did a telephone interview, which focussed on demographic and perinatal characteristics, and maternal life style habits and reproductive history. Odds ratios (OR) and 95% confidence intervals (CI) were estimated using unconditional logistic regression, adjusted for age, sex, study of origin and relevant confounders. No association was found between CBT and birth weight or fetal growth. The use of preconceptional folic acid supplementation was rare (5.3% in cases and 7.8% in controls) and the OR was 0.8 (95% CI 0.5, 1.4). There was no association with breastfeeding, even prolonged (six months or more; OR 1.0, 95% CI 0.8, 1.4). Neither was there any association between CBT and other investigated factors (maternal body mass index, gestational weight gain, congenital abnormality, maternal reproductive history or use of fertility treatments. Although large, this study was underpowered for subtype analyses. Pooling data with other population-based studies may provide further insight into findings by CBT subtypes.

Maternal use of household pesticides during pregnancy and risk of neuroblastoma in offspring. A pooled analysis of the ESTELLE and ESCALE French studies (SFCE).

PURPOSE: Neuroblastoma (NB) is an embryonic tumor that occurs almost exclusively in infancy and early childhood. While considerable evidence suggests that it may be initiated during embryonic development, the etiology of NB is still unknown. The aim of this study was to explore whether there is an association between maternal use of household pesticides during pregnancy and the risk of NB in the offspring. METHODS: We conducted a pooled analysis of two French national-based case-control studies. The mothers of 357 NB cases and 1,783 controls younger than 6 years, frequency-matched by age and gender, responded to a telephone interview that focused on sociodemographic and perinatal characteristics, childhood environment, and life-style. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. RESULTS: After controlling for matching variables, study of origin, and potential confounders, the maternal use of any type of pesticide during pregnancy was associated with NB (OR 1.5 [95% CI 1.2-1.9]). The most commonly used type of pesticides were insecticides and there was a positive association with their use alone (OR 1.4 [95% CI 1.1-1.9]) or with other pesticides (OR 2.0 [95% CI 1.1-3.4]). CONCLUSIONS: Although there is the potential for recall bias due to the study design, our findings add to the evidence of an association between the household use of pesticides and NB. Until a better study design can be found, our findings add yet another reason why to advise pregnant women to limit pesticide exposure during the periconceptional period.

Risk of neuroblastoma, birth-related characteristics, congenital malformations and perinatal exposures: A pooled analysis of the ESCALE and ESTELLE French studies (SFCE).

Neuroblastoma (NB), an embryonic tumour arising from neural crest cells, is the most common malignancy among infants. The aetiology of NB is largely unknown. We conducted a pooled analysis to explore whether there is an association between NB and preconception and perinatal factors using data from two French national population-based case-control studies. The mothers of 357 NB cases and 1783 controls younger than 6 years, frequency-matched by age and gender, responded to a telephone interview that focused on demographic, socioeconomic and perinatal characteristics, childhood environment, life-style and maternal reproductive history. Unconditional logistic regression was used to estimate pooled odds ratios and 95% confidence intervals. After controlling for matching variables, study of origin and potential confounders, being born either small (OR 1.4 95% CI 1.0-2.0) or large (OR 1.5 95% CI 1.1-2.2) for gestational age and, among children younger than 18 months, having congenital malformations (OR 3.6 95% CI 1.3-8.9), were significantly associated with NB. Inverse associations were observed with breastfeeding (OR 0.7 95% CI 0.5-1.0) and maternal use of any supplements containing folic acid, vitamins or minerals (OR 0.5 95% CI 0.3-0.9) during the preconception period. Our findings reinforce the hypothesis that fetal growth anomalies and congenital malformations may be associated with an increased risk of NB. Further investigations are needed in order to clarify the role of folic acid supplementation and breastfeeding, given their potential importance in NB prevention.

Differences in the removal mechanisms of Undaria pinnatifida and Phragmites australis as biomaterials for lead removal.

This study offers the opportunity to utilize Undaria pinnatifida and Phragmites australis to remove lead from water in permeable reactive barrier (PRB) technology. Its efficacy was tested using batch experiments and PRB column systems. From the batch experiment results, a higher adsorption capacity was observed for Undaria pinnatifida. Nevertheless, Phragmites australis in the column system efficiently removed lead and the breakthrough occurred at the same time for both biomaterials. To dissipate this difference, a sequential extraction for metal speciation analysis was used for both columns. The results have shown that each biomaterial has a dominant mechanism. Phragmites australis removed lead by physical adsorption, whereas Undaria pinnatifida showed a higher tendency to bind lead due to organic matter, primary and secondary minerals.

Lead removal efficiency using biosorbents as alternative materials for permeable reactive barriers.

As alternative materials for heavy metal removal, this study investigated biosorbents to determine their suitability for permeable reactive barriers. The lead removal efficiencies of brown seaweed (Undaria pinnatifida) and reed (Phragmites australis) were determined under different conditions (batch and column system). The experimental results for these biomaterials fitted the Langmuir isotherm with high correlation values. It was verified that the influence of temperature on affinity was higher than that on adsorption capacity. While the lead removal efficiency of U. pinnatifida was higher than of P. australis in the batch experiments, lead removal efficiency decreased for both materials at approximately the same time in the column experiments. This indicates that the dominance of the chemical and physical adsorption mechanisms could result in differences in these systems.

Medically Assisted Reproduction and Risk of Cancer Among Offspring.

Importance: Cancer is a leading cause of death among children worldwide. Treatments used for medically assisted reproduction (MAR) are suspected risk factors because of their potential for epigenetic disturbance and associated congenital malformations. Objective: To assess the risk of cancer, overall and by cancer type, among children born after MAR compared with children conceived naturally. Design, Setting, and Participants: For this cohort study, the French National Mother-Child Register (EPI-MERES) was searched for all live births that occurred in France between January 1, 2010, and December 31, 2021 (and followed up until June 30, 2022). The EPI-MERES was built from comprehensive data of the French National Health Data System. Data analysis was performed from December 1, 2021, to June 30, 2023. Exposure: Use of assisted reproduction technologies (ART), such as fresh embryo transfer (ET) or frozen ET (FET), and artificial insemination (AI). Main Outcomes and Measures: The risk of cancer was compared, overall and by cancer type, among children born after fresh ET, FET, or AI and children conceived naturally, using Cox proportional hazards regression models adjusted for maternal and child characteristics at birth. Results: This study included 8 526 306 children with a mean (SD) age of 6.4 (3.4) years; 51.2% were boys, 96.4% were singletons, 12.1% were small for gestational age at birth, and 3.1% had a congenital malformation. There were 260 236 children (3.1%) born after MAR, including 133 965 (1.6%) after fresh ET, 66 165 (0.8%) after FET, and 60 106 (0.7%) after AI. A total of 9256 case patients with cancer were identified over a median follow-up of 6.7 (IQR, 3.7-9.6) years; 165, 57, and 70 were born after fresh ET, FET, and AI, respectively. The overall risk of cancer did not differ between children conceived naturally and those born after fresh ET (hazard ratio [HR], 1.12 [95% CI, 0.96 to 1.31]), FET (HR, 1.02 [95% CI, 0.78 to 1.32]), or AI (HR, 1.09 [95% CI, 0.86 to 1.38]). However, the risk of acute lymphoblastic leukemia was higher among children born after FET (20 case patients; HR 1.61 [95% CI, 1.04 to 2.50]; risk difference [RD], 23.2 [95% CI, 1.5 to 57.0] per million person-years) compared with children conceived naturally. Moreover, among children born between 2010 and 2015, the risk of leukemia was higher among children born after fresh ET (45 case patients; HR, 1.42 [95% CI, 1.06 to 1.92]; adjusted RD, 19.7 [95% CI, 2.8 to 43.2] per million person-years). Conclusions and Relevance: The findings of this cohort study suggest that children born after FET or fresh ET had an increased risk of leukemia compared with children conceived naturally. This risk, although resulting in a limited number of cases, needs to be monitored in view of the continuous increase in the use of ART.

Oral Manifestations of Systemic Lupus Erythematosus: A Systematic Review.

Systemic lupus erythematosus (SLE) is a chronic autoimmune disease that is characterized by clinical heterogeneity and irregularities in its course. The etiology and pathogenesis of this pathology are not well-understood, so there is difficulty in establishing a diagnosis and treatment plan with certainty. The aim of this systematic review is to present a qualitative synthesis of studies referring to the oral manifestations of systemic lupus erythematosus (SLE). This systematic review was performed following the PRISMA guideline. On this basis, a search for articles was performed in the PubMed, Web of Science, and Scopus databases on 19 November 2021 and updated on 15 February 2022. We chose articles published between 2012 and 2022 that analyzed the oral manifestations of SLE patients. The quality of all these studies was analyzed following the STROBE scale. A total of 15 articles were included in this study after selection. The selected articles were cross-sectional, case-control, and cohort studies. The most frequently associated oral manifestations with SLE were oral ulcers, hyposalivation, pigmentations, glossodynia, cleft tongue, cheilitis, arthritis, and secondary Sjögren's syndrome. However, despite the importance of the perception of these oral manifestations in the early diagnosis of SLE, there are still not enough studies about them.

Factors associated with 5- and 10-year survival among a recent cohort of childhood cancer survivors (France, 2000-2015).

BACKGROUND: Childhood cancer survival currently exceeds 80 % five years after diagnosis in high-income countries. In this study, we aimed to describe long-term trends and to investigate socioeconomic and spatial disparities in childhood cancer survival. METHODS: The study included 28,073 cases recorded in the French National Registry of Childhood Cancers from 2000 to 2015. Contextual census data (deprivation indices, population density, spatial accessibility to general practitioners) were allocated to each case based on the residence at diagnosis. Overall survival (OS) and conditional 10-year OS for 5-year survivors were estimated for all cancers combined and by diagnostic group and subgroup. Comparisons were conducted by sex, age at diagnosis, period of diagnosis, and contextual indicators. Hazard ratios for death were estimated using Cox models. RESULTS: All cancers combined, the OS reached 82.8 % [95 % CI: 82.4-83.3] at 5 years and 80.8 % [95 % CI: 80.3-81.3] at 10 years. Conditional 10-year OS of 5-year survivors reached 97.5 % [95 % CI: 97.3-97.7] and was higher than 95 % for all subgroups except osteosarcomas and most subgroups of the central nervous system. In addition to disparities by sex, age at diagnosis, and period of diagnosis, we observed a slight decrease in survival for cases living in the most deprived areas at diagnosis, not consistent across diagnostic groups. CONCLUSION: Our results confirm the high 5-year survival for childhood cancer and show an excellent 10-year conditional survival of 5-year survivors. Additional individual data are needed to clarify the factors underlying the slight decrease in childhood cancer survival observed in the most deprived areas.

High risk for psychiatric disorders in bipolar offspring. A four years prospective study.

Bipolar disorder (BD) has a large hereditary component. It is a disorder that begins in early adulthood, but about which it has been described a premorbid period preceding the onset of BD. During this herald expression psychiatric disorders and symptoms, such as depressive, manic, psychotic, anxious and others, may appear. OBJECTIVE: To determine the psychopathological profile of a Bipolar Offspring (BO) group compared with the Community Control Offspring (CCO) group, and its evolution over time, including subthreshold symptoms and mental disorders. METHODS: We conducted an observational mixed cohort study, with a prospective design. We included subjects from six to 30 years of age, from the region of Antioquia, Colombia. A total of 131 subjects from the risk group BO and 150 subjects from the CCO group were evaluated through validated psychiatric diagnostic interviews (K-SADS-PL and DIGS) at baseline and at 4 years follow up. All interviews were carried out by a staff blind to parent diagnoses. Follow-up assessment were complete in 72% of the offspring. Forty-two subjects were excluded as they surpassed the age of 30 years, and only 46 subjects were not followed (change of address or did not consent to participate). RESULTS: Compared with the CCO group, the BO group had a higher frequency of affective disorder, psychotic disorder, externalizing disorders and use of the psychoactive substances during both assessments at time 1 and 2. The magnitude of the differences between the groups increased when they reach time 2. The BO group had a greater risk for presenting subthreshold symptoms and definitive psychiatric disorders, such as affective disorders, psychotic disorders and externalizing disorders. In addition, the BO group had a younger age of onset for psychoactive substances consumption. CONCLUSION: During the follow-up period, the BO group had a higher risk of presenting mental disorders compared with the CCO group. The most relevant symptoms and disorders that could precede the onset of BD were depressive, bipolar not otherwise specified, psychotic and substance use.

Maternal exposure to pesticides and risk of childhood lymphoma in France: A pooled analysis of the ESCALE and ESTELLE studies (SFCE).

BACKGROUND: Few studies have assessed the relation between maternal prenatal pesticides use and childhood lymphoma risk, some reporting a positive association with non-Hodgkin lymphoma (NHL). We investigated the association between maternal exposure to pesticides during pregnancy and childhood Hodgkin (HL) and non-Hodgkin lymphoma. METHODS: We pooled data from the two French national population-based case-control studies ESCALE (2003-2004) and ESTELLE (2010-2011). Data on domestic and occupational exposures to pesticides during pregnancy were obtained through standardised maternal interviews. Logistic regression models were used to compute odds ratios (OR) and 95% confidence intervals (CI) for HL and NHL, by pesticide category adjusted for potential confounders. Analyses by histological subtypes were also performed. RESULTS: We included 328 H L, 305 non-Hodgkin NHL and 2,415 controls. Around 40% of control mothers reported having used pesticides during index pregnancy, of whom 95% reported insecticides use. Maternal use of herbicides and fungicides occurred mostly in combination with insecticides. Insecticides use was more frequently reported in cases than controls (ORNHL = 1.6 [95%CI 1.3-2.1], p = 0.0001; ORHL = 1.3 [95%CI 1.0-1.7], p = 0.03). This association appeared more marked for Burkitt lymphoma and mixed cellularity classical HL. No obvious association was observed with occupational pesticides exposure during pregnancy. CONCLUSION: These results suggest that maternal domestic use of insecticides during pregnancy might be related to both childhood NHL and HL. Further larger studies are urgently needed.

Environmental exposures related to parental habits in the perinatal period and the risk of Wilms' tumor in children.

INTRODUCTION: Wilms' tumor is the most frequently diagnosed renal tumor in children. Little is known about its etiology. The aim of this study was to investigate the potential role of specific exposures related to parental habits such as parental smoking, maternal alcohol consumption and the use of household pesticides during pregnancy. METHODS: The ESTELLE study was a nationwide case-control study that included 117 Wilms' tumor cases and 1100 control children from the general French population, frequency-matched by age and gender. Unconditional logistic regression was used to estimate odds ratios and 95 % confidence intervals. RESULTS: After controlling for matching variables and potential confounders, the maternal use of any type of pesticide during pregnancy was associated with the risk of Wilms' tumor in children (OR 1.6 [95 % CI 1.1-2.3]). Insecticides were the most commonly reported type of pesticide and there was a positive association with their use (OR 1.7 [95 % CI 1.1-2.6]. The association was stronger when they were used more often than once a month (OR 1.9 [95 % CI 1.2-3.0]. Neither maternal smoking during pregnancy nor paternal smoking during preconception/pregnancy was associated with a risk of Wilms' tumor (ORs 1.1[95 % CI 0.7-1.8] and 1.1 [95 % CI 0.7-1.7], respectively). No association was observed with maternal alcohol intake during pregnancy (OR 1.2 [95 % CI 0.8-2.0]). CONCLUSION: Our findings suggest an association between the maternal use of household pesticides during pregnancy and the risk of Wilms' tumor.

High Risk for Psychiatric Disorders in Bipolar Offspring. A Four Years Prospective Study.

Bipolar disorder (BD) has a large hereditary component. It is a disorder that begins in early adulthood, but about which it has been described a premorbid period preceding the onset of BD. During this herald expression psychiatric disorders and symptoms, such as depressive, manic, psychotic, anxious and others, may appear. OBJECTIVE: To determine the psychopathological profile of a Bipolar Offspring (BO) group compared with the Community Control Offspring (CCO) group, and its evolution over time, including subthreshold symptoms and mental disorders. METHODS: We conducted an observational mixed cohort study, with a prospective design. We included subjects from six to 30 years of age, from the region of Antioquia, Colombia. A total of 131 subjects from the risk group BO and 150 subjects from the CCO group were evaluated through validated psychiatric diagnostic interviews (K-SADS-PL and DIGS) at baseline and at 4 years follow up. All interviews were carried out by a staff blind to parent diagnoses. Follow-up assessment were complete in 72% of the offspring. Forty-two subjects were excluded as they surpassed the age of 30 years, and only 46 subjects were not followed (change of address or did not consent to participate). RESULTS: Compared with the CCO group, the BO group had a higher frequency of affective disorder, psychotic disorder, externalizing disorders and use of the psychoactive substances during both assessments at time 1 and 2. The magnitude of the differences between the groups increased when they reach time 2. The BO group had a greater risk for presenting subthreshold symptoms and definitive psychiatric disorders, such as affective disorders, psychotic disorders and externalizing disorders. In addition, the BO group had a younger age of onset for psychoactive substances consumption. CONCLUSION: During the follow-up period, the BO group had a higher risk of presenting mental disorders compared with the CCO group. The most relevant symptoms and disorders that could precede the onset of BD were depressive, bipolar not otherwise specified, psychotic and substance use.

Raman spectroscopy for the differentiation of Arabic coffee genotypes.

The objective of this study was to evaluate the ability of Raman spectroscopy to identify the genotype of green coffee beans. Four genotypes of Arabic coffee: one Mundo Novo line (G1) and three Bourbon lines (G2, G3, and G4). The harvest was selected using a wet processing method. Raman spectra of the samples were obtained using a FT-Raman RFS/100 spectrometer in the spectral range of 3500-400 cm-1. The data were treated using chemometric unsupervised classification tools and supervised analysis. Using the unsupervised analysis (PCA), the apparent tendency of agglomeration between samples G1 and G3 was verified. These differences were present in the spectral bands that are characteristic of fatty acids and kahweol. Based on this information, a classification model to discriminate (PLS-DA) the Mundo Novo and Bourbon samples was utilized. Raman spectroscopy allowed the building of an adequate model to differentiate between coffee genotypes.

Cuidados al final de la vida: propuesta de atención primaria para el paciente con ERC avanzada

Contexto: en el marco de la salud pública en Colombia, se ha presentado un aumento significativo de personas que son diagnosticadas con enfermedad renal crónica y que requieren de comenzar algún tipo de terapia de reemplazo renal y sostenimiento. También se presentan otras patologías que disminuyen el nivel de calidad de vida de los pacientes como cáncer, insuficiencias cardiacas y diferentes tipos de demencias. Objetivo: los modelos tradicionales de atención de la enfermedad renal deben actualizarse y considerar, dentro de sus protocolos, el reconocimiento de la vida y la muerte digna como elementos que emergen dentro de la condición de salud-enfermedad de los pacientes; si esto se aborda de manera temprana, es posible prevenir hospitalizaciones con estancias prolongadas, así como alteraciones del estado del ánimo y otras complicaciones que pueden aumentar y acelerar la morbimortalidad de los pacientes. Metodología: este artículo nace a partir de la experiencia en la atención directa de pacientes con enfermedad renal crónica avanzada en un centro de cuidado renal de la ciudad de Medellín (Colombia) durante 7 años y de la revisión teórica de diferentes textos y artículos que se encuentran las bases de datos como Pubmed, Scopus, EBSCO, Dialnet, SciELO, entre otras. Resultados: se ofrece una propuesta de elementos para evaluar la condición de salud enfermedad del paciente por parte de un equipo interdisciplinario, liderado por el nefrólogo, para el diseño de la ruta de atención más adecuada en términos de costo-beneficio para el paciente y su familia y que estos tomen decisiones basadas en la información. Conclusiones: invertir en un programa de atención primaria en cuidados paliativos y al final de la vida de forma temprana resulta beneficioso para el paciente. El inicio de un programa de cuidados al final de la vida no significa renunciar o suspender el tratamiento dialítico; en su lugar, busca que la atención brindada se centre en las necesidades del paciente y en el adecuado control de los síntomas que se pueden presentar cuando se inicia la etapa de final de la vida.

Background: In the context of public health in Colombia, there has been a significant increase in the number of people diagnosed with chronic kidney disease and who require starting some type of renal replacement therapy and support. There are also other pathologies that reduce the quality of life of patients, such as cancer, heart failure and different types of dementia. Purpose: Traditional models of renal disease care should be updated and consider, within their protocols, the recognition of life and dignified death as elements that emerge within the health-disease condition of patients; if this is addressed early, it is possible to prevent hospitalizations with prolonged stays, as well as mood alterations and other complications that can increase and accelerate the morbimortality of patients. Methodology: This article is based on experience in the direct care of patients with advanced chronic kidney disease in a renal care center in the city of Medellin (Colombia) for 7 years and on the theoretical review of different texts and articles found in databases such as Pubmed, Scopus, EBSCO, Dialnet, SciELO, among others. Results: We offer a proposal of elements to evaluate the patient's health-disease condition by an interdisciplinary team, led by the nephrologist, for the design of the most adequate route of care in terms of cost-benefit for the patient and his family and for them to make decisions based on the information. Conclusions: Investing in a primary care program in palliative and end-of-life care early is beneficial for the patient. Initiating an end-of-life care program does not mean giving up or suspending dialysis treatment; instead, it seeks to focus the care provided on the patient's needs and on the adequate control of the symptoms that may occur when the end-of-life stage begins.