A comparison assessment of landfill waste incineration and methane capture in the central region of Mexico.

This article aims to conduct a techno-economic feasibility assessment of producing energy by waste incineration and methane capture in the central region of Mexico. Three scenarios at different efficiency rates were considered: 50, 80 and 100%. For the methane project, yields and power capacity were determined using the potential generation rate and the degradable organic carbon content through the LandGEM model. For incineration, the waste calorific potential and the average moisture content were used to estimate the achievable electrical performance. The estimated annual energy was 35,018 GWh for methane, compared to 537.71 GWh for incineration. Both projects reported financial economic feasibilities when evaluated at a discount rate of 12%. Incineration reported an net present value of US$49,942,534 and an internal rate of return of 26% in contrast to US$4,054,109 and 17% for the methane project. Although the payback period for incineration was lower than for methane, its levelized cost of energy was significantly higher. These results are intended to assist the decision-making process when planning and developing waste management strategies under principles of circular economy in Mexico and similar regions worldwide.

De novo transcriptome assembly for two color types of the marine sponge Mycale (Carmia) cecilia.

Despite the ecological importance and the potential pharmacological application of the sponge Mycale (Carmia) cecilia, it is uncertain whether the body-color variation, even in individuals coexisting in the same area, is due to intraspecific phenotypic plasticity or corresponds to taxonomic divergence. This uncertainty is relatively common in several Porifera groups, which lack the resolution of morphological diagnostic characters and slow-evolving mitochondrial genomes as occurs in early splitting lineages. We sequenced the RNA of six individuals with two different body-color (green-morphotype and red-morphotype) collected at the same time side by side. High-throughput sequencing of cDNA libraries produced ~ 129 million reads with a length of 150 bp. Each morphotype was assembled separately owing to the low overlapping in the global assembly. Metatranscriptome de novo assembly of the trimmed and normalized reads produced 461 thousand transcripts for the green-morphotype and 342 thousand for the red-morphotype (respectively). Over 30% of the transcripts contained Open Reading Frames (ORFs) with functional significance. BUSCO analysis of the ORFs of putative poriferan origin (31.3% green or 30.4% red) indicated that our assemblies are 60% complete. This is the first attempt to evaluate the morphological diversity in the species M. (C.) cecilia and the phylum Porifera at the transcriptomic level. Due to the minimum overlap of the assembly and that, the red-morphotype diverged significantly from the green-morphotype (original color of M. (C.) cecilia). Therefore, we suggest that the red-morphotype should undergo a complete taxonomic investigation and its taxonomic status be reviewed. We expect that the transcriptome assembly metrics can be useful for comparing other transcriptome assemblies of non-model organisms.

Roberts Syndrome With a Bilateral Cleft Lip and Palate.

ABSTRACT: Roberts syndrome (RBS) is a rare craniofacial anomaly associated with tetraphocomelia, growth and mental retardation, cardiac and renal abnormalities. The RBS is caused by homozygous mutation in the ESCO2 gene on chromosome 8p21. In this report, the authors describe a 5-year-old female infant with RBS and bilateral cleft lip and cleft palate, an extremely rare condition.

Chronic continuous exenatide infusion does not cause pancreatic inflammation and ductal hyperplasia in non-human primates.

In this study, we aimed to evaluate the effects of exenatide (EXE) treatment on exocrine pancreas of nonhuman primates. To this end, 52 baboons (Papio hamadryas) underwent partial pancreatectomy, followed by continuous infusion of EXE or saline (SAL) for 14 weeks. Histological analysis, immunohistochemistry, Computer Assisted Stereology Toolbox morphometry, and immunofluorescence staining were performed at baseline and after treatment. The EXE treatment did not induce pancreatitis, parenchymal or periductal inflammatory cell accumulation, ductal hyperplasia, or dysplastic lesions/pancreatic intraepithelial neoplasia. At study end, Ki-67-positive (proliferating) acinar cell number did not change, compared with baseline, in either group. Ki-67-positive ductal cells increased after EXE treatment (P = 0.04). However, the change in Ki-67-positive ductal cell number did not differ significantly between the EXE and SAL groups (P = 0.13). M-30-positive (apoptotic) acinar and ductal cell number did not change after SAL or EXE treatment. No changes in ductal density and volume were observed after EXE or SAL. Interestingly, by triple-immunofluorescence staining, we detected c-kit (a marker of cell transdifferentiation) positive ductal cells co-expressing insulin in ducts only in the EXE group at study end, suggesting that EXE may promote the differentiation of ductal cells toward a ß-cell phenotype. In conclusion, 14 weeks of EXE treatment did not exert any negative effect on exocrine pancreas, by inducing either pancreatic inflammation or hyperplasia/dysplasia in nonhuman primates.

Virus and Mycoplasma pneumoniae prevalence in a selected pediatric population with acute asthma exacerbation.

OBJECTIVE: To determine the prevalence of viral and atypical bacteria Mycoplasma pneumoniae infection in children experiencing asthma exacerbation and compare positive and negative subjects with regard to exacerbation severity, need for hospitalization, and treatment. METHODS: One hundred sixty-nine asthmatic children aged 2-15 years old who were admitted to emergency rooms in Bogota, Colombia for acute asthma exacerbation were interviewed. Nasopharyngeal aspirates were taken for DNA and RNA extraction. M. pneumoniae and virus were detected by PCR using specific primers. RESULTS: The prevalence of M. pneumoniae and viral infection in the study population was 12.4% and 83.7%, respectively. All subjects positive for M. pneumoniae were also positive for viral infection. Rhinovirus was the most frequently detected viral agent. No significant differences in severity of asthma exacerbations or in need for hospitalization between the virus or M. pneumoniae positive and negative groups were observed. A significantly lower percentage of M. pneumoniae positive subjects had used inhaled steroids over the six months prior to asthma exacerbation compared to M. pneumoniae negative subjects (38.1% vs. 68.2%), suggesting that inhaled corticosteroids may have a protective effect against M. pneumoniae infections. CONCLUSIONS: The M. pneumoniae and virus prevalence found in this study were similar to those described in the literature. The 100% co-infection rate observed suggests that viral infection can predispose patients to M. pneumoniae infection, and that this interaction may trigger asthmatic exacerbation. Further studies should be done to confirm the protective effect of inhaled corticosteroids on M. pneumoniae infection in patients with asthma exacerbations.

Strong population structure and shallow mitochondrial phylogeny in the banded guitarfish, Zapteryx exasperata (Jordan y Gilbert, 1880), from the Northern Mexican Pacific.

The northern Mexican Pacific (NMP), the Gulf of California (GC), and Baja California have been recognized as an ecological and evolutionarily dynamic region having experienced significant tectonic and climatic changes leading to the diversification of terrestrial and marine biotas. Zapteryx exasperata is a predominant ray caught in the artisanal fisheries of the NMP. Morphometric and reproductive differences between rays from the GC and the Pacific coast of Baja California (PCBC) regions suggest the presence of distinct populations. We investigate whether this distinction correlates with differences in genetic diversity and differentiation using sequences of the mitochondrial nicotinamide adenine dinucleotide dehydrogenase subunit 2 (ND2) gene and the noncoding control region (CR) in 63 specimens. Contrary to our expectations, ND2 bore significantly more diversity (h = 0.76) than CR (h = 0.39). Geographic patterns of diversity of CR were opposite to those of ND2, with GC being significantly less (ND2) and more (CR) diverse than PCBC. The diversity of concatenated haplotypes was high (h = 0.84). Low nucleotide diversity suggests the recent coancestry of haplotypes. Marked genetic structure (Φst = 0.23, P < 0.0001) revealed the existence of reproductive isolation and limited matrilineal gene flow between GC and PCBC, which correlates with their phenotypic distinction. These results suggest the influence of factors such as female reproductive philopatry, and ecological or historical vicariant barriers to gene flow. Our results point to the existence of a distinct management unit of banded guitarfish in each region, and add to the increasing evidence attesting to the diversifying nature of this evolutionarily dynamic region.

A patient with a unique frameshift mutation in GPC3, causing Simpson-Golabi-Behmel syndrome, presenting with craniosynostosis, penoscrotal hypospadias, and a large prostatic utricle.

We present a Hispanic male with the clinical and molecular diagnosis of Simpson-Golabi-Behmel syndrome (SGBS). The patient was born with multiple anomalies not entirely typical of SGBS patients, including penoscrotal hypospadias, a large prostatic utricle, and left coronal craniosynostosis. In addition, he demonstrated endocrine anomalies including a low random cortisol level suspicious for adrenal insufficiency and low testosterone level. To our knowledge, this is the first report of a prostatic utricle in SGBS and the second report of craniosynostosis. The unique disease-causing mutation likely arose de novo in the mother. It is a deletion-insertion that leads to a frameshift at the p.p. S359 [corrected] residue of GPC3 and a premature stop codon after five more amino acids. p. S359 [corrected] is the same residue that is normally cleaved by the Furin convertase, although the significance of this novel mutation with respect to the patient's multiple anomalies is unknown. We present this case as the perinatal course of a patient with unique features of SGBS and a confirmed molecular diagnosis.

Verbal working memory in individuals with schizophrenia and their first degree relatives: relationship with negative and disorganized symptoms.

OBJECTIVE: To determine whether there are differences in verbal working memory amongst subjects with schizophrenia, their first degree relatives and controls, and to evaluate the influence of symptoms on these differences, as an initial step to assess whether this cognitive function is an endophenotype. METHODS: We examined 197 cases with schizophrenia, 197 first degree relatives and 200 controls through psychiatric interviews and the Letters and Numbers Sequencing test (LNS). Performance was compared among the three groups adjusting for age, sex and education level. Adjustment for "negative symptoms" and "disorganization" was performed afterwards. RESULTS: Subjects with schizophrenia showed lower performance in the LNS than their first degree relatives and the healthy controls; the effect sizes were 0.75 and 1.18 respectively. There was a small difference between relatives and controls (effect size =0.38). These differences were significant after adjustment for negative and disorganized symptoms, but the effect sizes became smaller: 0.26 for relatives vs. subjects with schizophrenia, 0.56 for controls vs. subjects with schizophrenia and 0.33 for relatives vs. controls. Among individuals with schizophrenia, performance in the LNS was not associated with disorder duration, disease onset age, antipsychotics, history of depressive episodes or substance use disorders. CONCLUSION: Results suggest verbal working memory may be considered as an endophenotype in schizophrenia.

Unexpected reactivity related to support effects during xylose hydrogenation over ruthenium catalysts.

Xylose is a major component of hemicelluloses. In this paper, its hydrogenation to xylitol in aqueous medium was investigated with two Ru/TiO2 catalysts prepared with two commercial TiO2 supports. A strong impact of the support on catalytic performance was evidenced. Ru/TiO2-R led to fast and selective conversion of xylose (100% conversion in 2 h at 120 °C with 99% selectivity) whereas Ru/TiO2-A gave a slower and much less selective transformation (58% conversion in 4 h at 120 °C with 17% selectivity) with the formation of several by-products. Detailed characterization of the catalysts with ICP, XRD, FTIR, TEM, H2 chemisorption, N2 porosimetry, TPR and acid-base titration was performed to elucidate the role of each support. TiO2-R has a small specific surface area with large ruthenium nanoparticles in weak interaction with the TiO2 support and no acidity, whereas TiO2-A is a mesoporous material with a large specific surface area that is mildly acidic, and bears small ruthenium particles in strong interaction with the TiO2 support. The former was very active and selective for xylose hydrogenation to xylitol whereas the latter was less active and poorly selective. Moreover, careful analysis of the reaction products also revealed that anatase TiO2 can catalyze undesired side-reactions such as xylose isomerisation to various pentoses, and therefore the corresponding unexpected polyols (arabitol, ribitol) were produced during xylose conversion by hydrogenation. In a first kinetic approach, a simplified kinetic model was built to compare quantitatively intrinsic reaction rates of both catalysts. The kinetic constant for hydrogenation was 20 times higher for Ru/TiO2-R at 120 °C.

Reduced solvent and reagent amounts: effect on carbonyl dinitrophenylhydrazone measurements at low concentrations.

This work aims to advance towards a more affordable laboratory procedure for sample treatment to determine carbonyl compounds by derivatization with 2,4-dinitrophenylhydrazine (DNPH). The proposal is based on reducing the amount of DNPH and solvents. A simple addition of standard carbonyls in a solution containing DNPH to prepare hydrazone standards is described and evaluated. Tedious recrystallization steps are avoided. Formaldehyde, acetaldehyde, acetone, tolualdehyde and hexanal, as carbonyl models, were quantified using a DNPH concentration of 400 µg mL-1 and 3.8 mM H2SO4 and by keeping for 24 hours at room temperature. Analytical coefficients of variation between 10 and 25% were found from the analysis of blanks under intermediate conditions (two different devices, very different concentrations of DNPH and analysis on two days). From these values of relative standard deviations and background levels, quantification limits were estimated between 15 and 40 ng mL-1. The reduction of reagent amounts allows the operator to better control the background levels in the use of DNPH, as well as making the method more cost-effective and easy to use. In short, it leads to a more sustainable adaptation of the classical method. The versatility in analytical application was tested to estimate the levels of formaldehyde, acetaldehyde and acetone in very different types of environmental samples. In particular, outdoor and indoor samples were collected in filters and impregnated cartridges, respectively. Moreover, tars in 2-propanol and particulate matter from gasification processes were also tested.

Analysis of the Cost-Effectiveness of Liquid Biopsy to Determine Treatment Change in Patients with Her2-Positive Advanced Breast Cancer in Colombia.

BACKGROUND: Breast cancer is highly prevalent worldwide and leads to high health-care costs. HER2-positive subtype represents 30% of all breast cancers and is associated with a poor prognosis. Patients treated with anti-HER2 therapies frequently develop resistance and require pharmacological treatment change. Liquid biopsy is a minimally invasive and an easily accessible technique, with high sensitivity and specificity, to detect molecular treatment resistance even before the onset of clinical manifestations and can thus be used to reduce unnecessary anti-HER2 treatment costs. OBJECTIVE: To evaluate the cost-effectiveness of using liquid biopsy (ctDNA detection) to determine treatment change in women with HER2-positive advanced breast cancer in Colombia. METHODOLOGY: We performed an economic evaluation using decision tree modeling and deterministic analyses based on literature search for first and second lines of treatment (trastuzumab, pertuzumab, docetaxel, and TDM1); resistance; outcomes; and sensitivity and specificity of tests detecting molecular resistance. The effectiveness was measured using quality-adjusted life year (QALY) score, and costs were obtained from databases with national validity, suppliers, the Colombian Drug Price Information System (SISMED), and local studies. RESULTS: The use of liquid biopsy (ctDNA detection) with conventional treatment was more expensive and less effective than conventional treatment without liquid biopsy (US $177,985.35 and 0.533889206 QALY, respectively). The incremental cost with liquid biopsy was US $7,333.17 and the incremental effectiveness was 0.00042256 QALY relative to the conventional method. CONCLUSION: Including liquid biopsy in the treatment of HER2-positive advanced breast cancer was considered currently inapplicable in Colombia because it was not cost effective. Our results open a window of opportunity to improve the development and implementation of ctDNA testing in Colombia, potentially reducing current costs. More evidence is required on the utility of this test, depending on the financial capacity of Colombia and other countries.

The complete mitogenome of the Eastern Pacific sponge Aplysina gerardogreeni (Demospongiae, Verongida, Aplysinidae).

We report the first mitochondrial genome of a Verongid sponge, Aplysina gerardogreeni from the Pacific Ocean. This has 19,620 bp and includes 14 protein-coding genes, 2 rRNAs genes, and 25 tRNAs genes. The gene arrangement was similar to the one found in two Caribbean Aplysina mitogenomes previously reported. Comparative analyses revealed a few substitutions among congeneric mitogenomes. The mitogenome of A. gerardogreeni could be useful to study the evolution of Verongimorpha group and also to identify adequate genes for its molecular systematics.

Exenatide regulates pancreatic islet integrity and insulin sensitivity in the nonhuman primate baboon Papio hamadryas.

The glucagon-like peptide-1 receptor agonist exenatide improves glycemic control by several and not completely understood mechanisms. Herein, we examined the effects of chronic intravenous exenatide infusion on insulin sensitivity, ß cell and α cell function and relative volumes, and islet cell apoptosis and replication in nondiabetic nonhuman primates (baboons). At baseline, baboons received a 2-step hyperglycemic clamp followed by an l-arginine bolus (HC/A). After HC/A, baboons underwent a partial pancreatectomy (tail removal) and received a continuous exenatide (n = 12) or saline (n = 12) infusion for 13 weeks. At the end of treatment, HC/A was repeated, and the remnant pancreas (head-body) was harvested. Insulin sensitivity increased dramatically after exenatide treatment and was accompanied by a decrease in insulin and C-peptide secretion, while the insulin secretion/insulin resistance (disposition) index increased by about 2-fold. ß, α, and δ cell relative volumes in exenatide-treated baboons were significantly increased compared with saline-treated controls, primarily as the result of increased islet cell replication. Features of cellular stress and secretory dysfunction were present in islets of saline-treated baboons and absent in islets of exenatide-treated baboons. In conclusion, chronic administration of exenatide exerts proliferative and cytoprotective effects on ß, α, and δ cells and produces a robust increase in insulin sensitivity in nonhuman primates.

Latin American Study of Hereditary Breast and Ovarian Cancer LACAM: A Genomic Epidemiology Approach.

Purpose: Hereditary Breast and Ovarian Cancer (HBOC) syndrome is responsible for ~5-10% of all diagnosed breast and ovarian cancers. Breast cancer is the most common malignancy and the leading cause of cancer-related mortality among women in Latin America (LA). The main objective of this study was to develop a comprehensive understanding of the genomic epidemiology of HBOC throughout the establishment of The Latin American consortium for HBOC-LACAM, consisting of specialists from 5 countries in LA and the description of the genomic results from the first phase of the study. Methods: We have recruited 403 individuals that fulfilled the criteria for HBOC from 11 health institutions of Argentina, Colombia, Guatemala, Mexico and Peru. A pilot cohort of 222 individuals was analyzed by NGS gene panels. One hundred forty-three genes were selected on the basis of their putative role in susceptibility to different hereditary cancers. Libraries were sequenced in MiSeq (Illumina, Inc.) and PGM (Ion Torrent-Thermo Fisher Scientific) platforms. Results: The overall prevalence of pathogenic variants was 17% (38/222); the distribution spanned 14 genes and varied by country. The highest relative prevalence of pathogenic variants was found in patients from Argentina (25%, 14/57), followed by Mexico (18%, 12/68), Guatemala (16%, 3/19), and Colombia (13%, 10/78). Pathogenic variants were found in BRCA1 (20%) and BRCA2 (29%) genes. Pathogenic variants were found in other 12 genes, including high and moderate risk genes such as MSH2, MSH6, MUTYH, and PALB2. Additional pathogenic variants were found in HBOC unrelated genes such as DCLRE1C, WRN, PDE11A, and PDGFB. Conclusion: In this first phase of the project, we recruited 403 individuals and evaluated the germline genetic alterations in an initial cohort of 222 patients among 4 countries. Our data show for the first time in LA the distribution of pathogenic variants in a broad set of cancer susceptibility genes in HBOC. Even though we used extended gene panels, there was still a high proportion of patients without any detectable pathogenic variant, which emphasizes the larger, unexplored genetic nature of the disease in these populations.

The complete mitochondrial genome of the giant electric ray, Narcine entemedor (Elasmobranchii: Torpediniformes).

The complete mitochondrial genome of the giant electric ray is 17,081 bp long (GenBank accession KM386678) and includes 2 ribosomal RNA, 22 transfer RNA, 13 protein-coding genes, an origin of replication, 2 non-coding regions. The mitochondrial gene arrangement is similar to that found in other batoids. The control region possessed a set of tandem repeats. Start codon ATG and stop codon TAA/T were found in most protein-coding genes. The base composition of the genome is 36.2% A, 29.9% T, 21.9% C, and 11.9% G.

The mitochondrial genome of the banded guitarfish, Zapteryx exasperata (Jordan and Gilbert, 1880), possesses a non-coding duplication remnant region.

The complete mitochondrial genome of the banded guitarfish is 17,310 bp long and includes 2 ribosomal RNA, 22 transfer RNA, and 13 protein-coding genes, a replication origin and a control region (GenBank accession number KM370325). Gene arrangement is similar to that found in other batoids. An extra non-coding region was found between the genes coding for transfer RNA proline and threonine possessing a set of tandem repeat motifs pointing to its origin as a duplication remnant. Start codon ATG and stop codon TAA/T were found in most protein-coding genes. The base composition of the genome is 32.3% A, 30.2% T, 24.3% C and 13.1% G.

Complete mitochondrial genome of the beaubrummel Damselfish, Stegastes flavilatus (Pisces: Perciformes, Pomacentridae).

The mitogenome of the beaubrummel damselfish, Stegastes flavilatus Gill, 1862 (Genebank accession number KP136922), has a total length of 16,816 bp. It encodes 13 protein-coding, two ribosomal RNAs (rRNAs), and 22 transfer RNA (tRNA) genes. Base composition is 28.6% A, 26.0% T, 29.8% C, and 15.7% G and 45.5% GC content. The gene arrangement was found to be the same of other pomacentrid mitogenomes.

La biopsia líquida en el diagnóstico y monitoreo de pacientes oncológicos: Oportunidades y retos en Latinoamérica / Liquid biopsy in the diagnosis and monitoring of cancer patients: opportunities and challenges in Latin America

Resumen En los últimos años el estudio de los ácidos nucleicos circulantes ha tenido grandes avances en el campo de la oncología, lo que ha permitido avanzar de forma importante en las aplicaciones clínicas de la biopsia líquida en diferentes áreas como el pronóstico, la estadificación, la predicción de recurrencia, la selección y monitorización de tratamientos, entre otros. Lo anterior se debe en gran parte al desarrollo de nuevas y mejores tecnologías, algunas de las cuales incluso han sido autorizadas para el diagnóstico y seguimiento clínico de ciertos tipos de cáncer. No obstante, la utilización de la biopsia líquida como herramienta de apoyo clínico sigue siendo objeto de estudio. Debido a la importancia que ha cobrado este avance tecnológico a nivel mundial, se realizó una revisión de literatura con el fin de establecer el estado actual del uso de biopsia líquida en oncología, así como sus aplicaciones clínicas actuales, con un énfasis en Latinoamérica.

Abstract In recent years, the study of circulating nucleic acids has made great progress in the field of oncology, allowing for significant advances in clinical applications of liquid biopsy in diverse areas such as prognosis, staging, recurrence prediction, selection and monitoring of treatments, among others. This advance is largely due to the development of new and better technologies, some of which have even been validated for the diagnosis and clinical follow-up of certain types of cancer. However, the use of liquid biopsy as an additional tool in clinical oncology remains under study. Given the worldwide importance of this technological advance, a literature review was conducted to establish the current status of the use of liquid biopsy in oncology, as well as its current clinical applications, with a particular focus on Latin America.

Effects of 4-methylpyrazole on ethanol neurobehavioral toxicity in CD-1 mice.

OBJECTIVES: 4-Methylpyrazole (4-MP), an alcohol dehydrogenase (ADH) antagonist, is used for the treatment of ethylene glycol and methanol ingestions. However, ethanol is frequently co-ingested by those who ingest these more toxic alcohols. Several in vitro and in vivo studies have shown a decrease in the elimination rate of ethanol after the administration of 4-MP, but none has evaluated the effects of 4-MP administration on the neurobehavioral toxicity of ethanol. This was a study to determine whether ADH blockade with 4-MP prolongs ethanol neurobehavioral toxicity in a murine model. METHODS: D-1 mice were pretreated with 4-MP, with observation of its effect on ethanol dose-response curves. 4-MP (25 mg/kg) or an equal volume of saline was administered intraperitoneally. Ten minutes later, incremental ethanol doses of 1-5 g/kg were administered intraperitoneally. Pretreated and control groups were composed of ten mice each for each dose of ethanol tested. Outcomes for assessing ethanol neurobehavioral toxicity were successful performance on the rotarod test and presence of the righting reflex, two established and validated outcome measures for ethanol-induced neurobehavioral toxicity in mice. RESULTS: The dose of ethanol at which 50% of the animals failed a particular outcome test (toxic dose 50 [TD(50)]) was decreased with 4-MP administration for both the rotarod test and the righting reflex. The TD(50) intergroup differences (control vs. 4-MP) were statistically significant at 60, 120, and 180 minutes (p < 0.05). CONCLUSIONS: Pretreatment with 4-MP significantly prolonged ethanol neurobehavioral toxicity in CD-1 mice, presumably by inhibiting its metabolism by ADH. Further investigation is warranted to evaluate this interaction.

Importancia de una propuesta para la implementación de un programa de tamizaje neonatal expandido en Colombia / Importance of a Proposal for Implementing an Expanded Neonatal Screening Program in Colombia / Importância de uma proposta para a implementação de um programa de triagem neonatal ampliada na colômbia

Resumen: El tamizaje neonatal expandido permite la detección temprana de diversos errores innatos del metabolismo. En Colombia, las condiciones para llevar adelante un programa nacional de alto impacto en salud pública están dadas. A través de una búsqueda bibliográfica sobre el tema en diferentes países, se realizó una disertación sobre la implementación de un programa nacional de tamizaje neonatal. Esto con el fin de plantear una propuesta de tamizaje neonatal expandido por espectrometría de masas en tándem en Colombia, completo, conciso, detallado y acorde con la legislación colombiana, las necesidades y las características de la población. Implementar un programa nacional de este tipo supone un gran impacto en la salud pública y debe ser liderado por el Estado, con la participación y apoyo de profesionales de salud, academia, asociaciones de pacientes e industria farmacéutica.

Abstract: Expanded neonatal screening allows early detection of various inborn errors of metabolism. In Colombia, the conditions to carry out a national program with a high impact on public health are in place. Through a review of the international literature on the subject, this reflection on the implementation of a national neonatal screening program brings forward a complete, concise, detailed proposal for tandem mass spectrometry-expanded neonatal screening in Colombia that conforms to the legislation and the needs and characteristics of the population. Implementing such a national program has a great impact on public health and must be led by the State, with the participation and support of health professionals, academia, patient associations, and the pharmaceutical industry.

Resumo: A triagem neonatal ampliada permite que vários erros inatos do metabolismo sejam identificados precocemente. Na Colômbia, as condições para a realização de um programa nacional com alto impacto na saúde pública estão disponíveis. Por meio de uma pesquisa bibliográfica sobre o assunto em diferentes países, foi realizada uma dissertação sobre a implementação de um programa nacional de triagem neonatal. A fim de apresentar uma proposta de triagem neonatal ampliada por espectrometria de massas em tandem na Colômbia, completa, concisa, detalhada e de acordo com a legislação colombiana, as necessidades e as características da população. A implementação de um programa nacional desse tipo tem um grande impacto na saúde pública e deve ser liderada pelo Estado, com a participação e o apoio de profissionais da saúde, da academia, das associações de pacientes e da indústria farmacêutica.