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We present the case of a 7-year-old Ecuadorian mestizo girl with multiple orofacial malformations. The patient is the product of a first-degree relationship (father–daughter). A cytogenetic study revealed a normal karyotype. The genetic mapping array study identified 0.73 Gb of alterations, 727,087,295 bp involved in regions of homozygosity (ROH) in all chromosomes (25.2% of the genome) and 764,028 bp in gains in chromosomes 9 and 14. Genes from the TGFB, BMP, FGF, SHH and WNT families, among others, were identified in the ROH. They are related to craniofacial development and their protein products showed a strong association in the interactome analysis. [ABSTRACT FROM AUTHOR]

In recent years, increasing resistance of Bacteroides fragilis to several antibiotics has been reported in different countries. The aim of this study was to evaluate the antibiotic resistance profiles of Bacteroides spp. isolated from clinical samples by phenotypic and molecular methods. A total of 40 nonrepetitive isolates of the B. fragilis group were studied from 2018 to 2019. The species was identified by API 20A system. The minimum inhibitory concentrations (MICs) were determined by Sensititre anaerobe MIC plate. The presence of the nim and cfiA genes was checked by conventional PCR. The association between genes and insertion sequence (IS) was performed by whole genome sequencing. Eleven isolates were categorized as metronidazole-resistant and only 2 isolates harbored the nim gene. Five isolates were imipenem-resistant, but cfiA gene was detected in two isolates. cfiA gene was closely related to the cfiA-4 allele and associated with IS614B. The nim gene was not related to any nim gene type and was considered a new variant named nimL. IS612 was found upstream of nimL gene. In view of the scarcity of data on B. fragilis, there is a need to surveil antibiotic resistance levels and molecular mechanisms to implement better antimicrobial therapies against this important group of bacteria. [ABSTRACT FROM AUTHOR]

Objective: To determine the frequency of genetic syndromes and childhood neurodevelopmental impairment in non‐malformed infants born at term with severely low birth weight and no evidence of placental insufficiency. Methods: This case series was constructed from the data of infants delivered at term between 2013 and 2018 with severely low birth weight, defined as birth weight more than 2.5 SD below the mean, with normal maternal and fetal Doppler (umbilical artery, fetal middle cerebral artery, cerebroplacental ratio and uterine artery) and no maternal hypertensive disorder during pregnancy or fetal structural anomaly on prenatal ultrasound examination. Clinical exome sequencing and copy number variation (CNV) analysis were performed using DNA extracted from the children's saliva. Cognitive and psychomotor development was evaluated using the Bayley Scales of Infant and Toddler Development, 3rd edition or the Wechsler Intelligence Scale for Children, 5th edition tests, according to the child's age at testing. Results: Among the 36 405 infants born within the study period, 274 (0.75%) had a birth weight below –2.5 SD, of whom 98 met the inclusion criteria. Among the 63 families contacted, seven (11%) reported a postnatal diagnosis of a genetic syndrome and a further 18 consented to participate in the study. Median gestational age at delivery was 38.0 (interquartile range (IQR), 37.3–38.5) weeks and median birth weight was 2020 (IQR, 1908–2248) g. All 18 children showed a normal result on clinical exome sequencing and CNV analysis, but six (33%) obtained a low score on neurodevelopmental testing. Conclusion: Non‐malformed severely small term infants with no clinical or Doppler signs of placental insufficiency present a high rate of genetic syndromes and neurodevelopmental impairment during childhood. © 2023 The Authors. Ultrasound in Obstetrics & Gynecology published by John Wiley & Sons Ltd on behalf of International Society of Ultrasound in Obstetrics and Gynecology. Linked article: There is a comment on this article by Chen and Li. Click here to view the Correspondence. [ABSTRACT FROM AUTHOR]

Objective: To evaluate the transgenerational transmission of small-for-gestational age (SGA).Methods: This was a cohort study of a random sample of 2043 offspring delivered between 1975 and 1993 at Hospital Sant Joan de Déu in Barcelona. Exclusion criteria were multiple pregnancy, aneuploidy or genetic syndrome, major birth defects, severe mental disease and macrosomia. Eligible individuals were contacted and those with at least one offspring were included in the study. Participants were classified according to the presence of SGA (defined as birth weight < 10th percentile) at birth. Multiple regression analysis was used to determine the presence of SGA or placenta-mediated disease (defined as the presence of SGA, pre-eclampsia, gestational hypertension and/or placental abruption) in the following generation.Results: Of 623 individuals who agreed to participate, 152 (72 born SGA and 80 born appropriate-for-gestational age (AGA)) were reported to have at least one child. Descendants of SGA individuals presented with a lower birth-weight percentile (median, 26 (interquartile range (IQR), 7-52) vs 43 (IQR, 19-75); P < 0.001) and a higher prevalence of SGA (40.3% vs 16.3%; P = 0.001) and placenta-mediated disease (43.1% vs 17.5%; P = 0.001) than did the offspring of AGA individuals. After adjustment for confounding variables, parental SGA background was associated with an almost three-fold increased risk of subsequent SGA or any placenta-mediated disease in the following generation. This association was stronger in SGA mothers than in SGA fathers.Conclusions: Our data provide evidence suggesting a transgenerational transmission of SGA, highlighting the importance of public health strategies for preventing intrauterine growth impairment. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

The fundamental pillars of science are scientific research, technology and innovation (S+T+I). Without the development of each of these aspects, the results and scientific contributions of a country are limited. In Ecuador, the reality is very complex. Not only is the funding scarce, but it is not aligned with the current lines of research and researchers' specialty, accompanied by noncompliance with state policies and offers. In this environment, the participation of women could find limitations. Even so, we can verify that the level and impact of the publications between genres are balanced. We must strengthen science in Ecuador to place ourselves at the levels of other countries. [ABSTRACT FROM AUTHOR]

The incidence of cystic fibrosis (CF) and the frequency of the variants reported for CFTR depend on the population; furthermore, CF symptomatology is characterized by obstructive lung disease and pancreatic insufficiency among other symptoms, which are reliant on the individual's genotype. The Ecuadorian population is a mixture of Native Americans, Europeans, and Africans. That population admixture could be the reason for the new mutations reported in a previous study by Ruiz et al. (2019). A panel of 46 Ancestry Informative Markers was used to estimate the ancestral proportions of each available sample (12 samples in total). As a result, the Native American ancestry proportion was the most prevalent in almost all individuals, except for three patients from Guayaquil with the mutation [c.757G>A:p.Gly253Arg; c.1352G>T:p.Gly451Val] who had the highest European composition. [ABSTRACT FROM AUTHOR]

Objective: To assess the frequency of atypical chromosomal and submicroscopic anomalies, as well as fetal structural abnormalities, observed on first-trimester ultrasound scan in fetuses with nuchal translucency (NT) thickness > 99th centile, in order to evaluate the suitability of using standard cell-free DNA (cfDNA) testing as the sole screening test in these pregnancies.Methods: This was a retrospective cohort study of 226 fetuses with NT > 99th centile at 11-14 weeks' gestation, between January 2013 and December 2017, in a clinical setting in which greater than 95% of pregnant women receive first-trimester combined screening. All patients underwent genetic testing by means of quantitative fluorescence polymerase chain reaction and chromosomal microarray analysis, mainly in chorionic villus samples. We assessed the theoretical yield of two cfDNA testing models, targeted cfDNA (chromosomes 21, 18 and 13) and extended cfDNA (chromosomes 21, 18, 13 and sex chromosomes), and compared it with that of cytogenetic testing and ultrasound assessment in the first and second or third trimesters.Results: In the 226 fetuses analyzed, cytogenetic testing revealed 84 (37%) anomalies, including 68 typical aneuploidies (involving chromosomes 13, 18 or 21), six sex chromosome aneuploidies (four cases of monosomy X and two of trisomy X), three clinically relevant atypical chromosomal anomalies (one trisomy 22, one trisomy 21 mosaicism and one unbalanced translocation), five submicroscopic pathogenic variants and two cases with Noonan syndrome. Targeted and extended cfDNA testing would miss at least 12% (10/84) and 19% (16/84), respectively, of genetic anomalies, accounting for 4.4% and 7.1% of the fetuses with an increased NT, respectively. Finally, of the 142 fetuses with no identified genetic anomaly, a major fetal malformation was observed in 15 (10.6%) fetuses at the early anomaly scan, and in 19 (13.4%) in the second or third trimester.Conclusions: cfDNA does not appear to be the appropriate genetic test in fetuses with NT > 99th centile, given that it would miss 12-19% of genetic anomalies in this group. Additionally, first-trimester ultrasound will identify a major structural abnormality in 11% of the fetuses with NT > 99th centile and no genetic anomaly. Copyright © 2019 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Breast cancer (BC) is the leading cause of cancer-related death among women and the most commonly diagnosed cancer worldwide. Although in recent years large-scale efforts have focused on identifying new therapeutic targets, a better understanding of BC molecular processes is required. Here we focused on elucidating the molecular hallmarks of BC heterogeneity and the oncogenic mutations involved in precision medicine that remains poorly defined. To fill this gap, we established an OncoOmics strategy that consists of analyzing genomic alterations, signaling pathways, protein-protein interactome network, protein expression, dependency maps in cell lines and patient-derived xenografts in 230 previously prioritized genes to reveal essential genes in breast cancer. As results, the OncoOmics BC essential genes were rationally filtered to 140. mRNA up-regulation was the most prevalent genomic alteration. The most altered signaling pathways were associated with basal-like and Her2-enriched molecular subtypes. RAC1, AKT1, CCND1, PIK3CA, ERBB2, CDH1, MAPK14, TP53, MAPK1, SRC, RAC3, BCL2, CTNNB1, EGFR, CDK2, GRB2, MED1 and GATA3 were essential genes in at least three OncoOmics approaches. Drugs with the highest amount of clinical trials in phases 3 and 4 were paclitaxel, docetaxel, trastuzumab, tamoxifen and doxorubicin. Lastly, we collected ~3,500 somatic and germline oncogenic variants associated with 50 essential genes, which in turn had therapeutic connectivity with 73 drugs. In conclusion, the OncoOmics strategy reveals essential genes capable of accelerating the development of targeted therapies for precision oncology. [ABSTRACT FROM AUTHOR]

We thank Drs Chen and Li for the opportunity to clarify further details of our study[1] and agree with the sentiment expressed in the first and final paragraphs of their commentary. Of the 18 cases that consented to exome sequencing and neurodevelopmental assessment, only seven women had undergone prenatal invasive diagnostic testing, with normal karyotyping ( I n i = 2) or chromosome microarray analysis ( I n i = 5) results. To address the first query regarding the number of patients that underwent genetic testing (exome sequencing and copy-number-variation analysis), we refer Drs Chen and Li to our original manuscript, in which we explain that only seven (11%) of the 63 mothers/couples contacted reported a postnatal diagnosis of a genetic syndrome. [Extracted from the article]

Background: Since 1969, 49 cases have been presented on ring chromosome 4. All of these cases have been characterized for the loss of genetic material. The genes located in these chromosomal regions are related to the phenotype. Case presentation: A 10-year-old Ecuadorian Mestizo girl with ring chromosome 4 was clinically, cytogenetically and molecularly analysed. Clinical examination revealed congenital anomalies, including microcephaly, prominent nose, micrognathia, low set ears, bilateral clinodactyly of the fifth finger, small sacrococcygeal dimple, short stature and mental retardation. Cytogenetic studies showed a mosaic karyotype, mos 46,XX,r(4)(p16.3q35.2)/46,XX, with a ring chromosome 4 from 75 to 79% in three studies conducted over ten years. These results were confirmed by fluorescence in situ hybridization (FISH). Loss of 1.7 Mb and gain of 342 kb in 4p16.3 and loss of 3 Mb in 4q35.2 were identified by high-resolution mapping array. Conclusion: Most cases with ring chromosome 4 have deletion of genetic material in terminal regions; however, our case has inv dup del rearrangement in the ring chromosome formation. Heterogeneous clinical features in all cases reviewed are related to the amount of genetic material lost or gained. The application of several techniques can increase our knowledge of ring chromosome 4 and its deviations from typical "ring syndrome." [ABSTRACT FROM AUTHOR]

Entamoeba histolytica is one of the least understood protists in terms of taxa, clone, and kin discrimination/recognition ability. However, the capacity to tell apart same or self (clone/kin) from different or nonself (nonclone/nonkin) has long been demonstrated in pathogenic eukaryotes like Trypanosoma and Plasmodium, free‐living social amebas (Dictyostelium, Polysphondylium), budding yeast (Saccharomyces), and in numerous bacteria and archaea (prokaryotes). Kin discrimination/recognition is explained under inclusive fitness theory; that is, the reproductive advantage that genetically closely related organisms (kin) can gain by cooperating preferably with one another (rather than with distantly related or unrelated individuals), minimizing antagonism and competition with kin, and excluding genetic strangers (or cheaters = noncooperators that benefit from others' investments in altruistic cooperation). In this review, we rely on the outcomes of in vitro pairwise discrimination/recognition encounters between seven Entamoeba lineages to discuss the biological significance of taxa, clone, and kin discrimination/recognition in a range of generalist and specialist species (close or distantly related phylogenetically). We then focus our discussion on the importance of these laboratory observations for E. histolytica's life cycle, host infestation, and implications of these features of the amebas' natural history for human health (including mitigation of amebiasis). [ABSTRACT FROM AUTHOR]

In line with the proposals made by Hector Abad Gomez, in this text, the authors question the role of higher education of our times, contributing elements to transcend from a domesticated functionalist public health. In here, we call for a university as a space of social self-awareness, in which intercultural thinking could be possible, constructed working close together with communities, and which may be able to produce a radical critique of a voracious market society. It draws the attention on the social determination of science and the critical moment that public health is currently facing, subordinated to a biomedical drug model and a predominant thinking of branches. To transcend from a hegemonic public health and construct a decolonized university obligates rethinking the way to construct the object of "Healthcare" and the way to think about it; it implies the development of a radical critical thought regarding the commodification of life, and the recovery of our own knowledge and wisdom. This is the challenge of collective Latin American Healthcare in the 21st century. [ABSTRACT FROM AUTHOR]

This study aims to establish the current state of the IT-15 ( HTT) gene in different Ecuadorian ethnic groups and patients by determining CAG triplet repeats, compared with the ethnicity of individuals. A total of 412 individuals were studied using nested polymerase chain reaction and Sanger sequencing: 75 individuals were indigenous (Kichwas), 211 mestizos, and 65 Afro-Ecuadorians. We included 31 patients who were clinically diagnosed with Huntington's disease (HD) and relatives of the affected patients ( n = 30). Moreover, we correlated the presence of HD in Ecuadorian patients with 46 genetic ancestry-informative insertion-deletion polymorphic markers. We found that 77.20% had <28 CAG repetitions, 18.80% had mutable alleles, 2.27% had incomplete penetrance, and 1.70% reflected >39 repetitions. The average of CAG repetitions was 24 ± 3 for indigenous people; 28 ± 2 for mestizos; and 24 ± 3.2 repetitions for the Afro-Ecuadorians. The ancestral component showed that the main ancestry corresponded to Native Americans (0.873) and European ascendants (0.145), Africans were less represented in the evaluated population (0.018). There was a significant difference between the number of CAG repeats in mestizos and indigenous people ( P < .01), suggesting that the Ecuadorian mestizo population has a risk factor for the gene mutation. [ABSTRACT FROM AUTHOR]

• Post-processing of a high-performance raytracing. • Design that simultaneously considerates multiple receivers. • Visual-based decision making. • Speech clarity is strongly influenced by absorber placement (case study No. 1). • A box-within-a-box reflector design is proposed (case study No. 2). We present a new graphical representation of multiple reflections for the acoustic refurbishment of rooms with low clarity values. This representation shows the spatial, temporal, and energy distribution of the incident reflections on a large number of receivers. It is based on a high-performance raytracing operation visualized on a panoramic Mollweide projection. The result is an abstract depiction that could not be measured with an acoustic camera. This representation method is used through two case studies of acoustic refurbishment: In the first one, to determine the ideal location of absorbent panels and in the second one, to improve the shape of a reflecting device in a chapel. In both cases, the images aid the designer to identify the best solution and to adapt it to the specific constraints of the project. [ABSTRACT FROM AUTHOR]

Objective Lactase persistence (LP) is an adaptive trait that certain human populations have acquired in response to lactose consumption in adulthood. The T- 13910 variant has been reported as a causal polymorphism in Europeans. The Ecuadorian population has been described as multicultural and multiethnic, comprised of three main ethnic groups (Mestizo, Native Amerindian, and Afro-Ecuadorian). The aim of the study was to identify the molecular basis of LP in these admixed populations for the first time and determine the association between the T- 13910 marker and the European ancestry proportion of each ethnic group. Methods Genotyping was performed in 741 Ecuadorian individuals by sequencing a 576 bp region around the -13910 position upstream of the LCT gene. The ancestry proportions of Mestizo, Afro-Ecuadorian, and Native Amerindians were calculated using Ancestry Informative Markers and were compared with the diversity panel of the Human Genome Diversity Project. Results LP prevalence calculated from T- 13910 allele frequency in Mestizo, Afro-Ecuadorian, and Native Amerindians was 24.4%, 16%, and 12.5%, respectively. The ancestry percentage correlated to the admixture proportion of each ethnic group, and the C/T- 13910 genotype frequency was influenced by the European ancestry proportion. Conclusions The presence of the T- 13910 polymorphism in the Ecuadorian population suggested that LP was a trait introduced by European migration and inherited by admixture that occurred during the colonization of South America. This variant was not fixed in a population with a history of admixture, and its allele frequency was proportional to the ancestry proportion of each Ecuadorian ethnic group. Am. J. Hum. Biol. 28:774-781, 2016. © 2016Wiley Periodicals, Inc. [ABSTRACT FROM AUTHOR]

Prostate cancer (PC) is the most frequently diagnosed cancer in Ecuador (15.6%). The androgen receptor gene codes for a protein that has an androgen-binding domain, DNA-binding domain and N-terminal domain, which contains two polymorphic trinucleotide repeats (CAG and GGC). The aim of the present study was to determine whether variations in the number of repetitions of CAG and GGC are associated with the pathological features and the risk of developing PC. The polymorphic CAG and GGC repeat lengths in 108 mestizo patients with PC, 148 healthy mestizo individuals, and 78 healthy indigenous individuals were examined via a retrospective case-control study. Genotypes were determined by genomic sequencing. The results demonstrated that patients with ≤21 CAG repeats have an increased risk of developing PC [odds ratio (OR)=2.99, 95% confidence interval (CI) =1.79-5.01; P<0.001]. The presence of ≤21 CAG repeats was also associated with a tumor stage ≥T2c (OR=4.75; 95% CI=1.77-12.72; P<0.005) and a Gleason score ≥7 (OR=2.9; 95% CI=1.1-7.66; P=0.03). In addition, the combination of ≤21 CAG and ≥17 GGC repeats was associated with the risk of developing PC (OR=2.42; 95% CI=1.38-4.25; P=0.002) and with tumor stage ≥T2c (OR=2.77; 95% CI=1.13-6.79; P=0.02). In conclusion, the histopathological characteristics and PC risk in Ecuadorian indigenous and mestizo populations differs in association with the CAG repeats, and the combination of CAG and GGC repeats. [ABSTRACT FROM AUTHOR]

During four decades (1960-1990s), the conceptualization and experimental design of studies in kin recognition relied on work with multicellular eukaryotes, particularly Unikonta (including invertebrates and vertebrates) and some Bikonta (including plants). This pioneering research had an animal behavior approach. During the 2000s, work on taxa-, clone- and kin-discrimination and recognition in protists produced genetic and molecular evidence that unicellular organisms (e.g. Saccharomyces, Dictyostelium, Polysphondylium, Tetrahymena, Entamoeba and Plasmodium) could distinguish between same (self or clone) and different (diverse clones), as well as among conspecifics of close or distant genetic relatedness. Here, we discuss some of the research on the genetics of kin discrimination/recognition and highlight the scientific progress made by switching emphasis from investigating multicellular to unicellular systems (and backwards). We document how studies with protists are helping us to understand the microscopic, cellular origins and evolution of the mechanisms of kin discrimination/recognition and their significance for the advent of multicellularity. We emphasize that because protists are among the most ancient organisms on Earth, belong to multiple taxonomic groups and occupy all environments, they can be central to reexamining traditional hypotheses in the field of kin recognition, reformulating concepts, and generating new knowledge. [ABSTRACT FROM AUTHOR]

Studies on clone- and kin-discrimination in protists have proliferated during the past decade. We report clone-recognition experiments in seven Entamoeba lineages ( E. invadens IP-1, E. invadens VK-1: NS, E. terrapinae, E. moshkovskii Laredo, E. moshkovskii Snake, E. histolytica HM-1: IMSS and E. dispar). First, we characterized morphometrically each clone (length, width, and cell-surface area) and documented how they differed statistically from one another (as per single-variable or canonical-discriminant analyses). Second, we demonstrated that amebas themselves could discriminate self (clone) from different (themselves vs. other clones). In mix-cell-line cultures between closely-related ( E. invadens IP-1 vs. E. invadens VK-1: NS) or distant-phylogenetic clones ( E. terrapinae vs. E. moshkovskii Laredo), amebas consistently aggregated with same-clone members. Third, we identified six putative cell-signals secreted by the amebas (RasGap/Ankyrin, coronin- WD40, actin, protein kinases, heat shock 70, and ubiquitin) and which known functions in Entamoeba spp. included: cell proliferation, cell adhesion, cell movement, and stress-induced encystation. To our knowledge, this is the first multi-clone characterization of Entamoeba spp. morphometrics, aggregative behavior, and cell-signaling secretion in the context of clone-recognition. Protists allow us to study cell-cell recognition from ecological and evolutionary perspectives. Modern protistan lineages can be central to studies about the origins and evolution of multicellularity. [ABSTRACT FROM AUTHOR]

Genetics and genomic medicine in Ecuador. [ABSTRACT FROM AUTHOR]

The incompatibility between science and the belief in supernatural causation helps us understand why people do not accept evolution. Belief disrupts, distorts, delays, or stops (3Ds + S) the acceptance of scientific evidence. Here we examine the evolution controversy under three predictions of the incompatibility hypothesis. First, chronologicalconflict- and-accommodation, which explains the historical re-emergence of antagonism between evolution and religion when advances in science continue to threaten the belief in supernatural causation; in such situations, creationists' rejection of and subsequent partial acceptance of the new scientific discoveries are expected. Second, change in evolution's acceptance as function of educational attainment, which explains the positive association between acceptance of evolution and level of education. And third, change in evolution's acceptance as function of religiosity, which explains the negative association between acceptance of evolution and level of religious beliefs. We rely on an ample assessment of the attitudes toward evolution by highly-educated audiences (i.e. research faculty, educators of prospective teachers, and college students in the United States) to characterize the associations among the understanding of science and evolution, personal religious convictions, and conservative ideology. We emphasize that harmonious coexistence between science and religion is illusory. If co-persisting in society, their relationship will fluctuate from moderate to intense antagonism. [ABSTRACT FROM AUTHOR]

Objective The frequency of GJB2 mutations and of the del( GJB6 -D13S1830) mutation has not been established among the Ecuadorian mestizo population diagnosed with autosomal recessive non-syndromic hearing loss. A genetic analysis was therefore designed in order to do so. Methods The sample population included 111 subjects of which 26 were autosomal recessive non-syndromic hearing loss probands. Posterior to PCR amplification, sequencing analysis of exon 2 was used for mutational detection of the GJB2 gene; a multiplex PCR method was used for detection of the del( GJB6 -D13S1830) mutation. The ratio of subjects with a certain state of the mutation (heterozygous/homozygous) is expressed as a percentage and significant differences between probands and controls were calculated using Fisher's exact test; P < 0.05 was considered significant. Results A total of 104 mutations belonging to 8 allelic variations were identified. The most common being the V27I (58.9%); however, as this variation is a non-pathogenic polymorphism, Q7X, with a total of 19 mutated alleles, was the most frequent mutation (18.3%). The V27I polymorphism was the only variation distributed homogenously among probands and controls ( P = 0.351). Based on physical analyses of multiple patients we confirm that Q7X causes a non-syndromic form of hearing loss and propose that it is a possible predominant mutation in the Ecuadorian population. Conclusions This is the first study of its kind among the Ecuadorian population and a preliminary step in establishing GJB2 and del( GJB6 -D13S1830) mutational frequencies in this population; it is also the first to report of such a high frequency of the Q7X mutation. The data presented here brings Ecuador a step closer to providing more efficient treatment for a broader number of patients; additionally, it contributes to a better understanding of the relationship between autosomal recessive non-syndromic hearing loss and mutations on the GJB2 gene. [ABSTRACT FROM AUTHOR]

Persistent difficulties in resolving clear lineages in diverging populations of prokaryotes or unicellular eukaryotes (protistan polyphyletic groups) are challenging the classical species concept. Although multiple integrated approaches would render holistic taxonomies, most phylogenetic studies are still based on single-gene or morphological traits. Such methodologies conceal natural lineages, which are considered 'cryptic.' The concept of species is considered artificial and inadequate to define natural populations. Social organisms display differential behaviors toward kin than to nonrelated individuals. In 'social' microbes, kin discrimination has been used to help resolve crypticity. Aggregative behavior could be explored in a nonsocial protist to define phylogenetic varieties that are considered 'cryptic.' Two Entamoeba invadens strains, IP-1 and VK-1:NS are considered close populations of the same 'species.' This study demonstrates that IP-1 and VK-1:NS trophozoites aggregate only with alike members and discriminate members of different strains based on behavioral and chemical signals. Combined morphological, behavioral/chemical, and ecological studies could improve Archamoebae phylogenies and define cryptic varieties. Evolutionary processes in which selection acted continuously and cumulatively on ancestors of Entamoeba populations gave rise to chemical and behavioral signals that allowed individuals to discriminate nonpopulation members and, gradually, to the emergence of new lineages; alternative views that claim a 'Designer' or 'Creator' as responsible for protistan diversity are unfounded. [ABSTRACT FROM AUTHOR]

ABSTRACT The controversy evolution vs. creationism is inherent to the incompatibility between scientific rationalism/empiricism and the belief in supernatural causation. To test this hypothesis, we conceptualized a Cartesian landscape where the dependent variable acceptance of evolution was plotted as function of three factors, each represented by an index (value range 0 to 3): Religiosity Index ( RI), Science Index ( SI), and Evolution Index ( EI). The indexes summarized an individual's personal religious convictions, familiarity with the processes and forces of change in organisms (= concept of evolution), and understanding the essence of science (= method to explore reality). We compared and contrasted acceptance of evolution among four populations of variable educational attainment: 244 professors of New England, United States (93% Ph.D./doctorate holders), 50 protistologists from 25 countries (70% Ph.D./doctorate holders), 62 educators of prospective teachers (83% Ph.D./doctorate holders), and 827 college students. The New England faculty held the highest acceptance of evolution position ( RI = 0.49; SI = 2.49; EI = 2.49), followed by the protistologists ( RI = 0.46; SI = 2.30; EI = 2.48), the educators of prospective teachers ( RI = 0.83; SI = 1.96; EI = 1.96), and the students ( RI = 0.89; SI = 1.80; EI = 1.60); therefore, the data supported our hypothesis. Proper science education, public outreach and robust debate over the controversy 'evolution versus creationism' should suffice to improve society's evolution literacy, and qualified scholars ought to lead this mission. [ABSTRACT FROM AUTHOR]

The article discusses various studies related to genotoxicity carried out in Ecuador. It informs that in the cytogenetic studies on blood lymphocytes, somatic mutations of white blood cells were studied. It further states that in the studies related to glyphosate genotoxicity in northeastern Ecuador, Leu allele of the Glutathione peroxidase 1 (GPX-1) gene in individuals exposed to glyphosate was found suggesting a high risk of Deoxyribonucleic acid (DNA) damage and sensitivity to herbicides.

Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population. [ABSTRACT FROM AUTHOR]

Medical genetics is a field marked by fast progress. Even though it was at one point confined to a group of relatively rare diseases, today it has become a central component in the understanding of disorders and it is the subject of interest for all medical specialties. This paper, shares data on the chromosomal alterations and variations that have been diagnosed in Ecuadorian patients since 1998. A total of 2,636 individual cases have been analyzed by G-banding technique until February 2012. The present work shows this collection of data and the important findings that have appeared throughout these years in hopes that it can contribute to have a deeper understanding of the incidence of chromosomal aberrations and alterations in the Ecuadorian population. [ABSTRACT FROM AUTHOR]

Horizontal gene transfer (HGT) and common descent interact in space and time. Because events of HGT co-occur with phylogenetic evolution, it is difficult to depict evolutionary patterns graphically. Tree-like representations of life's diversification are useful, but they ignore the significance of HGT in evolutionary history, particularly of unicellular organisms, ancestors of multicellular life. Here we integrate the reticulated-tree model, ring of life, symbiogenesis whole-organism model, and eliminative pattern pluralism to represent evolution. Using Entamoeba histolytica alcohol dehydrogenase 2 (EhADH2), a bifunctional enzyme in the glycolytic pathway of amoeba, we illustrate how EhADH2 could be the product of both horizontally acquired features from ancestral prokaryotes (i.e. aldehyde dehydrogenase [ALDH] and alcohol dehydrogenase [ADH]), and subsequent functional integration of these enzymes into EhADH2, which is now inherited by amoeba via common descent. Natural selection has driven the evolution of EhADH2 active sites, which require specific amino acids (cysteine 252 in the ALDH domain; histidine 754 in the ADH domain), iron- and NAD+ as cofactors, and the substrates acetyl-CoA for ALDH and acetaldehyde for ADH. Alternative views invoking “common design” (i.e. the non-naturalistic emergence of major taxa independent from ancestry) to explain the interaction between horizontal and vertical evolution are unfounded. [ABSTRACT FROM AUTHOR]

Abstract: Androgens are essential to normal prostate growth and development. It is therefore possible that polymorphisms in the androgen synthesis gene 5α-reductase type II (SRD5A2) may be involved in the progression of prostate tumors. We evaluated the relationship of two single-nucleotide polymorphisms, A49T and V89L, with prostate cancer risk in a case–control study. A total of 114 prostate cancer patients and 144 healthy control males were genotyped. We found highly significant differences between the two polymorphisms, the risk of developing prostate cancer, and some of the clinical-pathologic characteristics. Individuals who carry at least one V allele may have a higher risk of developing prostate cancer [odds ratio (OR) = 7.5, 95% confidence interval (CI) = 2.57–22.08, P<0.001]. In addition, individuals with LL genotype showed reduction in the progression to a higher tumor stage (OR = 0.10, 95%CI = 0.040–0.27, P<0.001). The A49T substitution was associated with a higher pTNM stage (OR = 2.87, 95%CI 1.14–7.21, P = 0.003) and elevated Gleason grade (OR = 3.14, 95%CI = 1.12–8.78; P = 0.004). Furthermore, the allelic frequencies of the A49T variant (33% controls and 45% cases) are the highest reported worldwide. These findings suggest that among the Ecuadorian population, these polymorphisms influence the risk of developing prostate cancer. [Copyright &y& Elsevier]

Currently, it is known that several chemical agents used or generated by the oil industry are classified as mutagens and/or carcinogens. Among these we have gasoline, diesel, butane gas, styrene, benzene, chloroform, and others. Studies have verified that these chemicals have effects in fertility (abortions, sterility); produce various upheavals, such as dizziness, nausea, muscular pain; and produce chromosomal damage at the DNA level, which in the long or medium run, can develop into cancer and leukemia. The genetic damage in exposed individuals was measured by means of the comet test, chromosomal alterations test, and the study of the CYP 1A1 and MSH2 genes. These methods were applied to determine the genotoxicity of hydrocarbons and their residue in human beings. When conducting these tests on the blood samples of individuals exposed to hydrocarbons (workers of oil companies) and of a control population of the area of study and Quito, it was found that, in effect, the exposed individuals presented a greater amount of damage at the DNA level as well as at the chromosomal level than the individuals from the control populations ( P< 0.001). Thus, it can be determined that populations that are exposed to hydrocarbons are susceptible to developing genetic damage. Therefore, risk groups can be determined in certain zones where the oil impact has been greater. [ABSTRACT FROM AUTHOR]

Objetives: The purpose of the present article was to evaluate how shamans and the suburban communities of Quito interpret the terminology used in genetics. Methods: One hundred people living in 5 suburban districts of Quito were surveyed as well as 19 shamans of the Salasaca community. Results: The results show that members of both groups are little informed about genetics. As knowledge about genetics is correlated to educational level, which is very poor in both groups, knowledge and understanding of genetics are either very basic or nonexistent. As for the medical practices in treating genetic alterations, the surveys show that while in very severe cases scientific medicine is sought, in most cases explanations and a cure are given by shamanic medicine. Conclusion: There is limited knowledge of genetics and its terminology in the study population. Shamanic and marginal health practices seem to remain prevalent in these communities due to their low costs, the personal attention the individuals receive, and the holistic point of view employed. It is important that the community councils, the medical doctors and the shamans work together to set up community programs on medical education, particularly on genetics. Copyright © 2006 S. Karger AG, Basel [ABSTRACT FROM AUTHOR]

Living in large, stable social groups is often considered to favour the evolution of enhanced cognitive abilities, such as recognizing group members, tracking their social status and inferring relationships among them. An individual's place in the social order can be learned through direct interactions with others, but conflicts can be time-consuming and even injurious. Because the number of possible pairwise interactions increases rapidly with group size, members of large social groups will benefit if they can make judgments about relationships on the basis of indirect evidence. Transitive reasoning should therefore be particularly important for social individuals, allowing assessment of relationships from observations of interactions among others. Although a variety of studies have suggested that transitive inference may be used in social settings, the phenomenon has not been demonstrated under controlled conditions in animals. Here we show that highly social pinyon jays (Gymnorhinus cyanocephalus) draw sophisticated inferences about their own dominance status relative to that of strangers that they have observed interacting with known individuals. These results directly demonstrate that animals use transitive inference in social settings and imply that such cognitive capabilities are widespread among social species. [ABSTRACT FROM AUTHOR]

DNA damage was measured by using the alkaline comet assay and the chromosomal aberration (CA) test using peripheral blood samples from 45 pesticide sprayers from Cayambe, Ecuador. From a total of approximately 200 nuclei scored for each donor with the comet assay, a highly significant increase in DNA migration was observed when compared with a similar unexposed control population. Additionally, in the CA test, the exposed individuals were found to be significantly different when compared to the control population. Polymorphisms for the CYP 1A1 (Msp I and Ile/Val) in exposed individuals were analyzed by PCR-RFLP and allele-specific PCR techniques. No association was found between the polymorphisms and higher levels of DNA damage as assessed by the comet assay. [Copyright &y& Elsevier]

Ecuador has a population of 12 million inhabitants, composed of a variety of ethnic groups. The majority of the population lives in rural areas. There is a severe deficiency in health services, and most diseases are associated with poor life conditions: malnutrition, parasitic diseases and infections. At the same time, however, chronic diseases, e.g. cancer, have increased in prevalence. Most genetic services are provided by the private sector, which offers clinical genetic consultations and counseling, cytogenetic analyses, a limited number of molecular and biomedical tests, and prenatal diagnosis. Genetic research is centered in the universities of important cities (Quito, Guayaquil and Cuenca). The government sponsors some university research projects but does not conduct health actions in genetics in the community. There is an incipient interest in ethic and legal issues in genetics, such as how to provide modern genomic medicine in a resource-poor country. [ABSTRACT FROM AUTHOR]

This study evaluated DNA damage in human lymphocytes due to occupational exposure to low levels of ionizing radiation using two assays: the comet assay and chromosomal aberration (CA) analysis including and excluding gaps. The results obtained reveal a higher correlation between both methods when chromatid and chromosome gaps were included in the correlation analysis (r=0.78 versus r=0.50). This increased correlation support the hypothesis that the gaps constitute a type of chromosome aberration, and suggest that these events should be scored in this type of analysis. [Copyright &y& Elsevier]

DNA common variants may significantly contribute to genetic risk for common diseases. Because of its biological function in DNA repair, hMSH2 gene polymorphisms are candidates for influencing cancer susceptibility and overall genetic stability. Twenty-two individuals with non-Hodgkin lymphomas (NHL) and 50 normal individuals were screened for polymorphic variants in exon 13 of the hMSH2 mismatch repair gene in order to determine if there is any association with development of lymphomas. The polymorphism screening was carried out by single strand conformation polymorphism analysis and DNA sequencing. We found a single nucleotide polymorphism: a T to C substitution at the –6 intronic splice acceptor site of exon 13 (gIVS12-6T>C). This polymorphism was present in 7.5% of normal individuals (allele frequency = 0.05) and in 22.73% of lymphomas (allele frequency = 0.11) (P<0.01). These results suggest that the polymorphism may be associated with an increased risk to develop NHL and that probably there are differences in the effect of the polymorphisms among populations. [Copyright &y& Elsevier]

Investigates the effects of self-grooming and sibling recognition in meadow voles and prairie voles. Context of sibling recognition; Significance of self-grooming behavior on unfamiliar opposite-sex; Asscoiations of communicative function of self-grooming behavior to social memory for siblings.

A method for rectifying thermograms in perspective captured at human height is proposed. It applies to the image pixel-by-pixel corrections that account for the surface emissivity, the reflected longwave infrared radiation flux, and the radiation emitted and attenuated by the atmosphere. The results are validated in two steps: first by comparison with contact temperature devices and then by comparison with finite element simulations. They give satisfactory results in both cases. The method is illustrated on a canyon-type street located in a dense urban area during a winter period of 24 h. Detailed observation of urban façade surface temperatures opens up new perspectives. Indeed, it allows conclusions to be drawn about the energy behavior of inhabitants by offering a non-intrusive alternative for identifying urban thermal bridges. Furthermore, the combined use of measurement and simulation facilitates the exploration of the thermal and optical properties of the scene. This work contributes significantly to the interpretation of urban metering at human height. It provides essential improvements in the evaluation of errors associated with urban surface temperatures retrieved from remote sensing observations. • Observations of urban surface temperature over 24 h at human height. • Rectification of perspective thermography by raytracing. • Results match very well with contact temperature measurements. • Spatialized information shows good agreement with FEM urban thermal simulations. • The method is a non-intrusive solution for identifying urban thermal bridges. [ABSTRACT FROM AUTHOR]

• Panoramic images are captured in shortwave and longwave to analyze urban scenes. • Setup includes a panoramic head, a standard digital camera and a LWIR thermal camera. • Spatial integration gives the Mean Radiant Temperature. • Results match very well with black globe measurements. • Spatialized information shows the influence of surface texture on urban comfort. In urban climate or thermal comfort, radiative exchanges are often expressed in terms of Mean Radiant Temperature. Considering that a single temperature does not properly represent the radiative environment, an alternative method is proposed here to observe it in depth. This method is giving an alternative for evaluating the urban radiant environment through a measurement that covers a solid angle of 4 π steradians. The results are validated by comparison with those obtained by the black-globe method. The difference is always less than two degrees. This paper proposes the joint use of photographic and LWIR thermal cameras for a radiometric study. Due to the nature of its approach, this method allows for spectral discrimination, in two bands: 380–780 nm and 7.5–13 μm. This encourages the separate analysis of each part of the spectrum as well as the ensemble. Furthermore, the small duration of each measurement opens up the possibility of studying the radiative environment free from disturbances due to the inertia of the measuring device. [ABSTRACT FROM AUTHOR]

Background: Ring chromosome 15 has been associated in previous studies with different clinical characteristic such as cardiac problems, digit and musculoskeletal abnormalities, and mental and motor problems among others. Only 97 clinical cases of ring chromosome 15 syndrome have been reported since 1966 and a common phenotype for these patients has not been established.Case Presentation: The present case report describes a 15-month-old girl from the Amazon region of Ecuador, of Mestizo ancestry, who after cytogenetic tests showed a 46,XX,r(15) karyotype in more than 70% of metaphases observed. Her parents were healthy and non-related. The pregnancy was complicated and was positive for intrauterine growth retardation. Her birth weight was 1950 g, her length was 43.5 cm, and she had a head circumference of 29.3. In addition to postnatal growth delay, she had scant frontal hair, small eyes, hypertelorism, low-set of ears, flattened nasal bridge, anteverted nostrils, down-turned mouth, three café au lait spots, and delayed dentition.Conclusions: Despite the frequency of some phenotypes expressed in the different clinical cases reviewed and the present case, a common phenotype for patients with ring 15 could not be determined and it is restricted to the region of the chromosome lost during the ring formation. [ABSTRACT FROM AUTHOR]

Different BCR-ABL transcript variants occur more or less frequently, according to the leukemia type. We report the frequencies of BCR-ABL transcript variants studied in chronic myeloid leukemia (CML) and acute lymphoblastic leukemia (ALL) patients in the Ecuadorian population. The frequencies found for CML patients in this study were 94.6% for the b2/a2 rearrangement and 5.4% for the b3/a2 rearrangement; whereas in ALL, all cases (100%) that presented the BCR-ABL rearrangement had the e1/a2 junction. Since our results differ from the frequencies previously reported, we suggest that this may be due to a different genetic background in the population involved in this study when compared to the populations analyzed in prior studies. Furthermore, we recommend a survey of the BCR-ABL transcript variants and their frequencies in different ethnic groups. [Copyright &y& Elsevier]

Aims: We described the presence of Helicobacter pylori (HP) and estimated the prevalence of primary and secondary resistance using molecular detection in gastric biopsies of Ecuadorian patients. Methods and Results: 66.7% (238/357) of the patients demonstrated the presence of HP using CerTest qPCR. Of these, 69.79% (104/149) were without previous HP eradication treatment and 64.42% (134/208) with prior HP eradication treatment. The mutation‐associated resistance rate for clarithromycin was 33.64% (primary resistance) and 32.82% (secondary resistance), whereas that in levofloxacin the primary and secondary resistance was 37.38% and 42%, respectively. For tetracycline and rifabutin, primary and secondary resistance was 0%. Primary and secondary resistance for metronidazole and amoxicillin could not be evaluated by genotypic methods (PCR and sequencing). Conclusions: The analysis of mutations in gyrA, 23S rRNA and 16S rRNA is useful to detect bacterial resistance as a guide for eradication therapy following failure of the first‐line regimen. Significance and Impact of the Study: This study carried out in an Ecuadorian population indicates that the resistance of HP to first‐line antibiotics is high, which may contribute to the high rates of treatment failure, and other treatment alternatives should be considered. [ABSTRACT FROM AUTHOR]

Background: Detection of chromosomal abnormalities is crucial in various medical areas; to diagnose birth defects, genetic disorders, and infertility, among other complex phenotypes, in individuals across a wide range of ages. Hence, the present study wants to contribute to the knowledge of type and frequency of chromosomal alterations and polymorphisms in Ecuador. Methods: Cytogenetic registers from different Ecuadorian provinces have been merged and analyzed to construct an open‐access national registry of chromosome alterations and polymorphisms. Results: Of 28,806 karyotypes analyzed, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%), a gonosome aneuploidy. A recurrent high percentage of Down syndrome mosaicism (7.45%) reported here, as well as by previous Ecuadorian preliminary registries, could be associated with geographic location and admixed ancestral composition. Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%). Complementary to conventional cytogenetics tests, molecular tools have allowed identification of submicroscopic alterations regions or candidate genes which can be possibly implicated in patients' symptoms and phenotypes. Conclusion: The Ecuadorian National Registry of Chromosome Alterations and Polymorphisms provides a baseline to better understand chromosomal abnormalities in Ecuador and therefore their clinical management and awareness. This data will guide public policy makers to promote and financially support cytogenetic and genetic testing. [ABSTRACT FROM AUTHOR]

Consensus strategy was proved to be highly efficient in the recognition of gene-disease association. Therefore, the main objective of this study was to apply theoretical approaches to explore genes and communities directly involved in breast cancer (BC) pathogenesis. We evaluated the consensus between 8 prioritization strategies for the early recognition of pathogenic genes. A communality analysis in the protein-protein interaction (PPi) network of previously selected genes was enriched with gene ontology, metabolic pathways, as well as oncogenomics validation with the OncoPPi and DRIVE projects. The consensus genes were rationally filtered to 1842 genes. The communality analysis showed an enrichment of 14 communities specially connected with ERBB, PI3K-AKT, mTOR, FOXO, p53, HIF-1, VEGF, MAPK and prolactin signaling pathways. Genes with highest ranking were TP53, ESR1, BRCA2, BRCA1 and ERBB2. Genes with highest connectivity degree were TP53, AKT1, SRC, CREBBP and EP300. The connectivity degree allowed to establish a significant correlation between the OncoPPi network and our BC integrated network conformed by 51 genes and 62 PPi. In addition, CCND1, RAD51, CDC42, YAP1 and RPA1 were functional genes with significant sensitivity score in BC cell lines. In conclusion, the consensus strategy identifies both well-known pathogenic genes and prioritized genes that need to be further explored. [ABSTRACT FROM AUTHOR]

Among the most frequent congenital defects are cleft lip and/or palate (CL/P), with a prevalence of 1:1,000 live births. 70% of CL/P are non-syndromic, which means that they are found as an isolated defect without additional anomalies. They have a complex etiology with both an environmental and genetic component. By the development of human genome sequencing technologies have been identified polymorphic variants that may be associated with the CL/P phenotype and therefore may contribute to the multifactorial etiology of these. This review describes the commonly associated variants and their role in the etiology of CL/P. The SNPs located in the genes IFR6, MSX1, VAX1, PAX9, CHD1, FGF1, GREM1 and WNT3 have been significantly related to the presence of CL/P, and the variants located in the genes APC, GSK3, DVL2, BMP4, ABCA4, BHMT, NTN1, TBX1, EPHA3, FAM49A, MGMT, MMP3, TIMP2 y NOG, although its association with the presence of orofacial fissures has been reported, its relationship with this phenotype is not yet clear. It is important to carry out studies to identify genetic variants that involve specific populations in order to understand the etiology of non-syndromic CL/P. [ABSTRACT FROM AUTHOR]

Objective: To assess the added value of chromosomal microarray analysis (CMA) over conventional karyotyping to assess the genetic causes in stillbirth.Methods: To identify relevant studies, published in English or Spanish and without publication time restrictions, we performed a systematic search of PubMed, SCOPUS and ISI Web of Science databases, The Cochrane Library and the PROSPERO register of systematic reviews, for case series of fetal loss ≥ 20 weeks of gestation, with normal or suspected normal karyotype, undergoing CMA and with at least five subjects analyzed. To investigate quality, two reviewers evaluated independently the risk of bias using the Quality Assessment of Diagnostic Accuracy Studies (QUADAS-2) tool. For the meta-analysis, the incremental yield of CMA over karyotyping was assessed by single-proportion analysis using a random-effects model (weighting by inverse variance). We assessed heterogeneity between studies and performed a sensitivity analysis and a subgroup analysis of structurally abnormal (malformed or growth-restricted) and normal fetuses.Results: Included in the meta-analysis were seven studies involving 903 stillborn fetuses which had normal karyotype. The test success rate achieved by conventional cytogenetic analysis was 75%, while that for CMA was 90%. The incremental yield of CMA over conventional karyotyping based on the random-effects model was 4% (95% CI, 3-5%) for pathogenic copy-number variants (pCNVs) and 8% (95% CI, 4-17%) for variants of unknown significance. Subgroup analysis showed a 6% (95% CI, 4-10%) incremental yield of CMA for pCNVs in structurally abnormal fetuses and 3% (95% CI, 1-5%) incremental yield for those in structurally normal fetuses. The pCNV found most commonly was del22q11.21.Conclusions: CMA, incorporated into the stillbirth work-up, improves both the test success rate and the detection of genetic anomalies compared with conventional karyotyping. To achieve a genetic diagnosis in stillbirth is particularly relevant for the purpose of counseling regarding future pregnancies. Copyright © 2018 ISUOG. Published by John Wiley & Sons Ltd. [ABSTRACT FROM AUTHOR]

Objectives: To evaluate the use of Exome Sequencing (ES) for the detection of genome-wide Copy Number Variants (CNVs) and the frequency of SNVs-InDels in selected genes related to developmental disorders in a cohort of consecutive pregnancies undergoing invasive diagnostic procedures for minor or simple ultrasound findings with no indication of ES. Methods: Women undergoing invasive diagnostic testing (chorionic villus sampling or amniocentesis) for QF-PCR and chromosomal microarray analysis (CMA) due to prenatal ultrasound findings without an indication for ES were selected over a five-month period (May–September 2021). ES was performed to compare the efficiency of genome-wide CNV detection against CMA analysis and to detect monogenic disorders. Virtual gene panels were selected to target genes related to ultrasound findings and bioinformatic analysis was performed, prioritizing variants based on the corresponding HPO terms. The broad Fetal Gene panel for developmental disorders developed by the PAGE group was also included in the analysis. Results: A total of 59 out of 61 women consented to participate in this study. There were 36 isolated major fetal anomalies, 11 aneuploidy markers, 6 minor fetal anomalies, 4 multiple anomalies, and 2 other ultrasound signs. Following QF-PCR analysis, two uncultured samples were excluded from this study, and six (10%) common chromosome aneuploidies were detected. In the remaining 51 cases, no pathogenic CNVs were detected at CMA, nor were any pathogenic variants observed in gene panels only targeting the ultrasound indications. Two (3.9%) monogenic diseases, apparently unrelated to the fetal phenotype, were detected: blepharo-cheilo-odontic syndrome (spina bifida) and Duchenne muscular dystrophy (pyelocaliceal dilation). Conclusions: In our series of pregnancies with ultrasound findings, common aneuploidies were the only chromosomal abnormalities present, which were detected in 10% of cases. ES CNV analysis was concordant with CMA results in all cases. No additional findings were provided by only targeting selected genes based on ultrasound findings. Broadening the analysis to a larger number of genes involved in fetal developmental disorders revealed monogenic diseases in 3.9% of cases, which, although apparently not directly related to the indications, were clinically relevant. [ABSTRACT FROM AUTHOR]

There is a dearth of data from Ecuador on the burden of life-threatening fungal disease entities; therefore, we estimated the burden of serious fungal infections in Ecuador based on the populations at risk and available epidemiological databases and publications. A full literature search was done to identify all epidemiology papers reporting fungal infection rates. WHO, ONU-AIDS, Index Mundi, Global Asthma Report, Globocan, and national data [Instituto Nacional de Estadística y Censos (INEC), Ministerio de Salud Pública (MSP), Sociedad de Lucha Contra el Cáncer (SOLCA), Instituto Nacional de Donación y Trasplante de Órganos, Tejidos y Células (INDOT)] were reviewed. When no data existed, risk populations were used to estimate frequencies of fungal infections, using previously described methodology by LIFE. Ecuador has a variety of climates from the cold of the Andes through temperate to humid hot weather at the coast and in the Amazon basin. Ecuador has a population of 15,223,680 people and an average life expectancy of 76 years. The median estimate of the human immunodeficiency virus (HIV)/acquired immune deficiency syndrome (AIDS) population at risk for fungal disease (<200 CD4 cell counts) is ∼10,000, with a rate of 11.1% (1100) of histoplasma, 7% (700) of cryptococcal meningitis, and 11% (1070) of Pneumocystis pneumonia. The burden of candidemia is 1037. Recurrent Candida vaginitis (≥4 episodes per year) affects 307,593 women aged 15-50 years. Chronic pulmonary aspergillosis probably affects ∼476 patients following tuberculosis (TB). Invasive aspergillosis is estimated to affect 748 patients (∼5.5/100,000). In addition, allergic bronchopulmonary aspergillosis (ABPA) in asthma and severe asthma with fungal sensitization (SAFS) were estimated to affect 26,642 and 45,013 people, respectively. Our estimates indicate that 433,856 (3%) of the population in Ecuador is affected by serious fungal infection. [ABSTRACT FROM AUTHOR]