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Many studies, comparing the health associated risks of electronic cigarettes with conventional cigarettes, focus mainly on the common chemical compounds found between them. We therefore reviewed chemical compounds found exclusively in electronic cigarettes and describe their genotoxic and carcinogenic effects. The eligibility criteria included articles related exclusively to conventional and electronic cigarettes chemical composition. Articles which reported to be financed from cigarettes industries were excluded. Chemical compounds reported in the selected studies from conventional and electronic cigarettes were tabulated using the Chemical Abstracts Service registry number for chemical substances information. A total of 57 chemical compounds were exclusively reported to be present in electronic cigarettes. To further analyze e-cigarette carcinogenic effects, a gene set, previously reported to be deregulated in the oral epithelium of e-cigarettes users, was genomically analyzed in 32 PanCancer Atlas Studies. The crucial health risks identified were: eye, skin and respiratory tract irritation, with almost 50% of incidence. The main cancer risks associated with e-cigarettes were: ovarian, uterine, bladder, lung, esophageal and stomach carcinomas and adenocarcinomas. Despite being considered as less harmful for human health, the use of these devices is not recommended for first time users and it is considered hazardous for dual users.

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.

Genetic variants of chemical neurotransmission have been associated with the development of schizophrenia. This is a syndromic mental disorder that affects the perception of reality and feelings of those affected. This disease is expressed in 1% of the world’s population; in all cases, antipsychotic drugs are used as treatment. Scientific evidence indicates that symptomatologic characteristics and therapeutic response has a genetic influence. The objective of the current work was to describe the presence or absence of allelic polymorphisms found on the dopamine gene and the therapeutic response of 11 Ecuadorian individuals treated with haloperidol (5mg.), for a period of 14 days. Single Nucleotide Polymorphisms (SNPs) in the DRD2, TH and DTNBP1 genes and evaluations recorded from the PANSS, BPRS and UKU scales were assessed. An association with a significance of P = 0.024 was found between the Taq1-B polymorphism on the DRD2 gene and the BPRS positive symptom scale; furthermore, an association with a significance of P = 0.045 was found with the PANSS negative symptoms scale. The absence of the Ser311Cys polymorphism on the DRD2 gene within the sample was also reported. In conclusion, it is noted that there is a statistically significant difference between the symptomatologic group, individuals with allele A / G SNP Taq1-B, and the group of individuals without the polymorphism. Even though the biological mechanisms behind this result are not understood, his study will serve as a basis for the development of future research related to this topic.

Telomere maintenance mechanisms (TMM) are used by cancer cells to avoid apoptosis, 85&ndash, 90% reactivate telomerase, while 10&ndash, 15% use the alternative lengthening of telomeres (ALT). Due to anti-telomerase-based treatments, some tumors switch from a telomerase-dependent mechanism to ALT, in fact, the co-existence between both mechanisms has been observed in some cancers. Although different elements in the ALT pathway are uncovered, some molecular mechanisms are still poorly understood. Therefore, with the aim to identify potential molecular markers for the study of ALT, we combined in silico approaches in a 411 telomere maintenance gene set. As a consequence, we conducted a genomic analysis of these genes in 31 Pan-Cancer Atlas studies from The Cancer Genome Atlas and found 325,936 genomic alterations, from which, we identified 20 genes highly mutated in the cancer studies. Finally, we made a protein-protein interaction network and enrichment analysis to observe the main pathways of these genes and discuss their role in ALT-related processes, like homologous recombination and homology directed repair. Overall, due to the lack of understanding of the molecular mechanisms of ALT cancers, we proposed a group of genes, which after ex vivo validations, could represent new potential therapeutic markers in the study of ALT.

Many primary-tumor subregions have low levels of molecular oxygen, termed hypoxia. Hypoxic tumors are at elevated risk for local failure and distant metastasis. Metastatic disease is the leading cause of cancer-related deaths and involves critical interactions between tumor cells and the microenvironment. Here we focused on elucidating the molecular hallmarks of tumor hypoxia that remains poorly defined. To fill this gap, we analyzed the genomic alterations and hypoxia score of 233 hypoxia-related genes of 6,343 individuals across 17 TCGA Pan-Cancer types. In addition, we analyzed a protein-protein interactome (PPi) network and the shortest paths from hypoxic proteins to metastasis. As results, mRNA high alteration was prevalent in all cancer types. Genomic alterations and hypoxia score presented a highest frequency in tumor stage 4 and positive metastasis status in all cancer types. The most significant signaling pathways were HIF-1, ErbB, PI3K-Akt, FoxO, mTOR, Ras and VEGF. The PPi network revealed a strong association among hypoxic proteins, cancer driver proteins and metastasis driver proteins. The analysis of shortest paths revealed 99 ways to spread metastasis signaling from hypoxic proteins. Additionally, we proposed 62 hypoxic genes strongly associated with metastasis and 27 of them with high amount of genomic alterations. Overall, tumor hypoxia may drive aggressive molecular features across cancer types. Hence, we identified potential biomarkers and therapeutic targets regulated by hypoxia that could be incorporated into strategies aimed at improving novel drug development and treating metastasis.

Background Turner syndrome is a genetic disorder that affects women. It is caused by an absent or incomplete X chromosome, which can be presented in mosaicism or not. There are 12 cases of Turner syndrome patients who present structural alterations in autosomal chromosomes. Case presentation The present case report describes a patient with a reciprocal, maternally inherited translocation between chromosomes 2 and 12 with a mosaicism of X monosomy 45,X,t(2;12)(p13;q24)[95]/46,XX,t(2;12)(p13;q24)[5]. Through genetic mapping arrays, altered genes in the patient were determined within the 23 chromosome pairs. These genes were associated with the patient’s clinical features using a bioinformatics tool. Conclusion To our knowledge, this is the first case in which a translocation (2;12) is reported in a patient with Turner syndrome and confirmed by conventional cytogenetics, FISH and molecular genetics. Clinical features of our patient are closely related with the loss of one X chromosome, however mild intellectual disability can be likely explained by autosomal genes. The presence of familial translocations was a common finding, thus emphasizing the need for familiar testing for further genetic counselling.

A small but growing body of research has investigated the experience of gay male athletes “coming out” in sport, a historically homophobic environment. In this exploratory case study, the experiences of “Mark,” a male volleyball player who came out prior to a championship season, were examined using social identity perspective and athletic identity theory as the frameworks for analysis. Data sources included interviews with Mark, interviews with informants, and Mark’s social-media posts. A narrative of Mark’s coming-out experience was developed and explored in light of the theoretical frameworks, and 2 themes emerged from the data: gay athlete as a (dis)qualifier and “It’s not about the skills, it’s about the attitude,” which explores Mark’s psychological development and its relationship with athletic performance. Implications and strategies for sport psychology consultants working with gay male athletes are discussed.

Resumen Dentro de los defectos congénitos más frecuentes se encuentran las fisuras labio y/o palatinas (FL/P), presentando una prevalencia de alrededor de 1:1.000 nacimientos vivos. El 70% de FL/P son de tipo no sindrómico, lo cual hace referencia a que se encuentran como un defecto aislado sin anomalías adicionales. Poseen una etiología compleja con un componente tanto ambiental como genético. Con el desarrollo de tecnologías de secuenciación del genoma humano se han identificado variantes polimórficas que pueden estar asociadas al fenotipo de FL/P y por tal motivo pueden contribuir a la etiología multifactorial de éstas. En esta revisión se describen las variantes comúnmente asociadas y su papel en la etiología de las FL/P. Los SNPs localizados en los genes IFR6, MSX1, VAX1, PAX9, CHD1, FGF1, GREM1 y WNT3 se han relacionado significativamente con la presencia de FL/P, y las variantes ubicadas en los genes APC, GSK3, DVL2, BMP4, ABCA4, BHMT, NTN1, TBX1, EPHA3, FAM49A, MGMT, MMP3, TIMP2 y NOG aunque se ha reportado su asociación con la presencia de las fisuras orofaciales aún no es clara su relación con dicho fenotipo. Es importante realizar estudios de identificación de variantes genéticas que involucren poblaciones específicas con el fin de poder comprender la etiología de las FL/P no sindrómicas. Abstract 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.

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.”

Este estudio analiza las consecuencias de las asperciones aéreas con glifosato y surfactantes en la parte norte del Ecuador. Los tests de aberraciones cromosómicas y el ensayo cometa fueron utilizados para el biomonitoreo humano. Un total de 24 individuos expuestos y 21 individuos controles fueron incluidos en el estudio. Los resultados muestran niveles significativamente altos de aberraciones cromosómicas en las muestras de los individuos expuestos (22.42%) comparados con los controles (1.38%). De igual manera, el ensayo cometa mostró un alto grado de daño al ADN en el grupo expuesto (35.5Ilm) comparado con el grupo control (25.94Ilm). Estos resultados sugieren que el glifosato, en la formulación utilizada durante las asperciones aéreas, podría tener un efecto genotóxico sobre los individuos expuestos.

Se considera como principal marcador de la Leucemia Mieloide Crónica (LMC) la translocación t(9;22) o cromosoma Ph que ocurre en un 90 -95% de pacientes con LMC. Uno de los tratamientos más efectivos es el Gleevec cuyo blanco son las células Ph positivo. Una ventaja de esta nueva droga es la discriminación entre células normales y anormales, y la inducción de apoptosis. Se estudiaron 31 pacientes: 13 en fase crónica, 12 en fase acelerada y 6 en crisis blástica a lo largo de 1 año. Se obtuvo remisión hematológica en todos los casos de fase crónica, pero en los pacientes en fase acelerada y crisis blástica respondieron aproximadamente el 50%. La remisión cito genética ocurrió en un 79% de fase crónica y varía de un 17 a 32 % en fase acelerada y crisis blástica. No existió remisión molecular en ningún paciente. El análisis genético es una buena herramienta para determinar la efectividad del tratamiento y seguimiento de los casos de leucemia.

This study presents mitochondrial data from 55 unrelated individuals from two Ecuadorian Shuar communities: Kumbatza and Yukateis. Maternal linage was determined by analyzing the two mtDNA hypervariable regions: HRVI and HRVII. It was shown that the Shuar population exhibited the haplogroup B. This demonstrates that Shuar group is a conserved population with no mixing with the European and African diaspora populations.

Ecuador has various regions at different altitudes. It is known that at high altitudes, organisms experience multiple stressors, including exposure to ultraviolet (UV) radiation. The UV radiation exposure increases when getting closer to the Equator line. Consequently, cities in the Ecuadorian inter-Andean region and located at 2,800-3,000 m above sea level (masl) are exposed to UV levels approximately 40% higher than those of the lowlands. UV light is a carcinogen that causes mutations, DNA damage and cellular apoptosis. However, the XPC, XPD and XPG genes encode proteins that repair DNA caused by UV radiation. The aim of this study was to evaluate the distribution of three polymorphisms (rs2228001, rs13181 and rs17655) involved in the response to the damage caused by UV radiation in the Ecuadorian populations of high and low altitudes, and thus, correlate the ancestral proportions of these populations. Results showed that the behavior of both groups located at different altitudes is similar. The ancestry of these groups exhibited that the Native American component prevails, and the European and African component varies.

Trisomy 9p syndrome is the fourth most frequent chromosome aberration seen in infants. Duplication of the critical region 9p22p24 leads to mental retardation, psychomotor delay, and craniofacial and digital anomalies. We report a 2-year-old Ecuadorian girl with Trisomy 9p syndrome. Although her phenotype shares characteristics of Noonan syndrome, Giemsa trypsin banding technique shows there is an extra chromosomal segment on chromosome 14, and array analysis shows that it belongs to a duplication of 38 Mb of 9p13.1p24.3. Fluorescence in situ hybridization analysis detected three signals from 9p chromosome. The duplication is de novo, being another unique case of the few reported in the literature.

This chapter discusses policies related to education for youth with emotional or behavioral disorders, and describes a policy framework for developing placement options for children with emotional or behavioral disorders. It presents a schema or framework for placement policies that was derived from an investigation of the Center for the Study for Policy Options in Special Education, and discusses policies and practices associated with providing effective services to youth with emotional or behavioral disorders. Since the mid-1980s, mental health professionals, educators, and advocates have struggled with the failure of communities and agencies to meet the needs of children and youth with emotional or behavioral disorders. Policies concerning children with emotional or behavioral disorders devote minimal attention to the contexts of deviant behavior and the culture of the schools. The more formal policies have been pieced together over time in response to specific societal problems and with differing objectives.

Colorectal cancer (CRC) is a major health problem with an estimated 1. 8 million new cases worldwide. To date, most CRC studies have focused on DNA-related aberrations, leaving post-transcriptional processes under-studied. However, post-transcriptional alterations have been shown to play a significant part in the maintenance of cancer features. RNA binding proteins (RBPs) are uprising as critical regulators of every cancer hallmark, yet little is known regarding the underlying mechanisms and key downstream oncogenic targets. Currently, more than a thousand RBPs have been discovered in humans and only a few have been implicated in the carcinogenic process and even much less in CRC. Identification of cancer-related RBPs is of great interest to better understand CRC biology and potentially unveil new targets for cancer therapy and prognostic biomarkers. In this work, we reviewed all RBPs which have a role in CRC, including their control by microRNAs, xenograft studies and their clinical implications.

Background Retinoblastoma is a neoplasia that starts in the retina and may have inheritable or sporadic genetic predisposition. This affects children, mainly those who are under 5 years old. Approximately 9,000 new cases are diagnosed per year worldwide. In Ecuador this disease has an incidence of 1 per each 20,000 live births. The genetic predisposition to develop retinoblastoma is strongly influenced by RB1 gene, and may be influenced by the presence of genetic polymorphisms which intervene in the DNA repair system. Methods This study has analyzed the genotype frequency of ERCC2 (Lys751Gln), MSH2 (gIVS12-6TC), RAD54 (Ala730Ala), XPC (Lys939Gln), XPG (Asp1104Hist), XRCC1 (Arg399Gln), and XRCC3 (Thr241Met) polymorphisms of different repair genes, genotyping 90 individuals affected with retinoblastoma and 80 healthy individuals through polymerase chain reaction / restriction fragments length polymorphism and sequencing analysis. Results The presence of the (C/C) mutant homozygous genotype of XPC (Lys939Gln) polymorphism triggers a significant risk of developing retinoblastoma with an odds ratio (OR) of 3 (CI: 1.22-9.84; p < 0.05). Likewise, the A/G heterozygous genotype and the combination A/G+G/G of XRCC1 (Arg399Gln) polymorphism presented ORs of 9.7 (CI: 4.45-21.08; p < 0.001) and 7.55 (IC: 3.57-16; p < 0.001), respectively. Conclusions The genetic variants XPC (Lys939Gln) and XRCC1 (Arg399Gln) may be associated with the risk of developing retinoblastoma in the Ecuadorian population.

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., Of 28,806 karyotypes analyzed in Ecuador, 6,008 (20.9%) exhibited alterations. Down syndrome was the most frequent autosome alteration (88.28%), followed by Turner syndrome (60.50%). Translocations (2.46%) and polymorphisms (7.84%) were not as numerous as autosomopathies (64.33%) and gonosomopathies (25.37%).

The history of Ecuador was marked by the arrival of Europeans with Africans, resulting in the mixture of Native Americans with Africans and Europeans. The present study contributes to the knowledge of the Ecuadorian mestizo population by offering information about ancestry and ethnic heterogeneity. Forty-six AIM-InDels (Ancestry Informative Insertion/Deletion Markers) were used to obtain information on 240 Ecuadorian individuals from three regions (Amazonia, the Highlands, and the Coast). As a result, the population involved a significant contribution from Native Americans (values up to 51%), followed by Europeans (values up to 33%) and Africans (values up to 13%). Furthermore, we compared the data obtained with nine previously reported scientific articles on autosomal, mitochondrial DNA and Y chromosomes. The admixture results correspond to Ecuador’s historical background and vary slightly between regions.

Colorectal cancer (CRC) is one of the leading causes of cancer death worldwide. Over the last decades, several studies have shown that tumor-related genomic alterations predict tumor prognosis, drug response and toxicity. These observations have led to the development of a number of precision therapies based on individual genomic profiles. As part of these approaches, pharmacogenomics analyses genomic alterations that may predict an efficient therapeutic response. Studying these mutations as biomarkers for predicting drug response is of a great interest to improve precision medicine. Here we conduct a comprehensive review of the main pharmacogenomics biomarkers and genomic alterations affecting enzyme activity, transporter capacity, channels and receptors, and therefore the new advances in CRC precision medicine to select the best therapeutic strategy in populations worldwide, with a focus on Latin America.

Congenital insensitivity to pain with anhidrosis (CIPA) is an extremely rare autosomal recessive disorder characterized by insensitivity to pain, inability to sweat and intellectual disability. CIPA is caused by mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) that encodes the high-affinity receptor of nerve growth factor (NGF). Patients with CIPA lack the primary afferents and sympathetic postganglionic neurons leading to lack of pain sensation and the presence of anhidrosis, respectively. Herein, we conducted a genomic analysis of 4,811 genes and 18,933 variants, including 54 mutations of NTRK1 in a high-altitude indigenous Ecuadorian patient with CIPA. As results, the patient presented 87.8% of Native American ancestry, 6.6% of African ancestry and 5.6% of European ancestry. The mutational analysis of the kinase domain of NTRK1 showed two pathogenic mutations, rs80356677 (Asp674Tyr) and rs763758904 (Arg602*). The genomic analysis showed 68 pathogenic and/or likely pathogenic variants in 45 genes, and two variants of uncertain significance in CACNA2D1 (rs370103843) and TRPC4 (rs80164537) genes involved in the pain matrix. The GO enrichment analysis showed 28 genes with relevant mutations involved in several biological processes, cellular components and molecular functions. In addition, the protein-protein interaction (PPi) networking analysis showed that NTRK1, SPTBN2 and GRM6 interact with several proteins of the pain matrix. In conclusion, this is the first time that a study associates genomic, ancestral and networking data in a high-altitude Native American Ecuadorian patient with consanguinity background in order to better understand CIPA pathogenesis.

Background. Many studies, comparing the health associated risks of electronic cigarettes with conventional cigarettes focus mainly on the common chemical compounds found between them. Aim. Review chemical compounds found exclusively in electronic cigarettes and describe their toxic effects, focusing on electronic-cigarette-only and dual electronic-cigarette and conventional cigarette users. Data Sources. Literature search was carried out using PubMed. Study Eligibility Criteria. Articles related exclusively to conventional and electronic cigarettes’ chemical composition. Articles which reported to be financed from tobacco or electronic cigarettes industries, not reporting source of funding, not related to the chemical composition of electronic and conventional cigarettes and not relevant to tobacco research were excluded. Methods and Results. Chemical compounds reported in the selected studies were tabulated using the Chemical Abstracts Service registry number for chemical substances information. A total of 50 chemical compounds were exclusively reported to be present in electronic cigarettes. Crucial health risks identified were: eye, skin, and respiratory tract irritation, with almost 50% of incidence, an increment of 10% in cytotoxic effects, when compared to compounds in common with conventional cigarettes and around 11% of compounds with unknown effects to human health. Limitations. Articles reporting conflicts of interest. Conclusions and Implications of Key Findings. Despite being considered as less harmful for human health, compounds found in electronic cigarettes are still a matter of research and their effects on health are yet unknown. The use of these devices is not recommended for first time users and it is considered hazardous for dual users.

Patients with Benign prostatic hyperplasia, low urinary tract symptoms, and erectile dysfunction (BPH/LUTS-ED) present chronic inflammation. We studied in patients with BPH/LUTS-ED the effect of tadalafil treatment (5 mg/day) on changes in peripheral inflammation, cognitive function, and the auditory evoked potential, “mismatch negativity” (MMN). Nine patients with BPH/LUTS-ED and 12 controls performed psychometric tests, MMN. IL-6, IL-17, IL-18, cGMP and CD4+CD28− autoreactive T-cells were measured in blood. Patients with BPH/LUTS-ED performed psychometric tests, MMN, and blood extraction at baseline and after tadalafil treatment. Patients with BPH/LUTS-ED showed increased CD4+CD28− autoreactive T-cells (p

La genética convencional y la molecular han acumulado suficientes datos sobre las poblaciones humanas mundiales; por ello, en la actualidad se puede desentrañar el origen fidedigno de cada grupo humano. Una serie de marcadores genéticos han permitido rastrear el origen y la migración humana. STRs, Indels, Mitocondrias, Cromosoma Y, entre los más usados, dan cuenta de la trayectoria de la humanidad y el poblamiento del planeta. La genética moderna nos muestra la composición poblacional de diversas variantes de genes y secuencias no informativas; asàpermiten hoy entender mejor y hasta clasificar grupos poblacionales como etnias. Aunque, el ADN es el mismo para todos los humanos, secuencias no esenciales muestran diferentes frecuencias de presentación según el grupo étnico. Adicionalmente, a través del estudio de los marcadores genéticos, podemos calcular los tiempos migratorios y el momento del origen y expansión de los humanos; lo que se llama el reloj molecular. Este artículo aborda algunos de los conocimientos actuales en genética poblacional, etnicidad y tiempos genéticos, incluso, presenta datos reales de análisis del ADN.

In 2004, the United States Preventive Services Task Force (USPSTF) gave testicular cancer (TCa) screening a ‘D’ recommendation, discouraging the use of this preventive service. The USPSTF suggested that screening, inclusive of testicular self-examination (TSE) and clinician examination, does not reduce TCa mortality rates and that the high risk of false positives could serve as a detriment to patient quality of life. Others suggests that TCa screening is ineffective at detecting early-stage cases of TCa and readily highlights a lack of empirical evidence demonstrating said efficacy. These assertions, however, stand in stark contrast to the widely held support of TCa screening among practicing public health professionals, advocacy groups, and clinicians. In this present study, a review was conducted of the methods and processes used by the USPSTF in their 2011 reaffirmation of the ‘D’ grade recommendation. The evidence base and commentary offered as to why TSE, as part of the overall recommendation for TCa screening, was given a ‘D’ grade were analyzed for logical reasoning and methodological rigor. Considering the methodological flaws and the veritable lack of evidence needed to grant a conclusive recommendation, the question is raised if the current ‘D’ grade for TCa screening (i.e. discourage the use of said service) should be changed to an ‘I’ statement (i.e. the balance of benefits and harms is indeterminate). Therefore the purpose of this paper is to present the evidence of TCa screening in the context of efficacy and prevention in order for the field to reassess its relative value., Highlights • The USPSTF gave testicular cancer screening a ‘D’ rating, discouraging its practice. • We discover methodological flaws and a lack of evidence needed to grant a D rating. • The D rating contrasts with the widely held support of TCa screening among practitioners. • The question is raised if the ‘D’ rating for TCa screening should be changed to an ‘I′ statement.

The phrase “standard of care” is primarily a legal term representing what procedure a reasonable person (i.e., health practitioner) would administer to patients across similar circumstances. One major concern for health practitioners is delivering and advocating for treatments not defined as a standard of care. While providing such treatments may meet certain ethical imperatives, doing so may unwittingly trigger medical malpractice litigation fears from practitioners. Apprehension to deviate, even slightly, from the standard of care may (seem to) put the practitioner at significant risk for litigation, which, in turn, may limit options for treatment and preventive measures recommended by the practitioner. Specific to testicular treatment, certain guidelines exist for cancer, torsion, vasectomy, and scrotal masses, among others. As it relates to screening, practitioner examination is expected for patients presenting with testicular abnormalities. Testicular self-examination (TSE) advocacy, however, is discouraged by the U.S. Preventive Services Task Force, which may prompt a general unwillingness among health practitioners to promote the behavior. Considering the benefits TSE has beyond cancer detection, and the historical support it has received among health practitioners, it is paramount to consider the ethical implications of its official “exclusion” from preventive health and clinical care recommendations (i.e., standard of care). Since good ethics should lead practitioner patient care guidelines, not fear of increased malpractice risks, we recommend the development of a standard of care for counseling males to perform TSE.

Ecuador is located between latitudes 2°N and 5°S and limits the Pacific Ocean on the west, Colombia on the north, and Peru on the south and east (Fig. 1). Its capital, Quito, stands at 2850 m (9350 ft.) above sea level. The country has four different geographic regions, the Coast (west of the Andes), the Sierra (Interandean highlands), the Amazon (east of the Andes), and the Insular region (Galapagos Islands). It is also divided into 24 provinces; six in the Coast, 11 in the Sierra, six in the Amazon, and one in the Insular region. Figure 1 Political map of Ecuador. Ecuador's surface area is 256,369 km2 (98,985 sq miles). The population in the last National Census in 2010 was 14,483,499 and it is estimated to be above 15 million as of 2015 (National Institute of Census and Statistics, INEC, www.inec.gob.ec). Life expectancy in Ecuador is 75.6 years (CIA, World Fact Book). Its gross domestic product (GDP) per capita was $5932 with a GDP growth rate of 4.05% in 2013 (Ecuadorian Ministry of Finances).

Background : Colorectal cancer (CRC) is the fourth most common cause of cancer death worldwide and has an annual incidence of 917,000 cases. In Ecuador the CRC is the fifteenth most common form of cancer and the fourth leading cause of cancer deaths. Aim : Our goal was to establish frequencies related to the polymorphic variants: (CA)n in the EGFR gene and A870G in the CCND1 gene and their influence on the development of CRC in the Ecuadorian population. Methods : This is a retrospective case-control study consisting of colorectal cancer patients (n = 96 cancer tissues) compared to a control group (n = 62 adjacent healthy tissues). For the sequencing of the fragments, PCR and Sanger method was used. Results : The polymorphic variant A870G in CCND1 has a genotype frequency for the common homozygous G/G = 0.69, for the heterozygous A/G = 0.25 and for the less frequent homozygous A/A = 0.06 in the control group. We studied 7 alleles, repeats 14-19 have been reported in other studies, but the 13 repeats allele was first described here. The most common number of repetitions was 18 with a frequency of 0.326 in patients and 0.25 in controls ( 2 = 22.58, p

Background & Aims Chronic hyperammonemia induces neuroinflammation which mediates cognitive impairment. How hyperammonemia induces neuroinflammation remains unclear. We aimed to assess whether: chronic hyperammonemia induces peripheral inflammation, and whether this then contributes to neuroinflammation, altered neurotransmission and impaired spatial learning — before assessing whether this neuroinflammation and impairment is reversible following hyperammonemia elimination or treatment of peripheral inflammation with anti-TNF-α. Methods Chronic hyperammonemia was induced by feeding rats an ammonia-containing diet. Peripheral inflammation was analyzed by measuring PGE2, TNF-α, IL-6 and IL-10. We tested whether chronic anti-TNF-α treatment improves peripheral inflammation, neuroinflammation, membrane expression of glutamate receptors in the hippocampus and spatial learning. Results Hyperammonemic rats show a rapid and reversible induction of peripheral inflammation, with increased pro-inflammatory PGE2, TNF-α and IL-6, followed at around 10 days by reduced anti-inflammatory IL-10. Peripheral anti-TNF-α treatment prevents peripheral inflammation induction and the increase in IL-1b and TNF-α and microglia activation in hippocampus of the rats, which remain hyperammonemic. This is associated with prevention of the altered membrane expression of glutamate receptors and of the impairment of spatial memory assessed in the radial and Morris water mazes. Conclusions This report unveils a new mechanism by which chronic hyperammonemia induces neurological alterations: induction of peripheral inflammation. This suggests that reducing peripheral inflammation by safe procedures would improve cognitive function in patients with minimal hepatic encephalopathy. Lay summary This article unveils a new mechanism by which chronic hyperammonemia induces cognitive impairment in rats: chronic hyperammonemia per se induces peripheral inflammation, which mediates many of its effects on the brain, including induction of neuroinflammation, which alters neurotransmission, leading to cognitive impairment. It is also shown that reducing peripheral inflammation by treating rats with anti-TNF-α, which does not cross the blood-brain barrier, prevents hyperammonemia-induced neuroinflammation, alterations in neurotransmission and cognitive impairment.

Over the past decades, consistent studies have shown that race/ethnicity have a great impact on cancer incidence, survival, drug response, molecular pathways and epigenetics. Despite the influence of race/ethnicity in cancer outcomes and its impact in health care quality, a comprehensive understanding of racial/ethnic inclusion in oncological research has never been addressed. We therefore explored the racial/ethnic composition of samples/individuals included in fundamental (patient-derived oncological models, biobanks and genomics) and applied cancer research studies (clinical trials). Regarding patient-derived oncological models (n = 794), 48.3% have no records on their donor’s race/ethnicity, the rest were isolated from White (37.5%), Asian (10%), African American (3.8%) and Hispanic (0.4%) donors. Biobanks (n = 8,293) hold specimens from unknown (24.56%), White (59.03%), African American (11.05%), Asian (4.12%) and other individuals (1.24%). Genomic projects (n = 6,765,447) include samples from unknown (0.6%), White (91.1%), Asian (5.6%), African American (1.7%), Hispanic (0.5%) and other populations (0.5%). Concerning clinical trials (n = 89,212), no racial/ethnic registries were found in 66.95% of participants, and records were mainly obtained from Whites (25.94%), Asians (4.97%), African Americans (1.08%), Hispanics (0.16%) and other minorities (0.9%). Thus, two tendencies were observed across oncological studies: lack of racial/ethnic information and overrepresentation of Caucasian/White samples/individuals. These results clearly indicate a need to diversify oncological studies to other populations along with novel strategies to enhanced race/ethnicity data recording and reporting.

© The Author(s)., [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., Funding for this research was completely managed by the institutions affiliated. Centro de Investigación Genética y Genómica, Facultad de Ciencias de la Salud Eugenio Espejo, Universidad UTE, Quito, Ecuador. Facultad de Ciencias de la Salud, Universidad San Francisco de Quito, Quito, Ecuador. Unidad de Investigación en Biomedicina, Zurita & Zurita Laboratorios, Quito, Ecuador. Servicio de Hematología, Hospital Universitario de Salamanca, Universidad de Salamanca, Salamanca, Spain. Molecular Medicine Unit, Department of Medicine, Biomedical Research Institute of Salamanca (IBSAL), Salamanca, Spain. Institute of Molecular and Cellular Biology of Cancer (IBMCC), University of Salamanca-SACYL-CSIC, Salamanca, Spain.

Head and neck squamous cell carcinoma (HNSCC) is the sixth most common cancer with the highest incidence worldwide. HNSCC is often diagnosed at advanced stages, incurring significant high mortality and morbidity. The use of saliva, as a noninvasive tool for the diagnosis of cancer, has recently increased. Salivary microRNAs (miRNAs) have emerged as a promising molecular tool for early diagnosis of HNSCC. The aim was to identify the differential expression of salivary miRNAs associated with HNSCC in the high altitude mestizo Ecuadorian population. Using PCR Arrays, miR-122-5p, miR-92a-3p, miR-124-3p, miR-205-5p, and miR-146a-5p were found as the most representative ones. Subsequently, miRNAs expression was confirmed in saliva samples from 108 cases and 108 controls. miR-122-5p, miR-92a-3p, miR-124-3p, and miR-146a-5p showed significant statistical difference between cases and controls with areas under the curve (AUC) of 0.73 (p < 0.001), 0.70 (p < 0.001), 0.71 (p = 0.002), and 0.66 (p = 0.008), respectively. miRNAs were also deregulated in between HNSCC localizations. A differentiated expression of miR-122-5p between oral cancer and oropharynx cancer (AUC of 0.96 p = 0.01) was found: miR-124-3p between larynx and pharynx (AUC = 0.97, p < 0.01) and miR-146a-5p between larynx, oropharynx, and oral cavity (AUC = 0.96, p = 0.01). Moreover, miR-122-5p, miR-124-3p, miR-205-5p, and miR-146a-5p could differentiate between HPV+ and HPV- (p=0.004). Finally, the expression profiles of the five miRNAs were evaluated to discriminate HNSCC patient’s tumor stages (TNM 2-4). miR-122-5p differentiates TNM 2 and 3 (p = 0.002, AUC = 0.92), miR-124-3p TNM 2, 3, and 4 (p < 0.001, AUC = 98), miR-146a-5p TNM 2 and 3 (p < 0.001, AUC = 0.97), and miR-92a-3p TNM 3 (p < 0.001, AUC = 0.99). Taken together, these findings show that altered expression of miRNAs could be used as biomarkers for HNSCC diagnosis in the high altitude mestizo Ecuadorian population.

Breast cancer is the leading cause of cancer-related death among women worldwide. AKT1 encodes the kinase B alpha protein. The rs121434592, rs12881616, rs11555432, rs11555431, rs2494732, and rs3803304 single nucleotide polymorphisms have been identified in the AKT1 kinase gene. Activated AKT1 phosphorylates downstream substrates regulating cell growth, metabolism, apoptosis, angiogenesis, and drug responses. It is essential to know how breast cancer risk is associated with histopathological and immunohistochemical characteristics and genotype polymorphisms in a high altitude Ecuadorian mestizo population. This is a retrospective case-control study. DNA was extracted from 185 healthy and 91 affected women who live 2,800 meters above sea level. Genotypes were determined by genomic sequencing. We found a possible association between the noncoding intronic variant rs3803304 and breast cancer risk development: GG (odds ratio [OR] = 5.2; 95% confidence interval [CI] = 1.3-20.9; P ≤ 0.05; Q > 0.05). Regarding pathologic characteristics, we found significant risk between estrogen receptor, progesterone receptor, and HER2 status and molecular subtypes (P ≤ 0.001; Q ≤ 0.05). On the other hand, we did not find risk between variants and histopathological characteristics. Despite the small sample size, we found that the intronic variant, AKT1 rs3803304, may act as a predictive biomarker in the risk of developing breast cancer in the high altitude Ecuadorian mestizo population.

The WHO’s “Global Strategy for Women’s, Children’s, and Adolescents’ Health 2016-2030” (GS-WCAH 2016-2030) is a comprehensive plan developed to improve the lives of women, children, and adolescents. Due to the success in the creation, ratification, and advocacy of the GS-WCAH 2016-2030, the clear health outcome disparities between males and females, and the general absence of male health from existing policies and sponsored programs, it is time now to develop a global strategy specifically drafted to improve the lives of men and boys. The following commentary provides three points for why a male-oriented program, like the GS-WCAH 2016-2030, should be created: (a) health outcomes disparities, (b) economic impact of poor male health, and (c) fathers’ role in promoting the health of women, children, and adolescents. Implications for how male health can be incorporated into future projects and priorities are provided, as well as advocacy for overall gender-inclusivity in regard to global public health efforts.

Alzheimer's disease (AD) is the most common cause of senile dementia. In Ecuador, the number of deaths caused by AD increases each year. Epidemiologically, the Ecuadorian population is composed of a mixture of several genetic backgrounds along with environmental factors, that make it unique and ideal for population studies. The main objective of this study was to determine the prevalence of Cystatin C (CST3), Cathepsin D (CTSD) and Manganese superoxide dismutase (MnSOD) amino acid-altering polymorphisms and their influence on the development of AD in the Ecuadorian population.This is a case-control study consisting of 56 patients with AD, from the Department of Neurology at Carlos Andrade Marín Hospital. The control group (n = 55) comprised healthy elderly adults. The inclusion period was from January to August of 2012. Peripheral blood was collected from both groups for DNA extraction, polymerase chain reaction and capillary sequencing.There was a positive association between a CTSD polymorphism (Ala224Val) and the development of AD (odds ratio = 8.1, 95% confidence interval: 0.9-85.7; P0.025). However, the 3 other polymorphisms investigated did not show significant associations with AD.Variations in CTSD and MnSOD showed no association with the development of AD, whereas the presence of the Ala224Val polymorphism in CTSD had a positive association with the development of AD.

Children and youth in juvenile corrections have statutory rights to education services of comparable quality to those found in the public schools. However, during the past 40 years in many states, access to education services that meet state and federal requirements under IDEA and state regulations has been in- consistent and inadequate for youth in correctional institutions. In response, parents and advocates have sued state and local jurisdictions to ensure that children receive access to services. After reviewing the status of education in juvenile corrections and several cases challenging inadequate education services, this paper identifies promising developments and next steps in se - curing adequate education services for all incarcerated youth.

Andean condor (Catharthidae) is considered a patriotic symbol in five Latin-American countries; despite this, it is endangered throughout entire region. Less than fifty Andean condors does exists in Ecuador, therefore activities that tend to estimate the genetic variability are considered extremely urgent. This work reports the first STR genetic identification system for this species, based in primer microsatellite sequences originally designed for the Californian Condor ( Gymnogyps californianus ).

Prostate cancer (PC) is the second most commonly diagnosed type of cancer in males with 1,114,072 new cases in 2015. The MTHFR enzyme acts in the folate metabolism, which is essential in methylation and synthesis of nucleic acids. MTHFR C677T alters homocysteine levels and folate assimilation associated with DNA damage. Androgens play essential roles in prostate growth. The SRD5A2 enzyme metabolizes testosterone and the V89L polymorphism reduces in vivo SRD5A2 activity. The androgen receptor gene codes for a three-domain protein that contains two polymorphic trinucleotide repeats (CAG, GGC). Therefore, it is essential to know how PC risk is associated with clinical features and polymorphisms in high altitude Ecuadorian mestizo populations. We analyzed 480 healthy and 326 affected men from our three retrospective case-control studies. We found significant association between MTHFR C/T (odds ratio [OR] = 2.2;P=0.009), MTHFR C/T+T/T (OR = 2.22;P=0.009), and PC. The SRD5A2 A49T substitution was associated with higher pTNM stage (OR = 2.88;P=0.039) and elevated Gleason grade (OR = 3.15;P=0.004). Additionally, patients with ≤21 CAG repeats have an increased risk of developing PC (OR = 2.99;P<0.001). In conclusion, genotype polymorphism studies are important to characterize genetic variations in high altitude mestizo populations.

The purpose of this study was to determine whether there is evidence of reliability and validity for the Adolescent Body Image Satisfaction Scale (ABISS), an instrument previously developed to measure adolescent body image. A sample (N = 330) of adolescent males, aged 14-19 years, completed the ABISS to determine current body image satisfaction. Data were analyzed for measures of instrument composite reliability and initial content and construct validity. Exploratory factor analysis supported a 3-factor solution (16 total items), which explained 42.7% of variance in the model. Composite reliability for the subscales, body competence, body inadequacy, and internal conflict ranged from 0.64 to 0.82. Exploratory factor analysis of the ABISS provides initial psychometric support for a valid and reliable measure for assessing adolescent male body image, which also can be used as a needs assessment tool. Strength and conditioning professionals should be aware of their athlete and client psychological attributes, many of whom are adolescents. Understanding how adolescents view their bodies and their body image will assist professionals in designing appropriate, health-promotive strength programs, while at the same time monitoring for signs of body image dissatisfaction. Assessing body image can help heighten awareness and possibly encourage preventative programming to help avert negative health practices (e.g., performance-enhancing drug use, exercise addictions, disordered eating). The ABISS seems to have preliminary psychometric support to be a valid and reliable instrument that helps gauge at-risk populations.

Helicobacter pylori (Hp) has a worldwide distribution showing its higher prevalence of infection in developing countries. Toll-like receptors (TLRs) and C-type lectin receptors (CLRs) are proteins that recognize pathogen-associated molecular patterns (PAMPs) and initiate an innate immune response by promoting growth and differentiation of specialized hematopoietic cells for host defense. Gastric infections led by Hp induce a Th-1 cellular immune response, regulated mainly by the expression of IFN-γ. In this retrospective case-control study, we evaluated the TLR1 1805T/G, TLR2 2029C/T, TLR4 896A/G, CD209 -336A/G and IFNGR1 -56C/T polymorphisms and their relationship with susceptibility to Hp infection. TLR1 1805T/G showed statistical differences when the control (Hp-) and infected (Hp+) groups (P = 0.041*) were compared; the TLR1 1805G allele had a protective effect towards infection (OR = 0.1; 95% CI = 0.01-0.88, P = 0.033*). Similarly, the IFNGR1 -56C/T polymorphism showed statistical differences between Hp+ and Hp- (P = 0.018*), and the IFNGR1 -56TT genotype exhibited significant risk to Hp infection (OR = 2.9, 95% CI = 1.27-6.54, P = 0.018*). In conclusion, the pro-inflammatory TLR1 1805T and IFNGR1 -56T alleles are related with susceptibility to Hp infection in Ecuadorian individuals. The presence of these polymorphisms in individuals with chronic infection increases the risk of cellular damage and diminishes the cellular immune response efficiency towards colonizing agents.

Objective: To discuss the case of a 49-year-old man who presented to the sports medicine staff with pelvic pain of 10 years' duration consistent with pudendal neuralgia. Background: Testicular pain in men is often provoked by direct trauma or may indicate an oncologic process. Differential Diagnosis: Epididymitis, athletic pubalgia, testicular tumor, sacroiliac joint dysfunction, lumbar radiculopathy. Treatment: The patient responded positively to treatment and rehabilitation to restore normal mechanics to the lumbo-pelvic-hip complex. Several flare-ups since the initial treatment have been of short duration ( Uniqueness: Pudendal neuralgia tends to affect females more than males due to changes in the alignment and stability of the pelvis from a combination of a shorter, wider pelvis and muscle imbalances associated with childbirth. Typically, males with testicular pain suffer from epididymitis or some type of testicular torsion, which was not the situation in this case. Compression is also a common cause of pudendal neuralgia, although it was not responsible for this patient's pain, making diagnosis and treatment complex. Conclusions: Many pain syndromes can be treated with removal of the original stimulus. However, recognizing the factors contributing to pelvic pain and dysfunction in males can be a challenge for the sports medicine professional. A vigilant and unassuming approach to male pelvic pain is warranted, particularly by health care providers in diverse practice settings.