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  • 1
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    Adherence to the Mediterranean diet as a possible additional tool to be used for screening the metabolically unhealthy obesity (MUO) phenotype
    Springer Science and Business Media LLC ; 2023
    In:  Journal of Translational Medicine Vol. 21, No. 1 ( 2023-09-28)
    Details
    In: Journal of Translational Medicine, Springer Science and Business Media LLC, Vol. 21, No. 1 ( 2023-09-28)
    Kurzfassung: The terms metabolically healthy obesity (MHO) and metabolically unhealthy obesity (MUO) categorize subjects with obesity based on the presence or absence of cardio-metabolic risk factors. Detecting MUO phenotype is crucial due to the high risk of cardio-metabolic complications, requiring tailored and intensive follow-up. However, diagnosing MUO is time-consuming and costly. Thus, we aimed to investigate the role of Mediterranean diet (MD) in determining MHO/MUO phenotypes and whether adherence to MD could serve as an additional screening tool for MUO phenotype. Methods The study population of this cross-sectional observational study consisted of 275 subjects with obesity. We assessed their lifestyle habits (physical activity and smoking habits), anthropometric measurements (weight, height, waist circumference, body mass index), blood pressure, metabolic parameters, inflammatory marker (high sensitivity C reactive protein levels), adherence to MD (by PREvención con DIetaMEDiterránea (PREDIMED) questionnaire), and MHO/MUO phenotypes. Results The study included 275 individuals with obesity (256F/19M; 34.0 ± 10.5 years; BMI 38.3 ± 5.95 kg/m 2 ). Among them, 114 (41.5%) exhibited MHO phenotype, while 161 (58.5%) had MUO phenotype. MHO phenotype exhibited favorable anthropometric and cardio-metabolic profiles, characterized by lower waist circumference (p  〈  0.001), BMI (p  〈  0.001), insulin resistance (p  〈  0.001), blood pressure (p  〈  0.001), inflammation (p  〈  0.001), and lipid levels (p  〈  0.001) compared to MUO phenotype. Notably, we found that MHO phenotype had higher adherence to MD (p  〈  0.001) and consumed more extra virgin olive oil (EVOO) (p  〈  0.001), vegetables (p  〈  0.001), fruits (p  〈  0.001), legumes (p = 0.001), fish (p  〈  0.001), wine (p = 0.008), and nuts (p = 0.001), while reporting lower intake of red/processed meats (p  〈  0.001), butter, cream, margarine (p = 0.008), soda drinks (p = 0.006), and commercial sweets (p = 0.002) compared to MUO phenotype. Adherence to MD (p  〈  0.001) and EVOO (p = 0.015) intake were identified as influential factors in determining the presence of MUO/MHO phenotypes. Furthermore, a PREDIMED score  〈  5 proved to be the most sensitive and specific cut-point value for predicting the presence of MUO phenotype (p  〈  0.001). Conclusion High adherence to MD was associated with MHO phenotype. Moreover, we suggest that a specific cut-off of the PREDIMED score could be an indicator to discriminate patients with MUO/MHO phenotypes and therefore help in identifying patients at higher cardiovascular risk who will require specific dietary intervention.
    Materialart: Online-Ressource
    ISSN: 1479-5876
    URL: Article
    DOI: 10.1186/s12967-023-04546-0
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2023
    ZDB Id: 2118570-0
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 2
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    A deep analysis using panel-based next-generation sequencing in an Ecuadorian pediatric patient with anaplastic astrocytoma: a case report
    Springer Science and Business Media LLC ; 2020
    In:  Journal of Medical Case Reports Vol. 14, No. 1 ( 2020-12)
    Details
    In: Journal of Medical Case Reports, Springer Science and Business Media LLC, Vol. 14, No. 1 ( 2020-12)
    Kurzfassung: Anaplastic astrocytoma is a rare disorder in children from 10 to 14 years of age, with an estimated 0.38 new cases per 100,000 people per year worldwide. Panel-based next-generation sequencing opens new possibilities for diagnosis and therapy of rare diseases such as this one. Because it has never been genetically studied in the Ecuadorian population, we chose to genetically characterize an Ecuadorian pediatric patient with anaplastic astrocytoma for the first time. Doing so allows us to provide new insights into anaplastic astrocytoma diagnosis and treatment. Case presentation Our patient was a 13-year-old Mestizo girl with an extensive family history of cancer who was diagnosed with anaplastic astrocytoma. According to ClinVar, SIFT, and PolyPhen, the patient harbored 354 genomic alterations in 100 genes. These variants were mostly implicated in deoxyribonucleic acid (DNA) repair. The top five most altered genes were FANCD2 , NF1 , FANCA , FANCI , and WRN. Even though TP53 presented only five mutations, the rs11540652 single-nucleotide polymorphism classified as pathogenic was found in the patient and her relatives; interestingly, several reports have related it to Li-Fraumeni syndrome. Furthermore, in silico analysis using the Open Targets Platform revealed two clinical trials for pediatric anaplastic astrocytoma (studying cabozantinib, ribociclib, and everolimus) and 118 drugs that target the patient’s variants, but the studies were not designed specifically to treat pediatric anaplastic astrocytoma. Conclusions Next-generation sequencing allows genomic characterization of rare diseases; for instance, this study unraveled a pathogenic single-nucleotide polymorphism related to Li-Fraumeni syndrome and identified possible new drugs that specifically target the patient’s variants. Molecular tools should be implemented in routine clinical practice for early detection and effective preemptive intervention delivery and treatment.
    Materialart: Online-Ressource
    ISSN: 1752-1947
    URL: Article
    DOI: 10.1186/s13256-020-02451-4
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2020
    ZDB Id: 2269805-X
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 3
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    Analysis of Racial/Ethnic Representation in Select Basic and Applied Cancer Research Studies
    Springer Science and Business Media LLC ; 2018
    In:  Scientific Reports Vol. 8, No. 1 ( 2018-09-18)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 8, No. 1 ( 2018-09-18)
    Kurzfassung: 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.
    Materialart: Online-Ressource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-018-32264-x
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2018
    ZDB Id: 2615211-3
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 4
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    Clinical, cytogenetic, and genomic analyses of an Ecuadorian subject with Klinefelter syndrome, recessive hemophilia A, and 1;19 chromosomal translocation: a case report
    Springer Science and Business Media LLC ; 2022
    In:  Molecular Cytogenetics Vol. 15, No. 1 ( 2022-09-05)
    Details
    In: Molecular Cytogenetics, Springer Science and Business Media LLC, Vol. 15, No. 1 ( 2022-09-05)
    Kurzfassung: Hemophilia A is considered one of the most common severe hereditary disorders. It is an X-linked recessive disease caused by a deficiency or lack of function of the blood clotting factor VIII. Klinefelter syndrome is a genetic disorder that affects male individuals due to one or more extra X chromosomes, present in all cells or with mosaicism. The aneuploidy is due to either mitotic or meiotic chromosome non-disjunction. Chromosomal translocations are a group of genome abnormalities in which a region or regions of a chromosome break and are transferred to a nonhomologous chromosome or a new location in the same chromosome. Case presentation Our subject was born in Ecuador at 36 weeks of gestation by vaginal delivery. At 3 months old, the Factor VIII activity measure showed a 23.7% activity indicating a diagnosis of mild hemophilia A. At 1 year old, the karyotype showed an extra X chromosome, consistent with a diagnosis of Klinefelter syndrome, and a translocation between the long arms of chromosomes 1 and 19, at positions q25 and q13, respectively. Conclusions Klinefelter syndrome and hemophilia are a rare combination. In the present case report, the subject presents both, meaning that he has inherited one X chromosome from the father and one X chromosome from the mother. Since the father has severe hemophilia A; and the subject presents a below 40% Factor VIII activity, a skewed X inactivation is suggested. Additionally, the proband presents a translocation with the karyotype 47,XXY,t(1;19)(q25;q13). No similar report with phenotypic consequences of the translocation was found. The present report highlights the importance of a correct diagnosis, based not only on the clinical manifestations of a disease but also on its genetic aspects, identifying the value of integrated diagnostics. The subject presents three different genetic alterations, Klinefelter syndrome, hemophilia A, and a 1;19 chromosomal translocation.
    Materialart: Online-Ressource
    ISSN: 1755-8166
    URL: Article
    DOI: 10.1186/s13039-022-00618-w
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2022
    ZDB Id: 2420849-8
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 5
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    The three-hybrid genetic composition of an Ecuadorian population using AIMs-InDels compared with autosomes, mitochondrial DNA and Y chromosome data
    Springer Science and Business Media LLC ; 2019
    In:  Scientific Reports Vol. 9, No. 1 ( 2019-06-25)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 9, No. 1 ( 2019-06-25)
    Kurzfassung: 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.
    Materialart: Online-Ressource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-019-45723-w
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2019
    ZDB Id: 2615211-3
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 6
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    Clinical, genomics and networking analyses of a high-altitude native American Ecuadorian patient with congenital insensitivity to pain with anhidrosis: a case report
    Springer Science and Business Media LLC ; 2020
    In:  BMC Medical Genomics Vol. 13, No. 1 ( 2020-12)
    Details
    In: BMC Medical Genomics, Springer Science and Business Media LLC, Vol. 13, No. 1 ( 2020-12)
    Kurzfassung: 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). Case presentation Here, we present clinical and molecular findings in a 9-year-old girl with CIPA. The high-altitude indigenous Ecuadorian patient presented several health problems such as anhidrosis, bone fractures, self-mutilation, osteochondroma, intellectual disability and Riga-Fede disease. After the mutational analysis of NTRK1 , the patient showed a clearly autosomal recessive inheritance pattern with the pathogenic mutation rs763758904 (Arg602*) and the second missense mutation rs80356677 (Asp674Tyr). Additionally, the genomic analysis showed 69 pathogenic and/or likely pathogenic variants in 46 genes possibly related to phenotypic heterogeneity, including the rs324420 variant in the FAAH gene. The gene ontology enrichment analysis showed 28 mutated genes involved in several biological processes. As a novel contribution, the protein-protein interaction network analysis showed that NTRK1, SPTBN2 and GRM6 interact with several proteins of the pain matrix involved in the response to stimulus and nervous system development. Conclusions This is the first study that associates clinical, genomics and networking analyses in a Native American patient with consanguinity background in order to better understand CIPA pathogenesis.
    Materialart: Online-Ressource
    ISSN: 1755-8794
    URL: Article
    DOI: 10.1186/s12920-020-00764-3
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2020
    ZDB Id: 2411865-5
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 7
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    Genetic basis and spatial distribution of glucose-6-phosphate dehydrogenase deficiency in ecuadorian ethnic groups: a malaria perspective
    Springer Science and Business Media LLC ; 2023
    In:  Malaria Journal Vol. 22, No. 1 ( 2023-09-26)
    Details
    In: Malaria Journal, Springer Science and Business Media LLC, Vol. 22, No. 1 ( 2023-09-26)
    Kurzfassung: Glucose-6-phosphate dehydrogenase deficiency (G6PDd) is an X-linked disorder affecting over 400 million people worldwide. Individuals with molecular variants associated with reduced enzymatic activity are susceptible to oxidative stress in red blood cells, thereby increasing the risk of pathophysiological conditions and toxicity to anti-malarial treatments. Globally, the prevalence of G6PDd varies among populations. Accordingly, this study aims to characterize G6PDd distribution within the Ecuadorian population and to describe the spatial distribution of reported malaria cases. Methods Molecular variants associated with G6PDd were genotyped in 581 individuals from Afro-Ecuadorian, Indigenous, Mestizo, and Montubio ethnic groups. Additionally, spatial analysis was conducted to identify significant malaria clusters with high incidence rates across Ecuador, using data collected from 2010 to 2021. Results The A- c.202G  〉  A and A- c.968T  〉  C variants underpin the genetic basis of G6PDd in the studied population. The overall prevalence of G6PDd was 4.6% in the entire population. However, this frequency increased to 19.2% among Afro-Ecuadorian people. Spatial analysis revealed 12 malaria clusters, primarily located in the north of the country and its Amazon region, with relative risks of infection of 2.02 to 87.88. Conclusions The findings of this study hold significant implications for public health interventions, treatment strategies, and targeted efforts to mitigate the burden of malaria in Ecuador. The high prevalence of G6PDd among Afro-Ecuadorian groups in the northern endemic areas necessitates the development of comprehensive malaria eradication strategies tailored to this geographical region.
    Materialart: Online-Ressource
    ISSN: 1475-2875
    URL: Article
    DOI: 10.1186/s12936-023-04716-x
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2023
    ZDB Id: 2091229-8
    Standort Signatur Einschränkungen Verfügbarkeit
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  • 8
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    A comparative analysis of SARS-CoV-2 viral load across different altitudes
    Springer Science and Business Media LLC ; 2022
    In:  Scientific Reports Vol. 12, No. 1 ( 2022-10-13)
    Details
    In: Scientific Reports, Springer Science and Business Media LLC, Vol. 12, No. 1 ( 2022-10-13)
    Kurzfassung: SARS-CoV-2 has spread throughout the world, including areas located at high or very high altitudes. There is a debate about the role of high altitude hypoxia on viral transmission, incidence, and COVID-19 related mortality. This is the first comparison of SARS-CoV-2 viral load across elevations ranging from 0 to 4300 m. To describe the SARS-CoV-2 viral load across samples coming from 62 cities located at low, moderate, high, and very high altitudes in Ecuador. An observational analysis of viral loads among nasopharyngeal swap samples coming from a cohort of 4929 patients with a RT-qPCR test positive for SARS-CoV-2. The relationship between high and low altitude only considering our sample of 4929 persons is equal in both cases and not significative ( p -value 0.19). In the case of low altitude, adding the sex variable to the analysis, it was possible to find a significative difference between men and women ( p -value  〈  0.05). Considering initially sex and then altitude, it was possible to find a significative difference between high and low altitude for men ( p -value 0.05). There is not enough evidence to state that viral load is affected directly by altitude range but adding a new variable as sex in the analysis shows that the presence of new variables influences the relationship of altitude range and viral load. There is no evidence that viral loads (Ct and copies/ml) differ at low or high altitude. Using sex as a co-factor, we found that men have higher viral loads than women at low and moderate altitude locations, while living at high altitude, no differences were found. When Ct values were aggregated by low, moderate, and high viral load, we found no significant differences when sex was excluded from the analysis. We conclude that viral load is not directly affected by altitude, but COVID-19 incidence and mortality are rather affected by socio-demographic and idiosyncratic dynamics.
    Materialart: Online-Ressource
    ISSN: 2045-2322
    URL: Article
    DOI: 10.1038/s41598-022-20516-w
    Sprache: Englisch
    Verlag: Springer Science and Business Media LLC
    Publikationsdatum: 2022
    ZDB Id: 2615211-3
    Standort Signatur Einschränkungen Verfügbarkeit
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