Publications by authors named "Susana Salceda"

9 Publications

  • Page 1 of 1

Continental Origin for Q Haplogroup Patrilineages in Argentina and Paraguay.

Hum Biol 2021 02;92(2):63-80

Instituto Multidisciplinario de Biología Celular (IMBICE), Consejo Nacional de Investigaciones Científicas y Técnicas de la Republica Argentina (CONICET)-Comisión de Investigaciones Científicas (CIC)-Universidad Nacional de La Plata (UNLP), La Plata, Argentina,

Haplogroup Q originated in Eurasia around 30,000 years ago. It is present in Y-chromosomes from Asia and Europe at rather low frequencies. Since America is undoubtedly one of the continents where this haplogroup is highly represented, it has been defined as one of the founding haplogroups. Its M3 clade has been early described as the most frequent, with pan-American representation. However, it was also possible to find several other haplogroup Q clades at low frequencies. Numerous mutations have been described for haplogroup Q, allowing analysis of its variability and assignment of its geographic origin. We have analyzed 442 samples of unrelated men from Argentina and Paraguay belonging to haplogroup Q; here we report specifically on 27 Q (xM3) lineages. We tested 3 single-nucleotide polymorphisms (SNPs) by amplified product-length polymorphism (APLP) analysis, 3 SNPs for restriction fragment length polymorphism (RFLP) analysis, 15 SNPs by Sanger sequencing, and 17 short tandem repeats (STRs). Our approach allowed us to identify five subhaplogroups. Q-M3 and Q-CTS2730/Z780 are undoubtedly autochthonous lineages and represent the most frequent subhaplogroups, with significant representation in self-defined aboriginal populations, and their autochthonous status has been previously described. The aim of present work was to identify the continental origin of the remaining Q lineages. Thus, we analyzed the STR haplotypes for the samples and compared them with haplotypes described by other authors for the rest of the world. Even when haplogroup Q lineages have been extensively studied in America, some of them could have their origin in post-Columbian human migration from Europe and Middle East.
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http://dx.doi.org/10.13110/humanbiology.92.2.01DOI Listing
February 2021

A Th1/IFNγ Gene Signature Is Prognostic in the Adjuvant Setting of Resectable High-Risk Melanoma but Not in Non-Small Cell Lung Cancer.

Clin Cancer Res 2020 04 15;26(7):1725-1735. Epub 2019 Nov 15.

GSK, Rixensart, Belgium.

Purpose: Immune components of the tumor microenvironment (TME) have been associated with disease outcome. We prospectively evaluated the association of an immune-related gene signature (GS) with clinical outcome in melanoma and non-small cell lung cancer (NSCLC) tumor samples from two phase III studies.

Experimental Design: The GS was prospectively validated using an adaptive signature design to optimize it for the sample type and technology used in phase III studies. One-third of the samples were used as "training set"; the remaining two thirds, constituting the "test set," were used for the prospective validation of the GS.

Results: In the melanoma training set, the expression level of eight Th1/IFNγ-related genes in tumor-positive lymph node tissue predicted the duration of disease-free survival (DFS) and overall survival (OS) in the placebo arm. This GS was prospectively and independently validated as prognostic in the test set. Building a multivariate Cox model in the test set placebo patients from clinical covariates and the GS score, an increased number of melanoma-involved lymph nodes and the GS were associated with DFS and OS. This GS was not associated with DFS in NSCLC, although expression of the Th1/IFNγ-related genes was associated with the presence of lymphocytes in tumor samples in both indications.

Conclusions: These findings provide evidence that expression of genes in the TME, as measured by this GS, is associated with clinical outcome in melanoma. This suggests that, using this GS, patients with stage IIIB/C melanoma can be classified into different risk groups.
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http://dx.doi.org/10.1158/1078-0432.CCR-18-3717DOI Listing
April 2020

Evaluation of a rapid DNA process with the RapidHIT ID system using a specialized cartridge for extracted and quantified human DNA.

Forensic Sci Int Genet 2018 05 13;34:116-127. Epub 2018 Feb 13.

IntegenX Inc., 5720 Stoneridge Drive, Suite 300, Pleasanton, CA 94588, USA. Electronic address:

The turn-around time of urgent crime scene DNA samples is often far longer than desired by law enforcement. Crime scene DNA sample processing involves both complex and routine processing steps. Simplification and integration of the routine steps would dramatically improve turn-around time and reduce the risk of operator contamination. Routine DNA extraction and quantitation is readily available. However, PCR amplification and electrophoretic analysis remain largely manual. Rapid DNA Analysis is a hands-free "swab in - profile out" process which consists of automated DNA extraction, amplification, separation, detection, and allele calling without human intervention. RapidHIT 200 and RapidHIT ID are rapid DNA systems developed by IntegenX (Pleasanton, CA) and validated for the use of buccal swabs. A new generation of the RapidHIT sample cartridge for RapidHIT ID has been designed and tested which allows the loading of extracted and quantified DNA. RapidHIT EXT sample cartridge allows a user to generate a forensic DNA profile from less than 250 pg of extracted and quantified DNA in less than 90 min with less than one-minute hands-on time. Once the sample is loaded in the RapidHIT EXT sample cartridge, a DNA profile is produced after amplification, detection and automated data analysis. We report on sensitivity, reproducibility, concordance, DNA mixtures and carryover for EXT sample cartridges pre-loaded with GlobalFiler Express and AmpFLSTR NGM SElect™ Express, (Thermo Fisher Scientific, Waltham, MA) STR chemistries. Purified and quantified DNA from mock crime scene samples were used to demonstrate the utility of these cartridges in an established forensic laboratory.
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http://dx.doi.org/10.1016/j.fsigen.2018.02.010DOI Listing
May 2018

Validation of a rapid DNA process with the RapidHIT ID system using GlobalFiler Express chemistry, a platform optimized for decentralized testing environments.

Forensic Sci Int Genet 2017 05 12;28:21-34. Epub 2017 Jan 12.

IntegenX Inc, 5720 Stoneridge Drive, Suite 300, Pleasanton, CA, 94588, USA. Electronic address:

The RapidHIT ID is a fully automated sample-to-answer system for short tandem repeat (STR)-based human identification. The RapidHIT ID has been optimized for use in decentralized environments and processes presumed single source DNA samples, generating Combined DNA Index System (CODIS)-compatible DNA profiles in less than 90min. The system is easy to use, requiring less than one minute of hands-on time. Profiles are reviewed using centralized linking software, RapidLINK™ (IntegenX, Pleasanton, CA), a software tool designed to collate DNA profiles from single or multiple RapidHIT ID systems at different geographic locations. The RapidHIT ID has been designed to employ GlobalFiler Express and AmpFLSTR NGMSElect™, Thermo Fisher Scientific (Waltham, MA) STR chemistries. The Developmental Validation studies were performed using GlobalFiler Express with single source reference samples according to Scientific Working Group for DNA Analysis Methods guidelines. These results show that multiple RapidHIT ID systems networked with RapidLINK software form a highly reliable system for wide-scale deployment in locations such as police booking stations and border crossings enabling real-time testing of arrestees, potential human trafficking victims, and other instances where rapid turnaround is essential.
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http://dx.doi.org/10.1016/j.fsigen.2017.01.005DOI Listing
May 2017

Variations in estimates of underweight, stunting, wasting, overweight and obesity in children from Argentina comparing three growth charts.

Public Health Nutr 2012 Nov 23;15(11):2086-90. Epub 2012 Mar 23.

Instituto de Genética Veterinaria, Ing. Fernando N. Dulout, Facultad de Ciencias Veterinarias, UNLP-CONICET, La Plata, Argentina.

Objective: To compare estimates of underweight, stunting, wasting, overweight and obesity based on three growth charts.

Design: Cross-sectional study to estimate weight-for-age, length/height-for-age and weight-for-height comparing the 2006 WHO Child Growth Standards ('the WHO standards'), the 1977 National Center for Health Statistics (NCHS) international growth reference ('the NCHS reference') and the 1987 Argentine Pediatric Society Committee of Growth and Development reference ('the APS reference'). Cut-off points were defined as mean values ±2 s d. Epi-Info software version 6·0 (Centers for Disease Control and Prevention) was used for statistical evaluations (χ 2, P ≤ 0·05).

Setting: Greater La Plata conurbation, Buenos Aires, Argentina.

Subjects: A total of 2644 healthy, full-term children from 0 to 5 years of age.

Results: Prevalence of underweight was higher with the WHO standards than with the other references up to the first 6 months. For the rest of the ages, prevalence was lower with the WHO standards. Stunting prevalence was higher with the WHO standards at all ages. Prevalence of wasting was higher with the WHO standards compared with the NCHS reference up to the first 6 months and lower at 2-5 years of age. Overweight and obesity prevalences were higher with the WHO standards at all ages.

Conclusions: The new WHO standards appear to be a solid and reliable tool for diagnosis and treatment of nutritional diseases, also being the only one built with infants fed according to WHO recommendations. Therefore, our results support the decision of the National Ministry of Health about the utilization of the new WHO standards to monitor the nutritional status of Argentinean children aged less than 5 years.
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http://dx.doi.org/10.1017/S136898001200095XDOI Listing
November 2012

Brief communication: Restricted geographic distribution for Y-Q* paragroup in South America.

Am J Phys Anthropol 2009 Nov;140(3):578-82

Laboratorio de Genética Molecular Poblacional, Instituto Multidisciplinario de Biología Celular (IMBICE), CCT- CONICET-La Plata 1900, Argentina.

We analyzed 21 paragroup Q* Y chromosomes from South American aboriginal and urban populations. Our aims were to evaluate the phylogenetic status, geographic distribution, and genetic diversity in these groups of chromosomes and compare the degree of genetic variation in relation to Q1a3a haplotypes. All Q* chromosomes from our series and five samples from North American Q* presented the derivate state for M346, that is present upstream to M3, and determined Q1a3* paragroup. We found a restrictive geographic distribution and low frequency of Q1a3* in South America. We assumed that this low frequency could be reflecting extreme drift effects. However, several estimates of gene diversity do not support the existence of a severe bottleneck. The mean haplotype diversity expected was similar to that for South American Q1a3* and Q1a3a (0.478 and 0.501, respectively). The analysis of previous reports from other research groups and this study shows the highest frequencies of Q* for the West Corner and the Grand Chaco regions of South America. At present, there is no information on whether the phylogenetic status of Q* paragoup described in previous reports is similar to that of Q1a3* paragroup though our results support this possibility.
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http://dx.doi.org/10.1002/ajpa.21133DOI Listing
November 2009

[Comparison between references of the overweight and obesity prevalence, through the Body Mass Index, in Argentinean children].

Arch Latinoam Nutr 2008 Dec;58(4):330-5

Instituto de Desarrollo e Investigaciones Pediátricas IDIP (MS/CIC-PBA) del Hospital de Niños de La Plata, Argentina.

The evaluation of child nutritional status is highly dependent on the growth charts used. The aim of this study was to compare different references assessing overweight and obesity in children population, through the Body Mass Index. A total of 737 healthy children born at term, aged 2-5 years, were included (cross-sectional study). The participation was voluntary and consent. Body Mass Index (kg/m2) was estimated. The measurements techniques were based on national guidelines. We compared three references: (1) Centers for Disease Control and Prevention (CDC) (> Pc85: overweight; > Pc95: obesity; (2) International Obesity Task Force (IOTF) (sex-age-specific body mass index cut-offs); (3) World Health Organization (WHO) (+2 standard deviation: overweight; +3: obesity). The Epi Info 6.0 software was used to the statistical evaluation (chi2, p < or = .05%). The prevalence of overweight was 1.1 and 2.33 times higher in CDC application respect to the IOTF and the WHO references respectively. The prevalence of overweight was 2.1 times higher in IOTF application respect to the WHO references (p = .00001). The prevalence of obesity was 5.4 and 23.9 times higher in CDC application respect to the IOTF and the WHO references respectively. The prevalence of obesity was 4.4 times higher in IOTF application respect to the WHO references (p = .0000001). The prevalence of overweight and obesity, calculated through the BMI, differs substantially according to the reference and cut-off points used. In the absence of even a single criterion, each of the references should be used with care.
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December 2008

Protein-energy malnutrition contributes to increased structural chromosomal alteration frequencies in Argentinean children.

Nutr Res 2009 Jan;29(1):35-40

IGEVET, Facultad de Ciencias Veterinarias, Universidad Nacional de La Plata-CONICET, Argentina; IDIP (MS/CIC-PBA) Hospital de Niños de La Plata, Ministerio de Salud de la Provincia de Buenos Aires, Argentina.

The relationship between protein-energy malnutrition and genetic damage has been studied in human beings and laboratory animals, but results are still conflicting. The aim of the present study was to assess the induction of structural chromosomal aberrations in peripheral blood lymphocytes of children with primary protein-energy malnutrition. A case-control study was performed. Samples were obtained from 25 primary malnourished infants (mean age, 22 months; range, 1-66 months). The control group consisted of 25 eutrophic children from the same population who were matched 1:1 by age and sex. Anthropometric and clinic evaluations were performed to assess nutritional condition. Before blood collection, we interviewed each individual's parent to complete a semi-structural survey specifying age, dietary habits, viral or bacterial diseases; previous exposure to diagnostic x-rays; and use of therapeutic drugs. After 48 hours, 100 cultured lymphocytes were analyzed per patient. Statistical analysis was performed using the Epi Dat 3.0 program (P < or = .05). The chromosomal aberration frequency was nearly 7 times higher in malnourished infants than in controls (14.61% vs 2.2%, respectively). This difference was statistically significant (P < .001) and may be explained by the occurrence of achromatic lesions, breaks, and telomeric associations. DNA damage could be attributed to several factors: severe deficiency of essential nutrients (ie zinc, iron, and vitamin A) required in the synthesis of DNA maintenance factors; deterioration of repair mechanisms allowing the persistence of an unusually high number of structural chromosomal aberrations; and/or the absence of specific factors needed to protect the cell against oxidative DNA damage.
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http://dx.doi.org/10.1016/j.nutres.2008.09.013DOI Listing
January 2009

The immunomodulatory protein B7-H4 is overexpressed in breast and ovarian cancers and promotes epithelial cell transformation.

Exp Cell Res 2005 May;306(1):128-41

diaDexus, Inc., 343 Oyster Point Boulevard, South San Francisco, CA 94080, USA.

B7-H4 protein is expressed on the surface of a variety of immune cells and functions as a negative regulator of T cell responses. We independently identified B7-H4 (DD-O110) through a genomic effort to discover genes upregulated in tumors and here we describe a new functional role for B7-H4 protein in cancer. We show that B7-H4 mRNA and protein are overexpressed in human serous ovarian cancers and breast cancers with relatively little or no expression in normal tissues. B7-H4 protein is extensively glycosylated and displayed on the surface of tumor cells and we provide the first demonstration of a direct role for B7-H4 in promoting malignant transformation of epithelial cells. Overexpression of B7-H4 in a human ovarian cancer cell line with little endogenous B7-H4 expression increased tumor formation in SCID mice. Whereas overexpression of B7-H4 protected epithelial cells from anoikis, siRNA-mediated knockdown of B7-H4 mRNA and protein expression in a breast cancer cell line increased caspase activity and apoptosis. The restricted normal tissue distribution of B7-H4, its overexpression in a majority of breast and ovarian cancers and functional activity in transformation validate this cell surface protein as a new target for therapeutic intervention. A therapeutic antibody strategy aimed at B7-H4 could offer an exciting opportunity to inhibit the growth and progression of human ovarian and breast cancers.
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http://dx.doi.org/10.1016/j.yexcr.2005.01.018DOI Listing
May 2005