Although Hispanics of Mexican origin in the United States have been identified as a population with a particularly higher rate of Down syndrome (DS), there is a paucity of studies concerning this topic in Mexico. The aim of this study was to determine the prevalence and risk factors for DS in a population from Western Mexico. For prevalence, 230 liveborn infants with DS were included from a total of 89,332 births occurring during the period 2009-2017 at the Dr. Juan I.Menchaca Civil Hospital of Guadalajara (Mexico). In order to evaluate potential DS risks, a casecontrol study was conducted among 633 newborns, including those 211 DS patients with full trisomy 21 (cases) and 422 infants without birth defects (controls). Data were analyzed using multivariable logistic regression analysis. The overall prevalence for DS was 25.7 per 10,000 (95% confidence interval [95% CI]: 22.4-29.1). Patients with DS had a significantly higher risk for family history of DS in distant relatives (adjusted odds ratio [aOR] = 4.4, 95% CI: 2.5-7.7), relatives with thyroid disease (aOR = 2.3, 95% CI: 1.2-4.0), maternal age ≤ 19 years (aOR = 5.1, 95% CI: 2.7-9.6) or ≥ 35 years (aOR = 3.3, 95% CI: 1.5-6.9), paternal age ≤ 19 years (aOR = 3.5, 95% CI: 1.7-7.4), pre-pregnancy BMI ≥ 25 kg/m 2 (aOR = 1.6, 95% CI: 1.0-2.4), and prepregnancy alcohol consumption (aOR = 1.8, 95% CI: 1.1-2.9). The identified risks in family history, and previously mentioned nutritional disadvantages were associated with DS in our sample and probably also to its increased prevalence in our population. K E Y W O R D S adolescent parents, alcohol consumption, maternal age, maternal overweight, socioeconomic status

Philadelphia chromosome-positive acute lymphoblastic leukemia (Ph + ALL), is characterized by the t(9;22)(q34q11) that generates the BCR-ABL protein with uncontrolled tyrosine kinase activity. Recently, a connection between BCR-ABL signaling with NF-κB activation mediated by CK2 has been hypothesized. Approximately 95% of patients with Ph + ALL have the BCR-ABLp190 isoform, which causes aggressive leukemia with a high rate of chemotherapy resistance. Therefore, the use of compounds that could improve the efficacy of chemotherapy drugs is of particular interest. Curcumin is an active chemical in turmeric with antineoplastic potential; it regulates protein-kinases by modulating downstream molecular pathways. The present study evaluated the effect of curcumin in combination with the chemotherapeutic drugs vincristine, imatinib and daunorubicin in the human OP-1 cell line. Several doses of the chemotherapy drugs were examined, and the effects were evaluated following 12, 24 and 48 h of exposure. The interaction between the chemotherapy drugs and curcumin was determined by the dose-effect curve, which generated a combination index (CI); these data were represented in isobolograms. In addition, the individual effect of each drug was compared with its effect in combination with curcumin on cell viability, apoptosis degree, NF-κB activation and gene expression changes. The present study observed that curcumin potentiates the efficacy of vincristine and imatinib, generating an additive/synergistic effect in a dose-and time-dependent manner. These combinations significantly increased the apoptosis degree, decreased the activation of NF-κB and the expression of its regulated genes. Conversely treatment with daunorubicin + curcumin combination produced an antagonistic/additive effect in a dose-dependent manner, and this combination significantly increased the apoptosis degree. However, this effect seems not to be associated with NF-κB activity, as no significant changes were observed in its activation or in the expression of the genes that it regulates. The results of the present study demonstrate that curcumin may be used as an adjuvant agent for chemotherapy in patients with Ph + ALL.

Background Acute leukemias represent the main malignancies occurring among children under the age of 15 years. Around 17% corresponds to acute myeloid leukemia (AML). The cytogenetic analysis of bone marrow complements the diagnosis of hematological malignancies, therefore finding chromosomal aberrations provides a more reliable prognosis of the disease. Among the cytogenetic aberrations, sole trisomy is frequent in malignant neoplasias, but few cases related to AML have been reported. Case presentation We report a sole trisomy 6 in a pediatric patient diagnosed as AML M4 and poor progression. We carried out a literature review of AML patients with sole trisomy 6 and compared their evolution against AML patients with normal karyotype. Conclusions This is the first case of pediatric AML M4 with this cytogenetic finding. Sole trisomy 6 is infrequently reported in AML but scarce in pediatric cases. Based on overall survival analysis, we suggest that sole trisomy 6 could be associated with poor prognosis, in both, adult as well as pediatric AML.

Turner Syndrome is characterized by a normal X chromosome and the partial or complete absence of a second sexual chromosome. Small supernumerary marker chromosomes are present in 6.6% of these patients. Because of the wide range of Turner syndrome karyotypes, it is difficult to establish a relationship with the phenotype of the patients. We present the case of a female patient with Turner syndrome, insulin resistance, type 2 diabetes, and intellectual disability. The karyotype revealed the presence of mosaicism with a monosomy X cell line and a second line with a small marker chromosome. FISH of two different tissues was used to identify the marker chromosome with probes for X and Y centromeres. Both tissues presented mosaicism for a two X chromosome signal, differing in the percentage of the monosomy X cell percentage. Comparative genomic hybridization with the CytoScanTMHD assay was performed in genomic DNA from peripheral blood, allowing us to determine the size and breakage points of the small marker chromosome. The patient presents a phenotype that combines classic Turner syndrome features and unlikely ones as intellectual disability. The size, implicated genes, and degree of inactivation of the X chromosome influence the broad spectrum of phenotypes resulting from these chromosomes.